abnormal neuron number Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the number of the cells of the nervous system that receive, conduct, and transmit impulses (Mammalian Phenotype Ontology, MP_0008946)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008946
Similar Terms
Downloads & Tools

Genes

297 gene mutations causing the abnormal neuron number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACAN aggrecan
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
ADRB2 adrenoceptor beta 2, surface
AFG3L2 AFG3-like AAA ATPase 2
AGTPBP1 ATP/GTP binding protein 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ALG10 ALG10, alpha-1,2-glucosyltransferase
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
ARCN1 archain 1
ARSG arylsulfatase G
ATF2 activating transcription factor 2
ATOH1 atonal homolog 1 (Drosophila)
ATOH7 atonal homolog 7 (Drosophila)
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATXN1 ataxin 1
ATXN7 ataxin 7
B4GALT2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2
BARHL2 BarH-like homeobox 2
BAX BCL2-associated X protein
BCAR3 breast cancer anti-estrogen resistance 3
BCL2 B-cell CLL/lymphoma 2
BDNF brain-derived neurotrophic factor
BHLHE22 basic helix-loop-helix family, member e22
C1QTNF5 C1q and tumor necrosis factor related protein 5
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CADPS2 Ca++-dependent secretion activator 2
CAMK4 calcium/calmodulin-dependent protein kinase IV
CCDC88A coiled-coil domain containing 88A
CDH23 cadherin-related 23
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
CENPJ centromere protein J
CERS1 ceramide synthase 1
CHAT choline O-acetyltransferase
CHD7 chromodomain helicase DNA binding protein 7
CHM choroideremia (Rab escort protein 1)
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLCF1 cardiotrophin-like cytokine factor 1
CLCN3 chloride channel, voltage-sensitive 3
CLDN9 claudin 9
CLN3 ceroid-lipofuscinosis, neuronal 3
CLP1 cleavage and polyadenylation factor I subunit 1
CLRN1 clarin 1
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB1 cyclic nucleotide gated channel beta 1
CNGB3 cyclic nucleotide gated channel beta 3
CNTF ciliary neurotrophic factor
CNTFR ciliary neurotrophic factor receptor
COL11A1 collagen, type XI, alpha 1
COMMD3-BMI1 COMMD3-BMI1 readthrough
CP ceruloplasmin (ferroxidase)
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRLF1 cytokine receptor-like factor 1
CRYBB2 crystallin, beta B2
CSF1 colony stimulating factor 1 (macrophage)
CTNNA2 catenin (cadherin-associated protein), alpha 2
CUX2 cut-like homeobox 2
CYS1 cystin 1
DFNA5 deafness, autosomal dominant 5
DFNB31 deafness, autosomal recessive 31
DLL1 delta-like 1 (Drosophila)
DMRTA2 DMRT-like family A2
DRD2 dopamine receptor D2
DSCAM Down syndrome cell adhesion molecule
DSCAML1 Down syndrome cell adhesion molecule like 1
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
E2F1 E2F transcription factor 1
EBF2 early B-cell factor 2
EGFR epidermal growth factor receptor
EGR3 early growth response 3
EIF4H eukaryotic translation initiation factor 4H
EMX2 empty spiracles homeobox 2
EN1 engrailed homeobox 1
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERBB3 erb-b2 receptor tyrosine kinase 3
ESR2 estrogen receptor 2 (ER beta)
ETV4 ets variant 4
EYA1 EYA transcriptional coactivator and phosphatase 1
FASLG Fas ligand (TNF superfamily, member 6)
FERD3L Fer3-like bHLH transcription factor
FEV FEV (ETS oncogene family)
FEZF2 FEZ family zinc finger 2
FGF2 fibroblast growth factor 2 (basic)
FGF20 fibroblast growth factor 20
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FMR1 fragile X mental retardation 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXG1 forkhead box G1
FOXN4 forkhead box N4
FYN FYN proto-oncogene, Src family tyrosine kinase
FZD4 frizzled class receptor 4
GAL galanin/GMAP prepropeptide
GBX1 gastrulation brain homeobox 1
GDF11 growth differentiation factor 11
GDF15 growth differentiation factor 15
GDNF glial cell derived neurotrophic factor
GDPD5 glycerophosphodiester phosphodiesterase domain containing 5
GFI1 growth factor independent 1 transcription repressor
GFRA1 GDNF family receptor alpha 1
GIGYF2 GRB10 interacting GYF protein 2
GIT1 G protein-coupled receptor kinase interacting ArfGAP 1
GLRA1 glycine receptor, alpha 1
GPHN gephyrin
GRID2 glutamate receptor, ionotropic, delta 2
GUCA1A guanylate cyclase activator 1A (retina)
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
HES1 hes family bHLH transcription factor 1
HES5 hes family bHLH transcription factor 5
HEYL hes-related family bHLH transcription factor with YRPW motif-like
HHAT hedgehog acyltransferase
HIPK2 homeodomain interacting protein kinase 2
HMX2 H6 family homeobox 2
HMX3 H6 family homeobox 3
HOXA2 homeobox A2
HOXB1 homeobox B1
HOXC10 homeobox C10
HR hair growth associated
IFT122 intraflagellar transport 122
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
INSM1 insulinoma-associated 1
IREB2 iron-responsive element binding protein 2
ISLR2 immunoglobulin superfamily containing leucine-rich repeat 2
JAG1 jagged 1
JAG2 jagged 2
KAT6B K(lysine) acetyltransferase 6B
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KIDINS220 kinase D-interacting substrate, 220kDa
