TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Disease: Fibroid Tumor ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023267
Disease: Fibroid Tumor
Fibroid Tumor 		0.310 AlteredExpression disease 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: C0023267
Disease: Fibroid Tumor
Fibroid Tumor 		0.310 Biomarker disease CTD_human Interaction between genetic susceptibility and early-life environmental exposure determines tumor-suppressor-gene penetrance. 15937110 2005