GAA, glucosidase alpha, acid, 2548

N. diseases: 77; N. variants: 210
Disease: Glycogen Storage Disease Type II, Infantile ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751173
Disease: Glycogen Storage Disease Type II, Infantile
Glycogen Storage Disease Type II, Infantile 		0.610 Therapeutic disease CTD_human [Application of enzyme assay and gene analysis in the prenatal diagnosis for a family with glycogen storage disease type II]. 21644219 2011
CUI: C0751173
Disease: Glycogen Storage Disease Type II, Infantile
Glycogen Storage Disease Type II, Infantile 		0.610 Therapeutic disease CTD_human Newborn screening for Pompe disease in Japan. 21963784 2011
CUI: C0751173
Disease: Glycogen Storage Disease Type II, Infantile
Glycogen Storage Disease Type II, Infantile 		0.610 Biomarker disease CTD_human [Application of enzyme assay and gene analysis in the prenatal diagnosis for a family with glycogen storage disease type II]. 21644219 2011
CUI: C0751173
Disease: Glycogen Storage Disease Type II, Infantile
Glycogen Storage Disease Type II, Infantile 		0.610 Biomarker disease CTD_human Newborn screening for Pompe disease in Japan. 21963784 2011
CUI: C0751173
Disease: Glycogen Storage Disease Type II, Infantile
Glycogen Storage Disease Type II, Infantile 		0.610 Biomarker disease CTD_human Adult glycogenosis type II (Pompe's disease): morphological abnormalities in muscle and skin biopsies compared with acid alpha-glucosidase activity. 18176891 2007
CUI: C0751173
Disease: Glycogen Storage Disease Type II, Infantile
Glycogen Storage Disease Type II, Infantile 		0.610 Therapeutic disease CTD_human Adult glycogenosis type II (Pompe's disease): morphological abnormalities in muscle and skin biopsies compared with acid alpha-glucosidase activity. 18176891 2007
CUI: C0751173
Disease: Glycogen Storage Disease Type II, Infantile
Glycogen Storage Disease Type II, Infantile 		0.610 Biomarker disease CTD_human Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease. 15466083 2004
CUI: C0751173
Disease: Glycogen Storage Disease Type II, Infantile
Glycogen Storage Disease Type II, Infantile 		0.610 Therapeutic disease CTD_human Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease. 15466083 2004
CUI: C0751173
Disease: Glycogen Storage Disease Type II, Infantile
Glycogen Storage Disease Type II, Infantile 		0.610 Biomarker disease BEFREE Infantile glycogen storage disease type II (GSD-II) is a fatal genetic muscle disorder caused by deficiency of acid alpha-glucosidase (GAA). 11286229 2001
CUI: C0751173
Disease: Glycogen Storage Disease Type II, Infantile
Glycogen Storage Disease Type II, Infantile 		0.610 Therapeutic disease CTD_human Cardiac remodeling and contractile function in acid alpha-glucosidase knockout mice. 11328962 2001
CUI: C0751173
Disease: Glycogen Storage Disease Type II, Infantile
Glycogen Storage Disease Type II, Infantile 		0.610 Biomarker disease CTD_human Cardiac remodeling and contractile function in acid alpha-glucosidase knockout mice. 11328962 2001
CUI: C0751173
Disease: Glycogen Storage Disease Type II, Infantile
Glycogen Storage Disease Type II, Infantile 		0.610 CausalMutation disease CLINVAR
CUI: C0751173
Disease: Glycogen Storage Disease Type II, Infantile
Glycogen Storage Disease Type II, Infantile 		0.610 GermlineCausalMutation disease ORPHANET