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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 |
|---|---|---|---|
| 8809 | IL18R1 | interleukin 18 receptor 1 | |
| 8972 | MGAM | maltase-glucoamylase | |
| 9514 | GAL3ST1 | galactose-3-O-sulfotransferase 1 | |
| 10559 | SLC35A1 | solute carrier family 35 member A1 | |
| 23236 | PLCB1 | phospholipase C beta 1 | |
| 26033 | ATRNL1 | attractin like 1 | |
| 81890 | QTRT1 | queuine tRNA-ribosyltransferase catalytic subunit 1 | |
| 159371 | SLC35G1 | solute carrier family 35 member G1 | |
| 283871 | PGP | phosphoglycolate phosphatase |
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 |
