Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Cutis Laxa, Autosomal Dominant ELN disease C0268350 GeneticVariation 0.67 orphanet , disgenet
Cutis Laxa, Autosomal Dominant ELN disease C0268350 Biomarker 0.67 orphanet , disgenet
Cutis Laxa, Autosomal Dominant ELN disease C0268350 GermlineCausalMutation 0.67 orphanet , disgenet
Cutis Laxa, Autosomal Dominant ALDH18A1 disease C0268350 Biomarker 0.51 orphanet , disgenet
Cutis Laxa, Autosomal Dominant ALDH18A1 disease C0268350 GermlineCausalMutation 0.51 orphanet , disgenet
Cutis Laxa, Autosomal Dominant ALDH18A1 disease C0268350 GeneticVariation 0.51 orphanet , disgenet
Cutis Laxa, Autosomal Dominant FBLN5 disease C0268350 Biomarker 0.5 orphanet , disgenet
Cutis Laxa, Autosomal Dominant FBLN5 disease C0268350 GermlineCausalMutation 0.5 orphanet , disgenet
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