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0 | 0 | this study proposes that A/A genotype at position -607 in @GENE$ gene can be used as a new genetic maker in Thai population for predicting @DISEASE$ development. | [
"1"
] |
1 | 1 | Common polymorphisms in the genes @GENE$ and LOC387715 are independently related to @DISEASE$ progression after adjustment for other known AMD risk factors. | [
"1"
] |
2 | 2 | Results do not support any overall association of the Ala-9Val @GENE$ polymorphism to the development of @DISEASE$. | [
"1"
] |
3 | 3 | @GENE$ methylation occurs frequently in human colonic @DISEASE$ and cancers and is closely associated with K-ras mutations. | [
"0"
] |
4 | 4 | In conclusion, @GENE$ 8092C > A polymorphism may modify the associations between cumulative cigarette smoking and @DISEASE$ risk. | [
"1"
] |
5 | 5 | Allele A in @GENE$ gene +252 site can significantly increase the relative risk of @DISEASE$ in women in Guangdong, among which TNF-beta AA genotype might be one of the genetic susceptible factors for endometriosis. | [
"1"
] |
6 | 6 | Our data indicate that the -160 single nucleotide polymorphism in @GENE$ is a low-penetrant @DISEASE$ susceptibility gene that might explain a proportion of familial and notably hereditary prostate cancer. | [
"1"
] |
7 | 7 | These results suggest that the @GENE$/-159 polymorphism is an important marker for the @DISEASE$ of IgAN and may modulate the level of the inflammatory responses. | [
"0"
] |
8 | 8 | there is no evidence for an association of @GENE$ alleles with @DISEASE$ in our study groups. | [
"1"
] |
9 | 9 | The association between the @GENE$ G allele and early RA is largely explained by individuals with @DISEASE$ who have coexisting autoimmune endocrinopathies. | [
"1"
] |
10 | 10 | The results suggest that the presence of alleles @GENE$*0104, DRB1*07/06, HCMV sequences and the fetal inheritance of maternal G*0104, should be considered as conditioning factors for the development of @DISEASE$. | [
"1"
] |
11 | 11 | These results suggest that the @GENE$ -93G-->A polymorphism could be used as a marker of genetic susceptibility to @DISEASE$ of the lung. | [
"0"
] |
12 | 12 | In patients with @DISEASE$, the possession of the 298Asp and -786C variants of the @GENE$ gene are a risk factor for coronary in-stent restenosis, demonstrating the importance of the nitric oxide system in restenosis. | [
"1"
] |
13 | 13 | We conclude that the @GENE$ and AGT polymorphisms do not contribute to the genetic susceptibility to @DISEASE$ and retinopathy in a caucasian Mediterranean population. | [
"0"
] |
14 | 14 | There are no statistically significant differences in the frequencies of the Rad52 mutations between the control group and sporadic @DISEASE$ patients and between the control groups and familial breast/ovarian cancer patients, indicating that these two mutations of the @GENE$ do not play a major role in the initiation of sporadic ovarian carcinoma and familial breast/ovarian cancer. | [
"1"
] |
15 | 15 | These results implicate @GENE$ in susceptibility to Crohn's disease, and suggest a link between an @DISEASE$ to bacterial components and development of disease. | [
"0"
] |
16 | 16 | Thus, our analyses of the genetic variations of the @GENE$ gene suggest that, at least in French Caucasians, they do not represent a major cause of @DISEASE$. | [
"1"
] |
17 | 17 | Variants in the regulatory region shared by PARK2 and @GENE$ therefore act as common risk factors for @DISEASE$. | [
"1"
] |
18 | 18 | These results suggested that the @GENE$ gene might be involved in the susceptibility to RA in the Chinese Han population and both +49 and CT60 of CTLA-4 gene might be the causal variants in @DISEASE$ disease. | [
"1"
] |
19 | 19 | A large @DISEASE$ of exons 9 and 10 of @GENE$ confers an increased risk of prostate cancer in Polish men. | [
"0"
] |
20 | 20 | By analysis of a large number of subjects and a more specific patient selection, we showed the first genetic evidence that @GENE$ C677T, MS A2756G and MTRR A66G genotypes were independently associated with @DISEASE$. | [
"1"
] |
