Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
DES
Desmin




2q35
* Desmin-related myopathy - DRM (1.23, 1.53, 5.1, 5.14, 10.121, 10.44)
* Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy - ARVD7 (1.23, 1.53, 5.1, 5.14, 10.121, 10.44)
* Myofibrillar myopathy 1 - MFM1 (1.23, 1.53, 5.1, 5.14, 10.121, 10.44)
* Limb girdle muscular dystrophy 1E (autosomal dominant) - LGMD1E (1.23, 1.53, 5.1, 5.14, 10.121, 10.44)
* Dilated cardiomyopathy, 1I - CMD1I (1.23, 1.53, 5.1, 5.14, 10.121, 10.44)
* Limb-Girdle, Muscular dystrophy, type 2R - LGMD2R (1.23, 1.53, 5.1, 5.14, 10.121, 10.44)