|
rs765718882
|
|
Glycogen storage disease type II
|
|
0.720 |
GeneticVariation
|
BEFREE |
Generation of induced pluripotent stem cells (iPSCs) from an infant with Pompe disease carrying with compound mutations of R608X and E888X in GAA gene.
|
31743840 |
2019 |
|
rs749529161
|
|
Glycogen storage disease type II
|
|
0.010 |
GeneticVariation
|
BEFREE |
Generation of induced pluripotent stem cells (iPSCs) from an infant with Pompe disease carrying with compound mutations of R608X and E888X in GAA gene.
|
31743840 |
2019 |
|
rs577915581
|
|
Glycogen storage disease type II
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.
|
31076647 |
2019 |
|
rs200856561
|
|
Glycogen storage disease type II
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.
|
31076647 |
2019 |
|
rs1800307
|
|
Glycogen storage disease type II
|
|
0.030 |
GeneticVariation
|
BEFREE |
Thus, it was difficult to distinguish newborns with c.[1726G>A; 2965G>A] alleles from newborns with pre-symptomatic Pompe disease using AαGlu assays in DBSs or fibroblasts; GAA gene sequencing was necessary.
|
31076647 |
2019 |
|
rs564758226
|
|
Glycogen storage disease type II
|
|
0.010 |
GeneticVariation
|
BEFREE |
The deleterious effect of c.510C>T was also found in muscle cells, the main target cells in Pompe disease.
|
30922962 |
2019 |
|
rs369531647
|
|
Glycogen storage disease type II
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Pompe Disease Could Mimic Exam Findings of Amyloidosis: Two Rare Diagnoses Bona Fide.
|
30510819 |
2018 |
|
rs755253527
|
|
Glycogen storage disease type II
|
T |
0.800 |
CausalMutation
|
CLINVAR |
The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.
|
30023291 |
2018 |
|
rs752921215
|
|
Glycogen storage disease type II
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.
|
29451150 |
2018 |
|
rs121907936
|
|
Glycogen storage disease type II
|
C |
0.810 |
GeneticVariation
|
CLINVAR |
Pompe disease in Austria: clinical, genetic and epidemiological aspects.
|
29181627 |
2018 |
|
rs398123174
|
|
Glycogen storage disease type II
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Pompe disease in Austria: clinical, genetic and epidemiological aspects.
|
29181627 |
2018 |
|
rs121907945
|
|
Glycogen storage disease type II
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Pompe disease in Austria: clinical, genetic and epidemiological aspects.
|
29181627 |
2018 |
|
rs140826989
|
|
Glycogen storage disease type II
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Pompe disease in Austria: clinical, genetic and epidemiological aspects.
|
29181627 |
2018 |
|
rs577915581
|
|
Glycogen storage disease type II
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.
|
29124014 |
2018 |
|
rs528367092
|
|
Glycogen storage disease type II
|
A |
0.800 |
CausalMutation
|
CLINVAR |
A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.
|
29124014 |
2018 |
|
rs200856561
|
|
Glycogen storage disease type II
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.
|
29124014 |
2018 |
|
rs759518659
|
|
Glycogen storage disease type II
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.
|
29124014 |
2018 |
|
rs759518659
|
|
Glycogen storage disease type II
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.
|
29124014 |
2018 |
|
rs747610090
|
|
Glycogen storage disease type II
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.
|
29124014 |
2018 |
|
rs121907936
|
|
Glycogen storage disease type II
|
C |
0.810 |
GeneticVariation
|
CLINVAR |
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
|
29122469 |
2017 |
|
rs577915581
|
|
Glycogen storage disease type II
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
|
29122469 |
2017 |
|
rs543300039
|
|
Glycogen storage disease type II
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
|
29122469 |
2017 |
|
rs398123172
|
|
Glycogen storage disease type II
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
|
29122469 |
2017 |
|
rs200856561
|
|
Glycogen storage disease type II
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
|
29122469 |
2017 |
|
rs121907945
|
|
Glycogen storage disease type II
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
|
29122469 |
2017 |