Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
0.360 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
0.360 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
0.360 GeneticVariation BEFREE Mutations in the GBE1 gene lead to the heterogeneous early-onset glycogen storage disorder type IV (GSDIV) or the late-onset adult polyglucosan body disease (APBD). 26199317

2015

Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
0.360 GeneticVariation BEFREE Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations. 23218673

2013

Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
0.360 Biomarker BEFREE Our data suggest that glycogen branching enzyme repression in glycogenoses can cause pathogenic polyglucosan buildup, which might be corrected by GS inhibition. 23607684

2013

Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
0.360 GeneticVariation BEFREE Mutations of the glycogen branching enzyme gene, GBE1, result in glycogen storage disease (GSD) type IV, an autosomal recessive disorder having multiple clinical forms. 22943850

2012

Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
0.360 Biomarker BEFREE Comparative biochemical and histopathological evidence suggests that a deficiency in the glycogen branching enzyme, encoded by the GBE1 gene, is responsible for a recently identified recessive fatal fetal and neonatal glycogen storage disease (GSD) in American Quarter Horses termed GSD IV. 15366377

2004

Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
0.360 Biomarker BEFREE Disorders of glycogen, lipid, or mitochondrial metabolism may cause three main clinical syndromes in muscle, namely, (1) progressive weakness with hypotonia (e.g., acid maltase, debrancher enzyme, and brancher enzyme deficiencies among the glycogenoses; carnitine uptake and carnitine acylcarnitine translocase defects among the fatty acid oxidation (FAO) defects; and cytochrome oxidase deficiency among the mitochondrial disorders) or (2) acute, recurrent, reversible muscle dysfunction with exercise intolerance and acute muscle breakdown or myoglobinuria (with or without cramps), e.g., phosphorylase, phosphofructokinase, and phosphoglycerate kinase among the glycogenoses and carnitine palmitoyltransferase II deficiency among the disorders of FAO or (3) both (e.g., long-chain or very long-chain acyl coenzyme A (CoA) dehydrogenase, short-chain L-3-hydroxyacyl-CoA dehydrogenase, and trifunctional protein deficiencies among the FAO defects). 10331465

1999