Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Glycogen Storage Disease Type III AGL disease C0017922 CausalMutation 1 orphanet , disgenet
Glycogen Storage Disease Type III AGL disease C0017922 AlteredExpression 1 orphanet , disgenet
Glycogen Storage Disease Type III AGL disease C0017922 GermlineCausalMutation 1 orphanet , disgenet
Glycogen Storage Disease Type III AGL disease C0017922 Biomarker 1 orphanet , disgenet
Glycogen Storage Disease Type III AGL disease C0017922 GeneticVariation 1 orphanet , disgenet
Glycogen Storage Disease Type III GBE1 disease C0017922 GermlineCausalMutation 0.31 disgenet
Glycogen Storage Disease Type III GBE1 disease C0017922 GeneticVariation 0.31 disgenet
Glycogen Storage Disease Type III G6PC disease C0017922 Biomarker 0.04 disgenet
Glycogen Storage Disease Type III PYGL disease C0017922 GeneticVariation 0.01 disgenet
Glycogen Storage Disease Type III COL6A2 disease C0017922 GeneticVariation 0.01 disgenet
Glycogen Storage Disease Type III OLIG1 disease C0017922 GeneticVariation 0.01 disgenet
Glycogen Storage Disease Type III MADD disease C0017922 GeneticVariation 0.01 disgenet
Glycogen Storage Disease Type III GYS2 disease C0017922 AlteredExpression 0.01 disgenet
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