Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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
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