abnormal axon morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the single process of a nerve cell that normally conducts impulses away from the cell body (Mammalian Phenotype Ontology, MP_0005404)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005404
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Genes

138 gene mutations causing the abnormal axon morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AATK apoptosis-associated tyrosine kinase
ABCA2 ATP-binding cassette, sub-family A (ABC1), member 2
ABCD2 ATP-binding cassette, sub-family D (ALD), member 2
ADGRG6 adhesion G protein-coupled receptor G6
AFG3L2 AFG3-like AAA ATPase 2
AGA aspartylglucosaminidase
AGRN agrin
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ANK2 ankyrin 2, neuronal
APOE apolipoprotein E
ARSA arylsulfatase A
BACE1 beta-site APP-cleaving enzyme 1
BASP1 brain abundant, membrane attached signal protein 1
C1QA complement component 1, q subcomponent, A chain
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CANX calnexin
CCR10 chemokine (C-C motif) receptor 10
CD47 CD47 molecule
CD86 CD86 molecule
CERS2 ceramide synthase 2
CHP1 calcineurin-like EF-hand protein 1
CLCN2 chloride channel, voltage-sensitive 2
CLCN6 chloride channel, voltage-sensitive 6
CLDN11 claudin 11
CLP1 cleavage and polyadenylation factor I subunit 1
CNTF ciliary neurotrophic factor
CNTNAP1 contactin associated protein 1
DCLK1 doublecortin-like kinase 1
DST dystonin
EFNB1 ephrin-B1
EFNB2 ephrin-B2
EFNB3 ephrin-B3
EGLN3 egl-9 family hypoxia-inducible factor 3
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
EPB41L3 erythrocyte membrane protein band 4.1-like 3
EPHA4 EPH receptor A4
EPHA7 EPH receptor A7
EPHB1 EPH receptor B1
EPHB2 EPH receptor B2
EPHB3 EPH receptor B3
ERBB2IP erbb2 interacting protein
FA2H fatty acid 2-hydroxylase
FEZF2 FEZ family zinc finger 2
FGD4 FYVE, RhoGEF and PH domain containing 4
FIG4 FIG4 phosphoinositide 5-phosphatase
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GAL3ST1 galactose-3-O-sulfotransferase 1
GALC galactosylceramidase
GAN gigaxonin
GAP43 growth associated protein 43
GARS glycyl-tRNA synthetase
GJB1 gap junction protein, beta 1, 32kDa
GLDN gliomedin
GNPAT glyceronephosphate O-acyltransferase
GPM6B glycoprotein M6B
HAPLN2 hyaluronan and proteoglycan link protein 2
HMBS hydroxymethylbilane synthase
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
HSPG2 heparan sulfate proteoglycan 2
IGHMBP2 immunoglobulin mu binding protein 2
IL6 interleukin 6
ISL2 ISL LIM homeobox 2
KEL Kell blood group, metallo-endopeptidase
KIDINS220 kinase D-interacting substrate, 220kDa
KIF2A kinesin heavy chain member 2A
KLC1 kinesin light chain 1
KLK8 kallikrein-related peptidase 8
LAMA4 laminin, alpha 4
LDLR low density lipoprotein receptor
LEPR leptin receptor
LGI4 leucine-rich repeat LGI family, member 4
LMNA lamin A/C
LPAR5 lysophosphatidic acid receptor 5
LPIN1 lipin 1
LRRK2 leucine-rich repeat kinase 2
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
MAG myelin associated glycoprotein
MAN2B1 mannosidase, alpha, class 2B, member 1
MAP1B microtubule-associated protein 1B
MAPT microtubule-associated protein tau
MBP myelin basic protein
MID1 midline 1
MMP24 matrix metallopeptidase 24 (membrane-inserted)
MNX1 motor neuron and pancreas homeobox 1
MPZ myelin protein zero
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
NEFH neurofilament, heavy polypeptide
NEFL neurofilament, light polypeptide
NEFM neurofilament, medium polypeptide
NF2 neurofibromin 2 (merlin)
NFASC neurofascin
NFE2L2 nuclear factor, erythroid 2-like 2
NR2F1 nuclear receptor subfamily 2, group F, member 1
NRCAM neuronal cell adhesion molecule
NRD1 nardilysin (N-arginine dibasic convertase)
PARP10 poly (ADP-ribose) polymerase family, member 10
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PI4K2A phosphatidylinositol 4-kinase type 2 alpha
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLEC plectin
PLP1 proteolipid protein 1
PMP22 peripheral myelin protein 22
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRPH peripherin
PRX periaxin
PSAP prosaposin
PTPN13 protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)
PURA purine-rich element binding protein A
QKI QKI, KH domain containing, RNA binding
SBF2 SET binding factor 2
SCN1B sodium channel, voltage gated, type I beta subunit
SCYL1 SCY1-like 1 (S. cerevisiae)
SEPT7 septin 7
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC17A7 solute carrier family 17 (vesicular glutamate transporter), member 7
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
SNPH syntaphilin
SOX10 SRY (sex determining region Y)-box 10
SPAST spastin
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPTAN1 spectrin, alpha, non-erythrocytic 1
SPTBN4 spectrin, beta, non-erythrocytic 4
TLR3 toll-like receptor 3
TLR4 toll-like receptor 4
TRIM2 tripartite motif containing 2
TRIM32 tripartite motif containing 32
TYROBP TYRO protein tyrosine kinase binding protein
VCAN versican
VEGFA vascular endothelial growth factor A
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)
XK X-linked Kx blood group
ZBTB18 zinc finger and BTB domain containing 18
ZIC5 Zic family member 5
ZNF24 zinc finger protein 24