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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Charcot-Marie-Tooth disease
Summary
- Synonym
-
- CMT - Charcot-Marie-Tooth disease
- Definition
- A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.
- Super Class
- neuromuscular disease
External Links
- Disease Ontology
- DOID:10595
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 16 | AARS1 | alanyl-tRNA synthetase 1 | |
| 182 | JAG1 | jagged canonical Notch ligand 1 | |
| 3084 | NRG1 | neuregulin 1 | |
| 3710 | ITPR3 | inositol 1,4,5-trisphosphate receptor type 3 | |
| 4359 | MPZ | myelin protein zero | |
| 4534 | MTM1 | myotubularin 1 | |
| 4677 | NARS1 | asparaginyl-tRNA synthetase 1 | |
| 4747 | NEFL | neurofilament light chain | |
| 4982 | TNFRSF11B | TNF receptor superfamily member 11b | |
| 5376 | PMP22 | peripheral myelin protein 22 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 16440 | Itpr3 | inositol 1,4,5-triphosphate receptor 3 | |
| 16449 | Jag1 | jagged 1 | |
| 17528 | Mpz | myelin protein zero | |
| 18039 | Nefl | neurofilament, light polypeptide | |
| 18383 | Tnfrsf11b | tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) | |
| 18858 | Pmp22 | peripheral myelin protein 22 | |
| 23876 | Fbln5 | fibulin 5 | |
| 53332 | Mtmr1 | myotubularin related protein 1 | |
| 94332 | Cadm3 | cell adhesion molecule 3 | |
| 107271 | Yars1 | tyrosyl-tRNA synthetase 1 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 24564 | Mpz | myelin protein zero | |
| 24660 | Pmp22 | peripheral myelin protein 22 | |
| 25341 | Tnfrsf11b | TNF receptor superfamily member 11B | |
| 29146 | Jag1 | jagged canonical Notch ligand 1 | |
| 29158 | Fbln5 | fibulin 5 | |
| 83613 | Nefl | neurofilament light chain | |
| 360882 | Cadm3 | cell adhesion molecule 3 |
