| Disease ID | Source | Name | Description |
| 210250 | OMIM | Sitosterolemia 1 (STSL1) | A form of sitosterolemia, an autosomal recessive metabolic disorder characterized by unregulated intestinal absorption of cholesterol, phytosterols and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. Patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease. The disease is caused by variants affecting the gene represented in this entry. |
| 611465 | OMIM | Gallbladder disease 4 (GBD4) | 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. Disease susceptibility may be associated with variants affecting the gene represented in this entry. |