MONDO_0044970 in Open Targets Platform 26.06, filed under 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.
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.
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.
02/Ranked targets
Targets the Platform ranks for this term, indirect view
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.
03/ClinGen
Gene-disease validity curations for this MONDO term
What this tells youopenclose
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.
Reading the ClinGen validity curations for MONDO:0044970.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.
The same term as ClinGen's file writes it: MONDO:0044970 (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 · 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.
ClinGen's file carries 235 curations for MONDO:0044970, which it labels mitochondrial disease, of its 3,678 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:0044970
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 2026-09-24 · read · ClinGen curationsThe following curated content was obtained from the Clinical Genome Resource (www.clinicalgenome.org): Gene-Disease Validity classifications [2026-09-23 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.
The Platform carries no description for this term.
1 ancestor and 321 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 26.06 · read · Open TargetsOpen Targets Platform release 26.06 (CC0). Buniello A et al. Nucleic Acids Research (2025).
Open Targets counts 7,003 targets for mitochondrial disease in the indirect view; showing 25, in the Platform's own order by overall association score, in pages of 25; Open Targets Platform 26.06, read 2026-09-23 ET.
Targets Open Targets ranks for mitochondrial disease, with the overall association score and the score per data type
The data types are the Platform's own ids as the API carries them on each score: literature, animal_model, genetic_association, genetic_literature, 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 26.06 · read · Open TargetsOpen Targets Platform release 26.06 (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.
