Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.400 Biomarker group BEFREE Here, we present our efforts to decipher the role of von Hippel-Lindau tumor suppressor protein (pVHL) in cancer insurgence. 30943211 2019
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.400 GeneticVariation group BEFREE Arginine refolds, stabilizes, and restores function of mutant pVHL proteins in animal model of the VHL cancer syndrome. 30194449 2019
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.400 GeneticVariation group BEFREE Von Hippel-Lindau (VHL) syndrome is caused by germline mutations in the VHL gene and is accompanied by the development of both benign and malignant tumors. 30178691 2019
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.400 Biomarker group BEFREE HIF-stabilizing mutations have been detected in the von Hippel-Lindau (VHL) gene, as well as in other genes, such as succinate dehydrogenase (SDHx), fumarate hydratase (FH) and transcription elongation factor B subunit 1 (TCEB1), as well as the gene that encodes HIF2α itself: EPAS1<sup>HIF2α</sup> Importantly, the recent discovery of <i>EPAS1</i> mutations in PPGLs and the results of comprehensive <i>in vitro</i> and <i>in vivo</i> studies revealing their oncogenic roles characterized a hitherto unknown direct mechanism of HIF2α activation in human cancer. 28667082 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.400 Biomarker group BEFREE Neuroendocrine neoplasms such as paragangliomas (PGLs) are particularly appealing for understanding the cancer metabolic adjustments because of their associations with deregulations of metabolic enzymes, such as succinate dehydrogenase (SDH), and the von Hippel Lindau (VHL) gene involved in HIF-1α stabilization. 28036268 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.400 GeneticVariation group BEFREE Although somatic VHL mutations have been described for some time, more-recent cancer genomic studies have identified mutations in epigenetic regulatory genes and demonstrated marked intra-tumour heterogeneity, which could have prognostic, predictive and therapeutic relevance. 28276433 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.400 Biomarker group BEFREE Von Hippel-Landau (VHL) protein is a potent tumor suppressor regulating numerous pathways that drive cancer, but mutations in VHL are restricted to limited subsets of malignancies. 29053101 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.400 Biomarker group BEFREE Yao and colleagues elucidate how VHL loss contributes to chromatin alteration at both gene promoters and enhancers/superenhancers, in both an HIF-dependent as well as independent manner, and how this may provide additional targets for therapeutic intervention in advanced ccRCC.<i>Cancer Discov; 7(11); 1221-3. 29097620 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.400 GeneticVariation group BEFREE The Cancer Genome Atlas published data set was queried (http://cbioportal.org) for clear cell renal cell carcinoma tumors lacking VHL gene mutation and chromosome 3p loss, for which whole-slide images were reviewed. 28731045 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.400 GeneticVariation group 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
0.400 AlteredExpression group BEFREE This type of cancer is well characterized at the genomic and transcriptomic level and is associated with a loss of VHL that results in stabilization of HIF1. 27128972 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.400 Biomarker group BEFREE Sequencing of 48 genes implicated in cancer revealed that only VHL, TP53, and PTEN were mutated at a noticeable frequency (51%, 9%, and 9%, respectively). 24992170 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.400 PosttranslationalModification group BEFREE Under the fixed-effects model, the pooled OR from seven studies including 596 RCC and 294 nonmalignant samples showed that VHL promoter hypermethylation was significantly higher in cancer than in controls (OR = 7.93, 95% CI = 2.84- 22.15, P < 0.001). 27997886 2016
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.400 AlteredExpression group BEFREE The hypoxia-inducible factor (Hif)-1α (Hif-1α) and Hif-2α (Epas1) have a critical role in both normal development and cancer. von Hippel Lindau (Vhl) protein, encoded by a tumor suppressor gene, is an E3 ubiquitin ligase that targets Hif-1α and Epas1 to the proteasome for degradation. 26348575 2015
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.400 GeneticVariation group BEFREE According to in vitro and preclinical mouse studies, 2'-hydroxyflavanone can both protect the VHL locus and prevent the progression of VHL-mutant cancer. 25957660 2015
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.400 GeneticVariation group BEFREE Although missense mutations of the von Hippel-Lindau disease (VHL) gene are the most common germline mutation underlying this heritable cancer syndrome, the mechanism of tumorigenesis is unknown. 23318261 2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.400 Biomarker group BEFREE Recurrent patterns of DNA methylation in the ZNF154, CASP8, and VHL promoters across a wide spectrum of human solid epithelial tumors and cancer cell lines. 24149212 2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.400 Biomarker group BEFREE The purpose of this study was to investigate the inhibitory mechanism of this pathway acting through the tumor suppressor von Hippel-Lindau (VHL) protein in glioma cancer stem cells. 23338840 2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.400 GeneticVariation group BEFREE However, now we describe a new homozygous VHL exon 2 mutation of the VHL gene:(c.413C>T):P138L, which is associated in the affected homozygote with congenital polycythemia but not in her, or her-heterozygous relatives, with cancer or other VHL syndrome tumors. 23538339 2013
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.400 Biomarker group BEFREE Renal or kidney cancer accounts for about 3% of all cancer cases reported each year in the U.S. Molecular signatures that define the cancer, such as the loss of functional VHL, are found in both sporadic and familial cases of cancer. 22928967 2012
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.400 GeneticVariation group BEFREE A subset of relevant clinically observed mutations to pVHL are thought to cause weaker binding of HIF-1α and are associated with cancer and cardiovascular diseases. 22105711 2012
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.400 Biomarker group BEFREE We observed a much higher rate of indel mutations in the affected cases and identified recurrent truncating indels in several cancer genes such as VHL, PBRM1, and JARID1C. 22156295 2012
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.400 GeneticVariation group BEFREE Pheochromocytomas and paragangliomas are neuroendocrine tumors that occur in the context of inherited cancer syndromes in ∼30% of cases and are linked to germline mutations in the VHL, RET, NF1, SDHA, SDHB, SDHC, SDHD, SDHAF2 and TMEM127 genes. 21784903 2011
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.400 GeneticVariation group BEFREE Variation within angiogenesis was most strongly associated with survival time overall (P = 0.03) and among patients with serous cancer (P = 0.05), particularly for EIF2B5 rs4912474 (all patients HR, 0.69; 95% CI, 0.54-0.89; P = 0.004), VEGFC rs17697305 (serous subtype HR, 2.29; 95% CI, 1.34-3.92; P = 0.003), and four SNPs in VHL. 20103664 2010
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.400 GeneticVariation group BEFREE Mutations in the human von Hippel-Lindau (VHL) gene are the cause of VHL disease that displays multiple benign and malignant tumors. 20516215 2010