Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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: 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 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 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 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 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 CausalMutation CLINVAR Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report. 27099502

2016
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 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 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 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 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 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 CausalMutation CLINVAR Late-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience. 25093132

2014
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 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 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 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 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 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 GeneticVariation CLINVAR Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones. 21471980

2011