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). This evidence concerns the gene JAK1 and arteriovenous malformations of the brain.