Amongst others, these variants have been linked to chronic kidney disease (NAT8, CPS1, SLC6A13, and SLC7A9), pulmonary hypertension (CPS1), ischemic stroke (XYLB), Iminoglycinuria (SLC6A20), heart rate variability (AGXT2), Hawkinsuria (HPD), and pharmacogenomically relevant acetylation phenotypes (NAT2) (Table 3). The gene discussed is CPS1; the disease is chronic kidney disease.