Genopathy
Gene-Disorder Association · Article
Gene
RBCK1
RANBP2-Type And C3HC4-Type Zinc Finger Containing 1
Disorder
Autoinflammatory Syndrome With Pyogenic Bacterial Infection And Amylopectinosis
First reported 2012
Supporting publications 1
Key publication · disorder Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.Nature immunology · 2012
Manually curated
Association Review

In brief

The association between RBCK1 (RANBP2-Type And C3HC4-Type Zinc Finger Containing 1) and Autoinflammatory Syndrome With Pyogenic Bacterial Infection And Amylopectinosis is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 1
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
RBCK1

The gene

1 source summary

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

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04
Autoinflammatory Syndrome With Pyogenic Bacterial Infection And Amylopectinosis

The disorder

4 database identifiers

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

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05
Literature

Reading

1 publication

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

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06
Provenance

References & sources

4 references

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

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