Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Spondyloepimetaphyseal dysplasia with multiple dislocations KIF22 disease C1863732 CausalMutation 0.73 orphanet , disgenet
Spondyloepimetaphyseal dysplasia with multiple dislocations KIF22 disease C1863732 GermlineCausalMutation 0.73 orphanet , disgenet
Spondyloepimetaphyseal dysplasia with multiple dislocations KIF22 disease C1863732 Biomarker 0.73 orphanet , disgenet
Spondyloepimetaphyseal dysplasia with multiple dislocations KIF22 disease C1863732 GeneticVariation 0.73 orphanet , disgenet
Spondyloepimetaphyseal dysplasia with multiple dislocations NIN disease C1863732 GeneticVariation 0.01 disgenet
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