Genopathy
Gene-Disorder Association · Article
Gene
RNF157
Ring Finger Protein 157
Disorder
Chronic Granulomatous Disease
First reported 1959
Key publication · disorder A fatal granulomatous disease of childhood; the clinical, pathological, and laboratory features of a new syndrome.A.M.A. journal of diseases of children · 1959
Association Review

In brief

The association between RNF157 (Ring Finger Protein 157) and Chronic Granulomatous Disease is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 1
Symptoms 22
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
RNF157

The gene

1 source summary

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

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04
Chronic Granulomatous Disease

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

22 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

1 clinical variant

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

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07
Provenance

References & sources

5 references

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

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