Genopathy
Gene-Disorder Association · Article
Gene
GIPC3
GIPC PDZ Domain Containing Family Member 3
Disorder
Deafness, Autosomal Recessive 15
First reported 2011
Supporting publications 4
Key publication · gene–disorder Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.Nature communications · 2011
Key publication · disorder Nonsyndromic hearing loss: an analysis of audiograms.The Annals of otology, rhinology, and laryngology · 1994
Manually curated
Association Review

In brief

The association between GIPC3 (GIPC PDZ Domain Containing Family Member 3) and Deafness, Autosomal Recessive 15 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 31
Symptoms 5
Compounds 0
Trials 0
Publications 4
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

4 sources

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

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03
GIPC3

The gene

1 source summary

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

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04
Deafness, Autosomal Recessive 15

The disorder

8 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

31 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

4 publications

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

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09
Provenance

References & sources

10 references

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

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