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rippling muscle disease 2
Summary
- Synonym
-
- autosomal dominant limb-girdle muscular dystrophy type 1C
- Definition
- A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.
- Super Class
- autosomal dominant disease muscle tissue disease
External Links
- Disease Ontology
- DOID:0060255
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
| 178 | AGL | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 1119 | CHKA | choline kinase alpha | |
| 1120 | CHKB | choline kinase beta | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1634 | DCN | decorin | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 1800 | DPEP1 | dipeptidase 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 |
