VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
Disease: ERYTHROCYTOSIS, FAMILIAL, 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5030830
rs5030830
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		C 0.700 CausalMutation CLINVAR Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912 1998