Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7428
Gene Symbol: VHL
VHL 		1.000 GeneticVariation disease BEFREE Interestingly, all wild-type VHL tumors (no VHL gene alteration, 11.2%) expressed PD-L1. 27623354 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Genotype-phenotype correlations in Chinese von Hippel-Lindau disease patients. 28388566 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL 		1.000 AlteredExpression disease BEFREE IHC analysis showed no VHL protein expressed in the tumor, consistent with biallelic VHL inactivation. 28503092 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Difference in CXCR4 expression between sporadic and VHL-related hemangioblastoma. 26920352 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Coexistence of VHL Disease and CPT2 Deficiency: A Case Report. 27034144 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL 		1.000 GeneticVariation disease BEFREE Spectrum of vhl gene mutation in the patients corresponds to that of the general VHL population. 26308528 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL 		1.000 Biomarker disease BEFREE Loss of von Hippel Lindau (VHL) protein function is a key driver of VHL diseases, including sporadic and inherited clear cell renal cell carcinoma. 26973240 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL 		1.000 CausalMutation disease CLINVAR Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. 27527340 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL 		1.000 CausalMutation disease CLINVAR Phosphorylation-dependent cleavage regulates von Hippel Lindau proteostasis and function. 26973240 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL 		1.000 GeneticVariation disease BEFREE Our aim was to identify VHL gene mutations in Argentinian patients who fulfilled the clinical criteria for type 1 VHL disease and in patients with VHL-associated manifestations that did not meet these criteria. 27617348 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease CLINVAR Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome. 27527340 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL 		1.000 GeneticVariation disease BEFREE 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 		1.000 GeneticVariation disease BEFREE In addition, most tumors has normal status of VHL gene (methylation, LOH 3p, mutations); however, CCPRCC was referred in patients with VHL syndrome. 26897641 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL 		1.000 GeneticVariation disease BEFREE von Hippel-Lindau (VHL) disease is a rare hereditary tumor syndrome caused by VHL gene mutations that is characterized by heterogeneous phenotypes such as benign/malignant tumors of the central nervous system, retina, kidney, adrenal gland, and pancreas. 27439424 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease BEFREE Since the discovery of the VHL gene in 1993, more than 900 families with VHL have been identified and examined. 27114602 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL 		1.000 GeneticVariation disease BEFREE Mutations in the Von Hippel-Lindau (vhl) gene are responsible for VHL disease, congenital polycythemia, and are found in many sporadic tumor types. 26018559 2015
Entrez Id: 7428
Gene Symbol: VHL
VHL 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease BEFREE Von Hippel-Lindau (VHL) disease is an autosomal dominant syndrome caused by germline mutations in the synonymous VHL gene encoding a tumor suppressor. 25069792 2015
Entrez Id: 7428
Gene Symbol: VHL
VHL 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease BEFREE Von Hippel-Lindau (VHL) disease is a hereditary tumor disorder caused by mutations or deletions of the VHL gene. 25563310 2015