21 | 21 | Our findings argue against an association between @GENE$ polymorphism and @DISEASE$ and support the hypothesis for a different pathogenesis of GH in respect to EH. | [
"0"
] |
22 | 22 | No evidence was obtained that the studied polymorphism in @GENE$ is a determinant of the coumarin-associated @DISEASE$. | [
"0"
] |
23 | 23 | These findings, coupled with similar findings in Utah Caucasians, suggest that sequence variation in @GENE$ may influence risk of @DISEASE$. | [
"1"
] |
24 | 24 | The CD154 3'@GENE$ microsatellite is associated with @DISEASE$, and the most represented alleles in patients were accompanied by a more prolonged protein expression in activated lymphocytes from controls. | [
"0"
] |
25 | 25 | These data suggest that CYP1A1*4, NAT1 and @GENE$ variants are involved in the susceptibility to @DISEASE$ by modifying the impact of exogenous and/or endogenous exposures. | [
"1"
] |
26 | 26 | We conclude that the human @GENE$ gene is rather involved in the development of @DISEASE$ and changes in total IgE levels than contributing to the pathogenesis of asthma. | [
"1"
] |
27 | 27 | The prevalence of the Arg allele of the Trp64Arg polymorphism in the @GENE$-adrenergic receptor gene may contribute to the susceptibility to @DISEASE$ among obese/overweight individuals. | [
"0"
] |
28 | 28 | Together, our findings suggest that @GENE$ gene polymorphisms do not influence the susceptibility to MS or the clinical characteristics of @DISEASE$ in Japanese patients. | [
"1"
] |
29 | 29 | The results do not provide evidence that the @GENE$ gene is involved in biological vulnerability to @DISEASE$. | [
"1"
] |
30 | 30 | Our results indicate that the intron 2 CYP46 C/C genotype may predispose to @DISEASE$, and this association is independent of the @GENE$ genotype. | [
"1"
] |
31 | 31 | Abnormal @GENE$ gene copy numbers are a genetic risk factor in @DISEASE$. | [
"0"
] |
32 | 32 | We conclude that the effect of the -308G > A polymorphism on the development of @DISEASE$ is, if any, weak and the majority of Japanese schizophrenics are unrelated to the -308G > A polymorphism of the @GENE$ gene. | [
"1"
] |
33 | 33 | These data did not provide evidence for a contribution of the 102T/C SNP of @GENE$ gene to susceptibility to the southern Han Chinese @DISEASE$. | [
"1"
] |
34 | 34 | Our findings show that the probability of having the @GENE$ 1083TT genotype decreases as habitual caffeine @DISEASE$ increases. | [
"0"
] |
35 | 35 | In conclusion, our data suggest that genetic variation in the @GENE$ gene may have a @DISEASE$ effect on visceral and sc visfatin mRNA expression profiles but does not play a major role in the development of obesity or T2DM. | [
"0"
] |
36 | 36 | These data strongly suggest that @GENE$ is not a significant susceptibility allele for @DISEASE$. | [
"1"
] |
37 | 37 | Combined with staging, direct monitoring of @GENE$ @DISEASE$ improves prognostic accuracy for colorectal cancer. | [
"0"
] |
38 | 38 | This study provides further evidence to support the role of @GENE$ in the pathogenesis of @DISEASE$, and indicates that the MMP9 C-1562T functional polymorphism may represent a genetic component contributing to susceptibility to this vascular disease. | [
"1"
] |
39 | 39 | As DKK family members have previously been found to show altered expression in @DISEASE$ brain and to bind to neuregulin, this finding suggests that @GENE$ may play a role in schizophrenia pathogenesis. | [
"1"
] |
40 | 40 | The presence of 894T allele on @GENE$ gene is associated with @DISEASE$ endothelial function and higher levels of von Willebrand factor in relatively young patients with myocardial infarction. | [
"0"
] |
41 | 41 | These results do not suggest that @GENE$ or PsPRODH contribute to the aetiology of @DISEASE$, and that the putative schizophrenia susceptibility gene in 22q11 remains unknown. | [
"1"
] |
42 | 42 | mtDNA @GENE$ is a rapid and reliable high-throughput method for mutations detection, and T3 394C @DISEASE$ in ND1 gene might contribute to the pathogenesis of mitochondrial diabetes. | [
"0"
] |
