| Disease ID | Source | Name | Description |
| 614302 | OMIM | Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7) | A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. The disease is caused by variants affecting the gene represented in this entry. |
| 604400 | OMIM | Arrhythmogenic right ventricular dysplasia, familial, 5 (ARVD5) | A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. The disease is caused by variants affecting the gene represented in this entry. |