Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Glycogen Storage Disease Type IV GBE1 disease C0017923 CausalMutation 1 orphanet , disgenet
Glycogen Storage Disease Type IV GBE1 disease C0017923 Biomarker 1 orphanet , disgenet
Glycogen Storage Disease Type IV GBE1 disease C0017923 AlteredExpression 1 orphanet , disgenet
Glycogen Storage Disease Type IV GBE1 disease C0017923 GeneticVariation 1 orphanet , disgenet
Glycogen Storage Disease Type IV RBCK1 disease C0017923 CausalMutation 0.13 orphanet , disgenet
Glycogen Storage Disease Type IV RBCK1 disease C0017923 GeneticVariation 0.13 orphanet , disgenet
Glycogen Storage Disease Type IV RBCK1 disease C0017923 Biomarker 0.13 orphanet , disgenet
Glycogen Storage Disease Type IV G6PC disease C0017923 Biomarker 0.01 disgenet
Glycogen Storage Disease Type IV KCNJ3 disease C0017923 AlteredExpression 0.01 disgenet
Glycogen Storage Disease Type IV GAA disease C0017923 Biomarker 0.01 disgenet
Glycogen Storage Disease Type IV SEMA6A disease C0017923 AlteredExpression 0.01 disgenet
Glycogen Storage Disease Type IV KCNJ6 disease C0017923 AlteredExpression 0.01 disgenet
Glycogen Storage Disease Type IV RNF31 disease C0017923 GeneticVariation 0.01 orphanet , disgenet
Glycogen Storage Disease Type IV COL1A2 disease C0017923 GeneticVariation 0.01 disgenet
Glycogen Storage Disease Type IV KCNJ12 disease C0017923 AlteredExpression 0.01 disgenet
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