Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.660 Biomarker group 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
0.660 GeneticVariation group 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 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.660 Biomarker group MGD Loss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficits. 25155956 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.660 Biomarker group BEFREE Loss of Tsc2 in Purkinje cells is associated with autistic-like behavior in a mouse model of tuberous sclerosis complex. 23123587 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.660 GeneticVariation group 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
0.660 Biomarker group MGD Rapamycin reverses impaired social interaction in mouse models of tuberous sclerosis complex. 23250422 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.660 GeneticVariation group BEFREE Epilepsy and Tsc2 haploinsufficiency lead to autistic-like social deficit behaviors in rats. 20927644 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.660 Biomarker group CTD_human Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism. 14627686 2004
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.660 GeneticVariation group LHGDN people with TSC2 mutations were significantly more likely than those with TSC1 mutations to have autistic disorder, a low IQ, and a history of infantile spasms; low IQ was independently associated with both TSC2 mutations and a history of infantile spasm 14985384 2004
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.660 Biomarker group HPO