GYG1, glycogenin 1, 2992

N. diseases: 52; N. variants: 11
Disease: GLYCOGEN STORAGE DISEASE XV ×
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: 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: 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: 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: 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: 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: 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