id stringlengths 1 3 | document_id stringlengths 7 8 | passages list | entities list | events list | coreferences list | relations list |
|---|---|---|---|---|---|---|
0 | 10841811 | [
{
"id": "10841811__text",
"type": "abstract",
"text": [
"Segregation analysis of esophageal cancer in a moderately high-incidence area of northern China. In order to explore the mode of inheritance of esophageal cancer in a moderately high-incidence area of northern China, we conducted a pedigree ... | [] | [] | [] | [] |
1 | 10775524 | [
{
"id": "10775524__text",
"type": "abstract",
"text": [
"Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes. Rearrangements of the acrocentric chromosomes (Robertsonian translocations and isochromosomes) are associated with an increa... | [] | [] | [] | [] |
2 | 10712193 | [
{
"id": "10712193__text",
"type": "abstract",
"text": [
"James V. Neel, M.D., Ph.D. (March 22, 1915-January 31, 2000): founder effect.\n"
],
"offsets": [
[
0,
78
]
]
}
] | [] | [] | [] | [] |
3 | 10712209 | [
{
"id": "10712209__text",
"type": "abstract",
"text": [
"Combined analysis of hereditary prostate cancer linkage to 1q24-25: results from 772 hereditary prostate cancer families from the International Consortium for Prostate Cancer Genetics. A previous linkage study provided evidence for a prostat... | [
{
"id": "10712209_T1",
"type": "Gene",
"text": [
"HPC1"
],
"offsets": [
[
2146,
2150
]
],
"normalized": []
}
] | [] | [] | [] |
4 | 10739770 | [
{
"id": "10739770__text",
"type": "abstract",
"text": [
"The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1. The May-Hegglin anomaly (MHA) is an autosomal dominant platelet disorder of unknown etiology. It is characterized by thrombocytopenia, giant platelets, ... | [
{
"id": "10739770_T1",
"type": "Gene",
"text": [
"MHA"
],
"offsets": [
[
342,
345
]
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"normalized": []
},
{
"id": "10739770_T2",
"type": "Gene",
"text": [
"MHA"
],
"offsets": [
[
551,
554
]
]... | [] | [] | [] |
5 | 10915611 | [
{
"id": "10915611__text",
"type": "abstract",
"text": [
"Rare etiology of autosomal recessive disease in a child with noncarrier parents. A child with maple syrup urine disease type 2 (MSUD2) was found to be homozygous for a 10-bp MSUD2-gene deletion on chromosome 1. Both purported parents were te... | [
{
"id": "10915611_T1",
"type": "Gene",
"text": [
"MSUD2"
],
"offsets": [
[
174,
179
]
],
"normalized": []
},
{
"id": "10915611_T2",
"type": "Gene",
"text": [
"MSUD2"
],
"offsets": [
[
771,
776
]
... | [] | [] | [] |
6 | 10712225 | [
{
"id": "10712225__text",
"type": "abstract",
"text": [
"A recurrent expansion of a maternal allele with 36 CAG repeats causes Huntington disease in two sisters. Large intergenerational repeat expansions of the CAG trinucleotide repeat in the HD gene have been well documented for the male germline... | [
{
"id": "10712225_T1",
"type": "Gene",
"text": [
"HD"
],
"offsets": [
[
186,
188
]
],
"normalized": []
}
] | [] | [] | [] |
7 | 10712212 | [
{
"id": "10712212__text",
"type": "abstract",
"text": [
"The distribution of human genetic diversity: a comparison of mitochondrial, autosomal, and Y-chromosome data. We report a comparison of worldwide genetic variation among 255 individuals by using autosomal, mitochondrial, and Y-chromosome pol... | [] | [] | [] | [] |
8 | 10677305 | [
{
"id": "10677305__text",
"type": "abstract",
"text": [
"A new locus for autosomal recessive hypercholesterolemia maps to human chromosome 15q25-q26. High serum cholesterol is an established risk factor for cardiovascular disease and is the prime target for therapeutic intervention in large groups... | [
{
"id": "10677305_T1",
"type": "Gene",
"text": [
"APOB"
],
"offsets": [
[
478,
482
]
],
"normalized": []
},
{
"id": "10677305_T2",
"type": "Gene",
"text": [
"ARH1"
],
"offsets": [
[
866,
870
]
... | [] | [] | [] |
9 | 10884361 | [
{
"id": "10884361__text",
"type": "abstract",
"text": [
"Statistical approaches to gene mapping.\n"
],
"offsets": [
[
0,
40
]
]
}
] | [] | [] | [] | [] |
10 | 10677321 | [
{
"id": "10677321__text",
"type": "abstract",
"text": [
"A coalescent approach to study linkage disequilibrium between single-nucleotide polymorphisms. We present the results of extensive simulations that emulate the development and distribution of linkage disequilibrium (LD) between single-nucleo... | [] | [] | [] | [] |
11 | 10677322 | [
{
"id": "10677322__text",
"type": "abstract",
"text": [
"Estimation of variance components of quantitative traits in inbred populations. Use of variance-component estimation for mapping of quantitative-trait loci in humans is a subject of great current interest. When only trait values, not genotyp... | [
{
"id": "10677322_T1",
"type": "Gene",
"text": [
"HDL"
],
"offsets": [
[
1072,
1075
]
],
"normalized": []
}
] | [] | [] | [] |
12 | 10739764 | [
{
"id": "10739764__text",
"type": "abstract",
"text": [
"Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Emery-Dreifuss muscular dystrophy (EMD) is a condition characterized by the clinical triad of early-onset contractures, ... | [
{
"id": "10739764_T1",
"type": "Gene",
"text": [
"LMNA"
],
"offsets": [
[
27,
31
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],
"normalized": []
},
{
"id": "10739764_T2",
"type": "Gene",
"text": [
"LMNA,"
],
"offsets": [
[
605,
610
]
... | [] | [] | [] |
13 | 10775530 | [
{
"id": "10775530__text",
"type": "abstract",
"text": [
"Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy. We report an unusual molecular defect in the mitochondrially encoded ND1 subunit of NADH ubiquinone oxidoreductase (complex I) in a pa... | [
{
"id": "10775530_T1",
"type": "Gene",
"text": [
"ND1"
],
"offsets": [
[
371,
374
]
],
"normalized": []
},
{
"id": "10775530_T2",
"type": "Gene",
"text": [
"ND1"
],
"offsets": [
[
176,
179
]
]... | [] | [] | [] |
14 | 11078480 | [
{
"id": "11078480__text",
"type": "abstract",
"text": [
"The extent of linkage disequilibrium in four populations with distinct demographic histories. The design and feasibility of whole-genome-association studies are critically dependent on the extent of linkage disequilibrium (LD) between marker... | [] | [] | [] | [] |
