Genopathy
Gene-Disorder Association · Article
Gene
GNPTAB
N-Acetylglucosamine-1-Phosphate Transferase Subunits Alpha And Beta
Disorder
Mucolipidosis
First reported 1970
Supporting publications 36
Key publication · disorder [Type II mucolipidosis].La Presse medicale · 1970
Association Review

In brief

The association between GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase Subunits Alpha And Beta) and Mucolipidosis is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 49
Symptoms 0
Compounds 0
Trials 0
Publications 36
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
GNPTAB

The gene

1 source summary

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

Request access
04
Mucolipidosis

The disorder

6 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

49 clinical variants

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

Request access
06
Literature

Reading

36 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