Disease or phenotype MONDO

X-linked syndromic intellectual disability

MONDO_0020119 in Open Targets Platform 26.06, filed under nervous system disorder, genetic, familial or congenital disease. The targets below are ranked by the Platform's association score, which the Platform says is not a confidence score; the ClinGen card is a separate question, whether variation in a gene causes a monogenic disease.

Which targets

Indirect is the Platform's own default when listing a disease's targets: the evidence of the term's ontology descendants counts. Direct counts the evidence between the two terms alone. The page says which it shows.

About this term
Ranked targets
ClinGen validity
In the ontology

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This page reads the term's record, its ranked targets and ClinGen's curations from its source while you read the rest; with scripts off the card stays at its loading line. Reload with scripts on to see it, or open the source's own page from the link in the card.

01The term

About this term, from the Platform

What this tells you

The name, the therapeutic areas, the parents and the children in the strip are read from the disease dataset of Open Targets Platform 26.06, built into this site on 2026-09-09; the description, the synonyms and the ranked targets are read live from the Platform's API, which names the same release on every answer, and every figure on this page is the Platform's own.

What the entity is, in the Platform's words: A disease or phenotype in the Platform is understood as any disease, phenotype, biological process or measurement that might have any type of causality relationship with a human target. The EMBL-EBI Experimental Factor Ontology (EFO) is used as scaffold for the disease or phenotype entity. [R16] So a measurement or a biological process has a page here like a disease, and the therapeutic areas in the strip say which kind of term it is. What a target is: A target in the Platform is understood as any naturally-occurring molecule that can be targeted by a medicinal product. EMBL-EBI's Ensembl database is used as source for human targets in the Platform, with the Ensembl gene ID as the primary identifier. [R18]

The ranking is by the Platform's overall association score: The overall association score aims to summarise all the aggregated evidence for a given target-disease association. The score is derived by calculating the harmonic sum of the association score by data source weighted by the data source weights, regardless of their data type categorisation. [R15] And what the score is not: While scores are useful to rank lists of targets or diseases, they should not be interpreted as a confidence score for the target-disease association. [R15] For example, under-studied diseases are unlikely to produce high-scoring targets due to the lack of available evidence. In such diseases, a relatively low-scoring target might still be the top-ranked target and potentially a very interesting lead from a therapeutic standpoint. [R15]

Two views, in the Platform's words. Direct: The Platform refers to associations described by aggregated evidence between two specific terms in our data sources as direct associations. [R15] Indirect, the Platform's own default when listing the targets of a disease: An association page for targets associated with a disease (e.g. Inflammatory Bowel Disease associations page) includes both direct and indirect evidence. [R15] One data type is never propagated: RNA expression data type evidence is not propagated in the ontology. We made this decision to prevent parent terms from having long lists of associated targets with weak RNA expression association scores. [R15]

The data are public domain, Open Targets Platform is marked with CC0 1.0. This dedicates the data to the public domain, allowing downstream users to consume the data without restriction. [R14] and the Platform asks that its latest publication be cited [R17], which is [R03].

A target high on this list is a gene the Platform's sources associate with this term by the Platform's arithmetic over their evidence; choosing a knockdown target from it means reading the evidence behind the row on the Platform's own page, which each row links to, and the order of two rows that share a score can differ between requests, which the page says when it happens.

[R03] Buniello A, Suveges D, Cruz-Castillo C, Llinares MB, Cornu H, Lopez I, et al. (2025). Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery. Nucleic Acids Research 53:D1467-D1475. PMID 39657122, doi 10.1093/nar/gkae1128.
[R14] Open Targets Platform Documentation. Licence. https://platform-docs.opentargets.org/licence, read 2026-09-09.
[R15] Open Targets Platform Documentation. Target-disease associations. https://platform-docs.opentargets.org/associations, read 2026-09-09.
[R16] Open Targets Platform Documentation. Disease or Phenotype. https://platform-docs.opentargets.org/disease-or-phenotype, read 2026-09-09.
[R17] Open Targets Platform Documentation. Citation. https://platform-docs.opentargets.org/citation, read 2026-09-09.
[R18] Open Targets Platform Documentation. Target. https://platform-docs.opentargets.org/target, read 2026-09-09.

A syndromic intellectual disability with an X-linked mode of inheritance.

