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 GeneticVariation CLINVAR 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 CLINVAR CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy. 25741864

2015
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 CausalMutation CLINVAR Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. 22081099

2012
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 Rapid progressive course of later-onset Pompe disease in Chinese patients. 21757382

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 [Analysis of clinical features of 6 patients with infantile type glycogen storage disease type II]. 26310554

2015
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 CausalMutation CLINVAR The emerging phenotype of long-term survivors with infantile Pompe disease. 22538254

2012
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation CLINVAR Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case. 20202878

2010
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 CausalMutation CLINVAR Auditory system involvement in late onset Pompe disease: a study of 20 Italian patients. 22958975

2012
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 CausalMutation CLINVAR Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease. 24715333

2015
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation CLINVAR 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 CausalMutation CLINVAR Trunk muscle involvement in late-onset Pompe disease: study of thirty patients. 22980766

2012
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation CLINVAR [Clinical manifestations, course and outcome of enzyme replacement therapy in Hungarian patients with Pompe's disease]. 21920843

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 Structural aspects of therapeutic enzymes to treat metabolic disorders. 19790257

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 Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations. 28394184

2017
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 CausalMutation CLINVAR 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 CLINVAR Endoplasmic reticulum stress induces autophagy through activation of p38 MAPK in fibroblasts from Pompe disease patients carrying c.546G>T mutation. 21982629

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 [Severe form of juvenile type II glycogenosis in a compound-heterozygous boy (Tyr-292--> Cys/Arg-854-->Stop)]. 10528311

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 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 Acute progression of neuromuscular findings in infantile Pompe disease. 20472203

2010
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation CLINVAR Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. 15121988

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 Bone density in patients with late onset Pompe disease. 23843830

2012
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation CLINVAR Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease. 24444888

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 Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing. 19609281

2009
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation CLINVAR Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy. 22194990

2011