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). Here, NAT8 is linked to pulmonary arterial hypertension.