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familial hypertrophic cardiomyopathy
Summary
- Definition
- A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations.
- Super Class
- hypertrophic cardiomyopathy
External Links
- Disease Ontology
- DOID:0080326
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 56052 | ALG1 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | |
| 79158 | GNPTAB | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | |
| 79966 | SCD5 | stearoyl-CoA desaturase 5 | |
| 81031 | SLC2A10 | solute carrier family 2 member 10 | |
| 91949 | COG7 | component of oligomeric golgi complex 7 | |
| 125972 | CALR3 | calreticulin 3 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13085 | Acetyl-CoA carboxylase 1 | |
| Q13093 | Platelet-activating factor acetylhydrolase | |
| Q16836 | Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial | |
| Q3T906 | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta | |
| Q96L12 | Calreticulin-3 | |
| Q9BT22 | Chitobiosyldiphosphodolichol beta-mannosyltransferase | |
| Q9P232 | Contactin-3 |
