Genopathy
Gene-Disorder Association · Article
Gene
GYS1
Glycogen Synthase 1
Disorder
Glycogen Storage Disease 0, Muscle
First reported 2007
Supporting publications 6
Key publication · gene–disorder Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0.The New England journal of medicine · 2007
Key publication · disorder Cerebral energetics and the glycogen shunt: neurochemical basis of functional imaging.Proceedings of the National Academy of Sciences of the United States of America · 2001
Manually curated
Association Review

In brief

The association between GYS1 (Glycogen Synthase 1) and Glycogen Storage Disease 0, Muscle is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic and likely-pathogenic variants.

Sources 2
Clinical variants 577
Symptoms 41
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.

Request access
02
Provenance

Evidence and sources

2 sources

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

Request access
03
GYS1

The gene

1 source summary

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

Request access
04
Glycogen Storage Disease 0, Muscle

The disorder

5 database identifiers

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

Request access
05
Phenotype

Clinical features

31 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

577 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

6 publications

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

Request access
09
Provenance

References & sources

10 references

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

Request access