We then explored HGMD for pathogenic mutations within candidate genes and found that 11 genes harbor “DM” (disease-causing) variants in various diseases (EPS15 in congenital heart disease, IFNAR1 and JAK1 in immunodeficiency, IL10RA and TRIM22 in IBD, IL6ST in hyper-IgE syndrome, LRRK2 in PD, NOD2 in CD, PIKFYVE in corneal dystrophy, ULK2 in neurodevelopmental disorder and ZFYVE16 in brain arteriovenous malformation). The gene discussed is JAK1; the disease is corneal dystrophy.