Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.700 GeneticVariation disease UNIPROT Two new mutations in the HIF2A gene associated with erythrocytosis. 22367913 2012
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.700 GeneticVariation disease UNIPROT Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline. 19208626 2009
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.700 GeneticVariation disease UNIPROT A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. 18184961 2008
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.700 Biomarker disease GENOMICS_ENGLAND Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. 18378852 2008
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.700 GeneticVariation disease UNIPROT Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. 18378852 2008
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.700 CausalMutation disease CLINVAR
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.700 Biomarker disease CTD_human