pmid stringlengths 5 8 | title stringlengths 17 342 | abstract stringlengths 1 4.53k | all_entity_list listlengths 2 73 | label listlengths 1 80 | intra-sentence listlengths 1 80 | head_gene_entity listlengths 1 80 | tail_diease_entity listlengths 1 80 | head_name listlengths 1 80 | tail_name listlengths 1 80 |
|---|---|---|---|---|---|---|---|---|---|
10451710 | Loss of NF1 allele in Schwann cells but not in fibroblasts derived from an NF1-associated neurofibroma. | Neurofibromas, the hallmark of neurofibromatosis 1, are composed mainly of Schwann cells and fibroblasts. Inactivation of both NF1 alleles is the cause of these benign tumors, but it is unknown which cell type is the progenitor. In this study, we selectively cultured Schwann cells from an NF1-associated neurofibroma. ... | [
{
"begin_idx": "265",
"end_idx": "278",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "benign tumors"
},
{
"begin_idx": "471",
"end_idx": "476",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "tumor"
},
{
"begin_idx": "584",
"e... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "135",
"end_idx": "154",
"entity_id": "4763",
"entity_type": "Gene",
"text_name": "neurofibromatosis 1"
},
{
"begin_idx": "394",
"end_idx": "397",
"entity_id": "4763",
"entity_type": "Gene",
"text_name": "NF1"
}
] | [
{
"begin_idx": "104",
"end_idx": "117",
"entity_id": "D009455",
"entity_type": "Disease",
"text_name": "Neurofibromas"
},
{
"begin_idx": "471",
"end_idx": "476",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "tumor"
}
] | [
"neurofibromatosis 1",
"NF1"
] | [
"Neurofibromas",
"tumor"
] |
10451958 | [The association of HLA-DR4 gene subtypes with Vogt-Koyanagi-Harada syndrome]. | OBJECTIVE: To investigate the association of HLA-DR4 subtypes with Vogt-Koyanagi-Harada (VKH) syndrome and to clarify immune genetic mechanism underlying the susceptibility/resistance to VKH syndrome. METHODS: HLA-DR4 alleles of 54 patients with VKH and 106 healthy controls were amplified and subtyped by polymerase ch... | [
{
"begin_idx": "47",
"end_idx": "76",
"entity_id": "D014607",
"entity_type": "Disease",
"text_name": "Vogt-Koyanagi-Harada syndrome"
},
{
"begin_idx": "146",
"end_idx": "181",
"entity_id": "D014607",
"entity_type": "Disease",
"text_name": "Vogt-Koyanagi-Harada (VKH) syndr... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "603",
"end_idx": "607",
"entity_id": "3123",
"entity_type": "Gene",
"text_name": "DRB1"
},
{
"begin_idx": "128",
"end_idx": "131",
"entity_id": "3126",
"entity_type": "Gene",
"text_name": "DR4"
}
] | [
{
"begin_idx": "146",
"end_idx": "181",
"entity_id": "D014607",
"entity_type": "Disease",
"text_name": "Vogt-Koyanagi-Harada (VKH) syndrome"
},
{
"begin_idx": "266",
"end_idx": "278",
"entity_id": "D014607",
"entity_type": "Disease",
"text_name": "VKH syndrome"
}
] | [
"DRB1",
"DR4"
] | [
"Vogt-Koyanagi-Harada (VKH) syndrome",
"VKH syndrome"
] |
10453738 | Association of the human NPPS gene with ossification of the posterior longitudinal ligament of the spine (OPLL). | OPLL (ossification of the posterior longitudinal ligament of the spine) is a common form of human myelopathy with a prevalence of as much as 4% in a variety of ethnic groups. To clarify the genetic factors that predispose to OPLL, we have studied ttw (tiptoe walking), a mouse model that presents ectopic ossification o... | [
{
"begin_idx": "40",
"end_idx": "104",
"entity_id": "C537143",
"entity_type": "Disease",
"text_name": "ossification of the posterior longitudinal ligament of the spine"
},
{
"begin_idx": "106",
"end_idx": "110",
"entity_id": "C537143",
"entity_type": "Disease",
"text_name... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "565",
"end_idx": "591",
"entity_id": "5167",
"entity_type": "Gene",
"text_name": "nucleotide pyrophosphatase"
},
{
"begin_idx": "466",
"end_idx": "470",
"entity_id": "7933",
"entity_type": "Gene",
"text_name": "OPLL"
}
] | [
{
"begin_idx": "40",
"end_idx": "104",
"entity_id": "C537143",
"entity_type": "Disease",
"text_name": "ossification of the posterior longitudinal ligament of the spine"
},
{
"begin_idx": "1494",
"end_idx": "1498",
"entity_id": "C537143",
"entity_type": "Disease",
"text_na... | [
"nucleotide pyrophosphatase",
"OPLL"
] | [
"ossification of the posterior longitudinal ligament of the spine",
"OPLL"
] |
10453740 | Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations. | Acute intermittent porphyria (AIP) is a low-penetrant autosomal dominant disorder caused by mutations in the hydroxymethylbilane synthase (HMBS) gene. Direct detection of mutations is becoming the method of choice for the accurate identification of asymptomatic affected individuals within AIP families so that they can... | [
{
"begin_idx": "147",
"end_idx": "156",
"entity_id": "D011164",
"entity_type": "Disease",
"text_name": "porphyria"
},
{
"begin_idx": "93",
"end_idx": "97",
"entity_id": "D017118",
"entity_type": "Disease",
"text_name": "HMBS"
},
{
"begin_idx": "196",
"end_idx"... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "305",
"end_idx": "333",
"entity_id": "3145",
"entity_type": "Gene",
"text_name": "hydroxymethylbilane synthase"
},
{
"begin_idx": "1549",
"end_idx": "1553",
"entity_id": "3145",
"entity_type": "Gene",
"text_name": "HMBS"
}
] | [
{
"begin_idx": "196",
"end_idx": "224",
"entity_id": "D017118",
"entity_type": "Disease",
"text_name": "Acute intermittent porphyria"
},
{
"begin_idx": "250",
"end_idx": "277",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "autosomal dominant disorder"
... | [
"hydroxymethylbilane synthase",
"HMBS"
] | [
"Acute intermittent porphyria",
"autosomal dominant disorder"
] |
10458483 | Point mutations in the steroid-binding domain of the androgen receptor gene of five Japanese patients with androgen insensitivity syndrome. | We analyzed the androgen receptor (AR) gene in five Japanese patients diagnosed with androgen insensitivity syndrome (AIS). All AR genes from the five patients had single-nucleotide substitutions, which introduced a premature termination codon in three patients (Gln640, Arg752, and Gln640 and Trp751), and a single ami... | [
{
"begin_idx": "107",
"end_idx": "138",
"entity_id": "D013734",
"entity_type": "Disease",
"text_name": "androgen insensitivity syndrome"
},
{
"begin_idx": "225",
"end_idx": "256",
"entity_id": "D013734",
"entity_type": "Disease",
"text_name": "androgen insensitivity syndr... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "53",
"end_idx": "70",
"entity_id": "367",
"entity_type": "Gene",
"text_name": "androgen receptor"
}
] | [
{
"begin_idx": "107",
"end_idx": "138",
"entity_id": "D013734",
"entity_type": "Disease",
"text_name": "androgen insensitivity syndrome"
}
] | [
"androgen receptor"
] | [
"androgen insensitivity syndrome"
] |
10459572 | A common mutation in the methylenetetrahydrofolate reductase gene is a determinant of hyperhomocysteinemia in epileptic patients receiving anticonvulsants. | Hyperhomocysteinemia is a condition caused by both genetic and nongenetic factors. To determine whether a common methylenetetrahydrofolate reductase (MTHFR) variant is related to elevated homocysteine concentrations in epileptic patients receiving anticonvulsants, we investigated the plasma total homocysteine (tHcy) l... | [
{
"begin_idx": "25",
"end_idx": "60",
"entity_id": "C537357",
"entity_type": "Disease",
"text_name": "methylenetetrahydrofolate reductase"
},
{
"begin_idx": "269",
"end_idx": "304",
"entity_id": "C537357",
"entity_type": "Disease",
"text_name": "methylenetetrahydrofolate ... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "25",
"end_idx": "60",
"entity_id": "4524",
"entity_type": "Gene",
"text_name": "methylenetetrahydrofolate reductase"
},
{
"begin_idx": "269",
"end_idx": "304",
"entity_id": "4524",
"entity_type": "Gene",
"text_name": "methylenetetrahydrofolate reductase"
... | [
{
"begin_idx": "86",
"end_idx": "106",
"entity_id": "D020138",
"entity_type": "Disease",
"text_name": "hyperhomocysteinemia"
},
{
"begin_idx": "269",
"end_idx": "304",
"entity_id": "C537357",
"entity_type": "Disease",
"text_name": "methylenetetrahydrofolate reductase"
}... | [
"methylenetetrahydrofolate reductase",
"methylenetetrahydrofolate reductase"
] | [
"hyperhomocysteinemia",
"methylenetetrahydrofolate reductase"
] |
10462014 | Changes in endothelium-derived vascular regulatory factors during dobutamine-stress-induced silent myocardial ischemia in patients with Kawasaki disease. | The changes in endothelium-derived vascular regulatory factors during dobutamine (DOB)-induced myocardial ischemia (MI) were investigated in 21 patients with Kawasaki disease aged from 11 months to 18 years. They were classified into an ischemia group (8 patients) and a non-ischemia group (13 patients) based on the re... | [
{
"begin_idx": "136",
"end_idx": "152",
"entity_id": "C537014",
"entity_type": "Disease",
"text_name": "Kawasaki disease"
},
{
"begin_idx": "312",
"end_idx": "328",
"entity_id": "C537014",
"entity_type": "Disease",
"text_name": "Kawasaki disease"
},
{
"begin_idx":... | [
"Yes",
"No"
] | [
false,
true
] | [
{
"begin_idx": "877",
"end_idx": "889",
"entity_id": "1906",
"entity_type": "Gene",
"text_name": "endothelin-1"
},
{
"begin_idx": "877",
"end_idx": "889",
"entity_id": "1906",
"entity_type": "Gene",
"text_name": "endothelin-1"
}
] | [
{
"begin_idx": "99",
"end_idx": "118",
"entity_id": "D017202",
"entity_type": "Disease",
"text_name": "myocardial ischemia"
},
{
"begin_idx": "391",
"end_idx": "399",
"entity_id": "D007511",
"entity_type": "Disease",
"text_name": "ischemia"
}
] | [
"endothelin-1",
"endothelin-1"
] | [
"myocardial ischemia",
"ischemia"
] |
10462600 | Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients. | Background: The continued identfication of new mutations in the cystathionine beta-synthase (CBS) gene is important in correlating the genotype/phenotype of patients with classic homocystinuria and in assessing whether heterozygosity of CBS deficiency is an important cause of mild hyperhomocysteinemia, an independent ... | [
{
"begin_idx": "267",
"end_idx": "281",
"entity_id": "D006712",
"entity_type": "Disease",
"text_name": "homocystinuria"
},
{
"begin_idx": "325",
"end_idx": "339",
"entity_id": "D006712",
"entity_type": "Disease",
"text_name": "CBS deficiency"
},
{
"begin_idx": "43... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "27",
"end_idx": "54",
"entity_id": "875",
"entity_type": "Gene",
"text_name": "Cystathionine beta-synthase"
},
{
"begin_idx": "152",
"end_idx": "179",
"entity_id": "875",
"entity_type": "Gene",
"text_name": "cystathionine beta-synthase"
}
] | [
{
"begin_idx": "267",
"end_idx": "281",
"entity_id": "D006712",
"entity_type": "Disease",
"text_name": "homocystinuria"
},
{
"begin_idx": "370",
"end_idx": "390",
"entity_id": "D020138",
"entity_type": "Disease",
"text_name": "hyperhomocysteinemia"
}
] | [
"Cystathionine beta-synthase",
"cystathionine beta-synthase"
] | [
"homocystinuria",
"hyperhomocysteinemia"
] |
10464147 | Biliary fibrosis associated with altered bile composition in a mouse model of erythropoietic protoporphyria. | BACKGROUND _ AIMS: Reduced activity of ferrochelatase in erythropoietic protoporphyria (EPP) results in protoporphyrin (PP) accumulation in erythrocytes and liver. Liver disease may occur in patients with EPP, some of whom develop progressive liver failure that necessitates transplantation. We investigated the mechani... | [
{
"begin_idx": "799",
"end_idx": "822",
"entity_id": "D001649",
"entity_type": "Disease",
"text_name": "bile duct proliferation"
},
{
"begin_idx": "8",
"end_idx": "16",
"entity_id": "D005355",
"entity_type": "Disease",
"text_name": "fibrosis"
},
{
"begin_idx": "82... | [
"Yes",
"Yes",
"Yes",
"No",
"No",
"No"
] | [
false,
true,
false,
false,
false,
false
] | [
{
"begin_idx": "148",
"end_idx": "162",
"entity_id": "2235",
"entity_type": "Gene",
"text_name": "ferrochelatase"
},
{
"begin_idx": "148",
"end_idx": "162",
"entity_id": "2235",
"entity_type": "Gene",
"text_name": "ferrochelatase"
},
{
"begin_idx": "148",
"end... | [
{
"begin_idx": "799",
"end_idx": "822",
"entity_id": "D001649",
"entity_type": "Disease",
"text_name": "bile duct proliferation"
},
{
"begin_idx": "78",
"end_idx": "107",
"entity_id": "D046351",
"entity_type": "Disease",
"text_name": "erythropoietic protoporphyria"
},
... | [
"ferrochelatase",
"ferrochelatase",
"ferrochelatase",
"Ntcp",
"ferrochelatase",
"ferrochelatase"
] | [
"bile duct proliferation",
"erythropoietic protoporphyria",
"biliary fibrosis",
"bile duct proliferation",
"EPP-associated liver disease",
"Liver disease"
] |
10464603 | Is the hemochromatosis gene a modifier locus for cystic fibrosis? | The variable clinical manifestations of cystic fibrosis (CF) suggest the influence of modifier genes. For example, meconium ileus is present in approximately 10-15% of neonates with cystic fibrosis; however, the genetic and, or environmental factors that determine whether an individual will develop this complication h... | [
{
"begin_idx": "49",
"end_idx": "64",
"entity_id": "D003550",
"entity_type": "Disease",
"text_name": "cystic fibrosis"
},
{
"begin_idx": "106",
"end_idx": "121",
"entity_id": "D003550",
"entity_type": "Disease",
"text_name": "cystic fibrosis"
},
{
"begin_idx": "12... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "425",
"end_idx": "428",
"entity_id": "3077",
"entity_type": "Gene",
"text_name": "HFE"
},
{
"begin_idx": "425",
"end_idx": "428",
"entity_id": "3077",
"entity_type": "Gene",
"text_name": "HFE"
}
] | [
{
"begin_idx": "49",
"end_idx": "64",
"entity_id": "D003550",
"entity_type": "Disease",
"text_name": "cystic fibrosis"
},
{
"begin_idx": "679",
"end_idx": "705",
"entity_id": "D006432",
"entity_type": "Disease",
"text_name": "hereditary hemochromatosis"
}
] | [
"HFE",
"HFE"
] | [
"cystic fibrosis",
"hereditary hemochromatosis"
] |
10464662 | Fine mapping of the human 5-HTR2a gene to chromosome 13q14 and identification of two highly polymorphic linked markers suitable for association studies in psychiatric disorders. | The serotonergic system is known to play an important role in a number of psychiatric disorders. Indeed, treatments involving agents that have their pharmacological activities within this system are the mainstay of treatment for disorders such as schizophrenia. It is now widely accepted that many common psychiatric di... | [
{
"begin_idx": "859",
"end_idx": "875",
"entity_id": "D000856",
"entity_type": "Disease",
"text_name": "anorexia nervosa"
},
{
"begin_idx": "155",
"end_idx": "176",
"entity_id": "D001523",
"entity_type": "Disease",
"text_name": "psychiatric disorders"
},
{
"begin_... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "28",
"end_idx": "33",
"entity_id": "3356",
"entity_type": "Gene",
"text_name": "HTR2a"
},
{
"begin_idx": "1179",
"end_idx": "1184",
"entity_id": "3356",
"entity_type": "Gene",
"text_name": "HTR2a"
}
] | [
{
"begin_idx": "155",
"end_idx": "176",
"entity_id": "D001523",
"entity_type": "Disease",
"text_name": "psychiatric disorders"
},
{
"begin_idx": "512",
"end_idx": "541",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "familial or genetic component"
}
] | [
"HTR2a",
"HTR2a"
] | [
"psychiatric disorders",
"familial or genetic component"
] |
10465499 | Association of vitamin D receptor gene polymorphism with multiple sclerosis in Japanese. | 1,25-Dihydroxyvitamin D3 (1,25(OH)2D3), the biologically active form of vitamin D, exerts an immunosuppressive effect and can completely prevent experimental autoimmune encephalomyelitis (EAE). 1,25(OH)2D3 exerts most of its actions only after it has bound to its specific nuclear receptors. To investigate the possible... | [
