Gene: GBE1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 GeneticVariation disease BEFREE 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 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 Biomarker disease BEFREE Deficiency of glycogen branching enzyme (GBE) causes glycogen storage disease type IV (GSD IV), which is characterized by the accumulation of a less branched, poorly soluble form of glycogen called polyglucosan (PG) in multiple tissues. 27832700 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 GeneticVariation disease BEFREE A novel GBE1 gene variant in a child with glycogen storage disease type IV. 27107456 2016
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 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 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 Biomarker disease MGD 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 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 GeneticVariation disease BEFREE GBE1 mutations cause glycogen storage disease IV (GSD IV), including a severe foetal akinesia sub-phenotype. 23218673 2013
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 Biomarker disease GENOMICS_ENGLAND Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature. 23137060 2012
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 GeneticVariation disease BEFREE A review of the literature for glycogen storage disease type IV patients with characterized molecular defects and deficient enzyme activity reveals most GBE1 mutations to be missense mutations clustering in the catalytic enzyme domain. 22305237 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 Biomarker disease BEFREE Anderson disease, also known as glycogen storage disease type IV (MIM 232500), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme. 21917543 2012
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1.000 Biomarker disease GENOMICS_ENGLAND Metabolic disorders of fetal life: glycogenoses and mitochondrial defects of the mitochondrial respiratory chain. 21620786 2011