TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
0.550 Biomarker group BEFREE In this study, we demonstrated that osteopontin (OPN) was dramatically reduced by loss of TSC1/TSC2 complex in Tsc2-null mouse embryonic fibroblasts (MEFs), rat uterine leiomyoma-derived Tsc2-deficient cells, genetically modified mouse TSC models, and clinical samples. 28013293 2017
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
0.550 Biomarker group BEFREE TSC2-deficient Eker rat uterine leiomyoma ELT3 cells were stably transfected with empty vector or plasmid for the expression of TSC2. 27458154 2016
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
0.550 Biomarker group BEFREE Importantly, rapamycin treatment did not affect the expression of AdPLA2 and the production of PGE2 by TSC2-deficient mouse embryonic fibroblast (Tsc2-/-MEFs), rat uterine leiomyoma-derived ELT3 cells, and LAM patient-associated renal angiomyolipoma-derived "mesenchymal" cells. 25347447 2014
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
0.550 AlteredExpression group BEFREE To examine whether down-regulation of tuberin, a TSC2 gene product, is present in human uterine leiomyoma, we analyzed leiomyoma and matched myometrium tissues from 22 Chinese patients with Western blotting and real-time polymerase chain reaction analyses, and found that the expression of tuberin was significantly increased in leiomyoma tissues compared with matched myometrium tissues with inhibition of both the mammalian target of rapacmycin pathway and mitogen-activated protein kinase pathways. 21145542 2011
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
0.550 AlteredExpression group BEFREE These rats develop uterine leiomyomata as a consequence of loss of Tsc2 function and up-regulation of mTOR signaling. 19622772 2009
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
0.550 Biomarker group CTD_human Interaction between genetic susceptibility and early-life environmental exposure determines tumor-suppressor-gene penetrance. 15937110 2005
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
0.550 Biomarker group MGD