abnormal skeletal muscle mass Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the physical bulk, or total amount of matter contained within skeletal muscle (Mammalian Phenotype Ontology, MP_0004817)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004817
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Genes

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

Symbol Name
AGRN agrin
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AR androgen receptor
BARX2 BARX homeobox 2
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)
CHAT choline O-acetyltransferase
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CLCN1 chloride channel, voltage-sensitive 1
CLP1 cleavage and polyadenylation factor I subunit 1
COL12A1 collagen, type XII, alpha 1
COL6A3 collagen, type VI, alpha 3
DES desmin
DLL1 delta-like 1 (Drosophila)
DMD dystrophin
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DNM2 dynamin 2
DOCK1 dedicator of cytokinesis 1
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4
ERCC1 excision repair cross-complementation group 1
FBN2 fibrillin 2
FLNC filamin C, gamma
FOXN1 forkhead box N1
FST follistatin
GAA glucosidase, alpha; acid
GAB1 GRB2-associated binding protein 1
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HOXC10 homeobox C10
HRC histidine rich calcium binding protein
HSPG2 heparan sulfate proteoglycan 2
IGHMBP2 immunoglobulin mu binding protein 2
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)
LAMC1 laminin, gamma 1 (formerly LAMB2)
LBX1 ladybird homeobox 1
LDB3 LIM domain binding 3
LEP leptin
MCOLN1 mucolipin 1
MEOX2 mesenchyme homeobox 2
MET MET proto-oncogene, receptor tyrosine kinase
MSTN myostatin
MTM1 myotubularin 1
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MUSK muscle, skeletal, receptor tyrosine kinase
MYH1 myosin, heavy chain 1, skeletal muscle, adult
MYH4 myosin, heavy chain 4, skeletal muscle
MYOG myogenin (myogenic factor 4)
NACA nascent polypeptide-associated complex alpha subunit
NDRG1 N-myc downstream regulated 1
NF1 neurofibromin 1
NMNAT2 nicotinamide nucleotide adenylyltransferase 2
NOS1 nitric oxide synthase 1 (neuronal)
NOTCH3 notch 3
PARL presenilin associated, rhomboid-like
PAX7 paired box 7
PCSK1 proprotein convertase subtilisin/kexin type 1
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
POLG polymerase (DNA directed), gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RYR1 ryanodine receptor 1 (skeletal)
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCYL1 SCY1-like 1 (S. cerevisiae)
SEC61A1 Sec61 alpha 1 subunit (S. cerevisiae)
SEPN1 selenoprotein N, 1
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
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
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
SOD2 superoxide dismutase 2, mitochondrial
SRPK3 SRSF protein kinase 3
TBX15 T-box 15
TCAP titin-cap
TCF15 transcription factor 15 (basic helix-loop-helix)
TP53 tumor protein p53
TRAF2 TNF receptor-associated factor 2
TRDN triadin
TRIM55 tripartite motif containing 55
TTN titin
TTPA tocopherol (alpha) transfer protein
UBR1 ubiquitin protein ligase E3 component n-recognin 1
VCP valosin containing protein
VEGFA vascular endothelial growth factor A
WASF1 WAS protein family, member 1
WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1
WFIKKN2 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2