VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		0.100 Biomarker phenotype HPO
CUI: C4022001
Disease: Abnormality of the cerebral vasculature
Abnormality of the cerebral vasculature 		0.100 Biomarker disease HPO
CUI: C4021780
Disease: Abnormality of the liver
Abnormality of the liver 		0.100 Biomarker phenotype HPO
CUI: C4021976
Disease: Abnormality of the lymphatic system
Abnormality of the lymphatic system 		0.100 Biomarker disease HPO
CUI: C0206685
Disease: Acinar Cell Carcinoma
Acinar Cell Carcinoma 		0.010 GeneticVariation disease BEFREE One example is the loss of heterozygosity at the von Hippel-Lindau (VHL) gene locus in both wild type and hereditary serous cystadenomas, and another is the virtual absence of K-ras mutation and p53 abnormalities in acinar cell carcinomas, whereas both are frequently found in ductal adenocarcinomas. 10415852 1999
CUI: C1301357
Disease: Acute Leukemia of Ambiguous Lineage
Acute Leukemia of Ambiguous Lineage 		0.100 CausalMutation disease CLINVAR
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		0.010 GeneticVariation disease BEFREE In this study, methylation-specific polymerase chain reaction (MSP) was used to define the methylation status of a panel of nine genes, comprising p15, p16, RARbeta, oestrogen receptor (ER), E-cadherin (E-CAD), p73, caspase 8 (CASP8), VHL and MGMT, in 29 patients with APL. 12899712 2003
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.040 GeneticVariation group BEFREE One example is the loss of heterozygosity at the von Hippel-Lindau (VHL) gene locus in both wild type and hereditary serous cystadenomas, and another is the virtual absence of K-ras mutation and p53 abnormalities in acinar cell carcinomas, whereas both are frequently found in ductal adenocarcinomas. 10415852 1999
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.040 Biomarker group LHGDN Diagnostic utility of S100P and von Hippel-Lindau gene product (pVHL) in pancreatic adenocarcinoma-with implication of their roles in early tumorigenesis. 18162774 2008
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.040 PosttranslationalModification group BEFREE In this study, in order to investigate whether the VHL gene is involved in gastric carcinogenesis, we have examined the genetic alterations, including somatic mutations and allelic loss, with the two microsatellite markers, D3S1038 and D3S1110, as well as promoter hypermethylation of the VHL gene in 88 sporadic gastric adenocarcinomas. 18607865 2008
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.040 Biomarker group BEFREE The incidence of LOH at D17S938 (p53 gene) and D3S4545 (VHL gene) was significantly higher in squamous carcinoma tumors than in adenocarcinoma tumors (P = 0.003 and 0.024, respectively). 12518864 2002
CUI: C1332243
Disease: Adenocarcinoma of ampulla of Vater
Adenocarcinoma of ampulla of Vater 		0.300 Biomarker disease GENOMICS_ENGLAND Genetic predisposition to kidney cancer. 27899189 2016
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.010 GeneticVariation disease BEFREE We herein describe the case of a 74-year-old man carrying the VHL gene mutation who was affected by simultaneous colorectal adenocarcinoma, renal clear cell carcinoma, and hemangioblastomas of CNS. 25715769 2016
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 Biomarker disease BEFREE These findings suggest that EGFR gain and VHL loss are associated with poor overall survival for lung adenocarcinoma patients and may be used as prognostic markers. 21556796 2011
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell 		0.040 GeneticVariation disease BEFREE The relationship between the VHL gene and clear cell carcinoma, MET and papillary carcinoma, and the families of genes that they regulate, continues to be unraveled. 11493766 2001
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell 		0.040 GeneticVariation disease BEFREE It exhibits a different molecular signature than clear-cell carcinoma and is typically not associated with mutations in the VHL (von Hippel-Lindau) tumor suppressor gene. pRCC is less responsive to modern drugs introduced in the management of kidney cancer in the past decade. 24629521 2014
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell 		0.040 GeneticVariation disease BEFREE The percentage of vhl gene mutations in sporadic renal cell carcinoma was relatively low, mutations were seen more often in clear cell carcinoma and were not related to the classic clinical prognostic factors. 16387411 2006
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell 		0.040 GeneticVariation disease BEFREE Additional molecular genetic testing revealed somatic mutations and epigenetic events in genes typically associated with these specific histologic tumor types: oncocytoma harbored a second FLCN mutation (intron 12, IVS12+4 C>T), oncocytic papillary carcinoma harbored promoter methylation of FLCN, and a missense mutation in the MET gene (P246L), whereas clear cell carcinoma harbored inactivating VHL mutation (5-base pair deletion in exon 2) and VHL gene promoter methylation. 19733897 2009
CUI: C0001430
Disease: Adenoma
Adenoma 		0.350 GeneticVariation group BEFREE Results of an analysis of sporadic patients with multiple renal tumours indicate an association of allelic losses of the VHL and 3p12-p14 regions with adenomas and suggest that losses of the 3p21 region are necessary for malignant development to clear cell or nonpapillary RCC. 9171996 1997
CUI: C0001430
Disease: Adenoma
Adenoma 		0.350 GeneticVariation group BEFREE However, genetic alterations of the VHL gene in MCAs of the pancreas have never been reported. 9327728 1997
CUI: C0001430
Disease: Adenoma
Adenoma 		0.350 GeneticVariation group BEFREE Irrespective of showing loss or retention of the 3p25 region, none of the adenomas had a VHL mutation. 9258657 1997
CUI: C0001430
Disease: Adenoma
Adenoma 		0.350 GeneticVariation group BEFREE The authors have analyzed VHL gene alterations on chromosome 3p in sporadic human colon carcinomas and adenomas using modified microdissection techniques. 8617456 1996
CUI: C0001430
Disease: Adenoma
Adenoma 		0.350 GeneticVariation group BEFREE No adenoma showed LOH of the vHL gene markers studied. 9744312 1998
CUI: C0001430
Disease: Adenoma
Adenoma 		0.350 Biomarker group CTD_human Lung cancer susceptibility in Fhit-deficient mice is increased by Vhl haploinsufficiency. 16061637 2005
CUI: C0205646
Disease: Adenoma, Basal Cell
Adenoma, Basal Cell 		0.300 Biomarker disease CTD_human Lung cancer susceptibility in Fhit-deficient mice is increased by Vhl haploinsufficiency. 16061637 2005