| Disease ID | Source | Name | Description |
| 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 is caused by variants affecting the gene represented in this entry. |
| 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. |
| 617757 | OMIM | Joubert syndrome 32 (JBTS32) | A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS32 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |