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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 31 - 38 of 38 in total
Gene ID Gene Symbol Description Source
80781 COL18A1 collagen type XVIII alpha 1 chain
80896 NPL N-acetylneuraminate pyruvate lyase
84465 MEGF11 multiple EGF like domains 11
84466 MEGF10 multiple EGF like domains 10
84823 LMNB2 lamin B2
144983 HNRNPA1L2 heterogeneous nuclear ribonucleoprotein A1 like 2
220988 HNRNPA3 heterogeneous nuclear ribonucleoprotein A3
375033 PEAR1 platelet endothelial aggregation receptor 1
Displaying entries 11 - 20 of 35 in total
Gene ID Gene Symbol Description Source
15357 Hmgcr 3-hydroxy-3-methylglutaryl-Coenzyme A reductase
15382 Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1
16905 Lmna lamin A
16906 Lmnb1 lamin B1
16907 Lmnb2 lamin B2
17879 Myh1 myosin, heavy polypeptide 1, skeletal muscle, adult
17882 Myh2 myosin, heavy polypeptide 2, skeletal muscle, adult
17883 Myh3 myosin, heavy polypeptide 3, skeletal muscle, embryonic
17884 Myh4 myosin, heavy polypeptide 4, skeletal muscle
17888 Myh6 myosin, heavy polypeptide 6, cardiac muscle, alpha
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