Genopathy
Gene-Disorder Association · Article
Gene
LOC129933334
ATAC-STARR-Seq Lymphoblastoid Active Region 15473
Disorder
Otof-Related Hearing Loss
First reported 1996
Supporting publications 3
Key publication · disorder A gene responsible for a sensorineural nonsyndromic recessive deafness maps to chromosome 2p22-23.Human molecular genetics · 1996
Manually curated
Association Review

In brief

The association between LOC129933334 (ATAC-STARR-Seq Lymphoblastoid Active Region 15473) and Otof-Related Hearing Loss is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 4
Symptoms 0
Compounds 0
Trials 0
Publications 3
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
LOC129933334

The gene

1 source summary

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

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04
Otof-Related Hearing Loss

The disorder

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

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05
ClinVar and variant evidence

Genetic basis

4 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Literature

Reading

3 publications

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

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07
Provenance

References & sources

5 references

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

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