Gene: GBE1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852887
rs137852887
GBE1
0.800 GeneticVariation UNIPROT A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. 10545044

1999
dbSNP: rs137852889
rs137852889
GBE1
0.800 GeneticVariation UNIPROT A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. 10545044

1999
dbSNP: rs137852891
rs137852891
GBE1
0.700 GeneticVariation UNIPROT A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. 10545044

1999
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: rs1057517315
rs1057517315
GBE1
C 0.700 CausalMutation CLINVAR A neonatal form of glycogen storage disease type IV. 12913206

2003
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: rs766935302
rs766935302
GBE1
A 0.700 CausalMutation CLINVAR "Neonatal type IV glycogen storage disease associated with ""null"" mutations in glycogen branching enzyme 1." 15520786

2004
dbSNP: rs766935302
rs766935302
GBE1
A 0.700 GeneticVariation CLINVAR "Neonatal type IV glycogen storage disease associated with ""null"" mutations in glycogen branching enzyme 1." 15520786

2004
dbSNP: rs766935302
rs766935302
GBE1
A 0.700 CausalMutation CLINVAR Neuromuscular forms of glycogen branching enzyme deficiency. 17915577

2007
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: 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 Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations. 19813197

2010
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: 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: 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: rs80338671
rs80338671
GBE1
G 0.710 CausalMutation CLINVAR Progress and problems in muscle glycogenoses. 22106711

2011
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