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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
myofibrillar myopathy 3
Summary
- Synonym
-
- LGMD 1A
- autosomal dominant limb-girdle muscular dystrophy type 1A
- myotilinopathy
- spheroid body myopathy
- Definition
- A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31.
- Super Class
- autosomal dominant disease myofibrillar myopathy
External Links
- Disease Ontology
- DOID:0080094
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
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 |
|---|---|---|
| P06733 | Alpha-enolase | |
| P07585 | Decorin | |
| P07741 | Adenine phosphoribosyltransferase | |
| P09874 | Poly [ADP-ribose] polymerase 1 | |
| P11226 | Mannose-binding protein C | |
| P12821 | Angiotensin-converting enzyme | |
| P13727 | Bone marrow proteoglycan | |
| P14410 | Sucrase-isomaltase, intestinal | |
| P16278 | Beta-galactosidase | |
| P16444 | Dipeptidase 1 |
