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 Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation. 21917543

2012
dbSNP: rs1057517315
rs1057517315
GBE1
C 0.700 CausalMutation CLINVAR A neonatal form of glycogen storage disease type IV. 12913206

2003
dbSNP: rs137852887
rs137852887
GBE1
T 0.700 CausalMutation CLINVAR

dbSNP: rs137852888
rs137852888
GBE1
A 0.700 CausalMutation CLINVAR

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: 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 Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations. 23218673

2013
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 Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. 9851430

1998
dbSNP: rs192044702
rs192044702
GBE1
G 0.700 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 Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2004
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: rs201958741
rs201958741
GBE1
T 0.700 GeneticVariation CLINVAR Branching enzyme deficiency: expanding the clinical spectrum. 24248152

2014
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 "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: rs80338671
rs80338671
GBE1
C 0.700 GeneticVariation CLINVAR Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease. 25665141

2015
dbSNP: rs80338671
rs80338671
GBE1
C 0.700 GeneticVariation CLINVAR Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings. 23034915

2012
dbSNP: rs80338671
rs80338671
GBE1
G 0.700 CausalMutation CLINVAR Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996
dbSNP: rs80338671
rs80338671
GBE1
G 0.700 CausalMutation CLINVAR Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design. 26199317

2015
dbSNP: rs80338671
rs80338671
GBE1
G 0.700 CausalMutation CLINVAR Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways. 20655781

2011
dbSNP: rs80338671
rs80338671
GBE1
G 0.700 CausalMutation CLINVAR A novel mouse model that recapitulates adult-onset glycogenosis type 4. 26385640

2015
dbSNP: rs80338671
rs80338671
GBE1
C 0.700 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: rs80338671
rs80338671
GBE1
C 0.700 GeneticVariation CLINVAR Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design. 26199317

2015
dbSNP: rs80338672
rs80338672
GBE1
A 0.700 CausalMutation CLINVAR