SI, sucrase-isomaltase, 6476

N. diseases: 117; N. variants: 15
Disease: Glycogen storage disease type II ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Pompe disease (PD) is a monogenic disorder caused by mutations in the acid alpha-glucosidase gene (<i>Gaa</i>). 31392199 2019
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Pompe disease (PD) is caused by a deficiency of lysosomal acid α-glucosidase resulting from mutations in the GAA gene. 30155607 2018
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Pompe disease or glycogen-storage disease type 2 (GSD2, OMIM 232300) is an autosomal recessive disorder caused by mutations in the acid alpha-glucosidase gene. 20350966 2010
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Pompe disease is an autosomal recessive lysosomal storage disorder caused by disease-associated variants in the acid alpha-glucosidase (GAA) gene. 31254424 2019
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Glycogen storage disease II (GSDII), also called Pompe disease, is an autosomal recessive inherited disease caused by a defect in glycogen metabolism due to the deficiency of the enzyme acid alpha-glucosidase (GAA) responsible for its degradation. 31301153 2019
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE In this study, we introduced a gene encoding recombinant human acid α-glucosidase (rhGAA), which is used in ERT for Pompe disease, into gnt1 rice callus by particle bombardment. 28363873 2017
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE The analysis revealed that the amino acid substitutions causing a processing or transport defect responsible for Pompe disease were widely spread over all of the five domains comprising the acid alpha-glucosidase. 19343043 2009
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Pompe disease (PD) is an autosomal recessive, lysosomal storage disease due to a mutation of the acid α-glucosidase (GAA) gene. 29523196 2018
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Neonatal screening for Pompe disease is complicated by difficulties in predicting symptom onset in patients with the common c.-32-13T>G (IVS1) variant/null (i.e. fully deleterious) acid α-glucosidase (GAA) genotype. 30922962 2019
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II. 12923862 2003
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Glycogen storage disease type II (Pompe disease; MIM 232300) stems from the inherited deficiency of acid-α-glucosidase (GAA; acid maltase; EC 3.2.1.20), which primarily involves cardiac and skeletal muscles. 20686508 2010
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE The infantile form of GSD II (an inherited deficiency of the lysosomal enzyme, acid alpha-glucosidase, Pompe disease) is a severe and invariably fatal disease characterized by a rapidly progressive generalized hypotonia, hepatomegaly, and cardiomegaly. 10189220 1999
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE A novel acid alpha-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II. 9266392 1997
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE 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
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease 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
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Glycogen storage disease type II (GSDII) is a recessively inherited disorder due to the deficiency of acid alpha-glucosidase (GAA) that results in impaired glycogen degradation and its accumulation in the lysosomes. 16917947 2006
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE A unique family is presented which consists of a patient with the juvenile muscular dystrophy form of glycogenosis type II and four healthy individuals, both parents and sisters, with low acid alpha-glucosidase activity. 3282727 1988
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Identification of variants in the acid α-glucosidase (GAA) gene in Pompe disease provides valuable insights and systematic overviews are needed. 31342611 2019
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Pompe disease is a rare lysosomal glycogen storage disorder linked to the acid alpha-glucosidase gene (GAA). 29451150 2018
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Enzyme replacement therapy (ERT) for Pompe disease using recombinant acid alpha-glucosidase (rhGAA) has resulted in increased survival although the clinical response is variable. 22252923 2012
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Two novel mutations in acid α-glucosidase gene in two patients with Pompe disease. 25026126 2014
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Pompe disease (PD) is a rare condition caused by mutations in gene encoding for the enzyme alpha-glucosidase, resulting in an abnormal intracellular accumulation of glycogen. 30166092 2018
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Glycogen storage disease, type II (GSDII; Pompe disease; acid maltase deficiency) is an autosomal recessive disease caused by mutations of the GAA gene that lead to deficient acid alpha-glucosidase enzyme activity and accumulation of lysosomal glycogen. 17723315 2007
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Glycogen storage disease type II (GSD II) is an autosomal recessive inherited disorder due to the deficiency of the enzyme acid alpha-glucosidase, which causes an accumulation of glycogen in lysosomes. 10899751 2000
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.100 GeneticVariation disease BEFREE Application of this approach to one novel and six previously published variants in the acid-alpha glucosidase (GAA) gene causing Pompe disease enabled detection of a total of 11 novel splicing events. 25243733 2015