Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Spondyloepiphyseal Dysplasia, Kimberley Type ACAN disease C1842149 Biomarker 0.61 disgenet
Spondyloepiphyseal Dysplasia, Kimberley Type ACAN disease C1842149 GeneticVariation 0.61 disgenet
Spondyloepiphyseal Dysplasia, Kimberley Type ACAN disease C1842149 GermlineCausalMutation 0.61 disgenet
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