Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.900 AlteredExpression disease BEFREE Here, we characterized a mouse model of sleep disorders in TSC and investigated mechanisms of sleep dysfunction in this conditional knockout model involving inactivation of the Tsc1 gene in neurons and astrocytes (Tsc1<sup>GFAP</sup>CKO mice). 31605778 2020
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.900 GeneticVariation disease BEFREE To determine whether TSC1 and TSC2 variants of uncertain clinical significance (VUS) affect TSC complex function and cause TSC, in vitro assays of TORC1 activity can be employed. 31799751 2020
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.900 GeneticVariation disease BEFREE Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited neurocutaneous disorder caused by inactivating mutations in TSC1 or TSC2, key regulators of the mechanistic target of rapamycin complex 1 (mTORC1) pathway. 31834371 2020
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.900 Biomarker disease BEFREE Hamartin, a component of the tuberous sclerosis complex (TSC) that actively inhibits the mammalian target of rapamycin (mTOR), may mediate the endogenous resistance of Cornu Ammonis 3 (CA3) hippocampal neurons following global cerebral ischemia. 31100427 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.900 GeneticVariation disease BEFREE Tuberous sclerosis complex lymphangioleiomyomatosis (TSC-LAM) is a rare disease, which may develop an intractable pneumothorax. 31612306 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.900 GeneticVariation disease BEFREE TSC1/2 mutation has been identified in glioblastoma (GBM) even though it probably does not increase the overall risk for GBM in patients with TSC. 30528355 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.900 GeneticVariation disease BEFREE In tuberous sclerosis (TSC)-associated tumors, mutations in the TSC genes lead to aberrant activation of the mechanistic target of rapamycin complex 1 (mTORC1) signaling pathway. mTORC1 signaling impacts many biological processes including the epithelial-mesenchymal transition (EMT), which is suggested to promote tumor progression and metastasis in various types of cancer. 31207499 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.900 GeneticVariation disease BEFREE Tuberous sclerosis complex (TSC) is a rare neurodevelopmental disorder resulting from autosomal dominant mutations in the TSC1 or TSC2 genes, leading to a hyperactivated mammalian target of rapamycin (mTOR) pathway, and gray and white matter defects in the brain. 30581017 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.900 GeneticVariation disease BEFREE Tuberous sclerosis complex (TSC) is a rare disease caused by mutations in the TSC1 or TSC2 genes and is characterized by widespread tumour growth, intractable epilepsy, cognitive deficits and autistic behaviour. 30684511 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.900 Biomarker disease BEFREE Our results establish a critical role for Tsc1-mTORC1 signaling in setting the functional properties of dopamine neurons, and indicate that dopaminergic dysfunction may contribute to cognitive inflexibility in TSC. 31780742 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.900 Biomarker disease BEFREE Here we report that a stable analogue of diadenosine-tetraphosphate: AppCH2ppA effectively suppresses spontaneous epileptiform activity in vitro and in vivo in a Tuberous Sclerosis Complex (TSC) mouse model (Tsc1+/-), and in postsurgery cortical samples from TSC human patients. 30295710 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.900 GeneticVariation disease BEFREE Tuberous sclerosis (TSC) is an autosomal dominant disorder caused by heterozygous mutations in the TSC1 or TSC2 gene. 30928642 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.900 GeneticVariation disease BEFREE Children with tuberous sclerosis complex (TSC), caused by pathogenic variants in TSC1/TSC2, are at risk for intellectual disability. 31005478 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.900 GeneticVariation disease BEFREE Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder caused by deletions in the TSC1 or TSC2 genes that is associated with epilepsy in up to 90% of patients. 31761686 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.900 GeneticVariation disease BEFREE Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) are caused by inactivating mutations in TSC1 or TSC2, leading to mTORC1 hyperactivation. 30816188 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.900 GeneticVariation disease BEFREE Through the discovery of the TSC1 and TSC2 genes and the signaling pathways responsible for the pathology of TSC, a new drug target called mechanistic target of rapamycin complex 1 (mTORC1) was discovered. 30904097 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.900 GeneticVariation disease BEFREE TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review. 28222202 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.900 Biomarker disease BEFREE Downstream of insulin-like growth factor receptor, the TSC1/2/ TCB1D7 (tuberous sclerosis complex) and mTOR (mechanistic target of rapamycin) pathways are implicated in many human diseases, including cancer and diabetes. 30684133 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.900 GeneticVariation disease BEFREE LAM and TSC are caused by mutations in the TSC1 or TSC2 tumor suppressor genes leading to elevated mechanistic/mammalian target of rapamycin complex activity. 31437431 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.900 GeneticVariation disease BEFREE Tuberous Sclerosis Complex (TSC) is caused by mutations in TSC1 or TSC2, which encode negative regulators of the mTOR signaling pathway. 30696882 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.900 GeneticVariation disease BEFREE Of 2 RCCLMSs with confirmed monosomy 8, 1 showed a hotspot ELOC mutation without TSC/MTOR mutations, and 1 showed a previously undescribed 3-bp in-frame ELOC deletion, along with a truncating TSC1 mutation. 31850909 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.900 GeneticVariation disease BEFREE Aberrations in the genes TSC1 and TSC2 which encode hamartin and tuberin, respectively, cause TSC. 31140686 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.900 Biomarker disease BEFREE These findings suggest the different contributions between hyperactivated mTORC1 and Tsc1/2 knockout in social behaviors, and reveal the perturbations of cellular homeostasis by hyperactivated mTORC1 as possible underlying mechanisms of neuronal dysfunctions and death in tuberous sclerosis and neurodegenerative diseases. 30808980 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.900 GeneticVariation disease BEFREE In PLAM patients, with and without clinical tuberous sclerosis, mutations in the tuberous sclerosis complex involving the proteins hamartin and tuberin have been found. 31494502 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.900 GeneticVariation disease BEFREE The secondary aim was to confirm the presence of tuberous sclerosis complex (TSC) through the evaluation of germline mutation in TSC1/TSC2 and assess the outcomes in affected fetuses and newborns. 31032681 2019