myopathy

Summary
Definition
A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
Super Class
muscle tissue disease
External Links
Disease Ontology
DOID:423
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
MGI genotype (from TogoID)
Related Genes
Displaying entries 61 - 70 of 78 in total
Gene ID Gene Symbol Description Source
29925 GMPPB GDP-mannose pyrophosphorylase B
29954 POMT2 protein O-mannosyltransferase 2
51763 INPP5K inositol polyphosphate-5-phosphatase K
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
55750 AGK acylglycerol kinase
57104 PNPLA2 patatin like phospholipase domain containing 2
64419 MTMR14 myotubularin related protein 14
79147 FKRP fukutin related protein
80896 NPL N-acetylneuraminate pyruvate lyase
81035 COLEC12 collectin subfamily member 12

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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: August 19, 2024