Gene: GBE1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs137852888
rs137852888
GBE1
A 0.710 CausalMutation CLINVAR

dbSNP: rs80338671
rs80338671
GBE1
C 0.710 CausalMutation CLINVAR

dbSNP: rs137852890
rs137852890
GBE1
A 0.700 CausalMutation CLINVAR

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

dbSNP: rs397515343
rs397515343
GBE1
T 0.700 CausalMutation CLINVAR

dbSNP: rs397515344
rs397515344
GBE1
G 0.700 CausalMutation CLINVAR

dbSNP: rs763016962
rs763016962
GBE1
A 0.700 CausalMutation CLINVAR

dbSNP: rs80338672
rs80338672
GBE1
A 0.700 CausalMutation CLINVAR

dbSNP: rs80338673
rs80338673
GBE1
T 0.700 CausalMutation CLINVAR

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

2015
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: 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