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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 |
|---|---|---|---|
| 8879 | SGPL1 | sphingosine-1-phosphate lyase 1 | |
| 8897 | MTMR3 | myotubularin related protein 3 | |
| 8898 | MTMR2 | myotubularin related protein 2 | |
| 9107 | MTMR6 | myotubularin related protein 6 | |
| 9108 | MTMR7 | myotubularin related protein 7 | |
| 9110 | MTMR4 | myotubularin related protein 4 | |
| 9517 | SPTLC2 | serine palmitoyltransferase long chain base subunit 2 | |
| 9896 | FIG4 | FIG4 phosphoinositide 5-phosphatase | |
| 10558 | SPTLC1 | serine palmitoyltransferase long chain base subunit 1 | |
| 10855 | HPSE | heparanase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P00558 | Phosphoglycerate kinase 1 | |
| P04040 | Catalase | |
| P04062 | Lysosomal acid glucosylceramidase | |
| P04156 | Major prion protein | |
| P04180 | Phosphatidylcholine-sterol acyltransferase | |
| P12821 | Angiotensin-converting enzyme | |
| P15289 | Arylsulfatase A | |
| P16070 | CD44 antigen | |
| P19367 | Hexokinase-1 | |
| P20916 | Myelin-associated glycoprotein |
