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: rs1267580705
rs1267580705
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE We showed that the protein levels of VHL-R167Q dictate its ability to downregulate HIF2α and suppress tumor growth. 24755468 2014