Genopathy
Gene-Disorder Association · Article
Gene
NR6A1
Nuclear Receptor Subfamily 6 Group A Member 1
Disorder
Oculovertebral Syndrome
First reported 1968
Key publication · disorder [Weyers' oculovertebral syndrome].Revue d'oto-neuro-ophtalmologie · 1968
Manually curated
Association Review

In brief

The association between NR6A1 (Nuclear Receptor Subfamily 6 Group A Member 1) and Oculovertebral Syndrome is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and causative variation.

Sources 2
Clinical variants 0
Symptoms 37
Compounds 0
Trials 0
Publications 0
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

2 sources

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

Request access
03
NR6A1

The gene

1 source summary

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

Request access
04
Oculovertebral Syndrome

The disorder

4 database identifiers

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

Request access
05
Phenotype

Clinical features

27 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
Mechanism overlap

Shared mechanisms

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

Request access
07
Provenance

References & sources

4 references

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

Request access