Table 2.

Subjects with multiple URDVs in candidate genes classified with one or more ontological groups.

Note: EA—European American subjects, MA—Mexican American subjects. URDV—ultra-rare deleterious single nucleotide variant defined in Materials and Method section. Gene name—is the symbol of gene recommended by the Human Genome Organization Gene Nomenclature Committee (HGNC). Gene assigned into cilium, WNT-signaling, extracellular matrix (ECM), cytoskeleton and cell migration was described in Materials and Methods, and Supplementary Table 3. C-Score—Combined Annotation Dependent Depletion (CADD) score is a broadly applicable metric that objectively weights and integrates diverse information that integrates multiple functional annotations into one metric by contrasting variants that survived natural selection with simulated mutations.