| Disease ID | Source | Name | Description |
| 158810 | OMIM | Bethlem myopathy 1 (BTHLM1) | A benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles. The disease is caused by variants affecting the gene represented in this entry. |
| 255600 | OMIM | Myosclerosis autosomal recessive (MYOSAR) | A condition characterized by chronic inflammation of skeletal muscle with hyperplasia of the interstitial connective tissue. The clinical picture includes slender muscles with firm 'woody' consistency and restriction of movement of many joints because of muscle contractures. The disease is caused by variants affecting the gene represented in this entry. |
| 254090 | OMIM | Ullrich congenital muscular dystrophy 1 (UCMD1) | A congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy. The disease is caused by variants affecting the gene represented in this entry. |