EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 293; N. variants: 35
Disease: High altitude pulmonary edema ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340100
Disease: High altitude pulmonary edema
High altitude pulmonary edema 		0.010 GeneticVariation disease BEFREE The EPAS1 chr2:46441523(hg18) polymorphism C is strongly associated with susceptibility to HAPE in Han Chinese, and the EPAS1 chr2:46441523(hg18) polymorphism G is present at high frequency and may be associated with high altitude adaptation in the Tibetans. 24041620 2013