Genopathy
Gene-Disorder Association · Article
Gene
UCHL1
Ubiquitin C-Terminal Hydrolase L1
Disorder
Parkinson'S Disease
First reported 1999
Supporting publications 42
Key publication · gene–disorder Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease.Neuroreport · 1999
Key publication · disorder Section of U fibers of motor cortex in cases of paralysis agitans (Parkinson's disease); report of 9 cases.Archives of neurology and psychiatry · 1950
Manually curated
Association Review

In brief

The association between UCHL1 (Ubiquitin C-Terminal Hydrolase L1) and Parkinson'S Disease is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 13
Compounds 0
Trials 0
Publications 42
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
UCHL1

The gene

1 source summary

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

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04
Parkinson'S Disease

The disorder

7 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Mechanism overlap

Shared mechanisms

1 shared pathway

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

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06
Literature

Reading

42 publications

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

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07
Provenance

References & sources

15 references

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

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