Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE Several molecular pathways are implicated in renal cell carcinoma (RCC) pathogenesis, including von Hippel--Lindau (VHL) gene inactivation leading to vascular endothelial growth factor (VEGF) expression. 16507216 2006
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 Biomarker disease BEFREE The von Hipple-Lindau (VHL) gene is the tumor suppressor gene predisposing to both sporadic renal cell carcinoma (RCC) and von Hippel-Lindau disease. 12016154 2002
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 Biomarker disease BEFREE These findings provide further evidence that genetic variation at HIF-binding sites modulates the oncogenic transcriptional output of the VHL-HIF axis and provide a functional explanation for the disease-associated effects of SNPs in ccRCC. 27774982 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 Biomarker disease BEFREE Inactivation of the von Hippel-Lindau tumour suppressor in renal cell carcinoma (RCC) leads to failure of proteolytic regulation of the alpha subunits of hypoxia-inducible factor (HIF), constitutive upregulation of the HIF complex, and overexpression of HIF target genes. 17387348 2007
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE Somatic noncoding VHL alterations were identified in 29% of ccRCCs and may be associated with improved overall survival. 24166983 2014
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 Biomarker disease CTD_human Role of transforming growth factor-alpha in von Hippel--Lindau (VHL)(-/-) clear cell renal carcinoma cell proliferation: a possible mechanism coupling VHL tumor suppressor inactivation and tumorigenesis. 11171960 2001
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 Biomarker disease CTD_human This association of a proposed occupational cause and occurrence of renal-cell carcinoma emphasizes the availability and use of VHL sequencing for both studying the pathophysiology of malignant transformation and potentially playing a clinical role in genetic counseling or risk assessment. 19473641 2009
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 Biomarker disease BEFREE VHL status was assessed in 20 cases of clear cell renal cell carcinoma and 9 cases of papillary renal cell carcinoma by DNA sequencing and by immunohistochemical staining for the hypoxia-inducible factor-alpha target gene products CA9 and GLUT-1. 18660794 2009
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 CausalMutation disease CGI
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 Biomarker disease BEFREE The availability of a RCC cell line from a VHL patient would be useful in studies comparing sporadic RCC with RCC resulting from VHL syndrome; and for determining the relationship or interaction of the RCC gene with the VHL gene to produce a common tumor type. 9209471 1997
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 Biomarker disease BEFREE These data support the notion of a putative genotoxic effect of TCE leading to VHL gene damage and subsequent occurrence of RCC in highly exposed subjects. 15177666 2004
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 AlteredExpression disease BEFREE HIF-1 inhibits mitochondrial biogenesis and cellular respiration in VHL-deficient renal cell carcinoma by repression of C-MYC activity. 17482131 2007
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE This is especially so in phenotypically variable diseases, such as von Hippel-Lindau disease (vHL). vHL is caused by germline mutations in the VHL gene, which predispose to the development of multiple tumors such as central nervous system hemangioblastomas and renal cell carcinoma (RCC). 28503092 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE Additionally, a new similarity-based multi-objective optimization algorithm (SMO) was developed for training the MCMO to predict ccRCC related gene mutations (VHL, PBRM1 and BAP1) using quantitative CT features. 30277889 2018
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 AlteredExpression disease BEFREE Significant decrease (P<0.05) in LimD1 and VHL expression was observed in different subtypes of RCC and in early invasive lesions. 29033184 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 AlteredExpression disease BEFREE Furthermore, the findings of homozygous inactivation of the VHL gene in a G1 tumor support the notion that the inactivation of the VHL gene is an early event in tumorigenesis of renal cell carcinoma. 8641695 1996
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 Biomarker disease BEFREE During the past decade, researchers have identified the von Hippel-Lindau (VHL) gene as an important tumor suppressor in clear cell carcinoma of the kidney. 28363475 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE We identified the selective PI3Kβ inhibitor TGX221 as a selective inhibitor for ccRCC with both VHL and SETD2 mutations. 25853938 2015
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 GeneticVariation disease BEFREE Chromosome 3p may therefore contain two loci for renal cell carcinoma: one gene (or genes) in 3p13-p14 and the VHL gene in 3p25-p26, whose aberration is also associated with other typical manifestations of VHL. 2011596 1991
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 PosttranslationalModification disease BEFREE Although hypermethylation of the VHL gene has been reported previously in nonfamilial RCC and although methylation of tumor-suppressor genes has been implicated in the pathogenesis of other sporadic cancers, this is the first report of somatic methylation in a familial cancer syndrome. 9106522 1997
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 Biomarker disease BEFREE VHL has previously been reported to be methylated in sporadic renal cell carcinoma. 20680678 2010
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 Biomarker disease BEFREE We genotyped 70 genes involved in the pathogenesis of renal-cell carcinoma (including the VHL/HIF/VEGF and PI3K/AKT/mTOR pathways, and genes involved in immune regulation and metabolism) for single nucleotide polymorphisms. 23219378 2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 AlteredExpression disease BEFREE The aim of this study was to investigate the association of Von Hippel-Lindau (VHL) gene status, vascular endothelial growth factor receptor (VEGFR) or stem cell factor receptor (KIT) expression, and their relationships with characteristics and clinical outcome of advanced ccRCC. 26228213 2015
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.800 AlteredExpression disease BEFREE As the identification of novel pVHL targets might provide insights into pVHL tumour suppressor activity, we performed gene expression microarray analysis in VHL-wild-type and VHL-null renal cell carcinoma (RCC) cell lines. 15824735 2005