Genopathy
Gene-Disorder Association · Article
Gene
LOC126860055
MED14-Independent Group 3 Enhancer GRCh37_chr7:65432190-65433389
Disorder
Mucopolysaccharidosis, Type Vii
First reported 1995
Supporting publications 6
Key publication · gene–disorder Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site.Human molecular genetics · 1995
Key publication · disorder Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis.The Journal of pediatrics · 1973
Manually curated
Association Review

In brief

The association between LOC126860055 (MED14-Independent Group 3 Enhancer GRCh37_chr7:65432190-65433389) and Mucopolysaccharidosis, Type Vii is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 38
Symptoms 106
Compounds 0
Trials 0
Publications 6
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
LOC126860055

The gene

1 source summary

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

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04
Mucopolysaccharidosis, Type Vii

The disorder

12 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

79 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

38 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

6 publications

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

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08
Provenance

References & sources

12 references

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

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