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 |
|---|---|---|---|---|---|---|---|---|---|
10319897 | Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members. | Spastic paraplegia type 2 (SPG2) is allelic to Pelizaeus-Merzbacher disease (PMD), with both conditions resulting from mutations in the proteolipid protein gene (PLP). We report an SPG2 family in which 3 male members and a heterozygous female member were affected with spastic paraplegia characterized by relatively lat... | [
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"entity_type": "Disease",
"text_name": "spastic paraplegia type 2"
},
{
"be... | [
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"Yes",
"No",
"No"
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true,
true,
true
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{
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"text_name": "spastic paraplegia type 2"
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{
"begin_idx": "67",
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"entity_id": "5354",
"entity_type": "Gene",
"text_name": "spastic paraplegia type 2"
},
{
"begin_idx... | [
{
"begin_idx": "191",
"end_idx": "219",
"entity_id": "D020371",
"entity_type": "Disease",
"text_name": "Pelizaeus-Merzbacher disease"
},
{
"begin_idx": "413",
"end_idx": "431",
"entity_id": "C536857",
"entity_type": "Disease",
"text_name": "spastic paraplegia"
},
{
... | [
"spastic paraplegia type 2",
"spastic paraplegia type 2",
"PLP",
"SPG2"
] | [
"Pelizaeus-Merzbacher disease",
"spastic paraplegia",
"SPG2",
"SPG2"
] |
10320038 | Increased brain lysosomal pepstatin-insensitive proteinase activity in patients with neurodegenerative diseases. | A recent study has shown mutations in CLN2 gene, that encodes a novel lysosomal pepstatin-insensitive proteinase (LPIP), in the pathophysiology of late-infantile neuronal ceroid lipofuscinosis (LINCL). We have measured the LPIP activities in brains from various forms of human neuronal ceroid lipofuscinoses (NCL), cani... | [
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"entity_id": "C564953",
"entity_type": "Disease",
"text_name": "INCL"
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{
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"end_idx": "1011",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
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{
"begin_idx": "1452",... | [
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{
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{
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{
"begin_idx": "1247",
"end_idx": "1251",
... | [
{
"begin_idx": "992",
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"text_name": "Alzheimer's disease"
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{
"begin_idx": "260",
"end_idx": "305",
"entity_id": "D009472",
"entity_type": "Disease",
"text_name": "late-infantile neuronal ceroid lipofusc... | [
"CLN2",
"CLN2",
"JNCL",
"JNCL"
] | [
"Alzheimer's disease",
"late-infantile neuronal ceroid lipofuscinosis",
"late-infantile neuronal ceroid lipofuscinosis",
"LINCL"
] |
10323252 | Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. | Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive muscular dystrophy characterized by early contractures of the elbows, Achilles tendons and spine, slowly progressive muscle wasting and weakness, and cardiomyopathy associated with cardiac conduction defects. The emerin gene has been mapped to Xq28 and ... | [
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"entity_id": "C562490",
"entity_type": "Disease",
"text_name": "cardiac conduction defects"
},
{
"begin_idx": "231",
"end_idx": "285",
"entity_id": "D003286",
"entity_type": "Disease",
"text_name": "contractures of the elbows, Achil... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "19",
"end_idx": "25",
"entity_id": "2010",
"entity_type": "Gene",
"text_name": "emerin"
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{
"begin_idx": "1564",
"end_idx": "1568",
"entity_id": "2010",
"entity_type": "Gene",
"text_name": "EDMD"
}
] | [
{
"begin_idx": "79",
"end_idx": "121",
"entity_id": "D020389",
"entity_type": "Disease",
"text_name": "X-linked Emery-Dreifuss muscular dystrophy"
},
{
"begin_idx": "1353",
"end_idx": "1372",
"entity_id": "D018908",
"entity_type": "Disease",
"text_name": "lower limb weakn... | [
"emerin",
"EDMD"
] | [
"X-linked Emery-Dreifuss muscular dystrophy",
"lower limb weakness"
] |
10323455 | Association of rheumatoid arthritis with a functional chemokine receptor, CCR5. | OBJECTIVE: To investigate whether the pathogenesis of rheumatoid arthritis (RA) is associated with the functional chemokine receptor CCR5, which is the primary CC chemokine receptor expressed by T cells in rheumatoid synovium, and its nonfunctional receptor, delta32CCR5, which is generated by the homozygous 32-basepai... | [
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"entity_id": "D001172",
"entity_type": "Disease",
"text_name": "rheumatoid arthritis"
},
{
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"end_idx": "154",
"entity_id": "D001172",
"entity_type": "Disease",
"text_name": "rheumatoid arthritis"
},
{
"begin... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "194",
"end_idx": "217",
"entity_id": "1234",
"entity_type": "Gene",
"text_name": "chemokine receptor CCR5"
},
{
"begin_idx": "194",
"end_idx": "217",
"entity_id": "1234",
"entity_type": "Gene",
"text_name": "chemokine receptor CCR5"
}
] | [
{
"begin_idx": "15",
"end_idx": "35",
"entity_id": "D001172",
"entity_type": "Disease",
"text_name": "rheumatoid arthritis"
},
{
"begin_idx": "903",
"end_idx": "906",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "SLE"
}
] | [
"chemokine receptor CCR5",
"chemokine receptor CCR5"
] | [
"rheumatoid arthritis",
"SLE"
] |
10329380 | A genetic polymorphism in the promoter region of DRD4 associated with expression and schizophrenia. | The human dopamine D4 receptor gene (DRD4) is an important candidate gene for schizophrenia. We identified a novel -521C>T polymorphism in the 5'-promoter region of DRD4. A transient expression method revealed that the T allele of this polymorphism reduces the transcriptional efficiency by 40% compared with the C alle... | [
{
"begin_idx": "85",
"end_idx": "98",
"entity_id": "D012559",
"entity_type": "Disease",
"text_name": "schizophrenia"
},
{
"begin_idx": "178",
"end_idx": "191",
"entity_id": "D012559",
"entity_type": "Disease",
"text_name": "schizophrenia"
},
{
"begin_idx": "535",
... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "110",
"end_idx": "130",
"entity_id": "1815",
"entity_type": "Gene",
"text_name": "dopamine D4 receptor"
}
] | [
{
"begin_idx": "85",
"end_idx": "98",
"entity_id": "D012559",
"entity_type": "Disease",
"text_name": "schizophrenia"
}
] | [
"dopamine D4 receptor"
] | [
"schizophrenia"
] |
10330339 | Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. | The late-infantile form of neuronal ceroid lipofuscinosis (LINCL) is a progressive and ultimately fatal neurodegenerative disease of childhood. The defective gene in this hereditary disorder, CLN2, encodes a recently identified lysosomal pepstatin-insensitive acid protease. To better understand the molecular pathology... | [
{
"begin_idx": "211",
"end_idx": "216",
"entity_id": "C566857",
"entity_type": "Disease",
"text_name": "LINCL"
},
{
"begin_idx": "344",
"end_idx": "348",
"entity_id": "C566857",
"entity_type": "Disease",
"text_name": "CLN2"
},
{
"begin_idx": "475",
"end_idx": ... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "344",
"end_idx": "348",
"entity_id": "1200",
"entity_type": "Gene",
"text_name": "CLN2"
},
{
"begin_idx": "515",
"end_idx": "519",
"entity_id": "1200",
"entity_type": "Gene",
"text_name": "CLN2"
}
] | [
{
"begin_idx": "211",
"end_idx": "216",
"entity_id": "C566857",
"entity_type": "Disease",
"text_name": "LINCL"
},
{
"begin_idx": "179",
"end_idx": "209",
"entity_id": "D009472",
"entity_type": "Disease",
"text_name": "neuronal ceroid lipofuscinosis"
}
] | [
"CLN2",
"CLN2"
] | [
"LINCL",
"neuronal ceroid lipofuscinosis"
] |
10330340 | Calpainopathy-a survey of mutations and polymorphisms. | Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles. It derives from defects in the human CAPN3 gene, which encodes the skeletal muscle-specific member of the calpain family. This report represents a c... | [
{
"begin_idx": "0",
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"entity_id": "C535895",
"entity_type": "Disease",
"text_name": "Calpainopathy"
},
{
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"entity_id": "C535895",
"entity_type": "Disease",
"text_name": "calpainopathies"
},
{
"begin_idx": "76"... | [
"Yes",
"No"
] | [
false,
false
] | [
{
"begin_idx": "479",
"end_idx": "488",
"entity_id": "825",
"entity_type": "Gene",
"text_name": "calpain 3"
},
{
"begin_idx": "982",
"end_idx": "987",
"entity_id": "825",
"entity_type": "Gene",
"text_name": "CAPN3"
}
] | [
{
"begin_idx": "1148",
"end_idx": "1163",
"entity_id": "C535895",
"entity_type": "Disease",
"text_name": "calpainopathies"
},
{
"begin_idx": "55",
"end_idx": "66",
"entity_id": "D049288",
"entity_type": "Disease",
"text_name": "Limb-girdle"
}
] | [
"calpain 3",
"CAPN3"
] | [
"calpainopathies",
"Limb-girdle"
] |
10331110 | Family-based association studies support a sexually dimorphic effect of COMT and MAOA on genetic susceptibility to obsessive-compulsive disorder. | BACKGROUND: Obsessive-compulsive disorder (OCD) is a common and severe psychiatric illness that affects 1-3% of the population and presents a well-established co-morbidity with major depressive disorder (MDD). Twin and family studies have suggested a genetic component in the etiology of OCD, although the mode of inher... | [
{
"begin_idx": "217",
"end_idx": "228",
"entity_id": "D001523",
"entity_type": "Disease",
"text_name": "psychiatric"
},
{
"begin_idx": "625",
"end_idx": "636",
"entity_id": "D001523",
"entity_type": "Disease",
"text_name": "psychiatric"
},
{
"begin_idx": "2260",
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "735",
"end_idx": "763",
"entity_id": "1312",
"entity_type": "Gene",
"text_name": "catechol-O-methyltransferase"
},
{
"begin_idx": "81",
"end_idx": "85",
"entity_id": "4128",
"entity_type": "Gene",
"text_name": "MAOA"
}
] | [
{
"begin_idx": "115",
"end_idx": "144",
"entity_id": "D009771",
"entity_type": "Disease",
"text_name": "obsessive-compulsive disorder"
},
{
"begin_idx": "2075",
"end_idx": "2078",
"entity_id": "D009771",
"entity_type": "Disease",
"text_name": "OCD"
}
] | [
"catechol-O-methyltransferase",
"MAOA"
] | [
"obsessive-compulsive disorder",
"OCD"
] |
10331951 | Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. | Best vitelliform macular dystrophy (VMD2) is an autosomal dominant dystrophy with a juvenile age of onset. Mutations in the Bestrophin gene were shown in patients affected with VMD2. In a mutation study, we made three new and interesting observations. First, we identified possible mutation hotspots within the gene, su... | [
{
"begin_idx": "127",
"end_idx": "155",
"entity_id": "D003317",
"entity_type": "Disease",
"text_name": "autosomal dominant dystrophy"
},
{
"begin_idx": "43",
"end_idx": "77",
"entity_id": "D057826",
"entity_type": "Disease",
"text_name": "Best vitelliform macular dystroph... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "115",
"end_idx": "119",
"entity_id": "7439",
"entity_type": "Gene",
"text_name": "VMD2"
},
{
"begin_idx": "256",
"end_idx": "260",
"entity_id": "7439",
"entity_type": "Gene",
"text_name": "VMD2"
}
] | [
{
"begin_idx": "43",
"end_idx": "77",
"entity_id": "D057826",
"entity_type": "Disease",
"text_name": "Best vitelliform macular dystrophy"
},
{
"begin_idx": "127",
"end_idx": "155",
"entity_id": "D003317",
"entity_type": "Disease",
"text_name": "autosomal dominant dystroph... | [
"VMD2",
"VMD2"
] | [
"Best vitelliform macular dystrophy",
"autosomal dominant dystrophy"
] |
10332047 | Novel genetic association between the corneodesmosin (MHC S) gene and susceptibility to psoriasis. | Psoriasis is an inflammatory skin disease of unknown origin, but with a clear genetic component. The strongest genetic association has been found with the major histocompatibility complex (MHC) region, and specifically between susceptibility to familial early onset psoriasis and human leukocyte antigen (HLA)-Cw6. The ... | [
{
"begin_idx": "88",
"end_idx": "97",
"entity_id": "D011565",
"entity_type": "Disease",
"text_name": "psoriasis"
},
{
"begin_idx": "365",
"end_idx": "374",
"entity_id": "D011565",
"entity_type": "Disease",
"text_name": "psoriasis"
},
{
"begin_idx": "959",
"end... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "38",
"end_idx": "59",
"entity_id": "1041",
"entity_type": "Gene",
"text_name": "corneodesmosin (MHC S"
},
{
"begin_idx": "385",
"end_idx": "412",
"entity_id": "3126",
"entity_type": "Gene",
"text_name": "leukocyte antigen (HLA)-Cw6"
}
] | [
{
"begin_idx": "88",
"end_idx": "97",
"entity_id": "D011565",
"entity_type": "Disease",
"text_name": "psoriasis"
},
{
"begin_idx": "1947",
"end_idx": "1956",
"entity_id": "D011565",
"entity_type": "Disease",
"text_name": "psoriasis"
}
] | [
"corneodesmosin (MHC S",
"leukocyte antigen (HLA)-Cw6"
] | [
"psoriasis",
"psoriasis"
] |
10333056 | Variants in the sulphonylurea receptor gene: association of the exon 16-3t variant with Type II diabetes mellitus in Dutch Caucasians. | AIMS/HYPOTHESIS: We have analysed to what extent two previously reported single nucleotide polymorphisms in the sulphonylurea receptor gene (SUR1) are associated with Type II (non-insulin-dependent) diabetes mellitus in The Netherlands. Furthermore, we estimated haplotype frequencies in control and diabetic population... | [
{
"begin_idx": "435",
"end_idx": "443",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetic"
},
{
"begin_idx": "1258",
"end_idx": "1266",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetic"
},
{
"begin_idx": "88",
"en... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "276",
"end_idx": "280",
"entity_id": "6833",
"entity_type": "Gene",
"text_name": "SUR1"
},
{
"begin_idx": "1517",
"end_idx": "1521",
"entity_id": "6833",
"entity_type": "Gene",
"text_name": "SUR1"
}
] | [
{
"begin_idx": "302",
"end_idx": "351",
"entity_id": "D003924",
"entity_type": "Disease",
"text_name": "Type II (non-insulin-dependent) diabetes mellitus"
},
{
"begin_idx": "1258",
"end_idx": "1266",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetic... | [
"SUR1",
"SUR1"
] | [
"Type II (non-insulin-dependent) diabetes mellitus",
"diabetic"
] |
10333087 | Missense variants in the human cholecystokinin type A receptor gene: no evidence for association with early-onset obesity. | [
{
"begin_idx": "114",
"end_idx": "121",
"entity_id": "D009765",
"entity_type": "Disease",
"text_name": "obesity"
},
{
"begin_idx": "31",
"end_idx": "62",
"entity_id": "886",
"entity_type": "Gene",
"text_name": "cholecystokinin type A receptor"
}
] | [
"Yes"
] | [
true
] | [
{
"begin_idx": "31",
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"entity_id": "886",
"entity_type": "Gene",
"text_name": "cholecystokinin type A receptor"
}
] | [
{
"begin_idx": "114",
"end_idx": "121",
"entity_id": "D009765",
"entity_type": "Disease",
"text_name": "obesity"
}
] | [
"cholecystokinin type A receptor"
] | [
"obesity"
] | |
