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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 |
|---|---|---|---|
| 28 | ABO | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | |
| 31 | ACACA | acetyl-CoA carboxylase alpha | |
| 501 | ALDH7A1 | aldehyde dehydrogenase 7 family member A1 | |
| 622 | BDH1 | 3-hydroxybutyrate dehydrogenase 1 | |
| 847 | CAT | catalase | |
| 1116 | CHI3L1 | chitinase 3 like 1 | |
| 1374 | CPT1A | carnitine palmitoyltransferase 1A | |
| 1376 | CPT2 | carnitine palmitoyltransferase 2 | |
| 1544 | CYP1A2 | cytochrome P450 family 1 subfamily A member 2 | |
| 1571 | CYP2E1 | cytochrome P450 family 2 subfamily E member 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:0012764 | Orthopnea |
| HP:0100578 | Lipoatrophy |
