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: rs397516441
rs397516441
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Calculating optimal surveillance for detection of von Hippel-Lindau-related manifestations. 24132471 2014
dbSNP: rs397516441
rs397516441
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Systematic comparison of sporadic and syndromic pancreatic islet cell tumors. 20660572 2010
dbSNP: rs397516441
rs397516441
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Germline VHL gene mutations in Hungarian families with von Hippel-Lindau disease and patients with apparently sporadic unilateral pheochromocytomas. 19574279 2009
dbSNP: rs397516441
rs397516441
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Local-regional recurrence of sporadic or syndromic abdominal extra-adrenal paraganglioma: incidence, characteristics, and outcome. 19958924 2009
dbSNP: rs397516441
rs397516441
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. 19336503 2009
dbSNP: rs397516441
rs397516441
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation? 19029228 2009
dbSNP: rs397516441
rs397516441
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR The Warburg effect is genetically determined in inherited pheochromocytomas. 19763184 2009
dbSNP: rs397516441
rs397516441
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Genetic testing in pheochromocytoma or functional paraganglioma. 16314641 2005
dbSNP: rs397516441
rs397516441
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions. 15300849 2004
dbSNP: rs397516441
rs397516441
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. 14500403 2003
dbSNP: rs397516441
rs397516441
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Germ-line mutations in nonsyndromic pheochromocytoma. 12000816 2002
dbSNP: rs397516441
rs397516441
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. 12202531 2002
dbSNP: rs397516441
rs397516441
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912 1998