TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751780
Disease: Biotin-Responsive Encephalopathy
Biotin-Responsive Encephalopathy
0.300 Biomarker disease CTD_human The natural history and treatment of epilepsy in a murine model of tuberous sclerosis. 17484760 2007