Genopathy
Gene-Disorder Association · Article
Gene
MYOC
Myocilin
Disorder
Intraocular Pressure Quantitative Trait Locus
First reported 1996
Supporting publications 67
Key publication · gene–disorder Probable exclusion of GLC1A as a candidate glaucoma gene in a family with middle-age-onset primary open-angle glaucoma.Ophthalmology · 1996
Key publication · disorder [Pathogenesis of traumatic glaucoma].Annali di ottalmologia e clinica oculistica · 1950
Manually curated
Association Review

In brief

The association between MYOC (Myocilin) and Intraocular Pressure Quantitative Trait Locus is well established and manually curated, supported by 2 contributing sources, 1 of them expert-curated.

Sources 2
Clinical variants 48
Symptoms 0
Compounds 0
Trials 0
Publications 67
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

2 sources

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

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03
MYOC

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
ClinVar and variant evidence

Genetic basis

48 clinical variants

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

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06
Literature

Reading

67 publications

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

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07
Provenance

References & sources

11 references

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

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