{
"begin_idx": "234",
"end_idx": "275",
"entity_id": "D004681",
"entity_type": "Disease",
"text_name": "experimental autoimmune encephalomyelitis"
},
{
"begin_idx": "277",
"end_idx": "280",
"entity_id": "D004681",
"entity_type": "Disease",
"text_name": "EAE"
},
{
... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "15",
"end_idx": "33",
"entity_id": "7421",
"entity_type": "Gene",
"text_name": "vitamin D receptor"
},
{
"begin_idx": "417",
"end_idx": "435",
"entity_id": "7421",
"entity_type": "Gene",
"text_name": "vitamin D receptor"
}
] | [
{
"begin_idx": "57",
"end_idx": "75",
"entity_id": "D009103",
"entity_type": "Disease",
"text_name": "multiple sclerosis"
},
{
"begin_idx": "234",
"end_idx": "275",
"entity_id": "D004681",
"entity_type": "Disease",
"text_name": "experimental autoimmune encephalomyelitis"
... | [
"vitamin D receptor",
"vitamin D receptor"
] | [
"multiple sclerosis",
"experimental autoimmune encephalomyelitis"
] |
10466419 | Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity. | alpha-L-Iduronidase (IDUA) deficiency (mucopolysaccharidosis type I, MPS I) involves a broad spectrum of clinical severity ranging from a severe Hurler syndrome through an intermediate Hurler Scheie syndrome to a mild Scheie syndrome. To date, a number of mutations of the IDUA gene are known in Hurler syndrome, but on... | [
{
"begin_idx": "0",
"end_idx": "28",
"entity_id": "D008059",
"entity_type": "Disease",
"text_name": "Mucopolysaccharidosis type I"
},
{
"begin_idx": "251",
"end_idx": "266",
"entity_id": "D008059",
"entity_type": "Disease",
"text_name": "Hurler syndrome"
},
{
"beg... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "76",
"end_idx": "95",
"entity_id": "3425",
"entity_type": "Gene",
"text_name": "alpha-L-iduronidase"
},
{
"begin_idx": "819",
"end_idx": "823",
"entity_id": "3425",
"entity_type": "Gene",
"text_name": "IDUA"
}
] | [
{
"begin_idx": "0",
"end_idx": "28",
"entity_id": "D008059",
"entity_type": "Disease",
"text_name": "Mucopolysaccharidosis type I"
},
{
"begin_idx": "175",
"end_idx": "180",
"entity_id": "D016532",
"entity_type": "Disease",
"text_name": "MPS I"
}
] | [
"alpha-L-iduronidase",
"IDUA"
] | [
"Mucopolysaccharidosis type I",
"MPS I"
] |
10467420 | Mutation of beta-catenin is an early event in chemically induced mouse hepatocellular carcinogenesis. | beta-catenin activation, and subsequent upregulation of Wnt-signaling, is an important event in the development of certain human and rodent cancers. Recently, mutations in the beta-catenin gene in the region of the serine-threonine glycogen kinase (GSK)-3beta phosphorylation target sites have been identified in hepato... | [
{
"begin_idx": "1446",
"end_idx": "1454",
"entity_id": "D000236",
"entity_type": "Disease",
"text_name": "adenomas"
},
{
"begin_idx": "1459",
"end_idx": "1469",
"entity_id": "D002277",
"entity_type": "Disease",
"text_name": "carcinomas"
},
{
"begin_idx": "791",
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "12",
"end_idx": "24",
"entity_id": "1499",
"entity_type": "Gene",
"text_name": "beta-catenin"
},
{
"begin_idx": "1122",
"end_idx": "1134",
"entity_id": "1499",
"entity_type": "Gene",
"text_name": "beta-catenin"
}
] | [
{
"begin_idx": "1089",
"end_idx": "1104",
"entity_id": "D008113",
"entity_type": "Disease",
"text_name": "liver neoplasms"
},
{
"begin_idx": "669",
"end_idx": "678",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "neoplasms"
}
] | [
"beta-catenin",
"beta-catenin"
] | [
"liver neoplasms",
"neoplasms"
] |
10467834 | Prognostic value of serum C-reactive protein in kala-azar. | The currently recommended protocol for treatment of kala-azar (KA) necessitates repeated bone marrow/splenic aspiration to monitor the response and duration of therapy as well as to detect resistance and change to alternative drugs. These procedures being invasive, there is a pressing need for less invasive diagnostic... | [
{
"begin_idx": "48",
"end_idx": "57",
"entity_id": "D007898",
"entity_type": "Disease",
"text_name": "kala-azar"
},
{
"begin_idx": "111",
"end_idx": "120",
"entity_id": "D007898",
"entity_type": "Disease",
"text_name": "kala-azar"
},
{
"begin_idx": "122",
"end... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "26",
"end_idx": "44",
"entity_id": "1401",
"entity_type": "Gene",
"text_name": "C-reactive protein"
}
] | [
{
"begin_idx": "479",
"end_idx": "501",
"entity_id": "D007898",
"entity_type": "Disease",
"text_name": "visceral leishmaniasis"
}
] | [
"C-reactive protein"
] | [
"visceral leishmaniasis"
] |
10468508 | HLA-DPB1*0501-associated opticospinal multiple sclerosis: clinical, neuroimaging and immunogenetic studies. | In order to clarify the relationship between the clinical phenotype and the human leucocyte antigen (HLA) in multiple sclerosis in Asians, 93 Japanese patients with clinically definite multiple sclerosis underwent clinical MRI and HLA-DPB1 gene typing studies. According to a neurological examination, 29 patients were ... | [
{
"begin_idx": "25",
"end_idx": "56",
"entity_id": "C580329",
"entity_type": "Disease",
"text_name": "opticospinal multiple sclerosis"
},
{
"begin_idx": "441",
"end_idx": "472",
"entity_id": "C580329",
"entity_type": "Disease",
"text_name": "opticospinal multiple sclerosi... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "0",
"end_idx": "8",
"entity_id": "3115",
"entity_type": "Gene",
"text_name": "HLA-DPB1"
},
{
"begin_idx": "1640",
"end_idx": "1648",
"entity_id": "3115",
"entity_type": "Gene",
"text_name": "HLA-DPB1"
}
] | [
{
"begin_idx": "516",
"end_idx": "547",
"entity_id": "D009103",
"entity_type": "Disease",
"text_name": "Western type multiple sclerosis"
},
{
"begin_idx": "1665",
"end_idx": "1696",
"entity_id": "C580329",
"entity_type": "Disease",
"text_name": "opticospinal multiple scle... | [
"HLA-DPB1",
"HLA-DPB1"
] | [
"Western type multiple sclerosis",
"opticospinal multiple sclerosis"
] |
10468973 | Association of the large multifunctional proteasome (LMP2) gene with Graves' disease is a result of linkage disequilibrium with the HLA haplotype DRB1*0304-DQB1*02-DQA1*0501. | OBJECTIVE: The large multifunctional proteasome (LMP) molecules are over expressed in thyrocytes, the target cells of Graves' disease, and the LMP genes are found within the MHC class II region. The LMP genes may therefore play a role in susceptibility to Graves' disease. The aim of this this study was to determine wh... | [
{
"begin_idx": "69",
"end_idx": "84",
"entity_id": "D006111",
"entity_type": "Disease",
"text_name": "Graves' disease"
},
{
"begin_idx": "293",
"end_idx": "308",
"entity_id": "D006111",
"entity_type": "Disease",
"text_name": "Graves' disease"
},
{
"begin_idx": "43... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "532",
"end_idx": "537",
"entity_id": "5698",
"entity_type": "Gene",
"text_name": "LMP 2"
},
{
"begin_idx": "542",
"end_idx": "547",
"entity_id": "5696",
"entity_type": "Gene",
"text_name": "LMP 7"
}
] | [
{
"begin_idx": "69",
"end_idx": "84",
"entity_id": "D006111",
"entity_type": "Disease",
"text_name": "Graves' disease"
},
{
"begin_idx": "431",
"end_idx": "446",
"entity_id": "D006111",
"entity_type": "Disease",
"text_name": "Graves' disease"
}
] | [
"LMP 2",
"LMP 7"
] | [
"Graves' disease",
"Graves' disease"
] |
10469306 | Combined analysis of polymorphisms of the tumor necrosis factor-alpha and interleukin-10 promoter regions and polymorphic xenobiotic metabolizing enzymes in psoriasis. | Environmental and genetic factors are thought to interact in the manifestation of psoriasis, but knowledge about the involved genes and antigens is incomplete. This study has focused on the association between psoriasis and inherited variations in xenobiotic metabolism and cytokine production as two components that ma... | [
{
"begin_idx": "157",
"end_idx": "166",
"entity_id": "D011565",
"entity_type": "Disease",
"text_name": "psoriasis"
},
{
"begin_idx": "250",
"end_idx": "259",
"entity_id": "D011565",
"entity_type": "Disease",
"text_name": "psoriasis"
},
{
"begin_idx": "378",
"e... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "74",
"end_idx": "88",
"entity_id": "3586",
"entity_type": "Gene",
"text_name": "interleukin-10"
},
{
"begin_idx": "2120",
"end_idx": "2147",
"entity_id": "7124",
"entity_type": "Gene",
"text_name": "tumor necrosis factor-alpha"
}
] | [
{
"begin_idx": "815",
"end_idx": "832",
"entity_id": "D011565",
"entity_type": "Disease",
"text_name": "type II psoriasis"
},
{
"begin_idx": "815",
"end_idx": "832",
"entity_id": "D011565",
"entity_type": "Disease",
"text_name": "type II psoriasis"
}
] | [
"interleukin-10",
"tumor necrosis factor-alpha"
] | [
"type II psoriasis",
"type II psoriasis"
] |
10469321 | X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T > G (Leu55Arg) | [
{
"begin_idx": "0",
"end_idx": "55",
"entity_id": "D053358",
"entity_type": "Disease",
"text_name": "X-linked anhidrotic (hypohidrotic) ectodermal dysplasia"
},
{
"begin_idx": "86",
"end_idx": "90",
"entity_id": "1896",
"entity_type": "Gene",
"text_name": "EDA1"
}
] | [
"Yes"
] | [
true
] | [
{
"begin_idx": "86",
"end_idx": "90",
"entity_id": "1896",
"entity_type": "Gene",
"text_name": "EDA1"
}
] | [
{
"begin_idx": "0",
"end_idx": "55",
"entity_id": "D053358",
"entity_type": "Disease",
"text_name": "X-linked anhidrotic (hypohidrotic) ectodermal dysplasia"
}
] | [
"EDA1"
] | [
"X-linked anhidrotic (hypohidrotic) ectodermal dysplasia"
] | |
10471058 | Cytochrome P450 CYP2D6 genotypes: association with hair colour, Breslow thickness and melanocyte stimulating hormone receptor alleles in patients with malignant melanoma. | We previously identified associations between polymorphism in the cytochrome P450 CYP2D6 gene and outcome in several cancers. We have now examined the hypothesis that homozygosity for the mutant alleles, CYP2D6*4 and CYP2D6*3, is associated with susceptibility and outcome in malignant melanoma. Outcome was assessed by... | [
{
"begin_idx": "151",
"end_idx": "169",
"entity_id": "D008545",
"entity_type": "Disease",
"text_name": "malignant melanoma"
},
{
"begin_idx": "447",
"end_idx": "465",
"entity_id": "D008545",
"entity_type": "Disease",
"text_name": "malignant melanoma"
},
{
"begin_i... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "16",
"end_idx": "22",
"entity_id": "1565",
"entity_type": "Gene",
"text_name": "CYP2D6"
},
{
"begin_idx": "1857",
"end_idx": "1861",
"entity_id": "4157",
"entity_type": "Gene",
"text_name": "MC1R"
}
] | [
{
"begin_idx": "151",
"end_idx": "169",
"entity_id": "D008545",
"entity_type": "Disease",
"text_name": "malignant melanoma"
},
{
"begin_idx": "151",
"end_idx": "169",
"entity_id": "D008545",
"entity_type": "Disease",
"text_name": "malignant melanoma"
}
] | [
"CYP2D6",
"MC1R"
] | [
"malignant melanoma",
"malignant melanoma"
] |
10471507 | Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. | Members of the CCN (for CTGF, cyr61/cef10, nov) gene family encode cysteine-rich secreted proteins with roles in cell growth and differentiation. Cell-specific and tissue-specific differences in the expression and function of different CCN family members suggest they have non-redundant roles. Using a positional-candid... | [
{
"begin_idx": "52",
"end_idx": "90",
"entity_id": "C535387",
"entity_type": "Disease",
"text_name": "progressive pseudorheumatoid dysplasia"
},
{
"begin_idx": "542",
"end_idx": "580",
"entity_id": "C535387",
"entity_type": "Disease",
"text_name": "progressive pseudorheum... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "40",
"end_idx": "45",
"entity_id": "8838",
"entity_type": "Gene",
"text_name": "WISP3"
},
{
"begin_idx": "122",
"end_idx": "127",
"entity_id": "3491",
"entity_type": "Gene",
"text_name": "cyr61"
}
] | [
{
"begin_idx": "52",
"end_idx": "90",
"entity_id": "C535387",
"entity_type": "Disease",
"text_name": "progressive pseudorheumatoid dysplasia"
},
{
"begin_idx": "582",
"end_idx": "585",
"entity_id": "C535387",
"entity_type": "Disease",
"text_name": "PPD"
}
] | [
"WISP3",
"cyr61"
] | [
"progressive pseudorheumatoid dysplasia",
"PPD"
] |
10477430 | Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT. | The two porphyrias, familial porphyria cutanea tarda (fPCT) and hepatoerythropoietic porphyria (HEP), are associated with mutations in the gene encoding the enzyme uroporphyrinogen decarboxylase (UROD). Several mutations, most of which are private, have been identified in HEP and fPCT patients, confirming the heteroge... | [
{
"begin_idx": "189",
"end_idx": "201",
"entity_id": "D017119",
"entity_type": "Disease",
"text_name": "familial PCT"
},
{
"begin_idx": "223",
"end_idx": "255",
"entity_id": "D017119",
"entity_type": "Disease",
"text_name": "familial porphyria cutanea tarda"
},
{
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "31",
"end_idx": "61",
"entity_id": "7389",
"entity_type": "Gene",
"text_name": "uroporphyrinogen decarboxylase"
},
{
"begin_idx": "1821",
"end_idx": "1825",
"entity_id": "7389",
"entity_type": "Gene",
"text_name": "UROD"
}
] | [
{
"begin_idx": "223",
"end_idx": "255",
"entity_id": "D017119",
"entity_type": "Disease",
"text_name": "familial porphyria cutanea tarda"
},
{
"begin_idx": "267",
"end_idx": "297",
"entity_id": "D017121",
"entity_type": "Disease",
"text_name": "hepatoerythropoietic porphy... | [
"uroporphyrinogen decarboxylase",
"UROD"
] | [
"familial porphyria cutanea tarda",
"hepatoerythropoietic porphyria"
] |
10477432 | Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients. | Arylsulfatase A (ARSA) deficiency is the main cause of metachromatic leukodystrophy (MLD), a lysosomal disorder with no specific treatment. In view of the importance of genetic counseling, analyses of mutations and polymorphisms, including the ARSA pseudodeficiency allele, were carried out in 18 unrelated Spanish MLD ... | [
{
"begin_idx": "156",
"end_idx": "184",
"entity_id": "D007966",
"entity_type": "Disease",
"text_name": "metachromatic leukodystrophy"
},
{
"begin_idx": "250",
"end_idx": "278",
"entity_id": "D007966",
"entity_type": "Disease",
"text_name": "metachromatic leukodystrophy"
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "70",
"end_idx": "85",
"entity_id": "410",
"entity_type": "Gene",
"text_name": "arylsulfatase A"
},
{
"begin_idx": "1578",
"end_idx": "1582",
"entity_id": "410",
"entity_type": "Gene",
"text_name": "ARSA"
}
] | [
{
"begin_idx": "156",
"end_idx": "184",
"entity_id": "D007966",
"entity_type": "Disease",
"text_name": "metachromatic leukodystrophy"
},
{
"begin_idx": "288",
"end_idx": "306",
"entity_id": "D016464",
"entity_type": "Disease",
"text_name": "lysosomal disorder"
}
] | [
"arylsulfatase A",
"ARSA"
] | [
"metachromatic leukodystrophy",
"lysosomal disorder"
] |
10477434 | Molecular basis of late-life globoid cell leukodystrophy. | Globoid cell leukodystrophy is an autosomal recessive inherited disease caused by deficiency of the lysosomal enzyme galactocerebrosidase (GALC). Although the severe, rapidly progressing infantile form is the most common, late-onset forms have been described. We investigated the molecular basis of GALC deficiency in a... | [
{
"begin_idx": "19",
"end_idx": "56",
"entity_id": "D007965",
"entity_type": "Disease",
"text_name": "late-life globoid cell leukodystrophy"
},
{
"begin_idx": "58",
"end_idx": "85",
"entity_id": "D007965",
"entity_type": "Disease",
"text_name": "Globoid cell leukodystroph... | [
"Yes",
"No"
] | [
false,
true
] | [
{
"begin_idx": "175",
"end_idx": "195",
"entity_id": "2581",
"entity_type": "Gene",
"text_name": "galactocerebrosidase"
},
{
"begin_idx": "1070",
