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: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. 27527340 2016
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours. 24466223 2014
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis. 25371412 2014
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel-Lindau disease. 24707167 2014
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees. 23842656 2013
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Bilateral pheochromocytoma as first presentation of von Hippel-Lindau disease in a Chinese family. 20120764 2009
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Germ-line mutations in nonsyndromic pheochromocytoma. 12000816 2002
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL. 9215674 1997
dbSNP: rs730882035
rs730882035
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151 1995