ADPKD is primarily caused by mutations in the polycystic kidney disease genes 1 or 2 (PKD1 or PKD2), and less commonly by variants in other genes such as glucosidase II alpha subunit (GANAB), which have been associated with milder renal phenotypes and concurrent polycystic liver disease. This evidence concerns the gene PKD1 and autosomal dominant polycystic kidney disease.