Genopathy
Gene-Disorder Association · Article
Gene
NDUFAF5
NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 5
Disorder
Mitochondrial Complex I Deficiency, Nuclear Type 1
First reported 2012
Supporting publications 3
Key publication · gene–disorder Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.Journal of inherited metabolic disease · 2012
Key publication · disorder The selection of Chinese hamster cells deficient in oxidative energy metabolism.Somatic cell genetics · 1976
Manually curated
Association Review

In brief

The association between NDUFAF5 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 5) and Mitochondrial Complex I Deficiency, Nuclear Type 1 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 29
Symptoms 96
Compounds 0
Trials 0
Publications 3
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
NDUFAF5

The gene

1 source summary

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

Request access
04
Mitochondrial Complex I Deficiency, Nuclear Type 1

The disorder

16 database identifiers

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

Request access
05
Phenotype

Clinical features

75 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

29 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

3 publications

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

Request access
09
Provenance

References & sources

11 references

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

Request access