decreased skeletal muscle size Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description less than average dimensions of one or more of the muscles of the skeleton (Mammalian Phenotype Ontology, MP_0010240)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010240
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Genes

43 gene mutations causing the decreased 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
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
FST follistatin
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HOXC10 homeobox C10
IGHMBP2 immunoglobulin mu binding protein 2
INSR insulin receptor
ITGA7 integrin, alpha 7
LAMC1 laminin, gamma 1 (formerly LAMB2)
LDB3 LIM domain binding 3
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
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
TCAP titin-cap
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