Kind: a term of the release
Exact synonyms: X-linked syndromic intellectual disability; intellectual disability, X-linked syndromic; mental retardation, X-linked syndromic; syndromic X-linked intellectual disability; syndromic intellectual disability, X-linked
related synonym
narrow synonym
broad synonym
Cross-references: DOID:0060309, OMIMPS:309510, Orphanet:98464
In the ontology: 9 ancestors and 142 descendants, counted from the record

Cross-references are printed as the Platform writes them and are not followed. The synonym relations are the ontology's own; only the exact synonyms are searched on the landing page.

Open Targets Platform, this term's record · Open Targets Platform 26.09 · read 2026-09-25 ET · Open TargetsOpen Targets Platform release 26.09 (CC0). Buniello A et al. Nucleic Acids Research (2025).

Reading this term's record from Open Targets (the disease record).Still reading. A first read of a term can take a while; this page waits up to 70 seconds for it, and its scripts then bring in the panel, or a line saying what did not arrive.

02Ranked targets

Targets the Platform ranks for this term, indirect view

Open Targets counts 4,606 targets for X-linked syndromic intellectual disability in the indirect view; showing 25, in the Platform's own order by overall association score, in pages of 25; Open Targets Platform 26.09, read 2026-09-25 ET.

Targets Open Targets ranks for X-linked syndromic intellectual disability, with the overall association score and the score per data type
Rank	Target	Overall	Scores by data type
Rank1	ATRXATRX chromatin remodelerENSG00000085224 protein codingevidence sources: uniprot_variants, eva, genomics_england, uniprot_literature, gene2phenotype, clingen, orphanet, europepmc	Overall0.87	By data type literature0.33 genetic_association0.94 genetic_literature0.87
Rank2	CASKcalcium/calmodulin dependent serine protein kinaseENSG00000147044 protein codingevidence sources: genomics_england, eva, uniprot_variants, uniprot_literature, gene2phenotype, clingen, orphanet, impc, europepmc	Overall0.86	By data type literature0.41 animal_model0.53 genetic_association0.90 genetic_literature0.91
Rank3	HSD17B10hydroxysteroid 17-beta dehydrogenase 10ENSG00000072506 protein codingevidence sources: genomics_england, uniprot_variants, eva, orphanet, clingen, uniprot_literature, gene2phenotype, europepmc	Overall0.86	By data type literature0.11 genetic_association0.93 genetic_literature0.89
Rank4	GJB1gap junction protein beta 1ENSG00000169562 protein codingevidence sources: uniprot_variants, eva, genomics_england, orphanet, clingen, uniprot_literature, impc, europepmc	Overall0.86	By data type literature0.45 animal_model0.65 genetic_association0.95 genetic_literature0.81
Rank5	MED12mediator complex subunit 12ENSG00000184634 protein codingevidence sources: genomics_england, eva, uniprot_variants, uniprot_literature, orphanet, gene2phenotype, clingen, europepmc	Overall0.85	By data type literature0.19 genetic_association0.91 genetic_literature0.90
Rank6	SLC16A2solute carrier family 16 member 2ENSG00000147100 protein codingevidence sources: uniprot_variants, genomics_england, eva, gene2phenotype, orphanet, clingen, uniprot_literature, europepmc	Overall0.85	By data type literature0.66 genetic_association0.93 genetic_literature0.84
Rank7	SLC6A8solute carrier family 6 member 8ENSG00000130821 protein codingevidence sources: eva, uniprot_variants, genomics_england, clingen, orphanet, gene2phenotype, uniprot_literature, eva_somatic, impc, europepmc	Overall0.85	By data type genetic_literature0.79 literature0.16 genetic_association0.94 somatic_mutation0.44 animal_model0.25
Rank8	PCDH19protocadherin 19ENSG00000165194 protein codingevidence sources: uniprot_variants, eva, genomics_england, gene2phenotype, eva_somatic, uniprot_literature, impc, europepmc	Overall0.85	By data type genetic_literature0.77 literature0.27 genetic_association0.97 somatic_mutation0.61 animal_model0.71
Rank9	OFD1OFD1 centriole and centriolar satellite proteinENSG00000046651 protein codingevidence sources: genomics_england, eva, uniprot_variants, uniprot_literature, gene2phenotype, orphanet, impc, europepmc	Overall0.84	By data type literature0.11 animal_model0.26 genetic_association0.91 genetic_literature0.87
Rank10	ZC4H2zinc finger C4H2-type containingENSG00000126970 protein codingevidence sources: uniprot_variants, genomics_england, eva, uniprot_literature, clingen, orphanet, europepmc, impc	Overall0.84	By data type literature0.31 animal_model0.28 genetic_association0.92 genetic_literature0.88
