Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 GeneticVariation disease LHGDN The molecular analysis of the GAA gene was performed on 45 Italian patients with late onset GSDII. 17915575 2007
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 GeneticVariation disease UNIPROT Two clinical forms of glycogen-storage disease type II in two generations of the same family. 16433701 2006
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 GeneticVariation disease CLINVAR Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. 11071489 2000
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease CLINVAR "Structural and biochemical studies on Pompe disease and a ""pseudodeficiency of acid alpha-glucosidase""." 17805474 2007
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 GeneticVariation disease BEFREE Pompe disease (PD) is an autosomal recessive, lysosomal storage disease due to a mutation of the acid α-glucosidase (GAA) gene. 29523196 2018
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II. 7881422 1994
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 GeneticVariation disease UNIPROT 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease LHGDN Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype. 15668445 2005
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 GeneticVariation disease CLINVAR Structural aspects of therapeutic enzymes to treat metabolic disorders. 19790257 2009
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II. 8401535 1993
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease CLINVAR Pompe disease is caused by mutations in the acid alpha-glucosidase (GAA) gene. 10338092 1999
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 GeneticVariation disease CLINVAR Acute progression of neuromuscular findings in infantile Pompe disease. 20472203 2010
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 GeneticVariation disease CLINVAR Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. 15121988 2004
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 GeneticVariation disease BEFREE 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 		1.000 GeneticVariation disease CLINVAR Bone density in patients with late onset Pompe disease. 23843830 2012
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 GeneticVariation disease BEFREE Pompe disease is caused by mutations in the acid alpha-glucosidase (GAA) gene. 10338092 1999
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease CLINVAR Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy. 22194990 2011