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: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		0.810 GeneticVariation BEFREE DNA sequence analysis showed two VHL gene mutations, P25L and P86R, in an individual with a clinical diagnosis of VHL disease. 11257211 2001
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		G 0.810 CausalMutation CLINVAR Coexistence of VHL Disease and CPT2 Deficiency: A Case Report. 27034144 2016
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		G 0.810 CausalMutation CLINVAR Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 9829911 1998
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		T 0.810 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families. 18446368 2008
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		G 0.810 CausalMutation CLINVAR Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family. 27057652 2016
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		G 0.810 CausalMutation CLINVAR Genotype-phenotype correlations in von Hippel-Lindau disease. 17024664 2007
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		T 0.810 CausalMutation CLINVAR Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease. 17688370 2007
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		G 0.810 GeneticVariation CLINVAR
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		G 0.810 CausalMutation CLINVAR Identification of 3 novel VHL germ-line mutations in Danish VHL patients. 22799452 2012
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		T 0.810 CausalMutation CLINVAR Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families. 10761708 2000
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		T 0.810 CausalMutation CLINVAR [Germ line mutations in Chinese kindreds with von Hippel-Lindau syndrome]. 17407064 2007
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		T 0.810 CausalMutation CLINVAR Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer. 16488999 2006
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		T 0.810 CausalMutation CLINVAR Mutations of the VHL tumour suppressor gene in renal carcinoma. 7915601 1994
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		T 0.810 CausalMutation CLINVAR A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma. 18584357 2008
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		T 0.810 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151 1995
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		T 0.810 CausalMutation CLINVAR Molecular genetic analysis of von Hippel-Lindau disease by denaturing high-performance liquid chromatography. 11688398 2001
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		G 0.810 CausalMutation CLINVAR DNA sequence analysis showed two VHL gene mutations, P25L and P86R, in an individual with a clinical diagnosis of VHL disease. 11257211 2001
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		G 0.810 CausalMutation CLINVAR Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912 1998
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		T 0.810 CausalMutation CLINVAR Trichloroethylene exposure and specific somatic mutations in patients with renal cell carcinoma. 10340905 1999
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		G 0.810 CausalMutation CLINVAR Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. 27527340 2016
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		T 0.810 CausalMutation CLINVAR A family with hydrocephalus as a complication of cerebellar hemangioblastoma: identification of Pro157Leu mutation in the VHL gene. 10697963 2000
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		G 0.810 CausalMutation CLINVAR Clinical and genetic analysis of patients with pancreatic neuroendocrine tumors associated with von Hippel-Lindau disease. 11114638 2000
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		T 0.810 CausalMutation CLINVAR 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: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		T 0.810 CausalMutation CLINVAR Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040 1996
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease:
Von Hippel-Lindau Syndrome 		G 0.810 CausalMutation CLINVAR Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis. 19408298 2009