GYG1, glycogenin 1, 2992

N. diseases: 52; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150754
Disease: GLYCOGEN STORAGE DISEASE XV
GLYCOGEN STORAGE DISEASE XV 		0.710 Biomarker disease BEFREE Glycogenin is dispensable for glycogen synthesis in human muscle and glycogenin deficiency causes polyglucosan storage. 31628455 2020
CUI: C4015452
Disease: POLYGLUCOSAN BODY MYOPATHY 2
POLYGLUCOSAN BODY MYOPATHY 2 		0.710 CausalMutation disease CLINVAR Polyglucosan myopathy and functional characterization of a novel GYG1 mutation. 29143313 2018
CUI: C4015452
Disease: POLYGLUCOSAN BODY MYOPATHY 2
POLYGLUCOSAN BODY MYOPATHY 2 		0.710 Biomarker disease BEFREE Our case is consistent with the core phenotype of GYG1-related PGBM2 apart from an early onset of weakness without cardiac symptoms. 29422440 2018
CUI: C3150754
Disease: GLYCOGEN STORAGE DISEASE XV
GLYCOGEN STORAGE DISEASE XV 		0.710 GeneticVariation disease CLINVAR Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature. 27718144 2017
CUI: C4015452
Disease: POLYGLUCOSAN BODY MYOPATHY 2
POLYGLUCOSAN BODY MYOPATHY 2 		0.710 CausalMutation disease CLINVAR Glycogen Synthesis in Glycogenin 1-Deficient Patients: A Role for Glycogenin 2 in Muscle. 28453664 2017
CUI: C4015452
Disease: POLYGLUCOSAN BODY MYOPATHY 2
POLYGLUCOSAN BODY MYOPATHY 2 		0.710 GeneticVariation disease CLINVAR Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature. 27718144 2017
CUI: C4015452
Disease: POLYGLUCOSAN BODY MYOPATHY 2
POLYGLUCOSAN BODY MYOPATHY 2 		0.710 CausalMutation disease CLINVAR Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency. 29264399 2017
CUI: C3150754
Disease: GLYCOGEN STORAGE DISEASE XV
GLYCOGEN STORAGE DISEASE XV 		0.710 Biomarker disease GENOMICS_ENGLAND Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1. 26652229 2016
CUI: C4015452
Disease: POLYGLUCOSAN BODY MYOPATHY 2
POLYGLUCOSAN BODY MYOPATHY 2 		0.710 Biomarker disease GENOMICS_ENGLAND Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1. 26652229 2016
CUI: C3150754
Disease: GLYCOGEN STORAGE DISEASE XV
GLYCOGEN STORAGE DISEASE XV 		0.710 Biomarker disease GENOMICS_ENGLAND Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation. 26255073 2015
CUI: C4015452
Disease: POLYGLUCOSAN BODY MYOPATHY 2
POLYGLUCOSAN BODY MYOPATHY 2 		0.710 Biomarker disease GENOMICS_ENGLAND Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation. 26255073 2015
CUI: C3150754
Disease: GLYCOGEN STORAGE DISEASE XV
GLYCOGEN STORAGE DISEASE XV 		0.710 GeneticVariation disease CLINVAR A new muscle glycogen storage disease associated with glycogenin-1 deficiency. 25272951 2014
CUI: C4015452
Disease: POLYGLUCOSAN BODY MYOPATHY 2
POLYGLUCOSAN BODY MYOPATHY 2 		0.710 GeneticVariation disease CLINVAR A new muscle glycogen storage disease associated with glycogenin-1 deficiency. 25272951 2014
CUI: C4015452
Disease: POLYGLUCOSAN BODY MYOPATHY 2
POLYGLUCOSAN BODY MYOPATHY 2 		0.710 GeneticVariation disease UNIPROT A new muscle glycogen storage disease associated with glycogenin-1 deficiency. 25272951 2014
CUI: C4015452
Disease: POLYGLUCOSAN BODY MYOPATHY 2
POLYGLUCOSAN BODY MYOPATHY 2 		0.710 GermlineCausalMutation disease ORPHANET A new muscle glycogen storage disease associated with glycogenin-1 deficiency. 25272951 2014
CUI: C3150754
Disease: GLYCOGEN STORAGE DISEASE XV
GLYCOGEN STORAGE DISEASE XV 		0.710 GeneticVariation disease UNIPROT Conformational plasticity of glycogenin and its maltosaccharide substrate during glycogen biogenesis. 22160680 2011
CUI: C3150754
Disease: GLYCOGEN STORAGE DISEASE XV
GLYCOGEN STORAGE DISEASE XV 		0.710 GeneticVariation disease UNIPROT Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. 20357282 2010
CUI: C3150754
Disease: GLYCOGEN STORAGE DISEASE XV
GLYCOGEN STORAGE DISEASE XV 		0.710 GermlineCausalMutation disease ORPHANET Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. 20357282 2010
CUI: C3150754
Disease: GLYCOGEN STORAGE DISEASE XV
GLYCOGEN STORAGE DISEASE XV 		0.710 Biomarker disease GENOMICS_ENGLAND Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. 20357282 2010
CUI: C4015452
Disease: POLYGLUCOSAN BODY MYOPATHY 2
POLYGLUCOSAN BODY MYOPATHY 2 		0.710 CausalMutation disease CLINVAR Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. 20357282 2010
CUI: C3150754
Disease: GLYCOGEN STORAGE DISEASE XV
GLYCOGEN STORAGE DISEASE XV 		0.710 CausalMutation disease CLINVAR
CUI: C3150754
Disease: GLYCOGEN STORAGE DISEASE XV
GLYCOGEN STORAGE DISEASE XV 		0.710 Biomarker disease CTD_human
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.550 GeneticVariation group BEFREE Glycogen storage disease (GSD) type XV is a rare disease caused by mutations in the GYG1 gene that codes for the core molecule of muscle glycogen, glycogenin 1. 28453664 2017
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.550 Biomarker group BEFREE Glycogenin-1 deficiency is known as a rare cause of skeletal muscle glycogen storage disease, usually without cardiomyopathy. 27718144 2017
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.550 GeneticVariation group BEFREE Pompe disease or glycogen storage disease type II is a glycogen storage disorder associated with malfunction of the acid α-glucosidase enzyme (GAA; EC.3.2.1.3) leading to intracellular aggregations of glycogenin muscles. 24976573 2014