increased variability of skeletal muscle fiber size Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls (Mammalian Phenotype Ontology, MP_0009403)
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32 gene mutations causing the increased variability of skeletal muscle fiber size phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
APP amyloid beta (A4) precursor protein
AR androgen receptor
BARX2 BARX homeobox 2
CAV3 caveolin 3
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
COL6A3 collagen, type VI, alpha 3
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
DYSF dysferlin
FKRP fukutin related protein
FLNC filamin C, gamma
HSPG2 heparan sulfate proteoglycan 2
IGHMBP2 immunoglobulin mu binding protein 2
ITGA7 integrin, alpha 7
LAMA2 laminin, alpha 2
LARGE like-glycosyltransferase
LDB3 LIM domain binding 3
MAML1 mastermind-like 1 (Drosophila)
MEOX2 mesenchyme homeobox 2
MTM1 myotubularin 1
MYF5 myogenic factor 5
MYH4 myosin, heavy chain 4, skeletal muscle
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
RYR1 ryanodine receptor 1 (skeletal)
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCYL1 SCY1-like 1 (S. cerevisiae)
TRIM32 tripartite motif containing 32
TTN titin
TTPA tocopherol (alpha) transfer protein
VCP valosin containing protein
XK X-linked Kx blood group