15 | 10631132 | [
{
"id": "10631132__text",
"type": "abstract",
"text": [
"Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Fragile-X syndrome is a trinucleotide-repeat-expansion disorder in which the clinical phenotype is believed to result from transcription... | [
{
"id": "10631132_T1",
"type": "Gene",
"text": [
"FMR1"
],
"offsets": [
[
19,
23
]
],
"normalized": []
},
{
"id": "10631132_T2",
"type": "Gene",
"text": [
"fragile-X mental retardation 1"
],
"offsets": [
[
261,... | [] | [] | [
{
"id": "10631132_R1",
"type": "Equals",
"arg1_id": "10631132_T2",
"arg2_id": "10631132_T3",
"normalized": []
},
{
"id": "10631132_R2",
"type": "Equals",
"arg1_id": "10631132_T4",
"arg2_id": "10631132_T2",
"normalized": []
},
{
"id": "10631132_R3",
"type": "Eq... |
16 | 11078473 | [
{
"id": "11078473__text",
"type": "abstract",
"text": [
"The peopling of Europe from the maternal and paternal perspectives.\n"
],
"offsets": [
[
0,
68
]
]
}
] | [] | [] | [] | [] |
17 | 11023809 | [
{
"id": "11023809__text",
"type": "abstract",
"text": [
"Major genes regulating total serum immunoglobulin E levels in families with asthma. Immunoglobulin E (IgE) has a major role in the pathogenesis of allergic disorders and asthma. Previous data from 92 families, each identified through a proba... | [
{
"id": "11023809_T1",
"type": "Gene",
"text": [
"IgE"
],
"offsets": [
[
102,
105
]
],
"normalized": []
},
{
"id": "11023809_T2",
"type": "Gene",
"text": [
"Immunoglobulin E"
],
"offsets": [
[
84,
100
... | [] | [] | [
{
"id": "11023809_R1",
"type": "Equals",
"arg1_id": "11023809_T2",
"arg2_id": "11023809_T1",
"normalized": []
}
] |
18 | 10762557 | [
{
"id": "10762557__text",
"type": "abstract",
"text": [
"Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome.\n"
],
"offsets": [
[
0,
106
]
]
}
] | [
{
"id": "10762557_T1",
"type": "Gene",
"text": [
"Complement factor H"
],
"offsets": [
[
0,
19
]
],
"normalized": []
}
] | [] | [] | [] |
19 | 10677310 | [
{
"id": "10677310__text",
"type": "abstract",
"text": [
"Fine localization of a major disease-susceptibility locus for diffuse panbronchiolitis. Diffuse panbronchiolitis affecting East Asians is strongly associated with the class I human leukocyte antigen (HLA) alleles. Recent observations suggest... | [
{
"id": "10677310_T1",
"type": "Gene",
"text": [
"HLA"
],
"offsets": [
[
200,
203
]
],
"normalized": []
},
{
"id": "10677310_T2",
"type": "Gene",
"text": [
"HLA-B"
],
"offsets": [
[
310,
315
]
... | [] | [] | [
{
"id": "10677310_R1",
"type": "Equals",
"arg1_id": "10677310_T4",
"arg2_id": "10677310_T1",
"normalized": []
}
] |
20 | 16826533 | [
{
"id": "16826533__text",
"type": "abstract",
"text": [
"Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. Fuhrmann syndrome and the Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome are considered to ... | [
{
"id": "16826533_T1",
"type": "Gene",
"text": [
"WNT7A"
],
"offsets": [
[
13,
18
]
],
"normalized": []
},
{
"id": "16826533_T2",
"type": "Gene",
"text": [
"dorsoventral-patterning"
],
"offsets": [
[
452,
... | [] | [] | [
{
"id": "16826533_R1",
"type": "Equals",
"arg1_id": "16826533_T2",
"arg2_id": "16826533_T3",
"normalized": []
}
] |
21 | 16358216 | [
{
"id": "16358216__text",
"type": "abstract",
"text": [
"A novel framework for sib pair linkage analysis. Sib pair linkage analysis of a dichotomous trait is a popular method for narrowing the search for genes that influence complex diseases. Although the pedigree structures are uncomplicated and ... | [] | [] | [] | [] |
22 | 16642433 | [
{
"id": "16642433__text",
"type": "abstract",
"text": [
"Polymorphism in maternal LRP8 gene is associated with fetal growth. Fetal growth restriction (FGR) affects >200,000 pregnancies in the United States annually and is associated with increased perinatal mortality and morbidity, as well as poor... | [
{
"id": "16642433_T1",
"type": "Gene",
"text": [
"LRP8"
],
"offsets": [
[
25,
29
]
],
"normalized": []
},
{
"id": "16642433_T2",
"type": "Gene",
"text": [
"LRP8"
],
"offsets": [
[
974,
978
]
]... | [] | [] | [] |
23 | 16358215 | [
{
"id": "16358215__text",
"type": "abstract",
"text": [
"Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. Hypophosphatemia due to isolated renal phosphate wasting results from a heterogeneous group of disorders. Here... | [
{
"id": "16358215_T1",
"type": "Gene",
"text": [
"SLC34A3"
],
"offsets": [
[
122,
129
]
],
"normalized": []
},
{
"id": "16358215_T2",
"type": "Gene",
"text": [
"sodium-phosphate cotransporter"
],
"offsets": [
[
... | [] | [] | [
{
"id": "16358215_R1",
"type": "Equals",
"arg1_id": "16358215_T2",
"arg2_id": "16358215_T1",
"normalized": []
},
{
"id": "16358215_R2",
"type": "Equals",
"arg1_id": "16358215_T5",
"arg2_id": "16358215_T6",
"normalized": []
}
] |
24 | 16642431 | [
{
"id": "16642431__text",
"type": "abstract",
"text": [
"Fine-mapping chromosome 20 in 230 systemic lupus erythematosus sib pair and multiplex families: evidence for genetic epistasis with chromosome 16q12. The presence of systemic lupus erythematosus (SLE) susceptibility genes on chromosome 20 is... | [] | [] | [] | [] |
25 | 16960802 | [
{
"id": "16960802__text",
"type": "abstract",
"text": [
"Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. Mutations in genes encoding either components of the phototransduction cascade or proteins presumably involved in signaling from pho... | [
{
"id": "16960802_T1",
"type": "Gene",
"text": [
"CABP4"
],
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[
13,
18
]
],
"normalized": []
},
{
"id": "16960802_T2",
"type": "Gene",
"text": [
"Ca2+-binding protein 4"
],
"offsets": [
[
42,
... | [] | [] | [
{
"id": "16960802_R1",
"type": "Equals",
"arg1_id": "16960802_T1",
"arg2_id": "16960802_T2",
"normalized": []
},
{
"id": "16960802_R2",
"type": "Equals",
"arg1_id": "16960802_T7",
"arg2_id": "16960802_T8",
"normalized": []
}
] |
26 | 16773577 | [
{
"id": "16773577__text",
"type": "abstract",
"text": [