"end_idx": "1074",
"entity_id": "2581",
"entity_type": "Gene",
"text_name": "GALC"
}
] | [
{
"begin_idx": "19",
"end_idx": "56",
"entity_id": "D007965",
"entity_type": "Disease",
"text_name": "late-life globoid cell leukodystrophy"
},
{
"begin_idx": "112",
"end_idx": "129",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "inherited disease"
}
] | [
"galactocerebrosidase",
"GALC"
] | [
"late-life globoid cell leukodystrophy",
"inherited disease"
] |
10479408 | Interleukin 10 mitigates the development of the zymosan-induced multiple organ dysfunction syndrome in mice. | We investigated the effect of interleukin 10 on the development of zymosan-induced multiple organ dysfunction syndrome (MODS) and on plasma concentrations and production capacity of tumour necrosis factor (TNF)-alpha by peritoneal cells. Groups of C57BL/6 mice received a single intraperitoneal injection with zymosan, ... | [
{
"begin_idx": "64",
"end_idx": "99",
"entity_id": "D009102",
"entity_type": "Disease",
"text_name": "multiple organ dysfunction syndrome"
},
{
"begin_idx": "192",
"end_idx": "227",
"entity_id": "D009102",
"entity_type": "Disease",
"text_name": "multiple organ dysfunction... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "0",
"end_idx": "14",
"entity_id": "3586",
"entity_type": "Gene",
"text_name": "Interleukin 10"
},
{
"begin_idx": "315",
"end_idx": "325",
"entity_id": "7124",
"entity_type": "Gene",
"text_name": "TNF)-alpha"
}
] | [
{
"begin_idx": "64",
"end_idx": "99",
"entity_id": "D009102",
"entity_type": "Disease",
"text_name": "multiple organ dysfunction syndrome"
},
{
"begin_idx": "1583",
"end_idx": "1587",
"entity_id": "D009102",
"entity_type": "Disease",
"text_name": "MODS"
}
] | [
"Interleukin 10",
"TNF)-alpha"
] | [
"multiple organ dysfunction syndrome",
"MODS"
] |
10479479 | Trimethylaminuria is caused by mutations of the FMO3 gene in a North American cohort. | Trimethylaminuria (TMAuria) (McKusick 602079) first described in 1970 is an autosomal recessive condition caused by a partial or total incapacity to catalyze the N-oxygenation of the odorous compound trimethylamine (TMA). The result is a severe body odor and associated psychosocial conditions. This inborn error of met... | [
{
"begin_idx": "0",
"end_idx": "17",
"entity_id": "C536561",
"entity_type": "Disease",
"text_name": "Trimethylaminuria"
},
{
"begin_idx": "86",
"end_idx": "103",
"entity_id": "C536561",
"entity_type": "Disease",
"text_name": "Trimethylaminuria"
},
{
"begin_idx": "... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "558",
"end_idx": "591",
"entity_id": "2328",
"entity_type": "Gene",
"text_name": "flavin-containing monooxygenase 3"
},
{
"begin_idx": "48",
"end_idx": "52",
"entity_id": "2328",
"entity_type": "Gene",
"text_name": "FMO3"
}
] | [
{
"begin_idx": "0",
"end_idx": "17",
"entity_id": "C536561",
"entity_type": "Disease",
"text_name": "Trimethylaminuria"
},
{
"begin_idx": "162",
"end_idx": "191",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "autosomal recessive condition"
}
] | [
"flavin-containing monooxygenase 3",
"FMO3"
] | [
"Trimethylaminuria",
"autosomal recessive condition"
] |
10480364 | X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset. | Adrenomyeloneuropathy (AMN) represents a milder form of X-linked adrenoleukodystrophy (ALD), the most frequent peroxisomal disorder. The disease is characterised by an abnormal accumulation of saturated, very long chain, fatty acids, because of altered peroxisomal beta-oxidation that concomitantly leads to demyelinati... | [
{
"begin_idx": "1129",
"end_idx": "1157",
"entity_id": "D000224",
"entity_type": "Disease",
"text_name": "adrenocortical insufficiency"
},
{
"begin_idx": "56",
"end_idx": "59",
"entity_id": "D000326",
"entity_type": "Disease",
"text_name": "ALD"
},
{
"begin_idx": ... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "56",
"end_idx": "59",
"entity_id": "215",
"entity_type": "Gene",
"text_name": "ALD"
},
{
"begin_idx": "1263",
"end_idx": "1266",
"entity_id": "215",
"entity_type": "Gene",
"text_name": "ALD"
}
] | [
{
"begin_idx": "190",
"end_idx": "219",
"entity_id": "D000326",
"entity_type": "Disease",
"text_name": "X-linked adrenoleukodystrophy"
},
{
"begin_idx": "0",
"end_idx": "30",
"entity_id": "D040181",
"entity_type": "Disease",
"text_name": "X-linked adrenomyeloneuropathy"
... | [
"ALD",
"ALD"
] | [
"X-linked adrenoleukodystrophy",
"X-linked adrenomyeloneuropathy"
] |
10482956 | Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation. | Infantile nephropathic cystinosis, an autosomal recessive disease characterized by a lysosomal accumulation of cystine, presents as failure to thrive, rickets and proximal renal tubular acidosis. The cystinosis gene, CTNS, which maps to chromosome 17p13, encodes a predicted 55 kDa protein with characteristics of a lys... | [
{
"begin_idx": "22",
"end_idx": "32",
"entity_id": "D003554",
"entity_type": "Disease",
"text_name": "cystinosis"
},
{
"begin_idx": "111",
"end_idx": "134",
"entity_id": "D003554",
"entity_type": "Disease",
"text_name": "nephropathic cystinosis"
},
{
"begin_idx": ... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "318",
"end_idx": "322",
"entity_id": "1497",
"entity_type": "Gene",
"text_name": "CTNS"
},
{
"begin_idx": "318",
"end_idx": "322",
"entity_id": "1497",
"entity_type": "Gene",
"text_name": "CTNS"
}
] | [
{
"begin_idx": "111",
"end_idx": "134",
"entity_id": "D003554",
"entity_type": "Disease",
"text_name": "nephropathic cystinosis"
},
{
"begin_idx": "264",
"end_idx": "295",
"entity_id": "D007674",
"entity_type": "Disease",
"text_name": "proximal renal tubular acidosis"
}... | [
"CTNS",
"CTNS"
] | [
"nephropathic cystinosis",
"proximal renal tubular acidosis"
] |
10482963 | Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene. | We describe a Swedish family with the proband and his brother suffering from severe Romano-Ward syndome (RWS) associated with compound heterozygosity for two mutations in the KVLQT1 (also known as KCNQ1 and KCNA9) gene (R518X and A525T). The mutations were found to segregate as heterozygotes in the maternal and the pa... | [
{
"begin_idx": "503",
"end_idx": "519",
"entity_id": "D008133",
"entity_type": "Disease",
"text_name": "long QT syndrome"
},
{
"begin_idx": "521",
"end_idx": "525",
"entity_id": "D008133",
"entity_type": "Disease",
"text_name": "LQTS"
},
{
"begin_idx": "962",
... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "96",
"end_idx": "102",
"entity_id": "3784",
"entity_type": "Gene",
"text_name": "KVLQT1"
},
{
"begin_idx": "96",
"end_idx": "102",
"entity_id": "3784",
"entity_type": "Gene",
"text_name": "KVLQT1"
}
] | [
{
"begin_idx": "10",
"end_idx": "30",
"entity_id": "D029597",
"entity_type": "Disease",
"text_name": "Romano-Ward syndrome"
},
{
"begin_idx": "962",
"end_idx": "966",
"entity_id": "D008133",
"entity_type": "Disease",
"text_name": "LQTS"
}
] | [
"KVLQT1",
"KVLQT1"
] | [
"Romano-Ward syndrome",
"LQTS"
] |
10484772 | Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis. | Coats' disease is characterized by abnormal retinal vascular development (so-called 'retinal telangiectasis') which results in massive intraretinal and subretinal lipid accumulation (exudative retinal detachment). The classical form of Coats' disease is almost invariably isolated, unilateral and seen in males. A femal... | [
{
"begin_idx": "549",
"end_idx": "563",
"entity_id": "C537849",
"entity_type": "Disease",
"text_name": "Norrie disease"
},
{
"begin_idx": "287",
"end_idx": "333",
"entity_id": "D006949",
"entity_type": "Disease",
"text_name": "intraretinal and subretinal lipid accumulatio... | [
"Yes",
"No"
] | [
false,
false
] | [
{
"begin_idx": "120",
"end_idx": "126",
"entity_id": "4693",
"entity_type": "Gene",
"text_name": "norrin"
},
{
"begin_idx": "99",
"end_idx": "102",
"entity_id": "4693",
"entity_type": "Gene",
"text_name": "NDP"
}
] | [
{
"begin_idx": "549",
"end_idx": "563",
"entity_id": "C537849",
"entity_type": "Disease",
"text_name": "Norrie disease"
},
{
"begin_idx": "287",
"end_idx": "333",
"entity_id": "D006949",
"entity_type": "Disease",
"text_name": "intraretinal and subretinal lipid accumulatio... | [
"norrin",
"NDP"
] | [
"Norrie disease",
"intraretinal and subretinal lipid accumulation"
] |
10486317 | Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation. | Variegate porphyria (VP) is a low-penetrance, autosomal dominant disorder characterized clinically by skin lesions and acute neurovisceral attacks that occur separately or together. It results from partial deficiency of protoporphyrinogen oxidase encoded by the PPOX gene. VP is relatively common in South Africa, where... | [
{
"begin_idx": "400",
"end_idx": "440",
"entity_id": "C538659",
"entity_type": "Disease",
"text_name": "deficiency of protoporphyrinogen oxidase"
},
{
"begin_idx": "296",
"end_idx": "308",
"entity_id": "D012871",
"entity_type": "Disease",
"text_name": "skin lesions"
},
... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "414",
"end_idx": "440",
"entity_id": "5498",
"entity_type": "Gene",
"text_name": "protoporphyrinogen oxidase"
},
{
"begin_idx": "791",
"end_idx": "795",
"entity_id": "5498",
"entity_type": "Gene",
"text_name": "PPOX"
}
] | [
{
"begin_idx": "0",
"end_idx": "19",
"entity_id": "D046350",
"entity_type": "Disease",
"text_name": "Variegate porphyria"
},
{
"begin_idx": "240",
"end_idx": "267",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "autosomal dominant disorder"
}
] | [
"protoporphyrinogen oxidase",
"PPOX"
] | [
"Variegate porphyria",
"autosomal dominant disorder"
] |
10487631 | Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations. | Two biallelic polymorphisms in introns 3 and 6 of the p53 gene were analysed for a possible risk-modifying effect for ovarian cancer. Germline DNA was genotyped from 310 German Caucasian ovarian cancer patients and 364 healthy controls. We also typed 124 affected and 276 unaffected female carriers with known deleterio... | [
{
"begin_idx": "71",
"end_idx": "85",
"entity_id": "D010051",
"entity_type": "Disease",
"text_name": "ovarian cancer"
},
{
"begin_idx": "262",
"end_idx": "276",
"entity_id": "D010051",
"entity_type": "Disease",
"text_name": "ovarian cancer"
},
{
"begin_idx": "331"... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "23",
"end_idx": "26",
"entity_id": "7157",
"entity_type": "Gene",
"text_name": "p53"
},
{
"begin_idx": "109",
"end_idx": "114",
"entity_id": "672",
"entity_type": "Gene",
"text_name": "BRCA1"
}
] | [
{
"begin_idx": "71",
"end_idx": "85",
"entity_id": "D010051",
"entity_type": "Disease",
"text_name": "ovarian cancer"
},
{
"begin_idx": "1213",
"end_idx": "1227",
"entity_id": "D010051",
"entity_type": "Disease",
"text_name": "ovarian cancer"
}
] | [
"p53",
"BRCA1"
] | [
"ovarian cancer",
"ovarian cancer"
] |
10487664 | A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia. | Two heterozygous PTH/PTH-related peptide (PTHrP) receptor missense mutations were previously identified in patients with Jansen's metaphyseal chondrodysplasia (JMC), a rare form of short limb dwarfism associated with hypercalcemia and normal or undetectable levels of PTH and PTHrP. Both mutations, H223R and T410P, res... | [
{
"begin_idx": "75",
"end_idx": "112",
"entity_id": "C537564",
"entity_type": "Disease",
"text_name": "Jansen's metaphyseal chondrodysplasia"
},
{
"begin_idx": "235",
"end_idx": "272",
"entity_id": "C537564",
"entity_type": "Disease",
"text_name": "Jansen's metaphyseal ch... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "746",
"end_idx": "764",
"entity_id": "5745",
"entity_type": "Gene",
"text_name": "PTH/PTHrP receptor"
},
{
"begin_idx": "1561",
"end_idx": "1564",
"entity_id": "5741",
"entity_type": "Gene",
"text_name": "PTH"
}
] | [
{
"begin_idx": "75",
"end_idx": "112",
"entity_id": "C537564",
"entity_type": "Disease",
"text_name": "Jansen's metaphyseal chondrodysplasia"
},
{
"begin_idx": "274",
"end_idx": "277",
"entity_id": "C537564",
"entity_type": "Disease",
"text_name": "JMC"
}
] | [
"PTH/PTHrP receptor",
"PTH"
] | [
"Jansen's metaphyseal chondrodysplasia",
"JMC"
] |
10487688 | Differences in allelic distribution of two polymorphisms in the VHL-associated gene CUL2 in pheochromocytoma patients without somatic CUL2 mutations. | Although the two major familial forms of pheochromocytomas, multiple endocrine neoplasia type 2 and von-Hippel-Lindau disease (VHL), have been associated with mutations of the RET and VHL genes, respectively, the molecular pathogenesis of sporadic pheochromocytomas is largely unknown. Recently, a putative tumor suppre... | [
{
"begin_idx": "64",
"end_idx": "67",
"entity_id": "D006623",
"entity_type": "Disease",
"text_name": "VHL"
},
{
"begin_idx": "250",
"end_idx": "275",
"entity_id": "D006623",
"entity_type": "Disease",
"text_name": "von-Hippel-Lindau disease"
},
{
"begin_idx": "277"... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "84",
"end_idx": "88",
"entity_id": "8453",
"entity_type": "Gene",
"text_name": "CUL2"
},
{
"begin_idx": "326",
"end_idx": "329",
"entity_id": "5979",
"entity_type": "Gene",
"text_name": "RET"
}
] | [
{
"begin_idx": "389",
"end_idx": "415",
"entity_id": "D010673",
"entity_type": "Disease",
"text_name": "sporadic pheochromocytomas"
},
{
"begin_idx": "556",
"end_idx": "565",
"entity_id": "D006623",
"entity_type": "Disease",
"text_name": "VHL tumor"
}
] | [
"CUL2",
"RET"
] | [
"sporadic pheochromocytomas",
"VHL tumor"
] |
10488958 | Angiotensinogen T174M and M235T gene polymorphisms are associated with the extent of coronary atherosclerosis. | BACKGROUND: The relations of the angiotensinogen (AGT) T174M and M235T gene polymorphisms to the risk of coronary heart disease (CHD) have been investigated in only a few studies with conflicting results. RESULTS: Therefore, we analysed the relationship of the AGT gene polymorphisms to the presence and extent of CHD i... | [
{
"begin_idx": "85",
"end_idx": "109",
"entity_id": "D003324",
"entity_type": "Disease",
"text_name": "coronary atherosclerosis"
},
{
"begin_idx": "216",
"end_idx": "238",
"entity_id": "D003327",
"entity_type": "Disease",
"text_name": "coronary heart disease"
},
{
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "0",
"end_idx": "15",
"entity_id": "183",
"entity_type": "Gene",
"text_name": "Angiotensinogen"
},
{
"begin_idx": "0",
"end_idx": "15",
"entity_id": "183",
"entity_type": "Gene",
"text_name": "Angiotensinogen"
}
] | [
{
"begin_idx": "85",
"end_idx": "109",
"entity_id": "D003324",
"entity_type": "Disease",
"text_name": "coronary atherosclerosis"
},
{
"begin_idx": "1126",
"end_idx": "1129",
"entity_id": "D003327",
"entity_type": "Disease",
"text_name": "CHD"
}
] | [
"Angiotensinogen",
"Angiotensinogen"
] | [
"coronary atherosclerosis",
"CHD"
] |
10489052 | Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22. | BACKGROUND: The peripheral myelin protein-22 (PMP22) gene has four transmembrane domains, two extracellular loops, and a short cytoplasmic tail. Its roles in the peripheral nervous system remain unclear. The most common cause of Charcot-Marie-Tooth neuropathy type 1A (CMT1A) is a PMP22 gene duplication. Missense point... | [
{
"begin_idx": "23",
"end_idx": "61",
"entity_id": "D002607",
"entity_type": "Disease",
"text_name": "Charcot-Marie-Tooth neuropathy type 1A"
},
{
"begin_idx": "346",
"end_idx": "384",
"entity_id": "D002607",
"entity_type": "Disease",
"text_name": "Charcot-Marie-Tooth neu... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "87",
"end_idx": "115",
"entity_id": "5376",
"entity_type": "Gene",
"text_name": "peripheral myelin protein-22"
},
{
"begin_idx": "1628",
