Gene: GAA ×
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 CausalMutation disease CLINVAR [The physiology of bed rest]. 2510307 1989
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 CausalMutation disease CLINVAR [Juvenile Pompe disease: retrospective clinical study]. 24016645 2014
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 GeneticVariation disease CLINVAR [Enzyme replacement therapy in a boy with infantile Pompe disease: cardiac follow-up]. 18995995 2008
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 CLINVAR [Clinical features and acid alpha-glucosidase gene mutation in 7 Chinese patients with glycogen storage disease type II]. 24169249 2013
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR [Clinical and molecular genetic study on two patients of the juvenile form of Pompe disease in China]. 18211760 2007
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 GeneticVariation disease CLINVAR [Clinical and molecular genetic study on two patients of the juvenile form of Pompe disease in China]. 18211760 2007
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR [Application of enzyme assay and gene analysis in the prenatal diagnosis for a family with glycogen storage disease type II]. 21644219 2011
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 Biomarker disease CTD_human [Application of enzyme assay and gene analysis in the prenatal diagnosis for a family with glycogen storage disease type II]. 21644219 2011
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 Therapeutic disease CTD_human [Application of enzyme assay and gene analysis in the prenatal diagnosis for a family with glycogen storage disease type II]. 21644219 2011
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 CausalMutation 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 CLINVAR [A new treatment principle in the therapy of postoperative paralytic ileus]. 5614309 1967
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 CausalMutation disease CLINVAR Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns. 21803581 2011
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 AlteredExpression disease BEFREE Whether acid maltase in normal urine originates in the kidney or cells of the lower urinary tract, the enzyme defect seems to be expressed in these cells in late-onset acid maltase deficiency. 9923 1976
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 AlteredExpression disease BEFREE Western blot analysis showed that AMD quail muscle injected with AxCANAM expressed human AM protein processed to active forms. 9694159 1998
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 Biomarker disease BEFREE We tested several compounds in order to identify novel small molecules that prevent premature degradation of the mutant lysosomal enzymes α-galactosidase A (for Fabry disease (FD)) and acid α-glucosidase (GAA) (for Pompe disease (PD)). 25409744 2015
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 AlteredExpression disease BEFREE We studied the effects of two imino sugars, deoxynojirimycin (DNJ) and N-butyldeoxynojirimycin (NB-DNJ), on residual GAA activity in fibroblasts from eight patients with different forms of Pompe disease (two classic infantile, two non-classic infantile onset, four late-onset forms), and with different mutations of the GAA gene. 17213836 2007
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 GeneticVariation disease UNIPROT We report here the complete molecular analysis of the GAA gene performed on 40 Italian patients with late onset GSDII. 16917947 2006
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 GeneticVariation disease LHGDN We report here the complete molecular analysis of the GAA gene performed on 40 Italian patients with late onset GSDII. 16917947 2006
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 GeneticVariation disease BEFREE We report here the complete molecular analysis of the GAA gene performed on 40 Italian patients with late onset GSDII. 16917947 2006
Entrez Id: 2548
Gene Symbol: GAA
GAA 		1.000 GeneticVariation disease CLINVAR We report here the complete molecular analysis of the GAA gene performed on 40 Italian patients with late onset GSDII. 16917947 2006