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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 |
|---|---|---|---|
| 10516 | FBLN5 | fibulin 5 | |
| 55613 | MTMR8 | myotubularin related protein 8 | |
| 55703 | POLR3B | RNA polymerase III subunit B | |
| 57505 | AARS2 | alanyl-tRNA synthetase 2, mitochondrial | |
| 57863 | CADM3 | cell adhesion molecule 3 | |
| 89846 | FGD3 | FYVE, RhoGEF and PH domain containing 3 | |
| 653689 | GSTT2B | glutathione S-transferase theta 2B |
| 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 |
