Genopathy
Gene-Disorder Association · Article
Gene
PHKA1
Phosphorylase Kinase Regulatory Subunit Alpha 1
Disorder
Phosphorylase Kinase Deficiency
First reported 1969
Key publication · disorder X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency.American journal of human genetics · 1969
Association Review

In brief

The association between PHKA1 (Phosphorylase Kinase Regulatory Subunit Alpha 1) and Phosphorylase Kinase Deficiency is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 8
Symptoms 0
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
PHKA1

The gene

1 source summary

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

Request access
04
Phosphorylase Kinase Deficiency

The disorder

2 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
ClinVar and variant evidence

Genetic basis

8 clinical variants

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

Request access
06
Provenance

References & sources

2 references

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

Request access