Genopathy
Gene-Disorder Association · Article
Gene
USH2A-AS2
USH2A Antisense RNA 2
Disorder
Usher Syndrome
First reported 2006
Supporting publications 40
Key publication · gene–disorder Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.Journal of medical genetics · 2006
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 USH2A-AS2 (USH2A Antisense RNA 2) and Usher Syndrome is well established and manually curated, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 15
Symptoms 45
Compounds 0
Trials 0
Publications 40
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
USH2A-AS2

The gene

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

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04
Usher Syndrome

The disorder

11 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

37 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

15 clinical variants

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

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07
Literature

Reading

40 publications

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

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08
Provenance

References & sources

13 references

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

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