Genopathy
Gene-Disorder Association · Article
Gene
LOXHD1
Lipoxygenase Homology PLAT Domains 1
Disorder
Nonsyndromic Hearing Loss
First reported 2012
Supporting publications 11
Key publication · gene–disorder Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.PloS one · 2012
Key publication · disorder Symposium on sensorineural hearing loss in children: early detection and intervention. Genetic factors in deafness of early life.Otolaryngologic clinics of North America · 1975
Manually curated
Association Review

In brief

The association between LOXHD1 (Lipoxygenase Homology PLAT Domains 1) and Nonsyndromic Hearing Loss is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 11
Symptoms 0
Compounds 0
Trials 0
Publications 11
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
LOXHD1

The gene

1 source summary

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

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04
Nonsyndromic Hearing Loss

The disorder

1 database identifier

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

11 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

11 publications

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

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07
Provenance

References & sources

11 references

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

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