10335546 | Possible association between schizophrenia and a CAG repeat polymorphism in the spinocerebellar ataxia type 1 (SCA1) gene on human chromosome 6p23. | The gene for spinocerebellar ataxia type 1 (SCA1) is a potential candidate gene for schizophrenia because of previous positive linkage findings in this region (6p22-24), and because the reported correlation between SCA1 onset and the number of CAG repeats suggests anticipation. To test the involvement of this gene in ... | [
{
"begin_idx": "29",
"end_idx": "42",
"entity_id": "D012559",
"entity_type": "Disease",
"text_name": "schizophrenia"
},
{
"begin_idx": "232",
"end_idx": "245",
"entity_id": "D012559",
"entity_type": "Disease",
"text_name": "schizophrenia"
},
{
"begin_idx": "486",
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "80",
"end_idx": "109",
"entity_id": "6310",
"entity_type": "Gene",
"text_name": "spinocerebellar ataxia type 1"
},
{
"begin_idx": "363",
"end_idx": "367",
"entity_id": "6310",
"entity_type": "Gene",
"text_name": "SCA1"
}
] | [
{
"begin_idx": "29",
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"entity_id": "D012559",
"entity_type": "Disease",
"text_name": "schizophrenia"
},
{
"begin_idx": "111",
"end_idx": "115",
"entity_id": "D017827",
"entity_type": "Disease",
"text_name": "SCA1"
}
] | [
"spinocerebellar ataxia type 1",
"SCA1"
] | [
"schizophrenia",
"SCA1"
] |
10338091 | Two novel mutations of the FMO3 gene in a proband with trimethylaminuria. | The mammalian flavin-containing monooxygenases catalyze the NADPH-dependent N-oxygenation of nucleophilic nitrogen-, sulfur-, and phosphorus-containing chemicals, drugs, and xenobiotics, including trimethylamine. The FMO3 gene encodes the dominant catalytically active isoform present in human liver. We have identified... | [
{
"begin_idx": "55",
"end_idx": "72",
"entity_id": "C536561",
"entity_type": "Disease",
"text_name": "trimethylaminuria"
},
{
"begin_idx": "468",
"end_idx": "485",
"entity_id": "C536561",
"entity_type": "Disease",
"text_name": "trimethylaminuria"
},
{
"begin_idx":... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "27",
"end_idx": "31",
"entity_id": "2328",
"entity_type": "Gene",
"text_name": "FMO3"
}
] | [
{
"begin_idx": "55",
"end_idx": "72",
"entity_id": "C536561",
"entity_type": "Disease",
"text_name": "trimethylaminuria"
}
] | [
"FMO3"
] | [
"trimethylaminuria"
] |
10339581 | Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. | Hyaluronan (HA), a large glycosaminoglycan abundant in the extracellular matrix, is important in cell migration during embryonic development, cellular proliferation, and differentiation and has a structural role in connective tissues. The turnover of HA requires endoglycosidic breakdown by lysosomal hyaluronidase, and... | [
{
"begin_idx": "161",
"end_idx": "185",
"entity_id": "C563209",
"entity_type": "Disease",
"text_name": "mucopolysaccharidosis IX"
},
{
"begin_idx": "509",
"end_idx": "547",
"entity_id": "C563209",
"entity_type": "Disease",
"text_name": "congenital deficiency of hyaluronid... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "13",
"end_idx": "18",
"entity_id": "3373",
"entity_type": "Gene",
"text_name": "HYAL1"
},
{
"begin_idx": "13",
"end_idx": "18",
"entity_id": "3373",
"entity_type": "Gene",
"text_name": "HYAL1"
}
] | [
{
"begin_idx": "509",
"end_idx": "547",
"entity_id": "C563209",
"entity_type": "Disease",
"text_name": "congenital deficiency of hyaluronidase"
},
{
"begin_idx": "838",
"end_idx": "851",
"entity_id": "D006130",
"entity_type": "Disease",
"text_name": "short stature"
}
] | [
"HYAL1",
"HYAL1"
] | [
"congenital deficiency of hyaluronidase",
"short stature"
] |
10340396 | Prolactin exerts hematopoietic growth-promoting effects in vivo and partially counteracts myelosuppression by azidothymidine. | Prolactin (PRL) is a neuroendocrine hormone that influences immune and hematopoietic development. The mechanism of action of this hormone in vivo remains unclear; therefore, we assessed the effects of PRL on hematopoiesis in vivo and in vitro. Normal resting mice were treated with 0, 1, 10, or 100 microg of recombinan... | [
{
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"end_idx": "1218",
"entity_id": "D000740",
"entity_type": "Disease",
"text_name": "anemia"
},
{
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"entity_id": "D007960",
"entity_type": "Disease",
"text_name": "increased CFU-GM"
},
{
"begin_idx": "0",
... | [
"Yes",
"No"
] | [
false,
false
] | [
{
"begin_idx": "0",
"end_idx": "9",
"entity_id": "5617",
"entity_type": "Gene",
"text_name": "Prolactin"
},
{
"begin_idx": "126",
"end_idx": "135",
"entity_id": "5617",
"entity_type": "Gene",
"text_name": "Prolactin"
}
] | [
{
"begin_idx": "1212",
"end_idx": "1218",
"entity_id": "D000740",
"entity_type": "Disease",
"text_name": "anemia"
},
{
"begin_idx": "1438",
"end_idx": "1454",
"entity_id": "D007960",
"entity_type": "Disease",
"text_name": "increased CFU-GM"
}
] | [
"Prolactin",
"Prolactin"
] | [
"anemia",
"increased CFU-GM"
] |
10341858 | Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. | OBJECTIVE: Mutations of the DAX1 gene (Dosage-sensitive sex reversal-Adrenal hypoplasia congenita critical region on the X chromosome gene 1), which encodes a novel orphan nuclear receptor, have been identified in patients with X-linked adrenal hypoplasia congenita (AHC) and hypogonadotrophic hypogonadism (HHG). We ha... | [
{
"begin_idx": "137",
"end_idx": "195",
"entity_id": "C535601",
"entity_type": "Disease",
"text_name": "Dosage-sensitive sex reversal-Adrenal hypoplasia congenita"
},
{
"begin_idx": "24",
"end_idx": "61",
"entity_id": "C536757",
"entity_type": "Disease",
"text_name": "X-l... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "6",
"end_idx": "10",
"entity_id": "190",
"entity_type": "Gene",
"text_name": "DAX1"
},
{
"begin_idx": "1765",
"end_idx": "1769",
"entity_id": "190",
"entity_type": "Gene",
"text_name": "DAX1"
}
] | [
{
"begin_idx": "24",
"end_idx": "61",
"entity_id": "C536757",
"entity_type": "Disease",
"text_name": "X-linked adrenal hypoplasia congenita"
},
{
"begin_idx": "1520",
"end_idx": "1538",
"entity_id": "C538429",
"entity_type": "Disease",
"text_name": "adrenal hypoplasia"
... | [
"DAX1",
"DAX1"
] | [
"X-linked adrenal hypoplasia congenita",
"adrenal hypoplasia"
] |
10343282 | Unique multifunctional HSD17B4 gene product: 17beta-hydroxysteroid dehydrogenase 4 and D-3-hydroxyacyl-coenzyme A dehydrogenase/hydratase involved in Zellweger syndrome. | Six types of human 17beta-hydroxysteroid dehydrogenases catalyzing the conversion of estrogens and androgens at position C17 have been identified so far. The peroxisomal 17beta-hydroxysteroid dehydrogenase type 4 (17beta-HSD 4, gene name HSD17B4) catalyzes the oxidation of estradiol with high preference over the reduc... | [
{
"begin_idx": "624",
"end_idx": "640",
"entity_id": "D010051",
"entity_type": "Disease",
"text_name": "ovary and testes"
},
{
"begin_idx": "150",
"end_idx": "168",
"entity_id": "D015211",
"entity_type": "Disease",
"text_name": "Zellweger syndrome"
},
{
"begin_idx... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "45",
"end_idx": "82",
"entity_id": "3295",
"entity_type": "Gene",
"text_name": "17beta-hydroxysteroid dehydrogenase 4"
},
{
"begin_idx": "1722",
"end_idx": "1729",
"entity_id": "3295",
"entity_type": "Gene",
"text_name": "HSD17B4"
}
] | [
{
"begin_idx": "150",
"end_idx": "168",
"entity_id": "D015211",
"entity_type": "Disease",
"text_name": "Zellweger syndrome"
},
{
"begin_idx": "624",
"end_idx": "640",
"entity_id": "D010051",
"entity_type": "Disease",
"text_name": "ovary and testes"
}
] | [
"17beta-hydroxysteroid dehydrogenase 4",
"HSD17B4"
] | [
"Zellweger syndrome",
"ovary and testes"
] |
10344739 | Association of breast cancer progression with a vitamin D receptor gene polymorphism. South-East Sweden Breast Cancer Group. | The vitamin D3 receptor gene (VDR) contains a TaqI RFLP that is associated with increased VDR mRNA stability, increased serum levels of 1alpha,25-dihydroxyvitamin D3 (1,25-D3), and decreased risk for prostate cancer. Determination of the TaqI genotype, in a group of young women with breast cancer (n = 111; age, <37 ye... | [
{
"begin_idx": "15",
"end_idx": "28",
"entity_id": "D001943",
"entity_type": "Disease",
"text_name": "breast cancer"
},
{
"begin_idx": "104",
"end_idx": "117",
"entity_id": "D001943",
"entity_type": "Disease",
"text_name": "Breast Cancer"
},
{
"begin_idx": "409",
... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "48",
"end_idx": "66",
"entity_id": "7421",
"entity_type": "Gene",
"text_name": "vitamin D receptor"
},
{
"begin_idx": "215",
"end_idx": "218",
"entity_id": "7421",
"entity_type": "Gene",
"text_name": "VDR"
}
] | [
{
"begin_idx": "1015",
"end_idx": "1032",
"entity_id": "D001943",
"entity_type": "Disease",
"text_name": "breast carcinomas"
},
{
"begin_idx": "647",
"end_idx": "657",
"entity_id": "D009362",
"entity_type": "Disease",
"text_name": "metastasis"
}
] | [
"vitamin D receptor",
"VDR"
] | [
"breast carcinomas",
"metastasis"
] |
10351920 | The DD genotype of the angiotensin converting enzyme gene is negatively associated with right ventricular hypertrophy in male patients with chronic obstructive pulmonary disease. | The renin angiotensin system plays an important role in the development of pulmonary artery remodeling and right ventricular hypertrophy in hypoxia-induced pulmonary hypertension as may occur in patients with COPD. Several polymorphisms of genes encoding for components of the renin angiotensin system such as the M235T... | [
{
"begin_idx": "4",
"end_idx": "6",
"entity_id": "C536170",
"entity_type": "Disease",
"text_name": "DD"
},
{
"begin_idx": "1663",
"end_idx": "1665",
"entity_id": "C536170",
"entity_type": "Disease",
"text_name": "DD"
},
{
"begin_idx": "319",
"end_idx": "326",
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "23",
"end_idx": "52",
"entity_id": "1636",
"entity_type": "Gene",
"text_name": "angiotensin converting enzyme"
},
{
"begin_idx": "1073",
"end_idx": "1078",
"entity_id": "5972",
"entity_type": "Gene",
"text_name": "renin"
}
] | [
{
"begin_idx": "140",
"end_idx": "177",
"entity_id": "D029424",
"entity_type": "Disease",
"text_name": "chronic obstructive pulmonary disease"
},
{
"begin_idx": "1135",
"end_idx": "1164",
"entity_id": "D017380",
"entity_type": "Disease",
"text_name": "right ventricular hy... | [
"angiotensin converting enzyme",
"renin"
] | [
"chronic obstructive pulmonary disease",
"right ventricular hypertrophy"
] |
10353779 | Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN. | Cowden syndrome (CS) and Bannayan-Zonana syndrome (BZS) are two hamartoma syndromes with distinct phenotypic features. Although partial clinical overlap exists between CS and BZS, they are considered to be separate entities. PTEN has been identified as the susceptibility gene for both disorders, suggesting allelism. W... | [
{
"begin_idx": "196",
"end_idx": "215",
"entity_id": "D006222",
"entity_type": "Disease",
"text_name": "hamartoma syndromes"
},
{
"begin_idx": "23",
"end_idx": "38",
"entity_id": "D006223",
"entity_type": "Disease",
"text_name": "Cowden syndrome"
},
{
"begin_idx":... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "126",
"end_idx": "130",
"entity_id": "5728",
"entity_type": "Gene",
"text_name": "PTEN"
},
{
"begin_idx": "357",
"end_idx": "361",
"entity_id": "5728",
"entity_type": "Gene",
"text_name": "PTEN"
}
] | [
{
"begin_idx": "43",
"end_idx": "67",
"entity_id": "D006223",
"entity_type": "Disease",
"text_name": "Bannayan-Zonana syndrome"
},
{
"begin_idx": "196",
"end_idx": "215",
"entity_id": "D006222",
"entity_type": "Disease",
"text_name": "hamartoma syndromes"
}
] | [
"PTEN",
"PTEN"
] | [
"Bannayan-Zonana syndrome",
"hamartoma syndromes"
] |
10357835 | Association of plasma lipids and apolipoproteins with the insulin response element in the apoC-III promoter region in familial combined hyperlipidemia. | The apoAI-CIII-AIV gene cluster, located on chromosome 11, contributes to the phenotype of familial combined hyperlipidemia (FCH), but this contribution is genetically complex. Combinations of haplotypes, based on three restriction enzyme polymorphisms: XmnI and MspI sites, 5' of the start site of the apoA-I gene and ... | [
{
"begin_idx": "622",
"end_idx": "636",
"entity_id": "D006949",
"entity_type": "Disease",
"text_name": "hyperlipidemia"
},
{
"begin_idx": "118",
"end_idx": "150",
"entity_id": "D006950",
"entity_type": "Disease",
"text_name": "familial combined hyperlipidemia"
},
{
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "90",
"end_idx": "98",
"entity_id": "345",
"entity_type": "Gene",
"text_name": "apoC-III"
},
{
"begin_idx": "536",
"end_idx": "544",
"entity_id": "345",
"entity_type": "Gene",
"text_name": "apoC-III"
}
] | [
{
"begin_idx": "118",
"end_idx": "150",
"entity_id": "D006950",
"entity_type": "Disease",
"text_name": "familial combined hyperlipidemia"
},
{
"begin_idx": "622",
"end_idx": "636",
"entity_id": "D006949",
"entity_type": "Disease",
"text_name": "hyperlipidemia"
}
] | [
"apoC-III",
"apoC-III"
] | [
"familial combined hyperlipidemia",
"hyperlipidemia"
] |
10359483 | Association of a regulatory polymorphism in the promoter region of the monoamine oxidase A gene with antisocial alcoholism. | We analyzed a novel functional 30-bp repeat polymorphism in the promoter region of the X-chromosomal monoamine oxidase A gene (MAOA) to test whether length variation of the repeat polymorphism contributes to variation in the individual vulnerability to antisocial behavior and liability to alcohol dependence. The repea... | [
{
"begin_idx": "112",
"end_idx": "122",
"entity_id": "D000437",
"entity_type": "Disease",
"text_name": "alcoholism"
},
{
"begin_idx": "414",
"end_idx": "432",
"entity_id": "D000437",
"entity_type": "Disease",
"text_name": "alcohol dependence"
},
{
"begin_idx": "12... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "71",
"end_idx": "90",
"entity_id": "4128",
"entity_type": "Gene",
"text_name": "monoamine oxidase A"
},
{
"begin_idx": "1196",
"end_idx": "1200",
"entity_id": "4128",
"entity_type": "Gene",
"text_name": "MAOA"
}
] | [
{
"begin_idx": "414",
"end_idx": "432",
"entity_id": "D000437",
"entity_type": "Disease",
"text_name": "alcohol dependence"
},
{
"begin_idx": "377",
"end_idx": "396",
"entity_id": "D001523",
"entity_type": "Disease",
"text_name": "antisocial behavior"
}
] | [
"monoamine oxidase A",
"MAOA"
] | [
"alcohol dependence",
"antisocial behavior"
] |
10362030 | The angiotensin-converting enzyme DD gene is associated with poor prognosis in Finnish sarcoidosis patients. | Angiotensin-converting enzyme (ACE) genotypes may reflect prognosis in sarcoidosis. They were determined in 59 Finnish sarcoidosis patients and 70 healthy control subjects. The prognosis of the sarcoidosis patients was determined after follow-up for 1, 2, 3, 5 and >5 yrs and classified as good (normal chest radiograph... | [
{
"begin_idx": "34",
"end_idx": "36",
"entity_id": "C536170",
"entity_type": "Disease",
"text_name": "DD"
},
{
"begin_idx": "764",
"end_idx": "766",
"entity_id": "C536170",
"entity_type": "Disease",
"text_name": "DD"
},
{
"begin_idx": "910",
"end_idx": "912",
... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "140",
"end_idx": "143",
"entity_id": "1636",
"entity_type": "Gene",
"text_name": "ACE"
},
{
"begin_idx": "140",
"end_idx": "143",
"entity_id": "1636",
"entity_type": "Gene",
"text_name": "ACE"
}
] | [
{
"begin_idx": "87",
"end_idx": "98",
"entity_id": "D012507",
"entity_type": "Disease",
"text_name": "sarcoidosis"
},
{
"begin_idx": "768",
"end_idx": "770",
"entity_id": "C537985",
"entity_type": "Disease",
"text_name": "ID"
}
] | [
"ACE",
"ACE"
] | [
"sarcoidosis",
"ID"
] |