KIF1B kinesin family member 1B
KIF5C kinesin family member 5C
KISS1R KISS1 receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KL klotho
KLK6 kallikrein-related peptidase 6
LAMA2 laminin, alpha 2
LAMB2 laminin, beta 2 (laminin S)
LEPR leptin receptor
LHX6 LIM homeobox 6
LIF leukemia inhibitory factor
LIFR leukemia inhibitory factor receptor alpha
LLGL1 lethal giant larvae homolog 1 (Drosophila)
LMX1A LIM homeobox transcription factor 1, alpha
LMX1B LIM homeobox transcription factor 1, beta
LOC102723475 putative uncharacterized protein LOC388820
LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
LYST lysosomal trafficking regulator
MAGOH mago-nashi homolog, proliferation-associated (Drosophila)
MAPT microtubule-associated protein tau
MBD4 methyl-CpG binding domain protein 4
MECP2 methyl CpG binding protein 2
MERTK MER proto-oncogene, tyrosine kinase
MIR96 microRNA 96
MITF microphthalmia-associated transcription factor
MSX1 msh homeobox 1
MYO15A myosin XVA
MYO3A myosin IIIA
MYO6 myosin VI
MYO7A myosin VIIA
NAGLU N-acetylglucosaminidase, alpha
NCOA6 nuclear receptor coactivator 6
NDP Norrie disease (pseudoglioma)
NEFM neurofilament, medium polypeptide
NEUROD1 neuronal differentiation 1
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
NOG noggin
NOTCH1 notch 1
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NR2F1 nuclear receptor subfamily 2, group F, member 1
NR4A2 nuclear receptor subfamily 4, group A, member 2
NR4A3 nuclear receptor subfamily 4, group A, member 3
NRG1 neuregulin 1
NRL neural retina leucine zipper
NTF3 neurotrophin 3
NTF4 neurotrophin 4
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
NXNL1 nucleoredoxin-like 1
NXNL2 nucleoredoxin-like 2
OAT ornithine aminotransferase
OLIG2 oligodendrocyte lineage transcription factor 2
OPA1 optic atrophy 1 (autosomal dominant)
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OTX2 orthodenticle homeobox 2
PANX1 pannexin 1
PARK2 parkin RBR E3 ubiquitin protein ligase
PAX2 paired box 2
PDCD1 programmed cell death 1
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PFDN5 prefoldin subunit 5
PHOX2A paired-like homeobox 2a
PHYH phytanoyl-CoA 2-hydroxylase
PI4K2A phosphatidylinositol 4-kinase type 2 alpha
PITX3 paired-like homeodomain 3
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POU1F1 POU class 1 homeobox 1
POU4F2 POU class 4 homeobox 2
POU4F3 POU class 4 homeobox 3
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRNP prion protein
PRPH2 peripherin 2 (retinal degeneration, slow)
PRX periaxin
PSAP prosaposin
PSEN1 presenilin 1
PTF1A pancreas specific transcription factor, 1a
PTK7 protein tyrosine kinase 7 (inactive)
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PURA purine-rich element binding protein A
PXDN peroxidasin
RD3 retinal degeneration 3
RELN reelin
RET ret proto-oncogene
RHO rhodopsin
RLBP1 retinaldehyde binding protein 1
RND3 Rho family GTPase 3
RORA RAR-related orphan receptor A
RORB RAR-related orphan receptor B
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP1L1 retinitis pigmentosa 1-like 1
RPGR retinitis pigmentosa GTPase regulator
RPL24 ribosomal protein L24
RPL27A ribosomal protein L27a
RS1 retinoschisin 1
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCYL1 SCY1-like 1 (S. cerevisiae)
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SHH sonic hedgehog
SIX1 SIX homeobox 1
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC12A7 solute carrier family 12 (potassium/chloride transporter), member 7
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC26A5 solute carrier family 26 (anion exchanger), member 5
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SMN1 survival of motor neuron 1, telomeric
SMOC1 SPARC related modular calcium binding 1
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SNCG synuclein, gamma (breast cancer-specific protein 1)
SOD1 superoxide dismutase 1, soluble
SOX10 SRY (sex determining region Y)-box 10
SOX2 SRY (sex determining region Y)-box 2
SPP1 secreted phosphoprotein 1
SPRY2 sprouty homolog 2 (Drosophila)
SQSTM1 sequestosome 1
SRRM4 serine/arginine repetitive matrix 4
STAM signal transducing adaptor molecule (SH3 domain and ITAM motif) 1
STRA6 stimulated by retinoic acid 6
SUMF1 sulfatase modifying factor 1
TGFB2 transforming growth factor, beta 2
THRB thyroid hormone receptor, beta
TMPRSS3 transmembrane protease, serine 3
TNIK TRAF2 and NCK interacting kinase
TP73 tumor protein p73
TRIB2 tribbles pseudokinase 2
TRIM2 tripartite motif containing 2
TRPC3 transient receptor potential cation channel, subfamily C, member 3
TSHR thyroid stimulating hormone receptor
TUB tubby bipartite transcription factor
TUBA1A tubulin, alpha 1a
TULP1 tubby like protein 1
TYR tyrosinase
UNC5A unc-5 homolog A (C. elegans)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VANGL2 VANGL planar cell polarity protein 2
VEGFA vascular endothelial growth factor A
VIM vimentin
VLDLR very low density lipoprotein receptor
ZBTB18 zinc finger and BTB domain containing 18
ZDHHC13 zinc finger, DHHC-type containing 13
ZDHHC17 zinc finger, DHHC-type containing 17
ZIC2 Zic family member 2
ZNF423 zinc finger protein 423