Genopathy
Gene-Disorder Association · Article
Gene
PHKA1-AS1
PHKA1 Antisense RNA 1
Disorder
Glycogen Storage Disease Ixd
First reported 1998
Supporting publications 3
Key publication · gene–disorder A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy.Biochemical and biophysical research communications · 1998
Key publication · disorder Skeletal muscle phosphorylase kinase deficiency: detection of a protein lacking any activity in ICR-IAn mice.FEBS letters · 1973
Manually curated
Association Review

In brief

The association between PHKA1-AS1 (PHKA1 Antisense RNA 1) and Glycogen Storage Disease Ixd is well established and manually curated, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 24
Symptoms 37
Compounds 0
Trials 0
Publications 3
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
PHKA1-AS1

The gene

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

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04
Glycogen Storage Disease Ixd

The disorder

11 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

29 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

24 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

3 publications

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

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08
Provenance

References & sources

9 references

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

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