Genopathy
Gene-Disorder Association · Article
Gene
PABPN1
Poly(A) Binding Protein Nuclear 1
Disorder
Muscular Dystrophy
First reported 1997
Supporting publications 1
Key publication · gene–disorder Using the full power of linkage analysis in 11 French Canadian families to fine map the oculopharyngeal muscular dystrophy gene.Neuromuscular disorders : NMD · 1997
Key publication · disorder Myocardial lesions in progressive muscular dystrophy.A.M.A. archives of pathology · 1950
Manually curated
Association Review

In brief

The association between PABPN1 (Poly(A) Binding Protein Nuclear 1) and Muscular Dystrophy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 5
Compounds 0
Trials 0
Publications 1
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
PABPN1

The gene

1 source summary

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

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04
Muscular Dystrophy

The disorder

9 database identifiers

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

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05
Literature

Reading

1 publication

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

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06
Provenance

References & sources

4 references

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

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