10364516 | X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. | Dyskeratosis congenita is a rare inherited bone marrow-failure syndrome characterized by abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. More than 80% of patients develop bone-marrow failure, and this is the major cause of premature death. The X-linked form of the disease (MIM 305000) has been sho... | [
{
"begin_idx": "144",
"end_idx": "167",
"entity_id": "C536572",
"entity_type": "Disease",
"text_name": "marrow-failure syndrome"
},
{
"begin_idx": "340",
"end_idx": "355",
"entity_id": "D003643",
"entity_type": "Disease",
"text_name": "premature death"
},
{
"begin... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "562",
"end_idx": "567",
"entity_id": "1736",
"entity_type": "Gene",
"text_name": "Cbf5p"
},
{
"begin_idx": "562",
"end_idx": "567",
"entity_id": "1736",
"entity_type": "Gene",
"text_name": "Cbf5p"
}
] | [
{
"begin_idx": "0",
"end_idx": "31",
"entity_id": "D019871",
"entity_type": "Disease",
"text_name": "X-linked dyskeratosis congenita"
},
{
"begin_idx": "213",
"end_idx": "252",
"entity_id": "D009260",
"entity_type": "Disease",
"text_name": "nail dystrophy, and mucosal leu... | [
"Cbf5p",
"Cbf5p"
] | [
"X-linked dyskeratosis congenita",
"nail dystrophy, and mucosal leukoplakia"
] |
10364917 | CYP2C19 genotype does not represent a genetic predisposition in idiopathic systemic lupus erythematosus. | BACKGROUND: The aetiology of systemic lupus erythematosus (SLE) is still unknown. In several cases, however, chemicals or drugs were identified as aetiological agents and associations with certain phenotypes of drug metabolising enzymes have been reported. The purpose of this study was to discover if there is an assoc... | [
{
"begin_idx": "64",
"end_idx": "103",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "idiopathic systemic lupus erythematosus"
},
{
"begin_idx": "134",
"end_idx": "162",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "systemic lupus erythe... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "0",
"end_idx": "7",
"entity_id": "1557",
"entity_type": "Gene",
"text_name": "CYP2C19"
}
] | [
{
"begin_idx": "64",
"end_idx": "103",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "idiopathic systemic lupus erythematosus"
}
] | [
"CYP2C19"
] | [
"idiopathic systemic lupus erythematosus"
] |
10365914 | Enhancement of susceptibility to diverse skin tumor promoters by activation of the insulin-like growth factor-1 receptor in the epidermis of transgenic mice. | Insulin-like growth factor-1 (IGF-1) and its receptor are believed to play an important role in mitogenesis and neoplastic transformation. The purpose of this study was to further examine the role of IGF-1 during tumor promotion in mouse skin. HK1.IGF1 transgenic mice, which overexpress IGF-1 in epidermis via the huma... | [
{
"begin_idx": "1255",
"end_idx": "1276",
"entity_id": "D006965",
"entity_type": "Disease",
"text_name": "epidermal hyperplasia"
},
{
"begin_idx": "371",
"end_idx": "376",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "tumor"
},
{
"begin_idx": "68... | [
"Yes",
"No"
] | [
false,
true
] | [
{
"begin_idx": "1317",
"end_idx": "1331",
"entity_id": "3480",
"entity_type": "Gene",
"text_name": "IGF-1 receptor"
},
{
"begin_idx": "83",
"end_idx": "111",
"entity_id": "3479",
"entity_type": "Gene",
"text_name": "insulin-like growth factor-1"
}
] | [
{
"begin_idx": "41",
"end_idx": "51",
"entity_id": "D012878",
"entity_type": "Disease",
"text_name": "skin tumor"
},
{
"begin_idx": "1169",
"end_idx": "1174",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "tumor"
}
] | [
"IGF-1 receptor",
"insulin-like growth factor-1"
] | [
"skin tumor",
"tumor"
] |
10366111 | Polymorphism of beta2-glycoprotein I at codons 306 and 316 in patients with systemic lupus erythematosus and antiphospholipid syndrome. | OBJECTIVE: To determine the frequency of mutations in the phospholipid binding domain of beta2-glycoprotein I (beta2GPI) in patients with systemic lupus erythematosus (SLE) and/or antiphospholipid syndrome (APS), and to analyze the clinical correlations of such mutations with thromboembolic complications. METHODS: Exo... | [
{
"begin_idx": "782",
"end_idx": "801",
"entity_id": "C531622",
"entity_type": "Disease",
"text_name": "lupus anticoagulant"
},
{
"begin_idx": "803",
"end_idx": "806",
"entity_id": "C531622",
"entity_type": "Disease",
"text_name": "LAC"
},
{
"begin_idx": "1264",
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "16",
"end_idx": "36",
"entity_id": "350",
"entity_type": "Gene",
"text_name": "beta2-glycoprotein I"
},
{
"begin_idx": "1521",
"end_idx": "1529",
"entity_id": "350",
"entity_type": "Gene",
"text_name": "beta2GPI"
}
] | [
{
"begin_idx": "274",
"end_idx": "341",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "systemic lupus erythematosus (SLE) and/or antiphospholipid syndrome"
},
{
"begin_idx": "1564",
"end_idx": "1567",
"entity_id": "D016736",
"entity_type": "Disease",
"tex... | [
"beta2-glycoprotein I",
"beta2GPI"
] | [
"systemic lupus erythematosus (SLE) and/or antiphospholipid syndrome",
"APS"
] |
10366128 | Association of interleukin-4 receptor and interleukin-4 promoter gene polymorphisms with systemic lupus erythematosus. | [
{
"begin_idx": "89",
"end_idx": "117",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "systemic lupus erythematosus"
},
{
"begin_idx": "42",
"end_idx": "55",
"entity_id": "3565",
"entity_type": "Gene",
"text_name": "interleukin-4"
},
{
"begin_idx":... | [
"Yes",
"Yes"
] | [
true,
true
] | [
{
"begin_idx": "15",
"end_idx": "37",
"entity_id": "3566",
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"text_name": "interleukin-4 receptor"
},
{
"begin_idx": "42",
"end_idx": "55",
"entity_id": "3565",
"entity_type": "Gene",
"text_name": "interleukin-4"
}
] | [
{
"begin_idx": "89",
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"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "systemic lupus erythematosus"
},
{
"begin_idx": "89",
"end_idx": "117",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "systemic lupus erythematosus"
}... | [
"interleukin-4 receptor",
"interleukin-4"
] | [
"systemic lupus erythematosus",
"systemic lupus erythematosus"
] | |
10369261 | Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. | Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is an autosomal recessive disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Diagnostic hallmark of HIDS is a constitutively elevated level of serum immunoglo... | [
{
"begin_idx": "335",
"end_idx": "344",
"entity_id": "D005076",
"entity_type": "Disease",
"text_name": "skin rash"
},
{
"begin_idx": "83",
"end_idx": "106",
"entity_id": "D005334",
"entity_type": "Disease",
"text_name": "periodic fever syndrome"
},
{
"begin_idx": ... | [
"Yes",
"Yes",
"Yes",
"No",
"No",
"No"
] | [
false,
false,
true,
true,
false,
true
] | [
{
"begin_idx": "27",
"end_idx": "44",
"entity_id": "4598",
"entity_type": "Gene",
"text_name": "mevalonate kinase"
},
{
"begin_idx": "27",
"end_idx": "44",
"entity_id": "4598",
"entity_type": "Gene",
"text_name": "mevalonate kinase"
},
{
"begin_idx": "27",
"en... | [
{
"begin_idx": "335",
"end_idx": "344",
"entity_id": "D005076",
"entity_type": "Disease",
"text_name": "skin rash"
},
{
"begin_idx": "295",
"end_idx": "305",
"entity_id": "D018771",
"entity_type": "Disease",
"text_name": "arthralgia"
},
{
"begin_idx": "83",
"e... | [
"mevalonate kinase",
"mevalonate kinase",
"mevalonate kinase",
"MVK",
"MVK",
"mevalonate kinase"
] | [
"skin rash",
"arthralgia",
"periodic fever syndrome",
"HIDS",
"autosomal recessive disorder",
"HIDS"
] |
10369262 | Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. | Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is a rare, apparently monogenic, autosomal recessive disorder characterized by recurrent episodes of fever accompanied with lymphadenopathy, abdominal distress, joint involvement and skin lesions. All patients have high serum IgD values (>100 U/... | [
{
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"end_idx": "845",
"entity_id": "C536657",
"entity_type": "Disease",
"text_name": "Familial Hibernian fever"
},
{
"begin_idx": "55",
"end_idx": "92",
"entity_id": "D005334",
"entity_type": "Disease",
"text_name": "hyper-IgD and periodic fever syndrome... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "31",
"end_idx": "48",
"entity_id": "4598",
"entity_type": "Gene",
"text_name": "mevalonate kinase"
},
{
"begin_idx": "1199",
"end_idx": "1201",
"entity_id": "4598",
"entity_type": "Gene",
"text_name": "MK"
}
] | [
{
"begin_idx": "187",
"end_idx": "191",
"entity_id": "D054078",
"entity_type": "Disease",
"text_name": "HIDS"
},
{
"begin_idx": "821",
"end_idx": "845",
"entity_id": "C536657",
"entity_type": "Disease",
"text_name": "Familial Hibernian fever"
}
] | [
"mevalonate kinase",
"MK"
] | [
"HIDS",
"Familial Hibernian fever"
] |
10369264 | Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. | The metabolic pathways that produce 11-cis retinal are important for vision because this retinoid is the chromophore residing in rhodopsin and the cone opsins. The all-trans retinal that is generated after cone and rod photopigments absorb photons of light is recycled back to 11-cis retinal by the retinal pigment epit... | [
{
"begin_idx": "79",
"end_idx": "114",
"entity_id": "C562733",
"entity_type": "Disease",
"text_name": "adaptation and fundus albipunctatus"
},
{
"begin_idx": "947",
"end_idx": "975",
"entity_id": "C562733",
"entity_type": "Disease",
"text_name": "retinitis punctata albesc... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "626",
"end_idx": "630",
"entity_id": "5959",
"entity_type": "Gene",
"text_name": "RDH5"
},
{
"begin_idx": "626",
"end_idx": "630",
"entity_id": "5959",
"entity_type": "Gene",
"text_name": "RDH5"
}
] | [
{
"begin_idx": "79",
"end_idx": "114",
"entity_id": "C562733",
"entity_type": "Disease",
"text_name": "adaptation and fundus albipunctatus"
},
{
"begin_idx": "891",
"end_idx": "918",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "hereditary retinal diseas... | [
"RDH5",
"RDH5"
] | [
"adaptation and fundus albipunctatus",
"hereditary retinal diseases"
] |
10369266 | Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. | Holoprosencephaly (HPE) is a common, severe malformation of the brain that involves separation of the central nervous system into left and right halves. Mild HPE can consist of signs such as a single central incisor, hypotelorism, microcephaly, or other craniofacial findings that can be present with or without associa... | [
{
"begin_idx": "294",
"end_idx": "306",
"entity_id": "C563509",
"entity_type": "Disease",
"text_name": "hypotelorism"
},
{
"begin_idx": "121",
"end_idx": "146",
"entity_id": "D001927",
"entity_type": "Disease",
"text_name": "malformation of the brain"
},
{
"begin_... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "42",
"end_idx": "46",
"entity_id": "6496",
"entity_type": "Gene",
"text_name": "SIX3"
},
{
"begin_idx": "42",
"end_idx": "46",
"entity_id": "6496",
"entity_type": "Gene",
"text_name": "SIX3"
}
] | [
{
"begin_idx": "58",
"end_idx": "75",
"entity_id": "D016142",
"entity_type": "Disease",
"text_name": "holoprosencephaly"
},
{
"begin_idx": "121",
"end_idx": "146",
"entity_id": "D001927",
"entity_type": "Disease",
"text_name": "malformation of the brain"
}
] | [
"SIX3",
"SIX3"
] | [
"holoprosencephaly",
"malformation of the brain"
] |
10369308 | A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg. | BACKGROUND: Paramyotonia congenita (PMC) of von Eulenburg is an autosomal dominant muscular disease characterized by exercise- and cold-induced myotonia and weakness. To date, 18 missense mutations in the adult skeletal muscle sodium channel alpha-subunit (SCN4A) gene have been identified to cause a spectrum of muscul... | [
{
"begin_idx": "462",
"end_idx": "479",
"entity_id": "D009135",
"entity_type": "Disease",
"text_name": "muscular diseases"
},
{
"begin_idx": "293",
"end_idx": "301",
"entity_id": "D009222",
"entity_type": "Disease",
"text_name": "myotonia"
},
{
"begin_idx": "563",... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "89",
"end_idx": "94",
"entity_id": "6329",
"entity_type": "Gene",
"text_name": "SCN4A"
},
{
"begin_idx": "89",
"end_idx": "94",
"entity_id": "6329",
"entity_type": "Gene",
"text_name": "SCN4A"
}
] | [
{
"begin_idx": "161",
"end_idx": "183",
"entity_id": "D020967",
"entity_type": "Disease",
"text_name": "Paramyotonia congenita"
},
{
"begin_idx": "577",
"end_idx": "589",
"entity_id": "D020513",
"entity_type": "Disease",
"text_name": "hyperkalemic"
}
] | [
"SCN4A",
"SCN4A"
] | [
"Paramyotonia congenita",
"hyperkalemic"
] |
10371375 | Deletion polymorphism of the angiotensin converting enzyme gene is associated with an increase in left ventricular mass in men with type 2 diabetes mellitus. | Previous studies evaluating the angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism have revealed that expression of the DD genotype is associated with an increase in myocardial infarction, cardiomyopathy, and left ventricular (LV) mass in nondiabetic patients. In the present study, a cross-... | [
{
"begin_idx": "306",
"end_idx": "308",
"entity_id": "C536170",
"entity_type": "Disease",
"text_name": "DD"
},
{
"begin_idx": "943",
"end_idx": "945",
"entity_id": "C536170",
"entity_type": "Disease",
"text_name": "DD"
},
{
"begin_idx": "971",
"end_idx": "973"... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "29",
"end_idx": "58",
"entity_id": "1636",
"entity_type": "Gene",
"text_name": "angiotensin converting enzyme"
},
{
"begin_idx": "29",
"end_idx": "58",
"entity_id": "1636",
"entity_type": "Gene",
"text_name": "angiotensin converting enzyme"
}
] | [
{
"begin_idx": "608",
"end_idx": "647",
"entity_id": "D003924",
"entity_type": "Disease",
"text_name": "non-insulin-dependent diabetes mellitus"
},
{
"begin_idx": "679",
"end_idx": "702",
"entity_id": "D003324",
"entity_type": "Disease",
"text_name": "coronary artery dise... | [
"angiotensin converting enzyme",
"angiotensin converting enzyme"
] | [
"non-insulin-dependent diabetes mellitus",
"coronary artery disease"
] |
10371548 | Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group. | To confirm the clinical diagnosis in individual Dutch patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), we performed direct sequence analysis of the abnormal gene, Notch3, in patients from 11 families without prior linkage analysis to chromosome 19. Ele... | [
{
"begin_idx": "39",
"end_idx": "46",
"entity_id": "D046589",
"entity_type": "Disease",
"text_name": "CADASIL"
},
{
"begin_idx": "93",
"end_idx": "100",
"entity_id": "D046589",
"entity_type": "Disease",
"text_name": "CADASIL"
},
{
"begin_idx": "185",
"end_idx"... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "11",
"end_idx": "17",
"entity_id": "4854",
"entity_type": "Gene",
"text_name": "Notch3"
}
] | [
{
"begin_idx": "185",
"end_idx": "275",
"entity_id": "D046589",
"entity_type": "Disease",
"text_name": "cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy"
}
] | [
"Notch3"
] | [
"cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy"
] |
10372542 | CD28/CTLA4 gene region on chromosome 2q33 confers genetic susceptibility to celiac disease. A linkage and family-based association study. | Celiac disease (CD) is a common small intestinal injury caused by sensitivity to gliadin in genetically-predisposed individuals. The only susceptibility locus established is the HLA-DQ. We tested whether the chromosomal region of the CD28/CTLA4 genes on 2q33 is linked to CD. These genes encode receptors regulating the... | [
{
"begin_idx": "566",
"end_idx": "585",
"entity_id": "D001327",
"entity_type": "Disease",
"text_name": "autoimmune diseases"
