Source: ALL

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 Higher prevalence of novel mutations in VHL gene in Chinese Von Hippel-Lindau disease patients. 24581539

2014
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease. 24555745

2014
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR De novo VHL germline mutation detected in a patient with mild clinical phenotype of von Hippel-Lindau disease. 24678776

2014
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours. 24466223

2014
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327

2014
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours. 24466223

2014
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR The homozygous VHL(D126N) missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension. 24729484

2014
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR In Silico Analysis Identification of a Novel Germ-Line VHL Mutation in a Patient of Malignant Pheochromocytoma. 24518179

2014
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Calculating optimal surveillance for detection of von Hippel-Lindau-related manifestations. 24132471

2014
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Detection of large deletions in the VHL gene using a Real-Time PCR with SYBR Green. 23397066

2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma. 23298237

2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation CLINVAR Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma. 23298237

2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 GeneticVariation 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: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.180 CausalMutation CLINVAR Proteostasis modulators prolong missense VHL protein activity and halt tumor progression. 23318261

2013