abnormal nervous system tract morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly in the structure of any bundle of myelinated nerve fibers following a defined path through the brain and/or spinal cord (Mammalian Phenotype Ontology, MP_0000778)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000778
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Genes

129 gene mutations causing the abnormal nervous system tract morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABI2 abl-interactor 2
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ANK2 ankyrin 2, neuronal
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
APP amyloid beta (A4) precursor protein
ARHGAP35 Rho GTPase activating protein 35
ARHGAP5 Rho GTPase activating protein 5
ARX aristaless related homeobox
ATOH7 atonal homolog 7 (Drosophila)
ATR ATR serine/threonine kinase
BHLHE22 basic helix-loop-helix family, member e22
CABLES1 Cdk5 and Abl enzyme substrate 1
CACNB3 calcium channel, voltage-dependent, beta 3 subunit
CANX calnexin
CASP9 caspase 9, apoptosis-related cysteine peptidase
CD81 CD81 molecule
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35)
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3
CHD7 chromodomain helicase DNA binding protein 7
CHN1 chimerin 1
CLCN2 chloride channel, voltage-sensitive 2
CLIP2 CAP-GLY domain containing linker protein 2
CNTNAP2 contactin associated protein-like 2
COMMD3-BMI1 COMMD3-BMI1 readthrough
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DCC DCC netrin 1 receptor
DCLK1 doublecortin-like kinase 1
DHCR7 7-dehydrocholesterol reductase
DRAXIN dorsal inhibitory axon guidance protein
EBF1 early B-cell factor 1
EFNB1 ephrin-B1
EFNB2 ephrin-B2
EFNB3 ephrin-B3
EIF4H eukaryotic translation initiation factor 4H
EMX1 empty spiracles homeobox 1
EMX2 empty spiracles homeobox 2
EN1 engrailed homeobox 1
ENAH enabled homolog (Drosophila)
EPHA4 EPH receptor A4
EPHA8 EPH receptor A8
EPHB1 EPH receptor B1
EPHB2 EPH receptor B2
FBXO45 F-box protein 45
FEZF2 FEZ family zinc finger 2
FGF2 fibroblast growth factor 2 (basic)
FGFR2 fibroblast growth factor receptor 2
FOXC1 forkhead box C1
FYN FYN proto-oncogene, Src family tyrosine kinase
FZD3 frizzled class receptor 3
GALC galactosylceramidase
GAP43 growth associated protein 43
GFAP glial fibrillary acidic protein
GLI3 GLI family zinc finger 3
HESX1 HESX homeobox 1
HOXB13 homeobox B13
HSF1 heat shock transcription factor 1
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HTT huntingtin
ISPD isoprenoid synthase domain containing
ITSN1 intersectin 1 (SH3 domain protein)
KIF1B kinesin family member 1B
KLF7 Kruppel-like factor 7 (ubiquitous)
L1CAM L1 cell adhesion molecule
LHX5 LIM homeobox 5
LRP2 low density lipoprotein receptor-related protein 2
LYNX1 Ly6/neurotoxin 1
MAN2C1 mannosidase, alpha, class 2C, member 1
MAP1B microtubule-associated protein 1B
MAP3K12 mitogen-activated protein kinase kinase kinase 12
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MARCH7 membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase
MARCKS myristoylated alanine-rich protein kinase C substrate
MARCKSL1 MARCKS-like 1
MID1 midline 1
MSI1 musashi RNA-binding protein 1
MSX1 msh homeobox 1
MYCBP2 MYC binding protein 2, E3 ubiquitin protein ligase
NAPA N-ethylmaleimide-sensitive factor attachment protein, alpha
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NFIA nuclear factor I/A
NFIB nuclear factor I/B
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NMNAT2 nicotinamide nucleotide adenylyltransferase 2
NOS2 nitric oxide synthase 2, inducible
NPAS3 neuronal PAS domain protein 3
NPC1 Niemann-Pick disease, type C1
NR2E1 nuclear receptor subfamily 2, group E, member 1
NR2F1 nuclear receptor subfamily 2, group F, member 1
NRP1 neuropilin 1
NRP2 neuropilin 2
NTN1 netrin 1
PAX2 paired box 2
PAX6 paired box 6
PFDN1 prefoldin subunit 1
PITX2 paired-like homeodomain 2
PLXNA4 plexin A4
PRDM8 PR domain containing 8
PURA purine-rich element binding protein A
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
RPGRIP1L RPGRIP1-like
SEMA3B sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B
SEMA3F sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F
SIM1 single-minded family bHLH transcription factor 1
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SUZ12 SUZ12 polycomb repressive complex 2 subunit
TERT telomerase reverse transcriptase
TMEM67 transmembrane protein 67
TOR1A torsin family 1, member A (torsin A)
TSKU tsukushi, small leucine rich proteoglycan
TUBB2B tubulin, beta 2B class IIb
TUBB3 tubulin, beta 3 class III
ULK4 unc-51 like kinase 4
UNC5C unc-5 homolog C (C. elegans)
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VANGL2 VANGL planar cell polarity protein 2
VAX1 ventral anterior homeobox 1
WASF1 WAS protein family, member 1
WDR47 WD repeat domain 47
ZDHHC13 zinc finger, DHHC-type containing 13
ZIC2 Zic family member 2
ZNF423 zinc finger protein 423