"Familial osteoarthritis of the hip joint associated with acetabular dysplasia maps to chromosome 13q. Genetic factors have been implicated in osteoarthritis (OA), particularly in OA of the hip joint (hip OA). Several instances of familial hi... | [] | [] | [] | [] |
27 | 16642441 | [
{
"id": "16642441__text",
"type": "abstract",
"text": [
"Association of polymorphisms in the Angiotensin-converting enzyme gene with Alzheimer disease in an Israeli Arab community. Several lines of evidence support for a role of angiotensin converting enzyme (ACE) in Alzheimer disease (AD). Most g... | [
{
"id": "16642441_T1",
"type": "Gene",
"text": [
"Angiotensin-converting enzyme"
],
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[
36,
65
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],
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},
{
"id": "16642441_T2",
"type": "Gene",
"text": [
"angiotensin converting enzyme"
],
"offsets"... | [] | [] | [
{
"id": "16642441_R1",
"type": "Equals",
"arg1_id": "16642441_T2",
"arg2_id": "16642441_T3",
"normalized": []
}
] |
28 | 16909394 | [
{
"id": "16909394__text",
"type": "abstract",
"text": [
"Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Leber congenital amaurosis (LCA) is one of the main causes of childhood blindness. To date, mutations in eight genes have been described, which together... | [
{
"id": "16909394_T1",
"type": "Gene",
"text": [
"CEP290"
],
"offsets": [
[
17,
23
]
],
"normalized": []
},
{
"id": "16909394_T2",
"type": "Gene",
"text": [
"NPHP6"
],
"offsets": [
[
25,
30
]
... | [] | [] | [
{
"id": "16909394_R1",
"type": "Equals",
"arg1_id": "16909394_T1",
"arg2_id": "16909394_T2",
"normalized": []
},
{
"id": "16909394_R2",
"type": "AssociatedTo",
"arg1_id": "16909394_T4",
"arg2_id": "16909394_T5",
"normalized": []
}
] |
29 | 16909392 | [
{
"id": "16909392__text",
"type": "abstract",
"text": [
"Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. Navajo neurohepatopathy (NNH) is an autosomal recessive disease that is prevalent among Navajo children in the southwestern United States. The major clinical features are hep... | [
{
"id": "16909392_T1",
"type": "Gene",
"text": [
"MPV17"
],
"offsets": [
[
55,
60
]
],
"normalized": []
},
{
"id": "16909392_T2",
"type": "Gene",
"text": [
"MPV17"
],
"offsets": [
[
743,
748
]
... | [] | [] | [
{
"id": "16909392_R1",
"type": "AssociatedTo",
"arg1_id": "16909392_T3",
"arg2_id": "16909392_T4",
"normalized": []
}
] |
30 | 16960800 | [
{
"id": "16960800__text",
"type": "abstract",
"text": [
"A genomewide single-nucleotide-polymorphism panel with high ancestry information for African American admixture mapping. Admixture mapping requires a genomewide panel of relatively evenly spaced markers that can distinguish the ancestral ori... | [] | [] | [] | [] |
31 | 16642442 | [
{
"id": "16642442__text",
"type": "abstract",
"text": [
"Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans. The pericentric inv(10)(p11.2q21.2) mutation has been frequently identified in cytogenetic laboratories, ... | [] | [] | [] | [] |
32 | 16532386 | [
{
"id": "16532386__text",
"type": "abstract",
"text": [
"Genome scan for loci predisposing to anxiety disorders using a novel multivariate approach: strong evidence for a chromosome 4 risk locus. We conducted a 10-centimorgan linkage autosomal genome scan in a set of 19 extended American pedigrees... | [
{
"id": "16532386_T1",
"type": "Gene",
"text": [
"neuropeptide Y receptor"
],
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[
1405,
1428
]
],
"normalized": []
},
{
"id": "16532386_T2",
"type": "Gene",
"text": [
"NPY1R"
],
"offsets": [
[
1435,
... | [] | [] | [
{
"id": "16532386_R1",
"type": "Equals",
"arg1_id": "16532386_T1",
"arg2_id": "16532386_T2",
"normalized": []
}
] |
33 | 16532395 | [
{
"id": "16532395__text",
"type": "abstract",
"text": [
"Spread of an inactive form of caspase-12 in humans is due to recent positive selection. The human caspase-12 gene is polymorphic for the presence or absence of a stop codon, which results in the occurrence of both active (ancestral) and inac... | [
{
"id": "16532395_T1",
"type": "Gene",
"text": [
"caspase-12"
],
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[
98,
108
]
],
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},
{
"id": "16532395_T2",
"type": "Gene",
"text": [
"caspase-12"
],
"offsets": [
[
30,
40
... | [] | [] | [] |
34 | 16826523 | [
{
"id": "16826523__text",
"type": "abstract",
"text": [
"Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. Genomic imbalance is a common cause of phenotypic abnormalities. We measured the relative expression level of... | [] | [] | [] | [] |
35 | 17186465 | [
{
"id": "17186465__text",
"type": "abstract",
"text": [
"Exact tests of Hardy-Weinberg equilibrium and homogeneity of disequilibrium across strata. Detecting departures from Hardy-Weinberg equilibrium (HWE) of marker-genotype frequencies is a crucial first step in almost all human genetic analyses... | [] | [] | [] | [] |
36 | 16960803 | [
{
"id": "16960803__text",
"type": "abstract",
"text": [
"Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development. The recent identification of SATB2 as a candidate gene responsible for the craniofacial dysmorphologies... | [
{
"id": "16960803_T1",
"type": "Gene",
"text": [
"Satb2"
],
"offsets": [
[
0,
5
]
],
"normalized": []
},
{
"id": "16960803_T2",
"type": "Gene",
"text": [
"SATB2"
],
"offsets": [
[
167,
172
]
]... | [] | [] | [] |
37 | 16960810 | [
{
"id": "16960810__text",
"type": "abstract",
"text": [
"Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. Systemic lupus erythematosus is a prototypic autoimmune disease. Apart from rare monogenic deficiencies of complement factors, where lupuslik... | [] | [] | [] | [] |
38 | 16909383 | [
{
"id": "16909383__text",
"type": "abstract",
"text": [
"A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene. Stickler syndrome is characterized by ophthalmic, articular, orofacial, and auditory manifestations. It has an autosomal dominant inheritance pat... | [
{
"id": "16909383_T1",
"type": "Gene",
"text": [
"COL9A1"
],
"offsets": [
[
83,
89
]
],
"normalized": []
},
{
