Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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 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 CausalMutation CLINVAR Pompe disease: design, methodology, and early findings from the Pompe Registry. 21439876

2011
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 CausalMutation CLINVAR Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents. 24150945

2014
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.460 CausalMutation 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 CausalMutation CLINVAR Rapid progressive course of later-onset Pompe disease in Chinese patients. 21757382

2011
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.460 CausalMutation 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
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.460 CausalMutation CLINVAR Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype. 17210890

2007
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.460 CausalMutation CLINVAR Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening. 21232767

2011
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.460 CausalMutation 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 CausalMutation CLINVAR Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease. 23430493

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 CausalMutation CLINVAR The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease. 24008051

2014
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 CausalMutation CLINVAR Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. 16917947

2006
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