Source: INFERRED

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 CausalMutation CLINVAR "Frequency of mutations for glycogen storage disease type II in different populations: the delta525T and deltaexon 18 mutations are not generally ""common"" in white populations." 9950376

1999
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation CLINVAR "Structural and biochemical studies on Pompe disease and a ""pseudodeficiency of acid alpha-glucosidase""." 17805474

2007
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 CausalMutation CLINVAR "Structural and biochemical studies on Pompe disease and a ""pseudodeficiency of acid alpha-glucosidase""." 17805474

2007
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation CLINVAR 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 CausalMutation CLINVAR 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 CLINVAR 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 CausalMutation CLINVAR 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 CausalMutation CLINVAR Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene. 9660056

1998
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation CLINVAR 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 CausalMutation CLINVAR 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 CausalMutation CLINVAR Pompe disease (glycogen storage disease type II, acid maltase deficiency) is caused by deficiency of lysosomal acid α-glucosidase (GAA). 21484825

2011
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation CLINVAR Pompe disease (glycogen storage disease type II, acid maltase deficiency) is caused by deficiency of lysosomal acid α-glucosidase (GAA). 21484825

2011
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 CausalMutation CLINVAR 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 CLINVAR 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 CausalMutation CLINVAR A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy. 25052852

2014
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation CLINVAR A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy. 25052852

2014
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 CausalMutation CLINVAR 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: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation CLINVAR 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: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation CLINVAR A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan. 29124014

2018
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 CausalMutation CLINVAR A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan. 29124014

2018
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation CLINVAR A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease). 24976573

2014
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation CLINVAR 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 CLINVAR A novel mutation of the GAA gene in a patient with adult-onset Pompe disease lacking a disease-specific pathology. 24190153

2013
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 CausalMutation CLINVAR Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation. 7881425

1994
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation CLINVAR Acid maltase deficiency presenting with a myopathy and exercise induced urinary incontinence in a 68 year old male. 1895140

1991