"id": "16909383_T2",
"type": "Gene",
"text": [
"COL2A1"
],
"offsets": [
[
276,
282
]
... | [] | [] | [
{
"id": "16909383_R1",
"type": "AssociatedTo",
"arg1_id": "16909383_T7",
"arg2_id": "16909383_T6",
"normalized": []
}
] |
39 | 16773567 | [
{
"id": "16773567__text",
"type": "abstract",
"text": [
"Intra- and interindividual epigenetic variation in human germ cells. Epigenetics represents a secondary inheritance system that has been poorly investigated in human biology. The objective of this study was to perform a comprehensive analysi... | [
{
"id": "16773567_T1",
"type": "Gene",
"text": [
"PSEN1"
],
"offsets": [
[
478,
483
]
],
"normalized": []
},
{
"id": "16773567_T2",
"type": "Gene",
"text": [
"PSEN2"
],
"offsets": [
[
488,
493
]
... | [] | [] | [] |
40 | 23084292 | [
{
"id": "23084292__text",
"type": "abstract",
"text": [
"Unraveling multiple MHC gene associations with systemic lupus erythematosus: model choice indicates a role for HLA alleles and non-HLA genes in Europeans. We have performed a meta-analysis of the major-histocompatibility-complex (MHC) region... | [
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"HLA-DRB1"
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[
893,
901
... | [] | [] | [] |
41 | 22444671 | [
{
"id": "22444671__text",
"type": "abstract",
"text": [
"Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. CHIME syndrome is characterized by colobomas, heart defects, ichthyosiform dermatosis, mental retardation (intellectual disability), and ear anomalies, including c... | [
{
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{
"id": "22444671_T2",
"type": "Gene",
"text": [
"glycosylphosphatidylinositol"
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"offsets": [
[
17,
... | [] | [] | [
{
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"type": "Equals",
"arg1_id": "22444671_T2",
"arg2_id": "22444671_T1",
"normalized": []
}
] |
42 | 22503632 | [
{
"id": "22503632__text",
"type": "abstract",
"text": [
"SHANK1 Deletions in Males with Autism Spectrum Disorder. Recent studies have highlighted the involvement of rare (<1% frequency) copy-number variations and point mutations in the genetic etiology of autism spectrum disorder (ASD); these vari... | [
{
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"SHANK1"
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364,
370
]
... | [] | [] | [] |
43 | 23122590 | [
{
"id": "23122590__text",
"type": "abstract",
"text": [
"Linkage-disequilibrium-based binning misleads the interpretation of genome-wide association studies.\n"
],
"offsets": [
[
0,
101
]
]
}
] | [] | [] | [] | [] |
44 | 22265016 | [
{
"id": "22265016__text",
"type": "abstract",
"text": [
"RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. Tylosis esophageal cancer (TOC) is an autosomal-dominant syndrome characterized by palmoplantar keratoderma, oral precursor lesions, and a high lifetime ris... | [
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0,
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"c.557T>C"
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475,
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... | [] | [] | [
{
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"normalized": []
},
{
"id": "22265016_R3",
"type... |
45 | 23159251 | [
{
"id": "23159251__text",
"type": "abstract",
"text": [
"An exponential combination procedure for set-based association tests in sequencing studies. State-of-the-art next-generation-sequencing technologies can facilitate in-depth explorations of the human genome by investigating both common and ra... | [] | [] | [] | [] |
46 | 22795537 | [
{
"id": "22795537__text",
"type": "abstract",
"text": [
"De novo mutations in MLL cause Wiedemann-Steiner syndrome. Excessive growth of terminal hair around the elbows (hypertrichosis cubiti) has been reported both in isolation and in association with a variable spectrum of associated phenotypic f... | [
{
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"MLL"
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557,
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... | [] | [] | [] |
47 | 22770979 | [
{
"id": "22770979__text",
"type": "abstract",
"text": [
"Presence of multiple independent effects in risk loci of common complex human diseases. Many genetic loci and SNPs associated with many common complex human diseases and traits are now identified. The total genetic variance explained by thes... | [] | [] | [] | [] |
48 | 22365152 | [
{
"id": "22365152__text",
"type": "abstract",
"text": [
"De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Individuals with severe, sporadic disorders of infantile onset represent an important class... | [
{
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... | [] | [] | [
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}
] |
49 | 22405084 | [
{
"id": "22405084__text",
"type": "abstract",
"text": [
"2011 William Allan Award: development and evolution.\n"
],
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[
0,
53
]
]
}
] | [] | [] | [] | [] |
50 | 22703880 | [
{
"id": "22703880__text",
"type": "abstract",
"text": [
"Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterized by the degeneration of lower motor neur... | [
{
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... | [] | [] | [
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"arg2_id": "22703880_T6",
"normalized": []
}
] |
51 | 22503634 | [
{
"id": "22503634__text",
"type": "abstract",
"text": [
"Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids. Omega-3 and omega-6 long-chain polyunsaturated fatty acids (LC-PUFAs) are essential for the de... | [
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"FADS2"
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[
502,
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... | [] | [] | [] |
52 | 22770981 | [
{
"id": "22770981__text",
"type": "abstract",
"text": [
"HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. Members of the highly conserved homeobox (HOX) gene family encode transcription factors that confer cellular and tissue identities along the antero-posterior axis... | [
