Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs192044702
rs192044702
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		G 0.700 CausalMutation CLINVAR Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation. 25489661

2017
dbSNP: rs192044702
rs192044702
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		G 0.700 CausalMutation CLINVAR Teaching NeuroImages: Prominent spinal cord atrophy and white matter changes in adult polyglucosan body disease. 28507268

2017
dbSNP: rs192044702
rs192044702
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		G 0.700 CausalMutation CLINVAR Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy. 26886200

2016
dbSNP: rs192044702
rs192044702
GBE1
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic 		G 0.700 CausalMutation CLINVAR Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue. 26166723

2016
dbSNP: rs192044702
rs192044702
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		G 0.700 CausalMutation CLINVAR Glycogen Storage Disease Type IV: A Case With Histopathologic Findings in First-Trimester Placental Tissue. 26166723

2016
dbSNP: rs192044702
rs192044702
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		G 0.700 CausalMutation CLINVAR Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations. 23218673

2013
dbSNP: rs192044702
rs192044702
GBE1
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic 		G 0.700 CausalMutation CLINVAR Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations. 23218673

2013
dbSNP: rs192044702
rs192044702
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		G 0.700 CausalMutation CLINVAR Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. 23034915

2012
dbSNP: rs192044702
rs192044702
GBE1
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic 		G 0.700 CausalMutation CLINVAR Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. 23034915

2012
dbSNP: rs192044702
rs192044702
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		G 0.700 CausalMutation CLINVAR Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations. 19813197

2010
dbSNP: rs192044702
rs192044702
GBE1
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic 		G 0.700 CausalMutation CLINVAR Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. 20058079

2010
dbSNP: rs192044702
rs192044702
GBE1
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic 		G 0.700 CausalMutation CLINVAR Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations. 19813197

2010
dbSNP: rs192044702
rs192044702
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		G 0.700 CausalMutation CLINVAR Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. 20058079

2010
dbSNP: rs192044702
rs192044702
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		G 0.700 CausalMutation CLINVAR Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2004
dbSNP: rs192044702
rs192044702
GBE1
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic 		G 0.700 CausalMutation CLINVAR Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2004
dbSNP: rs192044702
rs192044702
GBE1
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic 		G 0.700 CausalMutation CLINVAR Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. 9851430

1998
dbSNP: rs192044702
rs192044702
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		G 0.700 CausalMutation CLINVAR Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. 9851430

1998
dbSNP: rs192044702
rs192044702
GBE1
CUI: C1849722
Disease: Polyglucosan Body Disease, Adult Form
Polyglucosan Body Disease, Adult Form 		G 0.700 CausalMutation CLINVAR