Source: ALL

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 Biomarker BEFREE Alglucosidase alfa (recombinant human GAA (rhGAA)) received approval in 2006 as a treatment for Pompe disease at the 160 L production scale. 29565424

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 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 [Clinical and gene mutation analysis of three children with late-onset glycogen storage disease type Ⅱ with hypertrophic cardiomyopathy]. 28592009

2017
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 AlteredExpression BEFREE Glycogen storage disease type II (GSDII) is a lysosomal disorder caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme, leading to the accumulation of glycogen within the lysosomes. 28629821

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 Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease. 28648663

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 Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report. 27142047

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 Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease. 27344650

2017
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation CLINVAR Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease. 28450385

2017
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation CLINVAR Skeletal muscle metabolism during prolonged exercise in Pompe disease. 28490439

2017
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273

2017
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation BEFREE Deficiency of the lysosomal enzyme acid α-glucosidase (GAA) causes Pompe disease. 28450385

2017
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation CLINVAR Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. 29122469

2017
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 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 GeneticVariation BEFREE We present a patient who was initially diagnosed with Pompe disease and treated with alglucosidase-alfa enzyme replacement therapy (ERT); however, he was eventually diagnosed to carrying a PRKAG2 pathogenic gene mutation; he did not have Pompe disease instead he was a carrier for the common adult leaky splice site mutation in the GAA gene. 27692944

2017
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 AlteredExpression BEFREE The highly stereocontrolled de novo synthesis of l-NBDNJ (the unnatural enantiomer of the iminosugar drug Miglustat) and a preliminary evaluation of its chaperoning potential are herein reported. l-NBDNJ is able to enhance lysosomal α-glucosidase levels in Pompe disease fibroblasts, either when administered singularly or when coincubated with the recombinant human α-glucosidase. 29112434

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 Late-onset pompe disease in Iran: A clinical and genetic report. 27649523

2017
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 Biomarker BEFREE In conclusion, we identified the MED for effective AAV2/8-LSPhGAA-mediated tolerogenic gene therapy in Pompe disease mice. 28344998

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 Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. 29122469

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 New mutations and genotype-phenotype correlation in late-onset Pompe patients. 28032299

2017
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 AlteredExpression BEFREE Thus, we created an acid alpha-glucosidase (gaa) gene-mutated zebrafish model of GSD II and examined the sequential pathogenic changes. gaa mRNA and protein expression, enzymatic activity, and lysosomal glycogen accumulation were assessed, and the phenotypic changes were compared between wild-type (WT) and gaa-mutated zebrafish. 28045567

2017
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation CLINVAR Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease. 27344650

2017
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation BEFREE The most common variant causing Pompe disease is c.-32-13T>G (IVS1) in the acid α-glucosidase (GAA) gene, which weakens the splice acceptor of GAA exon 2 and induces partial and complete exon 2 skipping. 28624228

2017
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 Biomarker BEFREE Pompe disease (glycogenosis type II) is caused by lysosomal alpha-glucosidase deficiency, which leads to a block in intra-lysosomal glycogen breakdown. 28490439

2017
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation CLINVAR Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease. 28196920

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 Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease. 28657663

2017