EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 293; N. variants: 35
Disease: Idiopathic pulmonary arterial hypertension ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.320 Biomarker disease BEFREE These findings demonstrate that pharmacological inhibition of HIF-2α is a promising novel therapeutic strategy for the treatment of severe vascular remodeling and right heart failure in patients with PAH. 29924941 2018
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.320 Biomarker disease BEFREE Here we show that pulmonary endothelial HIF-2α is a critical regulator of hypoxia-induced pulmonary arterial hypertension. 27432976 2016
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		0.320 Biomarker disease GENOMICS_ENGLAND Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis. 18378852 2008