Genopathy
Gene-Disorder Association · Article
Gene
LOC130059762
ATAC-STARR-Seq Lymphoblastoid Silent Region 7883
Disorder
Mucopolysaccharidosis, Type Iva
First reported 1997
Supporting publications 20
Key publication · gene–disorder Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.Human mutation · 1997
Key publication · disorder Ocular findings in Morquio-Ullrich's disease. With report of two cases.Archives of ophthalmology (Chicago, Ill. : 1960) · 1960
Manually curated
Association Review

In brief

The association between LOC130059762 (ATAC-STARR-Seq Lymphoblastoid Silent Region 7883) and Mucopolysaccharidosis, Type Iva is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 93
Symptoms 67
Compounds 0
Trials 0
Publications 20
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
LOC130059762

The gene

1 source summary

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

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04
Mucopolysaccharidosis, Type Iva

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

47 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

93 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

20 publications

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

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08
Provenance

References & sources

13 references

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

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