Genopathy
Gene-Disorder Association · Article
Gene
COLGALT1
Collagen Beta(1-O)Galactosyltransferase 1
Disorder
Familial Porencephaly
First reported 1981
Supporting publications 2
Key publication · disorder Hereditary diseases of the eye in a study of blind and partially sighted.Acta ophthalmologica · 1981
Manually curated
Association Review

In brief

The association between COLGALT1 (Collagen Beta(1-O)Galactosyltransferase 1) and Familial Porencephaly is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1
Clinical variants 0
Symptoms 7
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
COLGALT1

The gene

1 source summary

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

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04
Familial Porencephaly

The disorder

6 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

6 references

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

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