Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.100 GeneticVariation disease BEFREE Tuberous sclerosis complex lymphangioleiomyomatosis (TSC-LAM) is a rare disease, which may develop an intractable pneumothorax. 31612306 2019
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
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
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.100 Biomarker disease BEFREE Using mouse genetics, we find that at the lowest concentrations of metformin that inhibit hepatic mTORC1 signaling, this inhibition is dependent on AMPK and the tuberous sclerosis complex (TSC) protein complex (TSC complex). 28089566 2017
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.100 GeneticVariation disease BEFREE TS pathology is caused by mutations in tuberous sclerosis complex (TSC) genes and is associated with insulin resistance, decreased glycogen synthase kinase 3β (GSK3β) activity, activation of the mammalian target of rapamycin complex 1 (mTORC1), and subsequent increase in protein synthesis. 28646232 2017
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.100 GeneticVariation disease BEFREE Tuberous sclerosis complex (TSC) is an autosomal dominant tumor-suppressor gene syndrome caused by inactivating mutations in either TSC1 or TSC2, and the TSC protein complex is an essential regulator of mTOR complex 1 (mTORC1). 27918305 2017
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.100 Biomarker disease BEFREE Because the product of the TSC2/Tsc2 gene (tuberin) together with hamartin, the product of another TSC gene (TSC1/Tsc1), suppresses mammalian/mechanistic target of rapamycin complex 1 (mTORC1), rapalogs have been used as therapeutic drugs for TSC. 27862655 2017
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.100 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: 6559
Gene Symbol: SLC12A3
SLC12A3
0.100 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 2015
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.100 GeneticVariation disease BEFREE Tuberous sclerosis complex is a multiorgan disease resulting from a mutation of one of two TSC genes. 25591831 2015
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.100 GeneticVariation disease BEFREE Mutations in tuberous sclerosis (TSC) genes cause the genetic disorder TSC, as well as other neoplasms, including lymphangioleiomyomatosis (LAM) and angiomyolipomas (AMLs). 25476905 2014
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.100 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 2014
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.100 GeneticVariation disease BEFREE Diagnosis of tuberous sclerosis is usually made on clinical grounds and eventually confirmed by a genetic test by searching for TSC genes mutations. 24884933 2014
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.100 GeneticVariation disease BEFREE Taken together, our studies raise the possibility of a gene × environment interaction between heterozygous TSC gene mutations and gestational immune activation in the pathogenesis of TSC-related ASD. 21079609 2012
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.100 Biomarker disease BEFREE Recent studies suggest that clinical similarities between BHDS and TSC may be explained by FLCN and TSC proteins functioning on a common pathway, mammalian target of rapamycin. 22571569 2012
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.100 PosttranslationalModification disease BEFREE Biallelic TSC gene inactivation in tuberous sclerosis complex. 20498439 2010
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.100 AlteredExpression disease BEFREE In tuberous sclerosis complex (TSC), a substantially increased risk of developing epilepsy is present as a result of a disruption of a TSC gene expression in the brain and secondary abnormal cellular differentiation, migration, and proliferation. 20358377 2010
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.100 AlteredExpression disease BEFREE A purported mechanism of hamartomatous proliferation in TSC is constitutive activation of the mammalian target of rapamycin (mTOR) signaling pathway dysregulated by a functional loss of TSC genes. 20526286 2010
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.100 GeneticVariation disease BEFREE The tuberous sclerosis (TSC) genes, TSC1 and TSC2, encode hamartin and tuberin, respectively, and are putative tumor suppressor genes that were originally identified due to their involvement in the inherited autosomal dominant disorder tuberous sclerosis. 19250671 2009
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.100 Biomarker disease BEFREE Both diseases are caused by mutations of TSC1 or TSC2 (TSC is tuberous sclerosis complex) that impair GAP (GTPase-activating protein) activity of the TSC1-TSC2 complex for Rheb, leading to inappropriate activity of signalling downstream of mTORC1 (mTOR complex 1). mTOR inhibitors are already used in a variety of clinical settings including as immunosuppressants, anticancer agents and antiproliferative agents in drug-eluting coronary artery stents. 19143643 2009
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.100 Biomarker disease BEFREE Clinical similarities between BHD and tuberous sclerosis complex (TSC) suggest that the BHD and TSC proteins may function within a common pathway. 19234517 2009
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.100 GeneticVariation disease BEFREE Identifying functional polymorphic variants of interacting partners affecting TSC gene functions will delineate the mechanisms leading to TSC disease severity, ultimately resulting in treatment strategies. 19005330 2008
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.100 GeneticVariation disease BEFREE Our knowledge of TSC genetics and pathophysiology has expanded dramatically in recent years: two genetic loci were discovered in the 1990s and recent elucidation of TSC's interaction with the mTOR pathway has changed how we manage the disease. 18414839 2008
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.100 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
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.100 GeneticVariation disease BEFREE Germ-line mutation of either TSC gene leads to the development of the heritable disorder TSC. 15951164 2005
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.100 AlteredExpression disease BEFREE We found that in addition to the differential expression of the TSC genes in some normal tissues compared with that in the TSC-affected fetus, the cellular localization and distribution of hamartin and tuberin were dramatically different in different tissues. 12202993 2003