Gene: GBE1 ×
Source: INFERRED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 CausalMutation disease CLINVAR Teaching NeuroImages: Prominent spinal cord atrophy and white matter changes in adult polyglucosan body disease. 28507268 2017
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 CausalMutation disease CLINVAR Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation. 25489661 2017
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 CausalMutation disease CLINVAR Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy. 26886200 2016
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 CausalMutation disease CLINVAR Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue. 26166723 2016
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 GeneticVariation disease CLINVAR Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease. 25665141 2015
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 GeneticVariation disease CLINVAR Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design. 26199317 2015
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 GeneticVariation disease CLINVAR Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family. 25728520 2015
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 CausalMutation disease CLINVAR Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design. 26199317 2015
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 CausalMutation disease CLINVAR Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease. 25665141 2015
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 CausalMutation disease CLINVAR Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme (GBE). 26385640 2015
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 GeneticVariation disease CLINVAR Branching enzyme deficiency: expanding the clinical spectrum. 24248152 2014
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 CausalMutation disease CLINVAR 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 		1.000 CausalMutation disease CLINVAR Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. 23034915 2012
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 GeneticVariation disease CLINVAR Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. 23034915 2012
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 CausalMutation disease CLINVAR Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation. 21917543 2012
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 CausalMutation disease CLINVAR Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways. 20655781 2011
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 CausalMutation disease CLINVAR Progress and problems in muscle glycogenoses. 22106711 2011
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 GeneticVariation disease CLINVAR A variety of disease-causing mutations have been identified in the GBE1 gene in GSD IV patients, many of whom presented with diverse clinical phenotypes. 20058079 2010
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 CausalMutation disease CLINVAR A variety of disease-causing mutations have been identified in the GBE1 gene in GSD IV patients, many of whom presented with diverse clinical phenotypes. 20058079 2010
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 CausalMutation disease CLINVAR Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations. 19813197 2010
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 GeneticVariation disease CLINVAR Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period. 19438752 2009
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 GeneticVariation disease CLINVAR Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene. 17994551 2008
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 CausalMutation disease CLINVAR Deficiency of glycogen branching enzyme is causative of Glycogen Storage Disease type IV (GSD-IV), a rare autosomal recessive disorder of the glycogen synthesis, characterized by the accumulation of amylopectin-like polysaccharide, also known as polyglucosan, in almost all tissues. 17915577 2007
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 GeneticVariation disease CLINVAR This study expands the spectrum of mutations in the GBE gene and confirms that the neuromuscular presentation of GSD-IV is clinically and genetically heterogeneous. 15452297 2004
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 CausalMutation disease CLINVAR This study expands the spectrum of mutations in the GBE gene and confirms that the neuromuscular presentation of GSD-IV is clinically and genetically heterogeneous. 15452297 2004