abnormal spinal cord morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the cylindrical tissue of the vertebral canal that extends from the medulla oblongata to the conus medullaris (Mammalian Phenotype Ontology, MP_0000955)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000955
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Genes

218 gene mutations causing the abnormal spinal cord morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ACAN aggrecan
AFG3L2 AFG3-like AAA ATPase 2
ALCAM activated leukocyte cell adhesion molecule
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AMBRA1 autophagy/beclin-1 regulator 1
APAF1 apoptotic peptidase activating factor 1
AR androgen receptor
ASCL1 achaete-scute family bHLH transcription factor 1
ATCAY ataxia, cerebellar, Cayman type
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATRN attractin
BAX BCL2-associated X protein
BCL2 B-cell CLL/lymphoma 2
BHLHE22 basic helix-loop-helix family, member e22
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CACNG2 calcium channel, voltage-dependent, gamma subunit 2
CANX calnexin
CDK5 cyclin-dependent kinase 5
CHAT choline O-acetyltransferase
CHN1 chimerin 1
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLCF1 cardiotrophin-like cytokine factor 1
CLCN2 chloride channel, voltage-sensitive 2
CLIP3 CAP-GLY domain containing linker protein 3
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CLP1 cleavage and polyadenylation factor I subunit 1
CNTF ciliary neurotrophic factor
CNTFR ciliary neurotrophic factor receptor
CNTN2 contactin 2 (axonal)
CP ceruloplasmin (ferroxidase)
CREBBP CREB binding protein
CRLF1 cytokine receptor-like factor 1
CTF1 cardiotrophin 1
CTSF cathepsin F
CUX2 cut-like homeobox 2
CXCR2 chemokine (C-X-C motif) receptor 2
DBX1 developing brain homeobox 1
DCC DCC netrin 1 receptor
DCTN1 dynactin 1
DISP1 dispatched homolog 1 (Drosophila)
DLL1 delta-like 1 (Drosophila)
DOCK3 dedicator of cytokinesis 3
DRAXIN dorsal inhibitory axon guidance protein
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
ECEL1 endothelin converting enzyme-like 1
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
EFNB3 ephrin-B3
EGR2 early growth response 2
EGR3 early growth response 3
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPHA4 EPH receptor A4
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB3 erb-b2 receptor tyrosine kinase 3
ERBB4 erb-b2 receptor tyrosine kinase 4
ETV4 ets variant 4
EVX1 even-skipped homeobox 1
FBXO45 F-box protein 45
FGF2 fibroblast growth factor 2 (basic)
FGFRL1 fibroblast growth factor receptor-like 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP8 FK506 binding protein 8, 38kDa
FOXC1 forkhead box C1
FRZB frizzled-related protein
FUZ fuzzy planar cell polarity protein
FZD3 frizzled class receptor 3
GALC galactosylceramidase
GAN gigaxonin
GBX1 gastrulation brain homeobox 1
GBX2 gastrulation brain homeobox 2
GDF11 growth differentiation factor 11
GDF15 growth differentiation factor 15
GDF7 growth differentiation factor 7
GDNF glial cell derived neurotrophic factor
GDPD5 glycerophosphodiester phosphodiesterase domain containing 5
GFRA1 GDNF family receptor alpha 1
GIGYF2 GRB10 interacting GYF protein 2
GLI2 GLI family zinc finger 2
GLRB glycine receptor, beta
GPHN gephyrin
GRIA1 glutamate receptor, ionotropic, AMPA 1
GRIA2 glutamate receptor, ionotropic, AMPA 2
HEXB hexosaminidase B (beta polypeptide)
HHAT hedgehog acyltransferase
HOXB13 homeobox B13
HOXB8 homeobox B8
HOXC10 homeobox C10
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HTRA2 HtrA serine peptidase 2
IFT122 intraflagellar transport 122
IFT172 intraflagellar transport 172
IFT57 intraflagellar transport 57
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGHMBP2 immunoglobulin mu binding protein 2
INTU inturned planar cell polarity protein
ISL1 ISL LIM homeobox 1
ISL2 ISL LIM homeobox 2
ISLR2 immunoglobulin superfamily containing leucine-rich repeat 2
ISPD isoprenoid synthase domain containing
