EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 293; N. variants: 35
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4953348
rs4953348
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C1860224
Disease:
ABLEPHARON-MACROSTOMIA SYNDROME
0.010 GeneticVariation BEFREE The rs4953348 polymorphism of EPAS1 gene had a significant correlation with the SaO2 level and AMS, and a significant difference in the AG and GG genotype distribution between the AMS and non-AMS groups. 27982053 2016
dbSNP: rs4953354
rs4953354
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder)
0.010 GeneticVariation BEFREE The EPAS1 rs4953354 may be a potentially susceptible marker for development of lung adenocarcinoma, especially in female never-smokers. 25436804 2014
dbSNP: rs6756667
rs6756667
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0003123
Disease:
Anorexia
0.010 GeneticVariation BEFREE However, only dominant, overdominant, and log-additive models of <i>EPAS1</i> rs6756667 showed decreased risk of HA appetite loss in the crude and adjusted analysis. 30778304 2019
dbSNP: rs4953353
rs4953353
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0005612
Disease:
Birth Weight
G 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
dbSNP: rs17039192
rs17039192
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Our results indicated a boardline connection between HIF-1 rs11549467 and BC risk (AG compared with GG: OR = 1.61, 95% CI = 1.05-2.49, <i>P</i>=0.03; AG + AA compared with GG: OR = 1.64, 95% CI = 1.08-2.51, <i>P</i>=0.02; AG compared with GG + AA: OR = 1.61, 95% CI = 1.04-2.48, <i>P</i>=0.03; OR = 1.64, 95% CI = 1.09-2.45, <i>P</i>=0.02), while HIF-2 rs17039192 had no influence on breast cancer. 30135144 2018
dbSNP: rs1267580705
rs1267580705
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE VHL-R167Q binds elongin C and elongin B with considerably less avidity than wild-type VHL does but retains residual capacity to generate a VHL-elongin C-elongin B complex, downregulate HIF2α, and suppress tumorigenesis</span>, which could be rescued by increase of VHL-R167Q levels. 24755468 2014
dbSNP: rs13419896
rs13419896
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE HIF2A rs13419896 and VEGFA rs833061 were significantly related to lung cancer risk, with possible interaction between polymorphisms and cigarette smoking. 27981753 2017
dbSNP: rs4953354
rs4953354
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE The aim of this study was to explore a possible association of the EPAS1 gene rs4953354 polymorphism with susceptibility to lung cancer. 25436804 2014
dbSNP: rs13419896
rs13419896
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0151517
Disease:
Complete atrioventricular block
0.010 GeneticVariation BEFREE The HIF-2a rs13419896 polymorphism is associated with an increased risk of CHB and LC in the Guangxi Chinese population, especially in females and in the non-alcohol-drinking population, while the HIF-2a gene rs6715787 polymorphism is associated with a decreased risk of LC in the Guangxi Zhuang population. 27384772 2016
dbSNP: rs6715787
rs6715787
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0151517
Disease:
Complete atrioventricular block
0.010 GeneticVariation BEFREE The HIF-2a rs13419896 polymorphism is associated with an increased risk of CHB and LC in the Guangxi Chinese population, especially in females and in the non-alcohol-drinking population, while the HIF-2a gene rs6715787 polymorphism is associated with a decreased risk of LC in the Guangxi Zhuang population. 27384772 2016
dbSNP: rs7579899
rs7579899
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0279702
Disease:
Conventional (Clear Cell) Renal Cell Carcinoma
0.030 GeneticVariation BEFREE No significant association between rs7579899 or rs7105934 and RCC risk was observed. 22131124 2012
dbSNP: rs7579899
rs7579899
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0279702
Disease:
Conventional (Clear Cell) Renal Cell Carcinoma
0.030 GeneticVariation BEFREE Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC. 21131975 2011
dbSNP: rs7579899
rs7579899
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0279702
Disease:
Conventional (Clear Cell) Renal Cell Carcinoma
0.030 GeneticVariation BEFREE The authors observed evidence of interactions between PhIP and RCC susceptibility variants in 2 genes: inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2) (rs718314; multiplicative P for interaction = .03 and additive P for interaction =.002) and endothelial PAS domain-containing protein 1 (EPAS1) (rs7579899; additive P for interaction =.06). 26551148 2016
dbSNP: rs11894252
rs11894252
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0279702
Disease:
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 GeneticVariation BEFREE Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC. 21131975 2011
dbSNP: rs12617313
rs12617313
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0279702
Disease:
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 GeneticVariation BEFREE Genotype analysis of rs12617313 confirmed an association with RCC risk (P = 1.72 × 10(-9), per-allele OR = 1.28, 95% CI: 1.18-1.39) In conclusion, we report that chromosome 2p21 harbors a complex genetic architecture for common RCC risk variants. 22113997 2012
dbSNP: rs1267580705
rs1267580705
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0279702
Disease:
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 GeneticVariation BEFREE Thus, our studies revealed detailed information describing how VHL-R167Q contributes to tumorigenesis and identified a potential targeted therapy for ccRCC and other VHL-related disease in patients carrying VHL-R167Q or similar missense mutations. 24755468 2014
dbSNP: rs9679290
rs9679290
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0279702
Disease:
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 GeneticVariation BEFREE We genotyped 59 tagged common single-nucleotide polymorphisms (SNPs) in 2278 RCC and 3719 controls of European background and observed a novel signal for rs9679290 [P = 5.75 × 10(-8), per-allele odds ratio (OR) = 1.27, 95% confidence interval (CI): 1.17-1.39]. 22113997 2012
dbSNP: rs17039192
rs17039192
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0029408
Disease:
Degenerative polyarthritis
0.010 GeneticVariation BEFREE Our large-scale meta-analysis showed that the association of rs17039192 in HIF-2α with knee OA is negative. 22247019 2012
dbSNP: rs1868092
rs1868092
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C1314664
Disease:
Dipstick assessment of hemoglobin concentration
0.700 GeneticVariation GWASDB Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders. 20534544 2010
dbSNP: rs4953354
rs4953354
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0272139
Disease:
Erythrocytosis due to low atmospheric pressure
0.020 GeneticVariation BEFREE Moreover, the A alleles of rs12619696 and rs4953354 were prevalent in the HAPC group, and their counterpart homozygotes were prevalent in the normal Tibetan group (P < .05). 25792003 2015
dbSNP: rs4953354
rs4953354
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0272139
Disease:
Erythrocytosis due to low atmospheric pressure
0.020 GeneticVariation BEFREE Carriers of this EPAS1 haplotype (G-G-G, rs13419896, rs4953354, and rs1868092) may have a higher risk for HAPC. 25239027 2014
dbSNP: rs1868092
rs1868092
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0272139
Disease:
Erythrocytosis due to low atmospheric pressure
0.010 GeneticVariation BEFREE Carriers of this EPAS1 haplotype (G-G-G, rs13419896, rs4953354, and rs1868092) may have a higher risk for HAPC. 25239027 2014
dbSNP: rs137853036
rs137853036
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease:
Erythrocytosis, Familial, 4
0.800 GeneticVariation UNIPROT A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. 18184961 2008
dbSNP: rs137853036
rs137853036
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease:
Erythrocytosis, Familial, 4
0.800 GeneticVariation UNIPROT Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. 18378852 2008
dbSNP: rs137853036
rs137853036
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease:
Erythrocytosis, Familial, 4
A 0.800 CausalMutation CLINVAR