Genopathy
Gene-Disorder Association · Article
Gene
STAT5B
Signal Transducer And Activator Of Transcription 5B
Disorder
Laron Syndrome With Immunodeficiency
First reported 2003
Supporting publications 11
Key publication · disorder Growth hormone insensitivity associated with a STAT5b mutation.The New England journal of medicine · 2003
Manually curated
Association Review

In brief

The association between STAT5B (Signal Transducer And Activator Of Transcription 5B) and Laron Syndrome With Immunodeficiency is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 2
Clinical variants 464
Symptoms 0
Compounds 0
Trials 0
Publications 11
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

2 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
STAT5B

The gene

1 source summary

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

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04
Laron Syndrome With Immunodeficiency

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
ClinVar and variant evidence

Genetic basis

464 clinical variants

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

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06
Literature

Reading

11 publications

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

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07
Provenance

References & sources

12 references

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

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