"end_idx": "1633",
"entity_id": "5376",
"entity_type": "Gene",
"text_name": "PMP22"
}
] | [
{
"begin_idx": "23",
"end_idx": "61",
"entity_id": "D002607",
"entity_type": "Disease",
"text_name": "Charcot-Marie-Tooth neuropathy type 1A"
},
{
"begin_idx": "1394",
"end_idx": "1404",
"entity_id": "D009422",
"entity_type": "Disease",
"text_name": "neuropathy"
}
] | [
"peripheral myelin protein-22",
"PMP22"
] | [
"Charcot-Marie-Tooth neuropathy type 1A",
"neuropathy"
] |
10489105 | Quantitative association between a newly identified molecular variant in the endothelin-2 gene and human essential hypertension. | BACKGROUND: Essential hypertension is a multifactorial disease in which the genetic contribution is probably the result of a number of genes acting in combination. Recent work has incriminated endothelin-2 (ET2) as a candidate gene for human essential hypertension. This study sought to (i) determine the existence of a... | [
{
"begin_idx": "169",
"end_idx": "191",
"entity_id": "D004194",
"entity_type": "Disease",
"text_name": "multifactorial disease"
},
{
"begin_idx": "115",
"end_idx": "127",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertension"
},
{
"begin_idx... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "77",
"end_idx": "89",
"entity_id": "1907",
"entity_type": "Gene",
"text_name": "endothelin-2"
},
{
"begin_idx": "2668",
"end_idx": "2671",
"entity_id": "1907",
"entity_type": "Gene",
"text_name": "ET2"
}
] | [
{
"begin_idx": "2766",
"end_idx": "2779",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertensives"
},
{
"begin_idx": "169",
"end_idx": "191",
"entity_id": "D004194",
"entity_type": "Disease",
"text_name": "multifactorial disease"
}
] | [
"endothelin-2",
"ET2"
] | [
"hypertensives",
"multifactorial disease"
] |
10490706 | Haplotype relative risk study of catechol-O-methyltransferase (COMT) and attention deficit hyperactivity disorder (ADHD): association of the high-enzyme activity Val allele with ADHD impulsive-hyperactive phenotype. | Attention deficit hyperactivity disorder (ADHD) is a developmental syndrome expressed along three domains: inattention, hyperactive-impulsive, and combined type. Both environmental and genetic factors contribute to the etiology of this complex disease. In the current investigation, a catechol-O-methyltransferase (COMT... | [
{
"begin_idx": "83",
"end_idx": "113",
"entity_id": "D001289",
"entity_type": "Disease",
"text_name": "deficit hyperactivity disorder"
},
{
"begin_idx": "115",
"end_idx": "119",
"entity_id": "D001289",
"entity_type": "Disease",
"text_name": "ADHD"
},
{
"begin_idx"... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "33",
"end_idx": "61",
"entity_id": "1312",
"entity_type": "Gene",
"text_name": "catechol-O-methyltransferase"
},
{
"begin_idx": "1455",
"end_idx": "1459",
"entity_id": "1312",
"entity_type": "Gene",
"text_name": "COMT"
}
] | [
{
"begin_idx": "216",
"end_idx": "256",
"entity_id": "D001289",
"entity_type": "Disease",
"text_name": "Attention deficit hyperactivity disorder"
},
{
"begin_idx": "1089",
"end_idx": "1102",
"entity_id": "D006948",
"entity_type": "Disease",
"text_name": "Hyperactivity"
... | [
"catechol-O-methyltransferase",
"COMT"
] | [
"Attention deficit hyperactivity disorder",
"Hyperactivity"
] |
10490711 | Tyrosine hydroxylase polymorphism and phenotypic heterogeneity in bipolar affective disorder: a multicenter association study. | Tyrosine hydroxylase (TH), the rate-limiting enzyme in the metabolism of catecholamines, is considered a candidate gene in bipolar affective disorder (BPAD) and has been the subject of numerous linkage and association studies. Taken together, most results do not support a major gene effect for the TH gene in BPAD. Gen... | [
{
"begin_idx": "66",
"end_idx": "92",
"entity_id": "D001714",
"entity_type": "Disease",
"text_name": "bipolar affective disorder"
},
{
"begin_idx": "250",
"end_idx": "276",
"entity_id": "D001714",
"entity_type": "Disease",
"text_name": "bipolar affective disorder"
},
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "0",
"end_idx": "20",
"entity_id": "7054",
"entity_type": "Gene",
"text_name": "Tyrosine hydroxylase"
},
{
"begin_idx": "437",
"end_idx": "441",
"entity_id": "100188844",
"entity_type": "Gene",
"text_name": "BPAD"
}
] | [
{
"begin_idx": "66",
"end_idx": "92",
"entity_id": "D001714",
"entity_type": "Disease",
"text_name": "bipolar affective disorder"
},
{
"begin_idx": "437",
"end_idx": "441",
"entity_id": "D001714",
"entity_type": "Disease",
"text_name": "BPAD"
}
] | [
"Tyrosine hydroxylase",
"BPAD"
] | [
"bipolar affective disorder",
"BPAD"
] |
10490712 | Human chromosomes 11p15 and 4p12 and alcohol dependence: possible association with the GABRB1 gene. | To determine the role of genes in the chromosomal regions 11p15 and 4p12 in the development of alcohol dependence, a sample of alcoholics (n = 133) and normal controls (n = 89) were screened using polymorphisms in the dopamine D4 receptor (DRD4), tyrosine hydroxylase (TH), and GABA receptor beta1 (GABRbeta1) genes. Co... | [
{
"begin_idx": "37",
"end_idx": "55",
"entity_id": "D000437",
"entity_type": "Disease",
"text_name": "alcohol dependence"
},
{
"begin_idx": "195",
"end_idx": "213",
"entity_id": "D000437",
"entity_type": "Disease",
"text_name": "alcohol dependence"
},
{
"begin_idx... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "87",
"end_idx": "93",
"entity_id": "2560",
"entity_type": "Gene",
"text_name": "GABRB1"
},
{
"begin_idx": "340",
"end_idx": "344",
"entity_id": "1815",
"entity_type": "Gene",
"text_name": "DRD4"
}
] | [
{
"begin_idx": "37",
"end_idx": "55",
"entity_id": "D000437",
"entity_type": "Disease",
"text_name": "alcohol dependence"
},
{
"begin_idx": "909",
"end_idx": "919",
"entity_id": "D000437",
"entity_type": "Disease",
"text_name": "alcoholism"
}
] | [
"GABRB1",
"DRD4"
] | [
"alcohol dependence",
"alcoholism"
] |
10491309 | Nonpathogenic common variants of IFNGR1 and IFNGR2 in association with total serum IgE levels. | Atopy is an immune disorder in which a Th2 dominant mechanism leads to high IgE levels and the clinical disorder asthma. It has been postulated that the Th1 cytokine IFNgamma, acting through its heterodimeric receptors, IFNgammaR1 and IFNgammaR2, in the induction/proliferation of Th1 cells, might suppress the Th2 resp... | [
{
"begin_idx": "523",
"end_idx": "528",
"entity_id": "C564133",
"entity_type": "Disease",
"text_name": "atopy"
},
{
"begin_idx": "792",
"end_idx": "797",
"entity_id": "C564133",
"entity_type": "Disease",
"text_name": "atopy"
},
{
"begin_idx": "438",
"end_idx":... | [
"Yes",
"No"
] | [
false,
true
] | [
{
"begin_idx": "330",
"end_idx": "340",
"entity_id": "3460",
"entity_type": "Gene",
"text_name": "IFNgammaR2"
},
{
"begin_idx": "330",
"end_idx": "340",
"entity_id": "3460",
"entity_type": "Gene",
"text_name": "IFNgammaR2"
}
] | [
{
"begin_idx": "208",
"end_idx": "214",
"entity_id": "D001249",
"entity_type": "Disease",
"text_name": "asthma"
},
{
"begin_idx": "438",
"end_idx": "451",
"entity_id": "C565292",
"entity_type": "Disease",
"text_name": "atopic asthma"
}
] | [
"IFNgammaR2",
"IFNgammaR2"
] | [
"asthma",
"atopic asthma"
] |
10491406 | Fibroblast growth factor-2 mediates pressure-induced hypertrophic response. | In vitro, fibroblast growth factor-2 (FGF2) has been implicated in cardiomyocyte growth and reexpression of fetal contractile genes, both markers of hypertrophy. However, its in vivo role in cardiac hypertrophy during pressure overload is not well characterized. Mice with or without FGF2 (Fgf2(+/+) and Fgf2(-/-), resp... | [
{
"begin_idx": "434",
"end_idx": "452",
"entity_id": "D001017",
"entity_type": "Disease",
"text_name": "aortic coarctation"
},
{
"begin_idx": "454",
"end_idx": "456",
"entity_id": "D001017",
"entity_type": "Disease",
"text_name": "AC"
},
{
"begin_idx": "749",
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "0",
"end_idx": "26",
"entity_id": "2247",
"entity_type": "Gene",
"text_name": "Fibroblast growth factor-2"
},
{
"begin_idx": "752",
"end_idx": "756",
"entity_id": "2247",
"entity_type": "Gene",
"text_name": "Fgf2"
}
] | [
{
"begin_idx": "267",
"end_idx": "286",
"entity_id": "D006332",
"entity_type": "Disease",
"text_name": "cardiac hypertrophy"
},
{
"begin_idx": "794",
"end_idx": "805",
"entity_id": "D006984",
"entity_type": "Disease",
"text_name": "hypertrophy"
}
] | [
"Fibroblast growth factor-2",
"Fgf2"
] | [
"cardiac hypertrophy",
"hypertrophy"
] |
10494094 | Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients. | Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a rare dermatologic disorder of autosomal dominant inheritance with intraepidermal blistering after minor trauma, reticular hyperpigmentation unrelated to the blistering, nail dystrophy, and mild palmoplantar keratosis. Keratin 5 and keratin 14 are kn... | [
{
"begin_idx": "0",
"end_idx": "55",
"entity_id": "C535959",
"entity_type": "Disease",
"text_name": "Epidermolysis bullosa simplex with mottled pigmentation"
},
{
"begin_idx": "150",
"end_idx": "205",
"entity_id": "C535959",
"entity_type": "Disease",
"text_name": "Epiderm... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "119",
"end_idx": "123",
"entity_id": "3852",
"entity_type": "Gene",
"text_name": "KRT5"
},
{
"begin_idx": "652",
"end_idx": "656",
"entity_id": "3852",
"entity_type": "Gene",
"text_name": "KRT5"
}
] | [
{
"begin_idx": "0",
"end_idx": "55",
"entity_id": "C535959",
"entity_type": "Disease",
"text_name": "Epidermolysis bullosa simplex with mottled pigmentation"
},
{
"begin_idx": "414",
"end_idx": "436",
"entity_id": "D007645",
"entity_type": "Disease",
"text_name": "palmopl... | [
"KRT5",
"KRT5"
] | [
"Epidermolysis bullosa simplex with mottled pigmentation",
"palmoplantar keratosis"
] |
10500062 | Functional and ethnic association of allele 2 of the interleukin-1 receptor antagonist gene in ulcerative colitis. | BACKGROUND _ AIMS: The role of the interleukin (IL)-1 receptor antagonist (IL-1ra) in predisposing an individual to inflammatory bowel disease (IBD) is controversial. This study aimed to determine the association between intron 2 IL-1ra polymorphism and IBD by performing a multiethnic case-control study and to assess ... | [
{
"begin_idx": "95",
"end_idx": "113",
"entity_id": "D003093",
"entity_type": "Disease",
"text_name": "ulcerative colitis"
},
{
"begin_idx": "501",
"end_idx": "519",
"entity_id": "D003093",
"entity_type": "Disease",
"text_name": "ulcerative colitis"
},
{
"begin_id... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "150",
"end_idx": "188",
"entity_id": "3557",
"entity_type": "Gene",
"text_name": "interleukin (IL)-1 receptor antagonist"
},
{
"begin_idx": "345",
"end_idx": "351",
"entity_id": "3557",
"entity_type": "Gene",
"text_name": "IL-1ra"
}
] | [
{
"begin_idx": "95",
"end_idx": "113",
"entity_id": "D003093",
"entity_type": "Disease",
"text_name": "ulcerative colitis"
},
{
"begin_idx": "561",
"end_idx": "563",
"entity_id": "D003424",
"entity_type": "Disease",
"text_name": "CD"
}
] | [
"interleukin (IL)-1 receptor antagonist",
"IL-1ra"
] | [
"ulcerative colitis",
"CD"
] |
10501358 | Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los Angeles, USA. | BACKGROUND: Prostate cancer is a very common disease in more-developed countries, but its cause is largely unknown. It is an androgen-dependent cancer, and androgens have been proposed as having a substantial role in predisposition to the disease. Thus, variations in androgen metabolism genes may affect risk of this d... | [
{
"begin_idx": "276",
"end_idx": "282",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "cancer"
},
{
"begin_idx": "58",
"end_idx": "73",
"entity_id": "D011471",
"entity_type": "Disease",
"text_name": "prostate cancer"
},
{
"begin_idx": "144",
"... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "41",
"end_idx": "47",
"entity_id": "6716",
"entity_type": "Gene",
"text_name": "SRD5A2"
},
{
"begin_idx": "789",
"end_idx": "795",
"entity_id": "6716",
"entity_type": "Gene",
"text_name": "SRD5A2"
}
] | [
{
"begin_idx": "58",
"end_idx": "73",
"entity_id": "D011471",
"entity_type": "Disease",
"text_name": "prostate cancer"
},
{
"begin_idx": "276",
"end_idx": "282",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "cancer"
}
] | [
"SRD5A2",
"SRD5A2"
] | [
"prostate cancer",
"cancer"
] |
10502720 | Androgen receptor polymorphisms: association with prostate cancer risk, relapse and overall survival. | Several reports have suggested that one or both of the trinucleotide repeat polymorphisms in the human androgen receptor (hAR) gene, (CAG)n coding for polyglutamine and (GGC)n coding for polyglycine, may be associated with prostate cancer risk; but no study has investigated their association with disease progression. ... | [
{
"begin_idx": "1850",
"end_idx": "1879",
"entity_id": "D001523",
"entity_type": "Disease",
"text_name": "forecast aggressive behaviour"
},
{
"begin_idx": "862",
"end_idx": "879",
"entity_id": "D007870",
"entity_type": "Disease",
"text_name": "GGC repeat length"
},
{
... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "0",
"end_idx": "17",
"entity_id": "367",
"entity_type": "Gene",
"text_name": "Androgen receptor"
},
{
"begin_idx": "224",
"end_idx": "227",
"entity_id": "10894",
"entity_type": "Gene",
"text_name": "hAR"
}
] | [
{
"begin_idx": "653",
"end_idx": "678",
"entity_id": "D011471",
"entity_type": "Disease",
"text_name": "Caucasian prostate cancer"
},
{
"begin_idx": "1850",
"end_idx": "1879",
"entity_id": "D001523",
"entity_type": "Disease",
"text_name": "forecast aggressive behaviour"
... | [
"Androgen receptor",
"hAR"
] | [
"Caucasian prostate cancer",
"forecast aggressive behaviour"
] |
10502831 | Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency. | A deletion of at least 11.5 cM in the paternal X chromosome mapping between microsatellites DXS989 and DXS1003 and encompassing the genes for ornithine transcarbamylase (OTC), retinitis pigmentosa GTPase regulator (RPGR) and dystrophin, was associated with the loss of band Xp21 in a female patient with OTC deficiency.... | [
{
"begin_idx": "370",
"end_idx": "390",
"entity_id": "D012174",
"entity_type": "Disease",
"text_name": "retinitis pigmentosa"
},
{
"begin_idx": "178",
"end_idx": "192",
"entity_id": "D020163",
"entity_type": "Disease",
"text_name": "OTC deficiency"
},
{
"begin_idx... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "120",
"end_idx": "146",
"entity_id": "5009",
"entity_type": "Gene",
"text_name": "ornithine transcarbamylase"
},
{
"begin_idx": "682",
"end_idx": "685",
"entity_id": "5009",
"entity_type": "Gene",
"text_name": "OTC"
}
] | [
{
"begin_idx": "178",
"end_idx": "192",
"entity_id": "D020163",
"entity_type": "Disease",
"text_name": "OTC deficiency"
},
{
"begin_idx": "1480",
"end_idx": "1498",
"entity_id": "D040181",
"entity_type": "Disease",
"text_name": "X-linked condition"
}
] | [
"ornithine transcarbamylase",
"OTC"
] | [
"OTC deficiency",
"X-linked condition"
] |
10504484 | A novel 18-amino acid deletion in apolipoprotein E associated with lipoprotein glomerulopathy. | BACKGROUND: Lipoprotein glomerulopathy (LPG) is a novel disease characterized by proteinuria, lipoprotein thrombi in glomeruli, and an increased concentration of plasma apolipoprotein (apo) E. Previous studies have shown that a genetic disorder of apo E may be associated with the genesis of this disease. METHODS: An a... | [
{
"begin_idx": "67",
"end_idx": "93",
"entity_id": "C567089",
"entity_type": "Disease",
"text_name": "lipoprotein glomerulopathy"
},
{
"begin_idx": "107",
"end_idx": "133",
"entity_id": "C567089",
"entity_type": "Disease",
