Genopathy
Gene-Disorder Association · Article
Gene
MT-ND3
Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 3
Disorder
Mitochondrial Complex I Deficiency, Mitochondrial Type 1
First reported 2001
Supporting publications 14
Key publication · disorder Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.Annals of neurology · 2001
Manually curated
Association Review

In brief

The association between MT-ND3 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 3) and Mitochondrial Complex I Deficiency, Mitochondrial Type 1 is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording pathogenic variants and causative variation.

Sources 2
Clinical variants 3
Symptoms 0
Compounds 0
Trials 0
Publications 14
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

2 sources

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

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03
MT-ND3

The gene

1 source summary

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

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04
Mitochondrial Complex I Deficiency, Mitochondrial Type 1

The disorder

5 database identifiers

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

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05
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.

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06
Literature

Reading

14 publications

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

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07
Provenance

References & sources

11 references

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

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