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: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.330 Biomarker disease BEFREE Previous research showed reversal of autism-like social deficits in Tsc1 <sup>+/-</sup> and Tsc2 <sup>+/-</sup> mouse models by mammalian target of rapamycin (mTOR) inhibitors. 27263037 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.330 Biomarker disease CTD_human Cognitive deficits in Tsc1+/- mice in the absence of cerebral lesions and seizures. 18067135 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.330 GeneticVariation disease LHGDN Genotype and psychological phenotype in tuberous sclerosis. 14985384 2004
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.330 GeneticVariation disease BEFREE The presence of autism/PDD may arise if the TSC gene mutations occur at critical stages of neural development in neural tissue of brain regions critical in the development of autism. 9813776 1998