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 		0.100 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 		0.100 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 		0.100 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 		0.100 CausalMutation disease CLINVAR A novel mouse model that recapitulates adult-onset glycogenosis type 4. 26385640 2015
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		0.100 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 		0.100 GeneticVariation disease CLINVAR Branching enzyme deficiency: expanding the clinical spectrum. 24248152 2014
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		0.100 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 		0.100 CausalMutation disease CLINVAR Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. 23034915 2012
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		0.100 GeneticVariation disease CLINVAR Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. 23034915 2012
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		0.100 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 		0.100 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 		0.100 CausalMutation disease CLINVAR Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. 20058079 2010
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		0.100 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 		0.100 CausalMutation disease CLINVAR Neuromuscular forms of glycogen branching enzyme deficiency. 17915577 2007
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		0.100 CausalMutation disease CLINVAR "Neonatal type IV glycogen storage disease associated with ""null"" mutations in glycogen branching enzyme 1." 15520786 2004
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		0.100 CausalMutation disease CLINVAR Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297 2004
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		0.100 CausalMutation disease CLINVAR A neonatal form of glycogen storage disease type IV. 12913206 2003
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		0.100 GeneticVariation disease CLINVAR Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. 10762170 2000
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		0.100 CausalMutation disease CLINVAR Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. 9851430 1998
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		0.100 CausalMutation disease CLINVAR Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547 1996
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		0.100 GeneticVariation disease CLINVAR Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547 1996