NMNAT1 and spondyloepiphyseal dysplasia: Another example is that spondyloepiphyseal dysplasia (SED) could be arisen from variants in a range of genes, including COL2A1, TRPV4, ACAN, TRAPPC2, CHST3, NMNAT1, MBTPS1, COMP, CCN6, MIR140, and RNU4ATAC, which are documented in Online Mendelian Inheritance in Man (OMIM, https://www.omim.org/).