Further, it should be noted that most OMIM genes in our dataset were associated with risk phenotypes, rather than Mendelian diseases: BTNL2, CARD14, TLR5 and ARMS2 were associated with susceptibility to sarcoidosis, psoriasis or legionnaire disease and late onset macular degeneration, respectively; RNF212 was associated with a non-risk phenotype, variation in recombination rate (Supplementary Material, Table S1). The gene discussed is RNF212; the disease is hereditary disease.