PAX6 and Microphthalmia: Association Evidence

Gene-Disorder Association · Article

Gene

PAX6

Paired Box 6

Disorder

First reported 1994

Supporting publications 8

Key publication · gene–disorder PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects.Nature genetics · 1994

Key publication · disorder [Some mutations affecting the eyes, collected as examples in the canton of Neuchatel and the Jura Bernois (congenital aniridia, universal albinism, congenital anophthalmos, total achromatopsia, oligophrenia associated with keratoconus, with ectopy of the crystalline, with congenital cataract and with atrophy of the optic nerve)].Bulletin der Schweizerischen Akademie der Medizinischen Wissenschaften · 1950

Manually curated

Association Review

In brief

The association between PAX6 (Paired Box 6) and Microphthalmia is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2

Clinical variants 127

Symptoms 0

Compounds 0

Trials 0

Publications 8

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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Provenance

Evidence and sources

2 sources

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

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PAX6

The gene

1 source summary

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

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Microphthalmia

The disorder

7 database identifiers

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

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ClinVar and variant evidence

Genetic basis

127 clinical variants

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

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Literature

Reading

8 publications

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

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Provenance

References & sources

11 references

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

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