Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Glycogen Storage Disease IB SLC37A4 disease C0268146 AlteredExpression 0.8 orphanet , disgenet
Glycogen Storage Disease IB SLC37A4 disease C0268146 CausalMutation 0.8 orphanet , disgenet
Glycogen Storage Disease IB SLC37A4 disease C0268146 GeneticVariation 0.8 orphanet , disgenet
Glycogen Storage Disease IB SLC37A4 disease C0268146 Biomarker 0.8 orphanet , disgenet
Glycogen Storage Disease IB SLC37A4 disease C0268146 GermlineCausalMutation 0.8 orphanet , disgenet
Glycogen Storage Disease IB RMRP disease C0268146 Biomarker 0.3 disgenet
Glycogen Storage Disease IB G6PC disease C0268146 AlteredExpression 0.1 disgenet
Glycogen Storage Disease IB G6PC disease C0268146 GeneticVariation 0.1 disgenet
Glycogen Storage Disease IB G6PC disease C0268146 Biomarker 0.1 disgenet
Glycogen Storage Disease IB TRAPPC4 disease C0268146 CausalMutation 0.1 disgenet
Glycogen Storage Disease IB TRAPPC4 disease C0268146 GeneticVariation 0.1 disgenet
Glycogen Storage Disease IB CSF3 disease C0268146 Biomarker 0.02 disgenet
Glycogen Storage Disease IB G6PC3 disease C0268146 Biomarker 0.02 disgenet
Glycogen Storage Disease IB CSF3 disease C0268146 GeneticVariation 0.02 disgenet
Glycogen Storage Disease IB DECR1 disease C0268146 Biomarker 0.01 disgenet
Glycogen Storage Disease IB ALB disease C0268146 Biomarker 0.01 disgenet
Glycogen Storage Disease IB HIF1A disease C0268146 AlteredExpression 0.01 disgenet
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