},
{
"begin_idx": "1975",
"end_idx": "1994",
"entity_id": "D001327",
"entity_type": "Disease",
"text_name": "autoimmune diseases"
},
{
"beg... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "5",
"end_idx": "10",
"entity_id": "1493",
"entity_type": "Gene",
"text_name": "CTLA4"
},
{
"begin_idx": "0",
"end_idx": "4",
"entity_id": "940",
"entity_type": "Gene",
"text_name": "CD28"
}
] | [
{
"begin_idx": "76",
"end_idx": "90",
"entity_id": "D002446",
"entity_type": "Disease",
"text_name": "celiac disease"
},
{
"begin_idx": "1798",
"end_idx": "1800",
"entity_id": "D002446",
"entity_type": "Disease",
"text_name": "CD"
}
] | [
"CTLA4",
"CD28"
] | [
"celiac disease",
"CD"
] |
10376119 | Functional PAX-6 gene-linked polymorphic region: potential association with paranoid schizophrenia. | BACKGROUND: Early differentiation of the nervous system and adult CNS neuroplasticity is modulated by PAX-6. We have shown previously that a highly polymorphic, functional AC/AG repeat in the 5' regulatory region of the gene showed significantly increased promoter activity, if containing > or = 29 repeats, and that th... | [
{
"begin_idx": "85",
"end_idx": "98",
"entity_id": "D012559",
"entity_type": "Disease",
"text_name": "schizophrenia"
},
{
"begin_idx": "771",
"end_idx": "784",
"entity_id": "D012559",
"entity_type": "Disease",
"text_name": "schizophrenia"
},
{
"begin_idx": "954",
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "11",
"end_idx": "16",
"entity_id": "5080",
"entity_type": "Gene",
"text_name": "PAX-6"
},
{
"begin_idx": "489",
"end_idx": "494",
"entity_id": "5080",
"entity_type": "Gene",
"text_name": "PAX-6"
}
] | [
{
"begin_idx": "85",
"end_idx": "98",
"entity_id": "D012559",
"entity_type": "Disease",
"text_name": "schizophrenia"
},
{
"begin_idx": "800",
"end_idx": "819",
"entity_id": "D019964",
"entity_type": "Disease",
"text_name": "affective disorders"
}
] | [
"PAX-6",
"PAX-6"
] | [
"schizophrenia",
"affective disorders"
] |
10381328 | Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease. | Metachromatic leukodystrophy (MLD) is a lysosomal storage disease resulting from the deficient activity of arylsulfatase A (ASA) and the accumulation of sulfatides. The disease is characterized by several subtypes, designated by age at onset: the late-infantile-, juvenile-, and adult-onset variants. Mutation analysis ... | [
{
"begin_idx": "633",
"end_idx": "656",
"entity_id": "D004194",
"entity_type": "Disease",
"text_name": "infantile-onset disease"
},
{
"begin_idx": "0",
"end_idx": "28",
"entity_id": "D007966",
"entity_type": "Disease",
"text_name": "Metachromatic leukodystrophy"
},
{
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "278",
"end_idx": "293",
"entity_id": "410",
"entity_type": "Gene",
"text_name": "arylsulfatase A"
},
{
"begin_idx": "278",
"end_idx": "293",
"entity_id": "410",
"entity_type": "Gene",
"text_name": "arylsulfatase A"
}
] | [
{
"begin_idx": "0",
"end_idx": "28",
"entity_id": "D007966",
"entity_type": "Disease",
"text_name": "Metachromatic leukodystrophy"
},
{
"begin_idx": "211",
"end_idx": "236",
"entity_id": "D016464",
"entity_type": "Disease",
"text_name": "lysosomal storage disease"
}
] | [
"arylsulfatase A",
"arylsulfatase A"
] | [
"Metachromatic leukodystrophy",
"lysosomal storage disease"
] |
10381515 | Complexes of heparin and platelet factor 4 specifically stimulate T cells from patients with heparin-induced thrombocytopenia/thrombosis. | Heparin-induced thrombocytopenia with thrombosis (HITT) is associated with antibodies specific for complexes consisting of heparin and platelet factor 4 (PF4). Studies in individual patients with HITT have demonstrated immunoglobulin (Ig) class switching from IgM to the IgG or IgA isotypes. This transition is thought ... | [
{
"begin_idx": "858",
"end_idx": "882",
"entity_id": "D002292",
"entity_type": "Disease",
"text_name": "antigen-presenting cells"
},
{
"begin_idx": "884",
"end_idx": "887",
"entity_id": "D002292",
"entity_type": "Disease",
"text_name": "APC"
},
{
"begin_idx": "205... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "25",
"end_idx": "42",
"entity_id": "5196",
"entity_type": "Gene",
"text_name": "platelet factor 4"
},
{
"begin_idx": "1703",
"end_idx": "1707",
"entity_id": "4879",
"entity_type": "Gene",
"text_name": "CDR3"
}
] | [
{
"begin_idx": "138",
"end_idx": "186",
"entity_id": "D013921",
"entity_type": "Disease",
"text_name": "Heparin-induced thrombocytopenia with thrombosis"
},
{
"begin_idx": "2054",
"end_idx": "2075",
"entity_id": "D006402",
"entity_type": "Disease",
"text_name": "hematolog... | [
"platelet factor 4",
"CDR3"
] | [
"Heparin-induced thrombocytopenia with thrombosis",
"hematologic disorders"
] |
10381903 | A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis. | BACKGROUND _ AIMS: In pancreatitis, a key role has been attributed to the inappropriate conversion of trypsinogen to trypsin. Recently, two mutations of the cationic trypsinogen gene were found in families with hereditary pancreatitis. This study was conducted to determine the spectrum and frequency of cationic trypsi... | [
{
"begin_idx": "334",
"end_idx": "357",
"entity_id": "C537262",
"entity_type": "Disease",
"text_name": "hereditary pancreatitis"
},
{
"begin_idx": "485",
"end_idx": "530",
"entity_id": "C537262",
"entity_type": "Disease",
"text_name": "idiopathic or hereditary chronic pan... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "47",
"end_idx": "67",
"entity_id": "5644",
"entity_type": "Gene",
"text_name": "cationic trypsinogen"
},
{
"begin_idx": "718",
"end_idx": "738",
"entity_id": "5644",
"entity_type": "Gene",
"text_name": "cationic trypsinogen"
}
] | [
{
"begin_idx": "101",
"end_idx": "121",
"entity_id": "D050500",
"entity_type": "Disease",
"text_name": "chronic pancreatitis"
},
{
"begin_idx": "145",
"end_idx": "157",
"entity_id": "D010190",
"entity_type": "Disease",
"text_name": "pancreatitis"
}
] | [
"cationic trypsinogen",
"cationic trypsinogen"
] | [
"chronic pancreatitis",
"pancreatitis"
] |
10383749 | Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa. | The inherited mechanobullous disease, dystrophic epidermolysis bullosa, is caused by type VII collagen gene (COL7A1) mutations. We studied six unrelated patients with a distinct clinical subtype of this disease, epidermolysis bullosa pruriginosa, characterized by pruritus, excoriated prurigo nodules, and skin fragilit... | [
{
"begin_idx": "417",
"end_idx": "431",
"entity_id": "C536183",
"entity_type": "Disease",
"text_name": "skin fragility"
},
{
"begin_idx": "76",
"end_idx": "109",
"entity_id": "C563192",
"entity_type": "Disease",
"text_name": "epidermolysis bullosa pruriginosa"
},
{
... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "48",
"end_idx": "54",
"entity_id": "1294",
"entity_type": "Gene",
"text_name": "COL7A1"
},
{
"begin_idx": "682",
"end_idx": "688",
"entity_id": "1294",
"entity_type": "Gene",
"text_name": "COL7A1"
}
] | [
{
"begin_idx": "76",
"end_idx": "109",
"entity_id": "C563192",
"entity_type": "Disease",
"text_name": "epidermolysis bullosa pruriginosa"
},
{
"begin_idx": "417",
"end_idx": "431",
"entity_id": "C536183",
"entity_type": "Disease",
"text_name": "skin fragility"
}
] | [
"COL7A1",
"COL7A1"
] | [
"epidermolysis bullosa pruriginosa",
"skin fragility"
] |
10389978 | Genetic alterations in hepatocellular carcinomas: association between loss of chromosome 4q and p53 gene mutations. | The major risk factors for hepatocellular carcinomas (HCC) in high incidence areas include infection with hepatitis B and C viruses (HBV, HCV) and exposure to aflatoxin. Genetic alterations in 24 liver resection specimens from Shanghai and Qidong were studied. Hepatitis B virus was integrated in all patient samples, a... | [
{
"begin_idx": "207",
"end_idx": "233",
"entity_id": "D006509",
"entity_type": "Disease",
"text_name": "infection with hepatitis B"
},
{
"begin_idx": "377",
"end_idx": "394",
"entity_id": "D006509",
"entity_type": "Disease",
"text_name": "Hepatitis B virus"
},
{
"... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "96",
"end_idx": "99",
"entity_id": "7157",
"entity_type": "Gene",
"text_name": "p53"
},
{
"begin_idx": "705",
"end_idx": "708",
"entity_id": "7157",
"entity_type": "Gene",
"text_name": "p53"
}
] | [
{
"begin_idx": "23",
"end_idx": "48",
"entity_id": "D006528",
"entity_type": "Disease",
"text_name": "hepatocellular carcinomas"
},
{
"begin_idx": "377",
"end_idx": "394",
"entity_id": "D006509",
"entity_type": "Disease",
"text_name": "Hepatitis B virus"
}
] | [
"p53",
"p53"
] | [
"hepatocellular carcinomas",
"Hepatitis B virus"
] |
10391221 | Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. | Thiamine-responsive megaloblastic anaemia (TRMA), also known as Rogers syndrome, is an early onset, autosomal recessive disorder defined by the occurrence of megaloblastic anaemia, diabetes mellitus and sensorineural deafness, responding in varying degrees to thiamine treatment (MIM 249270). We have previously narrowe... | [
{
"begin_idx": "181",
"end_idx": "196",
"entity_id": "C536510",
"entity_type": "Disease",
"text_name": "Rogers syndrome"
},
{
"begin_idx": "27",
"end_idx": "68",
"entity_id": "D000740",
"entity_type": "Disease",
"text_name": "thiamine-responsive megaloblastic anaemia"
}... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "13",
"end_idx": "20",
"entity_id": "10560",
"entity_type": "Gene",
"text_name": "SLC19A2"
},
{
"begin_idx": "13",
"end_idx": "20",
"entity_id": "10560",
"entity_type": "Gene",
"text_name": "SLC19A2"
}
] | [
{
"begin_idx": "181",
"end_idx": "196",
"entity_id": "C536510",
"entity_type": "Disease",
"text_name": "Rogers syndrome"
},
{
"begin_idx": "160",
"end_idx": "164",
"entity_id": "D000740",
"entity_type": "Disease",
"text_name": "TRMA"
}
] | [
"SLC19A2",
"SLC19A2"
] | [
"Rogers syndrome",
"TRMA"
] |
10394937 | Association between coding variability in the LRP gene and the risk of late-onset Alzheimer's disease. | We have sequenced the entire (89 exons) open reading frame of the LRP gene in 12 cases of Alzheimer's disease (AD) from Northern France. We have found no novel changes but confirm the occurrence of a polymorphism in exon 6 of the gene (A216V). This polymorphism is rare (2.8% of controls) and is in linkage equilibrium ... | [
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{
"begin_... | [
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] | [
{
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}
] | [
"LRP"
] | [
"Alzheimer's disease"
] |
10395102 | Association of tumor necrosis factor receptor 2 (TNFR2) polymorphism with susceptibility to systemic lupus erythematosus. | Multiple genetic as well as environmental factors are considered to be involved in the development of systemic lupus erythematosus (SLE). A number of previous studies have suggested a possible role for tumor necrosis factor (TNF) in the pathogenesis of SLE. In addition, one of the candidate loci suggested by the genom... | [
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{
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"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "systemic lupus erythematosus"
... | [
"Yes",
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] | [
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true
] | [
{
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{
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"entity_id": "3123",
"entity_type": "Gene",
"text_name": "HLA-DRB1"
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] | [
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{
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"end_idx": "378",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "SLE"
}
] | [
"tumor necrosis factor receptor 2",
"HLA-DRB1"
] | [
"systemic lupus erythematosus",
"SLE"
] |
10395222 | Association between the functional variant of the catechol-O-methyltransferase (COMT) gene and type 1 alcoholism. | Catechol-O-methyltransferase (COMT) is an enzyme which has a crucial role in the metabolism of dopamine. It has been suggested that a common functional genetic polymorphism in the COMT gene, which results in 3 to 4-fold difference in COMT enzyme activity, may contribute to the etiology of mental disorders such as bipo... | [
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{
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... | [
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] | [
true,
false
] | [
{
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{
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] | [
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{
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"text_name": "HH"
}
] | [
"catechol-O-methyltransferase",
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] | [
"alcoholism",
"HH"
] |
10395868 | Polymorphism of the interleukin-10 gene is associated with susceptibility to Epstein-Barr virus infection. | There are indications that the cytokine interleukin (IL)-10 has a regulatory role in Epstein-Barr virus (EBV)-induced infections. Because the human IL-10 gene demonstrates polymorphism resulting in interindividual differences in cytokine production, the frequencies of the alleles defined by the base exchange polymorph... | [
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"entity_type": "Disease",
"text_name": "Epstein-Barr virus infection"
},
{
"begin_... | [
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] | [
true,
false
] | [
{
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{
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"end_idx": "724",
"entity_id": "3586",
"entity_type": "Gene",
"text_name": "IL-10"
}
] | [
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{
"begin_idx": "225",
"end_idx": "235",
"entity_id": "D007239",
"entity_type": "Disease",
"text_name": "infections"
}
] | [
"IL-10",
"IL-10"
] | [
"Epstein-Barr virus infection",
"infections"
] |
10397258 | hSNF5/INI1 inactivation is mainly associated with homozygous deletions and mitotic recombinations in rhabdoid tumors. | The chromatin-remodeling hSNF5/INI1 gene has recently been shown to act as a tumor suppressor gene in rhabdoid tumors (RTs). In an attempt to further characterize the main chromosomal mechanisms involved in hSNF5/INI1 inactivation in RTs, we report here the molecular cytogenetic data obtained in 12 cell lines harborin... | [
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"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "tumor"
},
{
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"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "tumors"
},
{
"begin_idx": "1264",
"end_i... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "0",
"end_idx": "5",
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{
"begin_idx": "325",
"end_idx": "330",
"entity_id": "6598",
"entity_type": "Gene",
"text_name": "hSNF5"
}
] | [
{
"begin_idx": "101",
"end_idx": "116",
"entity_id": "D018335",
"entity_type": "Disease",
"text_name": "rhabdoid tumors"
},
{
"begin_idx": "1264",
"end_idx": "1270",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "tumors"
}
] | [
"hSNF5",
"hSNF5"
] | [
"rhabdoid tumors",
"tumors"
] |
10398237 | Carpenter-Waziri syndrome results from a mutation in XNP. | [
{
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"entity_id": "C537457",
"entity_type": "Disease",
"text_name": "Carpenter-Waziri syndrome"
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{
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"end_idx": "56",
"entity_id": "546",
"entity_type": "Gene",
"text_name": "XNP"
}
] | [
