Genopathy
Gene-Disorder Association · Article
Gene
CDH23-AS1
CDH23 Antisense RNA 1
Disorder
Usher Syndrome, Type I
First reported 1959
Key publication · disorder Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: A clinical and genetico-statistical study.Acta psychiatrica Scandinavica. Supplementum · 1959
Association Review

In brief

The association between CDH23-AS1 (CDH23 Antisense RNA 1) and Usher Syndrome, Type I is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 28
Symptoms 28
Compounds 0
Trials 0
Publications 0
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

1 source

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

Request access
03
CDH23-AS1

The gene

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

Request access
04
Usher Syndrome, Type I

The disorder

20 database identifiers

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

Request access
05
Phenotype

Clinical features

22 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

28 clinical variants

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

Request access
07
Provenance

References & sources

6 references

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

Request access