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

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

CLINVAR

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

29122469

2017

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

CLINVAR

Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.

28196920

2017

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

CLINVAR

Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study.

27183828

2016

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

CLINVAR

Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth.

25466677

2015

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

CLINVAR

Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan.

24513544

2014

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

UNIPROT

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

25173338

2014

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

CLINVAR

Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.

21232767

2011

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

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

20080426

2010

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

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

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

UNIPROT

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

18429042

2008

dbSNP:

rs200856561

GAA

0.800

GeneticVariation

UNIPROT

Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.

17643989

2007

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

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

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

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

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: