Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4 		0.700 GeneticVariation UNIPROT Two new mutations in the HIF2A gene associated with erythrocytosis. 22367913

2012
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4 		0.700 GeneticVariation 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
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4 		0.700 GeneticVariation UNIPROT A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. 18184961

2008
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4 		0.700 Biomarker GENOMICS_ENGLAND Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. 18378852

2008
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4 		0.700 GeneticVariation UNIPROT Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. 18378852

2008
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4 		0.700 CausalMutation CLINVAR

Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C2673187
Disease: Erythrocytosis, Familial, 4
Erythrocytosis, Familial, 4 		0.700 Biomarker CTD_human