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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 |
|---|---|---|---|
| 2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
| 2876 | GPX1 | glutathione peroxidase 1 | |
| 2878 | GPX3 | glutathione peroxidase 3 | |
| 3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 | |
| 3294 | HSD17B2 | hydroxysteroid 17-beta dehydrogenase 2 | |
| 3417 | IDH1 | isocitrate dehydrogenase (NADP(+)) 1 | |
| 3958 | LGALS3 | galectin 3 | |
| 4065 | LY75 | lymphocyte antigen 75 | |
| 4153 | MBL2 | mannose binding lectin 2 | |
| 4190 | MDH1 | malate dehydrogenase 1 |
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 |
