abnormal spinal reflex Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the reflexive action mediated by cells of the spinal cord, or the involuntary movement reaction caused by the application of a stimulus to an organism; these include signals originating from heat from burning, sharp sensations, and other painful feelings (Mammalian Phenotype Ontology, MP_0012079)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0012079
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Genes

88 gene mutations causing the abnormal spinal reflex phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ADCY1 adenylate cyclase 1 (brain)
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
ARHGEF4 Rho guanine nucleotide exchange factor (GEF) 4
ASIC3 acid sensing (proton gated) ion channel 3
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
B9D1 B9 protein domain 1
BAMBI BMP and activin membrane-bound inhibitor
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1B calcium channel, voltage-dependent, N type, alpha 1B subunit
CCKBR cholecystokinin B receptor
CCNYL1 cyclin Y-like 1
CD274 CD274 molecule
CDH23 cadherin-related 23
CDK5 cyclin-dependent kinase 5
CLK1 CDC-like kinase 1
CLP1 cleavage and polyadenylation factor I subunit 1
CPE carboxypeptidase E
DLG2 discs, large homolog 2 (Drosophila)
DST dystonin
ELMOD1 ELMO/CED-12 domain containing 1
ERBB2IP erbb2 interacting protein
ERBB3 erb-b2 receptor tyrosine kinase 3
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
FBXL3 F-box and leucine-rich repeat protein 3
FGF11 fibroblast growth factor 11
FLNC filamin C, gamma
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2
GABRR1 gamma-aminobutyric acid (GABA) A receptor, rho 1
HOXB13 homeobox B13
KCND2 potassium channel, voltage gated Shal related subfamily D, member 2
KCNIP3 Kv channel interacting protein 3, calsenilin
KCNJ16 potassium channel, inwardly rectifying subfamily J, member 16
KDM8 lysine (K)-specific demethylase 8
KIF1A kinesin family member 1A
KIF1B kinesin family member 1B
KLF7 Kruppel-like factor 7 (ubiquitous)
L1CAM L1 cell adhesion molecule
LPAR5 lysophosphatidic acid receptor 5
MADD MAP-kinase activating death domain
MAP1B microtubule-associated protein 1B
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MAPK6 mitogen-activated protein kinase 6
MGLL monoglyceride lipase
MRGPRD MAS-related GPR, member D
MRPS35 mitochondrial ribosomal protein S35
MUSK muscle, skeletal, receptor tyrosine kinase
MYO6 myosin VI
MYOG myogenin (myogenic factor 4)
NBEA neurobeachin
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NOS2 nitric oxide synthase 2, inducible
NRG1 neuregulin 1
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
PCSK2 proprotein convertase subtilisin/kexin type 2
PDYN prodynorphin
PITX3 paired-like homeodomain 3
PROKR1 prokineticin receptor 1
PRX periaxin
PTPRG protein tyrosine phosphatase, receptor type, G
RNF7 ring finger protein 7
RYR1 ryanodine receptor 1 (skeletal)
SHANK3 SH3 and multiple ankyrin repeat domains 3
SLC17A7 solute carrier family 17 (vesicular glutamate transporter), member 7
SLC38A10 solute carrier family 38, member 10
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SLC6A9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SMN1 survival of motor neuron 1, telomeric
SNAP25 synaptosomal-associated protein, 25kDa
SOX10 SRY (sex determining region Y)-box 10
SPP1 secreted phosphoprotein 1
STOML3 stomatin (EPB72)-like 3
TACR1 tachykinin receptor 1
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TMC1 transmembrane channel-like 1
TMEM68 transmembrane protein 68
TRPA1 transient receptor potential cation channel, subfamily A, member 1
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSHZ3 teashirt zinc finger homeobox 3
XBP1 X-box binding protein 1
XYLB xylulokinase homolog (H. influenzae)