Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
1.000 GeneticVariation disease BEFREE Tuberous sclerosis complex (TSC) is characterized by hamartomatous lesions in various organs and arises due to mutations in the TSC1 or TSC2 genes. 28993242 2018
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
1.000 GeneticVariation disease BEFREE Tuberous sclerosis complex (TSC) is a pediatric disorder of dysregulated growth and differentiation caused by loss of function mutations in either the TSC1 or TSC2 genes, which regulate mTOR kinase activity. 28973543 2018
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
1.000 Biomarker disease BEFREE After discovery of the two causative genes, TSC1 and TSC2, and the role of mammalian target of rapamycin (mTOR) regulation in the pathogenesis of TSC, an increasing number of clinical studies evaluating mTOR inhibition in TSC patients have shown impressive results in many organ manifestations, such as brain, lung, and kidney. 27585680 2018
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
1.000 Biomarker disease BEFREE Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex. 28087349 2017
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
1.000 Biomarker disease BEFREE Next-generation sequencing of TSC1 and TSC2 genes was performed in a proband affected by TSC and KC. 29261847 2017
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
1.000 GeneticVariation disease BEFREE Tuberous sclerosis complex (TSC) is a neurocutaneous disorder that results from mutations within either the TSC1 gene or the TSC2 gene. 28127866 2017
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
1.000 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
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
1.000 GeneticVariation disease BEFREE Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis. 28968464 2017
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
1.000 GeneticVariation disease BEFREE Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex. 28178598 2017
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
1.000 GeneticVariation disease BEFREE TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex. 25900779 2016
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
1.000 GeneticVariation disease BEFREE Tuberous sclerosis complex (TSC) is a multisystem genetic disorder caused by mutations in the TSC1 and TSC2 genes. 25452577 2016
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
1.000 Biomarker disease BEFREE The tuberous sclerosis complex (TSC) family of tumor suppressors, TSC1 and TSC2, function together in an evolutionarily conserved protein complex that is a point of convergence for major cell signaling pathways that regulate mTOR complex 1 (mTORC1). 26350902 2016
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
1.000 GeneticVariation disease BEFREE TSC is caused by a germline heterozygous mutation in either TSC1 or TSC2, and TSC-LAM is thought to occur as a result of a somatic mutation (second hit) in addition to a germline mutation in TSC1 or TSC2 (first hit). 26563443 2016
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
1.000 Biomarker disease CLINGEN Minute amounts of hamartin wildtype rescue the emergence of tuber-like lesions in conditional Tsc1 ablated mice. 27425891 2016
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
1.000 Biomarker disease BEFREE Here, we report that patient-derived fibroblasts from three monogenic models of ASD-fragile X and tuberous sclerosis TSC1 and TSC2 syndromes-display depressed Ca(2+) release through inositol trisphosphate receptors (IP3Rs). 26393489 2016
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
1.000 Biomarker disease BEFREE PAK2 is an effector of TSC1/2 signaling independent of mTOR and a potential therapeutic target for Tuberous Sclerosis Complex. 26412398 2016
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
1.000 GeneticVariation disease BEFREE Tuberous sclerosis complex (TSC), a heterodimer of TSC1 and TSC2, functions as a negative regulator of mTOR signaling. 25724664 2016
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
1.000 GeneticVariation disease BEFREE Rheb is a small GTP-binding protein and its GTPase activity is activated by the complex of Tsc1 and Tsc2 whose mutations cause tuberous sclerosis complex (TSC). 25880340 2016
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
1.000 GeneticVariation disease BEFREE We describe a 7-week-old infant with tuberous sclerosis (TSC1 mutation) and hemimegalencephaly who underwent a functional hemispherectomy for status epilepticus. 26231267 2016
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
1.000 GeneticVariation disease BEFREE Tuberous sclerosis complex (TSC) is a genetic disease resulting from mutation in TSC1 or TSC2 and subsequent hyperactivation of mammalian Target of Rapamycin (mTOR). 26220190 2016
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
1.000 GeneticVariation disease BEFREE MFF was highly specific for TSC.MFF presence was associated with TSC gene mutations and with brain or multiorgan involvement; their number per patient was correlated with the degree of multiorgan involvement. 26069922 2016
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
1.000 GeneticVariation disease BEFREE Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins. 26408672 2016
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
1.000 GeneticVariation disease BEFREE Tuberous sclerosis complex (TSC) is caused by a mutation in the TSC1 or TSC2 genes. 23909698 2015
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
1.000 GeneticVariation disease BEFREE From this analysis, mutations in TSC genes were identified in 5 samples from the AML-TSC patients (mutation detection rate=71%) and 3 samples from AML-non-TSC patients (mutation detection rate=21%). 25281918 2015
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
1.000 GeneticVariation disease BEFREE The mammalian/mechanistic target of rapamycin complex 1 (mTORC1) signaling pathway is hyperactivated in a variety of cancers and disorders, including lymphangioleiomyomatosis (LAM) and tuberous sclerosis complex (TSC), which are characterized by mutations in tumor suppressors TSC1 or TSC2. 24304514 2015