Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Spondyloepiphyseal dysplasia, congenita COL2A1 disease C2745959 GeneticVariation 1 orphanet , disgenet
Spondyloepiphyseal dysplasia, congenita COL2A1 disease C2745959 CausalMutation 1 orphanet , disgenet
Spondyloepiphyseal dysplasia, congenita COL2A1 disease C2745959 Biomarker 1 orphanet , disgenet
Spondyloepiphyseal dysplasia, congenita COL2A1 disease C2745959 GermlineCausalMutation 1 orphanet , disgenet
Spondyloepiphyseal dysplasia, congenita CCN6 disease C2745959 Biomarker 0.21 disgenet
Spondyloepiphyseal dysplasia, congenita CCN6 disease C2745959 GeneticVariation 0.21 disgenet
Spondyloepiphyseal dysplasia, congenita HSPG2 disease C2745959 Biomarker 0.2 disgenet
Spondyloepiphyseal dysplasia, congenita HAPLN1 disease C2745959 Biomarker 0.2 disgenet
Spondyloepiphyseal dysplasia, congenita CHST3 disease C2745959 CausalMutation 0.12 disgenet
Spondyloepiphyseal dysplasia, congenita CHST3 disease C2745959 GeneticVariation 0.12 disgenet
Spondyloepiphyseal dysplasia, congenita TRAPPC2 disease C2745959 CausalMutation 0.1 disgenet
Spondyloepiphyseal dysplasia, congenita ACAN disease C2745959 Biomarker 0.02 orphanet , disgenet
Spondyloepiphyseal dysplasia, congenita ACAN disease C2745959 GeneticVariation 0.02 orphanet , disgenet
Spondyloepiphyseal dysplasia, congenita GLB1 disease C2745959 GeneticVariation 0.01 disgenet
Spondyloepiphyseal dysplasia, congenita CD38 disease C2745959 Biomarker 0.01 disgenet
Spondyloepiphyseal dysplasia, congenita CANT1 disease C2745959 GeneticVariation 0.01 disgenet
Spondyloepiphyseal dysplasia, congenita ZAP70 disease C2745959 GeneticVariation 0.01 disgenet
Spondyloepiphyseal dysplasia, congenita SULT2A1 disease C2745959 GeneticVariation 0.01 disgenet
Spondyloepiphyseal dysplasia, congenita SMARCAL1 disease C2745959 GeneticVariation 0.01 disgenet
Spondyloepiphyseal dysplasia, congenita COMP disease C2745959 GeneticVariation 0.01 disgenet
Spondyloepiphyseal dysplasia, congenita TRPV4 disease C2745959 GeneticVariation 0.01 orphanet , disgenet
Spondyloepiphyseal dysplasia, congenita MIR140 NA C2745959 NA NA orphanet
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