43 | 43 | The prothrombotic Pl(@GENE$) allele of platelet fibrinogen receptor GPIIb/IIIa increased the risk of @DISEASE$ in RCC in men. | [
"0"
] |
44 | 44 | The majority of the Colombian @DISEASE$ cases, predominantly late-onset, were negative for PSEN and @GENE$ mutations. | [
"1"
] |
45 | 45 | The interaction of @GENE$ and ADD3 gene variants in humans is statistically associated with variation in @DISEASE$ pressure, suggesting the presence of epistatic effects among these loci. | [
"0"
] |
46 | 46 | The observed association suggests that individuals with @GENE$-251TT and interleukin-10-819TT, a combination presumably causing mild inflammation, have a higher probability of the continuing @DISEASE$, especially among current smokers. | [
"1"
] |
47 | 47 | Sequence variation in @GENE$ is not the major cause of radiotherapy @DISEASE$ in women with breast cancer. | [
"0"
] |
48 | 48 | The @GENE$ gene significantly influences the risk of @DISEASE$ but not endometriosis. | [
"0"
] |
49 | 49 | Our results indicate that common variants in the @GENE$, CHEK2 or ERBB2 genes are not involved in modifying breast cancer survival or the risk of tumour-characteristic-defined @DISEASE$. | [
"1"
] |
50 | 50 | Although a possible interaction between @GENE$ gene C/T polymorphism and SP-1 transcription factor has been reported in the literature, we did not find any evidence for this the difference among clinical staging, pathological grading, or responsiveness to hormonal therapy in @DISEASE$. | [
"1"
] |
51 | 51 | The @GENE$ gene 5 bp D/I within 3'-UTR polymorphism taking on genetic variation among the different races of mankind may not play a critical role in the development of @DISEASE$ in Chinese Hans of Hefei region in Anhui province. | [
"1"
] |
52 | 52 | Our results suggest that @GENE$ *1/*1 and NAT2 @DISEASE$ genotypes might modulate the effect of carcinogenic arylamines contained in tobacco smoke, and that the modulation of NAT2 intermediate and slow acetylator genotype has a tendency to present a higher risk for highly differentiated tumors among heavy-smokers. | [
"0"
] |
53 | 53 | Systematic screening of 431 @DISEASE$ children and adults for mutations in the coding sequence and the minimal core promoter of @GENE$ reveals that genetic variation in the transcriptionally essential region of the MC4R promoter is not a significant cause of severe obesity in humans. | [
"1"
] |
54 | 54 | This study, together with an in vitro functional study, suggests that the @GENE$ gene is an important susceptibility locus for @DISEASE$ on chromosome11q13. | [
"1"
] |
55 | 55 | These results provide strong evidence for pathogenic variant(s) in the 276-kb region harboring @GENE$ that influence intermediate @DISEASE$ phenotypes and risk for AD. | [
"1"
] |
56 | 56 | we identified @GENE$ to be associated with an increased risk for @DISEASE$, which was modified by smoking. | [
"1"
] |
57 | 57 | Patients with @DISEASE$ and @GENE$ exon 19 deletions have a longer survival following treatment with gefitinib or erlotinib compared with those with the L858R mutation. | [
"0"
] |
58 | 58 | These results warrant prolonged medical surveillance and may indicate a clinically important interaction between @GENE$ heterozygosity and radiation in the development of @DISEASE$. | [
"0"
] |
59 | 59 | Presence of the @GENE$ gene promoter polymorphisms was found to be a negative prognostic parameter in patients with @DISEASE$. | [
"1"
] |
60 | 60 | To summarize, alterations of the @GENE$ gene do not lead to clinically relevant @DISEASE$ predisposition and are therefore most unlikely to contribute to familial ovarian cancer. | [
"1"
] |
61 | 61 | The @GENE$ gene may, therefore, be a susceptibility gene in some vitiligo patients, further supporting the epidermal @DISEASE$ model for vitiligo pathogenesis. | [
"0"
] |
62 | 62 | We conclude that the @GENE$ gene Bst U I polymorphism is a suitable genetic marker of @DISEASE$. | [
"0"
] |
63 | 63 | @GENE$ @DISEASE$ genotype is related to endothelium-dependent arterial dilation in the early stage of type 2 diabetes mellitus and in healthy individuals. | [
"0"
] |
