Genopathy
Gene-Disorder Association · Article
Gene
USH1G
USH1 Protein Network Component Sans
Disorder
Usher Syndrome
First reported 2004
Supporting publications 5
Key publication · gene–disorder Harp (harmonin-interacting, ankyrin repeat-containing protein), a novel protein that interacts with harmonin in epithelial tissues.Genes to cells : devoted to molecular & cellular mechanisms · 2004
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 USH1G (USH1 Protein Network Component Sans) and Usher Syndrome is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.

Sources 2
Clinical variants 12
Symptoms 45
Compounds 0
Trials 0
Publications 5
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
USH1G

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

12 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

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

Request access
08
Literature

Reading

5 publications

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

Request access
09
Provenance

References & sources

12 references

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

Request access