Genopathy
Gene-Disorder Association · Article
Gene
CYP1B1
Cytochrome P450 Family 1 Subfamily B Member 1
Disorder
Intraocular Pressure Quantitative Trait Locus
First reported 2000
Supporting publications 26
Key publication · gene–disorder Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness.Journal of medical genetics · 2000
Key publication · disorder [Pathogenesis of traumatic glaucoma].Annali di ottalmologia e clinica oculistica · 1950
Manually curated
Association Review

In brief

The association between CYP1B1 (Cytochrome P450 Family 1 Subfamily B Member 1) 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 26
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
CYP1B1

The gene

2 source summaries

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

26 publications

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

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06
Provenance

References & sources

11 references

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

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