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 Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families. 25952756 2015
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR Dissecting fragment-based lead discovery at the von Hippel-Lindau protein:hypoxia inducible factor 1α protein-protein interface. 23102223 2012
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients. 15642680 2005
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR Genetic analysis of von Hippel-Lindau disease. 20151405 2010
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation 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 Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. 7987306 1994
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe. 8707293 1996
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. 12202531 2002
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation. 20567917 2010
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation 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 Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis. 19408298 2009
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR Local-regional recurrence of sporadic or syndromic abdominal extra-adrenal paraganglioma: incidence, characteristics, and outcome. 19958924 2009
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways. 23660872 2013
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease. 17688370 2007
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations. 14722919 2004
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene. 12500216 2003
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR Regulation of E-cadherin expression by VHL and hypoxia-inducible factor. 16585181 2006
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation 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 GeneticVariation group BEFREE Mutations in the von Hippel-Lindau tumour suppressor gene (VHL) cause the VHL hereditary cancer syndrome and occur in most sporadic clear cell renal cell cancers (CC-RCCs). 17973242 2008
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation 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 GeneticVariation group BEFREE Germline mutations of the von Hippel-Lindau tumor suppressor gene (VHL) in humans causes a hereditary cancer syndrome characterized by the development of retinal and central nervous system hemangioblastomas. 11237528 2001
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR Germ-line mutations in nonsyndromic pheochromocytoma. 12000816 2002
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients. 17102082 2006
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis. 25371412 2014
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. 8956040 1996