Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		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
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		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
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.460 Biomarker disease HPO
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.360 Biomarker disease 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: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.360 GeneticVariation disease BEFREE Mutations in interleukin-1 receptor accessory protein like 1 (IL1RAPL1) gene have been associated with non-syndromic intellectual disability (ID) and autism spectrum disorder. 25305082 2015
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.360 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: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.360 GeneticVariation disease BEFREE Intragenic deletions of IL1RAPL1, only rarely identified, have mostly been associated with nonspecific intellectual disability (IDX) and autism spectrum disorder. 23613341 2013
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.360 Biomarker disease CTD_human Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. 20479760 2011
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.360 GeneticVariation disease BEFREE In conclusion, coding changes of the IL1RAPL1 gene do not appear to be associated with ASD in selected AGRE families with linkage evidence to the chromosome Xp22.11-p21.2 region. 21491612 2011
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.360 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
CUI: C0025202
Disease: melanoma
melanoma 		0.310 Biomarker disease BEFREE MRX34, a liposome-formulated miRNA-34 mimic, developed by Mirna Therapeutics, becomes the first microRNA therapeutic entering clinical trial for the treatment of hepatocellular carcinoma, renal cell carcinoma, and melanoma. 27988500 2017
CUI: C0025202
Disease: melanoma
melanoma 		0.310 Biomarker disease CTD_human Aggressiveness of human melanoma xenograft models is promoted by aneuploidy-driven gene expression deregulation. 22535842 2012
CUI: C0809983
Disease: Schizophrenia and related disorders
Schizophrenia and related disorders 		0.310 Biomarker group PSYGENET Copy number variants thought to be associated with risk for schizophrenia and related disorders also occur in affected individuals in Palau, specifically 15q11.2 and 1q21.1 deletions, partial duplication of IL1RAPL1 (Xp21.3), and chromosome X duplications (Klinefelter's syndrome). 21982423 2011
CUI: C0809983
Disease: Schizophrenia and related disorders
Schizophrenia and related disorders 		0.310 GeneticVariation group BEFREE Copy number variants thought to be associated with risk for schizophrenia and related disorders also occur in affected individuals in Palau, specifically 15q11.2 and 1q21.1 deletions, partial duplication of IL1RAPL1 (Xp21.3), and chromosome X duplications (Klinefelter's syndrome). 21982423 2011
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.310 Biomarker disease BEFREE Our data further confirm the importance and usefulness of linkage studies for gene mapping in MRX families and demonstrate that IL1RAPL1 plays an important role in the etiology of MRX. 19012350 2008
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.310 GermlineCausalMutation disease ORPHANET Our data further confirm the importance and usefulness of linkage studies for gene mapping in MRX families and demonstrate that IL1RAPL1 plays an important role in the etiology of MRX. 19012350 2008
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.310 GermlineCausalMutation disease ORPHANET A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family. 16470793 2006
CUI: C0796241
Disease: MENTAL RETARDATION, X-LINKED 34 (disorder)
MENTAL RETARDATION, X-LINKED 34 (disorder) 		0.300 Biomarker disease CLINGEN The X-Linked Intellectual Disability Protein IL1RAPL1 Regulates Dendrite Complexity. 28576939 2017
CUI: C0796241
Disease: MENTAL RETARDATION, X-LINKED 34 (disorder)
MENTAL RETARDATION, X-LINKED 34 (disorder) 		0.300 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: C0796241
Disease: MENTAL RETARDATION, X-LINKED 34 (disorder)
MENTAL RETARDATION, X-LINKED 34 (disorder) 		0.300 Biomarker disease CLINGEN Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family. 19012350 2008
CUI: C0796241
Disease: MENTAL RETARDATION, X-LINKED 34 (disorder)
MENTAL RETARDATION, X-LINKED 34 (disorder) 		0.300 Biomarker disease CLINGEN Mutations in the calcium-related gene IL1RAPL1 are associated with autism. 18801879 2008
CUI: C0796241
Disease: MENTAL RETARDATION, X-LINKED 34 (disorder)
MENTAL RETARDATION, X-LINKED 34 (disorder) 		0.300 Biomarker disease CLINGEN A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family. 16470793 2006
CUI: C0796241
Disease: MENTAL RETARDATION, X-LINKED 34 (disorder)
MENTAL RETARDATION, X-LINKED 34 (disorder) 		0.300 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: C0025362
Disease: Mental Retardation
Mental Retardation 		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
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.180 Biomarker disease BEFREE It is especially helpful for IL1RAPL1 deletion detection as no clinical markers for MR are available. 22456342 2012