Genopathy
Gene-Disorder Association · Article
Gene
PRKN
Parkin RBR E3 Ubiquitin Protein Ligase
Association Review

In brief

The association between PRKN (Parkin RBR E3 Ubiquitin Protein Ligase) and Parkinson Disease 12 is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 2
Symptoms 0
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

1 source

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

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03
PRKN

The gene

1 source summary

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

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04
Parkinson Disease 12

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

2 clinical variants

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

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06
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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07
Provenance

References & sources

3 references

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

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