Genopathy
Gene-Disorder Association · Article
Gene
ENO3
Enolase 3
Disorder
Glycogen Storage Disease Xiii
First reported 2001
Supporting publications 2
Key publication · gene–disorder Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.Annals of neurology · 2001
Key publication · disorder Effect of human growth hormone treatment for 1 to 7 years on growth of 100 children, with growth hormone deficiency, low birthweight, inherited smallness, Turner's syndrome, and other complaints.Archives of disease in childhood · 1971
Manually curated
Association Review

In brief

The association between ENO3 (Enolase 3) and Glycogen Storage Disease Xiii is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 309
Symptoms 11
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

5 sources

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

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03
ENO3

The gene

1 source summary

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

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04
Glycogen Storage Disease Xiii

The disorder

10 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

5 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

309 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

2 publications

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

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09
Provenance

References & sources

11 references

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

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