| Disease ID | Source | Name | Description |
| 615248 | OMIM | Cardiomyopathy, dilated 1KK (CMD1KK) | 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. |
| 615248 | OMIM | Cardiomyopathy, dilated 1KK (CMD1KK) | 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. |
| 615248 | OMIM | Cardiomyopathy, dilated 1KK (CMD1KK) | 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. |
| 617336 | OMIM | Nemaline myopathy 11 (NEM11) | An autosomal recessive form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM11 is characterized by slowly progressive muscle weakness and atrophy, mainly affecting the lower limbs and neck. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure. The disease is caused by variants affecting the gene represented in this entry. |