Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.100 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: 51399
Gene Symbol: TRAPPC4
TRAPPC4
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.100 CausalMutation CLINVAR Molecular diagnosis of type 1c glycogen storage disease. 10323254

1999
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.100 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: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.400 CausalMutation CLINVAR Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin secretion and causes insulin resistance. 9389749

1997
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.400 CausalMutation CLINVAR Muscle phosphofructokinase deficiency in two generations. 8880699

1996
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.400 CausalMutation CLINVAR Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency. 8037209

1994
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: 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 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: 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: 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