Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR The positive regulation of p53 by the tumor suppressor VHL. 16969113

2006
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. 22241717

2012
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Inactivation of VHL by tumorigenic mutations that disrupt dynamic coupling of the pVHL.hypoxia-inducible transcription factor-1alpha complex. 15611064

2005
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene. 12114495

2002
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Comparative sequence analysis (CSA): a new sequence-based method for the identification and characterization of mutations in DNA. 11058902

2000
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Genetic testing for cancer predisposition. 11160785

2001
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR VHL type 2B mutations retain VBC complex form and function. 19030229

2008
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes. 19602254

2009
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL. 19228690

2009
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR BAP1 loss defines a new class of renal cell carcinoma. 22683710

2012
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?). 23859443

2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. 9829912

1998
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR De novo VHL germline mutation detected in a patient with mild clinical phenotype of von Hippel-Lindau disease. 24678776

2014
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations. 21715564

2011
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. 14500403

2003
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Systematic comparison of sporadic and syndromic pancreatic islet cell tumors. 20660572

2010
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Circumscribed sebaceous neoplasms: a morphological, immunohistochemical and molecular analysis. 27311873

2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system. 10567493

1999
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Aggregation dynamics and identification of aggregation-prone mutants of the von Hippel-Lindau tumor suppressor protein. 27179072

2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease. 8772572

1996
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation BEFREE Mutations in von Hippel-Lindau tumor suppressor gene (VHL) underlie the VHL hereditary cancer syndrome and also occur in most sporadic clear cell renal cell cancers (CCRCC). 16585181

2006
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma. 27439424

2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours. 24466223

2014
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. 27527340

2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. 7563486

1995