autosomal recessive disease

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.

1. [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.
2. [R14] Open Targets Platform Documentation. Licence. https://platform-docs.opentargets.org/licence, read 2026-09-09.
3. [R15] Open Targets Platform Documentation. Target-disease associations. https://platform-docs.opentargets.org/associations, read 2026-09-09.
4. [R16] Open Targets Platform Documentation. Disease or Phenotype. https://platform-docs.opentargets.org/disease-or-phenotype, read 2026-09-09.
5. [R17] Open Targets Platform Documentation. Citation. https://platform-docs.opentargets.org/citation, read 2026-09-09.
6. [R18] Open Targets Platform Documentation. Target. https://platform-docs.opentargets.org/target, read 2026-09-09.

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.

1. [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.
2. [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.
3. [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.
4. [R19] ClinGen, Clinical Genome Resource. Citing ClinGen & Terms of Use. https://clinicalgenome.org/docs/terms-of-use/, read 2026-09-09.
5. [R20] ClinGen, Clinical Genome Resource. Gene-Disease Validity. https://clinicalgenome.org/curation-activities/gene-disease-validity/, read 2026-09-09.
6. [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.
7. [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.
8. [R23] ClinGen, Clinical Genome Resource. ClinGen Gene-Disease Validity Curations. https://search.clinicalgenome.org/kb/gene-validity, read 2026-09-09.