Gene: GBE1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs192044702
rs192044702
GBE1
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
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: rs80338671
rs80338671
GBE1
0.710 GeneticVariation BEFREE 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: 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: 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: 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
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 Progress and problems in muscle glycogenoses. 22106711

2011
dbSNP: rs201958741
rs201958741
GBE1
T 0.700 GeneticVariation CLINVAR Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. 10762170

2000
dbSNP: rs192044702
rs192044702
GBE1
G 0.700 CausalMutation CLINVAR Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations. 19813197

2010
dbSNP: rs766935302
rs766935302
GBE1
A 0.700 CausalMutation CLINVAR Neuromuscular forms of glycogen branching enzyme deficiency. 17915577

2007
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
0.800 GeneticVariation UNIPROT Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996
dbSNP: rs137852887
rs137852887
GBE1
0.800 GeneticVariation UNIPROT Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996
dbSNP: rs137852889
rs137852889
GBE1
0.800 GeneticVariation UNIPROT Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996
dbSNP: rs137852891
rs137852891
GBE1
0.700 GeneticVariation UNIPROT Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996
dbSNP: rs192044702
rs192044702
GBE1
G 0.700 CausalMutation CLINVAR Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. 20058079

2010
dbSNP: rs886058900
rs886058900
GBE1
C 0.700 GeneticVariation CLINVAR Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. 20058079

2010
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 Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation. 25489661

2017
dbSNP: rs766935302
rs766935302
GBE1
A 0.700 GeneticVariation CLINVAR Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period. 19438752

2009
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: 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