Rank11	PRPS1phosphoribosyl pyrophosphate synthetase 1ENSG00000147224 protein codingevidence sources: genomics_england, eva, uniprot_variants, uniprot_literature, gene2phenotype, orphanet, europepmc	Overall0.83	By data type literature0.71 genetic_association0.87 genetic_literature0.90
Rank12	MECP2methyl-CpG binding protein 2ENSG00000169057 protein codingevidence sources: eva, genomics_england, uniprot_variants, uniprot_literature, gene2phenotype, orphanet, impc, europepmc	Overall0.83	By data type literature0.19 animal_model0.74 genetic_association0.91 genetic_literature0.87
Rank13	EFNB1ephrin B1ENSG00000090776 protein codingevidence sources: uniprot_variants, eva, genomics_england, orphanet, clingen, gene2phenotype, uniprot_literature, impc, europepmc	Overall0.83	By data type literature0.38 animal_model0.52 genetic_association0.91 genetic_literature0.82
Rank14	RPS6KA3ribosomal protein S6 kinase A3ENSG00000177189 protein codingevidence sources: uniprot_variants, eva, genomics_england, gene2phenotype, clingen, orphanet, uniprot_literature, eva_somatic, impc, europepmc	Overall0.83	By data type genetic_literature0.76 literature0.37 genetic_association0.91 somatic_mutation0.44 animal_model0.50
Rank15	ARXaristaless related homeoboxENSG00000004848 protein codingevidence sources: genomics_england, eva, uniprot_variants, uniprot_literature, orphanet, impc, europepmc	Overall0.83	By data type literature0.12 animal_model0.73 genetic_association0.91 genetic_literature0.92
Rank16	CUL4Bcullin 4BENSG00000158290 protein codingevidence sources: eva, genomics_england, uniprot_variants, clingen, orphanet, gene2phenotype, uniprot_literature, europepmc	Overall0.83	By data type literature0.25 genetic_association0.90 genetic_literature0.86
Rank17	USP9Xubiquitin specific peptidase 9 X-linkedENSG00000124486 protein codingevidence sources: genomics_england, eva, uniprot_variants, gene2phenotype, uniprot_literature, clingen, eva_somatic, europepmc	Overall0.83	By data type literature0.07 genetic_association0.92 somatic_mutation0.19 genetic_literature0.87
Rank18	HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1ENSG00000086758 protein codingevidence sources: uniprot_variants, eva, genomics_england, uniprot_literature, gene2phenotype, europepmc	Overall0.83	By data type literature0.68 genetic_association0.96 genetic_literature0.77
Rank19	KDM5Clysine demethylase 5CENSG00000126012 protein codingevidence sources: uniprot_variants, eva, genomics_england, uniprot_literature, orphanet, gene2phenotype, europepmc, impc	Overall0.83	By data type literature0.32 animal_model0.28 genetic_association0.91 genetic_literature0.82
Rank20	AP1S2adaptor related protein complex 1 subunit sigma 2ENSG00000182287 protein codingevidence sources: genomics_england, eva, orphanet, uniprot_literature, gene2phenotype, impc, europepmc	Overall0.82	By data type literature0.22 animal_model0.27 genetic_association0.89 genetic_literature0.87
Rank21	PHF6PHD finger protein 6ENSG00000156531 protein codingevidence sources: eva, uniprot_variants, genomics_england, gene2phenotype, uniprot_literature, orphanet, clingen, europepmc, impc	Overall0.82	By data type literature0.72 animal_model0.29 genetic_association0.90 genetic_literature0.81
Rank22	FLNAfilamin AENSG00000196924 protein codingevidence sources: eva, genomics_england, uniprot_variants, gene2phenotype, orphanet, uniprot_literature, impc, europepmc	Overall0.82	By data type literature0.46 animal_model0.59 genetic_association0.90 genetic_literature0.84
Rank23	EIF2S3eukaryotic translation initiation factor 2 subunit gammaENSG00000130741 protein codingevidence sources: genomics_england, uniprot_variants, eva, gene2phenotype, orphanet, uniprot_literature, clingen, europepmc	Overall0.82	By data type literature0.68 genetic_association0.86 genetic_literature0.84
Rank24	TIMM8Atranslocase of inner mitochondrial membrane 8AENSG00000126953 protein codingevidence sources: genomics_england, eva, uniprot_variants, orphanet, gene2phenotype, uniprot_literature, clingen, impc, europepmc	Overall0.82	By data type literature0.33 animal_model0.43 genetic_association0.82 genetic_literature0.85
Rank25	SMSspermine synthaseENSG00000102172 protein codingevidence sources: genomics_england, eva, uniprot_variants, uniprot_literature, clingen, orphanet, gene2phenotype, europepmc, impc	Overall0.81	By data type literature0.39 animal_model0.29 genetic_association0.88 genetic_literature0.83

