Genopathy
Gene-Disorder Association · Article
Gene
GNPTG
N-Acetylglucosamine-1-Phosphate Transferase Subunit Gamma
Disorder
Fundus Dystrophy
First reported 1950
Supporting publications 8
Key publication · disorder Further cases of a fundus dystrophy with unusual features.The British journal of ophthalmology · 1950
Manually curated
Association Review

In brief

The association between GNPTG (N-Acetylglucosamine-1-Phosphate Transferase Subunit Gamma) and Fundus Dystrophy is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 5
Symptoms 0
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

2 sources

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

Request access
03
GNPTG

The gene

1 source summary

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

Request access
04
Fundus Dystrophy

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

5 clinical variants

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

Request access
06
Literature

Reading

8 publications

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

Request access
07
Provenance

References & sources

11 references

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

Request access