Genopathy
Gene-Disorder Association · Article
Gene
ABCA4
ATP Binding Cassette Subfamily A Member 4
Disorder
Stargardt Disease 3
First reported 1980
Supporting publications 22
Key publication · disorder Dominantly inherited macular dystrophy with flecks (Stargardt).Archives of ophthalmology (Chicago, Ill. : 1960) · 1980
Manually curated
Association Review

In brief

The association between ABCA4 (ATP Binding Cassette Subfamily A Member 4) and Stargardt Disease 3 is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 29
Symptoms 8
Compounds 0
Trials 0
Publications 22
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
ABCA4

The gene

1 source summary

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

Request access
04
Stargardt Disease 3

The disorder

7 database identifiers

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

Request access
05
Phenotype

Clinical features

5 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

22 publications

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

Request access
09
Provenance

References & sources

13 references

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

Request access