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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
autosomal dominant limb-girdle muscular dystrophy type 2
Summary
- Synonym
-
- LGMD1F
- autosomal dominant limb-girdle muscular dystrophy type 1F
- muscular dystrophy limb-girdle type 1F
- Definition
- An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32.
- Super Class
- autosomal dominant limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110304
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 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-) | |
| 55750 | AGK | acylglycerol kinase | |
| 56983 | POGLUT1 | protein O-glucosyltransferase 1 | |
| 79147 | FKRP | fukutin related protein | |
| 84197 | POMK | protein O-mannose kinase |
Related Glycoprotein
