Genopathy
Gene-Disorder Association · Article
Gene
SKIC3
SKI3 Subunit Of Superkiller Complex
Disorder
Diarrhea 5, With Tufting Enteropathy, Congenital
First reported 1978
Key publication · disorder Familial enteropathy: a syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villus atrophy.Gastroenterology · 1978
Manually curated
Association Review

In brief

The association between SKIC3 (SKI3 Subunit Of Superkiller Complex) and Diarrhea 5, With Tufting Enteropathy, Congenital is reported, with clinical genetic testing available.

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
SKIC3

The gene

1 source summary

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

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04
Diarrhea 5, With Tufting Enteropathy, Congenital

The disorder

12 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

29 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

7 references

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

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