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dilated cardiomyopathy 1S
Summary
- Synonym
-
- CMD1S
- Definition
- A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12.
- Super Class
- autosomal dominant disease dilated cardiomyopathy
External Links
- Disease Ontology
- DOID:0110454
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 17879 | Myh1 | myosin, heavy polypeptide 1, skeletal muscle, adult | |
| 17882 | Myh2 | myosin, heavy polypeptide 2, skeletal muscle, adult | |
| 17883 | Myh3 | myosin, heavy polypeptide 3, skeletal muscle, embryonic | |
| 17884 | Myh4 | myosin, heavy polypeptide 4, skeletal muscle | |
| 17888 | Myh6 | myosin, heavy polypeptide 6, cardiac muscle, alpha | |
| 140781 | Myh7 | myosin, heavy polypeptide 7, cardiac muscle, beta | |
| 544791 | Myh13 | myosin, heavy polypeptide 13, skeletal muscle | |
| 668940 | Myh7b | myosin, heavy chain 7B, cardiac muscle, beta |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001644 | Dilated cardiomyopathy |
| HP:0003457 | EMG abnormality |
| HP:0000969 | Edema |
| HP:0012378 | Fatigue |
| HP:0002875 | Exertional dyspnea |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0011675 | Arrhythmia |
| HP:0001727 | Thromboembolic stroke |
| HP:0012764 | Orthopnea |
| HP:0001635 | Congestive heart failure |
