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 1X
Summary
- Synonym
-
- CMD1X
- dilated cardiomyopathy with mild or no proximal muscle weakness
- Definition
- A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31.
- Super Class
- autosomal recessive disease dilated cardiomyopathy
External Links
- Disease Ontology
- DOID:0110444
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13093 | Platelet-activating factor acetylhydrolase | |
| Q14118 | Dystroglycan 1 | |
| Q16836 | Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial | |
| Q29983 | MHC class I polypeptide-related sequence A | |
| Q6ZVN8 | Hemojuvelin | |
| Q9H9S5 | Ribitol 5-phosphate transferase FKRP | |
| Q9UKY4 | Protein O-mannosyl-transferase 2 | |
| Q9Y259 | Choline/ethanolamine kinase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012764 | Orthopnea |
| HP:0100578 | Lipoatrophy |
| HP:0003391 | Gowers sign |
| HP:0003701 | Proximal muscle weakness |
| HP:0011462 | Young adult onset |
| HP:0003596 | Middle age onset |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0008981 | Calf muscle hypertrophy |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0012664 | Reduced left ventricular ejection fraction |
