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myotonic dystrophy type 2
Summary
- Definition
- A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.
- Super Class
- myotonic disease
External Links
- Disease Ontology
- DOID:0050759
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 250 | ALPP | alkaline phosphatase, placental | |
| 1116 | CHI3L1 | chitinase 3 like 1 | |
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 1595 | CYP51A1 | cytochrome P450 family 51 subfamily A member 1 | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2194 | FASN | fatty acid synthase | |
| 2645 | GCK | glucokinase | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q99999 | Galactosylceramide sulfotransferase | |
| Q9BXR0 | Queuine tRNA-ribosyltransferase catalytic subunit 1 | |
| Q9NQ66 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 |
