Genopathy
Gene-Disorder Association · Article
Gene
MICOS13
Mitochondrial Contact Site And Cristae Organizing System Subunit 13
Disorder
Combined Oxidative Phosphorylation Deficiency 37
First reported 1998
Supporting publications 3
Key publication · disorder Redox dependent changes at the heme propionates in cytochrome c oxidase from Paracoccus denitrificans: direct evidence from FTIR difference spectroscopy in combination with heme propionate 13C labeling.Biochemistry · 1998
Manually curated
Association Review

In brief

The association between MICOS13 (Mitochondrial Contact Site And Cristae Organizing System Subunit 13) and Combined Oxidative Phosphorylation Deficiency 37 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 3
Clinical variants 4
Symptoms 61
Compounds 0
Trials 0
Publications 3
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

3 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
MICOS13

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Combined Oxidative Phosphorylation Deficiency 37

The disorder

7 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

36 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

4 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

3 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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09
Provenance

References & sources

8 references

Every source and publication cited across this dossier, as one numbered reference list.

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