We used a binomial test to assess the significance in 17,701 genes and found SOX17 to be associated with PAH-CHD with genome-wide significance (5/143, 3.3% of cases vs 5/7509, 0.07% of controls; enrichment rate = 52, p value = 5.5e−07) (Fig. 1). Here, SOX17 is linked to pulmonary arterial hypertension.