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] | [
true
] | [
{
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"text_name": "XNP"
}
] | [
{
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"entity_id": "C537457",
"entity_type": "Disease",
"text_name": "Carpenter-Waziri syndrome"
}
] | [
"XNP"
] | [
"Carpenter-Waziri syndrome"
] | |
10399104 | Is the common 844ins68 polymorphism in the cystathionine beta-synthase gene associated with atherosclerosis? | [
{
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"entity_id": "D050197",
"entity_type": "Disease",
"text_name": "atherosclerosis"
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"entity_type": "Gene",
"text_name": "cystathionine beta-synthase"
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] | [
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"text_name": "cystathionine beta-synthase"
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"entity_id": "D050197",
"entity_type": "Disease",
"text_name": "atherosclerosis"
}
] | [
"cystathionine beta-synthase"
] | [
"atherosclerosis"
] | |
10399947 | Germline brca2 sequence variants in patients with ocular melanoma. | On the basis, chiefly, of anecdotal reports of cases of ocular melanoma (OM) occurring in families with inherited susceptibility to breast cancer due to brca2 germline mutations, we examined the frequency of brca2 alterations in a series of 62 ocular melanoma cases. These cases were preferentially selected on the basi... | [
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"entity_id": "D001943",
"entity_type": "Disease",
"text_name": "breast cancer"
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{
"begin_idx": "1045... | [
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{
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"entity_id": "675",
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"text_name": "brca2"
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{
"begin_idx": "833",
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"entity_id": "D008545",
"entity_type": "Disease",
"text_name": "OM"
}
] | [
"brca2",
"brca2"
] | [
"breast cancer",
"OM"
] |
10400139 | Chemokine receptor CCR2 and CCR5 polymorphisms in children with insulin-dependent diabetes mellitus. | Studies have shown the important roles of several regulatory and proinflammatory cytokines in insulin-dependent diabetes mellitus (IDDM). CC-chemokine receptors CCR2 and CCR5 bind chemokines that are involved in the trafficking of leukocytes in both basal and inflammatory states. A common 32-bp deletion mutation in th... | [
{
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{
"begin_idx": "195",
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"entity_id": "D003922",
"entity_type": "Disease",
"text_name": "insulin-dependent diabetes... | [
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true
] | [
{
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{
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"entity_id": "729230",
"entity_type": "Gene",
"text_name": "CCR2"
}
] | [
{
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"text_name": "insulin-dependent diabetes mellitus"
},
{
"begin_idx": "664",
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"entity_id": "D003922",
"entity_type": "Disease",
"text_name": "IDDM"
}
] | [
"CCR5",
"CCR2"
] | [
"insulin-dependent diabetes mellitus",
"IDDM"
] |
10400907 | Modulation of extracellular superoxide dismutase expression by angiotensin II and hypertension. | Angiotensin II and hypertension increase vascular oxidant stress. We examined how these might affect expression of the extracellular superoxide dismutase (ecSOD), a major form of vascular SOD. In mice, angiotensin II infusion (1.1 mg/kg for 7 days) increased systolic blood pressure from 107+/-3 to 152+/-9 mm Hg and ca... | [
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},
{
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... | [
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] | [
true,
true
] | [
{
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{
"begin_idx": "688",
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"entity_id": "6649",
"entity_type": "Gene",
"text_name": "ecSOD"
}
] | [
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{
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"entity_id": "D006973",
"entity_type": "Disease",
"text_name": "hypertension"
}
] | [
"angiotensin II",
"ecSOD"
] | [
"hypertension",
"hypertension"
] |
10400992 | Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds. | Mutations in superoxide dismutase 1 (SOD1) polypeptides cause a form of familial amyotrophic lateral sclerosis (FALS). In different kindreds, harboring different mutations, the duration of illness tends to be similar for a given mutation. For example, patients inheriting a substitution of valine for alanine at positio... | [
{
"begin_idx": "132",
"end_idx": "170",
"entity_id": "C531617",
"entity_type": "Disease",
"text_name": "familial amyotrophic lateral sclerosis"
},
{
"begin_idx": "253",
"end_idx": "291",
"entity_id": "C531617",
"entity_type": "Disease",
"text_name": "familial amyotrophic ... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "62",
"end_idx": "84",
"entity_id": "6647",
"entity_type": "Gene",
"text_name": "superoxide dismutase 1"
}
] | [
{
"begin_idx": "132",
"end_idx": "170",
"entity_id": "C531617",
"entity_type": "Disease",
"text_name": "familial amyotrophic lateral sclerosis"
}
] | [
"superoxide dismutase 1"
] | [
"familial amyotrophic lateral sclerosis"
] |
10401001 | Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis. | Mevalonic aciduria is a rare autosomal recessive metabolic disorder, characterized by psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. The disorder is caused by a deficient activity of mevalonate kinase due to mutations in the encoding gene. Thus far, only two diseas... | [
{
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"entity_id": "C535727",
"entity_type": "Disease",
"text_name": "hepatosplenomegaly"
},
{
"begin_idx": "311",
"end_idx": "317",
"entity_id": "D000740",
"entity_type": "Disease",
"text_name": "anemia"
},
{
"begin_idx": "247",
... | [
"Yes",
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] | [
true,
false
] | [
{
"begin_idx": "73",
"end_idx": "90",
"entity_id": "4598",
"entity_type": "Gene",
"text_name": "mevalonate kinase"
},
{
"begin_idx": "644",
"end_idx": "661",
"entity_id": "4598",
"entity_type": "Gene",
"text_name": "mevalonate kinase"
}
] | [
{
"begin_idx": "104",
"end_idx": "122",
"entity_id": "D054078",
"entity_type": "Disease",
"text_name": "mevalonic aciduria"
},
{
"begin_idx": "311",
"end_idx": "317",
"entity_id": "D000740",
"entity_type": "Disease",
"text_name": "anemia"
}
] | [
"mevalonate kinase",
"mevalonate kinase"
] | [
"mevalonic aciduria",
"anemia"
] |
10401004 | Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease. | Menkes disease is an X-linked disorder of copper metabolism. An overall copper deficiency reduces the activity of copper-dependent enzymes accounting for the clinical presentation of affected individuals. The Menkes gene product (MNK) is a P-type ATPase and is considered to be the main copper efflux protein in most ce... | [
{
"begin_idx": "207",
"end_idx": "232",
"entity_id": "C535468",
"entity_type": "Disease",
"text_name": "overall copper deficiency"
},
{
"begin_idx": "586",
"end_idx": "603",
"entity_id": "C535468",
"entity_type": "Disease",
"text_name": "copper conditions"
},
{
"b... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "373",
"end_idx": "376",
"entity_id": "538",
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"text_name": "MNK"
},
{
"begin_idx": "373",
"end_idx": "376",
"entity_id": "538",
"entity_type": "Gene",
"text_name": "MNK"
}
] | [
{
"begin_idx": "164",
"end_idx": "202",
"entity_id": "D007706",
"entity_type": "Disease",
"text_name": "X-linked disorder of copper metabolism"
},
{
"begin_idx": "507",
"end_idx": "527",
"entity_id": "D012183",
"entity_type": "Disease",
"text_name": "trans -Golgi network"... | [
"MNK",
"MNK"
] | [
"X-linked disorder of copper metabolism",
"trans -Golgi network"
] |
10402502 | Trend for an association between schizophrenia and D3S1310, a marker in proximity to the dopamine D3 receptor gene. | There is considerable controversy regarding a putative association between schizophrenia and a biallelic BalI polymorphism in the first exon of the dopamine D3 receptor gene (DRD3), although meta-analyses of published data suggest an association. If such an association exists, it may be detectable at markers physicall... | [
{
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"entity_id": "D012559",
"entity_type": "Disease",
"text_name": "schizophrenia"
},
{
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"end_idx": "204",
"entity_id": "D012559",
"entity_type": "Disease",
"text_name": "schizophrenia"
},
{
"begin_idx": "670",
... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "291",
"end_idx": "295",
"entity_id": "1814",
"entity_type": "Gene",
"text_name": "DRD3"
}
] | [
{
"begin_idx": "33",
"end_idx": "46",
"entity_id": "D012559",
"entity_type": "Disease",
"text_name": "schizophrenia"
}
] | [
"DRD3"
] | [
"schizophrenia"
] |
10402509 | -141 C del/ins polymorphism of the dopamine receptor 2 gene is associated with schizophrenia in a British population. | Dopamine has long been hypothesised to be involved in the pathogenesis of schizophrenia. The dopamine D2 receptor is a major site of action of neuroleptic agents used in the treatment of schizophrenia. Arinami et al. [1997; Human Mol Genet 6:577-582] have recently sequenced the dopamine receptor 2 (DRD2) gene in Japan... | [
{
"begin_idx": "79",
"end_idx": "92",
"entity_id": "D012559",
"entity_type": "Disease",
"text_name": "schizophrenia"
},
{
"begin_idx": "192",
"end_idx": "205",
"entity_id": "D012559",
"entity_type": "Disease",
"text_name": "schizophrenia"
},
{
"begin_idx": "305",
... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "211",
"end_idx": "231",
"entity_id": "1813",
"entity_type": "Gene",
"text_name": "dopamine D2 receptor"
}
] | [
{
"begin_idx": "859",
"end_idx": "873",
"entity_id": "D012559",
"entity_type": "Disease",
"text_name": "schizophrenics"
}
] | [
"dopamine D2 receptor"
] | [
"schizophrenics"
] |
10403259 | HLA-DRB1 alleles associated with susceptibility or resistance to rheumatoid arthritis, articular deformities, and disability in Mexican Americans. | OBJECTIVE: To study the genetics (HLA-DRB1 allele associations) of rheumatoid arthritis (RA) susceptibility and severity among Mexican Americans, an important, but understudied, US population. METHODS: HLA-DRB1 alleles were compared between 141 Mexican American patients with RA and 54 unrelated Mexican Americans witho... | [
{
"begin_idx": "65",
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"entity_id": "D001172",
"entity_type": "Disease",
"text_name": "rheumatoid arthritis"
},
{
"begin_idx": "214",
"end_idx": "234",
"entity_id": "D001172",
"entity_type": "Disease",
"text_name": "rheumatoid arthritis"
},
{
"begin... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "0",
"end_idx": "8",
"entity_id": "3123",
"entity_type": "Gene",
"text_name": "HLA-DRB1"
},
{
"begin_idx": "1281",
"end_idx": "1285",
"entity_id": "3123",
"entity_type": "Gene",
"text_name": "DRB1"
}
] | [
{
"begin_idx": "65",
"end_idx": "85",
"entity_id": "D001172",
"entity_type": "Disease",
"text_name": "rheumatoid arthritis"
},
{
"begin_idx": "87",
"end_idx": "108",
"entity_id": "D009140",
"entity_type": "Disease",
"text_name": "articular deformities"
}
] | [
"HLA-DRB1",
"DRB1"
] | [
"rheumatoid arthritis",
"articular deformities"
] |
10403400 | The combination of polymorphisms within interferon-gamma receptor 1 and receptor 2 associated with the risk of systemic lupus erythematosus. | Genetic factors seem to play a significant role in susceptibility to systemic lupus erythematosus (SLE). We previously described the amino acid polymorphism (Val14Met) within the IFN-gamma receptor 1 (IFN-gammaRI), and that the frequency of the Metl4 allele in SLE patients was significantly higher than that of the hea... | [
{
"begin_idx": "111",
"end_idx": "139",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "systemic lupus erythematosus"
},
{
"begin_idx": "210",
"end_idx": "238",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "systemic lupus erythematosus"
... | [
"Yes",
"Yes",
"No",
"No"
] | [
true,
true,
true,
true
] | [
{
"begin_idx": "40",
"end_idx": "82",
"entity_id": "3459",
"entity_type": "Gene",
"text_name": "interferon-gamma receptor 1 and receptor 2"
},
{
"begin_idx": "594",
"end_idx": "614",
"entity_id": "3460",
"entity_type": "Gene",
"text_name": "IFN-gamma receptor 2"
},
{
... | [
{
"begin_idx": "111",
"end_idx": "139",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "systemic lupus erythematosus"
},
{
"begin_idx": "111",
"end_idx": "139",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "systemic lupus erythematosus"
... | [
"interferon-gamma receptor 1 and receptor 2",
"IFN-gamma receptor 2",
"IFN-gamma",
"IFN-gamma"
] | [
"systemic lupus erythematosus",
"systemic lupus erythematosus",
"systemic lupus erythematosus",
"systemic lupus erythematosus"
] |
10404084 | Association between CYP17 gene polymorphism and risk of breast cancer in young women. | Long-term exposure to oestrogens is a well-recognised risk factor for breast cancer, whereas little is known about the influence of polymorphisms of genes involved in oestrogen biosynthesis and metabolism. A candidate, containing a single bp polymorphism, T-->C, (designated, A2 allele), might be the CYP17 gene, which ... | [
{
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"entity_type": "Disease",
"text_name": "breast cancer"
},
{
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"end_idx": "169",
"entity_id": "D001943",
"entity_type": "Disease",
"text_name": "breast cancer"
},
{
"begin_idx": "714",
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "20",
"end_idx": "25",
"entity_id": "1586",
"entity_type": "Gene",
"text_name": "CYP17"
},
{
"begin_idx": "20",
"end_idx": "25",
"entity_id": "1586",
"entity_type": "Gene",
"text_name": "CYP17"
}
] | [
{
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"end_idx": "69",
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"text_name": "breast cancer"
},
{
"begin_idx": "1419",
"end_idx": "1425",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "Cancer"
}
] | [
"CYP17",
"CYP17"
] | [
"breast cancer",
"Cancer"
] |
10404093 | Overexpression of cyclooxygenase-2 protein is less frequent in gastric cancers with microsatellite instability. | Overexpression of cyclooxygenase-2 (COX-2) has been reported in gastric cancers. However, the relationship between expression of COX-2 and clinico-pathological or genotypic features has not been elucidated. To address the issue, expression of COX-2 protein was analyzed in 100 gastric cancers as well as 7 gastric cance... | [
{
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"end_idx": "668",
"entity_id": "D009362",
"entity_type": "Disease",
"text_name": "metastasis"
},
{
"begin_idx": "501",
"end_idx": "507",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "cancer"
},
{
"begin_idx": "682",
"end... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "18",
"end_idx": "34",
"entity_id": "5743",
"entity_type": "Gene",
"text_name": "cyclooxygenase-2"
},
{
"begin_idx": "355",
"end_idx": "360",
"entity_id": "5743",
"entity_type": "Gene",
"text_name": "COX-2"
}
] | [
{
"begin_idx": "63",
"end_idx": "78",
