Genopathy
Gene-Disorder Association · Article
Gene
LOC129936434
ATAC-STARR-Seq Lymphoblastoid Silent Region 14182
Disorder
Gm1-Gangliosidosis, Type I
First reported 1994
Supporting publications 3
Key publication · gene–disorder Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.American journal of human genetics · 1994
Key publication · disorder Gargoylism (Hunter-Hurler disease, dysostosis multiplex, lipochondrodystrophy); prenatal and neonatal bone lesions and their early postnatal evolution.Bulletin of the Hospital for Joint Diseases · 1951
Manually curated
Association Review

In brief

The association between LOC129936434 (ATAC-STARR-Seq Lymphoblastoid Silent Region 14182) and Gm1-Gangliosidosis, Type I is well established and manually curated, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 10
Symptoms 98
Compounds 0
Trials 0
Publications 3
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

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

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03
LOC129936434

The gene

1 source summary

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

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04
Gm1-Gangliosidosis, Type I

The disorder

14 database identifiers

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

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05
Phenotype

Clinical features

77 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

10 clinical variants

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

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07
Literature

Reading

3 publications

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

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08
Provenance

References & sources

9 references

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

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