increased skeletal muscle fiber size Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description increase in the size of the large multinucleated cells that make up the skeletal muscles (Mammalian Phenotype Ontology, MP_0009399)
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20 gene mutations causing the increased skeletal muscle fiber size phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CAV2 caveolin 2
DES desmin
DMD dystrophin
DNM2 dynamin 2
DYSF dysferlin
ITGA7 integrin, alpha 7
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MSTN myostatin
MYF5 myogenic factor 5
MYH4 myosin, heavy chain 4, skeletal muscle
MYOZ1 myozenin 1
NR1D1 nuclear receptor subfamily 1, group D, member 1
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLEC plectin
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SMN1 survival of motor neuron 1, telomeric
TRIM55 tripartite motif containing 55
TRIM63 tripartite motif containing 63, E3 ubiquitin protein ligase