Genopathy
Gene-Disorder Association · Article
Gene
GNE
Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase
Disorder
Neuromuscular Disease
First reported 2005
Supporting publications 5
Key publication · gene–disorder No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.Biochemical and biophysical research communications · 2005
Key publication · disorder Effects of cortisone in certain neuromuscular disorders.Journal of the American Medical Association · 1950
Manually curated
Association Review

In brief

The association between GNE (Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase) and Neuromuscular Disease is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 15
Compounds 0
Trials 0
Publications 5
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
GNE

The gene

1 source summary

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

Request access
04
Neuromuscular Disease

The disorder

8 database identifiers

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

Request access
05
Literature

Reading

5 publications

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

Request access
06
Provenance

References & sources

8 references

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

Request access