| Disease ID | Source | Name | Description |
| 192600 | OMIM | Cardiomyopathy, familial hypertrophic 1 (CMH1) | A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. The disease is caused by variants affecting the gene represented in this entry. |
| 608358 | OMIM | Myopathy, myosin storage, autosomal dominant (MSMA) | A rare congenital myopathy characterized by subsarcolemmal hyalinized bodies in type 1 muscle fibers. The disease is caused by variants affecting the gene represented in this entry. |
| 160500 | OMIM | Myopathy, distal, 1 (MPD1) | A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease. The disease is caused by variants affecting the gene represented in this entry. |
| 181430 | OMIM | Scapuloperoneal myopathy MYH7-related (SPMM) | Progressive muscular atrophia beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm. The disease is caused by variants affecting the gene represented in this entry. |
| 613426 | OMIM | Cardiomyopathy, dilated 1S (CMD1S) | A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry. |
| 613426 | OMIM | Cardiomyopathy, dilated 1S (CMD1S) | A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. |
| 255160 | OMIM | Myopathy, myosin storage, autosomal recessive (MSMB) | An autosomal recessive form of myosin storage myopathy, a muscle disease characterized by subsarcolemmal accumulation of hyalinized bodies in type 1 muscle fibers. MSMB clinical features include muscle weakness, type II respiratory failure and cardiac failure, due to hypertrophic cardiomyopathy. The disease is caused by variants affecting the gene represented in this entry. |