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: rs5030832
rs5030832
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 GeneticVariation CLINVAR Metastatic phaeochromocytoma in a 23-year-old woman with an unclassified variant in the von Hippel Lindau disease gene: how can the pathogenicity of this variant be determined? 25557216 2015
dbSNP: rs5030832
rs5030832
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 GeneticVariation CLINVAR VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations. 21715564 2011
dbSNP: rs5030832
rs5030832
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 GeneticVariation CLINVAR Systematic comparison of sporadic and syndromic pancreatic islet cell tumors. 20660572 2010
dbSNP: rs5030832
rs5030832
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 GeneticVariation CLINVAR Cancer-causing mutations in a novel transcription-dependent nuclear export motif of VHL abrogate oxygen-dependent degradation of hypoxia-inducible factor. 17967880 2008
dbSNP: rs5030832
rs5030832
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 GeneticVariation CLINVAR Von Hippel-Lindau disease germline mutations in Mexican patients with cerebellar hemangioblastoma. 16572651 2006
dbSNP: rs5030832
rs5030832
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 GeneticVariation CLINVAR Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas. 16142346 2005
dbSNP: rs5030832
rs5030832
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 GeneticVariation CLINVAR Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions. 15300849 2004
dbSNP: rs5030832
rs5030832
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 GeneticVariation CLINVAR Diverse effects of mutations in exon II of the von Hippel-Lindau (VHL) tumor suppressor gene on the interaction of pVHL with the cytosolic chaperonin and pVHL-dependent ubiquitin ligase activity. 11865071 2002
dbSNP: rs5030832
rs5030832
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 GeneticVariation CLINVAR DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations. 11409863 2001
dbSNP: rs5030832
rs5030832
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in von Hippel-Lindau disease. 9681856 1998
dbSNP: rs5030832
rs5030832
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 GeneticVariation CLINVAR Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040 1996
dbSNP: rs5030832
rs5030832
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C1837915
Disease:
ERYTHROCYTOSIS, FAMILIAL, 2 		G 0.700 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