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 "Is the P25L a ""real"" VHL mutation?" 11257211 2001
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR A Case of von Hippel-Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas. 25715769 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR A novel mutation in the von Hippel-Lindau gene. 7987327 1994
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 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 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 		0.180 GeneticVariation group CLINVAR An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma. 24969085 2014
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 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 CausalMutation group CLINVAR Bilateral pheochromocytoma as first presentation of von Hippel-Lindau disease in a Chinese family. 20120764 2009
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 Calculating optimal surveillance for detection of von Hippel-Lindau-related manifestations. 24132471 2014
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation. 21389259 2011
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR Cellular proteins that bind the von Hippel-Lindau disease gene product: mapping of binding domains and the effect of missense mutations. 7553625 1995
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 GeneticVariation group CLINVAR Characterization of a von Hippel Lindau pathway involved in extracellular matrix remodeling, cell invasion, and angiogenesis. 16452184 2006
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry. 25867206 2016
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 Biomarker group BEFREE Chuvash polycythaemia has recently been defined as a new form of VHL-associated disease, distinct from the classical VHL-associated inherited cancer syndrome, in which germline homozygosity for a hypomorphic VHL allele causes a generalised abnormality in VHL-HIF signalling. 16768548 2006
Entrez Id: 7428
Gene Symbol: VHL
VHL 		0.180 CausalMutation group CLINVAR Chuvash polycythemia VHLR200W mutation is associated with down-regulation of hepcidin expression. 21876117 2011
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 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 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 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 CausalMutation group CLINVAR Clinical features of pancreatic involvement in von Hippel-Lindau disease: a retrospective study of 55 cases in a single center. 25562111 2015
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