| Disease ID | Source | Name | Description |
| 618048 | OMIM | Proteasome-associated autoinflammatory syndrome 2 (PRAAS2) | An autosomal dominant autoinflammatory disorder characterized by onset in early infancy and severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency. The disease is caused by variants affecting the gene represented in this entry. |
| 601952 | OMIM | Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) | A keratinizing disorder characterized by ichthyosis, palmoplantar keratoderma with constricting bands around fingers, flexural deformities of fingers and keratotic papules in a linear distribution on the flexural side of large joints. Histological examination of the skin of affected individuals shows hypertrophy and hyperplasia of the spinous, granular and horny epidermal layer. The disease is caused by variants affecting the gene represented in this entry. |