| Disease ID | Source | Name | Description |
| 615878 | OMIM | Cholestasis, progressive familial intrahepatic, 4 (PFIC4) | 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. |
| 607748 | OMIM | Familial hypercholanemia (FHCA) | A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry. |