| Disease ID | Source | Name | Description |
| 155255 | OMIM | Medulloblastoma (MDB) | Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. The disease is caused by variants affecting the gene represented in this entry. |
| 605462 | OMIM | Basal cell carcinoma (BCC) | A common malignant skin neoplasm that typically appears on hair-bearing skin, most commonly on sun-exposed areas. BCC is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter. The disease is caused by variants affecting the gene represented in this entry. |
| 109400 | OMIM | Basal cell nevus syndrome (BCNS) | An autosomal dominant disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like basal cell carcinomas, fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. The disease may be caused by variants affecting the gene represented in this entry. |