Genopathy
Gene-Disorder Association · Article
Gene
NR2E3
Nuclear Receptor Subfamily 2 Group E Member 3
Disorder
Retinitis Pigmentosa
First reported 2000
Supporting publications 38
Key publication · gene–disorder The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.Human genetics · 2000
Key publication · disorder Malformation of the erythrocytes in a case of atypical retinitis pigmentosa.Blood · 1950
Manually curated
Association Review

In brief

The association between NR2E3 (Nuclear Receptor Subfamily 2 Group E Member 3) 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 67
Symptoms 40
Compounds 0
Trials 0
Publications 38
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

3 sources

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

Request access
03
NR2E3

The gene

1 source summary

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

Request access
04
Retinitis Pigmentosa

The disorder

13 database identifiers

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

Request access
05
Phenotype

Clinical features

34 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

67 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

38 publications

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

Request access
09
Provenance

References & sources

15 references

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

Request access