Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Spondyloepimetaphyseal dysplasia, Genevieve type NANS disease C1864872 GermlineCausalMutation 0.7 disgenet
Spondyloepimetaphyseal dysplasia, Genevieve type NANS disease C1864872 GeneticVariation 0.7 disgenet
Spondyloepimetaphyseal dysplasia, Genevieve type NANS disease C1864872 CausalMutation 0.7 disgenet
Spondyloepimetaphyseal dysplasia, Genevieve type NANS disease C1864872 Biomarker 0.7 disgenet
Spondyloepimetaphyseal dysplasia, Genevieve type TRIM14 disease C1864872 CausalMutation 0.1 disgenet
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