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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 |
|---|---|---|---|
| 6385 | SDC4 | syndecan 4 | |
| 6389 | SDHA | succinate dehydrogenase complex flavoprotein subunit A | |
| 6390 | SDHB | succinate dehydrogenase complex iron sulfur subunit B | |
| 6484 | ST3GAL4 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | |
| 6517 | SLC2A4 | solute carrier family 2 member 4 | |
| 6523 | SLC5A1 | solute carrier family 5 member 1 | |
| 6783 | SULT1E1 | sulfotransferase family 1E member 1 | |
| 7108 | TM7SF2 | transmembrane 7 superfamily member 2 | |
| 7368 | UGT8 | UDP glycosyltransferase 8 | |
| 7941 | PLA2G7 | phospholipase A2 group VII |
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 |
