Gene: GBE1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs886058900
rs886058900
GBE1
C 0.700 GeneticVariation CLINVAR Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family. 25728520

2015
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: rs80338673
rs80338673
GBE1
T 0.700 CausalMutation CLINVAR

dbSNP: rs80338672
rs80338672
GBE1
A 0.700 CausalMutation CLINVAR

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

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
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 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: Natural History and Key Magnetic Resonance Imaging Findings. 23034915

2012
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: rs80338671
rs80338671
GBE1
G 0.710 CausalMutation CLINVAR A novel mouse model that recapitulates adult-onset glycogenosis type 4. 26385640

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
C 0.710 GeneticVariation CLINVAR Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease. 25665141

2015
dbSNP: rs80338671
rs80338671
GBE1
C 0.710 CausalMutation CLINVAR

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: 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 Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design. 26199317

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: 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 Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

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

2007
dbSNP: rs766935302
rs766935302
GBE1
A 0.700 GeneticVariation CLINVAR Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2004
dbSNP: rs763016962
rs763016962
GBE1
A 0.700 CausalMutation CLINVAR