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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
dilated cardiomyopathy 1H
Summary
- Synonym
-
- dilated cardiomyopathy with conduction defect
- Definition
- A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22.
- Super Class
- dilated cardiomyopathy monogenic disease
External Links
- Disease Ontology
- DOID:0110429
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 37 | ACADVL | acyl-CoA dehydrogenase very long chain | |
| 155 | ADRB3 | adrenoceptor beta 3 | |
| 622 | BDH1 | 3-hydroxybutyrate dehydrogenase 1 | |
| 1120 | CHKB | choline kinase beta | |
| 1376 | CPT2 | carnitine palmitoyltransferase 2 | |
| 1585 | CYP11B2 | cytochrome P450 family 11 subfamily B member 2 | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2194 | FASN | fatty acid synthase | |
| 2218 | FKTN | fukutin |
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: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 |
