Genopathy
Gene-Disorder Association · Article
Gene
NFAT5
Nuclear Factor Of Activated T Cells 5
Disorder
Granulomatous Disease, Chronic, Autosomal Recessive, 3
First reported 1983
Key publication · disorder Chronic granulomatous disease, a heterogeneous syndrome.Human genetics · 1983
Manually curated
Association Review

In brief

The association between NFAT5 (Nuclear Factor Of Activated T Cells 5) and Granulomatous Disease, Chronic, Autosomal Recessive, 3 is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 30
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
NFAT5

The gene

1 source summary

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

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04
Granulomatous Disease, Chronic, Autosomal Recessive, 3

The disorder

6 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

10 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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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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