Genopathy
Gene-Disorder Association · Article
Gene
LOC129992886
ATAC-STARR-Seq Lymphoblastoid Active Region 21757
Disorder
Mannosidosis, Beta A, Lysosomal
First reported 1998
Supporting publications 2
Key publication · gene–disorder Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis.Human molecular genetics · 1998
Key publication · disorder Chediak-Higashi syndrome: abnormal lysosomal enzyme levels in granulocytes of patients and family members.Pediatric research · 1980
Manually curated
Association Review

In brief

The association between LOC129992886 (ATAC-STARR-Seq Lymphoblastoid Active Region 21757) and Mannosidosis, Beta A, Lysosomal is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 55
Symptoms 30
Compounds 0
Trials 0
Publications 2
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
LOC129992886

The gene

1 source summary

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

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04
Mannosidosis, Beta A, Lysosomal

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

18 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

55 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

2 publications

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

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08
Provenance

References & sources

8 references

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

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