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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 |
|---|---|---|---|
| 3030 | HADHA | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | |
| 3032 | HADHB | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | |
| 3033 | HADH | hydroxyacyl-CoA dehydrogenase | |
| 3155 | HMGCL | 3-hydroxy-3-methylglutaryl-CoA lyase | |
| 3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 | |
| 3939 | LDHA | lactate dehydrogenase A | |
| 3958 | LGALS3 | galectin 3 | |
| 4023 | LPL | lipoprotein lipase | |
| 4190 | MDH1 | malate dehydrogenase 1 | |
| 4534 | MTM1 | myotubularin 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 |
| 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 |
