Genopathy
Gene-Disorder Association · Article
Gene
APC
APC Regulator Of Wnt Signaling Pathway
Disorder
5q22 Microdeletion Syndrome
Manually curated
Association Review

In brief

The association between APC (APC Regulator Of Wnt Signaling Pathway) and 5q22 Microdeletion Syndrome is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1
Clinical variants 0
Symptoms 37
Compounds 0
Trials 0
Publications 0
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
APC

The gene

1 source summary

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

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04
5q22 Microdeletion Syndrome

The disorder

5 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

35 clinical features

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

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06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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07
Provenance

References & sources

4 references

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

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