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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
dilated cardiomyopathy 1V
Summary
- Synonym
-
- CMD1V
- Definition
- A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN2 gene on chromosome 1q31-q42.
- Super Class
- autosomal dominant disease dilated cardiomyopathy
External Links
- Disease Ontology
- DOID:0110427
- 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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012764 | Orthopnea |
| HP:0100578 | Lipoatrophy |
