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MIRAGE
muscular dystrophy
Summary
- Definition
- A myopathy is characterized by progressive skeletal muscle weakness degeneration.
- Super Class
- myopathy
External Links
- Disease Ontology
- DOID:9884
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 825 | CAPN3 | calpain 3 | |
| 1120 | CHKB | choline kinase beta | |
| 1293 | COL6A3 | collagen type VI alpha 3 chain | |
| 2218 | FKTN | fukutin | |
| 3908 | LAMA2 | laminin subunit alpha 2 | |
| 6442 | SGCA | sarcoglycan alpha | |
| 6443 | SGCB | sarcoglycan beta | |
| 6444 | SGCD | sarcoglycan delta | |
| 8291 | DYSF | dysferlin | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75072 | Ribitol-5-phosphate transferase FKTN | |
| O75923 | Dysferlin | |
| P12111 | Collagen alpha-3(VI) chain | |
| P20807 | Calpain-3 | |
| P24043 | Laminin subunit alpha-2 | |
| Q16585 | Beta-sarcoglycan | |
| Q16586 | Alpha-sarcoglycan | |
| Q8NF91 | Nesprin-1 | |
| Q92629 | Delta-sarcoglycan | |
| Q9H9S5 | Ribitol 5-phosphate transferase FKRP |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8CG64 | Ribitol 5-phosphate transferase FKRP |
| UniProt ID | Protein Name | Source |
|---|---|---|
| B7YZK8 | Thin, isoform C |
| UniProt ID | Protein Name | Source |
|---|---|---|
| G5ECE3 | Laminin subunit alpha lam-3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003202 | Skeletal muscle atrophy |
| HP:0008046 | Abnormal retinal vascular morphology |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0100540 | Palpebral edema |
| HP:0003307 | Hyperlordosis |
| HP:0000298 | Mask-like facies |
| HP:0003457 | EMG abnormality |
| HP:0000499 | Abnormal eyelash morphology |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0003236 | Elevated circulating creatine kinase concentration |
