We hypothesized that deleterious variants in SOX17 confer PAH-CHD risk through dysregulation of SOX17 target genes and some of these genes may contribute to PAH-CHD risk directly, independent of SOX17. Therefore, we tested for enrichment of rare variants in 1947 putative SOX17 target genes identified by genome-wide ChIP-X experiments [38] in European cases compared to NFE gnomAD WGS subjects. Here, SOX17 is linked to pulmonary arterial hypertension.