muscular atrophy Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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69 gene mutations causing the muscular atrophy phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
AFG3L2 AFG3-like AAA ATPase 2
AGRN agrin
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AR androgen receptor
ARHGAP1 Rho GTPase activating protein 1
BARX2 BARX homeobox 2
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle)
CD86 CD86 molecule
CHAT choline O-acetyltransferase
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CLP1 cleavage and polyadenylation factor I subunit 1
CTH cystathionine gamma-lyase
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
DES desmin
DMD dystrophin
DNM2 dynamin 2
DOCK3 dedicator of cytokinesis 3
DST dystonin
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EWSR1 EWS RNA-binding protein 1
FBXO32 F-box protein 32
GAA glucosidase, alpha; acid
GAN gigaxonin
GARS glycyl-tRNA synthetase
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HEXB hexosaminidase B (beta polypeptide)
HNF1A HNF1 homeobox A
HOXB2 homeobox B2
HOXC10 homeobox C10
HTRA2 HtrA serine peptidase 2
IGHMBP2 immunoglobulin mu binding protein 2
ITGA7 integrin, alpha 7
KY kyphoscoliosis peptidase
LAMC1 laminin, gamma 1 (formerly LAMB2)
LDB3 LIM domain binding 3
LMNA lamin A/C
LTN1 listerin E3 ubiquitin protein ligase 1
MTM1 myotubularin 1
MTMR14 myotubularin related protein 14
MYH4 myosin, heavy chain 4, skeletal muscle
NDRG1 N-myc downstream regulated 1
NOTCH3 notch 3
NOV nephroblastoma overexpressed
NTF3 neurotrophin 3
PARL presenilin associated, rhomboid-like
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PSAP prosaposin
RET ret proto-oncogene
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCYL1 SCY1-like 1 (S. cerevisiae)
SEPN1 selenoprotein N, 1
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
TBCE tubulin folding cofactor E
TCAP titin-cap
TP53 tumor protein p53
TRIM63 tripartite motif containing 63, E3 ubiquitin protein ligase
TTN titin
TTPA tocopherol (alpha) transfer protein
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VEGFA vascular endothelial growth factor A
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)
WASF1 WAS protein family, member 1
ZDHHC13 zinc finger, DHHC-type containing 13