| Disease ID | Source | Name | Description |
| 609254 | OMIM | Senior-Loken syndrome 5 (SLSN5) | A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. The disease is caused by variants affecting the gene represented in this entry. |
| 611755 | OMIM | Leber congenital amaurosis 10 (LCA10) | A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. The gene represented in this entry may be involved in disease pathogenesis. |