Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs766935302
rs766935302
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		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
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		A 0.700 CausalMutation CLINVAR Neuromuscular forms of glycogen branching enzyme deficiency. 17915577

2007
dbSNP: rs766935302
rs766935302
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		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
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		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
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		A 0.700 CausalMutation CLINVAR Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2004
dbSNP: rs766935302
rs766935302
GBE1
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		A 0.700 GeneticVariation CLINVAR Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297

2004