VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587780077
rs587780077
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Clinical presentation of Von Hippel Lindau syndrome type 2B associated with VHL p.A149S mutation in a large Turkish family. 23673869 2014
dbSNP: rs587780077
rs587780077
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Proteostasis modulators prolong missense VHL protein activity and halt tumor progression. 23318261 2013
dbSNP: rs587780077
rs587780077
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Pheochromocytoma in von Hippel-Lindau disease: clinical presentation and mutation analysis in a large, multigenerational kindred. 9435426 1998