Genopathy
Gene-Disorder Association · Article
Gene
GJA3
Gap Junction Protein Alpha 3
Disorder
Cataract 14, Multiple Types
First reported 1999
Supporting publications 43
Key publication · gene–disorder Connexin46 mutations in autosomal dominant congenital cataract.American journal of human genetics · 1999
Key publication · disorder Developmental and spatial regulation of a Dictyostelium prespore gene: cis-acting elements and a cAMP-induced, developmentally regulated DNA binding activity.Development (Cambridge, England) · 1991
Manually curated
Association Review

In brief

The association between GJA3 (Gap Junction Protein Alpha 3) and Cataract 14, Multiple Types is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 202
Symptoms 6
Compounds 0
Trials 0
Publications 43
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
GJA3

The gene

2 source summaries

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

Request access
04
Cataract 14, Multiple Types

The disorder

8 database identifiers

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

Request access
05
Phenotype

Clinical features

1 clinical feature

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

202 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

43 publications

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

Request access
09
Provenance

References & sources

15 references

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

Request access