For instance, nine PSGs (AKAP11, ARHGAP35, BMP7, GPC3, NEK1, PMEPA1, ROBO1, RSPO2, SLC26A7) were significantly enriched in phenotype categories including “abnormal kidney collecting duct morphology,” “increased urine osmolality,” “kidney cortex cysts,” “kidney cysts,” “polycystic kidney,” “hydroureter,” and “abnormal kidney development” (Additional file 1: Table s17). The gene discussed is PMEPA1; the disease is Hydroureter.