Gene: GBE1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852886
rs137852886
GBE1
G 0.800 GeneticVariation CLINVAR Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease. 25665141

2015
dbSNP: rs137852886
rs137852886
GBE1
G 0.800 GeneticVariation CLINVAR Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996
dbSNP: rs137852886
rs137852886
GBE1
G 0.800 CausalMutation CLINVAR

dbSNP: rs137852887
rs137852887
GBE1
T 0.800 CausalMutation CLINVAR

dbSNP: rs137852889
rs137852889
GBE1
C 0.800 CausalMutation CLINVAR

dbSNP: rs80338671
rs80338671
GBE1
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
G 0.710 CausalMutation CLINVAR A novel mouse model that recapitulates adult-onset glycogenosis type 4. 26385640

2015
dbSNP: rs80338671
rs80338671
GBE1
C 0.710 GeneticVariation CLINVAR Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease. 25665141

2015
dbSNP: rs80338671
rs80338671
GBE1
G 0.710 CausalMutation CLINVAR Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease. 25665141

2015
dbSNP: rs80338671
rs80338671
GBE1
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
G 0.710 CausalMutation CLINVAR Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. 23034915

2012
dbSNP: rs80338671
rs80338671
GBE1
C 0.710 GeneticVariation CLINVAR Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. 23034915

2012
dbSNP: rs80338671
rs80338671
GBE1
G 0.710 CausalMutation CLINVAR Progress and problems in muscle glycogenoses. 22106711

2011
dbSNP: rs80338671
rs80338671
GBE1
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
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
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
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: rs137852888
rs137852888
GBE1
A 0.710 CausalMutation CLINVAR

dbSNP: rs80338671
rs80338671
GBE1
C 0.710 CausalMutation CLINVAR

dbSNP: rs192044702
rs192044702
GBE1
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
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
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
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: rs886058900
rs886058900
GBE1
C 0.700 GeneticVariation CLINVAR Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family. 25728520

2015
dbSNP: rs201958741
rs201958741
GBE1
T 0.700 GeneticVariation CLINVAR Branching enzyme deficiency: expanding the clinical spectrum. 24248152

2014