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: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 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: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 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: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 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: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 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: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 CausalMutation CLINVAR Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis. 19408298 2009
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in von Hippel-Lindau disease. 17024664 2007
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 CausalMutation CLINVAR "Is the P25L a ""real"" VHL mutation?" 11257211 2001
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 CausalMutation CLINVAR Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function. 10205047 1999
dbSNP: rs730882034
rs730882034
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 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: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 CausalMutation CLINVAR Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. 9829911 1998