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: rs1553620318
rs1553620318
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma. 27811160 2016
dbSNP: rs1553620318
rs1553620318
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Dissecting fragment-based lead discovery at the von Hippel-Lindau protein:hypoxia inducible factor 1α protein-protein interface. 23102223 2012
dbSNP: rs1553620318
rs1553620318
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis. 19270817 2009
dbSNP: rs1553620318
rs1553620318
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR von Hippel-Lindau gene mutation in non-syndromic familial pheochromocytomas. 17102088 2006
dbSNP: rs1553620318
rs1553620318
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Familial isolated pheochromocytoma presenting a new mutation in the von Hippel-Lindau gene. 15607616 2004