| Disease ID | Source | Name | Description |
| 615225 | OMIM | Palmoplantar carcinoma, multiple self-healing (MSPC) | An autosomal dominant disease characterized by keratopathy with neovascularization, bilateral corneal opacification, palmoplantar hyperkeratosis, dyshidrosis, dystrophic nails, and recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma. The disease is caused by variants affecting the gene represented in this entry. |
| 617388 | OMIM | Autoinflammation with arthritis and dyskeratosis (AIADK) | A disorder characterized by recurrent fever, diffuse skin dyskeratosis, autoinflammation, autoimmunity, arthritis and high transitional B-cell level. Inheritance can be autosomal dominant or autosomal recessive. The disease may be caused by variants affecting the gene represented in this entry. |
| 618803 | OMIM | Respiratory papillomatosis, juvenile recurrent, congenital (JRRP) | An autosomal recessive disease characterized by recurrent growth of papillomas in the respiratory tract, and onset in early childhood. Papillomas are most commonly found in the larynx but may occur anywhere from the mouth to the bronchi. Children typically present within the first years of life with hoarseness or, in more severe cases, respiratory distress or stridor and airway obstruction. JRRP is associated with infection of the upper airway by human papillomaviruses of the alpha genus. The infection is thought to occur by vertical transmission at birth. The disease may be caused by variants affecting the gene represented in this entry. |
| 606579 | OMIM | Vitiligo-associated multiple autoimmune disease 1 (VAMAS1) | A disorder characterized by the association of vitiligo with several autoimmune and autoinflammatory diseases including autoimmune thyroid disease, rheumatoid arthritis and systemic lupus erythematosus. Disease susceptibility is associated with variants affecting the gene represented in this entry. |