Genopathy
Gene-Disorder Association · Article
Gene
GNAL
G Protein Subunit Alpha L
Disorder
Dystonia
First reported 2013
Supporting publications 9
Key publication · gene–disorder Mutations in GNAL cause primary torsion dystonia.Nature genetics · 2013
Key publication · disorder Dystonia musculorum deformans, with report of a case in a child.The Medical journal of Australia · 1950
Manually curated
Association Review

In brief

The association between GNAL (G Protein Subunit Alpha L) and Dystonia is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 117
Symptoms 19
Compounds 0
Trials 0
Publications 9
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

2 sources

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

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03
GNAL

The gene

2 source summaries

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

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04
Dystonia

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
ClinVar and variant evidence

Genetic basis

117 clinical variants

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

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06
Literature

Reading

9 publications

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

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07
Provenance

References & sources

13 references

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

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