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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
hypertrophic cardiomyopathy 1
Summary
- Synonym
-
- CMH1
- cardiomyopathy, familial hypertrophic 1
- hypertrophic cardiomyopathy 19
- Definition
- A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12.
- Super Class
- familial hypertrophic cardiomyopathy
External Links
- Disease Ontology
- DOID:0110307
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 353 | APRT | adenine phosphoribosyltransferase | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2717 | GLA | galactosidase alpha | |
| 2799 | GNS | glucosamine (N-acetyl)-6-sulfatase | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 | |
| 4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
| 5310 | PKD1 | polycystin 1, transient receptor potential channel interacting | |
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 6448 | SGSH | N-sulfoglucosamine sulfohydrolase | |
| 80339 | PNPLA3 | patatin like phospholipase domain containing 3 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96L12 | Calreticulin-3 | |
| Q9NST1 | 1-acylglycerol-3-phosphate O-acyltransferase PNPLA3 |
