neuron degeneration Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description a retrogressive impairment of function or destruction of the functional cells of the nervous system that receive, conduct, and transmit impulses (Mammalian Phenotype Ontology, MP_0003224)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003224
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Genes

247 gene mutations causing the neuron degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AARS alanyl-tRNA synthetase
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCD2 ATP-binding cassette, sub-family D (ALD), member 2
ADGRV1 adhesion G protein-coupled receptor V1
AFF1 AF4/FMR2 family, member 1
AGA aspartylglucosaminidase
AGTPBP1 ATP/GTP binding protein 1
AHI1 Abelson helper integration site 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ALG10 ALG10, alpha-1,2-glucosyltransferase
ANK1 ankyrin 1, erythrocytic
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
APAF1 apoptotic peptidase activating factor 1
APOE apolipoprotein E
AR androgen receptor
ARCN1 archain 1
ARSA arylsulfatase A
ASIC3 acid sensing (proton gated) ion channel 3
ATCAY ataxia, cerebellar, Cayman type
ATM ATM serine/threonine kinase
ATOH1 atonal homolog 1 (Drosophila)
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
ATXN7 ataxin 7
BARHL1 BarH-like homeobox 1
BCL2 B-cell CLL/lymphoma 2
C1QTNF5 C1q and tumor necrosis factor related protein 5
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CASP3 caspase 3, apoptosis-related cysteine peptidase
CAV1 caveolin 1, caveolae protein, 22kDa
CCDC66 coiled-coil domain containing 66
CCL13 chemokine (C-C motif) ligand 13
CCR2 chemokine (C-C motif) receptor 2
CDH23 cadherin-related 23
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CEP290 centrosomal protein 290kDa
CERS1 ceramide synthase 1
CHM choroideremia (Rab escort protein 1)
CHP1 calcineurin-like EF-hand protein 1
CLCN2 chloride channel, voltage-sensitive 2
CLCN3 chloride channel, voltage-sensitive 3
CLCN7 chloride channel, voltage-sensitive 7
CLDN11 claudin 11
CLDN14 claudin 14
CLDN9 claudin 9
CLIC5 chloride intracellular channel 5
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CLP1 cleavage and polyadenylation factor I subunit 1
CNGB1 cyclic nucleotide gated channel beta 1
CNGB3 cyclic nucleotide gated channel beta 3
CNTF ciliary neurotrophic factor
COMMD3-BMI1 COMMD3-BMI1 readthrough
CP ceruloplasmin (ferroxidase)
CROCC ciliary rootlet coiled-coil, rootletin
CRX cone-rod homeobox
CTF1 cardiotrophin 1
CTSD cathepsin D
DCTN1 dynactin 1
DFNB31 deafness, autosomal recessive 31
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DST dystonin
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EDARADD EDAR-associated death domain
EDNRB endothelin receptor type B
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
ELOVL4 ELOVL fatty acid elongase 4
EN1 engrailed homeobox 1
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
ERBB3 erb-b2 receptor tyrosine kinase 3
ERCC8 excision repair cross-complementation group 8
ESPN espin
ESR2 estrogen receptor 2 (ER beta)
FASLG Fas ligand (TNF superfamily, member 6)
FBXO2 F-box protein 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FLT1 fms-related tyrosine kinase 1
FSHR follicle stimulating hormone receptor
FZD4 frizzled class receptor 4
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5
GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GATA3 GATA binding protein 3
GFI1 growth factor independent 1 transcription repressor
GIGYF2 GRB10 interacting GYF protein 2
GJA10 gap junction protein, alpha 10, 62kDa
GJB6 gap junction protein, beta 6, 30kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLB1 galactosidase, beta 1
GNGT1 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPHN gephyrin
GPR37 G protein-coupled receptor 37 (endothelin receptor type B-like)
GPX1 glutathione peroxidase 1
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRID1 glutamate receptor, ionotropic, delta 1
GRID2 glutamate receptor, ionotropic, delta 2
GRK1 G protein-coupled receptor kinase 1
GRXCR1 glutaredoxin, cysteine rich 1
GUCA1A guanylate cyclase activator 1A (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
HEXB hexosaminidase B (beta polypeptide)
HPCA hippocalcin
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HTRA2 HtrA serine peptidase 2
HTT huntingtin
