Genopathy
Gene-Disorder Association · Article
Gene
PRKN
Parkin RBR E3 Ubiquitin Protein Ligase
Disorder
Early-Onset Parkinson'S Disease
First reported 2003
Supporting publications 22
Key publication · gene–disorder Parkin disease: a phenotypic study of a large case series.Brain : a journal of neurology · 2003
Key publication · disorder Benign early-onset Parkinson's disease: a syndrome distinct from classic postencephalitic parkinsonism.Neurology · 1970
Manually curated
Association Review

In brief

The association between PRKN (Parkin RBR E3 Ubiquitin Protein Ligase) and Early-Onset Parkinson'S Disease is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording pathogenic and likely-pathogenic variants and a causative germline mutation.

Sources 2
Clinical variants 6
Symptoms 34
Compounds 0
Trials 0
Publications 22
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
PRKN

The gene

1 source summary

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

Request access
04
Early-Onset Parkinson'S Disease

The disorder

6 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

6 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

22 publications

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

Request access
09
Provenance

References & sources

13 references

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

Request access