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Understanding the effects of genetic variation on the phenotype of an individual is a major goal of biomedical research, especially for the development of diagnostics and effective therapeutic solutions. In this work, we describe the use of a recent knowledge discovery from database (KDD) approach using inductive logic programming (ILP) to automatically extract knowledge about human monogenic diseases. We extracted background knowledge from MSV3d, a database of all human missense variantsdoi:10.4137/bbi.s11184 pmid:23589683 pmcid:PMC3615990 fatcat:tp7dx3s5ybdnrnptlkhwl6lula