Genopathy
Gene-Disorder Association · Article
Gene
OTULIN
OTU Deubiquitinase With Linear Linkage Specificity
Disorder
Immunodeficiency 107 Invasive Staphylococcus Aureus Infection
First reported 2011
Supporting publications 2
Key publication · disorder Serum trough IgG level and annual intravenous immunoglobulin dose are not related to body size in patients on regular replacement therapy.Drug metabolism letters · 2011
Manually curated
Association Review

In brief

The association between OTULIN (OTU Deubiquitinase With Linear Linkage Specificity) and Immunodeficiency 107 Invasive Staphylococcus Aureus Infection is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, causative variation, and a susceptibility locus.

Sources 4
Clinical variants 7
Symptoms 13
Compounds 0
Trials 0
Publications 2
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
OTULIN

The gene

1 source summary

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

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04
Immunodeficiency 107 Invasive Staphylococcus Aureus Infection

The disorder

7 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

4 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

7 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

2 publications

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

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09
Provenance

References & sources

8 references

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

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