By harnessing data from observational studies done worldwide, we have shown that in patients with idiopathic, familial, and anorexigen-associated PAH, the presence of a mutation in the BMPR2 gene is associated with an increased risk of death or lung transplantation and all-cause mortality, particularly in those diagnosed at a younger age. The gene discussed is BMPR2; the disease is pulmonary arterial hypertension.