Genopathy
Gene-Disorder Association · Article
Gene
POMT1
Protein O-Mannosyltransferase 1
Disorder
Muscular Dystrophy
First reported 1999
Supporting publications 8
Key publication · gene–disorder Identification of a human homolog of the Drosophila rotated abdomen gene (POMT1) encoding a putative protein O-mannosyl-transferase, and assignment to human chromosome 9q34.1.Genomics · 1999
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 POMT1 (Protein O-Mannosyltransferase 1) and Muscular Dystrophy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 5
Compounds 0
Trials 0
Publications 8
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
POMT1

The gene

1 source summary

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

Request access
04
Muscular Dystrophy

The disorder

9 database identifiers

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

Request access
05
Literature

Reading

8 publications

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

Request access
06
Provenance

References & sources

11 references

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

Request access