Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Glycogen Storage Disease Type IIb LAMP2 disease C0878677 GermlineCausalMutation 1 disgenet
Glycogen Storage Disease Type IIb LAMP2 disease C0878677 GeneticVariation 1 disgenet
Glycogen Storage Disease Type IIb LAMP2 disease C0878677 CausalMutation 1 disgenet
Glycogen Storage Disease Type IIb LAMP2 disease C0878677 AlteredExpression 1 disgenet
Glycogen Storage Disease Type IIb LAMP2 disease C0878677 Biomarker 1 disgenet
Glycogen Storage Disease Type IIb PRKAG2 disease C0878677 GeneticVariation 0.05 orphanet , disgenet
Glycogen Storage Disease Type IIb PRKAG2 disease C0878677 Biomarker 0.05 orphanet , disgenet
Glycogen Storage Disease Type IIb APRT disease C0878677 GeneticVariation 0.04 disgenet
Glycogen Storage Disease Type IIb APRT disease C0878677 AlteredExpression 0.04 disgenet
Glycogen Storage Disease Type IIb MFAP1 disease C0878677 AlteredExpression 0.04 disgenet
Glycogen Storage Disease Type IIb MFAP1 disease C0878677 GeneticVariation 0.04 disgenet
Glycogen Storage Disease Type IIb LSAMP disease C0878677 Biomarker 0.02 disgenet
Glycogen Storage Disease Type IIb LSAMP disease C0878677 GeneticVariation 0.02 disgenet
Glycogen Storage Disease Type IIb LAMP3 disease C0878677 Biomarker 0.02 disgenet
Glycogen Storage Disease Type IIb LAMP3 disease C0878677 GeneticVariation 0.02 disgenet
Glycogen Storage Disease Type IIb ZBTB33 disease C0878677 GeneticVariation 0.01 disgenet
Glycogen Storage Disease Type IIb CUL4B disease C0878677 GeneticVariation 0.01 disgenet
Glycogen Storage Disease Type IIb VMA21 disease C0878677 GeneticVariation 0.01 disgenet
Glycogen Storage Disease Type IIb PIK3R4 disease C0878677 Biomarker 0.01 disgenet
Glycogen Storage Disease Type IIb TFEB disease C0878677 AlteredExpression 0.01 disgenet
Glycogen Storage Disease Type IIb GYG1 NA C0878677 NA NA orphanet
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