Genopathy
Gene-Disorder Association · Article
Gene
NR2E3
Nuclear Receptor Subfamily 2 Group E Member 3
Disorder
Enhanced S-Cone Syndrome
First reported 2000
Supporting publications 25
Key publication · gene–disorder Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.Nature genetics · 2000
Key publication · disorder Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity.American journal of ophthalmology · 1990
Manually curated
Association Review

In brief

The association between NR2E3 (Nuclear Receptor Subfamily 2 Group E Member 3) and Enhanced S-Cone Syndrome is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.

Sources 2
Clinical variants 228
Symptoms 0
Compounds 0
Trials 0
Publications 25
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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02
Provenance

Evidence and sources

2 sources

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

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03
NR2E3

The gene

1 source summary

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

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04
Enhanced S-Cone Syndrome

The disorder

5 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

228 clinical variants

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

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06
Literature

Reading

25 publications

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

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07
Provenance

References & sources

11 references

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

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