Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.700 Biomarker disease BEFREE For an early diagnosis of VHL, before the occurrence of cancers (especially renal cell carcinoma), it is of huge importance to initiate VHL genetic testing in at-risk patients. 29764331 2019
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.700 GeneticVariation disease BEFREE HIFs contribute to the pathogenesis of many cancers, particularly the clear cell type of renal cell carcinoma in which loss of function of the von Hippel-Lindau tumor suppressor blocks HIF-2α degradation. 30625281 2019
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.700 Biomarker disease BEFREE Previously we have described that RWDD3 or RSUME (RWD domain-containing protein SUMO Enhancer) sumoylates and binds VHL protein and negatively regulates HIF degradation, leading to xenograft RCC tumor growth in mice. 30890701 2019
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.700 GeneticVariation disease BEFREE As an application of this resource, we discovered RCC GCN edges and modules that were associated with genetic lesions in known RCC driver genes, including VHL, a common initiating clear cell RCC (ccRCC) genetic lesion, and PBRM1 and BAP1 which are early genetic lesions in the Braided Cancer River Model (BCRM). 30814637 2019
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.700 GeneticVariation disease BEFREE The last 30 years of research in renal cell carcinoma (RCC) has revealed that the vast majority of RCC histologies share a recurrent pattern of mutations to metabolic genes, including VHL, MTOR, ELOC, TSC1/2, FH, SDH, and mitochondrial DNA. 31155438 2019
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.700 Biomarker disease BEFREE In addition, SUMOylation of MITF modulates renal tumors secondary to melanoma, Similarly, SUMOylation of tumor suppressor gene VHL regulates the occurrence of renal cell carcinoma in VHL syndrome. 30707172 2019
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.700 Biomarker disease BEFREE VHL status regulates transforming growth factor-β signaling pathways in renal cell carcinoma. 29662646 2018
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.700 GeneticVariation disease BEFREE VHL mutations were detected in 26/55 (47%) RCC patients. 30514329 2018
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.700 GeneticVariation disease BEFREE Tumorigenesis in VHL of both RCC and CNS HB occurs secondary to downstream effects of a mutated or absent VHL protein. 29396065 2018
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.700 GeneticVariation disease BEFREE To date, knowledge on VHL genetic and epigenetic regulation is restricted to inactivating mutations and loss-of-heterozygosity in renal cell carcinomas. 30053437 2018
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.700 GeneticVariation disease BEFREE We conclude that there exists a group of RCCs with abundant leiomyomatous stroma, where the epithelial component is indistinguishable from conventional clear cell RCC and distinct from clear cell (tubulo-) papillary RCC and that these tumors lack aberrations related to the function of the VHL gene, mutations in genes involved in angiogenesis, and hotspot mutations in the TCEB1 gene. 29084058 2018
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.700 Biomarker disease BEFREE Renal cell carcinoma (RCC) is highly dependent on angiogenesis, due to the overactivation of the VHL/HIF/VEGF/VEGFRs axis; this justifies the marked sensitivity of this neoplasm to antiangiogenic agents which, however, ultimately fail to control tumor growth. 30447930 2018
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.700 AlteredExpression disease BEFREE Taken together, these results demonstrate that dsVHL-821, a novel saRNA for VHL, induces the expression of the VHL gene by epigenetic changes, leading to inhibition of cell growth and induction of apoptosis, and suggest that targeted activation of VHL by dsVHL-821 may be explored as a novel treatment of renal cell carcinoma. 29425832 2018
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.700 GeneticVariation disease BEFREE Clear cell renal cell carcinomas frequently bear a mutated Von Hippel-Lindau (VHL) gene. 29732003 2018
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.700 AlteredExpression disease BEFREE VHL protein (pVHL) expression was evaluated by immunoblotting in the human RCC cell lines CAKI, ACHN, 786‑O, 769‑P and A498. 29845253 2018
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.700 Biomarker disease BEFREE In previous studies, we found that 2'-hydroxyflavonone (2HF), a citrus flavonoid, inhibits the growth of renal cell carcinoma in a VHL-dependent manner. 30546837 2018
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.700 Biomarker disease BEFREE HIF2A germline-mutation-induced polycythemia in a patient with VHL-associated renal-cell carcinoma. 29172931 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.700 GeneticVariation disease BEFREE Among the 11 non-responders 7 (64%) were wild-type, 2 (18%) were p53 mutated and 2 (18%) VHL1 mutated.No significant associations were found among RCC histotype, mutation variants and response to therapies. 27741505 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.700 GeneticVariation disease BEFREE Especially, renal cell carcinoma (RCC) is often associated with von Hippel-Lindau (VHL) gene mutations, leading to up-regulation of HIFs. 28110220 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.700 AlteredExpression disease BEFREE Un-physiological activation of hypoxia inducible factor (HIF) is an early event in most renal cell cancers (RCC) following inactivation of the von Hippel-Lindau tumor suppressor. 28715484 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.700 Biomarker disease BEFREE Here, we investigated its growth inhibitory properties on a panel of immortalized and patient derived renal cell carcinoma (RCC) cell lines which were either deficient in the tumour suppressor von Hippel-Lindau (VHL) protein or possessed a functional copy. 28582447 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.700 AlteredExpression disease BEFREE In renal cell carcinoma (RCC) of the clear cell type, inactivity of the VHL gene induces overexpression of HIF1 α and its targets, the tyrosine kinase receptors, promoting RCC development and progression. 27834463 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.700 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
0.700 Biomarker disease BEFREE <i>Bap1</i> and <i>Pbrm1:</i> Determinants of Tumor Grade and mTOR Activation in VHL-Deficient Mouse Models of Renal Cell Carcinoma. 28765116 2017
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.700 GeneticVariation disease BEFREE The meta-analysis showed no association between the VHL gene alteration and overall response rate (relative risk = 1.47 [95% CI, 0.81-2.67], P = 0.20) or progression free survival (hazard ratio = 1.02 [95% CI, 0.72-1.44], P = 0.91) in patients with RCC who received VEGF-targeted therapy. 28103578 2017