Gene: VHL ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees. 23842656 2013
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group 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 		0.180 CausalMutation group CLINVAR Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. 7728151 1995
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel-Lindau disease. 24707167 2014
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR VHL type 2B mutations retain VBC complex form and function. 19030229 2008
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR Phosphorylation of von Hippel-Lindau protein by checkpoint kinase 2 regulates p53 transactivation. 22071692 2011
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group 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 		0.180 GeneticVariation group 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 		0.180 GeneticVariation group 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 		0.180 GeneticVariation group CLINVAR BAP1 loss defines a new class of renal cell carcinoma. 22683710 2012
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group 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 		0.180 CausalMutation group CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381 2015
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group 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 		0.180 GeneticVariation group 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 		0.180 CausalMutation group 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 		0.180 GeneticVariation group 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 		0.180 GeneticVariation group 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 		0.180 GeneticVariation group CLINVAR Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. 14500403 2003
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR Structure of an HIF-1alpha -pVHL complex: hydroxyproline recognition in signaling. 12004076 2002
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR Systematic comparison of sporadic and syndromic pancreatic islet cell tumors. 20660572 2010
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR Endemic polycythemia in Russia: mutation in the VHL gene. 11987242 2003
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR Circumscribed sebaceous neoplasms: a morphological, immunohistochemical and molecular analysis. 27311873 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group 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 		0.180 CausalMutation group CLINVAR Identification of 3 novel VHL germ-line mutations in Danish VHL patients. 22799452 2012
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR A novel mutation in the von Hippel-Lindau gene. 7987327 1994