abnormal skeletal muscle size Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the size of the striated muscle fibers connected at either or both extremities with the bony framework of the body (Mammalian Phenotype Ontology, MP_0009458)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009458
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Genes

52 gene mutations causing the abnormal skeletal muscle size 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
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CHAT choline O-acetyltransferase
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CLP1 cleavage and polyadenylation factor I subunit 1
COL12A1 collagen, type XII, alpha 1
COL6A3 collagen, type VI, alpha 3
DES desmin
DMD dystrophin
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
FST follistatin
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HOXC10 homeobox C10
HSPG2 heparan sulfate proteoglycan 2
IGHMBP2 immunoglobulin mu binding protein 2
INHBA inhibin, beta A
INHBB inhibin, beta B
INSR insulin receptor
ITGA7 integrin, alpha 7
LAMC1 laminin, gamma 1 (formerly LAMB2)
LDB3 LIM domain binding 3
MSTN myostatin
MTM1 myotubularin 1
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYH4 myosin, heavy chain 4, skeletal muscle
NDRG1 N-myc downstream regulated 1
NF1 neurofibromin 1
NOS1 nitric oxide synthase 1 (neuronal)
NOTCH3 notch 3
PAX7 paired box 7
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SCN4A sodium channel, voltage gated, type IV alpha subunit
SEPN1 selenoprotein N, 1
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
TCAP titin-cap
TCF15 transcription factor 15 (basic helix-loop-helix)
TRDN triadin
TRIM55 tripartite motif containing 55
TTN titin
TTPA tocopherol (alpha) transfer 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