Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation UNIPROT They had low levels of GAA activity and developed late onset Pompe disease. 25681614

2015
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation UNIPROT In a cross-sectional single-centre study we clinically assessed 3 patients with classic infantile Pompe disease and 39 patients with non-classic presentations, measured their acid alpha-glucosidase activities and analysed their GAA genes. 22676651

2012
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation UNIPROT Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants. 22644586

2012
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation UNIPROT Late form of Pompe disease with glycogen storage in peripheral nerves axons. 21109266

2011
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation UNIPROT Screening of late-onset Pompe disease in a sample of Mexican patients with myopathies of unknown etiology: identification of a novel mutation in the acid alpha-glucosidase gene. 20350966

2010
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation UNIPROT Therefore, newborn screening for Pompe disease could be successfully conducted by including genotyping and lymphocyte GAA assay, even in a population with mutation heterozygosity and pseudodeficiency. 20080426

2010
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation UNIPROT Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an inherited autosomal recessive deficiency of acid alpha-glucosidase (GAA), with predominant manifestations of skeletal muscle weakness. 19588081

2009
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation UNIPROT The Pompe disease mutation database aims to list all GAA sequence variations and describe their effect. 18425781

2008
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation UNIPROT Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. 18429042

2008
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation UNIPROT Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. 17643989

2007
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation UNIPROT Two clinical forms of glycogen-storage disease type II in two generations of the same family. 16433701

2006
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation UNIPROT We report here the complete molecular analysis of the GAA gene performed on 40 Italian patients with late onset GSDII. 16917947

2006
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation UNIPROT A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease. 16782080

2006
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation UNIPROT Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype. 15668445

2005
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation UNIPROT Glycogenosis type II (GSDII) is an autosomal recessive disorder due to the deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). 14972326

2004
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation UNIPROT Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. 14695532

2004
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation UNIPROT A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn. 15145338

2004
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation UNIPROT New GAA mutations in Japanese patients with GSDII (Pompe disease). 14643388

2003
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation UNIPROT Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II. 12923862

2003
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation UNIPROT Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene. 12601120

2003
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation UNIPROT Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease). 11738358

2002
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation UNIPROT Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. 11071489

2000
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation UNIPROT Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online. 10189220

1999
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation UNIPROT Pompe disease is caused by mutations in the acid alpha-glucosidase (GAA) gene. 10338092

1999
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation UNIPROT Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients. 10737124

1998