Genopathy
Gene-Disorder Association · Article
Gene
FOXI1
Forkhead Box I1
Disorder
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
First reported 2007
Key publication · gene–disorder Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).American journal of human genetics · 2007
Key publication · disorder The large vestibular aqueduct syndrome.The Laryngoscope · 1978
Manually curated
Association Review

In brief

The association between FOXI1 (Forkhead Box I1) and Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording a known molecular basis.

Sources 2
Clinical variants 107
Symptoms 7
Compounds 0
Trials 0
Publications 0
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
FOXI1

The gene

1 source summary

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

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04
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct

The disorder

9 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

4 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

107 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
Provenance

References & sources

5 references

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

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