USH1E and Usher Syndrome, Type I: Association Evidence

Gene-Disorder Association · Article

Gene

USH1E

Usher Syndrome 1E (Autosomal Recessive, Severe)

Disorder

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

Manually curated

Association Review

In brief

The association between USH1E (Usher Syndrome 1E (Autosomal Recessive, Severe)) and Usher Syndrome, Type I is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a causative germline mutation.

Sources 2

Clinical variants 0

Symptoms 28

Compounds 0

Trials 0

Publications 0

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

Provenance

Evidence and sources

2 sources

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

Request access

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

Phenotype

Clinical features

22 clinical features

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

Request access

Provenance

References & sources

5 references

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

Request access