Genopathy
Gene-Disorder Association · Article
Gene
CTNNA1
Catenin Alpha 1
Disorder
Colorectal Cancer
First reported 1993
Supporting publications 33
Key publication · gene–disorder Poorly differentiated colon carcinoma cell lines deficient in alpha-catenin expression express high levels of surface E-cadherin but lack Ca(2+)-dependent cell-cell adhesion.Cell adhesion and communication · 1993
Key publication · disorder A review of colon cancer; presentation of 14 cases concerning cancer of the colon.Virginia medical monthly · 1950
Manually curated
Association Review

In brief

The association between CTNNA1 (Catenin Alpha 1) and Colorectal Cancer is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 13
Symptoms 15
Compounds 0
Trials 0
Publications 33
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
CTNNA1

The gene

1 source summary

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

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04
Colorectal Cancer

The disorder

23 database identifiers

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

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05
Phenotype

Clinical features

6 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

13 clinical variants

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

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07
Literature

Reading

33 publications

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

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08
Provenance

References & sources

14 references

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

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