"text_name": "Lipoprotein glomerulopathy"
},
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "34",
"end_idx": "50",
"entity_id": "348",
"entity_type": "Gene",
"text_name": "apolipoprotein E"
},
{
"begin_idx": "525",
"end_idx": "530",
"entity_id": "348",
"entity_type": "Gene",
"text_name": "Apo E"
}
] | [
{
"begin_idx": "67",
"end_idx": "93",
"entity_id": "C567089",
"entity_type": "Disease",
"text_name": "lipoprotein glomerulopathy"
},
{
"begin_idx": "323",
"end_idx": "339",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "genetic disorder"
}
] | [
"apolipoprotein E",
"Apo E"
] | [
"lipoprotein glomerulopathy",
"genetic disorder"
] |
10505747 | Analysis of an IFN-gamma gene (IFNG) polymorphism in multiple sclerosis in Europe: effect of population structure on association with disease. | An intronic dinucleotide polymorphism in the IFN-gamma gene (IFNG) was used as a marker for testing association with multiple sclerosis (MS). Disease association was analyzed in case-control sets sampled from four geographically separate European populations (Germany, Northern Italy, Sardinia, and Sweden). Only in the... | [
{
"begin_idx": "2085",
"end_idx": "2104",
"entity_id": "D001327",
"entity_type": "Disease",
"text_name": "autoimmune diseases"
},
{
"begin_idx": "53",
"end_idx": "71",
"entity_id": "D009103",
"entity_type": "Disease",
"text_name": "multiple sclerosis"
},
{
"begin_... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "15",
"end_idx": "24",
"entity_id": "3458",
"entity_type": "Gene",
"text_name": "IFN-gamma"
},
{
"begin_idx": "870",
"end_idx": "874",
"entity_id": "3123",
"entity_type": "Gene",
"text_name": "DRB1"
}
] | [
{
"begin_idx": "53",
"end_idx": "71",
"entity_id": "D009103",
"entity_type": "Disease",
"text_name": "multiple sclerosis"
},
{
"begin_idx": "53",
"end_idx": "71",
"entity_id": "D009103",
"entity_type": "Disease",
"text_name": "multiple sclerosis"
}
] | [
"IFN-gamma",
"DRB1"
] | [
"multiple sclerosis",
"multiple sclerosis"
] |
10506123 | Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene. | Progeroid type Ehlers-Danlos (E-D) syndrome was reported to be caused by defects in galactosyltransferase I (EC 2.4.1.133), which is involved in the synthesis of common linkage regions of proteoglycans. Recently, we isolated cDNA of the galactosyltransferase I (XGalT-1) (Okajima, T., Yoshida, K., Kondo, T., and Furuka... | [
{
"begin_idx": "228",
"end_idx": "262",
"entity_id": "C536201",
"entity_type": "Disease",
"text_name": "defects in galactosyltransferase I"
},
{
"begin_idx": "45",
"end_idx": "67",
"entity_id": "D004535",
"entity_type": "Disease",
"text_name": "Ehlers-Danlos syndrome"
}... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "125",
"end_idx": "148",
"entity_id": "11285",
"entity_type": "Gene",
"text_name": "galactosyltransferase I"
},
{
"begin_idx": "1084",
"end_idx": "1091",
"entity_id": "11285",
"entity_type": "Gene",
"text_name": "XGalT-1"
}
] | [
{
"begin_idx": "228",
"end_idx": "262",
"entity_id": "C536201",
"entity_type": "Disease",
"text_name": "defects in galactosyltransferase I"
},
{
"begin_idx": "45",
"end_idx": "67",
"entity_id": "D004535",
"entity_type": "Disease",
"text_name": "Ehlers-Danlos syndrome"
}... | [
"galactosyltransferase I",
"XGalT-1"
] | [
"defects in galactosyltransferase I",
"Ehlers-Danlos syndrome"
] |
10506726 | Erythropoietin reduces anemia and transfusions: A randomized trial with or without erythropoietin during chemotherapy. | BACKGROUND: Anemia has been reported to develop during preoperative chemotherapy with paclitaxel and carboplatin. The use of recombinant human erythropoietin (EPO) has been shown to reduce anemia and subsequent packed red blood cell transfusions. The current study is a report of a Phase III, prospective, randomized tr... | [
{
"begin_idx": "23",
"end_idx": "29",
"entity_id": "D000740",
"entity_type": "Disease",
"text_name": "anemia"
},
{
"begin_idx": "131",
"end_idx": "137",
"entity_id": "D000740",
"entity_type": "Disease",
"text_name": "Anemia"
},
{
"begin_idx": "308",
"end_idx":... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "0",
"end_idx": "14",
"entity_id": "2056",
"entity_type": "Gene",
"text_name": "Erythropoietin"
},
{
"begin_idx": "278",
"end_idx": "281",
"entity_id": "2056",
"entity_type": "Gene",
"text_name": "EPO"
}
] | [
{
"begin_idx": "23",
"end_idx": "29",
"entity_id": "D000740",
"entity_type": "Disease",
"text_name": "anemia"
},
{
"begin_idx": "678",
"end_idx": "700",
"entity_id": "D008175",
"entity_type": "Disease",
"text_name": "neck or lung carcinoma"
}
] | [
"Erythropoietin",
"EPO"
] | [
"anemia",
"neck or lung carcinoma"
] |
10508506 | Familial endometrial cancer in female carriers of MSH6 germline mutations. | [
{
"begin_idx": "0",
"end_idx": "27",
"entity_id": "D016889",
"entity_type": "Disease",
"text_name": "Familial endometrial cancer"
},
{
"begin_idx": "50",
"end_idx": "54",
"entity_id": "2956",
"entity_type": "Gene",
"text_name": "MSH6"
}
] | [
"Yes"
] | [
true
] | [
{
"begin_idx": "50",
"end_idx": "54",
"entity_id": "2956",
"entity_type": "Gene",
"text_name": "MSH6"
}
] | [
{
"begin_idx": "0",
"end_idx": "27",
"entity_id": "D016889",
"entity_type": "Disease",
"text_name": "Familial endometrial cancer"
}
] | [
"MSH6"
] | [
"Familial endometrial cancer"
] | |
10508514 | Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. | Rett syndrome (RTT, MIM 312750) is a progressive neurodevelopmental disorder and one of the most common causes of mental retardation in females, with an incidence of 1 in 10,000-15,000 (ref. 2). Patients with classic RTT appear to develop normally until 6-18 months of age, then gradually lose speech and purposeful han... | [
{
"begin_idx": "1369",
"end_idx": "1390",
"entity_id": "C535434",
"entity_type": "Disease",
"text_name": "methyl-binding domain"
},
{
"begin_idx": "1392",
"end_idx": "1395",
"entity_id": "C535434",
"entity_type": "Disease",
"text_name": "MBD"
},
{
"begin_idx": "46... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "65",
"end_idx": "93",
"entity_id": "4204",
"entity_type": "Gene",
"text_name": "methyl-CpG-binding protein 2"
},
{
"begin_idx": "1237",
"end_idx": "1242",
"entity_id": "25942",
"entity_type": "Gene",
"text_name": "SIN3A"
}
] | [
{
"begin_idx": "0",
"end_idx": "13",
"entity_id": "D015518",
"entity_type": "Disease",
"text_name": "Rett syndrome"
},
{
"begin_idx": "826",
"end_idx": "829",
"entity_id": "D015518",
"entity_type": "Disease",
"text_name": "RTT"
}
] | [
"methyl-CpG-binding protein 2",
"SIN3A"
] | [
"Rett syndrome",
"RTT"
] |
10508524 | The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. | The neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous group of progressive neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigment in various tissues. Progressive epilepsy with mental retardation (EPMR, MIM 600143) was recently recognized as a new NCL subtype (C... | [
{
"begin_idx": "102",
"end_idx": "106",
"entity_id": "C537952",
"entity_type": "Disease",
"text_name": "CLN8"
},
{
"begin_idx": "426",
"end_idx": "430",
"entity_id": "C537952",
"entity_type": "Disease",
"text_name": "CLN8"
},
{
"begin_idx": "644",
"end_idx": "... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "44",
"end_idx": "48",
"entity_id": "2055",
"entity_type": "Gene",
"text_name": "EPMR"
},
{
"begin_idx": "1095",
"end_idx": "1098",
"entity_id": "4691",
"entity_type": "Gene",
"text_name": "NCL"
}
] | [
{
"begin_idx": "102",
"end_idx": "106",
"entity_id": "C537952",
"entity_type": "Disease",
"text_name": "CLN8"
},
{
"begin_idx": "644",
"end_idx": "648",
"entity_id": "C537952",
"entity_type": "Disease",
"text_name": "CLN8"
}
] | [
"EPMR",
"NCL"
] | [
"CLN8",
"CLN8"
] |
10514107 | Association between Alzheimer's disease and the NOS3 gene. | Alzheimer's disease (AD) is the most common form of neurodegenerative disorder of later life. Genetic studies have demonstrated that the apolipoprotein E (ApoE) gene is an important susceptibility locus; however, other environmental and genetic factors operating alone or in combination with ApoE must also be involved.... | [
{
"begin_idx": "20",
"end_idx": "39",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
},
{
"begin_idx": "59",
"end_idx": "78",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
},
{
"begin_idx... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "450",
"end_idx": "483",
"entity_id": "4846",
"entity_type": "Gene",
"text_name": "endothelial nitric oxide synthase"
},
{
"begin_idx": "485",
"end_idx": "489",
"entity_id": "4846",
"entity_type": "Gene",
"text_name": "NOS3"
}
] | [
{
"begin_idx": "20",
"end_idx": "39",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
},
{
"begin_idx": "111",
"end_idx": "137",
"entity_id": "D019636",
"entity_type": "Disease",
"text_name": "neurodegenerative disorder"
}
] | [
"endothelial nitric oxide synthase",
"NOS3"
] | [
"Alzheimer's disease",
"neurodegenerative disorder"
] |
10515446 | Renal protective effects of blocking the intrarenal renin-angiotensin system. | It has been well demonstrated that angiotensin-converting enzyme inhibitors (ACEIs) can retard the progression of renal failure and kidney sclerosis in patients and animal models with glomerular diseases. The aim of this study was to observe the influences of ACEI on intrarenal Ang II and TGFbeta1 local formation and ... | [
{
"begin_idx": "454",
"end_idx": "472",
"entity_id": "D005921",
"entity_type": "Disease",
"text_name": "glomerulosclerosis"
},
{
"begin_idx": "210",
"end_idx": "226",
"entity_id": "D007674",
"entity_type": "Disease",
"text_name": "kidney sclerosis"
},
{
"begin_idx... | [
"Yes",
"No"
] | [
false,
false
] | [
{
"begin_idx": "1006",
"end_idx": "1038",
"entity_id": "7040",
"entity_type": "Gene",
"text_name": "transforming growth factor-beta1"
},
{
"begin_idx": "2452",
"end_idx": "2460",
"entity_id": "7040",
"entity_type": "Gene",
"text_name": "TGFbeta1"
}
] | [
{
"begin_idx": "478",
"end_idx": "496",
"entity_id": "D009404",
"entity_type": "Disease",
"text_name": "nephrotic syndrome"
},
{
"begin_idx": "210",
"end_idx": "226",
"entity_id": "D007674",
"entity_type": "Disease",
"text_name": "kidney sclerosis"
}
] | [
"transforming growth factor-beta1",
"TGFbeta1"
] | [
"nephrotic syndrome",
"kidney sclerosis"
] |
10515860 | Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations. | Fas (CD95/Apo-1) mutations were previously reported as the genetic defect responsible for human lymphoproliferative syndrome associated with autoimmune manifestations (also known as autoimmune lymphoproliferative syndrome or Canale-Smith syndrome). We have identified 14 new heterozygous Fas mutations. Analysis of pati... | [
{
"begin_idx": "34",
"end_idx": "46",
"entity_id": "D001327",
"entity_type": "Disease",
"text_name": "autoimmunity"
},
{
"begin_idx": "1494",
"end_idx": "1516",
"entity_id": "D006942",
"entity_type": "Disease",
"text_name": "hypergammaglobulinemia"
},
{
"begin_idx... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "139",
"end_idx": "144",
"entity_id": "355",
"entity_type": "Gene",
"text_name": "Apo-1"
},
{
"begin_idx": "1534",
"end_idx": "1537",
"entity_id": "6962",
"entity_type": "Gene",
"text_name": "TcR"
}
] | [
{
"begin_idx": "311",
"end_idx": "350",
"entity_id": "D056735",
"entity_type": "Disease",
"text_name": "autoimmune lymphoproliferative syndrome"
},
{
"begin_idx": "1494",
"end_idx": "1516",
"entity_id": "D006942",
"entity_type": "Disease",
"text_name": "hypergammaglobulin... | [
"Apo-1",
"TcR"
] | [
"autoimmune lymphoproliferative syndrome",
"hypergammaglobulinemia"
] |
10519592 | Isolated sulfite oxidase deficiency: review of two cases in one family. | OBJECTIVE: The authors describe two cases of isolated sulfite oxidase deficiency found in one family. This is a rare autosomal-recessive disorder presenting at birth with seizures, severe neurologic disease, and ectopia lentis. It can be easily missed with metabolic screening; however, the finding of lens subluxation ... | [
{
"begin_idx": "9",
"end_idx": "35",
"entity_id": "C538141",
"entity_type": "Disease",
"text_name": "sulfite oxidase deficiency"
},
{
"begin_idx": "126",
"end_idx": "152",
"entity_id": "C538141",
"entity_type": "Disease",
"text_name": "sulfite oxidase deficiency"
},
{... | [
"Yes",
"No"
] | [
false,
false
] | [
{
"begin_idx": "1324",
"end_idx": "1339",
"entity_id": "6821",
"entity_type": "Gene",
"text_name": "sulfite oxidase"
},
{
"begin_idx": "1549",
"end_idx": "1564",
"entity_id": "6821",
"entity_type": "Gene",
"text_name": "sulfite oxidase"
}
] | [
{
"begin_idx": "9",
"end_idx": "35",
"entity_id": "C538141",
"entity_type": "Disease",
"text_name": "sulfite oxidase deficiency"
},
{
"begin_idx": "189",
"end_idx": "217",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "autosomal-recessive disorder"
}
] | [
"sulfite oxidase",
"sulfite oxidase"
] | [
"sulfite oxidase deficiency",
"autosomal-recessive disorder"
] |
10519734 | Comparative effects of simvastatin and cholestyramine on plasma lipoproteins and CETP in humans. | Cholesteryl ester transfer protein (CETP) mediates neutral lipid transport in plasma, resulting in a net transfer of cholesteryl ester from high density lipoprotein to very low density lipoprotein. CETP gene expression is regulated by cholesterol, and plasma CETP level increases in patients with hyperlipidemia and wit... | [
{
"begin_idx": "749",
"end_idx": "769",
"entity_id": "D006937",
"entity_type": "Disease",
"text_name": "hypercholesterolemia"
},
{
"begin_idx": "394",
"end_idx": "408",
"entity_id": "D006949",
"entity_type": "Disease",
"text_name": "hyperlipidemia"
},
{
"begin_idx... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "97",
"end_idx": "131",
"entity_id": "1071",
"entity_type": "Gene",
"text_name": "Cholesteryl ester transfer protein"
},
{
"begin_idx": "608",
"end_idx": "612",
"entity_id": "1071",
"entity_type": "Gene",
"text_name": "CETP"
}
] | [
{
"begin_idx": "394",
"end_idx": "408",
"entity_id": "D006949",
"entity_type": "Disease",
"text_name": "hyperlipidemia"
},
{
"begin_idx": "749",
"end_idx": "769",
"entity_id": "D006937",
"entity_type": "Disease",
"text_name": "hypercholesterolemia"
}
] | [
"Cholesteryl ester transfer protein",
"CETP"
] | [
"hyperlipidemia",
"hypercholesterolemia"
] |
10520641 | Association of CCR5 delta32 with reduced risk of asthma. | We report that individuals carrying the CCR5 delta32 mutation, a naturally occurring variant of the C-C chemokine receptor 5 (CCR5), are at reduced risk of developing asthma. These data suggest a possible explanation for the high prevalence of this mutation in the general population. | [
{
"begin_idx": "49",
"end_idx": "55",
"entity_id": "D001249",
"entity_type": "Disease",
"text_name": "asthma"
},
{
"begin_idx": "224",
"end_idx": "230",
"entity_id": "D001249",
"entity_type": "Disease",
"text_name": "asthma"
},
{
"begin_idx": "15",
"end_idx": ... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "157",
"end_idx": "181",
"entity_id": "1234",
"entity_type": "Gene",
"text_name": "C-C chemokine receptor 5"
}
] | [
{
"begin_idx": "49",
"end_idx": "55",
"entity_id": "D001249",
"entity_type": "Disease",
"text_name": "asthma"
}
] | [
"C-C chemokine receptor 5"
] | [
"asthma"
] |
10522893 | Evidence for the GluR6 gene associated with younger onset age of Huntington's disease. | Huntington's disease (HD) is attributed to a triplet CAG repeat mutation, and about half of the variation in onset age can be explained by the size of the repeat expansion. Recently, a TAA repeat polymorphism in close linkage to the kainate receptor, GluR6, was reported related to onset age in HD. We examined this pol... | [
