Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group BEFREE In this review, we summarize all the major data describing the synaptic and neuronal functions of IL1RAPL1 and recapitulate most of the genetic deletion identified in humans and associated to intellectual disability (ID) and autism spectrum disorders (ASD). 30548231 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group BEFREE Close examination revealed a 0.5 Mb region of the Xi that transitioned from H3K9me3 heterochromatin to euchromatin within the 3' end of the IL1RAPL1 gene that is part of a common chromosome fragile site that is frequently deleted or rearranged in patients afflicted with intellectual disability and other neurological ailments. 30103804 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity. 28576939 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group BEFREE Our study expands the molecular repertoire of IL1RAPL1 mutations in intellectual disability and points out the need of more accurate clinical descriptions to better define the related phenotype. 27470653 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group BEFREE The aim of this work was to characterize the synaptic consequences of three IL1RAPL1 mutations, two novel causing the deletion of exon 6 (Δex6) and one point mutation (C31R), identified in patients with ID. 25305082 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE Three patients presented with cognitive impairment, reinforcing the association between the disrupted genes (TSPAN7-MRX58, KIAA2022-MRX98, and IL1RAPL1-MRX21/34) and intellectual disability. 26290131 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group BEFREE Intragenic deletions of IL1RAPL1, only rarely identified, have mostly been associated with nonspecific intellectual disability (IDX) and autism spectrum disorder. 23613341 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group BEFREE IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features. 21933724 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group BEFREE It is especially helpful for IL1RAPL1 deletion detection as no clinical markers for MR are available. 22456342 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group BEFREE Mutations in IL1RAPL1 have been found in multiple families with non-syndromic X-linked intellectual disability. 21484992 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group BEFREE Our report confirms the role of the IL1RAPL1 gene in causing nonspecific mental retardation in males and underlines the importance of detailed linkage analysis before candidate gene mutational screening. 16470793 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 GeneticVariation group 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