Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
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 |
|---|---|---|---|
| 4190 | MDH1 | malate dehydrogenase 1 | |
| 4534 | MTM1 | myotubularin 1 | |
| 4684 | NCAM1 | neural cell adhesion molecule 1 | |
| 4706 | NDUFAB1 | NADH:ubiquinone oxidoreductase subunit AB1 | |
| 5130 | PCYT1A | phosphate cytidylyltransferase 1A, choline | |
| 5236 | PGM1 | phosphoglucomutase 1 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012764 | Orthopnea |
| HP:0100578 | Lipoatrophy |
