Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 GeneticVariation 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
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 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
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 Biomarker disease BEFREE Somatic Bi-allelic Loss of TSC Genes in Eosinophilic Solid and Cystic Renal Cell Carcinoma. 29941307 2018
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 GeneticVariation disease BEFREE Using capture-based and amplicon-based next-generation sequencing, we now demonstrate the consistent presence of either TSC1 or TSC2 gene mutations in pediatric ESC RCC (8/9 cases) and adult ESC RCC (6/6 cases). 29975249 2018
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 GeneticVariation disease BEFREE Pediatric renal cell carcinoma (RCC) is a rare cancer that can be associated with inherited diseases including tuberous sclerosis complex (TSC) caused by germline mutations in TSC1 or TSC2. 27748010 2017
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 AlteredExpression disease BEFREE Renal cell carcinoma (RCC) is a metabolic disease, being characterized by the dysregulation of metabolic pathways involved in oxygen sensing (VHL/HIF pathway alterations and the subsequent up-regulation of HIF-responsive genes such as VEGF, PDGF, EGF, and glucose transporters GLUT1 and GLUT4, which justify the RCC reliance on aerobic glycolysis), energy sensing (fumarate hydratase-deficient, succinate dehydrogenase-deficient RCC, mutations of HGF/MET pathway resulting in the metabolic Warburg shift marked by RCC increased dependence on aerobic glycolysis and the pentose phosphate shunt, augmented lipogenesis, and reduced AMPK and Krebs cycle activity) and/or nutrient sensing cascade (deregulation of AMPK-TSC1/2-mTOR and PI3K-Akt-mTOR pathways). 27453294 2016
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 Biomarker disease BEFREE Their effects on tuberous sclerosis proteins (TSC1/2) and heat shock protein 90 (Hsp90) expressions in sporadic ccRCC are unknown. 27845047 2016
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 Biomarker disease CTD_human Frequent mutations of genes encoding ubiquitin-mediated proteolysis pathway components in clear cell renal cell carcinoma. 22138691 2011
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 GeneticVariation disease BEFREE Germline mutations in the MET and fumarate hydratase (FH) genes lead to the development of type 1 and type 2 papillary RCCs, respectively, and such mutations of either the TSC1 or TSC2 gene increase the risk of RCC. 21228928 2010
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 AlteredExpression disease BEFREE We document robust FoxO activation in Tsc1-deficient benign polycystic kidneys and FoxO extinction on progression to murine renal tumors; murine renal tumor progression on genetic deletion of both Tsc1 and FoxOs; and downregulated FoxO expression in most human renal clear cell and papillary carcinomas, yet continued expression in less aggressive RCCs and benign renal tumor subtypes. 21075312 2010
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 GeneticVariation disease BEFREE Here, we will address the genetic, cellular and biochemical mechanisms that may contribute to the unusually broad spectrum of renal disease in cells with TSC1 or TSC2 mutations, and consider how the TSC signaling pathways may be linked to other renal diseases such as polycystic kidney disease and renal cell carcinoma. 15856327 2005
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 Biomarker disease BEFREE Here, we will review the clinical association of RCC in TSC, consider the factors that have led to its under-emphasis within the RCC field, address the cellular and biochemical mechanisms that may contribute to RCC in cells with TSC1 or TSC2 mutations, and finally discuss the ways in which the TSC signaling pathways may be linked to sporadic RCC in the general population. 15579029 2004
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 GeneticVariation disease BEFREE TSC1 and TSC2 mutations are related to various phenotypic manifestations and risks of malignancy, such as an increased incidence of the TSC2 mutation in patients with renal cell carcinoma. 12686801 2003
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 GeneticVariation disease BEFREE Multifocal renal cell carcinoma in sibs from a chromosome 9 linked (TSC1) tuberous sclerosis family. 8592324 1995
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 CausalMutation disease CGI
Conventional (Clear Cell) Renal Cell Carcinoma
0.600 GenomicAlterations disease CGI