Among 1173 mutated candidate genes in our dataset, PRKN (23 patients), PAH and TYR (each found in 17 patients), and EYS and TMPRSS3 (each found in 16 patients) had the highest number of P/LP variants (Fig. 2a, b; Supplementary Data 10–11). The gene discussed is EYS; the disease is pulmonary arterial hypertension.