EPAS1, endothelial PAS domain protein 1, 2034

N. diseases: 293; N. variants: 35
Disease: Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150797491
rs150797491
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE We show that this is a gain-of-function mutation and demonstrate no loss-of-heterozygosity or additional somatic mutation of HIF2A in the tumor, indicating HIF2A (F374Y) may be predisposing rather than causative of PHEO/PGL. 23090011 2013