Genopathy
Gene-Disorder Association · Article
Gene
NR3C2
Nuclear Receptor Subfamily 3 Group C Member 2
Disorder
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
First reported 1995
Key publication · disorder The genetic basis of hypertension.Current opinion in nephrology and hypertension · 1995
Manually curated
Association Review

In brief

The association between NR3C2 (Nuclear Receptor Subfamily 3 Group C Member 2) and Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 3
Clinical variants 94
Symptoms 8
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.

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02
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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03
NR3C2

The gene

2 source summaries

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

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04
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy

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
Phenotype

Clinical features

3 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

94 clinical variants

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

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07
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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08
Mechanism overlap

Shared mechanisms

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

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09
Provenance

References & sources

8 references

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

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