EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 293; N. variants: 35
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.070 Biomarker group BEFREE Hypoxia inducible factor 2α (HIF2α/EPAS1) is associated with development of pulmonary hypertension in severe congenital diaphragmatic hernia patients. 29855254 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.070 Biomarker group BEFREE Endothelial HIF-2α contributes to severe pulmonary hypertension due to endothelial-to-mesenchymal transition. 29074488 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.070 Biomarker group BEFREE Pulmonary endothelial deletion of arginase-1, a downstream target of HIF-2α, likewise attenuated many of the pathophysiological symptoms associated with hypoxic pulmonary hypertension. 27432976 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.070 Biomarker group BEFREE Erythrocytosis and pulmonary hypertension in a mouse model of human HIF2A gain of function mutation. 23640890 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.070 AlteredExpression group BEFREE Thus, the balance between HIF-1α and HIF-2α expression in keratinocytes is a control element of both tissue perfusion and systemic arterial pressure, with potential implications in human hypertension. 24101470 2013
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.070 GeneticVariation group BEFREE HIF-2α gain-of-function mutations were associated with pulmonary hypertension, increased cardiac output, increased heart rate, and increased pulmonary ventilation relative to metabolism. 21389259 2011
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.070 Biomarker group BEFREE Furthermore, Hif2a heterozygosity resulted in partial protection against vascular remodeling, hemorrhage, and edema, but not inflammation, in VhlR/R lungs, suggesting a selective role for HIF-2alpha in the pulmonary pathology and thereby providing insight into the mechanisms underlying pulmonary hypertension. 20197624 2010