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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
dilated cardiomyopathy 1E
Summary
- Synonym
-
- CDCD2
- CMD1E
- dilated cardiomyopathy with conduction defect 2
- dilated cardiomyopathy with conduction disorder and arrhythmia
- Definition
- A dilated cardiomyopathy that has_material_basis_in mutation in the SCN5A gene on chromosome 3p22.2.
- Super Class
- autosomal dominant disease dilated cardiomyopathy
External Links
- Disease Ontology
- DOID:0110433
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13093 | Platelet-activating factor acetylhydrolase | |
| Q14118 | Dystroglycan 1 | |
| Q16836 | Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial | |
| Q29983 | MHC class I polypeptide-related sequence A | |
| Q6ZVN8 | Hemojuvelin | |
| Q9H9S5 | Ribitol 5-phosphate transferase FKRP | |
| Q9UKY4 | Protein O-mannosyl-transferase 2 | |
| Q9Y259 | Choline/ethanolamine kinase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000969 | Edema |
| HP:0001635 | Congestive heart failure |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0001727 | Thromboembolic stroke |
| HP:0002875 | Exertional dyspnea |
| HP:0003198 | Myopathy |
| HP:0003457 | EMG abnormality |
| HP:0011675 | Arrhythmia |
| HP:0012378 | Fatigue |
