Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Dicarboxylicaminoaciduria SLC1A1 disease C1857253 Biomarker 0.91 orphanet , disgenet
Dicarboxylicaminoaciduria SLC1A1 disease C1857253 GermlineCausalMutation 0.91 orphanet , disgenet
Dicarboxylicaminoaciduria SLC1A1 disease C1857253 CausalMutation 0.91 orphanet , disgenet
Dicarboxylicaminoaciduria SLC1A1 disease C1857253 GeneticVariation 0.91 orphanet , disgenet
Dicarboxylicaminoaciduria SPATA6L disease C1857253 CausalMutation 0.1 disgenet
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