Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
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 A novel mouse model that recapitulates adult-onset glycogenosis type 4. 26385640

2015
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: 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 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 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 Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547

1996