EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 293; N. variants: 35
Disease: Congenital heart disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		0.020 GeneticVariation group BEFREE <i>EPAS1</i> gene is active under hypoxic conditions and plays an essential role in the development of the heart and in the management of the catecholamine balance, mutations of which have been identified in neuroendocrine tumors.In this article, Pan et al. investigated Tibetan patients with and without non-syndromic congenital heart disease. 31015364 2019
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		0.020 GeneticVariation group BEFREE Mutations in EPAS1 in congenital heart disease in Tibetans. 30487161 2018