Genopathy
Gene-Disorder Association · Article
Gene
PAX6
Paired Box 6
Disorder
Intraocular Pressure Quantitative Trait Locus
First reported 2008
Supporting publications 2
Key publication · gene–disorder Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother.Ophthalmic genetics · 2008
Key publication · disorder [Pathogenesis of traumatic glaucoma].Annali di ottalmologia e clinica oculistica · 1950
Manually curated
Association Review

In brief

The association between PAX6 (Paired Box 6) and Intraocular Pressure Quantitative Trait Locus is reported, with clinical genetic testing available.

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

1 source

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
Intraocular Pressure Quantitative Trait Locus

The disorder

12 database identifiers

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

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05
Literature

Reading

2 publications

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

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06
Provenance

References & sources

4 references

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

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