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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 |
|---|---|---|---|
| 8809 | IL18R1 | interleukin 18 receptor 1 | |
| 8972 | MGAM | maltase-glucoamylase | |
| 9173 | IL1RL1 | interleukin 1 receptor like 1 | |
| 9365 | KL | klotho | |
| 10135 | NAMPT | nicotinamide phosphoribosyltransferase | |
| 10159 | ATP6AP2 | ATPase H+ transporting accessory protein 2 | |
| 22845 | DOLK | dolichol kinase | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 55959 | SULF2 | sulfatase 2 | |
| 57104 | PNPLA2 | patatin like phospholipase domain containing 2 |
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 |
