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 A first-in-human trial of diaphragmatic gene therapy (AAV1-CMV-GAA) to treat respiratory and neural dysfunction in early-onset Pompe disease was conducted. 29160099

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
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 with complicated intracranial aneurysm: a Chinese case report. 27099502

2016
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 CausalMutation CLINVAR Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. 27170567

2016
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 CausalMutation CLINVAR Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function. 27711114

2016
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 CausalMutation CLINVAR Childhood Pompe disease: clinical spectrum and genotype in 31 patients. 27189384

2016
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation BEFREE Pompe disease is due to deficiency in acid α-glucosidase (GAA) leading to lysosomal accumulation of glycogen in all cell types, abnormal myofibrillogenesis, respiratory insufficiency, neurological deficits, and reduced contractile function in striated muscle. 27855487

2016
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation CLINVAR LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population. 25783438

2016
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 CausalMutation CLINVAR Multiple, Successful Pregnancies in Pompe Disease. 26572913

2016
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 Biomarker BEFREE However, the paucity of cation-independent mannose-6-phosphate receptor (CI-MPR) in skeletal muscle, where it is needed to take up rhGAA, correlated with a poor response to ERT by muscle in Pompe disease. 27017193

2016
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation CLINVAR Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study. 27183828

2016
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation BEFREE By NGS technology, 2 mutations in the GAA gene (intervening sequence 1 and a missense mutation in exon 11) allowed us to make a definite diagnosis of glycogenosis type II (Pompe disease) and start enzyme replacement therapy at age 71. 26800218

2016
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 GeneticVariation BEFREE Pompe disease is an autosomal recessive disease resulting from deficiency of the acid alpha-glucosidase (GAA). 26873529

2016
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 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 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 Morphology and function of cerebral arteries in adults with pompe disease. 25614309

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 c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype. 26160551

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 [Clinical characteristics and gene mutation analysis of one pedigree with infantile glycogen storage disease type II]. 26575883

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 Autophagy in Natural History and After ERT in Glycogenosis Type II. 25712382

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 Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany. 25626711

2015
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		1.000 Biomarker BEFREE Deficiency of acid alpha glucosidase (GAA) causes Pompe disease in which the patients systemically accumulate lysosomal glycogen in muscles and nervous systems, often resulting in infant mortality. 26053072

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 Autophagy in Natural History and After ERT in Glycogenosis Type II. 25712382

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 Disease modeling and lentiviral gene transfer in patient-specific induced pluripotent stem cells from late-onset Pompe disease patient. 26199952

2015