VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
Disease: Von Hippel-Lindau Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123481
rs398123481
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		G 0.800 GeneticVariation CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151 1995
dbSNP: rs398123481
rs398123481
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151 1995
dbSNP: rs398123481
rs398123481
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		T 0.800 GeneticVariation CLINVAR Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma. 7977367 1994
dbSNP: rs398123481
rs398123481
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. 7987306 1994
dbSNP: rs398123481
rs398123481
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Identification of the von Hippel-Lindau disease tumor suppressor gene. 8493574 1993
dbSNP: rs398123481
rs398123481
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma. 8592333 1995
dbSNP: rs398123481
rs398123481
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan. 8634692 1995
dbSNP: rs398123481
rs398123481
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. 8730290 1996
dbSNP: rs398123481
rs398123481
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. 8825918 1995
dbSNP: rs398123481
rs398123481
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		G 0.800 GeneticVariation CLINVAR Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040 1996
dbSNP: rs398123481
rs398123481
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040 1996
dbSNP: rs398123481
rs398123481
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing. 9452032 1998
dbSNP: rs398123481
rs398123481
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Three novel mutations in the Von Hippel-Lindau tumour suppressor gene in Italian patients. 9452106 1998
dbSNP: rs398123481
rs398123481
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		G 0.800 GeneticVariation CLINVAR Genotype-phenotype correlations in von Hippel-Lindau disease. 9681856 1998
dbSNP: rs398123481
rs398123481
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 9829911 1998
dbSNP: rs398123481
rs398123481
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912 1998
dbSNP: rs398123481
rs398123481
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		T 0.800 CausalMutation CLINVAR Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912 1998
dbSNP: rs398123481
rs398123481
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		T 0.800 GeneticVariation CLINVAR Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912 1998
dbSNP: rs398123481
rs398123481
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC. 10408776 1999
dbSNP: rs398123481
rs398123481
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene. 10533030 1999
dbSNP: rs398123481
rs398123481
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Variable penetrance of familial pheochromocytoma associated with the von Hipple Lindau gene mutation, S68W. Mutations in brief no. 150. Online. 10627136 1998
dbSNP: rs398123481
rs398123481
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.800 GeneticVariation UNIPROT Formation of the VHL-elongin BC tumor suppressor complex is mediated by the chaperonin TRiC. 10635329 1999
dbSNP: rs398123481
rs398123481
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		G 0.800 GeneticVariation CLINVAR "Is the P25L a ""real"" VHL mutation?" 11257211 2001
dbSNP: rs398123481
rs398123481
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		T 0.800 GeneticVariation CLINVAR Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. 12202531 2002
dbSNP: rs398123481
rs398123481
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		T 0.800 CausalMutation CLINVAR Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. 12202531 2002