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). This evidence concerns the gene CPS1 and ischemic stroke.