Genopathy
Gene-Disorder Association · Article
Gene
STAT5B
Signal Transducer And Activator Of Transcription 5B
Disorder
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
First reported 1966
Supporting publications 9
Key publication · disorder Genetic pituitary dwarfism with high serum concentation of growth hormone--a new inborn error of metabolism?Israel journal of medical sciences · 1966
Manually curated
Association Review

In brief

The association between STAT5B (Signal Transducer And Activator Of Transcription 5B) and Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 464
Symptoms 33
Compounds 0
Trials 0
Publications 9
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

4 sources

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

Request access
03
STAT5B

The gene

1 source summary

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

Request access
04
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive

The disorder

6 database identifiers

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

Request access
05
Phenotype

Clinical features

8 clinical features

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

Request access
06
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.

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

9 publications

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

Request access
09
Provenance

References & sources

14 references

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

Request access