abnormal skeletal muscle morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of any of the striated muscle fibers connected at either or both extremities with the bony framework of the body (Mammalian Phenotype Ontology, MP_0000759)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000759
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Genes

293 gene mutations causing the abnormal skeletal muscle morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACADVL acyl-CoA dehydrogenase, very long chain
ACTA1 actin, alpha 1, skeletal muscle
ACTN3 actinin, alpha 3 (gene/pseudogene)
ACVR1 activin A receptor, type I
ADAM12 ADAM metallopeptidase domain 12
ADAM19 ADAM metallopeptidase domain 19
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
ADIPOQ adiponectin, C1Q and collagen domain containing
AFG3L2 AFG3-like AAA ATPase 2
AGRN agrin
AGTPBP1 ATP/GTP binding protein 1
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ANKRD2 ankyrin repeat domain 2 (stretch responsive muscle)
APP amyloid beta (A4) precursor protein
AR androgen receptor
ARSB arylsulfatase B
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
BACE1 beta-site APP-cleaving enzyme 1
BAG3 BCL2-associated athanogene 3
BARX2 BARX homeobox 2
BCL2 B-cell CLL/lymphoma 2
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CACNB1 calcium channel, voltage-dependent, beta 1 subunit
CAPN3 calpain 3, (p94)
CAPN6 calpain 6
CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle)
CAV1 caveolin 1, caveolae protein, 22kDa
CAV2 caveolin 2
CAV3 caveolin 3
CCL13 chemokine (C-C motif) ligand 13
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CFL2 cofilin 2 (muscle)
CHAT choline O-acetyltransferase
CHKB choline kinase beta
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CISD2 CDGSH iron sulfur domain 2
CLCN1 chloride channel, voltage-sensitive 1
CLIP3 CAP-GLY domain containing linker protein 3
CLP1 cleavage and polyadenylation factor I subunit 1
COL12A1 collagen, type XII, alpha 1
COL13A1 collagen, type XIII, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A3 collagen, type VI, alpha 3
COMP cartilage oligomeric matrix protein
CRYAB crystallin, alpha B
CSF1 colony stimulating factor 1 (macrophage)
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTH cystathionine gamma-lyase
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DES desmin
DLL1 delta-like 1 (Drosophila)
DLX2 distal-less homeobox 2
DLX5 distal-less homeobox 5
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DNASE2 deoxyribonuclease II, lysosomal
DNM2 dynamin 2
DOCK1 dedicator of cytokinesis 1
DST dystonin
DUSP1 dual specificity phosphatase 1
DUSP6 dual specificity phosphatase 6
DYSF dysferlin
ECEL1 endothelin converting enzyme-like 1
EDNRB endothelin receptor type B
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EGLN2 egl-9 family hypoxia-inducible factor 2
EGR3 early growth response 3
EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4
EMD emerin
EP300 E1A binding protein p300
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERBB2 erb-b2 receptor tyrosine kinase 2
ERCC1 excision repair cross-complementation group 1
ESR1 estrogen receptor 1
ETV1 ets variant 1
EYA1 EYA transcriptional coactivator and phosphatase 1
FBN1 fibrillin 1
FBN2 fibrillin 2
FGF10 fibroblast growth factor 10
FGF6 fibroblast growth factor 6
FGFR2 fibroblast growth factor receptor 2
FGFRL1 fibroblast growth factor receptor-like 1
FKRP fukutin related protein
FLNC filamin C, gamma
FNIP1 folliculin interacting protein 1
FOXJ3 forkhead box J3
FOXN1 forkhead box N1
FREM1 FRAS1 related extracellular matrix 1
FST follistatin
FUZ fuzzy planar cell polarity protein
FZD4 frizzled class receptor 4
GAA glucosidase, alpha; acid
GAB1 GRB2-associated binding protein 1
GARS glycyl-tRNA synthetase
GATA4 GATA binding protein 4
GBE1 glucan (1,4-alpha-), branching enzyme 1
GDNF glial cell derived neurotrophic factor
GFRA1 GDNF family receptor alpha 1
GJD4 gap junction protein, delta 4, 40.1kDa
GSC goosecoid homeobox
GTF2IRD1 GTF2I repeat domain containing 1
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HAND2 heart and neural crest derivatives expressed 2
HBA1 hemoglobin, alpha 1
HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor
HLX H2.0-like homeobox
HMBS hydroxymethylbilane synthase
HOXA2 homeobox A2
HOXA3 homeobox A3
HOXB4 homeobox B4
HOXC10 homeobox C10
HRC histidine rich calcium binding protein
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HSPG2 heparan sulfate proteoglycan 2
IFNG interferon, gamma
IFRD1 interferon-related developmental regulator 1
IGFBP3 insulin-like growth factor binding protein 3
IGHMBP2 immunoglobulin mu binding protein 2
IL6 interleukin 6
ILF3 interleukin enhancer binding factor 3, 90kDa
INHBA inhibin, beta A
INHBB inhibin, beta B
INPP5K inositol polyphosphate-5-phosphatase K
INSR insulin receptor
ITGA7 integrin, alpha 7
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
JPH1 junctophilin 1
