abnormal spinal cord grey matter morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the ridge-shaped grey matter of the spinal cord that extends longitudinally through the center of each half of the spinal cord, and are largely or entirely composed of nerve cell bodies and their dendrites and some supportive tissue (Mammalian Phenotype Ontology, MP_0008503)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008503
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Genes

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

Symbol Name
AFG3L2 AFG3-like AAA ATPase 2
ALCAM activated leukocyte cell adhesion molecule
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
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
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
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)
CLCF1 cardiotrophin-like cytokine factor 1
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)
CRLF1 cytokine receptor-like factor 1
CTF1 cardiotrophin 1
CTSF cathepsin F
CUX2 cut-like homeobox 2
DBX1 developing brain homeobox 1
DCTN1 dynactin 1
DLL1 delta-like 1 (Drosophila)
DRAXIN dorsal inhibitory axon guidance protein
DYNC1H1 dynein, cytoplasmic 1, 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
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)
FIG4 FIG4 phosphoinositide 5-phosphatase
FRZB frizzled-related protein
FUZ fuzzy planar cell polarity protein
GAN gigaxonin
GBX1 gastrulation brain homeobox 1
GBX2 gastrulation brain homeobox 2
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
HHAT hedgehog acyltransferase
HOXB8 homeobox B8
HOXC10 homeobox C10
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HTRA2 HtrA serine peptidase 2
IFT122 intraflagellar transport 122
IGF1 insulin-like growth factor 1 (somatomedin C)
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
KIDINS220 kinase D-interacting substrate, 220kDa
KIF1B kinesin family member 1B
KIF5A kinesin family member 5A
KIF5C kinesin family member 5C
KISS1R KISS1 receptor
L1CAM L1 cell adhesion molecule
LBX1 ladybird homeobox 1
LEPR leptin receptor
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
MAOA monoamine oxidase A
MBD4 methyl-CpG binding domain protein 4
MET MET proto-oncogene, receptor tyrosine kinase
MNX1 motor neuron and pancreas homeobox 1
MUSK muscle, skeletal, receptor tyrosine kinase
MYCBP2 MYC binding protein 2, E3 ubiquitin protein ligase
NEFH neurofilament, heavy polypeptide
NEFM neurofilament, medium polypeptide
NEUROG2 neurogenin 2
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
NOS1 nitric oxide synthase 1 (neuronal)
NRG1 neuregulin 1
NTF3 neurotrophin 3
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
OLIG2 oligodendrocyte lineage transcription factor 2
PAK4 p21 protein (Cdc42/Rac)-activated kinase 4
PAX6 paired box 6
PHOX2A paired-like homeobox 2a
PHOX2B paired-like homeobox 2b
PITPNA phosphatidylinositol transfer protein, alpha
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PTF1A pancreas specific transcription factor, 1a
REEP1 receptor accessory protein 1
RET ret proto-oncogene
RFX4 regulatory factor X, 4 (influences HLA class II expression)
RND3 Rho family GTPase 3
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
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SMN1 survival of motor neuron 1, telomeric
SORT1 sortilin 1
SOX10 SRY (sex determining region Y)-box 10
SOX2 SRY (sex determining region Y)-box 2
TBCE tubulin folding cofactor E
TK2 thymidine kinase 2, mitochondrial
TLX3 T-cell leukemia homeobox 3
TOP2B topoisomerase (DNA) II beta 180kDa
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)
VCP valosin containing protein
VEGFA vascular endothelial growth factor A
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)
VSX2 visual system homeobox 2
ZIC2 Zic family member 2