64 | 64 | Our findings suggest that @GENE$ may be involved in the pathogenesis of micro- and macrovascular complications in @DISEASE$, and that determination of MBL status might be used to identify patients at increased risk of developing these complications. | [
"1"
] |
65 | 65 | it is likely that @GENE$ gene does not have a major role in diabetes and CHD in our populations, although we can not exclude a minor contribution of the PPARalpha gene to the risk of @DISEASE$ associated with Type 2 diabetes through a modulation of atherogenic plasma lipids. | [
"1"
] |
66 | 66 | We observed no statistically significant interaction between @GENE$ genotype and asbestos exposure for @DISEASE$ risk. | [
"1"
] |
67 | 67 | @GENE$ could be directly involved in protecting critical enzymes or organelles against oxidative damage; PON2 may thus predispose to the development of microvascular @DISEASE$. | [
"0"
] |
68 | 68 | These data suggest that the Ala allele of @GENE$ may modify @DISEASE$ risk among current smokers, but is not an independent risk factor for breast cancer. | [
"1"
] |
69 | 69 | Our results suggest that @GENE$ is one of the genes that contributes to susceptibility to @DISEASE$, and that the association of the TNF/LTA haplotypes to asthma may be defined by the polymorphism in the LTA promoter region in the Japanese population. | [
"0"
] |
70 | 70 | The present investigation provides no evidence that the variable repeat located in the regulatory sequences of the @DISEASE$ gene @GENE$ is associated with the risk of developing POAG or exfoliation glaucoma. | [
"1"
] |
71 | 71 | These results indicate that mutations in NLGN3 and @GENE$ genes are responsible for at most a small fraction of @DISEASE$ cases and additional screenings in other autistic populations are needed to better determine the frequency with which mutations in NLGN3 and NLGN4 occur in autism. | [
"1"
] |
72 | 72 | Our results suggest that inherited variability in DNA repair capacity, as reflected by polymorphisms in @GENE$ and APE1, is a risk factor for @DISEASE$. | [
"1"
] |
73 | 73 | Our findings of an increased risk of systemic sclerosis in @GENE$ D and eNOS 894T allele carriers suggest that these polymorphisms may contribute to the @DISEASE$ of the disease. | [
"0"
] |
74 | 74 | in a large study sample, we were unable to find robust evidence of an association of the Pro129Thr @GENE$ variant with overweight, @DISEASE$, and any related quantitative traits among the examined whites. | [
"1"
] |
75 | 75 | These data suggest that the @GENE$ 469KK genotype could be a genetic risk factor for @DISEASE$ in Type 2 diabetes mellitus. | [
"0"
] |
76 | 76 | Polymorphism of IL-12 @GENE$ gene was not found to be associated with the presence or severity of @DISEASE$, suggesting that it does not play an important role in the development of this disease. | [
"0"
] |
77 | 77 | We conclude that @DISEASE$ polymorphism of @GENE$ gene, as an independent variable, is not associated with reflux nephropathy in children with vesicoureteral reflux. | [
"0"
] |
78 | 78 | A strong interaction between SNP309 status and tumor p53 status appears to modify the association between @GENE$ status and @DISEASE$ survival. | [
"1"
] |
79 | 79 | Our results suggest that H. pylori interacts with @GENE$ and that there are functional allelic differences that affect susceptibility to @DISEASE$. | [
"1"
] |
80 | 80 | the truncating @GENE$ SNP is not important in this group of Th1 dominated granulomatous @DISEASE$. | [
"0"
] |
81 | 81 | Result showed that the @DISEASE$ of the Turkish population seemed to develop without any alterations in @GENE$ Glu298Asp genotype frequency and the serum nitric oxide level. | [
"1"
] |
82 | 82 | These results indicate that gain-of-function variants of T helper @GENE$ 2 cytokine genes may play a role in increasing the severity of RSV @DISEASE$, which appears more pronounced after the first half-year of life. | [
"0"
] |
83 | 83 | The results of our study indicate that atopic diseases are caused, in part, by impairment of the IL-12 signal cascade, which downregulates IgE production, and that the mutation of the @GENE$) chain gene is one of the causative genes for @DISEASE$. | [
