rs137852887, GBE1

N. diseases: 2
Disease: Glycogen Storage Disease Type IV ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glycogen Storage Disease Type IV
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
0.800 GeneticVariation UNIPROT Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). 15452297 2004
Glycogen Storage Disease Type IV
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
0.800 GeneticVariation UNIPROT A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. 10545044 1999
Glycogen Storage Disease Type IV
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
0.800 GeneticVariation UNIPROT Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. 8613547 1996
Glycogen Storage Disease Type IV
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
0.800 CausalMutation CLINVAR