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autosomal dominant Emery-Dreifuss muscular dystrophy 2
Summary
- Synonym
-
- EDMD2
- EMD2
- Emery-Dreifuss muscular dystrophy 2, autosomal dominant
- Emery-Dreifuss muscular dystrophy, autosomal dominant
- Hauptmann-Thannhauser muscular dystrophy
- autosomal dominant limb-girdle muscular dystrophy type 1B
- muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant
- scapuloilioperoneal atrophy with cardiopathy
- Definition
- An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22.
- Super Class
- Emery-Dreifuss muscular dystrophy autosomal dominant disease
External Links
- Disease Ontology
- DOID:0070247
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 10329 | RXYLT1 | ribitol xylosyltransferase 1 | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 | |
| 27306 | HPGDS | hematopoietic prostaglandin D synthase | |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 51763 | INPP5K | inositol polyphosphate-5-phosphatase K | |
| 54344 | DPM3 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 56983 | POGLUT1 | protein O-glucosyltransferase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y5P6 | Mannose-1-phosphate guanyltransferase beta | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
