Genopathy
Gene-Disorder Association · Article
Gene
GATA3
GATA Binding Protein 3
Disorder
Hypoparathyroidism
First reported 2005
Supporting publications 7
Key publication · gene–disorder Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome.The Journal of clinical endocrinology and metabolism · 2005
Key publication · disorder Further studies on pseudo-hypoparathyroidism: report of four new cases.Acta endocrinologica · 1950
Manually curated
Association Review

In brief

The association between GATA3 (GATA Binding Protein 3) and Hypoparathyroidism is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 7
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
GATA3

The gene

1 source summary

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

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04
Hypoparathyroidism

The disorder

10 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

7 publications

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

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06
Provenance

References & sources

9 references

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

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