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: rs794726890
rs794726890
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.700 CausalMutation CLINVAR Phosphorylation-dependent cleavage regulates von Hippel Lindau proteostasis and function. 26973240 2016
dbSNP: rs794726890
rs794726890
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.700 CausalMutation CLINVAR Bilateral pheochromocytomas in a child who had hemihypertrophy and alteration in the VHL gene. 23327821 2013
dbSNP: rs794726890
rs794726890
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.700 CausalMutation CLINVAR P.Arg82Leu von Hippel-Lindau (VHL) gene mutation among three members of a family with familial bilateral pheochromocytoma in India: molecular analysis and in silico characterization. 23626751 2013
dbSNP: rs794726890
rs794726890
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.700 CausalMutation CLINVAR Clinical and molecular features of familial and sporadic cases of von Hippel-Lindau disease from Mexico. 20447124 2010
dbSNP: rs794726890
rs794726890
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.700 CausalMutation CLINVAR A type 2B von Hippel-Lindau family masquerading as a metastatic sporadic renal cell carcinoma. 12603429 2003
dbSNP: rs794726890
rs794726890
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.700 CausalMutation CLINVAR Ubiquitination of a novel deubiquitinating enzyme requires direct binding to von Hippel-Lindau tumor suppressor protein. 11739384 2002
dbSNP: rs794726890
rs794726890
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.700 CausalMutation CLINVAR Hypoxia inducible factor-alpha binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein. 10823831 2000