{
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0,
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[
323,
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"arg2_id": "22770981_T2",
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}
] |
53 | 23122587 | [
{
"id": "23122587__text",
"type": "abstract",
"text": [
"Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment. Already 40 genes have been identified for autosomal-recessive nonsyndromic hearing impairment (arNSHI); however, many more g... | [
{
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"DFNB18"
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[
458,
464
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},
{
"id": "23122587_R3",
"type... |
54 | 22405088 | [
{
"id": "22405088__text",
"type": "abstract",
"text": [
"Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. Olmsted syndrome (OS) is a rare congenital disorder characterized by palmoplantar and periorificial keratoderma, alopecia in most cases, and severe itching. The gene... | [
{
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38,
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{
"id": "22405088_T2",
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"text": [
"TRPV3"
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[
383,
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]
... | [] | [] | [
{
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"normalized": []
},
{
"id": "22405088_R3",
... |
55 | 22243968 | [
{
"id": "22243968__text",
"type": "abstract",
"text": [
"A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome. Myhre syndrome is a developmental disorder characterized by reduced growth, generalized muscular hypertrophy, facial dysmorphism, deafness, cogni... | [
{
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42,
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"SMAD4"
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478,
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... | [] | [] | [
{
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"type": "Equals",
"arg1_id": "22243968_T3",
"arg2_id": "22243968_T2",
"normalized": []
}
] |
56 | 23122591 | [
{
"id": "23122591__text",
"type": "abstract",
"text": [
"Response to Zhu et al.\n"
],
"offsets": [
[
0,
23
]
]
}
] | [] | [] | [] | [] |
57 | 22226083 | [
{
"id": "22226083__text",
"type": "abstract",
"text": [
"Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1. The molecular basis for primary hereditary hypertriglyceridemia has been identified in fewer t... | [
{
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"GPD1"
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{
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"glycerol-3-phosphate dehydrogenase 1"
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[
... | [] | [] | [
{
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"normalized": []
},
{
"id": "22226083_R3",
"type": "As... |
58 | 22387015 | [
{
"id": "22387015__text",
"type": "abstract",
"text": [
"Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. Fibroblast growth factor receptor 2 (FGFR2) is a crucial regulator of bone formation during embryonic development. Both gain and loss-of-fun... | [
{
"id": "22387015_T1",
"type": "Gene",
"text": [
"Fibroblast growth factor receptor 2"
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101,
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],
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},
{
"id": "22387015_T2",
"type": "Gene",
"text": [
"FGFR2"
],
"offsets": [
[
... | [] | [] | [
{
"id": "22387015_R1",
"type": "Equals",
"arg1_id": "22387015_T1",
"arg2_id": "22387015_T2",
"normalized": []
}
] |
59 | 22521416 | [
{
"id": "22521416__text",
"type": "abstract",
"text": [
"A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. Autosomal-recessive primary microcephaly (MCPH) is a rare congenital disorder characterized by intellectual disability, reduced brain and head si... | [
{
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25,
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},
{
"id": "22521416_T2",
"type": "Gene",
"text": [
"CEP135"
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[
759,
765
]
... | [] | [] | [] |
60 | 8651275 | [
{
"id": "8651275__text",
"type": "abstract",
"text": [
"Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. In two children with an accumulation of guanidinoacetate in brain and a deficiency of creatine in blood, a severe deficiency of guanidinoacet... | [
{
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},
{
"id": "8651275_T2",
"type": "Gene",
"text": [
"GAMT"
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[
... | [] | [] | [
{
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"type": "Equals",
"arg1_id": "8651275_T1",
"arg2_id": "8651275_T2",
"normalized": []
}
] |
61 | 8651280 | [
{
"id": "8651280__text",
"type": "abstract",
"text": [
"Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion. Wolfram syndrome (MIM 222300) is characterized by optic atrophy, diabetes mellitus, diabetes insipidus, neurosensory hearing loss, urinary tract abnormaliti... | [] | [] | [] | [] |
62 | 8940265 | [
{
"id": "8940265__text",
"type": "abstract",
"text": [
"Mucopolysaccharidosis type II (Hunter syndrome): mutation \"hot spots\" in the iduronate-2-sulfatase gene. Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-chromosomal storage disorder due to deficiency of the lysosomal enzyme ... | [
{
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"iduronate-2-sulfatase"
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77,
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{
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"iduronate-2-sulfatase"
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"offsets": [
[
... | [] | [] | [
{
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"type": "Equals",
"arg1_id": "8940265_T2",
"arg2_id": "8940265_T3",
"normalized": []
}
] |
63 | 8940261 | [
{
"id": "8940261__text",
"type": "abstract",
