Studies in humans have shown that 85–90% of Autosomal Dominant Polycystic Kidney Disease (ADPKD) (OMIM ID: 173900) is caused by mutations in PKD1 (Entrez Gene ID: 5310), with other cases caused by mutations in PKD2 (Entrez Gene ID: 5311). Here, PKD1 is linked to autosomal dominant polycystic kidney disease.