| Disease ID | Source | Name | Description |
| 612644 | OMIM | Deafness, autosomal dominant, 2B (DFNA2B) | A form of non-syndromic sensorineural deafness characterized by progressive high frequency hearing loss in adulthood, with milder expression in females. The disease is caused by variants affecting the gene represented in this entry. |
| 133200 | OMIM | Erythrokeratodermia variabilis et progressiva 1 (EKVP1) | A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. The disease is caused by variants affecting the gene represented in this entry. |