| Disease ID | Source | Name | Description |
| 602347 | OMIM | Cholestasis, progressive familial intrahepatic, 3 (PFIC3) | A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. The disease is caused by variants affecting the gene represented in this entry. |
| 600803 | OMIM | Gallbladder disease 1 (GBD1) | One of the major digestive diseases. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones, however, remain asymptomatic through their lifetimes. The disease is caused by variants affecting the gene represented in this entry. |
| 614972 | OMIM | Cholestasis of pregnancy, intrahepatic 3 (ICP3) | A liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. It causes fetal distress, spontaneous premature delivery and intrauterine death. Patients have spontaneous and progressive disappearance of cholestasis after delivery. Cholestasis results from abnormal biliary transport from the liver into the small intestine. The disease is caused by variants affecting the gene represented in this entry. |