TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Biomarker disease BEFREE Treatment of both <i>Tsc2<sup>+/</sup></i><sup>-</sup> mice and a TSC1-null bladder cancer xenograft model with a CDK7 inhibitor showed marked reduction in tumor volume and absence of regrowth in the xenograft model. 31506280 2019
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Biomarker disease BEFREE Mutation of the co-chaperone Tsc1 in bladder cancer diminishes Hsp90 acetylation and reduces drug sensitivity and selectivity. 31645902 2019
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease BEFREE TSC1/2 mutations also occur in other neoplastic disorders, including lymphangioleiomyomatosis (LAM) and bladder cancer. 29669930 2018
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Biomarker disease BEFREE Loss of TSC1 function, a crucial negative regulator of mTOR signaling, is a common alteration in bladder cancer. 27225870 2017
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease BEFREE In addition, we observed that bladder cancer cell lines (RT4, UMUC-3, and J82) with homozygous deletion of either TSC1 or PTEN are more sensitive to metformin than those (TEU2, TCCSUP, and HT1376) with wild-type TSC1 and PTEN genes. 26921394 2016
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease BEFREE The TSC1 c. 1907 1908 del (E636fs) mutation in bladder cancer suggests that the location of the mutation is Exon 15 with frequency of TSC1 mutation of 11.7 %. 27352265 2015
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Biomarker disease BEFREE We used genomic sequencing to examine the involvement of TSC1 in bladder cancer, and signalling pathway analysis and small-molecule screening to identify targeted therapeutic strategies in TSC1 mutant bladder cancer cell lines. 23401075 2013
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Biomarker disease BEFREE TSC1/hamartin is a tumor suppressor gene involved in the development of various malignancies, including bladder cancer. 18480009 2008
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 Biomarker disease LHGDN This study was designed to explore the value of these biomarkers in predicting outcome in pTa/pT1 tumors and validate the regulation of p27 and 14-3-3sigma by hamartin in vivo using human bladder cancer tissue. 18480009 2008
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease BEFREE We conclude that although TSC1 missense mutations do not play a major role in causation of TSC disease, they represent a significant proportion of somatic loss of function mutations in bladder cancer. 18397877 2008
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease LHGDN We conclude that although TSC1 missense mutations do not play a major role in causation of TSC disease, they represent a significant proportion of somatic loss of function mutations in bladder cancer. 18397877 2008
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 AlteredExpression disease BEFREE Recent data suggest that functional inactivation of TSC proteins might also be involved in the development of other diseases not associated with TSC, such as sporadic bladder cancer, breast cancer, ovarian carcinoma, gall bladder carcinoma, non-small-cell carcinoma of the lung, and Alzheimer's disease. 16713332 2006
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease LHGDN The mutation spectrum of TSC1 in bladder cancer and functional evidence from TSC1 -gene-replacement studies in bladder tumour cells will be presented. 12773163 2003
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease BEFREE The mutation spectrum of TSC1 in bladder cancer and functional evidence from TSC1 -gene-replacement studies in bladder tumour cells will be presented. 12773163 2003
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease LHGDN Here, we have carried out mutation analysis of 62 bladder tumors and 33 bladder tumor-derived cell lines to establish the frequency and spectrum of TSC1 mutations in TCC. 14633685 2003
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease LHGDN Our data suggest that the TSC1 mutation possibly has a causative role in the initiation or progression of some bladder tumors and this process is possibly related to the functional loss of p27. 12853839 2003
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease BEFREE Our data suggest that the TSC1 mutation possibly has a causative role in the initiation or progression of some bladder tumors and this process is possibly related to the functional loss of p27. 12853839 2003
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease BEFREE Here, we have carried out mutation analysis of 62 bladder tumors and 33 bladder tumor-derived cell lines to establish the frequency and spectrum of TSC1 mutations in TCC. 14633685 2003
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 AlteredExpression disease BEFREE We have investigated three candidate tumor suppressor genes on chromosome 9 (CDKN2A, DBCCR1, and TSC1), at the DNA level and by expression analysis in a panel of bladder tumor cell lines, many of which have probable LOH along the length of the chromosome, as indicated by homozygosity for multiple polymorphic markers. 11921286 2002
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease BEFREE The chromosome 9q genes TGFBR1, TSC1, and ZNF189 are rarely mutated in bladder cancer. 11329144 2001
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease BEFREE Mutation of the 9q34 gene TSC1 in sporadic bladder cancer. 10353610 1999
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 CausalMutation disease CGI
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GenomicAlterations disease CGI
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.600 GeneticVariation disease UNIPROT