Genopathy
Gene-Disorder Association · Article
Gene
MT-ND6
Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6
Disorder
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
First reported 2001
Supporting publications 24
Key publication · gene–disorder An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome.European journal of human genetics : EJHG · 2001
Key publication · disorder Anopheles gambiae Giles and anopheles melas Theobald in a coastal area of Liberia, West Africa.Transactions of the Royal Society of Tropical Medicine and Hygiene · 1955
Manually curated
Association Review

In brief

The association between MT-ND6 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6) and Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording likely-pathogenic variants and a causative germline mutation.

Sources 4
Clinical variants 4
Symptoms 120
Compounds 0
Trials 0
Publications 24
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

4 sources

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

Request access
03
MT-ND6

The gene

1 source summary

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

Request access
04
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

The disorder

11 database identifiers

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

Request access
05
Phenotype

Clinical features

101 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

4 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

24 publications

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

Request access
09
Provenance

References & sources

18 references

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

Request access