Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Glycogen Storage Disease Type Ix PHKB disease C0268147 GeneticVariation 0.12 disgenet
Glycogen Storage Disease Type Ix PHKA2 disease C0268147 GeneticVariation 0.1 orphanet , disgenet
Glycogen Storage Disease Type Ix PHKA2 disease C0268147 AlteredExpression 0.1 orphanet , disgenet
Glycogen Storage Disease Type Ix PHKA2 disease C0268147 Biomarker 0.1 orphanet , disgenet
Glycogen Storage Disease Type Ix PHKG2 disease C0268147 GeneticVariation 0.04 orphanet , disgenet
Glycogen Storage Disease Type Ix PHKA1 disease C0268147 GeneticVariation 0.03 disgenet
Glycogen Storage Disease Type Ix G6PC disease C0268147 Biomarker 0.02 disgenet
Glycogen Storage Disease Type Ix G6PC disease C0268147 GeneticVariation 0.02 disgenet
Glycogen Storage Disease Type Ix APRT disease C0268147 GeneticVariation 0.02 disgenet
Glycogen Storage Disease Type Ix MFAP1 disease C0268147 GeneticVariation 0.02 disgenet
Glycogen Storage Disease Type Ix PRKAG2 disease C0268147 GeneticVariation 0.01 disgenet
Glycogen Storage Disease Type Ix GPT disease C0268147 GeneticVariation 0.01 disgenet
Glycogen Storage Disease Type Ix BTD disease C0268147 AlteredExpression 0.01 disgenet
Glycogen Storage Disease Type Ix XIC disease C0268147 GeneticVariation 0.01 disgenet
Glycogen Storage Disease Type Ix COX8A disease C0268147 Biomarker 0.01 disgenet
Glycogen Storage Disease Type Ix PYGL disease C0268147 Biomarker 0.01 disgenet
Glycogen Storage Disease Type Ix CALM3 disease C0268147 AlteredExpression 0.01 disgenet
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