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: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.900 AlteredExpression disease BEFREE In this study, we aimed to investigate the relation between the mRNA expression levels of VHL, TIMP-3 and RASSF1A genes, and the histopathological and clinical characteristics of patients with renal tumors. 31773698 2019
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.900 GeneticVariation disease BEFREE We also confirmed the presence of specific VHL mutations in ctDNA derived from RCC xenografts indicating the capability of renal tumors to release DNA into the blood circulation. 28214514 2017
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.900 PosttranslationalModification disease BEFREE VHL inactivation is the most established molecular characteristic of clear cell renal cell carcinoma (ccRCC), with only a few additional genes implicated in development of this kidney tumor. 26169495 2015
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.900 GeneticVariation disease BEFREE The majority of renal tumors in adults are clear cell renal cell carcinomas, which are characterized by von Hippel- Lindau (VHL) gene alterations. 25619751 2015
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.900 AlteredExpression disease BEFREE Clear cell renal cell carcinomas (ccRCCs) are characterized by biallelic loss of the von Hippel-Lindau tumor suppressor and subsequent constitutive activation of the hypoxia-inducible factors, whose transcriptional programs dictate major phenotypic attributes of kidney tumors. 24356968 2014
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.900 GeneticVariation disease BEFREE Re-evaluation of histological type by immunohistochemical and genetic study of transcription factors (TFE3 and TFEB) of VHL gene mutation-negative clear cell renal cell carcinoma and other special types of renal tumor. 21424937 2011
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.900 AlteredExpression disease LHGDN [Inactivation of the VHL gene in sporadic clear cell renal cancer]. 18389622 2008
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.900 GeneticVariation disease LHGDN Hypoxia-inducible factor linked to differential kidney cancer risk seen with type 2A and type 2B VHL mutations. 17526729 2007
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.900 Biomarker disease BEFREE The mechanism of renal tumor suppression by VHL protein is only partly elucidated. 14973063 2004
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.900 Biomarker disease BEFREE The anti-pVHL(30)/pVHL(19) antibody showed nuclear and cytoplasmic pVHL expression, whereas the anti-pVHL(30) antibody (Ig33) detected cytoplasmic pVHL expression, suggesting that the distribution of VHL protein isoforms varies in the nuclear and cytoplasmic compartments of renal tumors. 12937142 2003
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.900 AlteredExpression disease LHGDN Downregulation of Cap43 gene by von Hippel-Lindau tumor suppressor protein in human renal cancer cells. 12767066 2003
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.900 GeneticVariation disease BEFREE His right-kidney tumour carried a different VHL mutation and loss of heterozygosity (LOH) was not detected. 12522559 2003
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.900 Biomarker disease RGD Down-regulation of von Hippel-Lindau protein in N-nitroso compound-induced rat non-clear cell renal tumors. 11880179 2002
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.900 Biomarker disease BEFREE Mutations of the von Hippel-Lindau tumor suppressor protein are found in most clear cell renal cell carcinomas (CC-RCCs) but not other renal tumors, raising a question about the importance of activation of the HIF pathway in CC-RCC development. 12019178 2002
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.900 Biomarker disease CTD_human Down-regulation of von Hippel-Lindau protein in N-nitroso compound-induced rat non-clear cell renal tumors. 11880179 2002
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.900 GeneticVariation disease BEFREE In conclusion, we identified a de novo germline mutation in the VHL gene of a young patient and a somatic chromosome 3p loss at the homologous chromosome 3 in his renal tumor. 8641695 1996
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.900 Biomarker disease BEFREE 64 kidney tumours of clear cell histopathology were analysed with non-isotopic SSCP and HA for the presence of VHL gene defects. 8739330 1996
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.900 GeneticVariation disease BEFREE We studied VHL gene mutation in 31 kidney tumors from France. 7591282 1995
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.900 CausalMutation disease CLINVAR
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.900 GenomicAlterations disease CGI
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm
0.900 CausalMutation disease CGI