Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338671
rs80338671
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		C 0.710 GeneticVariation CLINVAR Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design. 26199317

2015
dbSNP: rs80338671
rs80338671
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		G 0.710 CausalMutation CLINVAR A novel mouse model that recapitulates adult-onset glycogenosis type 4. 26385640

2015
dbSNP: rs80338671
rs80338671
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		C 0.710 GeneticVariation CLINVAR Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease. 25665141

2015
dbSNP: rs80338671
rs80338671
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		G 0.710 CausalMutation CLINVAR Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease. 25665141

2015
dbSNP: rs80338671
rs80338671
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		G 0.710 CausalMutation CLINVAR Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design. 26199317

2015
dbSNP: rs80338671
rs80338671
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		G 0.710 CausalMutation CLINVAR Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. 23034915

2012
dbSNP: rs80338671
rs80338671
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		C 0.710 GeneticVariation CLINVAR Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. 23034915

2012
dbSNP: rs80338671
rs80338671
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		G 0.710 CausalMutation CLINVAR Progress and problems in muscle glycogenoses. 22106711

2011
dbSNP: rs80338671
rs80338671
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		G 0.710 CausalMutation CLINVAR Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways. 20655781

2011
dbSNP: rs80338671
rs80338671
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		G 0.710 CausalMutation CLINVAR Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. 9851430

1998
dbSNP: rs80338671
rs80338671
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		G 0.710 CausalMutation CLINVAR The Y329S allele was also detected in another patient with the nonprogressive form of GSD-IV but not in 35 unrelated controls or in patients with the more severe forms of GSD-IV. 8613547

1996
dbSNP: rs80338671
rs80338671
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		C 0.710 GeneticVariation CLINVAR The Y329S allele was also detected in another patient with the nonprogressive form of GSD-IV but not in 35 unrelated controls or in patients with the more severe forms of GSD-IV. 8613547

1996
dbSNP: rs80338671
rs80338671
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		C 0.710 CausalMutation CLINVAR