Genopathy
Gene-Disorder Association · Article
Gene
MT-ND2
Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 2
Disorder
Leber Plus Disease
First reported 1951
Supporting publications 2
Key publication · disorder [Familial retrobulbar optic neuritis (Leber's disease)].Annali di medicina navale · 1951
Manually curated
Association Review

In brief

The association between MT-ND2 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 2) and Leber Plus Disease is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 5
Symptoms 29
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

1 source

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

Request access
03
MT-ND2

The gene

1 source summary

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

Request access
04
Leber Plus Disease

The disorder

17 database identifiers

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

Request access
05
Phenotype

Clinical features

25 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

5 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