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 | ||||
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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 | ||||
|
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 | ||||
|
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 | ||||
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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 | ||||
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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 | ||||
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0.450 | GeneticVariation | disease | LHGDN | Genotype and psychological phenotype in tuberous sclerosis. | 14985384 | 2004 | ||||
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0.450 | Biomarker | disease | HPO |