Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Spondyloenchondrodysplasia ACP5 disease C0432222 Biomarker 0.57 orphanet , disgenet
Spondyloenchondrodysplasia ACP5 disease C0432222 GermlineCausalMutation 0.57 orphanet , disgenet
Spondyloenchondrodysplasia ACP5 disease C0432222 GeneticVariation 0.57 orphanet , disgenet
Spondyloenchondrodysplasia GH1 disease C0432222 Biomarker 0.01 disgenet
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