Genopathy
Gene-Disorder Association · Article
Gene
EYS
EGF-Like Photoreceptor Maintenance Factor
Disorder
Retinitis Pigmentosa 25
First reported 2008
Supporting publications 58
Key publication · gene–disorder EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.Nature genetics · 2008
Key publication · disorder Refractoriness of neuromuscular transmission: determination by computer subtraction of neurally evoked compound electromyograms.Canadian journal of anaesthesia = Journal canadien d'anesthesie · 1993
Manually curated
Association Review

In brief

The association between EYS (EGF-Like Photoreceptor Maintenance Factor) and Retinitis Pigmentosa 25 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 981
Symptoms 17
Compounds 0
Trials 0
Publications 58
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

4 sources

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

Request access
03
EYS

The gene

1 source summary

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

Request access
04
Retinitis Pigmentosa 25

The disorder

9 database identifiers

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

Request access
05
Phenotype

Clinical features

10 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

981 clinical variants

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

Request access
07
Population genetics

GWAS signals

1 GWAS phenotype

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

Request access
08
Mechanism overlap

Shared mechanisms

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

Request access
09
Literature

Reading

58 publications

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

Request access
10
Provenance

References & sources

15 references

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

Request access