Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 Biomarker disease BEFREE Study of TSC has shed light on the critical role of the mTOR pathway in neurodevelopment. 30976976 2020
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 Biomarker disease BEFREE These results identify a novel mechanistic link between mTOR and orexin in the hypothalamus related to sleep dysfunction and suggest a targeted therapeutic approach to sleep disorders in TSC. 31605778 2020
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 Biomarker disease BEFREE Adipocyte-specific Raptor KO mice experienced exacerbated alcohol-induced steatosis, but neither adipocyte-specific mTOR nor adipocyte-specific tuberous sclerosis complex 1 KO mice exhibited similar detrimental effects. 31733185 2020
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 Biomarker disease BEFREE Mechanistic target of rapamycin inhibitors have been proven to be effective in epilepsy treatment in individuals with TSC. 29941212 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 Biomarker disease BEFREE Effects from mTOR overactivity on white matter microstructural integrity in TSC were modified through pharmacologic inhibition of mTOR. 30424962 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 Biomarker disease BEFREE Because of its effect on the mTOR pathway, there may be a role for metformin in slowing or reversing growth of life-threatening hamartomas in tuberous sclerosis complex. 30290005 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 GeneticVariation disease BEFREE A broad spectrum of malformations of cortical development, such as focal cortical dysplasia (FCD) and tuberous sclerosis complex (TSC), have been linked to either germline or somatic mutations in mTOR pathway-related genes, commonly summarised under the umbrella term 'mTORopathies'. 30901081 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 Biomarker disease BEFREE The advent of mTOR inhibitors offers great promise in the treatment of TSC-associated epilepsy and other neurodevelopmental manifestations of the disease; however, the optimal timing of therapeutic intervention is not yet fully understood. 31018109 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 Biomarker disease BEFREE Tuberous sclerosis complex (TSC) 1 and 2 function as tumor suppressors by inactivating the mammalian target of rapamycin (mTOR) pathway. 30842342 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 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: 2475
Gene Symbol: MTOR
MTOR
0.100 Biomarker disease BEFREE Recently, the mTOR inhibitor everolimus was approved as adjunctive therapy for TSC-associated partial seizures. 31335226 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 Biomarker disease BEFREE To investigate whether mammalian target of rapamycin inhibitor everolimus can improve intellectual disability, autism, and other neuropsychological deficits in children with tuberous sclerosis complex (TSC). 31217257 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 Biomarker disease BEFREE The aim of the present study was to evaluate the efficacy and safety of mTOR inhibitors for improving the clinical symptoms of TSC. 30760308 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 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: 2475
Gene Symbol: MTOR
MTOR
0.100 GeneticVariation disease BEFREE Protocolled treatment of TSC-associated epilepsy with the mTOR inhibitor everolimus has recently been approved by The Danish Medicines Council in Denmark. 31791480 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 GeneticVariation disease BEFREE The decrease in CD4<sup>+</sup> T-cell survival following fungal sepsis was ameliorated in mice with a T-cell-specific mTOR deletion, whereas it was exacerbated in mice with a T-cell-specific tuberous sclerosis complex (TSC)1 deletion. 31668132 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 Biomarker disease BEFREE Various tumors and hamartomas affecting different organs are the pathological hallmarks of the disease, especially cortical tubers of the brain, but specific cellular and molecular abnormalities, such as involving the mechanistic target of rapamycin (mTOR) pathway, have been identified that also cause or contribute to neurological manifestations of TSC independent of gross structural lesions. 31838997 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 Biomarker disease BEFREE Here, we further examined whether hypervascularization occurs in animal models of global and focal MCD with and without seizures, and whether it is sensitive to the mTOR blocker, rapamycin, that is approved for epilepsy treatment in tuberous sclerosis complex. 31125447 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 AlteredExpression disease BEFREE These data demonstrate that neuronal mTOR hyperactivity levels influence the severity of epilepsy and associated neuropathology in experimental TSC and FCD. 30700531 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 Biomarker disease BEFREE Also included is the utilization of mTOR inhibitors in both advanced renal cell carcinoma (RCC) and in patients with tuberous sclerosis complex (TSC) associated angiomyolipoma (AML). 31080770 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 Biomarker disease BEFREE Trials of mTOR inhibitors in tuberous sclerosis complex have demonstrated that inhibition of mTOR activation in mTORopathies can reduce seizure frequency. 30762606 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 GeneticVariation disease BEFREE Mutations were detected in 3 (21%) of 14 analyzed tumors: (1) c.3200A>T substitution in PIK3CB encoding PI3K 110β subunit, (2) c.1040A>G substitution in tuberous sclerosis complex (TSC2) encoding tuberin, mTOR down-regulator (3) c.6625C>G substitution in mTOR. 28777148 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 Biomarker disease BEFREE Treatment with the mTOR inhibitor rapamycin improved social interaction deficits in mouse models of TSC. 30621732 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 Biomarker disease BEFREE Loss of the Pten (phosphatase and tensin homolog) gene has been demonstrated to result in hyperactivation of the mammalian target of rapamycin (mTOR) pathway, a signaling pathway common to many disease etiologies, including tuberous sclerosis complex, Fragile X syndrome, and schizophrenia. 30864513 2019
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 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