| Disease ID | Source | Name | Description |
| 226650 | OMIM | Generalized atrophic benign epidermolysis bullosa (GABEB) | A non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. The disease is caused by variants affecting the gene represented in this entry. |
| 122400 | OMIM | Epithelial recurrent erosion dystrophy (ERED) | A corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood, with occasional impairment of vision. Most patients have attacks of redness, photophobia, epiphora, and ocular pain. Exposure to sunlight or draught, dust and smoke and lack of sleep can precipitate attacks. The disease is caused by variants affecting the gene represented in this entry. |