| Disease ID | Source | Name | Description |
| 606367 | OMIM | Immunodeficiency 41 with lymphoproliferation and autoimmunity (IMD41) | A disorder of immune dysregulation characterized by recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features, such as autoimmune enteropathy and eczematous skin lesions. The disease is caused by variants affecting the gene represented in this entry. |
| 601942 | OMIM | Diabetes mellitus, insulin-dependent, 10 (IDDM10) | A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. Disease susceptibility is associated with variants affecting the gene represented in this entry. |