The data types are the Platform's own ids as the API carries them on each score: literature, genetic_association, genetic_literature, animal_model, somatic_mutation. The Platform's documentation gives them no other name, so none is written here. Scores are shown to two decimals; the API carries more places. A row lists the data types the Platform has evidence for on it and no others. The evidence sources under each target are the Platform's own source ids, and each target links to its page on the Platform, where the evidence behind the row is.

Ready in a moment

The release weights its sources as the answer states them: europepmc 0.2; expression_atlas 0.2, not propagated; impc 0.2; cancer_biomarkers 0.5; ot_crispr_validation 0.5; ot_crispr 0.5; encore 0.5.

Open Targets Platform, the targets associated with this term (indirect view) · Open Targets Platform 26.09 · read 2026-09-25 ET · Open TargetsOpen Targets Platform release 26.09 (CC0). Buniello A et al. Nucleic Acids Research (2025). The score is the Platform's association score, which its documentation says should not be interpreted as a confidence score.

Reading the ranked targets from Open Targets.Still reading. A first read of a term can take a while; this page waits up to 70 seconds for it, and its scripts then bring in the panel, or a line saying what did not arrive.

03ClinGen

Gene-disease validity curations for this MONDO term

What this tells you

The curations are read from ClinGen's gene-disease validity download, keyed on the MONDO term Open Targets writes for this entity after an exact character translation and never after a search; a term of another ontology has no counterpart in that file, and the card says so. Each row shows which of ClinGen's classifications it carries, with the procedure version and the date it was made under; nothing here ranks the classifications.

What a classification is about, in ClinGen's words: The ClinGen Gene-Disease Clinical Validity curation process involves evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular monogenic disease. [R20] And what the process is not: This curation process is not intended to be a systematic review of all available literature for a given gene or condition, but instead an overview of the most pertinent evidence required to assign the appropriate classification for a gene-disease relationship at a given time. [R21]

The classification vocabulary is the 8 values ClinGen's own results table lists in its Classification filter control, in the control's own alphabetical order [R23]: Animal Model Only, Definitive, Disputed, Limited, Moderate, No Known Disease Relationship, Refuted, Strong. The order is the control's and carries no strength: nothing here ranks the values, and a value outside that set is shown as the file writes it and marked as unlisted, never mapped to a neighbour. The definitions of the values are in the standard operating procedure, which ClinGen publishes as a document [R22]; this site has not read that document, so no definition is stated here, and the framework paper the procedure rests on is [R06]. Each row carries the procedure version it was made under, as the table does, because rows made under different versions sit side by side.

ClinGen's curated content is public domain: All curated content published by ClinGen is available free of restriction under the CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. However, ClinGen requests that you give attribution to ClinGen and provide the date accessed whenever possible and appropriate. [R19] The attribution in the card's provenance line follows ClinGen's own example statement, and no logo is shown: The ClinGen logo cannot be used without prior approval of the ClinGen Steering Committee. [R19] ClinGen asks that its marker paper [R04] and its 2024 consortium paper [R05] be cited.

A ClinGen classification is a statement about whether variation in a gene causes a monogenic disease. It is not a statement about whether the gene is a knockdown target, and it is not a rank beside the Platform's score above it.