KIF7 kinesin family member 7
KL klotho
KY kyphoscoliosis peptidase
LAMA2 laminin, alpha 2
LAMC1 laminin, gamma 1 (formerly LAMB2)
LARGE like-glycosyltransferase
LBX1 ladybird homeobox 1
LDB3 LIM domain binding 3
LEP leptin
LMNA lamin A/C
LMNB1 lamin B1
LMO7 LIM domain 7
LOX lysyl oxidase
LPL lipoprotein lipase
LRP1 low density lipoprotein receptor-related protein 1
LTN1 listerin E3 ubiquitin protein ligase 1
MAML1 mastermind-like 1 (Drosophila)
MB myoglobin
MBNL1 muscleblind-like splicing regulator 1
MBNL2 muscleblind-like splicing regulator 2
MBNL3 muscleblind-like splicing regulator 3
MCOLN1 mucolipin 1
MEG3 maternally expressed 3 (non-protein coding)
MEOX2 mesenchyme homeobox 2
MET MET proto-oncogene, receptor tyrosine kinase
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP9 matrix metallopeptidase 9
MNX1 motor neuron and pancreas homeobox 1
MPV17 MpV17 mitochondrial inner membrane protein
MSTN myostatin
MTM1 myotubularin 1
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MUSK muscle, skeletal, receptor tyrosine kinase
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYCBP2 MYC binding protein 2, E3 ubiquitin protein ligase
MYF5 myogenic factor 5
MYF6 myogenic factor 6 (herculin)
MYH1 myosin, heavy chain 1, skeletal muscle, adult
MYH4 myosin, heavy chain 4, skeletal muscle
MYLPF myosin light chain, phosphorylatable, fast skeletal muscle
MYOD1 myogenic differentiation 1
MYOF myoferlin
MYOG myogenin (myogenic factor 4)
MYOZ1 myozenin 1
MYOZ2 myozenin 2
MYT1 myelin transcription factor 1
NACA nascent polypeptide-associated complex alpha subunit
NCOA3 nuclear receptor coactivator 3
NDRG1 N-myc downstream regulated 1
NEB nebulin
NEURL2 neuralized E3 ubiquitin protein ligase 2
NF1 neurofibromin 1
NFATC3 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3
NGFR nerve growth factor receptor
NMNAT2 nicotinamide nucleotide adenylyltransferase 2
NOS1 nitric oxide synthase 1 (neuronal)
NOTCH3 notch 3
NR1D1 nuclear receptor subfamily 1, group D, member 1
NRG1 neuregulin 1
NTF3 neurotrophin 3
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
OTX2 orthodenticle homeobox 2
PARL presenilin associated, rhomboid-like
PAX3 paired box 3
PAX7 paired box 7
PAX9 paired box 9
PBX1 pre-B-cell leukemia homeobox 1
PCSK1 proprotein convertase subtilisin/kexin type 1
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PFKM phosphofructokinase, muscle
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PITX2 paired-like homeodomain 2
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLEC plectin
PLIN1 perilipin 1
POLG polymerase (DNA directed), gamma
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
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
PTRH2 peptidyl-tRNA hydrolase 2
RER1 retention in endoplasmic reticulum sorting receptor 1
RET ret proto-oncogene
RND3 Rho family GTPase 3
ROBO4 roundabout, axon guidance receptor, homolog 4 (Drosophila)
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RUNX3 runt-related transcription factor 3
RYR1 ryanodine receptor 1 (skeletal)
SAMD4A sterile alpha motif domain containing 4A
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCYL1 SCY1-like 1 (S. cerevisiae)
SEC61A1 Sec61 alpha 1 subunit (S. cerevisiae)
SEPN1 selenoprotein N, 1
SERP1 stress-associated endoplasmic reticulum protein 1
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SIX1 SIX homeobox 1
SKI SKI proto-oncogene
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3
SLIT3 slit homolog 3 (Drosophila)
SMN1 survival of motor neuron 1, telomeric
SMTNL1 smoothelin-like 1
SNAP25 synaptosomal-associated protein, 25kDa
SOD2 superoxide dismutase 2, mitochondrial
SOX15 SRY (sex determining region Y)-box 15
SOX7 SRY (sex determining region Y)-box 7
SRPK3 SRSF protein kinase 3
SSPN sarcospan
STAC3 SH3 and cysteine rich domain 3
SYNE1 spectrin repeat containing, nuclear envelope 1
SYPL2 synaptophysin-like 2
SYT7 synaptotagmin VII
TBX1 T-box 1
TBX15 T-box 15
TCAP titin-cap
TCF15 transcription factor 15 (basic helix-loop-helix)
TGFB1 transforming growth factor, beta 1
TLN2 talin 2
TNNT3 troponin T type 3 (skeletal, fast)
TP53 tumor protein p53
TRAF2 TNF receptor-associated factor 2
TRDN triadin
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
TRIO trio Rho guanine nucleotide exchange factor
TTN titin
TTPA tocopherol (alpha) transfer protein
TWIST2 twist family bHLH transcription factor 2
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UCHL3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
VCP valosin containing protein
VDAC3 voltage-dependent anion channel 3
VEGFA vascular endothelial growth factor A
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)
WASF1 WAS protein family, member 1
WDR35 WD repeat domain 35
WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1
WFIKKN2 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2
WT1 Wilms tumor 1
XDH xanthine dehydrogenase
XK X-linked Kx blood group
ZFPM2 zinc finger protein, FOG family member 2