CPS1 and hyperinsulinemic hypoglycemia, familial, 4: By contrast, stronger enrichment of disease risk across pathogenic variants was observed for carbamoylphosphate synthase I (CPS1) deficiency (OMIM 237300) and cystic fibrosis for which 23% and 10% of all disease-associated variants accounted for 70% and 78% of disease, respectively.