| Disease ID | Source | Name | Description |
| 230740 | OMIM | GAPO syndrome (GAPOS) | An autosomal recessive disease characterized by growth retardation, alopecia, failure of tooth eruption, and progressive optic atrophy in some patients. The disease is caused by variants affecting the gene represented in this entry. |
| 602089 | OMIM | Hemangioma, capillary infantile (HCI) | A condition characterized by dull red, firm, dome-shaped hemangiomas, sharply demarcated from surrounding skin, usually presenting at birth or occurring within the first two or three months of life. They result from highly proliferative, localized growth of capillary endothelium and generally undergo regression and involution without scarring. Disease susceptibility is associated with variants affecting the gene represented in this entry. |