IDUA iduronidase, alpha-L-
IGHMBP2 immunoglobulin mu binding protein 2
INPP4A inositol polyphosphate-4-phosphatase, type I, 107kDa
IREB2 iron-responsive element binding protein 2
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KCNQ4 potassium channel, voltage gated KQT-like subfamily Q, member 4
KIF1A kinesin family member 1A
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KL klotho
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LHFPL5 lipoma HMGIC fusion partner-like 5
LOC102723475 putative uncharacterized protein LOC388820
LOXHD1 lipoxygenase homology domains 1
LPCAT1 lysophosphatidylcholine acyltransferase 1
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRP5 low density lipoprotein receptor-related protein 5
LRP8 low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
LTN1 listerin E3 ubiquitin protein ligase 1
LYNX1 Ly6/neurotoxin 1
MAN2C1 mannosidase, alpha, class 2C, member 1
MARVELD2 MARVEL domain containing 2
MAVS mitochondrial antiviral signaling protein
MCOLN3 mucolipin 3
MERTK MER proto-oncogene, tyrosine kinase
MFRP membrane frizzled-related protein
MFSD8 major facilitator superfamily domain containing 8
MIR96 microRNA 96
MITF microphthalmia-associated transcription factor
MPV17 MpV17 mitochondrial inner membrane protein
MPZ myelin protein zero
MSRB3 methionine sulfoxide reductase B3
MYO3A myosin IIIA
MYO6 myosin VI
MYO7A myosin VIIA
NAGLU N-acetylglucosaminidase, alpha
NDP Norrie disease (pseudoglioma)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NGFR nerve growth factor receptor
NOS2 nitric oxide synthase 2, inducible
NPAS4 neuronal PAS domain protein 4
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPHP4 nephronophthisis 4
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
PARK2 parkin RBR E3 ubiquitin protein ligase
PAX8 paired box 8
PCDH15 protocadherin-related 15
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime
PEX1 peroxisomal biogenesis factor 1
PEX13 peroxisomal biogenesis factor 13
PFDN5 prefoldin subunit 5
PITPNA phosphatidylinositol transfer protein, alpha
POLG polymerase (DNA directed), gamma
POU4F2 POU class 4 homeobox 2
POU4F3 POU class 4 homeobox 3
PPT1 palmitoyl-protein thioesterase 1
PRNP prion protein
PROM1 prominin 1
PRSS56 protease, serine, 56
PSAP prosaposin
PSEN1 presenilin 1
PTPRQ protein tyrosine phosphatase, receptor type, Q
QKI QKI, KH domain containing, RNA binding
RBP3 retinol binding protein 3, interstitial
RD3 retinal degeneration 3
RDX radixin
RELN reelin
RHO rhodopsin
ROM1 retinal outer segment membrane protein 1
RORA RAR-related orphan receptor A
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP1L1 retinitis pigmentosa 1-like 1
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
S1PR2 sphingosine-1-phosphate receptor 2
SBF2 SET binding factor 2
SCARB2 scavenger receptor class B, member 2
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCYL1 SCY1-like 1 (S. cerevisiae)
SIL1 SIL1 nucleotide exchange factor
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC12A7 solute carrier family 12 (potassium/chloride transporter), member 7
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
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
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SORL1 sortilin-related receptor, L(DLR class) A repeats containing
SOX10 SRY (sex determining region Y)-box 10
SOX2 SRY (sex determining region Y)-box 2
SPTBN2 spectrin, beta, non-erythrocytic 2
SRRM4 serine/arginine repetitive matrix 4
STAMBP STAM binding protein
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
STXBP1 syntaxin binding protein 1
SUN1 Sad1 and UNC84 domain containing 1
SYNE4 spectrin repeat containing, nuclear envelope family member 4
SYNJ2 synaptojanin 2
TBCE tubulin folding cofactor E
THRB thyroid hormone receptor, beta
TMC1 transmembrane channel-like 1
TMIE transmembrane inner ear
TMPRSS3 transmembrane protease, serine 3
TPP1 tripeptidyl peptidase I
TRIM2 tripartite motif containing 2
TUB tubby bipartite transcription factor
TULP1 tubby like protein 1
UBB ubiquitin B
UBE4B ubiquitination factor E4B
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VCP valosin containing protein
VEGFA vascular endothelial growth factor A
VEGFB vascular endothelial growth factor B
VIM vimentin
VLDLR very low density lipoprotein receptor
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)