| Disease ID | Source | Name | Description |
| 616118 | OMIM | Macular degeneration, early-onset (EOMD) | An ocular disorder characterized by macular changes resulting in progressive loss of visual acuity. The disease is caused by variants affecting the gene represented in this entry. |
| 121050 | OMIM | Contractural arachnodactyly, congenital (CCA) | An autosomal dominant connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears. The disease is caused by variants affecting the gene represented in this entry. |