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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
myofibrillar myopathy 1
Summary
- Synonym
-
- autosomal recessive limb-girdle muscular dystrophy type 2R
- desminopathy
- Definition
- A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35.
- Super Class
- autosomal dominant disease autosomal recessive disease myofibrillar myopathy
External Links
- Disease Ontology
- DOID:0080092
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 8871 | SYNJ2 | synaptojanin 2 | |
| 8972 | MGAM | maltase-glucoamylase | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 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 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P17931 | Galectin-3 | |
| P21912 | Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial | |
| P22303 | Acetylcholinesterase | |
| P29218 | Inositol monophosphatase 1 | |
| P32019 | Type II inositol 1,4,5-trisphosphate 5-phosphatase | |
| P32189 | Glycerol kinase | |
| P34741 | Syndecan-2 | |
| P35573 | Glycogen debranching enzyme | |
| P48735 | Isocitrate dehydrogenase [NADP], mitochondrial | |
| Q00796 | Sorbitol dehydrogenase |