[R04] Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, et al. (2015). ClinGen--the Clinical Genome Resource. N Engl J Med 372:2235-2242. PMID 26014595, doi 10.1056/NEJMsr1406261.
[R05] ClinGen Consortium (2025). The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation. Genet Med 27:101228. PMID 39404758, doi 10.1016/j.gim.2024.101228.
[R06] Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, et al. (2017). Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource. Am J Hum Genet 100:895-906. PMID 28552198, doi 10.1016/j.ajhg.2017.04.015.
[R19] ClinGen, Clinical Genome Resource. Citing ClinGen & Terms of Use. https://clinicalgenome.org/docs/terms-of-use/, read 2026-09-09.
[R20] ClinGen, Clinical Genome Resource. Gene-Disease Validity. https://clinicalgenome.org/curation-activities/gene-disease-validity/, read 2026-09-09.
[R21] ClinGen, Clinical Genome Resource. Gene-Disease Validity Standard Operating Procedure. https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedure/, read 2026-09-09.
[R22] ClinGen, Clinical Genome Resource. Gene-Disease Validity Standard Operating Procedures, Version 12. https://clinicalgenome.org/docs/gene-disease-validity-standard-operating-procedures-version-12/, read 2026-09-09.
[R23] ClinGen, Clinical Genome Resource. ClinGen Gene-Disease Validity Curations. https://search.clinicalgenome.org/kb/gene-validity, read 2026-09-09.

ClinGen's file carries 9 curations for MONDO:0020119, which it labels X-linked syndromic intellectual disability, of its 3,679 rows. Each row is one gene, one mode of inheritance and one expert panel, in the file's own order.

ClinGen gene-disease validity curations for MONDO:0020119
Gene	Classification	Inheritance	Procedure	Classified	Expert panel
GeneLAS1LHGNC:25726	ClassificationLimitedthe report	InheritanceXL	ProcedureSOP8	Classified2021-09-21	PanelIntellectual Disability and Autism Gene Curation Expert Panel
GeneNONOHGNC:7871	ClassificationDefinitivethe report	InheritanceXL	ProcedureSOP9	Classified2023-04-05	PanelIntellectual Disability and Autism Gene Curation Expert Panel
GeneRAB40ALHGNC:25410	ClassificationRefutedthe report	InheritanceXL	ProcedureSOP8	Classified2021-06-15	PanelIntellectual Disability and Autism Gene Curation Expert Panel
GeneCASKHGNC:1497	ClassificationDefinitivethe report	InheritanceXL	ProcedureSOP6	Classified2019-07-09	PanelIntellectual Disability and Autism Gene Curation Expert Panel
GeneRPL10HGNC:10298	ClassificationDefinitivethe report	InheritanceXL	ProcedureSOP11	Classified2024-11-28	PanelIntellectual Disability and Autism Gene Curation Expert Panel
GeneZC4H2HGNC:24931	ClassificationDefinitivethe report	InheritanceXL	ProcedureSOP7	Classified2020-10-07	PanelIntellectual Disability and Autism Gene Curation Expert Panel
GeneDDX3XHGNC:2745	ClassificationDefinitivethe report	InheritanceXL	ProcedureSOP7	Classified2020-05-05	PanelIntellectual Disability and Autism Gene Curation Expert Panel
GeneUSP9XHGNC:12632	ClassificationDefinitivethe report	InheritanceXL	ProcedureSOP8	Classified2021-11-17	PanelIntellectual Disability and Autism Gene Curation Expert Panel
GeneBRWD3HGNC:17342	ClassificationDefinitivethe report	InheritanceXL	ProcedureSOP12	Classified2018-07-18	PanelIntellectual Disability and Autism Gene Curation Expert Panel

The inheritance and procedure columns are the file's own codes (AD, AR, MT, SD, UD, XL; SOP with a version), and the gene is written as the file writes it, with its HGNC id beside it; a door opens this site's gene page by that symbol, which resolves a previous symbol through HGNC where the file's is older than HGNC's current one.

ClinGen gene-disease validity download, the rows for this MONDO term · ClinGen gene-disease validity file created 2026-09-25 · read 2026-09-25 ET · ClinGen curationsThe following curated content was obtained from the Clinical Genome Resource (www.clinicalgenome.org): Gene-Disease Validity classifications [2026-09-25 ET]. CC0 1.0. The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional.

Reading the ClinGen validity curations for MONDO:0020119.Still reading. A first read of a term can take a while; this page waits up to 70 seconds for it, and its scripts then bring in the panel, or a line saying what did not arrive.

04The ontology

Where the release places this term

Parents

Children

Therapeutic areas

The same term as ClinGen's file writes it: MONDO:0020119 (the Monarch Initiative's page), by an exact character translation of the Platform's id.

Open Targets Platform, the disease dataset · Open Targets Platform 26.06 · read 2026-09-09 · Open Targets PlatformOpen Targets Platform is marked with CC0 1.0. Citation requested: Buniello A et al., Nucleic Acids Research (2025), doi 10.1093/nar/gkae1128.