Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hyperlysinemias AASS disease C0268553 GeneticVariation 0.72 orphanet , disgenet
Hyperlysinemias AASS disease C0268553 GermlineCausalMutation 0.72 orphanet , disgenet
Hyperlysinemias AASS disease C0268553 Biomarker 0.72 orphanet , disgenet
Hyperlysinemias NADK2 disease C0268553 GeneticVariation 0.12 disgenet
Hyperlysinemias NADK2 disease C0268553 Biomarker 0.12 disgenet
Hyperlysinemias SLC25A13 disease C0268553 Biomarker 0.1 disgenet
Hyperlysinemias PC disease C0268553 Biomarker 0.01 disgenet
Hyperlysinemias DECR1 disease C0268553 GeneticVariation 0.01 disgenet
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