EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 293; N. variants: 35
Disease: Hemangioblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206734
Disease: Hemangioblastoma
Hemangioblastoma 		0.010 GeneticVariation disease BEFREE Somatic gain-of-function HIF2A mutations in sporadic central nervous system hemangioblastomas. 26514359 2016