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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
dilated cardiomyopathy 1A
Summary
- Synonym
-
- CDCD1
- dilated cardiomyopathy with conduction defect 1
- familial dilated cardiomyopathy with conduction defect due to LMNA mutation
- Definition
- A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.
- Super Class
- autosomal dominant disease dilated cardiomyopathy
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1585 | CYP11B2 | cytochrome P450 family 11 subfamily B member 2 | |
| 1588 | CYP19A1 | cytochrome P450 family 19 subfamily A member 1 | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1629 | DBT | dihydrolipoamide branched chain transacylase E2 | |
| 1632 | ECI1 | enoyl-CoA delta isomerase 1 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2023 | ENO1 | enolase 1 | |
| 2194 | FASN | fatty acid synthase | |
| 2218 | FKTN | fukutin | |
| 2525 | FUT3 | fucosyltransferase 3 (Lewis blood group) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96AD5 | Patatin-like phospholipase domain-containing protein 2 | |
| Q9H9S5 | Ribitol 5-phosphate transferase FKRP | |
| Q9UEF7 | Klotho |
- 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 |
