Genopathy
Gene-Disorder Association · Article
Gene
PHKG2
Phosphorylase Kinase Catalytic Subunit Gamma 2
Disorder
Glycogen Storage Disease Ixd
First reported 1973
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 PHKG2 (Phosphorylase Kinase Catalytic Subunit Gamma 2) and Glycogen Storage Disease Ixd is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 37
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
PHKG2

The gene

1 source summary

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

Request access
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).

Request access
05
Phenotype

Clinical features

29 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
Mechanism overlap

Shared mechanisms

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

Request access
07
Provenance

References & sources

7 references

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

Request access