Genopathy
Gene-Disorder Association · Article
Gene
USH1C
USH1 Protein Network Component Harmonin
Disorder
Usher Syndrome
First reported 2000
Supporting publications 19
Key publication · gene–disorder A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.Nature genetics · 2000
Key publication · disorder [Comparative study of the action of aureomycin in Duhring-Brocq disease and in the Senear-Usher syndrome].Lyon medical · 1950
Manually curated
Association Review

In brief

The association between USH1C (USH1 Protein Network Component Harmonin) and Usher Syndrome is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic and likely-pathogenic variants.

Sources 2
Clinical variants 9
Symptoms 45
Compounds 0
Trials 0
Publications 19
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

2 sources

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

Request access
03
USH1C

The gene

1 source summary

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

Request access
04
Usher Syndrome

The disorder

11 database identifiers

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

Request access
05
Phenotype

Clinical features

37 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

9 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

1 shared pathway

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

19 publications

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

Request access
09
Provenance

References & sources

17 references

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

Request access