abnormal spinal nerve morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the any of the 31 paired peripheral nerves formed by the union of the dorsal and ventral spinal roots from each spinal cord segment (Mammalian Phenotype Ontology, MP_0001077)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001077
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Genes

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

Symbol Name
ADGRG6 adhesion G protein-coupled receptor G6
AGTPBP1 ATP/GTP binding protein 1
AIRE autoimmune regulator
ALPL alkaline phosphatase, liver/bone/kidney
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
APOE apolipoprotein E
BAX BCL2-associated X protein
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CD86 CD86 molecule
CHAT choline O-acetyltransferase
CHN1 chimerin 1
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLIP3 CAP-GLY domain containing linker protein 3
CLP1 cleavage and polyadenylation factor I subunit 1
CUX2 cut-like homeobox 2
DLL1 delta-like 1 (Drosophila)
DLL3 delta-like 3 (Drosophila)
DOCK3 dedicator of cytokinesis 3
DST dystonin
EBF2 early B-cell factor 2
ECEL1 endothelin converting enzyme-like 1
EDNRB endothelin receptor type B
EGR2 early growth response 2
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB3 erb-b2 receptor tyrosine kinase 3
ETV1 ets variant 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GALC galactosylceramidase
GAN gigaxonin
GARS glycyl-tRNA synthetase
GDNF glial cell derived neurotrophic factor
GFRA1 GDNF family receptor alpha 1
GLRB glycine receptor, beta
HOXA10 homeobox A10
HOXB8 homeobox B8
HOXD10 homeobox D10
HOXD3 homeobox D3
LAMA4 laminin, alpha 4
LARGE like-glycosyltransferase
LBX1 ladybird homeobox 1
LGI4 leucine-rich repeat LGI family, member 4
LMNA lamin A/C
LMNB1 lamin B1
LPAR1 lysophosphatidic acid receptor 1
LPIN1 lipin 1
LRP4 low density lipoprotein receptor-related protein 4
MECOM MDS1 and EVI1 complex locus
MEGF8 multiple EGF-like-domains 8
MTMR2 myotubularin related protein 2
MYCBP2 MYC binding protein 2, E3 ubiquitin protein ligase
NEFH neurofilament, heavy polypeptide
NEFL neurofilament, light polypeptide
NEFM neurofilament, medium polypeptide
NFASC neurofascin
NGFR nerve growth factor receptor
NRARP NOTCH-regulated ankyrin repeat protein
NRD1 nardilysin (N-arginine dibasic convertase)
NRG1 neuregulin 1
NRP1 neuropilin 1
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLXNA4 plexin A4
POU3F1 POU class 3 homeobox 1
PSAP prosaposin
RND3 Rho family GTPase 3
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RUNX3 runt-related transcription factor 3
SCARB2 scavenger receptor class B, member 2
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC5A3 solute carrier family 5 (sodium/myo-inositol cotransporter), member 3
SMAD1 SMAD family member 1
SOX10 SRY (sex determining region Y)-box 10
SPTBN4 spectrin, beta, non-erythrocytic 4
TBCE tubulin folding cofactor E
TBX18 T-box 18
UNC5C unc-5 homolog C (C. elegans)
UNCX UNC homeobox
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VCL vinculin
VEGFA vascular endothelial growth factor A
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)