"1"
] |
84 | 84 | We conclude that @GENE$ coding sequence mutations are not an important factor in the aetiology of @DISEASE$. | [
"1"
] |
85 | 85 | Our data suggest that polymorphisms of the @GENE$, CCKAR and CCKBR genes do not play a major role in @DISEASE$ symptoms (even though significant associations were found among polymorphisms at the -388 and -333 loci of the CCKAR gene and hallucinations, the rate was nonsignificant after Bonferroni correction). | [
"0"
] |
86 | 86 | Our findings suggest that @GENE$ Cys557Ser is an ancient variant that confers risk of single and multiple primary @DISEASE$, and this risk extends to carriers of the BRCA2 999del5 mutation. | [
"1"
] |
87 | 87 | We did not find significant evidence to support an association of @GENE$ allele 5A or MMP-1 allele 2G with @DISEASE$ in Norwegian and Swedish populations. | [
"1"
] |
88 | 88 | Our findings suggest that the @GENE$ SNP309 may be a risk factor for the occurrence and advanced neck @DISEASE$ of NPC in Chinese population. | [
"0"
] |
89 | 89 | We conclude that polymorphism in the @GENE$ gene may influence @DISEASE$ and tamoxifen treatment response in early-onset breast carcinomas. | [
"0"
] |
90 | 90 | Our data showed that @GENE$ genetic polymorphisms might be useful as prognostic genetic markers for @DISEASE$ in the clinical setting. | [
"1"
] |
91 | 91 | We conclude that this mutation appears to be a frequent @GENE$ gene polymorphism causing no impaired function of the enzyme and no measurable @DISEASE$ in the general population. | [
"1"
] |
92 | 92 | Our results suggest that the +1730 G/A polymorphism of the @GENE$ gene may not be associated with the risk of @DISEASE$ in the Korean population, which was not the case in the Japanese population. | [
"1"
] |
93 | 93 | This @DISEASE$ suggests a role, in at least a group of patients, for the @GENE$ mutation in genetic susceptibility to MS. | [
"0"
] |
94 | 94 | There was no association between @GENE$ alleles and the CagA status of infected individuals, although certain alleles show significant association to the @DISEASE$ status in different populations. | [
"0"
] |
95 | 95 | The 67G allele of @GENE$ may be a contributing factor in the pathogenesis of @DISEASE$. | [
"1"
] |
96 | 96 | Although the mechanism underlying the association is unclear, the findings are of interest because @GENE$ may provide a link between coagulation and @DISEASE$ pressure regulation. | [
"0"
] |
97 | 97 | We conclude that the structure of this @GENE$ promoter region does not have a large impact on the expression of @DISEASE$ characteristics in the present Swedish population. | [
"0"
] |
98 | 98 | The genotype-phenotype analysis showed a significant association (@GENE$.001) between @DISEASE$ and the presence of mutations at codon 694 in exon 10 (both M694V and M694I). | [
"0"
] |
99 | 99 | The @GENE$ polymorphism Tyr402His appears indicative of @DISEASE$ pathogenesis. | [
"1"
] |
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Dataset Card for GAD
A corpus identifying associations between genes and diseases by a semi-automatic annotation procedure based on the Genetic Association Database.
Note about homepage
The homepage for this dataset is no longer reachable, but the url is recorded here. Data for this dataset was originally downloaded from a google drive folder (the link used in the BLURB benchmark data download script. However, we host the data in the huggingface hub for more reliable downloads and access.
Citation Information
@article{Bravo2015,
doi = {10.1186/s12859-015-0472-9},
url = {https://doi.org/10.1186/s12859-015-0472-9},
year = {2015},
month = feb,
publisher = {Springer Science and Business Media {LLC}},
volume = {16},
number = {1},
author = {{\`{A}}lex Bravo and Janet Pi{\~{n}}ero and N{\'{u}}ria Queralt-Rosinach and Michael Rautschka and Laura I Furlong},
title = {Extraction of relations between genes and diseases from text and large-scale data analysis: implications for translational research},
journal = {{BMC} Bioinformatics}
}
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