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 Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster. 16210343 2006
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 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 CausalMutation group CLINVAR von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis. 17992257 2007
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR von Hippel-Lindau gene mutation in non-syndromic familial pheochromocytomas. 17102088 2006
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 VHL type 2B mutations retain VBC complex form and function. 19030229 2008
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 CausalMutation group CLINVAR VHL mutations in renal cell cancer: does occupational exposure to trichloroethylene make a difference? 15177666 2004
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR VHL mutation analysis in patients with isolated central nervous system haemangioblastoma. 17264095 2007
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype. 24301059 2014
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease. 27617348 2016
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 CausalMutation group CLINVAR VHL frameshift mutation as target of nonsense-mediated mRNA decay in Drosophila melanogaster and human HEK293 cell line. 20145706 2009
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR VHL alterations in human clear cell renal cell carcinoma: association with advanced tumor stage and a novel hot spot mutation. 10766184 2000
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR Unique molecular alteration patterns in von Hippel-Lindau (VHL) gene in a cohort of sporadic renal cell carcinoma patients from Pakistan. 24727139 2015
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR Unique molecular alteration patterns in von Hippel-Lindau (VHL) gene in a cohort of sporadic renal cell carcinoma patients from Pakistan. 24727139 2015
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR Tumorigenic mutations in VHL disrupt folding in vivo by interfering with chaperonin binding. 14636579 2003
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma. 17997830 2007
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma. 23298237 2013
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma. 23298237 2013
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR The worldwide distribution of the VHL 598C>T mutation indicates a single founding event. 14604959 2004
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR The Warburg effect is genetically determined in inherited pheochromocytomas. 19763184 2009
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma. 16502427 2006
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR The Roles of VHL-Dependent Ubiquitination in Signaling and Cancer. 22649785 2012