abnormal skeletal muscle fiber size Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the size of the large multinucleated cells that make up the skeletal muscles (Mammalian Phenotype Ontology, MP_0009398)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009398
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92 gene mutations causing the abnormal skeletal muscle fiber size phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
AFG3L2 AFG3-like AAA ATPase 2
AGTPBP1 ATP/GTP binding protein 1
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
APP amyloid beta (A4) precursor protein
AR androgen receptor
BARX2 BARX homeobox 2
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CAPN3 calpain 3, (p94)
CAV2 caveolin 2
CAV3 caveolin 3
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CHAT choline O-acetyltransferase
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
COL13A1 collagen, type XIII, alpha 1
COL6A3 collagen, type VI, alpha 3
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTH cystathionine gamma-lyase
DES desmin
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
DNM2 dynamin 2
DOCK1 dedicator of cytokinesis 1
DST dystonin
DUSP1 dual specificity phosphatase 1
DYSF dysferlin
EP300 E1A binding protein p300
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
FBN2 fibrillin 2
FKRP fukutin related protein
FLNC filamin C, gamma
FOXN1 forkhead box N1
FZD4 frizzled class receptor 4
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HSPG2 heparan sulfate proteoglycan 2
IGHMBP2 immunoglobulin mu binding protein 2
ITGA7 integrin, alpha 7
LAMA2 laminin, alpha 2
LAMC1 laminin, gamma 1 (formerly LAMB2)
LARGE like-glycosyltransferase
LDB3 LIM domain binding 3
LEP leptin
LMNA lamin A/C
LTN1 listerin E3 ubiquitin protein ligase 1
MAML1 mastermind-like 1 (Drosophila)
MBNL2 muscleblind-like splicing regulator 2
MBNL3 muscleblind-like splicing regulator 3
MEOX2 mesenchyme homeobox 2
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MNX1 motor neuron and pancreas homeobox 1
MSTN myostatin
MTM1 myotubularin 1
MYF5 myogenic factor 5
MYH4 myosin, heavy chain 4, skeletal muscle
MYOZ1 myozenin 1
MYOZ2 myozenin 2
NEB nebulin
NR1D1 nuclear receptor subfamily 1, group D, member 1
PARL presenilin associated, rhomboid-like
PAX7 paired box 7
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLEC plectin
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PPP3CB protein phosphatase 3, catalytic subunit, beta isozyme
PRKAB2 protein kinase, AMP-activated, beta 2 non-catalytic subunit
RER1 retention in endoplasmic reticulum sorting receptor 1
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1
RYR1 ryanodine receptor 1 (skeletal)
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCYL1 SCY1-like 1 (S. cerevisiae)
SEPN1 selenoprotein N, 1
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SKI SKI proto-oncogene
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
SMN1 survival of motor neuron 1, telomeric
SOD2 superoxide dismutase 2, mitochondrial
SYPL2 synaptophysin-like 2
TCAP titin-cap
TRIM32 tripartite motif containing 32
TRIM55 tripartite motif containing 55
TRIM63 tripartite motif containing 63, E3 ubiquitin protein ligase
TRIM72 tripartite motif containing 72, E3 ubiquitin protein ligase
TTN titin
TTPA tocopherol (alpha) transfer protein
VCP valosin containing protein
VEGFA vascular endothelial growth factor A
WASF1 WAS protein family, member 1
XK X-linked Kx blood group