TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Disease: Brain Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006111
Disease: Brain Diseases
Brain Diseases 		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
CUI: C0006111
Disease: Brain Diseases
Brain Diseases 		0.310 Biomarker group LHGDN These results indicate that hamartin binds to NADE to regulate neuronal cell function and loss of this association is likely to contribute to the brain pathology in TSC. 17355907 2007