Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.180 | 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 | ||||
|
0.180 | Biomarker | disease | BEFREE | It is especially helpful for IL1RAPL1 deletion detection as no clinical markers for MR are available. | 22456342 | 2012 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | All together, our results indicate that mutations in IL1RAPL1 cause a spectrum of neurological impairments ranging from MR to high functioning autism. | 18801879 | 2008 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | Secondly, the relative prevalence of genes causing only non-syndromic mental retardation (IL1RAPL1, TM4SF2, ZNF41, FTSJ1, DLG3, FACL4, PAK3, ARHGEF6, FMR2, and GDI) is summarised. | 16118346 | 2006 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | Our data are consistent with the association of IL1RAPL1 gene deletion and MR in the majority of patients with cGKD and deletions extending telomeric from DAX1. | 15300857 | 2004 | ||||
|
0.180 | Biomarker | disease | BEFREE | The results explain the development of MR in this boy in terms of contiguous gene syndrome, and suggest the importance of IL1RAPL analysis in patients with adrenal hypoplasia and MR. | 12940459 | 2003 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | Further investigations by FISH showed that the IL1RAPL1 gene at Xp21.3 was disrupted by the X chromosome inversion and therefore its inactivation may be related to the mental retardation observed in our patients. | 14610352 | 2003 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | The literature contains multiple reports of patients with non-syndromic mental retardation in association with an Xp22.1-Xp21.3 microdeletion of a marker which lies within the IL1RAPL1 gene. | 10757639 | 2000 | ||||
|
0.180 | CausalMutation | disease | CLINVAR |