{
"begin_idx": "65",
"end_idx": "85",
"entity_id": "D006816",
"entity_type": "Disease",
"text_name": "Huntington's disease"
},
{
"begin_idx": "87",
"end_idx": "107",
"entity_id": "D006816",
"entity_type": "Disease",
"text_name": "Huntington's disease"
},
{
"begin_... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "17",
"end_idx": "22",
"entity_id": "2898",
"entity_type": "Gene",
"text_name": "GluR6"
}
] | [
{
"begin_idx": "65",
"end_idx": "85",
"entity_id": "D006816",
"entity_type": "Disease",
"text_name": "Huntington's disease"
}
] | [
"GluR6"
] | [
"Huntington's disease"
] |
10522904 | Primary association of a TNF gene polymorphism with susceptibility to multiple sclerosis. | The associations of three promoter polymorphisms in the tumor necrosis factor (TNFA) gene have been studied in 238 patients and 324 control subjects. A significant correlation was found between MS susceptibility and the TNFA-376 polymorphism. This association was independent of the human leukocyte antigen (HLA) class ... | [
{
"begin_idx": "70",
"end_idx": "88",
"entity_id": "D009103",
"entity_type": "Disease",
"text_name": "multiple sclerosis"
},
{
"begin_idx": "284",
"end_idx": "286",
"entity_id": "D009103",
"entity_type": "Disease",
"text_name": "MS"
},
{
"begin_idx": "544",
"e... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "146",
"end_idx": "167",
"entity_id": "7124",
"entity_type": "Gene",
"text_name": "tumor necrosis factor"
},
{
"begin_idx": "379",
"end_idx": "411",
"entity_id": "3126",
"entity_type": "Gene",
"text_name": "leukocyte antigen (HLA) class II"
}
] | [
{
"begin_idx": "70",
"end_idx": "88",
"entity_id": "D009103",
"entity_type": "Disease",
"text_name": "multiple sclerosis"
},
{
"begin_idx": "284",
"end_idx": "286",
"entity_id": "D009103",
"entity_type": "Disease",
"text_name": "MS"
}
] | [
"tumor necrosis factor",
"leukocyte antigen (HLA) class II"
] | [
"multiple sclerosis",
"MS"
] |
10522989 | A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene. | We report a novel case of multiple endocrine neoplasia type 2A (MEN 2A) associated with two mutations of the protooncogene RET. One affects codon 634 and causes a cysteine to arginine substitution; the second at codon 640 causes an alanine to glycine substitution in the transmembrane region. The two mutations were pre... | [
{
"begin_idx": "498",
"end_idx": "503",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "tumor"
},
{
"begin_idx": "759",
"end_idx": "764",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "tumor"
},
{
"begin_idx": "969",
"end_idx":... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "16",
"end_idx": "52",
"entity_id": "5979",
"entity_type": "Gene",
"text_name": "multiple endocrine neoplasia type 2A"
},
{
"begin_idx": "713",
"end_idx": "716",
"entity_id": "5979",
"entity_type": "Gene",
"text_name": "RET"
}
] | [
{
"begin_idx": "16",
"end_idx": "52",
"entity_id": "D018813",
"entity_type": "Disease",
"text_name": "multiple endocrine neoplasia type 2A"
},
{
"begin_idx": "659",
"end_idx": "675",
"entity_id": "D010673",
"entity_type": "Disease",
"text_name": "pheochromocytoma"
}
] | [
"multiple endocrine neoplasia type 2A",
"RET"
] | [
"multiple endocrine neoplasia type 2A",
"pheochromocytoma"
] |
10523018 | Two polymorphisms in the peroxisome proliferator-activated receptor-gamma gene are associated with severe overweight among obese women. | Peroxisome proliferator-activated receptor-gamma (PPARgamma) is a nuclear receptor that regulates adipocyte differentiation. Variations in the PPARgamma gene may affect the function of the PPARgamma and, therefore, body adipocity. We investigated the frequencies of the Pro12Ala polymorphism in exon B and the silent CA... | [
{
"begin_idx": "123",
"end_idx": "128",
"entity_id": "D009765",
"entity_type": "Disease",
"text_name": "obese"
},
{
"begin_idx": "586",
"end_idx": "591",
"entity_id": "D009765",
"entity_type": "Disease",
"text_name": "obese"
},
{
"begin_idx": "623",
"end_idx":... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "25",
"end_idx": "73",
"entity_id": "5468",
"entity_type": "Gene",
"text_name": "peroxisome proliferator-activated receptor-gamma"
}
] | [
{
"begin_idx": "123",
"end_idx": "128",
"entity_id": "D009765",
"entity_type": "Disease",
"text_name": "obese"
}
] | [
"peroxisome proliferator-activated receptor-gamma"
] | [
"obese"
] |
10523339 | Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess. | Mutations in the kidney isozyme of human 11-hydroxysteroid dehydrogenase (11-HSD2) cause apparent mineralocorticoid excess, an autosomal recessive form of familial hypertension. We studied 4 patients with AME, identifying 4 novel and 3 previously reported mutations in the HSD11B2 (HSD11K) gene. Point mutations causing... | [
{
"begin_idx": "157",
"end_idx": "181",
"entity_id": "C537422",
"entity_type": "Disease",
"text_name": "mineralocorticoid excess"
},
{
"begin_idx": "281",
"end_idx": "305",
"entity_id": "C537422",
"entity_type": "Disease",
"text_name": "mineralocorticoid excess"
},
{
... | [
"Yes",
"No"
] | [
false,
false
] | [
{
"begin_idx": "456",
"end_idx": "463",
"entity_id": "3291",
"entity_type": "Gene",
"text_name": "HSD11B2"
},
{
"begin_idx": "1661",
"end_idx": "1668",
"entity_id": "3291",
"entity_type": "Gene",
"text_name": "HSD11B2"
}
] | [
{
"begin_idx": "157",
"end_idx": "181",
"entity_id": "C537422",
"entity_type": "Disease",
"text_name": "mineralocorticoid excess"
},
{
"begin_idx": "338",
"end_idx": "359",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "familial hypertension"
}
] | [
"HSD11B2",
"HSD11B2"
] | [
"mineralocorticoid excess",
"familial hypertension"
] |
10526905 | Delayed recovery of hypertension after single dose losartan in angiotensin II-infused conscious rats. | OBJECTIVE: In a conscious unrestrained rat model, it takes approximately 1 week for angiotensin II to increase blood pressure to maximum levels. We investigated the time required for hypertension to fully recover after acute angiotensin II receptor blockade in this angiotensin II dependent hypertensive model. DESIGN: ... | [
{
"begin_idx": "20",
"end_idx": "32",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertension"
},
{
"begin_idx": "285",
"end_idx": "297",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertension"
},
{
"begin_idx": "393",
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "63",
"end_idx": "77",
"entity_id": "183",
"entity_type": "Gene",
"text_name": "angiotensin II"
},
{
"begin_idx": "1782",
"end_idx": "1787",
"entity_id": "5972",
"entity_type": "Gene",
"text_name": "renin"
}
] | [
{
"begin_idx": "20",
"end_idx": "32",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertension"
},
{
"begin_idx": "20",
"end_idx": "32",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertension"
}
] | [
"angiotensin II",
"renin"
] | [
"hypertension",
"hypertension"
] |
10526907 | 825T allele of the G-protein beta3 subunit gene (GNB3) is associated with impaired left ventricular diastolic filling in essential hypertension. | OBJECTIVE: Recently, a novel C825T polymorphism in the gene (GNB3) encoding for the G-protein beta3 subunit was identified. The 825T allele is associated with the generation of a novel splice variant, enhanced intracellular signal transduction, and arterial hypertension. In this study, we investigated the impact of th... | [
{
"begin_idx": "121",
"end_idx": "143",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "essential hypertension"
},
{
"begin_idx": "403",
"end_idx": "415",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertension"
},
{
"begin_idx... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "19",
"end_idx": "34",
"entity_id": "2784",
"entity_type": "Gene",
"text_name": "G-protein beta3"
},
{
"begin_idx": "813",
"end_idx": "816",
"entity_id": "1636",
"entity_type": "Gene",
"text_name": "ACE"
}
] | [
{
"begin_idx": "2532",
"end_idx": "2558",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertensive heart disease"
},
{
"begin_idx": "2532",
"end_idx": "2558",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertensive heart disease"
... | [
"G-protein beta3",
"ACE"
] | [
"hypertensive heart disease",
"hypertensive heart disease"
] |
10528858 | Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome. | An unreported missense mutation of the ribosomal S6 kinase 2 (RSK2) gene has been identified in two male sibs with a mild form of Coffin-Lowry syndrome (CLS) inherited from their healthy mother. They exhibit transient severe hypotonia, macrocephaly, delay in closure of the fontanelles, normal gait, and mild mental ret... | [
{
"begin_idx": "645",
"end_idx": "656",
"entity_id": "C537923",
"entity_type": "Disease",
"text_name": "FG syndrome"
},
{
"begin_idx": "502",
"end_idx": "521",
"entity_id": "D000013",
"entity_type": "Disease",
"text_name": "dysmorphic features"
},
{
"begin_idx": "... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "144",
"end_idx": "165",
"entity_id": "6197",
"entity_type": "Gene",
"text_name": "ribosomal S6 kinase 2"
},
{
"begin_idx": "167",
"end_idx": "171",
"entity_id": "6197",
"entity_type": "Gene",
"text_name": "RSK2"
}
] | [
{
"begin_idx": "82",
"end_idx": "103",
"entity_id": "D038921",
"entity_type": "Disease",
"text_name": "Coffin-Lowry syndrome"
},
{
"begin_idx": "782",
"end_idx": "800",
"entity_id": "D008607",
"entity_type": "Disease",
"text_name": "mental retardation"
}
] | [
"ribosomal S6 kinase 2",
"RSK2"
] | [
"Coffin-Lowry syndrome",
"mental retardation"
] |
10533030 | Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene. | We have identified a family segregating von Hippel-Lindau (VHL) disease with a previously unreported T547A mutation in exon 1 of the VHL gene that causes a Tyr112 to Asn missense alteration in the protein. The mutation was identified by nucleotide sequencing and confirmed by restriction enzyme digestion. The mutation ... | [
{
"begin_idx": "673",
"end_idx": "693",
"entity_id": "D002292",
"entity_type": "Disease",
"text_name": "renal cell carcinoma"
},
{
"begin_idx": "1229",
"end_idx": "1249",
"entity_id": "D002292",
"entity_type": "Disease",
"text_name": "renal cell carcinoma"
},
{
"b... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "92",
"end_idx": "95",
"entity_id": "7428",
"entity_type": "Gene",
"text_name": "VHL"
},
{
"begin_idx": "235",
"end_idx": "238",
"entity_id": "7428",
"entity_type": "Gene",
"text_name": "VHL"
}
] | [
{
"begin_idx": "142",
"end_idx": "173",
"entity_id": "D006623",
"entity_type": "Disease",
"text_name": "von Hippel-Lindau (VHL) disease"
},
{
"begin_idx": "712",
"end_idx": "728",
"entity_id": "D010673",
"entity_type": "Disease",
"text_name": "pheochromocytoma"
}
] | [
"VHL",
"VHL"
] | [
"von Hippel-Lindau (VHL) disease",
"pheochromocytoma"
] |
10533863 | Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux. | BACKGROUND: A low concentration of HDL cholesterol is the most common lipoprotein abnormality in patients with premature atherosclerosis. We have shown that Tangier disease, a rare and severe form of HDL deficiency characterised by a biochemical defect in cellular cholesterol efflux, is caused by mutations in the ATP-... | [
{
"begin_idx": "159",
"end_idx": "182",
"entity_id": "D004194",
"entity_type": "Disease",
"text_name": "lipoprotein abnormality"
},
{
"begin_idx": "246",
"end_idx": "261",
"entity_id": "D013631",
"entity_type": "Disease",
"text_name": "Tangier disease"
},
{
"begin... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "462",
"end_idx": "499",
"entity_id": "19",
"entity_type": "Gene",
"text_name": "cholesterol-efflux regulatory protein"
},
{
"begin_idx": "1345",
"end_idx": "1349",
"entity_id": "19",
"entity_type": "Gene",
"text_name": "CERP"
}
] | [
{
"begin_idx": "30",
"end_idx": "53",
"entity_id": "D052456",
"entity_type": "Disease",
"text_name": "familial HDL deficiency"
},
{
"begin_idx": "246",
"end_idx": "261",
"entity_id": "D013631",
"entity_type": "Disease",
"text_name": "Tangier disease"
}
] | [
"cholesterol-efflux regulatory protein",
"CERP"
] | [
"familial HDL deficiency",
"Tangier disease"
] |
10534569 | Germline mutations in the MEN1 gene: creation of a new splice acceptor site and insertion of 7 intron nucleotides into the mRNA. | The MEN1 tumor predisposition syndrome is caused by mutations in the MEN1 gene on human chromosome 11q13. We screened MEN1 gene exons 1-10 and flanking intron sequences from four different MEN1 families for mutations. In three families, heterozygous germline mutations within the exons were found, two of these represen... | [
{
"begin_idx": "133",
"end_idx": "167",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "MEN1 tumor predisposition syndrome"
},
{
"begin_idx": "26",
"end_idx": "30",
"entity_id": "D018761",
"entity_type": "Disease",
"text_name": "MEN1"
},
{
"begin_i... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "26",
"end_idx": "30",
"entity_id": "4221",
"entity_type": "Gene",
"text_name": "MEN1"
},
{
"begin_idx": "26",
"end_idx": "30",
"entity_id": "4221",
"entity_type": "Gene",
"text_name": "MEN1"
}
] | [
{
"begin_idx": "26",
"end_idx": "30",
"entity_id": "D018761",
"entity_type": "Disease",
"text_name": "MEN1"
},
{
"begin_idx": "133",
"end_idx": "167",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "MEN1 tumor predisposition syndrome"
}
] | [
"MEN1",
"MEN1"
] | [
"MEN1",
"MEN1 tumor predisposition syndrome"
] |
10541004 | Association between a promoter polymorphism in the dopamine D2 receptor gene and schizophrenia. | Genetic factors and dopamine receptor dysfunction have been implicated in the pathophysiology of schizophrenia. Recently, an association between a putative functional promoter polymorphism (-141C Ins/Del) in the dopamine D2 receptor gene and schizophrenia was reported. We investigated unrelated Swedish schizophrenic p... | [
{
"begin_idx": "81",
"end_idx": "94",
"entity_id": "D012559",
"entity_type": "Disease",
"text_name": "schizophrenia"
},
{
"begin_idx": "193",
"end_idx": "206",
"entity_id": "D012559",
"entity_type": "Disease",
"text_name": "schizophrenia"
},
{
"begin_idx": "338",
... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "51",
"end_idx": "71",
"entity_id": "1813",
"entity_type": "Gene",
"text_name": "dopamine D2 receptor"
}
] | [
{
"begin_idx": "81",
"end_idx": "94",
"entity_id": "D012559",
"entity_type": "Disease",
"text_name": "schizophrenia"
}
] | [
"dopamine D2 receptor"
] | [
"schizophrenia"
] |
10544227 | Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. | In this study, we report further results of mutation analysis of the ATP7B gene in Wilson disease (WD) patients of Mediterranean origin. A total of 136 WD chromosomes, 73 of which were of Italian, 43 of Turkish, 18 of Sardinian, and two of Spanish origin, were analysed and the mutation characterised in 84.5% of them. ... | [
{
"begin_idx": "60",
"end_idx": "74",
"entity_id": "D006527",
"entity_type": "Disease",
"text_name": "Wilson disease"
},
{
"begin_idx": "197",
"end_idx": "211",
"entity_id": "D006527",
"entity_type": "Disease",
"text_name": "Wilson disease"
},
{
"begin_idx": "213"... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "183",
"end_idx": "188",
"entity_id": "540",
"entity_type": "Gene",
"text_name": "ATP7B"
}
] | [
{
"begin_idx": "60",
"end_idx": "74",
"entity_id": "D006527",
"entity_type": "Disease",
"text_name": "Wilson disease"
}
] | [
"ATP7B"
] | [
"Wilson disease"
] |
