Genopathy
Gene-Disorder Association · Article
Gene
ALG13
ALG13 UDP-N-Acetylglucosaminyltransferase Subunit
Disorder
Rare Genetic Intellectual Disability
First reported 2011
Key publication · disorder "You have to sit and explain it all, and explain yourself." Mothers' experiences of support services for their offspring with a rare genetic intellectual disability syndrome.Journal of genetic counseling · 2011
Association Review

In brief

The association between ALG13 (ALG13 UDP-N-Acetylglucosaminyltransferase Subunit) and Rare Genetic Intellectual Disability is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 1
Symptoms 0
Compounds 0
Trials 0
Publications 0
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
ALG13

The gene

1 source summary

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

Request access
04
Rare Genetic Intellectual Disability

The disorder

3 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

1 clinical variant

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

Request access
06
Provenance

References & sources

2 references

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

Request access