"text": [
"The extent, mechanism, and consequences of genetic variation, for recombination rate.\n"
],
"offsets": [
[
0,
86
]
]
}
] | [] | [] | [] | [] |
64 | 8651277 | [
{
"id": "8651277__text",
"type": "abstract",
"text": [
"Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A). A novel G8363A mutation in the mtDNA tRNA(Lys) gene was associated, in two unrelated families, with a syndrome... | [
{
"id": "8651277_T1",
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"text": [
"G8363A"
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123,
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{
"id": "8651277_T2",
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"text": [
"mitochondrial tRNA(Lys) gene"
],
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[
93,
... | [] | [] | [
{
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"type": "AssociatedTo",
"arg1_id": "8651277_T3",
"arg2_id": "8651277_T4",
"normalized": []
}
] |
65 | 8940267 | [
{
"id": "8940267__text",
"type": "abstract",
"text": [
"Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome. Alport syndrome is a mainly X-linked hereditary disease of basement membranes that is characterized by progressive renal failure, deafness, and ocular lesions. It ... | [
{
"id": "8940267_T1",
"type": "Gene",
"text": [
"COL4A5"
],
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[
29,
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],
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},
{
"id": "8940267_T2",
"type": "Gene",
"text": [
"COL4A5"
],
"offsets": [
[
278,
284
]
... | [] | [] | [] |
66 | 8651297 | [
{
"id": "8651297__text",
"type": "abstract",
"text": [
"Mutations and phenotype in isolated glycerol kinase deficiency. We demonstrate that isolated glycerol kinase (GK) deficiency in three families results from mutation of the Xp21 GK gene. GK mutations were detected in four patients with widely ... | [
{
"id": "8651297_T1",
"type": "Gene",
"text": [
"glycerol kinase"
],
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[
93,
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],
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},
{
"id": "8651297_T2",
"type": "Gene",
"text": [
"GK"
],
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[
110,
112
... | [] | [] | [
{
"id": "8651297_R1",
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"arg1_id": "8651297_T1",
"arg2_id": "8651297_T2",
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},
{
"id": "8651297_R2",
"type": "AssociatedTo",
"arg1_id": "8651297_T10",
"arg2_id": "8651297_T11",
"normalized": []
}
] |
67 | 8755927 | [
{
"id": "8755927__text",
"type": "abstract",
"text": [
"Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. Tuberous sclerosis (TSC) is an autosomal dominant disorder characterized by seizures, mental retardation, and hamartomatous lesions. Although hamartomas ... | [
{
"id": "8755927_T1",
"type": "Gene",
"text": [
"TSC2"
],
"offsets": [
[
474,
478
]
],
"normalized": []
},
{
"id": "8755927_T2",
"type": "Gene",
"text": [
"TSC1"
],
"offsets": [
[
483,
487
]
]... | [] | [] | [] |
68 | 8651311 | [
{
"id": "8651311__text",
"type": "abstract",
"text": [
"Conclusion of LOD-score analysis for family data generated under two-locus models. The power to detect linkage by the LOD-score method is investigated here for diseases that depend on the effects of two genes. The classical strategy is, first... | [] | [] | [] | [] |
69 | 8554049 | [
{
"id": "8554049__text",
"type": "abstract",
"text": [
"Molecular definition of red cell Rh haplotypes by tightly linked SphI RFLPs. The Rh blood group system of human red cells contains five major antigens D, C/c, and E/e (the latter four designated \"non-D\") that are specified by eight gene com... | [] | [] | [] | [] |
70 | 8571955 | [
{
"id": "8571955__text",
"type": "abstract",
"text": [
"Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele. Erythropoietic protoporphyria (EPP) is a monogenic inherited disorder of the heme biosynthetic pathway due to ferro... | [
{
"id": "8571955_T1",
"type": "SNP",
"text": [
"1520 C/T"
],
"offsets": [
[
1143,
1151
]
],
"normalized": []
}
] | [] | [] | [] |
71 | 8755923 | [
{
"id": "8755923__text",
"type": "abstract",
"text": [
"The retrieval of ancient human DNA sequences. DNA was extracted from approximately 600-year-old human remains found at an archaeological site in the southwestern United States, and mtDNA fragments were amplified by PCR. When these fragments w... | [] | [] | [] | [] |
72 | 8755932 | [
{
"id": "8755932__text",
"type": "abstract",
"text": [
"mtDNA sequence diversity in Africa. mtDNA sequences were determined from 241 individuals from nine ethnic groups in Africa. When they were compared with published data from other groups, it was found that the !Kung, Mbuti, and Biaka show on t... | [] | [] | [] | [] |
73 | 8651286 | [
{
"id": "8651286__text",
"type": "abstract",
"text": [
"Finding genes on the X chromosome by which homo may have become sapiens.\n"
],
"offsets": [
[
0,
73
]
]
}
] | [] | [] | [] | [] |
74 | 8554048 | [
{
"id": "8554048__text",
"type": "abstract",
"text": [
"Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed. In order to identify the gene for human X-linked anhidrotic ectodermal dysplasia (EDA), a translocation breakpoint in a female with ... | [
{
"id": "8554048_T1",
"type": "Gene",
"text": [
"EDA"
],
"offsets": [
[
20,
23
]
],
"normalized": []
},
{
"id": "8554048_T2",
"type": "Gene",
"text": [
"EDA"
],
"offsets": [
[
306,
309
]
],
... | [] | [] | [] |
75 | 8751870 | [
{
"id": "8751870__text",
"type": "abstract",
"text": [
"Family study and segregation analysis of Tourette syndrome: evidence for a mixed model of inheritance. To investigate the transmission of Tourette syndrome (TS) and associated disorders within families, complex segregation analysis was perfor... | [] | [] | [] | [] |
76 | 8940284 | [
{
"id": "8940284__text",
"type": "abstract",
"text": [
