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 Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients. 31076647

2019

Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
1.000 CausalMutation CLINVAR Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease. 29451150

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 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 Pompe Disease Could Mimic Exam Findings of Amyloidosis: Two Rare Diagnoses Bona Fide. 30510819

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 The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients. 30023291

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 Pompe disease in Austria: clinical, genetic and epidemiological aspects. 29181627

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 Pompe disease in Austria: clinical, genetic and epidemiological aspects. 29181627

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 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 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 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 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 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 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

Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
1.000 GeneticVariation CLINVAR Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy. 26497565

2016