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 GeneticVariation group CLINVAR The positive regulation of p53 by the tumor suppressor VHL. 16969113 2006
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR Higher prevalence of novel mutations in VHL gene in Chinese Von Hippel-Lindau disease patients. 24581539 2014
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families. 10761708 2000
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. 22241717 2012
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR Pulmonary artery pressure and iron deficiency in patients with upregulation of hypoxia sensing due to homozygous VHL(R200W) mutation (Chuvash polycythemia). 21993671 2012
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. 11331612 2001
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease. 24555745 2014
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations. 15574766 2004
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group 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 		0.180 CausalMutation group 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 		0.180 CausalMutation group CLINVAR A Novel von Hippel Lindau Gene Intronic Variant and Its Reclassification from VUS to Pathogenic: the Impact on a Large Family. 26323595 2015
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group 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 		0.180 GeneticVariation group 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 		0.180 GeneticVariation group 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 		0.180 CausalMutation group CLINVAR Clinical management of pheochromocytoma and paraganglioma in Singapore: missed opportunities for genetic testing. 28944243 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 Biomarker group LHGDN Molecular basis of the VHL hereditary cancer syndrome. 12209156 2002
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. 27527340 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR Genetic testing for cancer predisposition. 11160785 2001
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR The Roles of VHL-Dependent Ubiquitination in Signaling and Cancer. 22649785 2012
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