| Disease ID | Source | Name | Description |
| 219730 | OMIM | Ventriculomegaly with cystic kidney disease (VMCKD) | A severe autosomal recessive developmental disorder manifesting in utero. It is characterized by cerebral ventriculomegaly, echogenic kidneys, microscopic renal tubular cysts and findings of congenital nephrosis. The disease is caused by variants affecting the gene represented in this entry. |
| 616220 | OMIM | Focal segmental glomerulosclerosis 9 (FSGS9) | A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. The disease is caused by variants affecting the gene represented in this entry. |
| 268000 | OMIM | Retinitis pigmentosa (RP) | A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Disease susceptibility may be associated with variants affecting the gene represented in this entry. |