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: 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: rs12614710
rs12614710
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE Subsequent sequencing of network hub genes within a subset of samples from the Transdisciplinary Research in Cancer of the Lung-International Lung Cancer Consortium (TRICL-ILCCO) consortium revealed a SNP (rs12614710) in EPAS1 associated with NSCLC that reached genome-wide significance (OR = 1.50; 95% CI: 1.31-1.72; p = 7.75 × 10<sup>-9</sup>). 29859855 2018
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: rs17039192
rs17039192
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0006142
Disease:
Malignant neoplasm of breast
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: 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: rs13419896
rs13419896
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C1306460
Disease:
Primary malignant neoplasm 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: rs13419896
rs13419896
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0242379
Disease:
Malignant neoplasm 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: rs137853036
rs137853036
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0032461
Disease:
Polycythemia
0.010 GeneticVariation BEFREE Firstly, we identified a rare but well studied germline mutation resulting in polycythemia in HIF2A (c.1609G>A, p.Gly537Arg) in the blood of the patient and his daughter. 29172931 2017
dbSNP: rs13419896
rs13419896
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0524909
Disease:
Hepatitis B, Chronic
0.010 GeneticVariation BEFREE The aim of this study is to determine whether HIF-2a rs13419896 and rs6715787 single-nucleotide polymorphisms (SNPs) are associated with susceptibility to chronic hepatitis B (CHB), liver cirrhosis (LC), or hepatocellular carcinoma (HCC). 27384772 2016
dbSNP: rs13419896
rs13419896
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0023890
Disease:
Liver Cirrhosis
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: rs13419896
rs13419896
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE The aim of this study is to determine whether HIF-2a rs13419896 and rs6715787 single-nucleotide polymorphisms (SNPs) are associated with susceptibility to chronic hepatitis B (CHB), liver cirrhosis (LC), or hepatocellular carcinoma (HCC). 27384772 2016
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: rs4953348
rs4953348
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE The A allele of rs4953348 is a protective factor for AMS through HR and Vm-BA compensation, while the G allele may contribute to hypoxic pulmonary hypertension in AMS. 27982053 2016
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: rs6715787
rs6715787
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0524909
Disease:
Hepatitis B, Chronic
0.010 GeneticVariation BEFREE The aim of this study is to determine whether HIF-2a rs13419896 and rs6715787 single-nucleotide polymorphisms (SNPs) are associated with susceptibility to chronic hepatitis B (CHB), liver cirrhosis (LC), or hepatocellular carcinoma (HCC). 27384772 2016
dbSNP: rs6715787
rs6715787
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE The aim of this study is to determine whether HIF-2a rs13419896 and rs6715787 single-nucleotide polymorphisms (SNPs) are associated with susceptibility to chronic hepatitis B (CHB), liver cirrhosis (LC), or hepatocellular carcinoma (HCC). 27384772 2016
dbSNP: rs6715787
rs6715787
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0023890
Disease:
Liver Cirrhosis
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: rs13419896
rs13419896
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE The A Allele at rs13419896 of EPAS1 Is Associated with Enhanced Expression and Poor Prognosis for Non-Small Cell Lung Cancer. 26263511 2015
dbSNP: rs1267580705
rs1267580705
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE We showed that the protein levels of VHL-R167Q dictate its ability to downregulate HIF2α and suppress tumor growth. 24755468 2014
dbSNP: rs1267580705
rs1267580705
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome
0.010 GeneticVariation BEFREE About one third of VHL mutations are missense point mutations, with R167Q being the most common VHL point mutation in hereditary VHL disease. 24755468 2014
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: 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: 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: 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