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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 |
|---|---|---|---|
| 28 | ABO | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | |
| 31 | ACACA | acetyl-CoA carboxylase alpha | |
| 33 | ACADL | acyl-CoA dehydrogenase long chain | |
| 37 | ACADVL | acyl-CoA dehydrogenase very long chain | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 414 | ARSD | arylsulfatase D | |
| 523 | ATP6V1A | ATPase H+ transporting V1 subunit A | |
| 811 | CALR | calreticulin | |
| 1374 | CPT1A | carnitine palmitoyltransferase 1A | |
| 1585 | CYP11B2 | cytochrome P450 family 11 subfamily B member 2 |
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 |
