Whole-exome sequencing (WES) on achalasia patients and controls revealed an association between the disease and common missense variants rs1705003 (CUTA) and rs1126511 (HLA-DPB1), and three rare variants (CREB5, ESYT3, and LPIN1) in an independent cohort [40]. The gene discussed is CREB5; the disease is Achalasia.