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 Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. 9851430

1998
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: 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 Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. 23034915

2012
dbSNP: rs192044702
rs192044702
GBE1
G 0.700 CausalMutation CLINVAR Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. 23034915

2012
dbSNP: rs886058900
rs886058900
GBE1
C 0.700 GeneticVariation CLINVAR Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene. 17994551

2008
dbSNP: rs1057517315
rs1057517315
GBE1
C 0.700 CausalMutation CLINVAR Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation. 21917543

2012
dbSNP: rs201958741
rs201958741
GBE1
T 0.700 GeneticVariation CLINVAR Branching enzyme deficiency: expanding the clinical spectrum. 24248152

2014
dbSNP: rs137852886
rs137852886
GBE1
0.800 GeneticVariation UNIPROT Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2004
dbSNP: rs137852887
rs137852887
GBE1
0.800 GeneticVariation UNIPROT Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2004
dbSNP: rs137852889
rs137852889
GBE1
0.800 GeneticVariation UNIPROT Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2004
dbSNP: rs137852891
rs137852891
GBE1
0.700 GeneticVariation UNIPROT Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2004
dbSNP: rs192044702
rs192044702
GBE1
G 0.700 CausalMutation CLINVAR Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2004
dbSNP: rs766935302
rs766935302
GBE1
A 0.700 CausalMutation CLINVAR Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2004
dbSNP: rs766935302
rs766935302
GBE1
A 0.700 GeneticVariation CLINVAR Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2004
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
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: 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 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: 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: 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