Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 GeneticVariation 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
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 CausalMutation 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
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 Biomarker 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
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 CausalMutation 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
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 GeneticVariation BEFREE A novel GBE1 gene variant in a child with glycogen storage disease type IV. 27107456

2016
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 CausalMutation 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
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 CausalMutation 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
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 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: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 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: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 GeneticVariation CLINVAR Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease. 25665141

2015
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 GeneticVariation CLINVAR Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design. 26199317

2015
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 GeneticVariation CLINVAR Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family. 25728520

2015
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 CausalMutation CLINVAR Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design. 26199317

2015
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 Biomarker 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
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 CausalMutation CLINVAR Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease. 25665141

2015
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 CausalMutation 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
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 GeneticVariation CLINVAR Branching enzyme deficiency: expanding the clinical spectrum. 24248152

2014
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 GeneticVariation 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
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 CausalMutation 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
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 CausalMutation CLINVAR Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. 23034915

2012
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 GeneticVariation CLINVAR Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. 23034915

2012
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 Biomarker 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
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 GeneticVariation 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
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 CausalMutation 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
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		1.000 Biomarker 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