GYG1, glycogenin 1, 2992

N. diseases: 52; N. variants: 11
Disease: Muscle Weakness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.410 GeneticVariation phenotype BEFREE The presence of α-amylase resistant PAS-positive material in skeletal muscle biopsy of patients with slowly progressive limb girdle muscle weakness should prompt the search for GYG1 mutations. 29422440 2018
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.410 Biomarker phenotype CTD_human Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. 20357282 2010
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.410 Biomarker phenotype HPO