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Standards Ontologies Notations
myopathy

Summary
Definition
A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
Super Class
muscle tissue disease
Disease Ontology
DOID:423
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 38 in total
Gene ID Gene Symbol Description Source
60 ACTB actin beta
1181 CLCN2 chloride voltage-gated channel 2
1188 CLCNKB chloride voltage-gated channel Kb
1282 COL4A1 collagen type IV alpha 1 chain
1285 COL4A3 collagen type IV alpha 3 chain
1286 COL4A4 collagen type IV alpha 4 chain
1287 COL4A5 collagen type IV alpha 5 chain
1288 COL4A6 collagen type IV alpha 6 chain
1306 COL15A1 collagen type XV alpha 1 chain
1785 DNM2 dynamin 2
Displaying entries 21 - 30 of 35 in total
Gene ID Gene Symbol Description Source
19184 Psmc5 protease (prosome, macropain) 26S subunit, ATPase 5
24131 Ldb3 LIM domain binding 3
53332 Mtmr1 myotubularin related protein 1
56365 Clcnkb chloride channel, voltage-sensitive Kb
56376 Pdlim5 PDZ and LIM domain 5
67399 Pdlim7 PDZ and LIM domain 7
68794 Flnc filamin C, gamma
70417 Megf10 multiple EGF-like-domains 10
73182 Pear1 platelet endothelial aggregation receptor 1
140781 Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta
Displaying all 6 entries
Gene ID Gene Symbol Description Source
25675 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase
64353 Pdlim5 PDZ and LIM domain 5
79430 Clcnkb chloride voltage-gated channel Kb
81822 Actb actin, beta
116685 Lmnb1 lamin B1
286908 Pdlim7 PDZ and LIM domain 7
Displaying all 4 entries
Gene ID Gene Symbol Description Source
33727 Col4a1 Collagen type IV alpha 1
36740 Zasp52 Z band alternatively spliced PDZ-motif protein 52
38218 drpr draper
42803 Hmgcr HMG Coenzyme A reductase
Displaying all 4 entries
Gene ID Gene Symbol Description Source
172678 cle-1 Collagen alpha-1(XVIII) chain;Endostatin domain-containing protein;Fibronectin type-III domain-containing protein
173064 ced-1 Cell death abnormality protein 1
174821 clh-1 CBS domain-containing protein
181708 let-2 Collagen alpha-2(IV) chain
Displaying all 3 entries
Gene ID Gene Symbol Description Source
851171 HMG2 hydroxymethylglutaryl-CoA reductase (NADPH) HMG2
853870 VPS1 dynamin-like GTPase VPS1
854900 HMG1 hydroxymethylglutaryl-CoA reductase (NADPH) HMG1
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024