Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
De Barsy syndrome ALDH18A1 disease C0268354 GermlineCausalMutation 0.7 orphanet , disgenet
De Barsy syndrome ALDH18A1 disease C0268354 CausalMutation 0.7 orphanet , disgenet
De Barsy syndrome ALDH18A1 disease C0268354 GeneticVariation 0.7 orphanet , disgenet
De Barsy syndrome ALDH18A1 disease C0268354 Biomarker 0.7 orphanet , disgenet
De Barsy syndrome PYCR1 disease C0268354 GeneticVariation 0.01 orphanet , disgenet
click here to return to the previous page