Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Sarcosinemia SARDH phenotype C0268563 GermlineCausalMutation 0.73 orphanet , disgenet
Sarcosinemia SARDH phenotype C0268563 Biomarker 0.73 orphanet , disgenet
Sarcosinemia SARDH phenotype C0268563 GeneticVariation 0.73 orphanet , disgenet
Sarcosinemia SDHB phenotype C0268563 GeneticVariation 0.01 disgenet
Sarcosinemia SORD phenotype C0268563 GeneticVariation 0.01 disgenet
Sarcosinemia SDS phenotype C0268563 GeneticVariation 0.01 disgenet
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