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: rs137853036
rs137853036
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease:
Erythrocytosis, Familial, 4
0.800 GeneticVariation UNIPROT Two new mutations in the HIF2A gene associated with erythrocytosis. 22367913 2012
dbSNP: rs137853036
rs137853036
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease:
Erythrocytosis, Familial, 4
0.800 GeneticVariation UNIPROT Clinical utility gene card for: familial erythrocytosis. 22274579 2012
dbSNP: rs137853036
rs137853036
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease:
Erythrocytosis, Familial, 4
0.800 GeneticVariation UNIPROT Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline. 19208626 2009
dbSNP: rs137853036
rs137853036
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease:
Erythrocytosis, Familial, 4
T 0.800 CausalMutation CLINVAR
dbSNP: rs137853037
rs137853037
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease:
Erythrocytosis, Familial, 4
0.800 GeneticVariation UNIPROT Clinical utility gene card for: familial erythrocytosis. 22274579 2012
dbSNP: rs137853037
rs137853037
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease:
Erythrocytosis, Familial, 4
0.800 GeneticVariation UNIPROT Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline. 19208626 2009
dbSNP: rs137853037
rs137853037
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease:
Erythrocytosis, Familial, 4
0.800 GeneticVariation UNIPROT Two new mutations in the HIF2A gene associated with erythrocytosis. 22367913 2012
dbSNP: rs137853037
rs137853037
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: rs137853037
rs137853037
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease:
Erythrocytosis, Familial, 4
G 0.800 CausalMutation CLINVAR
dbSNP: rs137853037
rs137853037
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: rs1868092
rs1868092
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C1318517
Disease:
Finding of hemoglobin concentration
0.700 GeneticVariation GWASDB Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders. 20534544 2010
dbSNP: rs1868092
rs1868092
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0019029
Disease:
Hemoglobin concentration result
0.700 GeneticVariation GWASDB Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders. 20534544 2010
dbSNP: rs372272284
rs372272284
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0518015
Disease:
Hemoglobin measurement
G 0.700 GeneticVariation GWASCAT Detecting past and ongoing natural selection among ethnically Tibetan women at high altitude in Nepal. 30188897 2018
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: 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: 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: 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: 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: 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: 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: 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: 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: rs4953354
rs4953354
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0242379
Disease:
Malignant neoplasm 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: 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: rs150797491
rs150797491
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE We show that this is a gain-of-function mutation and demonstrate no loss-of-heterozygosity or additional somatic mutation of HIF2A in the tumor, indicating HIF2A (F374Y) may be predisposing rather than causative of PHEO/PGL. 23090011 2013