"Using the expectation or the distribution of the identity by descent for mapping quantitative trait loci under the random model. We examine the ability of four implementations of the random model to map quantitative trait loci (QTLs). The imp... | [] | [] | [] | [] |
77 | 8644710 | [
{
"id": "8644710__text",
"type": "abstract",
"text": [
"The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population. Variant late infantile neuronal ceroid lipofuscinosis (vLINCL) is an autosomal recessive progressive encephalopathy of... | [
{
"id": "8644710_T1",
"type": "Gene",
"text": [
"CLN5"
],
"offsets": [
[
83,
87
]
],
"normalized": []
},
{
"id": "8644710_T2",
"type": "Gene",
"text": [
"CLN5"
],
"offsets": [
[
374,
378
]
],
... | [] | [] | [] |
78 | 8651318 | [
{
"id": "8651318__text",
"type": "abstract",
"text": [
"Detection of linkage to affective disorders in the catalogued Amish pedigrees: a reply to Pauls et al.\n"
],
"offsets": [
[
0,
103
]
]
}
] | [] | [] | [] | [] |
79 | 8751879 | [
{
"id": "8751879__text",
"type": "abstract",
"text": [
"The genetics of traditional living: Y-chromosomal and mitochondrial lineages in the Sinai Peninsula.\n"
],
"offsets": [
[
0,
101
]
]
}
] | [] | [] | [] | [] |
80 | 18355774 | [
{
"id": "18355774__text",
"type": "abstract",
"text": [
"SNP arrays in heterogeneous tissue: highly accurate collection of both germline and somatic genetic information from unpaired single tumor samples. SNP arrays provide reliable genotypes and can detect chromosomal aberrations at a high resolu... | [] | [] | [] | [] |
81 | 19026398 | [
{
"id": "19026398__text",
"type": "abstract",
"text": [
"Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. We have previously reported a group of patients with congenital onset weakness associated with a deficiency ... | [
{
"id": "19026398_T1",
"type": "Gene",
"text": [
"contactin-1"
],
"offsets": [
[
13,
24
]
],
"normalized": []
},
{
"id": "19026398_T2",
"type": "Gene",
"text": [
"CNTN1"
],
"offsets": [
[
895,
900
... | [] | [] | [
{
"id": "19026398_R1",
"type": "Equals",
"arg1_id": "19026398_T2",
"arg2_id": "19026398_T3",
"normalized": []
}
] |
82 | 18394579 | [
{
"id": "18394579__text",
"type": "abstract",
"text": [
"A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. Microtia, a congenital deformity manifesting as an abnormally shaped or absent external ear, occurs in one out of 8,000-10,000 births. We ascertained a... | [
{
"id": "18394579_T1",
"type": "Gene",
"text": [
"HOXA2"
],
"offsets": [
[
14,
19
]
],
"normalized": []
},
{
"id": "18394579_T2",
"type": "Gene",
"text": [
"HOXA1"
],
"offsets": [
[
676,
681
]
... | [] | [] | [
{
"id": "18394579_R1",
"type": "AssociatedTo",
"arg1_id": "18394579_T6",
"arg2_id": "18394579_T4",
"normalized": []
}
] |
83 | 18304497 | [
{
"id": "18304497__text",
"type": "abstract",
"text": [
"Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. A myopathy with severe exercise intolerance and myoglobinuria has been described in patients from northern Sweden, with associated de... | [
{
"id": "18304497_T1",
"type": "Gene",
"text": [
"iron-sulfur cluster scaffold protein"
],
"offsets": [
[
23,
59
]
],
"normalized": []
},
{
"id": "18304497_T2",
"type": "Gene",
"text": [
"ISCU"
],
"offsets": [
[
... | [] | [] | [
{
"id": "18304497_R1",
"type": "Equals",
"arg1_id": "18304497_T1",
"arg2_id": "18304497_T2",
"normalized": []
},
{
"id": "18304497_R2",
"type": "Equals",
"arg1_id": "18304497_T8",
"arg2_id": "18304497_T7",
"normalized": []
}
] |
84 | 18460397 | [
{
"id": "18460397__text",
"type": "abstract",
"text": [
"Differential expression of PTEN-targeting microRNAs miR-19a and miR-21 in Cowden syndrome. Germline mutations in the gene encoding phosphatase and tensin homolog deleted on chromosome ten (PTEN [MIM 601728]) are associated with a number of c... | [
{
"id": "18460397_T1",
"type": "Gene",
"text": [
"PTEN"
],
"offsets": [
[
401,
405
]
],
"normalized": []
},
{
"id": "18460397_T2",
"type": "Gene",
"text": [
"PTEN"
],
"offsets": [
[
807,
811
]
... | [] | [] | [] |
85 | 18252214 | [
{
"id": "18252214__text",
"type": "abstract",
"text": [
"Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood. The mutation 3243A-->G is the most common heteroplasmic pathogenic mitochondrial DNA (mtDNA) mutation in humans, but... | [
{
"id": "18252214_T1",
"type": "SNP",
"text": [
"3243A-->G"
],
"offsets": [
[
96,
105
]
],
"normalized": []
},
{
"id": "18252214_T2",
"type": "SNP",
"text": [
"3243A-->G"
],
"offsets": [
[
138,
147
... | [] | [] | [] |
86 | 18674750 | [
{
"id": "18674750__text",
"type": "abstract",
"text": [
"WW-domain-containing oxidoreductase is associated with low plasma HDL-C levels. Low serum HDL-cholesterol (HDL-C) is a major risk factor for coronary artery disease. We performed targeted genotyping of a 12.4 Mb linked region on 16q to test ... | [
{
"id": "18674750_T1",
"type": "Gene",
"text": [
"WW-domain-containing oxidoreductase"
],
"offsets": [
[
351,
386
]
],
"normalized": []
},
{
"id": "18674750_T2",
"type": "Gene",
"text": [
"WWOX"
],
"offsets": [
[
... | [] | [] | [
{
"id": "18674750_R1",
"type": "Equals",
"arg1_id": "18674750_T1",
"arg2_id": "18674750_T2",
"normalized": []
}
] |
87 | 18439549 | [
{
"id": "18439549__text",
"type": "abstract",
"text": [
"The dawn of human matrilineal diversity. The quest to explain demographic history during the early part of human evolution has been limited because of the scarce paleoanthropological record from the Middle Stone Age. To shed light on the str... | [] | [] | [] | [] |
88 | 18252226 | [
{
"id": "18252226__text",
"type": "abstract",
"text": [
"Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Impaired fetal movement causes malformations, summarized as fetal akinesia deformation sequence (FADS), and is triggered by environmental... | [
{
"id": "18252226_T1",
"type": "Gene",
"text": [
"Acetylcholine receptor"
],
"offsets": [
[
263,
285
]
],
"normalized": []
},
{
"id": "18252226_T2",
"type": "Gene",
"text": [
"AChR"
],
"offsets": [
[
287,
... | [] | [] | [
{
"id": "18252226_R1",
"type": "Equals",
"arg1_id": "18252226_T1",
"arg2_id": "18252226_T2",
"normalized": []
}
] |
89 | 18179886 | [
{
"id": "18179886__text",
"type": "abstract",
"text": [
"Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis. Familial primary localized cutaneous amyloidosis (FPLCA) is an autosomal-dominant disorder associated with chronic skin itching and deposition of... | [
{
"id": "18179886_T1",
"type": "Gene",
"text": [
"OSMR"
],
"offsets": [
[
423,
427
]
],
"normalized": []
},
{
"id": "18179886_T2",
"type": "Gene",
"text": [
"oncostatin M-specific receptor beta"
],
"offsets": [
[
... | [] | [] | [
{
"id": "18179886_R1",
"type": "Equals",
"arg1_id": "18179886_T2",
"arg2_id": "18179886_T3",
"normalized": []
}
] |
90 | 18371931 | [
{
"id": "18371931__text",
"type": "abstract",
"text": [
"Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Many genetic diseases have been linked to the dysfunction of primary cilia, which occur nearl... | [
{
"id": "18371931_T1",
"type": "Gene",
"text": [
"NPHP3"
],
"offsets": [
[
672,
677
]
],
"normalized": []
},
{
"id": "18371931_T2",
"type": "Gene",
"text": [
"NPHP3/Nphp3"
],
"offsets": [
[
907,
918
... | [] | [] | [
{
"id": "18371931_R1",
"type": "Equals",
"arg1_id": "18371931_T3",
"arg2_id": "18371931_T7",
"normalized": []
}
] |
91 | 19012875 | [
{
"id": "19012875__text",
"type": "abstract",
"text": [
"Divergence between human populations estimated from linkage disequilibrium. Observed linkage disequilibrium (LD) between genetic markers in different populations descended independently from a common ancestral population can be used to estim... | [] | [] | [] | [] |
92 | 18179903 | [
{
"id": "18179903__text",
"type": "abstract",
"text": [
"Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. Multiple pterygium syndromes (MPS) comprise a group of multiple congenital anomaly disorders characterized by webbing (pteryg... | [
{
"id": "18179903_T1",
"type": "Gene",
"text": [
"CHRNA1"
],
"offsets": [
[
21,
27
]
],
"normalized": []
},
{
"id": "18179903_T2",
"type": "Gene",
"text": [
"CHRNB1"
],
"offsets": [
[
29,
35
]
... | [] | [] | [
{
"id": "18179903_R1",
"type": "Equals",
"arg1_id": "18179903_T11",
"arg2_id": "18179903_T12",
"normalized": []
},
{
"id": "18179903_R2",
"type": "AssociatedTo",
"arg1_id": "18179903_T17",
"arg2_id": "18179903_T16",
"normalized": []
}
] |
93 | 18950739 | [
{
"id": "18950739__text",
"type": "abstract",
"text": [
"The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. There are many thousands of hereditary diseases in humans, each of which has a specific combination of phenotypic features, but computational analysi... | [] | [] | [] | [] |
94 | 18656178 | [
{
"id": "18656178__text",
"type": "abstract",
"text": [
"A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart. In 1898, E.A. Fay published an analysis of nearly 5000 marriages among deaf individuals in Amer... | [
{
"id": "18656178_T1",
"type": "Gene",
"text": [
"GJB2"
],
"offsets": [
[
1446,
1450
]
],
"normalized": []
}
] | [] | [] | [] |
95 | 18179885 | [
{
"id": "18179885__text",
"type": "abstract",
"text": [
"Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture. The T(-13910) variant located in the enhancer element of the lactase (LCT) gene correlates perfectly... | [
{
"id": "18179885_T1",
"type": "Gene",
"text": [
"lactase"
],
"offsets": [
[
202,
209
]
],
"normalized": []
},
{
"id": "18179885_T2",
"type": "Gene",
"text": [
"LCT"
],
"offsets": [
[
211,
214
]
... | [] | [] | [
{
"id": "18179885_R1",
"type": "Equals",
"arg1_id": "18179885_T1",
"arg2_id": "18179885_T2",
"normalized": []
},
{
"id": "18179885_R2",
"type": "Equals",
"arg1_id": "18179885_T7",
"arg2_id": "18179885_T8",
"normalized": []
}
] |
96 | 18308288 | [
{
"id": "18308288__text",
"type": "abstract",
"text": [
"Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23. Infantile hypertrophic pyloric stenosis (IHPS) has an incidence of 1-8 per 1000 live births and... | [
{
"id": "18308288_T1",
"type": "Gene",
"text": [
"TRPC"
],
"offsets": [
[
973,
977
]
],
"normalized": []
}
] | [] | [] | [] |
97 | 18423522 | [
{
"id": "18423522__text",
"type": "abstract",
"text": [
"Estimating odds ratios in genome scans: an approximate conditional likelihood approach. In modern whole-genome scans, the use of stringent thresholds to control the genome-wide testing error distorts the estimation process, producing estimat... | [] | [] | [] | [] |
98 | 18387595 | [
{
"id": "18387595__text",
"type": "abstract",
"text": [
"On the replication of genetic associations: timing can be everything! The failure of researchers to replicate genetic-association findings is most commonly attributed to insufficient statistical power, population stratification, or various f... | [
{
"id": "18387595_T1",
"type": "Gene",
"text": [
"ROBO1"
],
"offsets": [
[
789,
794
]
],
"normalized": []
}
] | [] | [] | [] |
99 | 18452888 | [
{
"id": "18452888__text",
"type": "abstract",
"text": [
"Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. Brittle cornea syndrome (BCS) is an autosomal-recessive disorder characterized by a thin cornea that tends to perforate, causing progressive visual loss and bli... | [
{
"id": "18452888_T1",
"type": "Gene",
"text": [
"Zinc-Finger 469"
],
"offsets": [
[
29,
44
]
],
"normalized": []
},
{
"id": "18452888_T3",
"type": "Gene",
"text": [
"Zinc-Finger 469"
],
"offsets": [
[
718,
... | [] | [] | [
{
"id": "18452888_R1",
"type": "Equals",
"arg1_id": "18452888_T3",
"arg2_id": "18452888_T4",
"normalized": []
},
{
"id": "18452888_R2",
"type": "AssociatedTo",
"arg1_id": "18452888_T5",
"arg2_id": "18452888_T4",
"normalized": []
},
{
"id": "18452888_R3",
"type... |
End of preview. Expand
in Data Studio
Dataset Card for SETH Corpus
SNP named entity recognition corpus consisting of 630 PubMed citations.
Citation Information
@Article{SETH2016,
Title = {SETH detects and normalizes genetic variants in text.},
Author = {Thomas, Philippe and Rockt{"{a}}schel, Tim and Hakenberg, J{"{o}}rg and Lichtblau, Yvonne and Leser, Ulf},
Journal = {Bioinformatics},
Year = {2016},
Month = {Jun},
Doi = {10.1093/bioinformatics/btw234},
Language = {eng},
Medline-pst = {aheadofprint},
Pmid = {27256315},
Url = {http://dx.doi.org/10.1093/bioinformatics/btw234
}
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