skeletal muscle degeneration Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description pathological deterioration of skeletal muscle tissue, often accompanied by loss of function (Mammalian Phenotype Ontology, MP_0009415)
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17 gene mutations causing the skeletal muscle degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACVR1 activin A receptor, type I
ARSB arylsulfatase B
BAG3 BCL2-associated athanogene 3
CAPN3 calpain 3, (p94)
CFL2 cofilin 2 (muscle)
DMD dystrophin
DYSF dysferlin
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
FKRP fukutin related protein
HMBS hydroxymethylbilane synthase
LARGE like-glycosyltransferase
LMNA lamin A/C
MYH4 myosin, heavy chain 4, skeletal muscle
MYOF myoferlin
PFKM phosphofructokinase, muscle
RYR1 ryanodine receptor 1 (skeletal)
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)