VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131690964
rs1131690964
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in von Hippel-Lindau disease. 9681856 1998
dbSNP: rs1131690964
rs1131690964
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 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: rs1131690964
rs1131690964
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation 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