"entity_id": "D013274",
"entity_type": "Disease",
"text_name": "gastric cancers"
},
{
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"end_idx": "949",
"entity_id": "D053842",
"entity_type": "Disease",
"text_name": "MSI"
}
] | [
"cyclooxygenase-2",
"COX-2"
] | [
"gastric cancers",
"MSI"
] |
10405934 | Frequency of the Fc gamma RIIIA-158F allele in African American patients with systemic lupus erythematosus. | OBJECTIVE: Defects in genes involved in immune complex clearance constitute one of the most common gene defects identified in patients with systemic lupus erythematosus (SLE). Defects in early complement components, complement receptors, and Fc receptors have all been implicated in the susceptibility to SLE. Recently,... | [
{
"begin_idx": "78",
"end_idx": "106",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "systemic lupus erythematosus"
},
{
"begin_idx": "248",
"end_idx": "276",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "systemic lupus erythematosus"
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "566",
"end_idx": "579",
"entity_id": "2214",
"entity_type": "Gene",
"text_name": "FC gamma RIII"
},
{
"begin_idx": "566",
"end_idx": "579",
"entity_id": "2214",
"entity_type": "Gene",
"text_name": "FC gamma RIII"
}
] | [
{
"begin_idx": "78",
"end_idx": "106",
"entity_id": "D008180",
"entity_type": "Disease",
"text_name": "systemic lupus erythematosus"
},
{
"begin_idx": "730",
"end_idx": "739",
"entity_id": "D009393",
"entity_type": "Disease",
"text_name": "nephritis"
}
] | [
"FC gamma RIII",
"FC gamma RIII"
] | [
"systemic lupus erythematosus",
"nephritis"
] |
10406990 | Association of the APOE epsilon4 allele with disease activity in multiple sclerosis. | OBJECTIVES: Allelic variants of the APOE gene are known to influence the course of many neurological diseases and there is increasing evidence that apolipoprotein E (APOE) is a pivotal component in reinnervation and dendritic remodelling after neuronal injury. Previous studies did not show significant differences in t... | [
{
"begin_idx": "65",
"end_idx": "83",
"entity_id": "D009103",
"entity_type": "Disease",
"text_name": "multiple sclerosis"
},
{
"begin_idx": "434",
"end_idx": "452",
"entity_id": "D009103",
"entity_type": "Disease",
"text_name": "multiple sclerosis"
},
{
"begin_idx... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "233",
"end_idx": "249",
"entity_id": "348",
"entity_type": "Gene",
"text_name": "apolipoprotein E"
},
{
"begin_idx": "1177",
"end_idx": "1181",
"entity_id": "348",
"entity_type": "Gene",
"text_name": "APOE"
}
] | [
{
"begin_idx": "65",
"end_idx": "83",
"entity_id": "D009103",
"entity_type": "Disease",
"text_name": "multiple sclerosis"
},
{
"begin_idx": "173",
"end_idx": "194",
"entity_id": "D009422",
"entity_type": "Disease",
"text_name": "neurological diseases"
}
] | [
"apolipoprotein E",
"APOE"
] | [
"multiple sclerosis",
"neurological diseases"
] |
10408777 | Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families. | The Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder in which gastrointestinal hamartomatous polyposis, mucocutaneous pigmentation, and a predisposition for developing cancer are transmitted in an autosomal dominant fashion. The recently identified LKB1/STK11 gene located at chromosome 19p13.3 is mutated in ... | [
{
"begin_idx": "250",
"end_idx": "256",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "cancer"
},
{
"begin_idx": "48",
"end_idx": "61",
"entity_id": "D010580",
"entity_type": "Disease",
"text_name": "Peutz-Jeghers"
},
{
"begin_idx": "76",
"end... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "28",
"end_idx": "33",
"entity_id": "6794",
"entity_type": "Gene",
"text_name": "STK11"
},
{
"begin_idx": "838",
"end_idx": "843",
"entity_id": "6794",
"entity_type": "Gene",
"text_name": "STK11"
}
] | [
{
"begin_idx": "161",
"end_idx": "184",
"entity_id": "D010580",
"entity_type": "Disease",
"text_name": "hamartomatous polyposis"
},
{
"begin_idx": "250",
"end_idx": "256",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "cancer"
}
] | [
"STK11",
"STK11"
] | [
"hamartomatous polyposis",
"cancer"
] |
10408778 | Steroid 21-hydroxylase deficiency: mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis. | We have investigated 68 unrelated 21-hydroxylase deficient Danish patients, representing 136 alleles, and determined the mutational spectrum of the CYP21 gene. The most frequent mutations detected were deletion of CYP21 and the splice mutation in intron 2 (I2-splice). Segregation analysis showed evidence of a de novo ... | [
{
"begin_idx": "0",
"end_idx": "33",
"entity_id": "C535979",
"entity_type": "Disease",
"text_name": "Steroid 21-hydroxylase deficiency"
},
{
"begin_idx": "272",
"end_idx": "277",
"entity_id": "1589",
"entity_type": "Gene",
"text_name": "CYP21"
},
{
"begin_idx": "3... | [
"Yes"
] | [
false
] | [
{
"begin_idx": "272",
"end_idx": "277",
"entity_id": "1589",
"entity_type": "Gene",
"text_name": "CYP21"
}
] | [
{
"begin_idx": "0",
"end_idx": "33",
"entity_id": "C535979",
"entity_type": "Disease",
"text_name": "Steroid 21-hydroxylase deficiency"
}
] | [
"CYP21"
] | [
"Steroid 21-hydroxylase deficiency"
] |
10408783 | A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online. | Five novel mutations are described which result in the rare hyperphenylalaninemia DHPR-deficiency. Three of these are located at different intron/exon boundaries within the DHPR gene, and disrupt the maturation of the DHPR transcript such that little full-length mRNA can be detected by RT-PCR. Each mutation alters a c... | [
{
"begin_idx": "219",
"end_idx": "261",
"entity_id": "D010661",
"entity_type": "Disease",
"text_name": "rare hyperphenylalaninemia DHPR-deficiency"
},
{
"begin_idx": "106",
"end_idx": "110",
"entity_id": "5860",
"entity_type": "Gene",
"text_name": "DHPR"
},
{
"beg... | [
"Yes"
] | [
false
] | [
{
"begin_idx": "106",
"end_idx": "110",
"entity_id": "5860",
"entity_type": "Gene",
"text_name": "DHPR"
}
] | [
{
"begin_idx": "219",
"end_idx": "261",
"entity_id": "D010661",
"entity_type": "Disease",
"text_name": "rare hyperphenylalaninemia DHPR-deficiency"
}
] | [
"DHPR"
] | [
"rare hyperphenylalaninemia DHPR-deficiency"
] |
10408784 | Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation. Mutations in brief no. 245. Online. | Hemophilia A is an X-linked bleeding disease caused by mutations in the coagulation factor VIII gene. The identification and characterization of pathogenic mutations allows the recognition of new mechanisms of functional disturbances of factor VIII. To screen for mutations exons 1-26 of the factor VIII gene have been ... | [
{
"begin_idx": "180",
"end_idx": "192",
"entity_id": "D006467",
"entity_type": "Disease",
"text_name": "Hemophilia A"
},
{
"begin_idx": "815",
"end_idx": "827",
"entity_id": "D006467",
"entity_type": "Disease",
"text_name": "hemophilia A"
},
{
"begin_idx": "1050",... | [
"Yes",
"No"
] | [
false,
true
] | [
{
"begin_idx": "252",
"end_idx": "275",
"entity_id": "2157",
"entity_type": "Gene",
"text_name": "coagulation factor VIII"
},
{
"begin_idx": "252",
"end_idx": "275",
"entity_id": "2157",
"entity_type": "Gene",
"text_name": "coagulation factor VIII"
}
] | [
{
"begin_idx": "180",
"end_idx": "192",
"entity_id": "D006467",
"entity_type": "Disease",
"text_name": "Hemophilia A"
},
{
"begin_idx": "199",
"end_idx": "224",
"entity_id": "D040181",
"entity_type": "Disease",
"text_name": "X-linked bleeding disease"
}
] | [
"coagulation factor VIII",
"coagulation factor VIII"
] | [
"Hemophilia A",
"X-linked bleeding disease"
] |
10408807 | Reduction of ischemic damage in NGF-transgenic mice: correlation with enhancement of antioxidant enzyme activities. | If permanent focal ischemia is induced by middle cerebral artery occlusion (MCAO), neurons within the infarcted territory die by necrosis and apoptosis (or programmed cell death). We have previously shown, using a mouse strain transgenic (tg) for the nerve growth factor (NGF) gene, that tg mice have consistently small... | [
{
"begin_idx": "13",
"end_idx": "28",
"entity_id": "D002545",
"entity_type": "Disease",
"text_name": "ischemic damage"
},
{
"begin_idx": "135",
"end_idx": "143",
"entity_id": "D007511",
"entity_type": "Disease",
"text_name": "ischemia"
},
{
"begin_idx": "245",
... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "367",
"end_idx": "386",
"entity_id": "4803",
"entity_type": "Gene",
"text_name": "nerve growth factor"
},
{
"begin_idx": "388",
"end_idx": "391",
"entity_id": "4803",
"entity_type": "Gene",
"text_name": "NGF"
}
] | [
{
"begin_idx": "158",
"end_idx": "190",
"entity_id": "D020244",
"entity_type": "Disease",
"text_name": "middle cerebral artery occlusion"
},
{
"begin_idx": "135",
"end_idx": "143",
"entity_id": "D007511",
"entity_type": "Disease",
"text_name": "ischemia"
}
] | [
"nerve growth factor",
"NGF"
] | [
"middle cerebral artery occlusion",
"ischemia"
] |
10408973 | The CTLA-4 gene is associated with multiple sclerosis. | We have investigated whether three intragenic polymorphisms of the CTLA-4 gene, a C/T base exchange in the promoter (p.-318), an A/G substitution in exon 1 (p.49) and a dinucleotide repeat polymorphism in exon 4 (p.642), were associated with genetic susceptibility to multiple sclerosis (MS). We observed a significant ... | [
{
"begin_idx": "35",
"end_idx": "53",
"entity_id": "D009103",
"entity_type": "Disease",
"text_name": "multiple sclerosis"
},
{
"begin_idx": "323",
"end_idx": "341",
"entity_id": "D009103",
"entity_type": "Disease",
"text_name": "multiple sclerosis"
},
{
"begin_idx... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "4",
"end_idx": "10",
"entity_id": "1493",
"entity_type": "Gene",
"text_name": "CTLA-4"
}
] | [
{
"begin_idx": "35",
"end_idx": "53",
"entity_id": "D009103",
"entity_type": "Disease",
"text_name": "multiple sclerosis"
}
] | [
"CTLA-4"
] | [
"multiple sclerosis"
] |
10411504 | An allele of COL9A2 associated with intervertebral disc disease. | Intervertebral disc disease is one of the most common musculoskeletal disorders. A number of environmental and anthropometric risk factors may contribute to it, and recent reports have suggested the importance of genetic factors as well. The COL9A2 gene, which codes for one of the polypeptide chains of collagen IX tha... | [
{
"begin_idx": "36",
"end_idx": "63",
"entity_id": "C535531",
"entity_type": "Disease",
"text_name": "intervertebral disc disease"
},
{
"begin_idx": "65",
"end_idx": "92",
"entity_id": "C535531",
"entity_type": "Disease",
"text_name": "Intervertebral disc disease"
},
... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "13",
"end_idx": "19",
"entity_id": "1298",
"entity_type": "Gene",
"text_name": "COL9A2"
},
{
"begin_idx": "307",
"end_idx": "313",
"entity_id": "1298",
"entity_type": "Gene",
"text_name": "COL9A2"
}
] | [
{
"begin_idx": "36",
"end_idx": "63",
"entity_id": "C535531",
"entity_type": "Disease",
"text_name": "intervertebral disc disease"
},
{
"begin_idx": "119",
"end_idx": "144",
"entity_id": "D009140",
"entity_type": "Disease",
"text_name": "musculoskeletal disorders"
}
] | [
"COL9A2",
"COL9A2"
] | [
"intervertebral disc disease",
"musculoskeletal disorders"
] |
10417275 | Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry. | Mevalonate kinase (MKase) deficiency (MKD) is a rare autosomal recessive disorder in the pathway of cholesterol and nonsterol isoprenoid biosynthesis. Thus far, two disease-causing missense alleles have been identified, N301T and A334T. We report four additional mutations associated with MKD: L264F, T243I, L265P, and ... | [
{
"begin_idx": "184",
"end_idx": "212",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "autosomal recessive disorder"
},
{
"begin_idx": "40",
"end_idx": "68",
"entity_id": "D054078",
"entity_type": "Disease",
"text_name": "mevalonate kinase deficiency"
}... | [
"Yes",
"No"
] | [
false,
true
] | [
{
"begin_idx": "150",
"end_idx": "155",
"entity_id": "4598",
"entity_type": "Gene",
"text_name": "MKase"
},
{
"begin_idx": "1243",
"end_idx": "1248",
"entity_id": "4598",
"entity_type": "Gene",
"text_name": "MKase"
}
] | [
{
"begin_idx": "131",
"end_idx": "167",
"entity_id": "D054078",
"entity_type": "Disease",
"text_name": "Mevalonate kinase (MKase) deficiency"
},
{
"begin_idx": "184",
"end_idx": "212",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "autosomal recessive dis... | [
"MKase",
"MKase"
] | [
"Mevalonate kinase (MKase) deficiency",
"autosomal recessive disorder"
] |
10418172 | Influence of polymorphism at p53, CYP1A1 and GSTM1 loci on p53 mutation and association of p53 mutation with prognosis in lung cancer. | BACKGROUND: We previously found that the majority (9/11) of p53 tumor suppressor gene mutations in 60 lung cancer patients in Taiwan were small intragenic deletions and nonsense mutations. To gain insights into the possible etiologic factors involved in these mutations and the prognostic significance of p53 gene mutat... | [
{
"begin_idx": "122",
"end_idx": "133",
"entity_id": "D008175",
"entity_type": "Disease",
"text_name": "lung cancer"
},
{
"begin_idx": "237",
"end_idx": "248",
"entity_id": "D008175",
"entity_type": "Disease",
"text_name": "lung cancer"
},
{
"begin_idx": "462",
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "539",
"end_idx": "558",
"entity_id": "1543",
"entity_type": "Gene",
"text_name": "cytochrome p450 1A1"
},
{
"begin_idx": "659",
"end_idx": "662",
"entity_id": "7157",
"entity_type": "Gene",
"text_name": "p53"
}
] | [
{
"begin_idx": "122",
"end_idx": "133",
"entity_id": "D008175",
"entity_type": "Disease",
"text_name": "lung cancer"
},
{
"begin_idx": "1382",
"end_idx": "1393",
"entity_id": "D008175",
"entity_type": "Disease",
"text_name": "lung cancer"
}
] | [
"cytochrome p450 1A1",
"p53"
] | [
"lung cancer",
"lung cancer"
] |
10421657 | Expression and inducibility of the human bilirubin UDP-glucuronosyltransferase UGT1A1 in liver and cultured primary hepatocytes: evidence for both genetic and environmental influences. | In Crigler-Najjar type II patients and, recently, in Crigler-Najjar type I patients treated with human hepatocyte cell therapy, phenobarbital has been used for reducing the serum bilirubin load. Its effect is attributed to induction of the enzyme required for hepatic bilirubin elimination, UDP-glucuronosyltransferase,... | [
{
"begin_idx": "188",
"end_idx": "210",
"entity_id": "C536213",
"entity_type": "Disease",
"text_name": "Crigler-Najjar type II"
},
{
"begin_idx": "238",
"end_idx": "259",
"entity_id": "D003414",
"entity_type": "Disease",
"text_name": "Crigler-Najjar type I"
},
{
"... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "79",
"end_idx": "85",
"entity_id": "54658",
"entity_type": "Gene",
"text_name": "UGT1A1"
},
{
"begin_idx": "1032",
"end_idx": "1038",
"entity_id": "54658",
"entity_type": "Gene",
"text_name": "UGT1A1"
}
] | [
{
"begin_idx": "1123",
"end_idx": "1141",
"entity_id": "D005878",
"entity_type": "Disease",
"text_name": "Gilbert's syndrome"
},
{
"begin_idx": "1903",
"end_idx": "1921",
"entity_id": "D006932",
"entity_type": "Disease",
"text_name": "hyperbilirubinemia"
}
] | [
"UGT1A1",
"UGT1A1"
] | [
"Gilbert's syndrome",
"hyperbilirubinemia"
] |
10422803 | An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F). | Familial hypercholesterolemia (FH) is caused by a defect in the function of the low density lipoprotein (LDL) receptor and inherited in an autosomal, codominant way. In this study we present a 13-year-old girl, compound heterozygote for the LDL receptor mutations C240F and Y167X. Fibroblasts from the patient showed ve... | [
{
"begin_idx": "1205",
"end_idx": "1225",
