EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 14; N. variants: 24
Disease: Pulmonary arterial hypertension ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.320 Biomarker disease GENOMICS_ENGLAND Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. 18378852 2008