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: rs5030824
rs5030824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.800 CausalMutation CLINVAR Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia. 23772956 2013
dbSNP: rs5030824
rs5030824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.800 CausalMutation CLINVAR VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL. 19228690 2009
dbSNP: rs5030824
rs5030824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.800 CausalMutation CLINVAR Inadequate activation of the GTPase RhoA contributes to the lack of fibronectin matrix assembly in von Hippel-Lindau protein-defective renal cancer cells. 18567581 2008
dbSNP: rs5030824
rs5030824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.800 CausalMutation CLINVAR Characterization of a von Hippel Lindau pathway involved in extracellular matrix remodeling, cell invasion, and angiogenesis. 16452184 2006
dbSNP: rs5030824
rs5030824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.800 CausalMutation CLINVAR Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients. 15642680 2005
dbSNP: rs5030824
rs5030824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.800 CausalMutation CLINVAR Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia. 12844285 2003
dbSNP: rs5030824
rs5030824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.800 CausalMutation CLINVAR von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. 11331612 2001
dbSNP: rs5030824
rs5030824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.800 CausalMutation CLINVAR Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease. 8772572 1996
dbSNP: rs5030824
rs5030824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.800 CausalMutation CLINVAR Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. 7563486 1995
dbSNP: rs5030824
rs5030824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.800 CausalMutation CLINVAR Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. 7987306 1994
dbSNP: rs5030824
rs5030824
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		0.800 GeneticVariation UNIPROT