Additionally, 6 rare mutations have been detected in non HAE patients related to HAE phenotype, ADGRE2 (c.208 G > A, p.Glu70Lys), XPNPEP2 (c.1880 C > T, p.Pro627Leu) and SOX18 (c.919 G > A, p.Glu307Lys), and differential HAE diagnosis, CELSR1 (c.809 A > C, p.His270Pro), VEGFC (c.1062 T > A, p.Asn354Lys) and EPHB4 (c.2711 C > G, p.Pro904Arg) (Supplementary Table S2). The gene discussed is EPHB4; the disease is hereditary angioedema.