Genopathy
Gene-Disorder Association · Article
Gene
MT-CO1
Mitochondrially Encoded Cytochrome C Oxidase I
Disorder
Leber Hereditary Optic Neuropathy, Modifier Of
First reported 1992
Supporting publications 6
Key publication · gene–disorder A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I.American journal of human genetics · 1992
Key publication · disorder Molybdenum deficiency in Dunkirk silty clay loam.Science (New York, N.Y.) · 1950
Manually curated
Association Review

In brief

The association between MT-CO1 (Mitochondrially Encoded Cytochrome C Oxidase I) and Leber Hereditary Optic Neuropathy, Modifier Of is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic and likely-pathogenic variants.

Sources 3
Clinical variants 3
Symptoms 28
Compounds 0
Trials 0
Publications 6
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

3 sources

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

Request access
03
MT-CO1

The gene

1 source summary

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

Request access
04
Leber Hereditary Optic Neuropathy, Modifier Of

The disorder

14 database identifiers

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

Request access
05
Phenotype

Clinical features

26 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

3 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

6 publications

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

Request access
09
Provenance

References & sources

14 references

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

Request access