Disease: Autistic Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.460 Biomarker disease BEFREE IL1RAPL1 associated with mental retardation and autism regulates the formation and stabilization of glutamatergic synapses of cortical neurons through RhoA signaling pathway. 23785489 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.460 GeneticVariation disease BEFREE Mutations of the Interleukin-1-receptor accessory protein like 1 (IL1RAPL1) gene are associated with cognitive impairment ranging from non-syndromic X-linked mental retardation to autism. 21926414 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.460 GeneticVariation disease BEFREE We also analyzed ACSL4 and DLG3, which have previously been known to cause XLMR and IL1RAPL2, a homologous gene for IL1RAPL1 that is mutated in autism and XLMR. 21384559 2011
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.460 GeneticVariation disease BEFREE Mutations or deletions in IL1RAPL1 have been previously reported in three families with autism. 20437600 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.460 Biomarker disease CTD_human Mutations or deletions in IL1RAPL1 have been previously reported in three families with autism. 20437600 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.460 GeneticVariation disease BEFREE Mutations in IL1RAPL1 have recently been associated with autism spectrum disorders and a missense mutation (R102Q) on NCS-1 has been found in one individual with autism. 20479890 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.460 Biomarker disease CTD_human All together, our results indicate that mutations in IL1RAPL1 cause a spectrum of neurological impairments ranging from MR to high functioning autism. 18801879 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.460 GeneticVariation disease BEFREE Furthermore, we identified by comparative genomic hybridization a large intragenic deletion of exons 3-7 of IL1RAPL1 in three brothers with autism and/or MR. 18801879 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.460 Biomarker disease HPO