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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Clinical management of pheochromocytoma and paraganglioma in Singapore: missed opportunities for genetic testing. 28944243

2017
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Circumscribed sebaceous neoplasms: a morphological, immunohistochemical and molecular analysis. 27311873

2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma. 27811160

2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations. 27651169

2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma. 27539324

2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381

2015
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families. 25952756

2015
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Sunitinib treatment for multifocal renal cell carcinoma (RCC) and pancreatic neuroendocrine tumor (NET) in patient with Von Hippel-Lindau disease. Case Report. 26812297

2015
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T). 25720320

2015
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Insights into Cullin-RING E3 ubiquitin ligase recruitment: structure of the VHL-EloBC-Cul2 complex. 25661653

2015
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families. 25952756

2015
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Unique molecular alteration patterns in von Hippel-Lindau (VHL) gene in a cohort of sporadic renal cell carcinoma patients from Pakistan. 24727139

2015