Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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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 | ||||
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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 | ||||
|
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 | ||||
|
0.460 | GeneticVariation | disease | BEFREE | Mutations or deletions in IL1RAPL1 have been previously reported in three families with autism. | 20437600 | 2010 | ||||
|
0.460 | Biomarker | disease | CTD_human | Mutations or deletions in IL1RAPL1 have been previously reported in three families with autism. | 20437600 | 2010 | ||||
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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 | ||||
|
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 | ||||
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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 | ||||
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0.460 | Biomarker | disease | HPO |