TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Disease: Episodic Kinesigenic Dyskinesia 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		0.030 Biomarker disease BEFREE However, co-ablation of Lkb1 and Tsc1, an mTOR repressor, results in an early developing, aggressive form of PKD. 29483507 2018
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		0.030 Biomarker disease BEFREE Loss of Fnip1 synergized with Tsc1 loss to hyperactivate mTOR, increase Erk activation, and greatly accelerate the development of PKD. 29897930 2018
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		0.030 Biomarker disease BEFREE We report a PKD mouse model created by knocking out Tsc1 in a subset of renal tubular cells. 19692352 2009