Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Glycogen Storage Disease Type I G6PC disease C0017920 GeneticVariation 0.9 disgenet
Glycogen Storage Disease Type I G6PC disease C0017920 GermlineCausalMutation 0.9 disgenet
Glycogen Storage Disease Type I G6PC disease C0017920 Biomarker 0.9 disgenet
Glycogen Storage Disease Type I G6PC disease C0017920 AlteredExpression 0.9 disgenet
Glycogen Storage Disease Type I SLC37A4 disease C0017920 AlteredExpression 0.57 orphanet , disgenet
Glycogen Storage Disease Type I SLC37A4 disease C0017920 GeneticVariation 0.57 orphanet , disgenet
Glycogen Storage Disease Type I SLC37A4 disease C0017920 Biomarker 0.57 orphanet , disgenet
Glycogen Storage Disease Type I HCC disease C0017920 Biomarker 0.03 disgenet
Glycogen Storage Disease Type I HCA1 disease C0017920 Biomarker 0.03 disgenet
Glycogen Storage Disease Type I GYPE disease C0017920 Biomarker 0.02 disgenet
Glycogen Storage Disease Type I GYPE disease C0017920 GeneticVariation 0.02 disgenet
Glycogen Storage Disease Type I IGF2R disease C0017920 AlteredExpression 0.01 disgenet
Glycogen Storage Disease Type I G6PC3 disease C0017920 Biomarker 0.01 disgenet
Glycogen Storage Disease Type I BTD disease C0017920 AlteredExpression 0.01 disgenet
Glycogen Storage Disease Type I NR1H3 disease C0017920 AlteredExpression 0.01 disgenet
Glycogen Storage Disease Type I SIRT1 disease C0017920 Biomarker 0.01 disgenet
Glycogen Storage Disease Type I PHKA2 disease C0017920 Biomarker 0.01 disgenet
Glycogen Storage Disease Type I APOA4 disease C0017920 Biomarker 0.01 disgenet
Glycogen Storage Disease Type I CSF3 disease C0017920 Biomarker 0.01 disgenet
Glycogen Storage Disease Type I GCK disease C0017920 Biomarker 0.01 disgenet
Glycogen Storage Disease Type I VWF disease C0017920 GeneticVariation 0.01 disgenet
Glycogen Storage Disease Type I MIR130B disease C0017920 Biomarker 0.01 disgenet
Glycogen Storage Disease Type I HNF1A disease C0017920 AlteredExpression 0.01 disgenet
Glycogen Storage Disease Type I LATS1 disease C0017920 GeneticVariation 0.01 disgenet
Glycogen Storage Disease Type I ABCA1 disease C0017920 Biomarker 0.01 disgenet
Glycogen Storage Disease Type I HGF disease C0017920 Biomarker 0.01 disgenet
Glycogen Storage Disease Type I PYGL disease C0017920 GeneticVariation 0.01 disgenet
Glycogen Storage Disease Type I APOB disease C0017920 Biomarker 0.01 disgenet
Glycogen Storage Disease Type I MLXIPL disease C0017920 Biomarker 0.01 disgenet
Glycogen Storage Disease Type I LPL disease C0017920 Biomarker 0.01 disgenet
Glycogen Storage Disease Type I G6PC1 NA C0017920 NA NA orphanet
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