"entity_id": "D006937",
"entity_type": "Disease",
"text_name": "hypercholesterolemia"
},
{
"begin_idx": "95",
"end_idx": "124",
"entity_id": "D006938",
"entity_type": "Disease",
"text_name": "Familial hypercholesterolemia"
},
... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "175",
"end_idx": "213",
"entity_id": "3949",
"entity_type": "Gene",
"text_name": "low density lipoprotein (LDL) receptor"
},
{
"begin_idx": "714",
"end_idx": "726",
"entity_id": "3949",
"entity_type": "Gene",
"text_name": "LDL receptor"
}
] | [
{
"begin_idx": "95",
"end_idx": "124",
"entity_id": "D006938",
"entity_type": "Disease",
"text_name": "Familial hypercholesterolemia"
},
{
"begin_idx": "1205",
"end_idx": "1225",
"entity_id": "D006937",
"entity_type": "Disease",
"text_name": "hypercholesterolemia"
}
] | [
"low density lipoprotein (LDL) receptor",
"LDL receptor"
] | [
"Familial hypercholesterolemia",
"hypercholesterolemia"
] |
10425041 | Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome. | We report 9 new mutations in German patients presenting with classical Marfan syndrome. All mutations occur in exons with calcium-binding (cb) epidermal growth factor-like (EGF) domains. Five mutations are missense involving exons 12, 27, 30, 44, and 52 with the resultant substitution of cysteine by phenylalanine (C50... | [
{
"begin_idx": "65",
"end_idx": "80",
"entity_id": "D008382",
"entity_type": "Disease",
"text_name": "Marfan syndrome"
},
{
"begin_idx": "153",
"end_idx": "168",
"entity_id": "D008382",
"entity_type": "Disease",
"text_name": "Marfan syndrome"
},
{
"begin_idx": "26... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "26",
"end_idx": "30",
"entity_id": "2200",
"entity_type": "Gene",
"text_name": "FBN1"
}
] | [
{
"begin_idx": "65",
"end_idx": "80",
"entity_id": "D008382",
"entity_type": "Disease",
"text_name": "Marfan syndrome"
}
] | [
"FBN1"
] | [
"Marfan syndrome"
] |
10428046 | Induction of the manganese superoxide dismutase gene by sphingomyelinase and ceramide. | The present study reports the effect of ceramide generated by hydrolysis of membrane sphingomyelin with bacterial sphingomyelinase (SMase) and of cell-permeable ceramide analogues on the expression of manganese superoxide dismutase (MnSOD). Incubation of the rat primary astrocytes with SMase led to a time- and dose-de... | [
{
"begin_idx": "1190",
"end_idx": "1204",
"entity_id": "D055577",
"entity_type": "Disease",
"text_name": "Farber disease"
},
{
"begin_idx": "1276",
"end_idx": "1300",
"entity_id": "D055577",
"entity_type": "Disease",
"text_name": "deficiency of ceramidase"
},
{
"b... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "17",
"end_idx": "47",
"entity_id": "6648",
"entity_type": "Gene",
"text_name": "manganese superoxide dismutase"
}
] | [
{
"begin_idx": "1276",
"end_idx": "1300",
"entity_id": "D055577",
"entity_type": "Disease",
"text_name": "deficiency of ceramidase"
}
] | [
"manganese superoxide dismutase"
] | [
"deficiency of ceramidase"
] |
10431237 | The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. | Tangier disease (TD) is an autosomal recessive disorder of lipid metabolism. It is characterized by absence of plasma high-density lipoprotein (HDL) and deposition of cholesteryl esters in the reticulo-endothelial system with splenomegaly and enlargement of tonsils and lymph nodes. Although low HDL cholesterol is asso... | [
{
"begin_idx": "1497",
"end_idx": "1519",
"entity_id": "D002318",
"entity_type": "Disease",
"text_name": "cardiovascular disease"
},
{
"begin_idx": "437",
"end_idx": "460",
"entity_id": "D003324",
"entity_type": "Disease",
"text_name": "coronary artery disease"
},
{
... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "1050",
"end_idx": "1054",
"entity_id": "19",
"entity_type": "Gene",
"text_name": "ABC1"
},
{
"begin_idx": "1050",
"end_idx": "1054",
"entity_id": "19",
"entity_type": "Gene",
"text_name": "ABC1"
}
] | [
{
"begin_idx": "67",
"end_idx": "82",
"entity_id": "D013631",
"entity_type": "Disease",
"text_name": "Tangier disease"
},
{
"begin_idx": "111",
"end_idx": "159",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "autosomal recessive disorder of lipid metaboli... | [
"ABC1",
"ABC1"
] | [
"Tangier disease",
"autosomal recessive disorder of lipid metabolism"
] |
10433912 | Dlx5 regulates regional development of the branchial arches and sensory capsules. | We report the generation and analysis of mice homozygous for a targeted deletion of the Dlx5 homeobox gene. Dlx5 mutant mice have multiple defects in craniofacial structures, including their ears, noses, mandibles and calvaria, and die shortly after birth. A subset (28%) exhibit exencephaly. Ectodermal expression of D... | [
{
"begin_idx": "1173",
"end_idx": "1186",
"entity_id": "D000014",
"entity_type": "Disease",
"text_name": "malformations"
},
{
"begin_idx": "43",
"end_idx": "59",
"entity_id": "D006053",
"entity_type": "Disease",
"text_name": "branchial arches"
},
{
"begin_idx": "1... | [
"Yes",
"No"
] | [
false,
true
] | [
{
"begin_idx": "0",
"end_idx": "4",
"entity_id": "1749",
"entity_type": "Gene",
"text_name": "Dlx5"
},
{
"begin_idx": "1375",
"end_idx": "1379",
"entity_id": "1746",
"entity_type": "Gene",
"text_name": "Dlx2"
}
] | [
{
"begin_idx": "232",
"end_idx": "255",
"entity_id": "D019465",
"entity_type": "Disease",
"text_name": "craniofacial structures"
},
{
"begin_idx": "43",
"end_idx": "59",
"entity_id": "D006053",
"entity_type": "Disease",
"text_name": "branchial arches"
}
] | [
"Dlx5",
"Dlx2"
] | [
"craniofacial structures",
"branchial arches"
] |
10436404 | Association between vitamin D receptor gene polymorphism and nephrolithiasis. | AIMS: To study the distribution of vitamin D receptor (VDR) gene alleles in hypercalciuric and nonhypercalciuric nephrolithiasis patients, hypothesizing that distinct biochemical parameters would be associated with different VDR genotypes. METHODS: 12 hypercalciuric, 15 normocalciuric nephrolithiasis patients, and 150... | [
{
"begin_idx": "154",
"end_idx": "168",
"entity_id": "C562793",
"entity_type": "Disease",
"text_name": "hypercalciuric"
},
{
"begin_idx": "330",
"end_idx": "344",
"entity_id": "C562793",
"entity_type": "Disease",
"text_name": "hypercalciuric"
},
{
"begin_idx": "63... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "20",
"end_idx": "38",
"entity_id": "7421",
"entity_type": "Gene",
"text_name": "vitamin D receptor"
},
{
"begin_idx": "561",
"end_idx": "564",
"entity_id": "7421",
"entity_type": "Gene",
"text_name": "VDR"
}
] | [
{
"begin_idx": "61",
"end_idx": "76",
"entity_id": "D053040",
"entity_type": "Disease",
"text_name": "nephrolithiasis"
},
{
"begin_idx": "1179",
"end_idx": "1193",
"entity_id": "C562793",
"entity_type": "Disease",
"text_name": "hypercalciuric"
}
] | [
"vitamin D receptor",
"VDR"
] | [
"nephrolithiasis",
"hypercalciuric"
] |
10441340 | Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. | Subcortical band heterotopia (SBH) are bilateral and symmetric ribbons of gray matter found in the central white matter between the cortex and the ventricular surface, which comprises the less severe end of the lissencephaly (agyria-pachygyria-band) spectrum of malformations. Mutations in DCX (also known as XLIS ) hav... | [
{
"begin_idx": "373",
"end_idx": "386",
"entity_id": "D000014",
"entity_type": "Disease",
"text_name": "malformations"
},
{
"begin_idx": "1107",
"end_idx": "1126",
"entity_id": "D001927",
"entity_type": "Disease",
"text_name": "brain malformations"
},
{
"begin_idx... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "105",
"end_idx": "109",
"entity_id": "5048",
"entity_type": "Gene",
"text_name": "LIS1"
},
{
"begin_idx": "96",
"end_idx": "100",
"entity_id": "1641",
"entity_type": "Gene",
"text_name": "XLIS"
}
] | [
{
"begin_idx": "0",
"end_idx": "28",
"entity_id": "D054221",
"entity_type": "Disease",
"text_name": "Subcortical band heterotopia"
},
{
"begin_idx": "420",
"end_idx": "424",
"entity_id": "D054221",
"entity_type": "Disease",
"text_name": "XLIS"
}
] | [
"LIS1",
"XLIS"
] | [
"Subcortical band heterotopia",
"XLIS"
] |
10441342 | Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. | Greig cephalopolysyndactyly syndrome, characterized by craniofacial and limb anomalies (GCPS; MIM 175700), previously has been demonstrated to be associated with translocations as well as point mutations affecting one allele of the zinc finger gene GLI3. In addition to GCPS, Pallister-Hall syndrome (PHS; MIM 146510) a... | [
{
"begin_idx": "47",
"end_idx": "83",
"entity_id": "C537300",
"entity_type": "Disease",
"text_name": "Greig cephalopolysyndactyly syndrome"
},
{
"begin_idx": "85",
"end_idx": "121",
"entity_id": "C537300",
"entity_type": "Disease",
"text_name": "Greig cephalopolysyndactyl... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "31",
"end_idx": "35",
"entity_id": "2737",
"entity_type": "Gene",
"text_name": "GLI3"
},
{
"begin_idx": "1419",
"end_idx": "1423",
"entity_id": "855828",
"entity_type": "Gene",
"text_name": "GAL4"
}
] | [
{
"begin_idx": "47",
"end_idx": "83",
"entity_id": "C537300",
"entity_type": "Disease",
"text_name": "Greig cephalopolysyndactyly syndrome"
},
{
"begin_idx": "1694",
"end_idx": "1698",
"entity_id": "C537300",
"entity_type": "Disease",
"text_name": "GCPS"
}
] | [
"GLI3",
"GAL4"
] | [
"Greig cephalopolysyndactyly syndrome",
"GCPS"
] |
10441482 | CYP2A6 gene deletion reduces susceptibility to lung cancer. | CYP2A6 is an enzyme with a high ability to activate a nitrosamine, 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK), to its potent and ultimate carcinogen. In the present study, we investigated the relationship between genetic polymorphism of CYP2A6 and lung cancer risk in a case-control study of Japanese subjects... | [
{
"begin_idx": "47",
"end_idx": "58",
"entity_id": "D008175",
"entity_type": "Disease",
"text_name": "lung cancer"
},
{
"begin_idx": "318",
"end_idx": "329",
"entity_id": "D008175",
"entity_type": "Disease",
"text_name": "lung cancer"
},
{
"begin_idx": "442",
... | [
"Yes"
] | [
true
] | [
{
"begin_idx": "0",
"end_idx": "6",
"entity_id": "1548",
"entity_type": "Gene",
"text_name": "CYP2A6"
}
] | [
{
"begin_idx": "1118",
"end_idx": "1137",
"entity_id": "D008175",
"entity_type": "Disease",
"text_name": "reduces lung cancer"
}
] | [
"CYP2A6"
] | [
"reduces lung cancer"
] |
10441570 | The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. | Functional characterization of a gene often requires the discovery of the full spectrum of its associated phenotypes. Mutations in the human GLI3 gene have been identified in Greig cepalopolysyndactyly, Pallister-Hall syndrome (PHS), and postaxial polydactyly type-A (PAP-A). We studied the involvement of GLI3 in addit... | [
{
"begin_idx": "107",
"end_idx": "135",
"entity_id": "C562429",
"entity_type": "Disease",
"text_name": "postaxial polydactyly type-A"
},
{
"begin_idx": "438",
"end_idx": "466",
"entity_id": "C562429",
"entity_type": "Disease",
"text_name": "postaxial polydactyly type-A"
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "682",
"end_idx": "689",
"entity_id": "2737",
"entity_type": "Gene",
"text_name": "PAP-A/B"
},
{
"begin_idx": "184",
"end_idx": "188",
"entity_id": "2737",
"entity_type": "Gene",
"text_name": "GLI3"
}
] | [
{
"begin_idx": "107",
"end_idx": "135",
"entity_id": "C562429",
"entity_type": "Disease",
"text_name": "postaxial polydactyly type-A"
},
{
"begin_idx": "750",
"end_idx": "753",
"entity_id": "D054975",
"entity_type": "Disease",
"text_name": "PHS"
}
] | [
"PAP-A/B",
"GLI3"
] | [
"postaxial polydactyly type-A",
"PHS"
] |
10441571 | Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. | The PAX6 gene is involved in ocular morphogenesis, and PAX6 mutations have been detected in various types of ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataract, and foveal hypoplasia. The gene encodes a transcriptional regulator that recognizes target genes through its paired-... | [
{
"begin_idx": "293",
"end_idx": "310",
"entity_id": "C537858",
"entity_type": "Disease",
"text_name": "foveal hypoplasia"
},
{
"begin_idx": "1113",
"end_idx": "1130",
"entity_id": "C537858",
"entity_type": "Disease",
"text_name": "foveal hypoplasia"
},
{
"begin_i... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "58",
"end_idx": "62",
"entity_id": "5080",
"entity_type": "Gene",
"text_name": "PAX6"
},
{
"begin_idx": "141",
"end_idx": "145",
"entity_id": "5080",
"entity_type": "Gene",
"text_name": "PAX6"
}
] | [
{
"begin_idx": "233",
"end_idx": "247",
"entity_id": "C537884",
"entity_type": "Disease",
"text_name": "Peters anomaly"
},
{
"begin_idx": "293",
"end_idx": "310",
"entity_id": "C537858",
"entity_type": "Disease",
"text_name": "foveal hypoplasia"
}
] | [
"PAX6",
"PAX6"
] | [
"Peters anomaly",
"foveal hypoplasia"
] |
10441575 | EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas. | Osteochondromas occur as sporadic solitary lesions or as multiple lesions, characterizing the hereditary multiple exostoses syndrome (EXT). Approximately 15% of all chondrosarcomas arise within the cartilaginous cap of an osteochondroma. EXT is genetically heterogeneous, and two genes, EXT1 and EXT2, located on 8q24 a... | [
{
"begin_idx": "1138",
"end_idx": "1148",
"entity_id": "D000782",
"entity_type": "Disease",
"text_name": "aneuploidy"
},
{
"begin_idx": "536",
"end_idx": "558",
"entity_id": "D002658",
"entity_type": "Disease",
"text_name": "developmental disorder"
},
{
"begin_idx... | [
"Yes",
"Yes",
"No",
"No"
] | [
true,
false,
false,
false
] | [
{
"begin_idx": "410",
"end_idx": "414",
"entity_id": "2131",
"entity_type": "Gene",
"text_name": "EXT1"
},
{
"begin_idx": "410",
"end_idx": "414",
"entity_id": "2131",
"entity_type": "Gene",
"text_name": "EXT1"
},
{
"begin_idx": "1240",
"end_idx": "1244",
... | [
{
"begin_idx": "217",
"end_idx": "255",
"entity_id": "D005097",
"entity_type": "Disease",
"text_name": "hereditary multiple exostoses syndrome"
},
{
"begin_idx": "96",
"end_idx": "121",
"entity_id": "D002813",
"entity_type": "Disease",
"text_name": "secondary chondrosarco... | [
"EXT1",
"EXT1",
"EXT1",
"EXT1"
] | [
"hereditary multiple exostoses syndrome",
"secondary chondrosarcomas",
"EXT",
"EXT"
] |
10443546 | Effects of pilocarpine- and kainate-induced seizures on thyrotropin-releasing hormone biosynthesis and receptors in the rat brain. | The expression of mRNA coding for prepro-thyrotropin releasing hormone (preproTRH) was estimated in the rat brain in two animal models of limbic seizures, evoked by systemic administration of pilocarpine (400 mg/kg ip) or kainate (12 mg/kg ip). As shown by an in situ hybridization study, after 24h both pilocarpine- an... | [
{
"begin_idx": "1883",
"end_idx": "1898",
"entity_id": "D004827",
"entity_type": "Disease",
"text_name": "limbic epilepsy"
},
{
"begin_idx": "44",
"end_idx": "52",
"entity_id": "D012640",
"entity_type": "Disease",
"text_name": "seizures"
},
{
"begin_idx": "276",
... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "56",
"end_idx": "85",
"entity_id": "7200",
"entity_type": "Gene",
"text_name": "thyrotropin-releasing hormone"
},
{
"begin_idx": "56",
"end_idx": "85",
"entity_id": "7200",
"entity_type": "Gene",
"text_name": "thyrotropin-releasing hormone"
}
] | [
{
"begin_idx": "44",
"end_idx": "52",
"entity_id": "D012640",
"entity_type": "Disease",
"text_name": "seizures"
},
{
"begin_idx": "1883",
"end_idx": "1898",
"entity_id": "D004827",
"entity_type": "Disease",
"text_name": "limbic epilepsy"
}
] | [
"thyrotropin-releasing hormone",
"thyrotropin-releasing hormone"
] | [
"seizures",
"limbic epilepsy"
] |
