Genopathy
Gene-Disorder Association · Article
Gene
NKX2-1
NK2 Homeobox 1
Disorder
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
First reported 2008
Supporting publications 24
Key publication · gene–disorder Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation.Movement disorders : official journal of the Movement Disorder Society · 2008
Key publication · disorder Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure.The New England journal of medicine · 1998
Manually curated
Association Review

In brief

The association between NKX2-1 (NK2 Homeobox 1) and Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 105
Symptoms 99
Compounds 0
Trials 0
Publications 24
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

5 sources

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

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03
NKX2-1

The gene

1 source summary

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

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04
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction

The disorder

13 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

81 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

105 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

24 publications

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

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09
Provenance

References & sources

17 references

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

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