Genopathy
Gene-Disorder Association · Article
Gene
POMGNT2
Protein O-Linked Mannose N-Acetylglucosaminyltransferase 2 (Beta 1,4-)
Disorder
Limb-Girdle Muscular Dystrophy
First reported 2002
Supporting publications 2
Key publication · gene–disorder The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I.Neuromuscular disorders : NMD · 2002
Key publication · disorder Muscular dystrophy in Northern Ireland. III. Linkage data with particular reference to autosomal limb girdle muscular dystrophy.Annals of human genetics · 1955
Manually curated
Association Review

In brief

The association between POMGNT2 (Protein O-Linked Mannose N-Acetylglucosaminyltransferase 2 (Beta 1,4-)) and Limb-Girdle Muscular Dystrophy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 2
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
POMGNT2

The gene

1 source summary

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

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04
Limb-Girdle Muscular Dystrophy

The disorder

8 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

2 publications

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

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06
Provenance

References & sources

5 references

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

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