scoliosis Gene Set
Genes
34 gene mutations causing the scoliosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.
| Symbol |
Name |
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
CENPJ
|
centromere protein J
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
CREB3L1
|
cAMP responsive element binding protein 3-like 1
|
|
CREBBP
|
CREB binding protein
|
|
CSRP2BP
|
CSRP2 binding protein
|
|
DVL2
|
dishevelled segment polarity protein 2
|
|
EGR3
|
early growth response 3
|
|
EHD1
|
EH-domain containing 1
|
|
ENPP1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FKBP8
|
FK506 binding protein 8, 38kDa
|
|
FLNB
|
filamin B, beta
|
|
GATM
|
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
|
|
KDM4B
|
lysine (K)-specific demethylase 4B
|
|
LAMA2
|
laminin, alpha 2
|
|
LASP1
|
LIM and SH3 protein 1
|
|
LBR
|
lamin B receptor
|
|
LMNB1
|
lamin B1
|
|
MAP3K4
|
mitogen-activated protein kinase kinase kinase 4
|
|
MYSM1
|
Myb-like, SWIRM and MPN domains 1
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
PAX1
|
paired box 1
|
|
PHOSPHO1
|
phosphatase, orphan 1
|
|
SIK3
|
SIK family kinase 3
|
|
SLC39A14
|
solute carrier family 39 (zinc transporter), member 14
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TRAFD1
|
TRAF-type zinc finger domain containing 1
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
UNCX
|
UNC homeobox
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
ZIC3
|
Zic family member 3
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
