Genopathy
Gene-Disorder Association · Article
Gene
LOC130061900
ATAC-STARR-Seq Lymphoblastoid Silent Region 9102
Disorder
Mucopolysaccharidosis, Type Iiia
First reported 1997
Supporting publications 10
Key publication · gene–disorder Novel mutations in Sanfilippo A syndrome: implications for enzyme function.Human molecular genetics · 1997
Key publication · disorder THE RADIOGRAPHIC MANIFESTATIONS OF THE HS-MUCOPOLYSACCHARIDOSIS OF SANFILIPPO, WITH DISCUSSION OF THIS CONDITION IN RELATION TO THE OTHER MUCOPOLYSACCHARIDOSES AND A CLASSIFICATION OF THESE FUNDAMENTALLY SIMILAR ENTITIES.Annales de radiologie · 1964
Manually curated
Association Review

In brief

The association between LOC130061900 (ATAC-STARR-Seq Lymphoblastoid Silent Region 9102) and Mucopolysaccharidosis, Type Iiia is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 20
Symptoms 41
Compounds 0
Trials 0
Publications 10
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
LOC130061900

The gene

1 source summary

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

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04
Mucopolysaccharidosis, Type Iiia

The disorder

13 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

26 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

20 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

10 publications

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

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08
Provenance

References & sources

14 references

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

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