TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.450 Biomarker disease BEFREE Both TSC2(+/-) and TSC2(-/-) neurons display altered synaptic transmission paralleled by molecular changes in pathways associated with autism, suggesting the convergence of pathological mechanisms in ASD. 27052171 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.450 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
0.450 GeneticVariation disease BEFREE Mutations in TSC1 or TSC2 cause the tuberous sclerosis complex (TSC), a disorder characterised by the development of hamartomas or benign tumours in various organs as well as the variable presence of epilepsy, intellectual disability (ID) and autism. 23687350 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.450 GeneticVariation disease BEFREE Higher burdens of rare, potentially deleterious variants were identified in autism cases for three pathway genes previously implicated in syndromic autism spectrum disorder, TSC1, TSC2, and SHANK3, suggesting that genetic variation in these genes also contributes to risk for non-syndromic autism. 22558107 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.450 Biomarker disease CTD_human Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism. 14627686 2003
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.450 GeneticVariation disease LHGDN Genotype and psychological phenotype in tuberous sclerosis. 14985384 2004
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.450 Biomarker disease HPO