×
Entrez Id: 2538
Gene Symbol: G6PC
G6PC
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
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
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: 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: 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
Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.
7717400 1995
×
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
Glycogen Storage Disease
0.400
CausalMutation
CLINVAR
Muscle phosphofructokinase deficiency in two generations.
8880699 1996
×
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: 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: 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: 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: 2998
Gene Symbol: GYS2
GYS2
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: 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: 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: 2542
Gene Symbol: SLC37A4
SLC37A4
Glycogen Storage Disease
0.500
CausalMutation
CLINVAR
Molecular diagnosis of type 1c glycogen storage disease.
10323254 1999
×
Entrez Id: 51399
Gene Symbol: TRAPPC4
TRAPPC4
Glycogen Storage Disease
0.100
CausalMutation
CLINVAR
Molecular diagnosis of type 1c glycogen storage disease.
10323254 1999
×
Entrez Id: 2542
Gene Symbol: SLC37A4
SLC37A4
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: 51399
Gene Symbol: TRAPPC4
TRAPPC4
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: 2538
Gene Symbol: G6PC
G6PC
Glycogen Storage Disease
0.500
CausalMutation
CLINVAR
Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.
15316959 2004
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
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
Glycogen Storage Disease
0.460
GeneticVariation
CLINVAR
Two new missense mutations of GAA in late onset glycogen storage disease type II.
17092519 2006
×
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
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
CausalMutation
CLINVAR
Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.
18458862 2008
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen Storage Disease
0.460
GeneticVariation
CLINVAR
Structural aspects of therapeutic enzymes to treat metabolic disorders.
19790257 2009