Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.460 GeneticVariation CLINVAR Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation. 25526786

2014
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.460 GeneticVariation CLINVAR Three patients with glycogen storage disease type II and the mutational spectrum of GAA in Korean patients. 23884227

2013
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.460 GeneticVariation CLINVAR Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones. 21471980

2011
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.460 GeneticVariation 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
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.460 GeneticVariation CLINVAR Structural aspects of therapeutic enzymes to treat metabolic disorders. 19790257

2009
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.460 GeneticVariation CLINVAR The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase. 19862843

2009
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.460 GeneticVariation CLINVAR Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype. 25213570

2014
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.460 GeneticVariation CLINVAR Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population. 28433475

2017
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.460 GeneticVariation CLINVAR Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. 27363342

2017
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.460 GeneticVariation CLINVAR Two new missense mutations of GAA in late onset glycogen storage disease type II. 17092519

2006
Entrez Id: 2998
Gene Symbol: GYS2
GYS2
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.440 GeneticVariation CLINVAR A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0. 20051115

2010
Entrez Id: 2998
Gene Symbol: GYS2
GYS2
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.440 GeneticVariation CLINVAR Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. 9691087

1998
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.430 GeneticVariation CLINVAR A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa. 8990006

1997
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.430 GeneticVariation CLINVAR A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients. 9412782

1998
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.430 GeneticVariation CLINVAR Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations. 26984562

2016
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.430 GeneticVariation CLINVAR A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series. 25602008

2015
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.500 CausalMutation CLINVAR Molecular diagnosis of type 1c glycogen storage disease. 10323254

1999
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.500 CausalMutation CLINVAR Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients. 10923042

2000
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.500 CausalMutation CLINVAR Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. 15316959

2004
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.500 CausalMutation CLINVAR A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. 9758626

1998
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.500 CausalMutation CLINVAR Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. 8211187

1993
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.460 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970

2015
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.460 CausalMutation CLINVAR Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum. 26231297

2015
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.460 CausalMutation CLINVAR Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation. 17616415

2007
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.460 CausalMutation CLINVAR Pompe disease: design, methodology, and early findings from the Pompe Registry. 21439876

2011