Genopathy
Gene-Disorder Association · Article
Gene
LOC130001683
ATAC-STARR-Seq Lymphoblastoid Active Region 28314
Disorder
Galactosemia I
First reported 1991
Supporting publications 29
Key publication · gene–disorder Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.Proceedings of the National Academy of Sciences of the United States of America · 1991
Key publication · disorder A specific enzymatic assay for the diagnosis of congenital galactosemia. I. The consumption test.The Journal of laboratory and clinical medicine · 1957
Manually curated
Association Review

In brief

The association between LOC130001683 (ATAC-STARR-Seq Lymphoblastoid Active Region 28314) and Galactosemia I is well established and manually curated, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 72
Symptoms 89
Compounds 0
Trials 0
Publications 29
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
LOC130001683

The gene

1 source summary

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

Request access
04
Galactosemia I

The disorder

13 database identifiers

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

Request access
05
Phenotype

Clinical features

75 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

72 clinical variants

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

Request access
07
Literature

Reading

29 publications

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

Request access
08
Provenance

References & sources

15 references

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

Request access