We found 20 (e.g., AP000304.12, ATP5O, MRPS6), 362 (e.g., ZFAND1, CHMP4C, SNX16), 440 (e.g., C10orf88, PSTK, TEX36), 30 (e.g., EFNA5, VAV3, SLC25A24) and 229 (e.g., BCHE, ZBBX, OR6S1) mapped genes for the five associated disease clusters, which were then associated with several enrichment biologic pathways topped by GO:0098660 inorganic ion transmembrane transport, WP5224 2q37 copy number variation syndrome, GO:0048545 response to steroid hormone, M5884 NABA CORE MATRISOME, and GO:0097484 dendrite extension, respectively. The gene discussed is PSTK; the disease is copy number variation.