Genopathy
Gene-Disorder Association · Article
Gene
FOXE1
Forkhead Box E1
Disorder
Congenital Hypothyroidism
First reported 1999
Supporting publications 8
Key publication · gene–disorder Cloning, chromosomal localization and identification of polymorphisms in the human thyroid transcription factor 2 gene (TITF2).Biochimie · 1999
Key publication · disorder Glycogen disease resembling mongolism, cretinism, and amytonia congenita; case report and review of literature.The Journal of pediatrics · 1950
Manually curated
Association Review

In brief

The association between FOXE1 (Forkhead Box E1) and Congenital Hypothyroidism is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 8
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
FOXE1

The gene

1 source summary

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

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04
Congenital Hypothyroidism

The disorder

17 database identifiers

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

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05
Population genetics

GWAS signals

1 GWAS phenotype

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

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06
Literature

Reading

8 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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