GAA, glucosidase alpha, acid, 2548

N. diseases: 77; N. variants: 210
Disease: Glycogen Storage Disease IIIC ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker disease CLINGEN Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity. 21484825 2011
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker disease CLINGEN CRIM-negative infantile Pompe disease: 42-month treatment outcome. 20882352 2010
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker disease CLINGEN Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. 19588081 2009
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker disease CLINGEN Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations. 17056254 2007
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker disease CLINGEN Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. 16860134 2006
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker disease CLINGEN New GAA mutations in Japanese patients with GSDII (Pompe disease). 14643388 2003
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker disease CLINGEN Correction of the enzymatic and functional deficits in a model of Pompe disease using adeno-associated virus vectors. 11991748 2002
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker disease CLINGEN Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders. 10973860 2000
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker disease CLINGEN Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype. 9535769 1998
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker disease CLINGEN Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II. 9668092 1998
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker disease CLINGEN Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II. 7717400 1995
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker disease CLINGEN A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII). 7981676 1994
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker disease CLINGEN The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II. 8094613 1993
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker disease CLINGEN Human lysosomal alpha-glucosidase. Characterization of the catalytic site. 1856189 1991
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker disease CLINGEN Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts. 3108320 1987
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker disease CLINGEN The subcellular distribution of enzymes in type II glycogenosis and the occurrence of an oligo-alpha-1,4-glucan glucohydrolase in human tissues. 4286143 1965