| Disease ID | Source | Name | Description |
| 610984 | OMIM | Complement factor I deficiency (CFI deficiency) | Autosomal recessive condition associated with a propensity to pyogenic infections. The disease is caused by variants affecting the gene represented in this entry. |
| 615439 | OMIM | Macular degeneration, age-related, 13 (ARMD13) | A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. Disease susceptibility is associated with variants affecting the gene represented in this entry. |
| 612923 | OMIM | Hemolytic uremic syndrome atypical 3 (AHUS3) | An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. Disease susceptibility is associated with variants affecting the gene represented in this entry. Other genes may play a role in modifying the phenotype. |