Genopathy
Gene-Disorder Association · Article
Gene
PAX6
Paired Box 6
Disorder
Coloboma Of Macula
First reported 2002
Supporting publications 3
Key publication · gene–disorder National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.Journal of medical genetics · 2002
Key publication · disorder [Subconjunctival chondroma associated with congenital coloboma of the upper lid and defect of the lacrimal duct].Klinische Monatsblatter fur Augenheilkunde und fur augenarztliche Fortbildung · 1950
Manually curated
Association Review

In brief

The association between PAX6 (Paired Box 6) and Coloboma Of Macula is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 2
Symptoms 3
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.

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02
Provenance

Evidence and sources

3 sources

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

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03
PAX6

The gene

1 source summary

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

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04
Coloboma Of Macula

The disorder

14 database identifiers

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

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05
Phenotype

Clinical features

1 clinical feature

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

2 clinical variants

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

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07
Literature

Reading

3 publications

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

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08
Provenance

References & sources

9 references

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

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