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNN2 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2
KIDINS220 kinase D-interacting substrate, 220kDa
KIF14 kinesin family member 14
KIF1B kinesin family member 1B
KIF3A kinesin family member 3A
KIF3B kinesin family member 3B
KIF5A kinesin family member 5A
KIF5C kinesin family member 5C
KIF7 kinesin family member 7
KISS1R KISS1 receptor
KLC1 kinesin light chain 1
L1CAM L1 cell adhesion molecule
LAMA2 laminin, alpha 2
LATS2 large tumor suppressor kinase 2
LBX1 ladybird homeobox 1
LEPR leptin receptor
LHX1 LIM homeobox 1
LIF leukemia inhibitory factor
LIFR leukemia inhibitory factor receptor alpha
LMNB1 lamin B1
LMX1B LIM homeobox transcription factor 1, beta
LRP4 low density lipoprotein receptor-related protein 4
LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
LTN1 listerin E3 ubiquitin protein ligase 1
MANBA mannosidase, beta A, lysosomal
MAOA monoamine oxidase A
MARCH7 membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase
MBD4 methyl-CpG binding domain protein 4
MET MET proto-oncogene, receptor tyrosine kinase
MMP24 matrix metallopeptidase 24 (membrane-inserted)
MNX1 motor neuron and pancreas homeobox 1
MUSK muscle, skeletal, receptor tyrosine kinase
MYCBP2 MYC binding protein 2, E3 ubiquitin protein ligase
MYH10 myosin, heavy chain 10, non-muscle
NAPA N-ethylmaleimide-sensitive factor attachment protein, alpha
NEFH neurofilament, heavy polypeptide
NEFM neurofilament, medium polypeptide
NEUROG2 neurogenin 2
NFIA nuclear factor I/A
NGFR nerve growth factor receptor
NKX2-2 NK2 homeobox 2
NKX2-8 NK2 homeobox 8
NKX6-1 NK6 homeobox 1
NMNAT2 nicotinamide nucleotide adenylyltransferase 2
NOG noggin
NOS1 nitric oxide synthase 1 (neuronal)
NOVA1 neuro-oncological ventral antigen 1
NPR2 natriuretic peptide receptor 2
NRG1 neuregulin 1
NRP2 neuropilin 2
NTF3 neurotrophin 3
NTN1 netrin 1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
OLIG2 oligodendrocyte lineage transcription factor 2
PAK4 p21 protein (Cdc42/Rac)-activated kinase 4
PAX3 paired box 3
PAX6 paired box 6
PCSK5 proprotein convertase subtilisin/kexin type 5
PDE4B phosphodiesterase 4B, cAMP-specific
PEX7 peroxisomal biogenesis factor 7
PHOX2A paired-like homeobox 2a
PHOX2B paired-like homeobox 2b
PIKFYVE phosphoinositide kinase, FYVE finger containing
PIP5K1C phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
PITPNA phosphatidylinositol transfer protein, alpha
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PSAP prosaposin
PSEN1 presenilin 1
PTF1A pancreas specific transcription factor, 1a
PTK7 protein tyrosine kinase 7 (inactive)
RAB23 RAB23, member RAS oncogene family
REEP1 receptor accessory protein 1
RET ret proto-oncogene
RFX4 regulatory factor X, 4 (influences HLA class II expression)
RND3 Rho family GTPase 3
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila)
RUNX3 runt-related transcription factor 3
SCYL1 SCY1-like 1 (S. cerevisiae)
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SHH sonic hedgehog
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SMAD5 SMAD family member 5
SMN1 survival of motor neuron 1, telomeric
SMO smoothened, frizzled class receptor
SORT1 sortilin 1
SOX10 SRY (sex determining region Y)-box 10
SOX2 SRY (sex determining region Y)-box 2
SUZ12 SUZ12 polycomb repressive complex 2 subunit
T T, brachyury homolog (mouse)
TBCE tubulin folding cofactor E
TENM4 teneurin transmembrane protein 4
TK2 thymidine kinase 2, mitochondrial
TLX3 T-cell leukemia homeobox 3
TOP2B topoisomerase (DNA) II beta 180kDa
TOR1A torsin family 1, member A (torsin A)
TTPA tocopherol (alpha) transfer protein
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UNC5A unc-5 homolog A (C. elegans)
UNC5C unc-5 homolog C (C. elegans)
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VCP valosin containing protein
VEGFA vascular endothelial growth factor A
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)
VSX2 visual system homeobox 2
WNT3A wingless-type MMTV integration site family, member 3A
ZIC2 Zic family member 2
ZNF24 zinc finger protein 24