Genopathy
Gene-Disorder Association · Article
Gene
ATP5F1D
ATP Synthase F1 Subunit Delta
Disorder
Mitochondrial Disease
First reported 2018
Supporting publications 1
Key publication · gene–disorder Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.American journal of human genetics · 2018
Key publication · disorder Male sterility due to centriolar-mitochondrial disease of the spermatozoa.The Journal of urology · 1950
Manually curated
Association Review

In brief

The association between ATP5F1D (ATP Synthase F1 Subunit Delta) and Mitochondrial Disease is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 1
Symptoms 0
Compounds 0
Trials 0
Publications 1
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

2 sources

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

Request access
03
ATP5F1D

The gene

1 source summary

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

Request access
04
Mitochondrial Disease

The disorder

4 database identifiers

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

Request access
05
ClinVar and variant evidence

Genetic basis

1 clinical variant

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
06
Literature

Reading

1 publication

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

Request access
07
Provenance

References & sources

4 references

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

Request access