Genopathy
Gene-Disorder Association · Article
Gene
NRL
Neural Retina Leucine Zipper
Disorder
Retinitis Pigmentosa 27
First reported 2000
Supporting publications 9
Key publication · gene–disorder NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies.European journal of human genetics : EJHG · 2000
Key publication · disorder Crystalline retinopathy.American journal of ophthalmology · 1978
Manually curated
Association Review

In brief

The association between NRL (Neural Retina Leucine Zipper) and Retinitis Pigmentosa 27 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 16
Symptoms 25
Compounds 0
Trials 0
Publications 9
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
NRL

The gene

1 source summary

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

Request access
04
Retinitis Pigmentosa 27

The disorder

11 database identifiers

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

Request access
05
Phenotype

Clinical features

13 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

16 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

9 publications

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

Request access
09
Provenance

References & sources

14 references

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

Request access