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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
dilated cardiomyopathy 1GG
Summary
- Synonym
-
- CMD1GG
- Definition
- A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33.
- Super Class
- dilated cardiomyopathy monogenic disease
External Links
- Disease Ontology
- DOID:0110435
- Mondo Disease Ontology
- OMIM
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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012764 | Orthopnea |
| HP:0100578 | Lipoatrophy |
| HP:0002098 | Respiratory distress |
| HP:0008314 | Decreased activity of mitochondrial complex II |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003593 | Infantile onset |
| HP:0012664 | Reduced left ventricular ejection fraction |
