Genopathy
Gene-Disorder Association · Article
Gene
APC
APC Regulator Of Wnt Signaling Pathway
Disorder
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
First reported 1998
Supporting publications 14
Key publication · gene–disorder [A case of hepatic metastasis of rectal cancer with familial adenomatous polyposis treated by transarterial administration of low-dose leucovorin and 5-FU].Gan to kagaku ryoho. Cancer & chemotherapy · 1998
Key publication · disorder [Gastric polyposis during megaloblastic anemia].Algerie medicale · 1951
Manually curated
Association Review

In brief

The association between APC (APC Regulator Of Wnt Signaling Pathway) and Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 183
Symptoms 12
Compounds 0
Trials 0
Publications 14
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

4 sources

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
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach

The disorder

10 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

183 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

14 publications

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

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09
Provenance

References & sources

15 references

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

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