rs386834236
|
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Glycogen storage disease type II in Israel.
|
3132435 |
1988 |
rs764622267
|
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Glycogen storage disease type II in Israel.
|
3132435 |
1988 |
rs386834236
|
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.
|
8558570 |
1995 |
rs764622267
|
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.
|
8558570 |
1995 |
rs386834236
|
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype.
|
8990003 |
1997 |
rs764622267
|
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype.
|
8990003 |
1997 |
rs386834236
|
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.
|
12897283 |
2003 |
rs764622267
|
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.
|
12897283 |
2003 |
rs386834236
|
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Disease severity in children and adults with Pompe disease related to age and disease duration.
|
15985590 |
2005 |
rs764622267
|
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Disease severity in children and adults with Pompe disease related to age and disease duration.
|
15985590 |
2005 |
rs386834236
|
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Pompe disease diagnosis and management guideline.
|
16702877 |
2006 |
rs386834236
|
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.
|
16737883 |
2006 |
rs764622267
|
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.
|
16737883 |
2006 |
rs764622267
|
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Pompe disease diagnosis and management guideline.
|
16702877 |
2006 |
rs386834236
|
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.
|
17151339 |
2007 |
rs386834236
|
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Sibling phenotype concordance in classical infantile Pompe disease.
|
17853454 |
2007 |
rs764622267
|
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.
|
17151339 |
2007 |
rs764622267
|
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Sibling phenotype concordance in classical infantile Pompe disease.
|
17853454 |
2007 |
rs386834236
|
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Dysmorphic features
|
G |
0.700 |
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 |
rs764622267
|
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Dysmorphic features
|
G |
0.700 |
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 |
rs386834236
|
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease.
|
19542901 |
2009 |
rs764622267
|
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease.
|
19542901 |
2009 |
rs386834236
|
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy.
|
21631931 |
2011 |
rs386834236
|
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Rapid progressive course of later-onset Pompe disease in Chinese patients.
|
21757382 |
2011 |
rs764622267
|
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy.
|
21631931 |
2011 |