Association Review
In brief The association between EYS (EGF-Like Photoreceptor Maintenance Factor) and Retinitis Pigmentosa is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.
Sources
3
Clinical variants
399
Symptoms
40
Compounds
0
Trials
0
Publications
84
Contents
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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Provenance
Evidence and sources 3 sources
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
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A gene summary alongside the source descriptions it was distilled from.
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Retinitis Pigmentosa
The disorder 13 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
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Phenotype
Clinical features 34 clinical features
The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.
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ClinVar and variant evidence
Genetic basis 399 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
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Population genetics
GWAS signals 1 GWAS phenotype
Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.
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Mechanism overlap
Shared mechanisms Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
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Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
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Provenance
References & sources 16 references
Every source and publication cited across this dossier, as one numbered reference list.
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