Genopathy
Gene-Disorder Association · Article
Gene
LOC106627981
GBA Recombination Region
Disorder
Parkinson Disease, Late-Onset
First reported 2007
Supporting publications 43
Key publication · gene–disorder Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients.Archives of neurology · 2007
Key publication · disorder The distribution of coccidioidomycosis in Southern California.California medicine · 1950
Manually curated
Association Review

In brief

The association between LOC106627981 (GBA Recombination Region) and Parkinson Disease, Late-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 59
Symptoms 75
Compounds 0
Trials 0
Publications 43
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
LOC106627981

The gene

1 source summary

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

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04
Parkinson Disease, Late-Onset

The disorder

12 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

47 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

59 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
Literature

Reading

43 publications

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

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09
Provenance

References & sources

16 references

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

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