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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 825 | CAPN3 | calpain 3 | |
| 1120 | CHKB | choline kinase beta | |
| 1291 | COL6A1 | collagen type VI alpha 1 chain | |
| 1293 | COL6A3 | collagen type VI alpha 3 chain | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1756 | DMD | dystrophin | |
| 2218 | FKTN | fukutin | |
| 3908 | LAMA2 | laminin subunit alpha 2 | |
| 4000 | LMNA | lamin A/C | |
| 4001 | LMNB1 | lamin B1 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 24835 | Tnf | tumor necrosis factor | |
| 84430 | Pomt1 | protein-O-mannosyltransferase 1 | |
| 116685 | Lmnb1 | lamin B1 | |
| 308390 | Fkrp | fukutin related protein | |
| 362520 | Fktn | fukutin | |
| 362567 | Pomgnt1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 688673 | Pomt2 | protein-O-mannosyltransferase 2 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 851210 | PMT2 | dolichyl-phosphate-mannose-protein mannosyltransferase PMT2 | |
| 853113 | PMT6 | dolichyl-phosphate-mannose-protein mannosyltransferase PMT6 | |
| 853608 | PMT4 | dolichyl-phosphate-mannose-protein mannosyltransferase | |
| 854499 | PMT3 | dolichyl-phosphate-mannose-protein mannosyltransferase PMT3 |
- 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 |
