Genopathy
Gene-Disorder Association · Article
Gene
B3GALNT2
Beta-1,3-N-Acetylgalactosaminyltransferase 2
Disorder
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11
First reported 1998
Supporting publications 16
Key publication · disorder Statistical features of human exons and their flanking regions.Human molecular genetics · 1998
Manually curated
Association Review

In brief

The association between B3GALNT2 (Beta-1,3-N-Acetylgalactosaminyltransferase 2) and Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 423
Symptoms 0
Compounds 0
Trials 0
Publications 16
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
B3GALNT2

The gene

1 source summary

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

Request access
04
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

The disorder

2 database identifiers

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

Request access
05
ClinVar and variant evidence

Genetic basis

423 clinical variants

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

Request access
06
Literature

Reading

16 publications

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

Request access
07
Provenance

References & sources

10 references

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

Request access