Due to its high expression in endocardial cushions of both the outflow tract and the atrioventricular canal, GATA5 became a candidate gene for congenital heart diseases, more specifically BAV, and mutations in GATA5 have been associated with an increased susceptibility to BAV, but the specific detailed molecular mechanism needs to be further researched. The gene discussed is GATA5; the disease is congenital heart disease.