10544909 | A flow cytometric assay of platelet activation marker P-selectin (CD62P) distinguishes heparin-induced thrombocytopenia (HIT) from HIT with thrombosis (HITT). | Heparin induced thrombocytopenia (HIT) is a well-known complication of heparin administration but usually resolves upon discontinuation without sequelae. However, a small proportion of HIT patients develop thrombosis associated with HIT, designated as HITT, which is often life-threatening and may lead to gangrene and ... | [
{
"begin_idx": "103",
"end_idx": "119",
"entity_id": "D013921",
"entity_type": "Disease",
"text_name": "thrombocytopenia"
},
{
"begin_idx": "121",
"end_idx": "124",
"entity_id": "D013921",
"entity_type": "Disease",
"text_name": "HIT"
},
{
"begin_idx": "131",
"... | [
"Yes",
"No"
] | [
false,
true
] | [
{
"begin_idx": "54",
"end_idx": "64",
"entity_id": "6403",
"entity_type": "Gene",
"text_name": "P-selectin"
},
{
"begin_idx": "66",
"end_idx": "71",
"entity_id": "6403",
"entity_type": "Gene",
"text_name": "CD62P"
}
] | [
{
"begin_idx": "365",
"end_idx": "375",
"entity_id": "D013927",
"entity_type": "Disease",
"text_name": "thrombosis"
},
{
"begin_idx": "822",
"end_idx": "826",
"entity_id": "D013921",
"entity_type": "Disease",
"text_name": "HITT"
}
] | [
"P-selectin",
"CD62P"
] | [
"thrombosis",
"HITT"
] |
10544980 | Norrie disease and exudative vitreoretinopathy in families with affected female carriers. | PURPOSE: Norrie disease (ND) is a rare X-linked recessive disorder characterized by congenital blindness, which is often associated with sensorineural hearing loss and mental retardation. X-linked familial exudative vitreoretinopathy (FEVR) is a hereditary disorder characterized by an abnormality of the peripheral ret... | [
{
"begin_idx": "174",
"end_idx": "194",
"entity_id": "C536600",
"entity_type": "Disease",
"text_name": "congenital blindness"
},
{
"begin_idx": "693",
"end_idx": "713",
"entity_id": "C536600",
"entity_type": "Disease",
"text_name": "congenital blindness"
},
{
"beg... | [
"Yes",
"No"
] | [
false,
false
] | [
{
"begin_idx": "325",
"end_idx": "329",
"entity_id": "4693",
"entity_type": "Gene",
"text_name": "FEVR"
},
{
"begin_idx": "325",
"end_idx": "329",
"entity_id": "4693",
"entity_type": "Gene",
"text_name": "FEVR"
}
] | [
{
"begin_idx": "0",
"end_idx": "14",
"entity_id": "C537849",
"entity_type": "Disease",
"text_name": "Norrie disease"
},
{
"begin_idx": "598",
"end_idx": "615",
"entity_id": "D040181",
"entity_type": "Disease",
"text_name": "X-linked disorder"
}
] | [
"FEVR",
"FEVR"
] | [
"Norrie disease",
"X-linked disorder"
] |
10545420 | Strain-dependent lung tumor formation in mice transplacentally exposed to 3-methylcholanthrene and post-natally exposed to butylated hydroxytoluene. | The carcinogenic effects of in utero exposure to 3-methylcholanthrene (MC) have been demonstrated in the tumor-resistant C57BL/6 (B6) and DBA (D2) strains of mice. In this study, we determined the effects of in utero exposure to MC in BALB/c mice, a strain which demonstrates greater susceptibility to lung tumor induct... | [
{
"begin_idx": "1297",
"end_idx": "1305",
"entity_id": "D000236",
"entity_type": "Disease",
"text_name": "adenomas"
},
{
"begin_idx": "1328",
"end_idx": "1338",
"entity_id": "D002277",
"entity_type": "Disease",
"text_name": "carcinomas"
},
{
"begin_idx": "1264",
... | [
"Yes",
"Yes",
"No",
"No"
] | [
true,
false,
true,
true
] | [
{
"begin_idx": "916",
"end_idx": "922",
"entity_id": "3845",
"entity_type": "Gene",
"text_name": "Ki-ras"
},
{
"begin_idx": "916",
"end_idx": "922",
"entity_id": "3845",
"entity_type": "Gene",
"text_name": "Ki-ras"
},
{
"begin_idx": "2940",
"end_idx": "2946",
... | [
{
"begin_idx": "0",
"end_idx": "27",
"entity_id": "D008175",
"entity_type": "Disease",
"text_name": "Strain-dependent lung tumor"
},
{
"begin_idx": "1297",
"end_idx": "1305",
"entity_id": "D000236",
"entity_type": "Disease",
"text_name": "adenomas"
},
{
"begin_idx... | [
"Ki-ras",
"Ki-ras",
"Ki-ras",
"Ki-ras"
] | [
"Strain-dependent lung tumor",
"adenomas",
"tumor",
"tumor"
] |
10545596 | Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1. | ENDOGLIN codes for a homodimeric membrane glycoprotein that interacts with receptors for members of the TGF-beta superfamily and is the gene mutated in the autosomal dominant vascular disorder hereditary hemorrhagic telangiectasia type 1 (HHT1). We recently demonstrated that functional endoglin was expressed at half l... | [
{
"begin_idx": "122",
"end_idx": "166",
"entity_id": "D013683",
"entity_type": "Disease",
"text_name": "hereditary hemorrhagic telangiectasia type 1"
},
{
"begin_idx": "361",
"end_idx": "405",
"entity_id": "D013683",
"entity_type": "Disease",
"text_name": "hereditary hemo... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "28",
"end_idx": "36",
"entity_id": "2022",
"entity_type": "Gene",
"text_name": "endoglin"
},
{
"begin_idx": "455",
"end_idx": "463",
"entity_id": "2022",
"entity_type": "Gene",
"text_name": "endoglin"
}
] | [
{
"begin_idx": "122",
"end_idx": "166",
"entity_id": "D013683",
"entity_type": "Disease",
"text_name": "hereditary hemorrhagic telangiectasia type 1"
},
{
"begin_idx": "324",
"end_idx": "360",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "autosomal domin... | [
"endoglin",
"endoglin"
] | [
"hereditary hemorrhagic telangiectasia type 1",
"autosomal dominant vascular disorder"
] |
10545605 | Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency. | Serum free-carnitine levels were determined in 973 unrelated white collar workers in Akita, Japan. Fourteen of these participants consistently had serum free-carnitine levels below the fifth percentile (28 microM for females and 38 microM for males). The OCTN2 (organic cation transporter) gene was sequenced for these ... | [
{
"begin_idx": "145",
"end_idx": "182",
"entity_id": "C536778",
"entity_type": "Disease",
"text_name": "primary systemic carnitine deficiency"
},
{
"begin_idx": "1371",
"end_idx": "1408",
"entity_id": "C536778",
"entity_type": "Disease",
"text_name": "primary systemic car... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "50",
"end_idx": "55",
"entity_id": "6584",
"entity_type": "Gene",
"text_name": "OCTN2"
},
{
"begin_idx": "1570",
"end_idx": "1575",
"entity_id": "6584",
"entity_type": "Gene",
"text_name": "OCTN2"
}
] | [
{
"begin_idx": "145",
"end_idx": "182",
"entity_id": "C536778",
"entity_type": "Disease",
"text_name": "primary systemic carnitine deficiency"
},
{
"begin_idx": "1617",
"end_idx": "1643",
"entity_id": "D006332",
"entity_type": "Disease",
"text_name": "benign cardiac hyper... | [
"OCTN2",
"OCTN2"
] | [
"primary systemic carnitine deficiency",
"benign cardiac hypertrophy"
] |
10545612 | CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. | Cleidocranial dysplasia (CCD) is a dominantly inherited skeletal dysplasia caused by mutations in the osteoblast-specific transcription factor CBFA1. To correlate CBFA1 mutations in different functional domains with the CCD clinical spectrum, we studied 26 independent cases of CCD and a total of 16 new mutations were ... | [
{
"begin_idx": "82",
"end_idx": "105",
"entity_id": "D002973",
"entity_type": "Disease",
"text_name": "cleidocranial dysplasia"
},
{
"begin_idx": "107",
"end_idx": "130",
"entity_id": "D002973",
"entity_type": "Disease",
"text_name": "Cleidocranial dysplasia"
},
{
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "0",
"end_idx": "5",
"entity_id": "860",
"entity_type": "Gene",
"text_name": "CBFA1"
},
{
"begin_idx": "0",
"end_idx": "5",
"entity_id": "860",
"entity_type": "Gene",
"text_name": "CBFA1"
}
] | [
{
"begin_idx": "82",
"end_idx": "105",
"entity_id": "D002973",
"entity_type": "Disease",
"text_name": "cleidocranial dysplasia"
},
{
"begin_idx": "1523",
"end_idx": "1547",
"entity_id": "D014071",
"entity_type": "Disease",
"text_name": "primary dental anomalies"
}
] | [
"CBFA1",
"CBFA1"
] | [
"cleidocranial dysplasia",
"primary dental anomalies"
] |
10545953 | Perlecan is essential for cartilage and cephalic development. | Perlecan, a large, multi-domain, heparan sulfate proteoglycan originally identified in basement membrane, interacts with extracellular matrix proteins, growth factors and receptors, and influences cellular signalling. Perlecan is present in a variety of basement membranes and in other extracellular matrix structures. ... | [
{
"begin_idx": "601",
"end_idx": "619",
"entity_id": "C535662",
"entity_type": "Disease",
"text_name": "skeletal dysplasia"
},
{
"begin_idx": "767",
"end_idx": "778",
"entity_id": "D009436",
"entity_type": "Disease",
"text_name": "exencephaly"
},
{
"begin_idx": "7... | [
"Yes",
"Yes",
"No",
"No"
] | [
true,
true,
true,
true
] | [
{
"begin_idx": "427",
"end_idx": "432",
"entity_id": "3339",
"entity_type": "Gene",
"text_name": "Hspg2"
},
{
"begin_idx": "427",
"end_idx": "432",
"entity_id": "3339",
"entity_type": "Gene",
"text_name": "Hspg2"
},
{
"begin_idx": "738",
"end_idx": "743",
... | [
{
"begin_idx": "783",
"end_idx": "799",
"entity_id": "D010009",
"entity_type": "Disease",
"text_name": "chondrodysplasia"
},
{
"begin_idx": "699",
"end_idx": "725",
"entity_id": "D019465",
"entity_type": "Disease",
"text_name": "craniofacial abnormalities"
},
{
"b... | [
"Hspg2",
"Hspg2",
"Hspg2",
"Fgfr3"
] | [
"chondrodysplasia",
"craniofacial abnormalities",
"thanatophoric dysplasia",
"thanatophoric dysplasia"
] |
10546209 | [T174M polymorphism of angiotensinogen gene in Moscow population is associated with hypertension]. | [
{
"begin_idx": "84",
"end_idx": "96",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertension"
},
{
"begin_idx": "23",
"end_idx": "38",
"entity_id": "183",
"entity_type": "Gene",
"text_name": "angiotensinogen"
}
] | [
"Yes"
] | [
true
] | [
{
"begin_idx": "23",
"end_idx": "38",
"entity_id": "183",
"entity_type": "Gene",
"text_name": "angiotensinogen"
}
] | [
{
"begin_idx": "84",
"end_idx": "96",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertension"
}
] | [
"angiotensinogen"
] | [
"hypertension"
] | |
10547078 | Overexpression of insulin-like growth factor-I in hearts of rats with isoproterenol-induced cardiac hypertrophy. | Increased levels of plasma catecholamine lead to cardiac hypertrophy via the alpha-, beta-adrenergic receptors, and partially, type 1 angiotensin II (AT1) receptor. However, it remains unclear whether other factors are involved in catecholamine-induced cardiac hypertrophy. We investigated the expression of insulin-lik... | [
{
"begin_idx": "92",
"end_idx": "111",
"entity_id": "D006332",
"entity_type": "Disease",
"text_name": "cardiac hypertrophy"
},
{
"begin_idx": "162",
"end_idx": "181",
"entity_id": "D006332",
"entity_type": "Disease",
"text_name": "cardiac hypertrophy"
},
{
"begin_... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "421",
"end_idx": "455",
"entity_id": "3479",
"entity_type": "Gene",
"text_name": "insulin-like growth factor (IGF)-I"
}
] | [
{
"begin_idx": "92",
"end_idx": "111",
"entity_id": "D006332",
"entity_type": "Disease",
"text_name": "cardiac hypertrophy"
}
] | [
"insulin-like growth factor (IGF)-I"
] | [
"cardiac hypertrophy"
] |
10547998 | [Molecular variants of the human angiotensinogen gene associated with essential hypertension]. | [
{
"begin_idx": "80",
"end_idx": "92",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertension"
},
{
"begin_idx": "33",
"end_idx": "48",
"entity_id": "183",
"entity_type": "Gene",
"text_name": "angiotensinogen"
}
] | [
"Yes"
] | [
true
] | [
{
"begin_idx": "33",
"end_idx": "48",
"entity_id": "183",
"entity_type": "Gene",
"text_name": "angiotensinogen"
}
] | [
{
"begin_idx": "80",
"end_idx": "92",
"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertension"
}
] | [
"angiotensinogen"
] | [
"hypertension"
] | |
10548319 | Association between a CYP3A4 genetic variant and clinical presentation in African-American prostate cancer patients. | Prostate cancer incidence, clinical presentation, and mortality rates vary among different ethnic groups. A genetic variant of CYP3A4, a gene involved in the oxidative deactivation of testosterone, has been associated recently with prostate cancer development in Caucasians. To further investigate this variant, we eval... | [
{
"begin_idx": "91",
"end_idx": "106",
"entity_id": "D011471",
"entity_type": "Disease",
"text_name": "prostate cancer"
},
{
"begin_idx": "117",
"end_idx": "132",
"entity_id": "D011471",
"entity_type": "Disease",
"text_name": "Prostate cancer"
},
{
"begin_idx": "3... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "22",
"end_idx": "28",
"entity_id": "1576",
"entity_type": "Gene",
"text_name": "CYP3A4"
}
] | [
{
"begin_idx": "2282",
"end_idx": "2306",
"entity_id": "D011471",
"entity_type": "Disease",
"text_name": "advanced prostate cancer"
}
] | [
"CYP3A4"
] | [
"advanced prostate cancer"
] |
10549825 | The L392V mutation of presenilin 1 associated with autosomal dominant early-onset Alzheimer's disease alters the secondary structure of the hydrophilic loop. | Autosomal dominant early-onset Alzheimer's disease results mainly from mutations of the presenilin 1 (PSEN1) gene, which codes for an integral membrane protein of 467 amino acids. The hydrophilic loop (amino acids 263-407) of PSEN1, in which many pathogenic mutations have been localized, appears to be crucial for the ... | [
{
"begin_idx": "82",
"end_idx": "101",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
},
{
"begin_idx": "189",
"end_idx": "208",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
},
{
"begin_... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "22",
"end_idx": "34",
"entity_id": "5663",
"entity_type": "Gene",
"text_name": "presenilin 1"
}
] | [
{
"begin_idx": "82",
"end_idx": "101",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
}
] | [
"presenilin 1"
] | [
"Alzheimer's disease"
] |
10551543 | Association study between high and low activity polymorphism of catechol-O-methyltransferase gene and alcoholism. | Catechol-O-methyltransferase (COMT) is a key modulator of dopaminergic and noradrenergic neurotransmission. There is a functional polymorphism of the COMT gene, Val108Met in the soluble form of the enzyme (Val158Met in the membrane-bound form). Involvement of the dopaminergic systems in alcoholism has been suggested i... | [
{
"begin_idx": "102",
"end_idx": "112",
"entity_id": "D000437",
"entity_type": "Disease",
"text_name": "alcoholism"
},
{
"begin_idx": "402",
"end_idx": "412",
"entity_id": "D000437",
"entity_type": "Disease",
"text_name": "alcoholism"
},
{
"begin_idx": "507",
... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "64",
"end_idx": "92",
"entity_id": "1312",
"entity_type": "Gene",
"text_name": "catechol-O-methyltransferase"
},
{
"begin_idx": "144",
"end_idx": "148",
"entity_id": "1312",
"entity_type": "Gene",
"text_name": "COMT"
}
] | [
{
"begin_idx": "102",
"end_idx": "112",
"entity_id": "D000437",
"entity_type": "Disease",
"text_name": "alcoholism"
},
{
"begin_idx": "718",
"end_idx": "738",
"entity_id": "D001523",
"entity_type": "Disease",
"text_name": "antisocial behaviors"
}
] | [
"catechol-O-methyltransferase",
"COMT"
] | [
"alcoholism",
"antisocial behaviors"
] |
10555044 | Possible association of fibromyalgia with a polymorphism in the serotonin transporter gene regulatory region. | OBJECTIVE: To analyze the genotypes of the promoter region of the serotonin transporter gene (5-HTT) in patients with fibromyalgia (FM). METHODS: Genomic DNA from 62 patients meeting the American College of Rheumatology 1990 criteria for FM and 110 healthy controls was analyzed by polymerase chain reaction. Additional... | [
{
"begin_idx": "1044",
"end_idx": "1054",
"entity_id": "D003866",
"entity_type": "Disease",
"text_name": "depression"
},
{
"begin_idx": "24",
"end_idx": "36",
"entity_id": "D005356",
"entity_type": "Disease",
