Genopathy
Gene-Disorder Association · Article
Gene
COX10
Cytochrome C Oxidase Assembly Factor Heme A:Farnesyltransferase COX10
Disorder
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
First reported 2000
Supporting publications 2
Key publication · gene–disorder A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.Human molecular genetics · 2000
Key publication · disorder Letter: A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness.The Journal of pediatrics · 1975
Manually curated
Association Review

In brief

The association between COX10 (Cytochrome C Oxidase Assembly Factor Heme A:Farnesyltransferase COX10) and Mitochondrial Complex Iv Deficiency, Nuclear Type 1 is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic and likely-pathogenic variants.

Sources 2
Clinical variants 91
Symptoms 77
Compounds 0
Trials 0
Publications 2
01
At a glance

Association overview

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

Request access
02
Provenance

Evidence and sources

2 sources

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

Request access
03
COX10

The gene

1 source summary

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

Request access
04
Mitochondrial Complex Iv Deficiency, Nuclear Type 1

The disorder

19 database identifiers

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

Request access
05
Phenotype

Clinical features

55 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

91 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

2 publications

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

Request access
09
Provenance

References & sources

8 references

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

Request access