CTRCT27 and Cataract 27: Association Evidence

Gene-Disorder Association · Article

Gene

CTRCT27

Cataract, Congenital, Nuclear Progressive

Disorder

First reported 1979

Key publication · disorder Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobility of some enzymes known to be glycoproteins. II. Enzymes studies.Annals of human genetics · 1979

Manually curated

Association Review

In brief

The association between CTRCT27 (Cataract, Congenital, Nuclear Progressive) and Cataract 27 is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1

Clinical variants 0

Symptoms 0

Compounds 0

Trials 0

Publications 0

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

1 source

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

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Cataract 27

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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Provenance

References & sources

1 reference

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

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