Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796206
Disease: Atkin syndrome
Atkin syndrome
0.600 Biomarker disease CLINGEN The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity. 28576939 2017
CUI: C0796206
Disease: Atkin syndrome
Atkin syndrome
0.600 Biomarker disease CLINGEN De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. 24680889 2014
CUI: C0796206
Disease: Atkin syndrome
Atkin syndrome
0.600 Biomarker disease CLINGEN Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family. 19012350 2008
CUI: C0796206
Disease: Atkin syndrome
Atkin syndrome
0.600 Biomarker disease CLINGEN Mutations in the calcium-related gene IL1RAPL1 are associated with autism. 18801879 2008
CUI: C0796206
Disease: Atkin syndrome
Atkin syndrome
0.600 Biomarker disease GENOMICS_ENGLAND Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family. 19012350 2008
CUI: C0796206
Disease: Atkin syndrome
Atkin syndrome
0.600 Biomarker disease CLINGEN A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family. 16470793 2006
CUI: C0796206
Disease: Atkin syndrome
Atkin syndrome
0.600 Biomarker disease CLINGEN A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. 10471494 1999
CUI: C0796206
Disease: Atkin syndrome
Atkin syndrome
0.600 Biomarker disease CTD_human
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
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