Gene: GBE1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517315
rs1057517315
GBE1
C 0.700 CausalMutation CLINVAR A neonatal form of glycogen storage disease type IV. 12913206

2003
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: rs137852886
rs137852886
GBE1
G 0.800 CausalMutation CLINVAR

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

2004
dbSNP: rs137852886
rs137852886
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: 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
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: rs137852887
rs137852887
GBE1
T 0.800 CausalMutation CLINVAR

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

2004
dbSNP: rs137852888
rs137852888
GBE1
A 0.710 CausalMutation CLINVAR

dbSNP: rs137852888
rs137852888
GBE1
0.710 GeneticVariation BEFREE Additional molecular genetic analyses confirmed glycogen storage disease Type IV with the finding of compound heterozygosity for 2 mutations (c.691+2T>C and c.1570C>T, p.R524X) in the GBE1 gene. 26166723

2016
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: rs137852889
rs137852889
GBE1
C 0.800 CausalMutation CLINVAR

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

2004
dbSNP: rs137852890
rs137852890
GBE1
A 0.700 CausalMutation CLINVAR

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

2004
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: rs137852894
rs137852894
GBE1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553690406
rs1553690406
GBE1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1559637815
rs1559637815
GBE1
T 0.700 GeneticVariation CLINVAR