10443650 | Progressive decline in insulin levels in Rabson-Mendenhall syndrome. | Mutations in the insulin receptor gene cause the severe insulin-resistant syndromes leprechaunism and Rabson-Mendenhall syndrome, whose metabolic features include fasting hypoglycemia, post-prandial hyperglycemia, and extremely elevated insulin levels. Patients with Rabson-Mendenhall syndrome have a protracted course ... | [
{
"begin_idx": "1026",
"end_idx": "1034",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
},
{
"begin_idx": "268",
"end_idx": "281",
"entity_id": "D006943",
"entity_type": "Disease",
"text_name": "hyperglycemia"
},
{
"begin_idx": "809",
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "86",
"end_idx": "102",
"entity_id": "3643",
"entity_type": "Gene",
"text_name": "insulin receptor"
},
{
"begin_idx": "1974",
"end_idx": "1981",
"entity_id": "3630",
"entity_type": "Gene",
"text_name": "insulin"
}
] | [
{
"begin_idx": "41",
"end_idx": "67",
"entity_id": "D056731",
"entity_type": "Disease",
"text_name": "Rabson-Mendenhall syndrome"
},
{
"begin_idx": "572",
"end_idx": "598",
"entity_id": "D056731",
"entity_type": "Disease",
"text_name": "Rabson-Mendenhall syndrome"
}
] | [
"insulin receptor",
"insulin"
] | [
"Rabson-Mendenhall syndrome",
"Rabson-Mendenhall syndrome"
] |
10443997 | Association between drinking-related antisocial behavior and a polymorphism in the serotonin transporter gene in a Japanese population. | BACKGROUND: Involvement of the serotoninergic system (S/S) in alcoholism has been suggested in both mice and humans. Previous studies have suggested the S/S genotype of the serotonin transporter gene promoter polymorphism to be associated with severe alcohol dependence marked by severe withdrawal symptoms. It has also... | [
{
"begin_idx": "198",
"end_idx": "208",
"entity_id": "D000437",
"entity_type": "Disease",
"text_name": "alcoholism"
},
{
"begin_idx": "387",
"end_idx": "405",
"entity_id": "D000437",
"entity_type": "Disease",
"text_name": "alcohol dependence"
},
{
"begin_idx": "11... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "83",
"end_idx": "104",
"entity_id": "6532",
"entity_type": "Gene",
"text_name": "serotonin transporter"
},
{
"begin_idx": "309",
"end_idx": "330",
"entity_id": "6532",
"entity_type": "Gene",
"text_name": "serotonin transporter"
}
] | [
{
"begin_idx": "387",
"end_idx": "405",
"entity_id": "D000437",
"entity_type": "Disease",
"text_name": "alcohol dependence"
},
{
"begin_idx": "1352",
"end_idx": "1372",
"entity_id": "D001523",
"entity_type": "Disease",
"text_name": "antisocial behaviors"
}
] | [
"serotonin transporter",
"serotonin transporter"
] | [
"alcohol dependence",
"antisocial behaviors"
] |
10445756 | Role of CYP1A2 in the toxicity of long-term phenacetin feeding in mice. | The mechanisms underlying phenacetin-induced toxicity and carcinogenicity are not clear. In particular, it is not known whether these effects are mediated by metabolic activation of the drug. CYP1A2 is known to metabolize phenacetin in vitro. To determine the role of this enzyme in vivo, the toxicity and carcinogenici... | [
{
"begin_idx": "1155",
"end_idx": "1167",
"entity_id": "D006529",
"entity_type": "Disease",
"text_name": "Hepatomegaly"
},
{
"begin_idx": "1638",
"end_idx": "1653",
"entity_id": "D007680",
"entity_type": "Disease",
"text_name": "renal carcinoma"
},
{
"begin_idx": ... | [
"Yes",
"Yes",
"Yes",
"No",
"No",
"No"
] | [
false,
true,
false,
false,
false,
false
] | [
{
"begin_idx": "8",
"end_idx": "14",
"entity_id": "1544",
"entity_type": "Gene",
"text_name": "CYP1A2"
},
{
"begin_idx": "8",
"end_idx": "14",
"entity_id": "1544",
"entity_type": "Gene",
"text_name": "CYP1A2"
},
{
"begin_idx": "8",
"end_idx": "14",
"entity... | [
{
"begin_idx": "1172",
"end_idx": "1184",
"entity_id": "D013163",
"entity_type": "Disease",
"text_name": "splenomegaly"
},
{
"begin_idx": "22",
"end_idx": "30",
"entity_id": "D064420",
"entity_type": "Disease",
"text_name": "toxicity"
},
{
"begin_idx": "1155",
... | [
"CYP1A2",
"CYP1A2",
"CYP1A2",
"CYP1A2",
"CYP1A2",
"Cyp1a2"
] | [
"splenomegaly",
"toxicity",
"Hepatomegaly",
"renal carcinoma",
"renal carcinoma",
"renal carcinoma"
] |
10446171 | Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. | In humans, mutations in SOX9 result in a skeletal malformation syndrome, campomelic dysplasia (CD). The present study investigated two major classes of CD mutations: 1) point mutations in the high mobility group (HMG) domain and 2) truncations and frameshifts that alter the C terminus of the protein. We analyzed the e... | [
{
"begin_idx": "137",
"end_idx": "167",
"entity_id": "D000014",
"entity_type": "Disease",
"text_name": "skeletal malformation syndrome"
},
{
"begin_idx": "74",
"end_idx": "94",
"entity_id": "D055036",
"entity_type": "Disease",
"text_name": "campomelic dysplasia"
},
{
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "47",
"end_idx": "51",
"entity_id": "6662",
"entity_type": "Gene",
"text_name": "SOX9"
},
{
"begin_idx": "1411",
"end_idx": "1415",
"entity_id": "6662",
"entity_type": "Gene",
"text_name": "SOX9"
}
] | [
{
"begin_idx": "74",
"end_idx": "94",
"entity_id": "D055036",
"entity_type": "Disease",
"text_name": "campomelic dysplasia"
},
{
"begin_idx": "137",
"end_idx": "167",
"entity_id": "D000014",
"entity_type": "Disease",
"text_name": "skeletal malformation syndrome"
}
] | [
"SOX9",
"SOX9"
] | [
"campomelic dysplasia",
"skeletal malformation syndrome"
] |
10447258 | Identification of a common PEX1 mutation in Zellweger syndrome. | The Zellweger spectrum of disease, encompassing Zellweger syndrome and the progressively milder phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease, is due to a failure to form functional peroxisomes. Cell fusion complementation studies demonstrated that these diseases are genetically heterogeneou... | [
{
"begin_idx": "174",
"end_idx": "203",
"entity_id": "D000326",
"entity_type": "Disease",
"text_name": "neonatal adrenoleukodystrophy"
},
{
"begin_idx": "44",
"end_idx": "62",
"entity_id": "D015211",
"entity_type": "Disease",
"text_name": "Zellweger syndrome"
},
{
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "27",
"end_idx": "31",
"entity_id": "5189",
"entity_type": "Gene",
"text_name": "PEX1"
},
{
"begin_idx": "1370",
"end_idx": "1373",
"entity_id": "3895",
"entity_type": "Gene",
"text_name": "CG1"
}
] | [
{
"begin_idx": "68",
"end_idx": "97",
"entity_id": "D015211",
"entity_type": "Disease",
"text_name": "Zellweger spectrum of disease"
},
{
"begin_idx": "112",
"end_idx": "130",
"entity_id": "D015211",
"entity_type": "Disease",
"text_name": "Zellweger syndrome"
}
] | [
"PEX1",
"CG1"
] | [
"Zellweger spectrum of disease",
"Zellweger syndrome"
] |
10447259 | Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes. | Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immunodeficiency characterized by thrombocytopenia, eczema, and recurrent infections, and caused by mutations in the WAS protein (WASP) gene. WASP contains several functional domains through which it interacts with proteins involved in intracellular signaling and... | [
{
"begin_idx": "1589",
"end_idx": "1592",
"entity_id": "C564052",
"entity_type": "Disease",
"text_name": "XLT"
},
{
"begin_idx": "247",
"end_idx": "253",
"entity_id": "D004485",
"entity_type": "Disease",
"text_name": "eczema"
},
{
"begin_idx": "229",
"end_idx"... | [
"Yes",
"Yes",
"No",
"No"
] | [
true,
true,
true,
true
] | [
{
"begin_idx": "23",
"end_idx": "47",
"entity_id": "7454",
"entity_type": "Gene",
"text_name": "Wiskott-Aldrich syndrome"
},
{
"begin_idx": "23",
"end_idx": "47",
"entity_id": "7454",
"entity_type": "Gene",
"text_name": "Wiskott-Aldrich syndrome"
},
{
"begin_idx":... | [
{
"begin_idx": "23",
"end_idx": "47",
"entity_id": "D014923",
"entity_type": "Disease",
"text_name": "Wiskott-Aldrich syndrome"
},
{
"begin_idx": "1589",
"end_idx": "1592",
"entity_id": "C564052",
"entity_type": "Disease",
"text_name": "XLT"
},
{
"begin_idx": "229... | [
"Wiskott-Aldrich syndrome",
"Wiskott-Aldrich syndrome",
"WASP",
"Wiskott-Aldrich syndrome"
] | [
"Wiskott-Aldrich syndrome",
"XLT",
"thrombocytopenia",
"X-linked recessive immunodeficiency"
] |
10447263 | Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia. Mutation in brief no. 248. Online. | We used the denaturing gradient gel electrophoresis (DGGE) method to investigate 120 Japanese patients with familial hypercholesterolemia (FH) for mutations in the promoter region and the 18 exons and their flanking intron sequence of the low density lipoprotein (LDL) receptor gene. Fourteen aberrant DGGE patterns wer... | [
{
"begin_idx": "1066",
"end_idx": "1086",
"entity_id": "D006937",
"entity_type": "Disease",
"text_name": "hypercholesterolemia"
},
{
"begin_idx": "85",
"end_idx": "114",
"entity_id": "D006938",
"entity_type": "Disease",
"text_name": "familial hypercholesterolemia"
},
... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "390",
"end_idx": "428",
"entity_id": "3949",
"entity_type": "Gene",
"text_name": "low density lipoprotein (LDL) receptor"
},
{
"begin_idx": "1125",
"end_idx": "1127",
"entity_id": "3949",
"entity_type": "Gene",
"text_name": "FH"
}
] | [
{
"begin_idx": "85",
"end_idx": "114",
"entity_id": "D006938",
"entity_type": "Disease",
"text_name": "familial hypercholesterolemia"
},
{
"begin_idx": "1066",
"end_idx": "1086",
"entity_id": "D006937",
"entity_type": "Disease",
"text_name": "hypercholesterolemia"
}
] | [
"low density lipoprotein (LDL) receptor",
"FH"
] | [
"familial hypercholesterolemia",
"hypercholesterolemia"
] |
10447264 | Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterisation of 6 novel mutations. Mutation in brief no. 249. Online. | Hunter syndrome is a rare, X-linked, recessively inherited disease affecting approximately 1 in 132,000 males. The disease is caused by the inability to degrade dermatan sulphate and heparan sulphate due to mutations in the iduronate-2-sulphatase gene (IDS). The mutations causing the disorder are heterogeneous, rangin... | [
{
"begin_idx": "69",
"end_idx": "84",
"entity_id": "D016532",
"entity_type": "Disease",
"text_name": "Hunter syndrome"
},
{
"begin_idx": "160",
"end_idx": "175",
"entity_id": "D016532",
"entity_type": "Disease",
"text_name": "Hunter syndrome"
},
{
"begin_idx": "59... | [
"Yes",
"No"
] | [
false,
false
] | [
{
"begin_idx": "413",
"end_idx": "416",
"entity_id": "3423",
"entity_type": "Gene",
"text_name": "IDS"
},
{
"begin_idx": "413",
"end_idx": "416",
"entity_id": "3423",
"entity_type": "Gene",
"text_name": "IDS"
}
] | [
{
"begin_idx": "69",
"end_idx": "84",
"entity_id": "D016532",
"entity_type": "Disease",
"text_name": "Hunter syndrome"
},
{
"begin_idx": "209",
"end_idx": "226",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "inherited disease"
}
] | [
"IDS",
"IDS"
] | [
"Hunter syndrome",
"inherited disease"
] |
10447266 | Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients. Mutation in brief no. 251. Online. | To study glucocerebrosidase mutations causing Gaucher disease, we have screened 30 apparently unrelated patients for the presence of 7 previous described mutations. N370S (1226A>G) was the most common mutation (43%), followed by L444P (1448T>C) (23%). To identify the other unknown mutations, we screened regions of the... | [
{
"begin_idx": "124",
"end_idx": "139",
"entity_id": "D005776",
"entity_type": "Disease",
"text_name": "Gaucher disease"
},
{
"begin_idx": "231",
"end_idx": "246",
"entity_id": "D005776",
"entity_type": "Disease",
"text_name": "Gaucher disease"
},
{
"begin_idx": "... | [
"Yes"
] | [
false
] | [
{
"begin_idx": "530",
"end_idx": "533",
"entity_id": "2629",
"entity_type": "Gene",
"text_name": "GBA"
}
] | [
{
"begin_idx": "124",
"end_idx": "139",
"entity_id": "D005776",
"entity_type": "Disease",
"text_name": "Gaucher disease"
}
] | [
"GBA"
] | [
"Gaucher disease"
] |
10447268 | Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online. | Propionyl-CoA carboxylase (PCC) is a biotin-dependent enzyme located in the mitochondrial matrix. Mutations in the PCCA and PCCB genes, which encode the a and b subunits of this heteropolymer, result in propionic acidemia (PA). We report the molecular analysis of b-deficient patients from Spain and Austria. Subjects w... | [
{
"begin_idx": "391",
"end_idx": "402",
"entity_id": "C535600",
"entity_type": "Disease",
"text_name": "b-deficient"
},
{
"begin_idx": "63",
"end_idx": "81",
"entity_id": "D056693",
"entity_type": "Disease",
"text_name": "propionic acidemia"
},
{
"begin_idx": "330... | [
"Yes",
"No"
] | [
true,
true
] | [
{
"begin_idx": "41",
"end_idx": "45",
"entity_id": "5096",
"entity_type": "Gene",
"text_name": "PCCB"
},
{
"begin_idx": "242",
"end_idx": "246",
"entity_id": "5095",
"entity_type": "Gene",
"text_name": "PCCA"
}
] | [
{
"begin_idx": "63",
"end_idx": "81",
"entity_id": "D056693",
"entity_type": "Disease",
"text_name": "propionic acidemia"
},
{
"begin_idx": "63",
"end_idx": "81",
"entity_id": "D056693",
"entity_type": "Disease",
"text_name": "propionic acidemia"
}
] | [
"PCCB",
"PCCA"
] | [
"propionic acidemia",
"propionic acidemia"
] |
10447527 | A paired-sibling analysis of the XbaI polymorphism in the muscle glycogen synthase gene. | AIMS/HYPOTHESIS: We have previously shown an association between a XbaI polymorphism in the muscle glycogen synthase gene (GYS1) and both Type II (non-insulin-dependent) diabetes mellitus and hypertension. Association studies are, however, hampered by the selection of the control group. To circumvent these problems we... | [
{
"begin_idx": "1121",
"end_idx": "1132",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "Diabetic A2"
},
{
"begin_idx": "1271",
"end_idx": "1279",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
},
{
"begin_idx": "1297",
... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "212",
"end_idx": "216",
"entity_id": "2997",
"entity_type": "Gene",
"text_name": "GYS1"
},
{
"begin_idx": "1776",
"end_idx": "1780",
"entity_id": "2997",
"entity_type": "Gene",
"text_name": "GYS1"
}
] | [
{
"begin_idx": "227",
"end_idx": "276",
"entity_id": "D003924",
"entity_type": "Disease",
"text_name": "Type II (non-insulin-dependent) diabetes mellitus"
},
{
"begin_idx": "848",
"end_idx": "855",
"entity_id": "D009765",
"entity_type": "Disease",
"text_name": "obesity"
... | [
"GYS1",
"GYS1"
] | [
"Type II (non-insulin-dependent) diabetes mellitus",
"obesity"
] |
10447650 | Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene. | BACKGROUND: Leber's hereditary optic neuropathy (LHON) is a maternally inherited ocular disease associated with mutations in the mitochondrial DNA (mtDNA). We describe the clinical and molecular genetic findings in a LHON patient and his family with a new mtDNA mutation at np14568 in the ND6 gene. METHODS: Ophthalmolo... | [
{
"begin_idx": "208",
"end_idx": "222",
"entity_id": "D005128",
"entity_type": "Disease",
"text_name": "ocular disease"
},
{
"begin_idx": "831",
"end_idx": "860",
"entity_id": "D014652",
"entity_type": "Disease",
"text_name": "peripapillary microangiopathy"
},
{
"... | [
"Yes",
"No"
] | [
true,
false
] | [
{
"begin_idx": "117",
"end_idx": "120",
"entity_id": "4541",
"entity_type": "Gene",
"text_name": "ND6"
},
{
"begin_idx": "416",
"end_idx": "419",
"entity_id": "4541",
"entity_type": "Gene",
"text_name": "ND6"
}
] | [
{
"begin_idx": "0",
"end_idx": "35",
"entity_id": "D029242",
"entity_type": "Disease",
"text_name": "Leber's hereditary optic neuropathy"
},
{
"begin_idx": "208",
"end_idx": "222",
"entity_id": "D005128",
"entity_type": "Disease",
"text_name": "ocular disease"
}
] | [
"ND6",
"ND6"
] | [
"Leber's hereditary optic neuropathy",
"ocular disease"
] |
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