Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 201163
Gene Symbol: FLCN
FLCN
0.900 Biomarker disease HPO
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 AlteredExpression disease BEFREE PTEN expression and mutations in TSC1, TSC2 and MTOR are associated with response to rapalogs in patients with renal cell carcinoma. 31335987 2020
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: 2034
Gene Symbol: EPAS1
EPAS1
0.700 Biomarker disease BEFREE Our findings also suggest that MTHFD2 and HIF-2α form a positive feedforward loop in RCC, promoting metabolic reprograming and tumor growth. 31289360 2019
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.700 Biomarker disease BEFREE A small molecule inhibitor that binds to HIF-2α and blocks dimerization with HIF-1β is in clinical trials for the treatment of renal cell carcinoma. 30625281 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: 5728
Gene Symbol: PTEN
PTEN
0.700 Biomarker disease BEFREE The MTT assay revealed that miR-130b modulated cell growth. qRT-PCR revealed an inverse correlation between miR-130b and PTEN in RCC. 31195398 2019
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.700 GeneticVariation disease BEFREE Our study confirmed sex-specific associations for two known RCC risk loci at 14q24.2 (DPF3) and 2p21(EPAS1). 31231134 2019
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.700 GeneticVariation disease GWASCAT Sex specific associations in genome wide association analysis of renal cell carcinoma. 31231134 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.700 AlteredExpression disease BEFREE Expression levels of PTEN-Long in serum of patients with nephritis, renal cell carcinoma (RCC) as well as normal controls, and in serum and renal tissues of mice were measured by western blotting. 30680021 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: 5728
Gene Symbol: PTEN
PTEN
0.700 Biomarker disease BEFREE The expression pattern of tumor suppressor gene phosphatase and tensin homolog deleted on chromosome ten (PTEN) and phosphatase and tensin homolog deleted on chromosome ten/phosphatidylinositol3-kinase/protein kinase B (PTEN/PI3K/AKT) cell signaling pathway in renal cell carcinoma (RCC) were investigated in children. 30655739 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: 2034
Gene Symbol: EPAS1
EPAS1
0.700 Biomarker disease BEFREE While HIF1α can act as a ccRCC tumor suppressor, HIF2α has emerged as the key HIF isoform that is essential for ccRCC tumor progression. 29938199 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: 5728
Gene Symbol: PTEN
PTEN
0.700 Biomarker disease BEFREE The PTEN expressing RCC cell line A498 and the PTEN deficient 786-O cell line were stably transfected with the PTEN-Δ or PTEN transcript. 29954386 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