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 CausalMutation CLINVAR Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification. 17661816

2007
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 CausalMutation CLINVAR Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients. 22357542

2012
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381

2015
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 CausalMutation CLINVAR Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance. 27530247

2016
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 Biomarker BEFREE Other cancer-related genes linked to hereditary cancer syndromes include VHL, MLH1, XPC, and RB1. 16652080

2006
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 CausalMutation CLINVAR Structure of an HIF-1alpha -pVHL complex: hydroxyproline recognition in signaling. 12004076

2002
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 CausalMutation CLINVAR Endemic polycythemia in Russia: mutation in the VHL gene. 11987242

2003
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 CausalMutation CLINVAR Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis. 19270817

2009
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Identification of 3 novel VHL germ-line mutations in Danish VHL patients. 22799452

2012
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR A novel mutation in the von Hippel-Lindau gene. 7987327

1994
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 CausalMutation CLINVAR Clinical presentation of Von Hippel Lindau syndrome type 2B associated with VHL p.A149S mutation in a large Turkish family. 23673869

2014
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC. 10408776

1999
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. 19336503

2009