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 11 - 20 of 38 in total
Gene ID Gene Symbol Description Source
2273 FHL1 four and a half LIM domains 1
2316 FLNA filamin A
2317 FLNB filamin B
2318 FLNC filamin C
3156 HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase
3178 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1
3181 HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1
4000 LMNA lamin A/C
4001 LMNB1 lamin B1
4534 MTM1 myotubularin 1
Displaying entries 31 - 35 of 35 in total
Gene ID Gene Symbol Description Source
214058 Megf11 multiple EGF-like-domains 11
229279 Hnrnpa3 heterogeneous nuclear ribonucleoprotein A3
286940 Flnb filamin, beta
544791 Myh13 myosin, heavy polypeptide 13, skeletal muscle
668940 Myh7b myosin, heavy chain 7B, 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