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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
dilated cardiomyopathy 1I
Summary
- Synonym
-
- CMD1I
- Definition
- A dilated cardiomyopathy that has_material_basis_in mutation in the DES gene on chromosome 2q35.
- Super Class
- dilated cardiomyopathy monogenic disease
External Links
- Disease Ontology
- DOID:0110431
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 37 | ACADVL | acyl-CoA dehydrogenase very long chain | |
| 622 | BDH1 | 3-hydroxybutyrate dehydrogenase 1 | |
| 1120 | CHKB | choline kinase beta | |
| 1376 | CPT2 | carnitine palmitoyltransferase 2 | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2194 | FASN | fatty acid synthase | |
| 2218 | FKTN | fukutin | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 2876 | GPX1 | glutathione peroxidase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13093 | Platelet-activating factor acetylhydrolase | |
| Q14118 | Dystroglycan 1 | |
| Q16836 | Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial | |
| Q29983 | MHC class I polypeptide-related sequence A | |
| Q6ZVN8 | Hemojuvelin | |
| Q9H9S5 | Ribitol 5-phosphate transferase FKRP | |
| Q9UKY4 | Protein O-mannosyl-transferase 2 | |
| Q9Y259 | Choline/ethanolamine kinase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012764 | Orthopnea |
| HP:0100578 | Lipoatrophy |
