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facioscapulohumeral muscular dystrophy 1
Summary
- Synonym
-
- FSHD1
- facioscapulohumeral muscular dystrophy type 1
- facioscapulohumeral muscular dystrophy type 1A
- Definition
- A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35.
- Super Class
- facioscapulohumeral muscular dystrophy
External Links
- Disease Ontology
- DOID:0111192
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 176 | ACAN | aggrecan | |
| 250 | ALPP | alkaline phosphatase, placental | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 1634 | DCN | decorin | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 6383 | SDC2 | syndecan 2 | |
| 6484 | ST3GAL4 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 26033 | ATRNL1 | attractin like 1 |
Related Glycoprotein
