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 Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors. 29748190

2018

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 CausalMutation CLINVAR Genotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience. 28469506

2017

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 CausalMutation CLINVAR Differences in genetic and epigenetic alterations between von Hippel-Lindau disease-related and sporadic hemangioblastomas of the central nervous system. 28379443

2017

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 CausalMutation CLINVAR Genotype-phenotype correlations in Chinese von Hippel-Lindau disease patients. 28388566

2017

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 CausalMutation 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
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 CausalMutation CLINVAR Difference in CXCR4 expression between sporadic and VHL-related hemangioblastoma. 26920352

2016

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 CausalMutation 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
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 CausalMutation CLINVAR Coexistence of VHL Disease and CPT2 Deficiency: A Case Report. 27034144

2016

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 CausalMutation CLINVAR Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. 27527340

2016

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 CausalMutation CLINVAR Phosphorylation-dependent cleavage regulates von Hippel Lindau proteostasis and function. 26973240

2016

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 CausalMutation CLINVAR Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family. 27057652

2016

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 GeneticVariation CLINVAR Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. 27527340

2016

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 CausalMutation 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
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 GeneticVariation CLINVAR Metastatic phaeochromocytoma in a 23-year-old woman with an unclassified variant in the von Hippel Lindau disease gene: how can the pathogenicity of this variant be determined? 25557216

2015

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 CausalMutation CLINVAR Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease. 25563310

2015

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 CausalMutation 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
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 CausalMutation CLINVAR GESPA: classifying nsSNPs to predict disease association. 26206375

2015

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 CausalMutation CLINVAR E2-EPF UCP regulates stability and functions of missense mutant pVHL via ubiquitin mediated proteolysis. 26503325

2015

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 CausalMutation CLINVAR Persistent exudative retinal detachment after photodynamic therapy and intravitreal bevacizumab injection for multiple retinal capillary hemangiomas in a patient with von Hippel-Lindau disease. 24206762

2014

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 CausalMutation CLINVAR Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease. 25078357

2014

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 CausalMutation CLINVAR Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis. 25371412

2014

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 CausalMutation CLINVAR Clinical presentation of Von Hippel Lindau syndrome type 2B associated with VHL p.A149S mutation in a large Turkish family. 23673869

2014

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 CausalMutation CLINVAR Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel-Lindau disease. 24707167

2014

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 CausalMutation CLINVAR VHL and HIF-1α: gene variations and prognosis in early-stage clear cell renal cell carcinoma. 24446253

2014

Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
1.000 CausalMutation CLINVAR Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease. 24555745

2014