DisGeNET - a database of gene-disease associations

Glycogen storage disease type II, C0017921

Variant: rs200856561 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs200856561

GAA

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

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

UNIPROT

Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.

14695532

2004

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

UNIPROT

Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype.

8834250

1996

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

UNIPROT

Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II.

8401535

1993

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

UNIPROT

Two clinical forms of glycogen-storage disease type II in two generations of the same family.

16433701

2006

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

UNIPROT

Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.

14972326

2004

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

CLINVAR

A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.

29124014

2018

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

UNIPROT

Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.

9521422

1998

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

UNIPROT

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.

18425781

2008

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

UNIPROT

Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.

12923862

2003

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

UNIPROT

A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease.

16782080

2006

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

UNIPROT

Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.

15668445

2005

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

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

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

CLINVAR

Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.

20080426

2010

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

UNIPROT

Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.

10737124

1998

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

UNIPROT

Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.

1684505

1991

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

CLINVAR

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.

22644586

2012

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

UNIPROT

Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.

20080426

2010

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

UNIPROT

New GAA mutations in Japanese patients with GSDII (Pompe disease).

14643388

2003

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

CLINVAR

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

29122469

2017

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

UNIPROT

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.

19588081

2009

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

UNIPROT

Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.

18429042

2008

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

CLINVAR

Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease.

28450385

2017

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

UNIPROT

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).

11738358

2002

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

UNIPROT

Identification of a de novo point mutation resulting in infantile form of Pompe's disease.

7695647

1995