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: rs5030820
rs5030820
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.700 CausalMutation CLINVAR Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease. 25563310 2015
dbSNP: rs5030820
rs5030820
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.700 CausalMutation CLINVAR Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing. 23512077 2013
dbSNP: rs5030820
rs5030820
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.700 CausalMutation CLINVAR Identification of 3 novel VHL germ-line mutations in Danish VHL patients. 22799452 2012
dbSNP: rs5030820
rs5030820
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 GeneticVariation CLINVAR Genetic analysis of von Hippel-Lindau disease. 20151405 2010
dbSNP: rs5030820
rs5030820
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 GeneticVariation CLINVAR Germline VHL gene mutations in Hungarian families with von Hippel-Lindau disease and patients with apparently sporadic unilateral pheochromocytomas. 19574279 2009
dbSNP: rs5030820
rs5030820
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.700 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau gene in Italian patients. 19464396 2009
dbSNP: rs5030820
rs5030820
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.700 CausalMutation CLINVAR Tumor suppressor von Hippel-Lindau (VHL) stabilization of Jade-1 protein occurs through plant homeodomains and is VHL mutation dependent. 14973063 2004
dbSNP: rs5030820
rs5030820
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions. 15300849 2004
dbSNP: rs5030820
rs5030820
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.700 CausalMutation CLINVAR Germ-line mutations in nonsyndromic pheochromocytoma. 12000816 2002
dbSNP: rs5030820
rs5030820
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 GeneticVariation CLINVAR Molecular pathology of von HippelLindau disease and the VHL tumour suppressor gene. 14987375 2001
dbSNP: rs5030820
rs5030820
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.700 CausalMutation CLINVAR Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912 1998
dbSNP: rs5030820
rs5030820
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.700 CausalMutation CLINVAR Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 9829911 1998
dbSNP: rs5030820
rs5030820
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 GeneticVariation CLINVAR Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. 7987306 1994
dbSNP: rs5030820
rs5030820
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		T 0.700 CausalMutation CLINVAR Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. 7987306 1994