×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen Storage Disease
0.460
CausalMutation
CLINVAR
A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).
7981676 1994
×
Entrez Id: 178
Gene Symbol: AGL
AGL
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
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: 51399
Gene Symbol: TRAPPC4
TRAPPC4
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: 178
Gene Symbol: AGL
AGL
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
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: 178
Gene Symbol: AGL
AGL
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: 2548
Gene Symbol: GAA
GAA
Glycogen Storage Disease
0.460
CausalMutation
CLINVAR
Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation.
7881425 1994
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
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
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
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
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: 5213
Gene Symbol: PFKM
PFKM
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: 5213
Gene Symbol: PFKM
PFKM
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: 2548
Gene Symbol: GAA
GAA
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
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
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
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
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
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
Glycogen Storage Disease
0.460
CausalMutation
CLINVAR
Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.
8558570 1995
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen Storage Disease
0.460
CausalMutation
CLINVAR
Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.
9535769 1998
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
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
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
Glycogen Storage Disease
0.460
CausalMutation
CLINVAR
Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.
23430493 2013