This gene was first recognized as a vasculopathy-susceptibility locus in 2011 through the genome-wide linkage analysis of Japanese families with moyamoya disease, which demonstrated that heterozygotes for RNF213 p.Arg4810Lys (c.14429G>A, rs112735431) might be susceptible to moyamoya disease [1]. The gene discussed is RNF213; the disease is vascular disorder.