"text_name": "fibromyalgia"
},
{
"begin_idx": "228",
... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "64",
"end_idx": "85",
"entity_id": "6532",
"entity_type": "Gene",
"text_name": "serotonin transporter"
},
{
"begin_idx": "176",
"end_idx": "197",
"entity_id": "6532",
"entity_type": "Gene",
"text_name": "serotonin transporter"
}
] | [
{
"begin_idx": "24",
"end_idx": "36",
"entity_id": "D005356",
"entity_type": "Disease",
"text_name": "fibromyalgia"
},
{
"begin_idx": "1044",
"end_idx": "1054",
"entity_id": "D003866",
"entity_type": "Disease",
"text_name": "depression"
}
] | [
"serotonin transporter",
"serotonin transporter"
] | [
"fibromyalgia",
"depression"
] |
10556270 | Polymorphisms within the interleukin-10 receptor cDNA gene (IL10R) in Japanese patients with systemic lupus erythematosus. | OBJECTIVE: To assess the association between polymorphisms within the interleukin-10 receptor cDNA gene (IL10R) and systemic erythematosus (SLE) in Japanese people. METHOD: We examined the IL-10 receptor genotype of 109 SLE patients and 102 healthy subjects by the reverse transcription-polymerase chain reaction-restri... | [
{
"begin_idx": "93",
"end_idx": "121",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "systemic lupus erythematosus"
},
{
"begin_idx": "263",
"end_idx": "266",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "SLE"
},
{
"begin_idx": "... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "312",
"end_idx": "317",
"entity_id": "3586",
"entity_type": "Gene",
"text_name": "IL-10"
},
{
"begin_idx": "539",
"end_idx": "544",
"entity_id": "3587",
"entity_type": "Gene",
"text_name": "IL10R"
}
] | [
{
"begin_idx": "93",
"end_idx": "121",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "systemic lupus erythematosus"
},
{
"begin_idx": "343",
"end_idx": "346",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "SLE"
}
] | [
"IL-10",
"IL10R"
] | [
"systemic lupus erythematosus",
"SLE"
] |
10556299 | Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. | Infantile nephropathic cystinosis is a rare, autosomal recessive disease caused by a defect in the transport of cystine across the lysosomal membrane and characterized by early onset of renal proximal tubular dysfunction. Late-onset cystinosis, a rarer form of the disorder, is characterized by onset of symptoms betwee... | [
{
"begin_idx": "574",
"end_idx": "607",
"entity_id": "C565655",
"entity_type": "Disease",
"text_name": "infantile nephropathic cystinosis"
},
{
"begin_idx": "922",
"end_idx": "955",
"entity_id": "C565655",
"entity_type": "Disease",
"text_name": "infantile nephropathic cys... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "65",
"end_idx": "69",
"entity_id": "1497",
"entity_type": "Gene",
"text_name": "CTNS"
},
{
"begin_idx": "1094",
"end_idx": "1098",
"entity_id": "1497",
"entity_type": "Gene",
"text_name": "CTNS"
}
] | [
{
"begin_idx": "131",
"end_idx": "154",
"entity_id": "D003554",
"entity_type": "Disease",
"text_name": "nephropathic cystinosis"
},
{
"begin_idx": "1148",
"end_idx": "1181",
"entity_id": "C565655",
"entity_type": "Disease",
"text_name": "infantile nephropathic cystinosis"... | [
"CTNS",
"CTNS"
] | [
"nephropathic cystinosis",
"infantile nephropathic cystinosis"
] |
10558867 | Association of the estrogen receptor alpha gene polymorphisms with sporadic Alzheimer's disease. | Alzheimer's disease (AD) is a multifactorial disorder determined by the interaction of genetic, metabolic, and environmental factors. In the common late-onset familial and sporadic forms of AD apolipoprotein E type 4 allele (APOE-epsilon4) is now widely accepted as a major risk factor. The association of estrogen trea... | [
{
"begin_idx": "76",
"end_idx": "95",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
},
{
"begin_idx": "97",
"end_idx": "116",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
},
{
"begin_id... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "19",
"end_idx": "42",
"entity_id": "2099",
"entity_type": "Gene",
"text_name": "estrogen receptor alpha"
},
{
"begin_idx": "1687",
"end_idx": "1691",
"entity_id": "348",
"entity_type": "Gene",
"text_name": "APOE"
}
] | [
{
"begin_idx": "76",
"end_idx": "95",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
},
{
"begin_idx": "1368",
"end_idx": "1370",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "AD"
}
] | [
"estrogen receptor alpha",
"APOE"
] | [
"Alzheimer's disease",
"AD"
] |
10559218 | Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function. | Novel organic cation transporter (OCTN2) is an organic cation/carnitine transporter, and two missense mutations, L352R and P478L, in OCTN2 have been identified as the cause for primary carnitine deficiency. In the present study, we assessed the influence of these two mutations on the carnitine transport function and t... | [
{
"begin_idx": "386",
"end_idx": "406",
"entity_id": "C536778",
"entity_type": "Disease",
"text_name": "carnitine deficiency"
},
{
"begin_idx": "1658",
"end_idx": "1678",
"entity_id": "C536778",
"entity_type": "Disease",
"text_name": "carnitine deficiency"
},
{
"b... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "47",
"end_idx": "52",
"entity_id": "6584",
"entity_type": "Gene",
"text_name": "OCTN2"
}
] | [
{
"begin_idx": "386",
"end_idx": "406",
"entity_id": "C536778",
"entity_type": "Disease",
"text_name": "carnitine deficiency"
}
] | [
"OCTN2"
] | [
"carnitine deficiency"
] |
10561141 | Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing. | X-linked Alport's syndrome is caused by mutations in the COL4A5 gene encoding the type IV collagen alpha5 chain (alpha5[IV]). Polymerase chain reaction-single-str and conformation polymorphism (PCR-SSCP) on genomic DNA has previously been used to screen for mutations in the COL4A5 gene, but this method was relatively ... | [
{
"begin_idx": "76",
"end_idx": "102",
"entity_id": "D009394",
"entity_type": "Disease",
"text_name": "X-linked Alport's syndrome"
},
{
"begin_idx": "136",
"end_idx": "162",
"entity_id": "D009394",
"entity_type": "Disease",
"text_name": "X-linked Alport's syndrome"
},
... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "30",
"end_idx": "36",
"entity_id": "1287",
"entity_type": "Gene",
"text_name": "COL4A5"
}
] | [
{
"begin_idx": "76",
"end_idx": "102",
"entity_id": "D009394",
"entity_type": "Disease",
"text_name": "X-linked Alport's syndrome"
}
] | [
"COL4A5"
] | [
"X-linked Alport's syndrome"
] |
10563487 | Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients. | [
{
"begin_idx": "52",
"end_idx": "67",
"entity_id": "D009394",
"entity_type": "Disease",
"text_name": "Alport syndrome"
},
{
"begin_idx": "29",
"end_idx": "35",
"entity_id": "1287",
"entity_type": "Gene",
"text_name": "COL4A5"
}
] | [
"Yes"
] | [
true
] | [
{
"begin_idx": "29",
"end_idx": "35",
"entity_id": "1287",
"entity_type": "Gene",
"text_name": "COL4A5"
}
] | [
{
"begin_idx": "52",
"end_idx": "67",
"entity_id": "D009394",
"entity_type": "Disease",
"text_name": "Alport syndrome"
}
] | [
"COL4A5"
] | [
"Alport syndrome"
] | |
10563634 | APOE-epsilon4 is associated with less frontal and more medial temporal lobe atrophy in AD. | OBJECTIVE: To test the hypothesis that the e4 allele of APOE is associated with a region-specific pattern of brain atrophy in AD. METHODS: Volumes of the hippocampi, entorhinal cortices, and anterior temporal and frontal lobes were measured in 28 mild to moderate AD patients and 30 controls using MRI. Within the AD gr... | [
{
"begin_idx": "200",
"end_idx": "213",
"entity_id": "C566985",
"entity_type": "Disease",
"text_name": "brain atrophy"
},
{
"begin_idx": "87",
"end_idx": "89",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "AD"
},
{
"begin_idx": "217",
"end_id... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "0",
"end_idx": "4",
"entity_id": "348",
"entity_type": "Gene",
"text_name": "APOE"
},
{
"begin_idx": "1356",
"end_idx": "1360",
"entity_id": "348",
"entity_type": "Gene",
"text_name": "APOE"
}
] | [
{
"begin_idx": "87",
"end_idx": "89",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "AD"
},
{
"begin_idx": "200",
"end_idx": "213",
"entity_id": "C566985",
"entity_type": "Disease",
"text_name": "brain atrophy"
}
] | [
"APOE",
"APOE"
] | [
"AD",
"brain atrophy"
] |
10564334 | Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene. | Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant disorder of keratinization. It is characterized by a mild epidermolytic ichthyosis which tends to localize to the flexures. Affected individuals are born with widespread blistering, which develops into large hyperkeratotic plaques over the extremities. Mutat... | [
{
"begin_idx": "247",
"end_idx": "271",
"entity_id": "D017488",
"entity_type": "Disease",
"text_name": "epidermolytic ichthyosis"
},
{
"begin_idx": "474",
"end_idx": "502",
"entity_id": "D017488",
"entity_type": "Disease",
"text_name": "epidermolytic hyperkeratosis"
},
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "111",
"end_idx": "121",
"entity_id": "3849",
"entity_type": "Gene",
"text_name": "keratin 2e"
},
{
"begin_idx": "761",
"end_idx": "771",
"entity_id": "3849",
"entity_type": "Gene",
"text_name": "keratin 2e"
}
] | [
{
"begin_idx": "0",
"end_idx": "29",
"entity_id": "D053560",
"entity_type": "Disease",
"text_name": "Ichthyosis bullosa of Siemens"
},
{
"begin_idx": "474",
"end_idx": "502",
"entity_id": "D017488",
"entity_type": "Disease",
"text_name": "epidermolytic hyperkeratosis"
}... | [
"keratin 2e",
"keratin 2e"
] | [
"Ichthyosis bullosa of Siemens",
"epidermolytic hyperkeratosis"
] |
10566598 | Influence of TNF microsatellite polymorphisms (TNFa) on age-at-onset of insulin-dependent diabetes mellitus. | The TNF-alpha gene is located in the HLA region and has been implicated in the pathogenesis of Type I (insulin-dependent) diabetes mellitus (IDDM). We investigated the frequency of TNFa microsatellite alleles in 76 young-onset IDDM patients, 65 adult-onset IDDM patients, and 90 control subjects. We also examined the a... | [
{
"begin_idx": "72",
"end_idx": "107",
"entity_id": "D003922",
"entity_type": "Disease",
"text_name": "insulin-dependent diabetes mellitus"
},
{
"begin_idx": "204",
"end_idx": "248",
"entity_id": "D003922",
"entity_type": "Disease",
"text_name": "Type I (insulin-dependent... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "13",
"end_idx": "45",
"entity_id": "7124",
"entity_type": "Gene",
"text_name": "TNF microsatellite polymorphisms"
},
{
"begin_idx": "466",
"end_idx": "474",
"entity_id": "3123",
"entity_type": "Gene",
"text_name": "HLA-DRB1"
}
] | [
{
"begin_idx": "204",
"end_idx": "248",
"entity_id": "D003922",
"entity_type": "Disease",
"text_name": "Type I (insulin-dependent) diabetes mellitus"
},
{
"begin_idx": "250",
"end_idx": "254",
"entity_id": "D003922",
"entity_type": "Disease",
"text_name": "IDDM"
}
] | [
"TNF microsatellite polymorphisms",
"HLA-DRB1"
] | [
"Type I (insulin-dependent) diabetes mellitus",
"IDDM"
] |
10566637 | A novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia. | Congenital lipoid adrenal hyperplasia (CLAH) is an autosomal recessive disorder characterized by impaired synthesis of all adrenal and gonadal steroid hormones. Recently, it was reported that mutations in the steroidogenic acute regulatory protein (StAR) gene cause CLAH. In the present study, we have analyzed the StAR... | [
{
"begin_idx": "108",
"end_idx": "145",
"entity_id": "C537027",
"entity_type": "Disease",
"text_name": "congenital lipoid adrenal hyperplasia"
},
{
"begin_idx": "147",
"end_idx": "184",
"entity_id": "C537027",
"entity_type": "Disease",
"text_name": "Congenital lipoid adre... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "46",
"end_idx": "84",
"entity_id": "6770",
"entity_type": "Gene",
"text_name": "steroidogenic acute regulatory protein"
},
{
"begin_idx": "1065",
"end_idx": "1069",
"entity_id": "6770",
"entity_type": "Gene",
"text_name": "StAR"
}
] | [
{
"begin_idx": "108",
"end_idx": "145",
"entity_id": "C537027",
"entity_type": "Disease",
"text_name": "congenital lipoid adrenal hyperplasia"
},
{
"begin_idx": "198",
"end_idx": "226",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "autosomal recessive di... | [
"steroidogenic acute regulatory protein",
"StAR"
] | [
"congenital lipoid adrenal hyperplasia",
"autosomal recessive disorder"
] |
10566648 | Aromatase deficiency caused by a novel P450arom gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a boy. | We identified a new point mutation in the CYP19 gene responsible for aromatase (P450arom) deficiency in a 46,XY male infant with unremarkable clinical findings at birth. This boy is homozygote for a 1-bp (C) deletion in exon 5 of the aromatase gene causing a frame-shift mutation. The frame-shift results in a premature... | [
{
"begin_idx": "0",
"end_idx": "20",
"entity_id": "C537436",
"entity_type": "Disease",
"text_name": "Aromatase deficiency"
},
{
"begin_idx": "564",
"end_idx": "584",
"entity_id": "C537436",
"entity_type": "Disease",
"text_name": "Aromatase deficiency"
},
{
"begin_... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "39",
"end_idx": "47",
"entity_id": "1588",
"entity_type": "Gene",
"text_name": "P450arom"
}
] | [
{
"begin_idx": "0",
"end_idx": "20",
"entity_id": "C537436",
"entity_type": "Disease",
"text_name": "Aromatase deficiency"
}
] | [
"P450arom"
] | [
"Aromatase deficiency"
] |
10568518 | Risk for Alzheimer's disease in older late-onset cases is associated with HLA-DRB1*03. | The allele frequency of the HLA-DRB1 gene was compared between groups of 48 clinically diagnosed elderly Alzheimer's disease (AD) cases and 44 pathologically confirmed elderly control cases. Specific primers were used to PCR amplify the highly polymorphic second exon of HLA-DRB1 using DNA extracted from blood samples ... | [
{
"begin_idx": "9",
"end_idx": "28",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
},
{
"begin_idx": "192",
"end_idx": "211",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
},
{
"begin_id... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "74",
"end_idx": "82",
"entity_id": "3123",
"entity_type": "Gene",
"text_name": "HLA-DRB1"
}
] | [
{
"begin_idx": "9",
"end_idx": "28",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
}
] | [
"HLA-DRB1"
] | [
"Alzheimer's disease"
] |
10570779 | [Distributive shock and it's therapy by cardio-vascular acting drugs]. | Distributive shock is defined as circulatory insufficiency induced by excessive dilatation of the peripheral vasculature or maldistribution of cardiac output. Septicemia, systemic inflammatory response syndrome, anaphylaxis, injuries to the central nervous system, and drug intoxication are causative factors of shock. ... | [
{
"begin_idx": "283",
"end_idx": "294",
"entity_id": "D000707",
"entity_type": "Disease",
"text_name": "anaphylaxis"
},
{
"begin_idx": "426",
"end_idx": "445",
"entity_id": "D001424",
"entity_type": "Disease",
"text_name": "bacterial infection"
},
{
"begin_idx": "... | [
"Yes",
"No"
] | [
false,
false
] | [
{
"begin_idx": "993",
"end_idx": "1004",
"entity_id": "551",
"entity_type": "Gene",
"text_name": "vasopressin"
},
{
"begin_idx": "993",
"end_idx": "1004",
"entity_id": "551",
"entity_type": "Gene",
"text_name": "vasopressin"
}
] | [
{
"begin_idx": "1",
"end_idx": "19",
"entity_id": "D012769",
"entity_type": "Disease",
"text_name": "Distributive shock"
},
{
"begin_idx": "230",
"end_idx": "240",
"entity_id": "D018805",
"entity_type": "Disease",
"text_name": "Septicemia"
}
] | [
"vasopressin",
"vasopressin"
] | [
"Distributive shock",
"Septicemia"
] |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.