Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker CLINGEN Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity. 21484825

2011
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker CLINGEN CRIM-negative infantile Pompe disease: 42-month treatment outcome. 20882352

2010
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker CLINGEN Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. 19588081

2009
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker CLINGEN Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations. 17056254

2007
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker CLINGEN Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. 16860134

2006
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker CLINGEN New GAA mutations in Japanese patients with GSDII (Pompe disease). 14643388

2003
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker CLINGEN Correction of the enzymatic and functional deficits in a model of Pompe disease using adeno-associated virus vectors. 11991748

2002
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker CLINGEN Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders. 10973860

2000
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker 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
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker 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
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker CLINGEN Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II. 7717400

1995
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker 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
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker 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
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker CLINGEN Human lysosomal alpha-glucosidase. Characterization of the catalytic site. 1856189

1991
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker CLINGEN Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts. 3108320

1987
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C1968741
Disease: Glycogen Storage Disease IIIC
Glycogen Storage Disease IIIC 		0.300 Biomarker 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