abnormal hypaxial muscle morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the muscles derived from the lateral myotome and lateral portion of the dermomyotome; these include the thoracic intercostal and abdominal muscles, limb muscles and superficial back muscles, as well as the diaphragm and the tip of the tongue (Mammalian Phenotype Ontology, MP_0003358)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003358
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Genes

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

Symbol Name
ADAM19 ADAM metallopeptidase domain 19
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
BARX2 BARX homeobox 2
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CAPN3 calpain 3, (p94)
CHAT choline O-acetyltransferase
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLIP3 CAP-GLY domain containing linker protein 3
COL12A1 collagen, type XII, alpha 1
COL6A1 collagen, type VI, alpha 1
DES desmin
DMD dystrophin
DNASE2 deoxyribonuclease II, lysosomal
DOCK1 dedicator of cytokinesis 1
ECEL1 endothelin converting enzyme-like 1
EDNRB endothelin receptor type B
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EMD emerin
FBN1 fibrillin 1
FGF10 fibroblast growth factor 10
FGFRL1 fibroblast growth factor receptor-like 1
FKRP fukutin related protein
FLNC filamin C, gamma
FOXJ3 forkhead box J3
FREM1 FRAS1 related extracellular matrix 1
FST follistatin
FUZ fuzzy planar cell polarity protein
GAB1 GRB2-associated binding protein 1
GARS glycyl-tRNA synthetase
GATA4 GATA binding protein 4
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor
HLX H2.0-like homeobox
HOXB4 homeobox B4
IFRD1 interferon-related developmental regulator 1
IGFBP3 insulin-like growth factor binding protein 3
IGHMBP2 immunoglobulin mu binding protein 2
ILF3 interleukin enhancer binding factor 3, 90kDa
INHBA inhibin, beta A
INHBB inhibin, beta B
ITGA7 integrin, alpha 7
KIF7 kinesin family member 7
KL klotho
KY kyphoscoliosis peptidase
LAMC1 laminin, gamma 1 (formerly LAMB2)
LARGE like-glycosyltransferase
LBX1 ladybird homeobox 1
LMNA lamin A/C
LMNB1 lamin B1
LOX lysyl oxidase
LRP1 low density lipoprotein receptor-related protein 1
MB myoglobin
MEOX2 mesenchyme homeobox 2
MET MET proto-oncogene, receptor tyrosine kinase
MMP9 matrix metallopeptidase 9
MNX1 motor neuron and pancreas homeobox 1
MSTN myostatin
MTM1 myotubularin 1
MUSK muscle, skeletal, receptor tyrosine kinase
MYCBP2 MYC binding protein 2, E3 ubiquitin protein ligase
MYF6 myogenic factor 6 (herculin)
MYOF myoferlin
MYOG myogenin (myogenic factor 4)
MYOZ1 myozenin 1
MYT1 myelin transcription factor 1
NFATC3 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3
NMNAT2 nicotinamide nucleotide adenylyltransferase 2
NRG1 neuregulin 1
PAX3 paired box 3
PAX7 paired box 7
PAX9 paired box 9
PBX1 pre-B-cell leukemia homeobox 1
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PLIN1 perilipin 1
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
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
RYR1 ryanodine receptor 1 (skeletal)
SEPN1 selenoprotein N, 1
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SIX1 SIX homeobox 1
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLIT3 slit homolog 3 (Drosophila)
SNAP25 synaptosomal-associated protein, 25kDa
SOX7 SRY (sex determining region Y)-box 7
SSPN sarcospan
STAC3 SH3 and cysteine rich domain 3
TCF15 transcription factor 15 (basic helix-loop-helix)
TGFB1 transforming growth factor, beta 1
TNNT3 troponin T type 3 (skeletal, fast)
TRIM55 tripartite motif containing 55
TRIM63 tripartite motif containing 63, E3 ubiquitin protein ligase
TTN titin
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
ZFPM2 zinc finger protein, FOG family member 2