Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Adenylosuccinate lyase deficiency ADSL disease C0268126 Biomarker 0.79 orphanet , disgenet
Adenylosuccinate lyase deficiency ADSL disease C0268126 GeneticVariation 0.79 orphanet , disgenet
Adenylosuccinate lyase deficiency ADSL disease C0268126 GermlineCausalMutation 0.79 orphanet , disgenet
Adenylosuccinate lyase deficiency ADSL disease C0268126 AlteredExpression 0.79 orphanet , disgenet
Adenylosuccinate lyase deficiency ADSL disease C0268126 CausalMutation 0.79 orphanet , disgenet
Adenylosuccinate lyase deficiency ATIC disease C0268126 GeneticVariation 0.01 disgenet
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