TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Disease: Encephalopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.310 GeneticVariation group BEFREE Evidence from experimental research shows that encephalopathy in TSC might have a genetic cause, and mTOR activation caused by TSC gene mutation can be directly responsible for the early appearance of seizures and encephalopathy. 26758984 2016
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.310 Biomarker group CTD_human Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex. 21062901 2011