Genopathy
Gene-Disorder Association · Article
Gene
PINK1-AS
PINK1 Antisense RNA
Disorder
Parkinson Disease 6, Autosomal Recessive Early-Onset
First reported 2004
Supporting publications 44
Key publication · gene–disorder Hereditary early-onset Parkinson's disease caused by mutations in PINK1.Science (New York, N.Y.) · 2004
Key publication · disorder [Open lecture class on Parkinson's disease. 6. Public health nurses' activities for Parkinson's disease patients].[Kango] Japanese journal of nursing · 1976
Manually curated
Association Review

In brief

The association between PINK1-AS (PINK1 Antisense RNA) and Parkinson Disease 6, Autosomal Recessive Early-Onset is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 200
Symptoms 22
Compounds 0
Trials 0
Publications 44
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
PINK1-AS

The gene

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

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04
Parkinson Disease 6, Autosomal Recessive Early-Onset

The disorder

10 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

11 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

200 clinical variants

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

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07
Literature

Reading

44 publications

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

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08
Provenance

References & sources

12 references

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

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