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: rs1553619431
rs1553619431
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		C 0.700 CausalMutation CLINVAR Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance. 27530247 2016
dbSNP: rs1553619431
rs1553619431
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		A 0.700 CausalMutation CLINVAR VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations. 21715564 2011
dbSNP: rs1553619431
rs1553619431
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		C 0.700 CausalMutation CLINVAR VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations. 21715564 2011
dbSNP: rs1553619431
rs1553619431
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		C 0.700 CausalMutation CLINVAR Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma. 19996202 2009
dbSNP: rs1553619431
rs1553619431
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		A 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in von Hippel-Lindau disease. 17024664 2007
dbSNP: rs1553619431
rs1553619431
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		A 0.700 CausalMutation CLINVAR Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease. 17688370 2007
dbSNP: rs1553619431
rs1553619431
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		C 0.700 CausalMutation CLINVAR Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease. 17688370 2007
dbSNP: rs1553619431
rs1553619431
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		C 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in von Hippel-Lindau disease. 17024664 2007
dbSNP: rs1553619431
rs1553619431
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		C 0.700 CausalMutation CLINVAR High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil. 12624160 2003
dbSNP: rs1553619431
rs1553619431
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		A 0.700 CausalMutation CLINVAR High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil. 12624160 2003
dbSNP: rs1553619431
rs1553619431
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		C 0.700 CausalMutation CLINVAR Reconsideration of biallelic inactivation of the VHL tumour suppressor gene in hemangioblastomas of the central nervous system. 11309459 2001
dbSNP: rs1553619431
rs1553619431
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		C 0.700 CausalMutation CLINVAR The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system. 10567493 1999
dbSNP: rs1553619431
rs1553619431
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		A 0.700 CausalMutation CLINVAR The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system. 10567493 1999
dbSNP: rs1553619431
rs1553619431
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		A 0.700 CausalMutation CLINVAR Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040 1996
dbSNP: rs1553619431
rs1553619431
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		C 0.700 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151 1995
dbSNP: rs1553619431
rs1553619431
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		A 0.700 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151 1995