Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.320 Biomarker disease BEFREE The goals of this study were to perform a functional screen of cell lines from patients with idiopathic autism for defects in PI3K/mTOR signaling, to test if further functional analyses are suitable to detect underlying molecular mechanisms, and to evaluate this approach as a biomarker tool to identify therapeutic targets. 26770665 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.320 GeneticVariation disease BEFREE Based on rare human mutations in PTEN and the PI3K pathway, the authors suggest they have produced a potential animal model of autism with macrocephaly. 16675386 2006
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.320 Biomarker disease CTD_human Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism. 14627686 2003