Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation 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
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation CLINVAR Bilateral pheochromocytoma/intra-adrenal paraganglioma in von Hippel-Lindau patient causing acute myocardial infarction. 25119015

2014
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation 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
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation CLINVAR P.Arg82Leu von Hippel-Lindau (VHL) gene mutation among three members of a family with familial bilateral pheochromocytoma in India: molecular analysis and in silico characterization. 23626751

2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation CLINVAR Prospective study assessing hypoxia-related proteins as markers for the outcome of treatment with sunitinib in advanced clear-cell renal cell carcinoma. 23788753

2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation CLINVAR Bilateral pheochromocytomas in a child who had hemihypertrophy and alteration in the VHL gene. 23327821

2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation CLINVAR Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia. 23772956

2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation CLINVAR Hemangioblastomas and neurogenic polyglobulia. 23407287

2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation CLINVAR Proteostasis modulators prolong missense VHL protein activity and halt tumor progression. 23318261

2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation CLINVAR Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing. 23512077

2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 GeneticVariation CLINVAR Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia. 23772956

2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation CLINVAR Novel three missense mutations observed in Von Hippel-Lindau gene in a patient reported with renal cell carcinoma. 24339559

2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation 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
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation 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
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation CLINVAR A deletion mutation of the VHL gene associated with a patient with sporadic von Hippel-Lindau disease. 23632291

2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation CLINVAR Clinical and pathologic impact of select chromatin-modulating tumor suppressors in clear cell renal cell carcinoma. 23036577

2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation CLINVAR Combined mutation of Vhl and Trp53 causes renal cysts and tumours in mice. 23606570

2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation CLINVAR Structural insights into the folding defects of oncogenic pVHL lead to correction of its function in vitro. 23840444

2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation CLINVAR Identification of 3 novel VHL germ-line mutations in Danish VHL patients. 22799452

2012
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation CLINVAR BAP1 loss defines a new class of renal cell carcinoma. 22683710

2012
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation CLINVAR Growth kinetics in von Hippel-Lindau-associated renal cell carcinoma. 22156657

2012
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation CLINVAR Effects of point mutations in pVHL on the binding of HIF-1α. 22105711

2012
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 GeneticVariation 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
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 CausalMutation 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
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		1.000 GeneticVariation CLINVAR Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma. 22825683

2012