Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.100 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: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.100 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: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.100 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: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.100 CausalMutation CLINVAR A novel mouse model that recapitulates adult-onset glycogenosis type 4. 26385640

2015

Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.100 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: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.100 GeneticVariation CLINVAR Branching enzyme deficiency: expanding the clinical spectrum. 24248152

2014

Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.100 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: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.100 CausalMutation CLINVAR Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. 23034915

2012

Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.100 GeneticVariation CLINVAR Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. 23034915

2012

Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.100 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: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.100 CausalMutation 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
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.100 CausalMutation CLINVAR Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. 20058079

2010

Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.100 CausalMutation CLINVAR Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations. 19813197

2010

Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.100 CausalMutation CLINVAR Neuromuscular forms of glycogen branching enzyme deficiency. 17915577

2007

Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.100 CausalMutation 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
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.100 CausalMutation CLINVAR Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2004

Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.100 CausalMutation CLINVAR A neonatal form of glycogen storage disease type IV. 12913206

2003

Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.100 GeneticVariation CLINVAR Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. 10762170

2000

Entrez Id: 2632
Gene Symbol: GBE1
GBE1
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.100 CausalMutation 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
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.100 CausalMutation 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
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.100 GeneticVariation CLINVAR Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996