| Disease ID | Source | Name | Description |
| 269840 | OMIM | Immunodeficiency 48 (IMD48) | A form of severe immunodeficiency characterized by a selective absence of CD8+ T-cells. The disease is caused by variants affecting the gene represented in this entry. |
| 617006 | OMIM | Autoimmune disease, multisystem, infantile-onset, 2 (ADMIO2) | An autosomal recessive, autoimmune disorder characterized by systemic manifestations including blistering skin disease, uncontrollable bullous pemphigoid, inflammatory colitis, autoimmune hypothyroidism, proteinuria and nephrotic syndrome. The disease is caused by variants affecting the gene represented in this entry. |