Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Glycogen Storage Disease Type VII PFKM disease C0017926 CausalMutation 0.94 orphanet , disgenet
Glycogen Storage Disease Type VII PFKM disease C0017926 GermlineCausalMutation 0.94 orphanet , disgenet
Glycogen Storage Disease Type VII PFKM disease C0017926 GeneticVariation 0.94 orphanet , disgenet
Glycogen Storage Disease Type VII PFKM disease C0017926 AlteredExpression 0.94 orphanet , disgenet
Glycogen Storage Disease Type VII PFKM disease C0017926 Biomarker 0.94 orphanet , disgenet
Glycogen Storage Disease Type VII HIF1A disease C0017926 Biomarker 0.2 disgenet
Glycogen Storage Disease Type VII AMPD3 disease C0017926 Biomarker 0.01 disgenet
Glycogen Storage Disease Type VII MFAP1 disease C0017926 Biomarker 0.01 disgenet
Glycogen Storage Disease Type VII BRAP disease C0017926 AlteredExpression 0.01 disgenet
Glycogen Storage Disease Type VII IMPA1 disease C0017926 AlteredExpression 0.01 disgenet
Glycogen Storage Disease Type VII GCK disease C0017926 GeneticVariation 0.01 disgenet
Glycogen Storage Disease Type VII APRT disease C0017926 Biomarker 0.01 disgenet
Glycogen Storage Disease Type VII PYGM disease C0017926 GeneticVariation 0.01 disgenet
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