Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked
0.580 Biomarker disease BEFREE Interleukin-1 receptor accessory protein-like 1 (IL1RAPL1) is associated with X-linked mental retardation and autism spectrum disorder. 23785489 2013
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked
0.580 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: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked
0.580 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: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked
0.580 Biomarker disease LHGDN Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family. 19012350 2008
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked
0.580 Biomarker disease CTD_human Mutations in the calcium-related gene IL1RAPL1 are associated with autism. 18801879 2008
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked
0.580 GeneticVariation disease BEFREE Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family. 19012350 2008
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked
0.580 GeneticVariation disease BEFREE In humans, alterations in IL1RAPL1 cause X-linked mental retardation and loss of WWOX is associated with Tau phosphorylation. 16221525 2006
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked
0.580 GeneticVariation disease BEFREE A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family. 16470793 2006
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked
0.580 GeneticVariation disease BEFREE IL1RAPL1 (interleukin-1 receptor accessory protein-like, gene 1) has recently been shown to be mutated in patients with X-linked mental retardation. 15300857 2004
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked
0.580 GeneticVariation disease BEFREE Gene localization was determined by linkage analysis in 5 families with non-specific X-linked mental retardation (MRX) and were MRX1, Xp11.4-q21.31; MRX10, Xp21.3-p11.4; MRX11, Xp21.3-p11.22; MRX12, Xp21.3-q21.1; and MRX13, Xp22.3-q21.22. 1605217 1992
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked
0.580 Biomarker disease GENOMICS_ENGLAND