Genopathy
Gene-Disorder Association · Article
Gene
PPP2R5E
Protein Phosphatase 2 Regulatory Subunit B'Epsilon
Disorder
Retinal Disease
First reported 1950
Key publication · disorder [Mycosis fungoides with ocular manifestations; a case with dysoric retinal disease].Annali di ottalmologia e clinica oculistica · 1950
Manually curated
Association Review

In brief

The association between PPP2R5E (Protein Phosphatase 2 Regulatory Subunit B'Epsilon) and Retinal Disease is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 1
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
PPP2R5E

The gene

1 source summary

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

Request access
04
Retinal Disease

The disorder

9 database identifiers

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

Request access
05
Provenance

References & sources

3 references

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

Request access