abnormal somatic nervous system morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the part of the peripheral nervous system that is responsible for conveying voluntary motor and external sensory information, including all nerves controlling the skeletal muscular system and external sensory receptors (including balance, smell, sight, taste, touch and hearing sensory inputs) (Mammalian Phenotype Ontology, MP_0002752)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002752
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Genes

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

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCD2 ATP-binding cassette, sub-family D (ALD), member 2
ACAN aggrecan
ACTG1 actin gamma 1
ADCY3 adenylate cyclase 3
ADGRG6 adhesion G protein-coupled receptor G6
ADGRV1 adhesion G protein-coupled receptor V1
ADRB2 adrenoceptor beta 2, surface
AFG3L2 AFG3-like AAA ATPase 2
AGRN agrin
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
AIRE autoimmune regulator
ALCAM activated leukocyte cell adhesion molecule
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ALG10 ALG10, alpha-1,2-glucosyltransferase
ALPL alkaline phosphatase, liver/bone/kidney
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ANK2 ankyrin 2, neuronal
AP3D1 adaptor-related protein complex 3, delta 1 subunit
APOE apolipoprotein E
ARHGAP35 Rho GTPase activating protein 35
ARL3 ADP-ribosylation factor-like 3
ARL6 ADP-ribosylation factor-like 6
ARSA arylsulfatase A
ARTN artemin
ASCL1 achaete-scute family bHLH transcription factor 1
ASIC3 acid sensing (proton gated) ion channel 3
ATF2 activating transcription factor 2
ATF5 activating transcription factor 5
ATOH1 atonal homolog 1 (Drosophila)
ATOH7 atonal homolog 7 (Drosophila)
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
ATXN7 ataxin 7
B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
BACE1 beta-site APP-cleaving enzyme 1
BARHL1 BarH-like homeobox 1
BARHL2 BarH-like homeobox 2
BASP1 brain abundant, membrane attached signal protein 1
BAX BCL2-associated X protein
BBS1 Bardet-Biedl syndrome 1
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BCAR3 breast cancer anti-estrogen resistance 3
BCL2 B-cell CLL/lymphoma 2
BCL2L11 BCL2-like 11 (apoptosis facilitator)
BDNF brain-derived neurotrophic factor
BHLHE22 basic helix-loop-helix family, member e22
BHLHE23 basic helix-loop-helix family, member e23
BMP4 bone morphogenetic protein 4
BMPR1B bone morphogenetic protein receptor, type IB
BSN bassoon presynaptic cytomatrix protein
C1QTNF5 C1q and tumor necrosis factor related protein 5
CABP4 calcium binding protein 4
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CACNB3 calcium channel, voltage-dependent, beta 3 subunit
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CACNG2 calcium channel, voltage-dependent, gamma subunit 2
CALCB calcitonin-related polypeptide beta
CAMK2A calcium/calmodulin-dependent protein kinase II alpha
CASP2 caspase 2, apoptosis-related cysteine peptidase
CASP3 caspase 3, apoptosis-related cysteine peptidase
CCDC66 coiled-coil domain containing 66
CCKAR cholecystokinin A receptor
CCL13 chemokine (C-C motif) ligand 13
CCR2 chemokine (C-C motif) receptor 2
CD86 CD86 molecule
CDH23 cadherin-related 23
CDK5 cyclin-dependent kinase 5
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CEP290 centrosomal protein 290kDa
CERS2 ceramide synthase 2
CFH complement factor H
CHAT choline O-acetyltransferase
CHD7 chromodomain helicase DNA binding protein 7
CHL1 cell adhesion molecule L1-like
CHM choroideremia (Rab escort protein 1)
CHN1 chimerin 1
CHRD chordin
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNA10 cholinergic receptor, nicotinic, alpha 10 (neuronal)
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal)
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CISD2 CDGSH iron sulfur domain 2
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
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
CLIP3 CAP-GLY domain containing linker protein 3
CLN3 ceroid-lipofuscinosis, neuronal 3
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CLP1 cleavage and polyadenylation factor I subunit 1
CLRN1 clarin 1
CNGA2 cyclic nucleotide gated channel alpha 2
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB1 cyclic nucleotide gated channel beta 1
CNGB3 cyclic nucleotide gated channel beta 3
CNTN2 contactin 2 (axonal)
CNTN4 contactin 4
COL11A1 collagen, type XI, alpha 1
COL13A1 collagen, type XIII, alpha 1
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CROCC ciliary rootlet coiled-coil, rootletin
CRX cone-rod homeobox
CSK c-src tyrosine kinase
CTSD cathepsin D
CUX2 cut-like homeobox 2
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1
CYS1 cystin 1
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DCC DCC netrin 1 receptor
DCHS1 dachsous cadherin-related 1
DCTN1 dynactin 1
DFNA5 deafness, autosomal dominant 5
DFNB31 deafness, autosomal recessive 31
DISP1 dispatched homolog 1 (Drosophila)
DLL1 delta-like 1 (Drosophila)
DLL3 delta-like 3 (Drosophila)
DLX1 distal-less homeobox 1
DLX2 distal-less homeobox 2
DLX5 distal-less homeobox 5
DMD dystrophin
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DNASE1L2 deoxyribonuclease I-like 2
DOCK3 dedicator of cytokinesis 3
DOK7 docking protein 7
DSCAM Down syndrome cell adhesion molecule
DSCAML1 Down syndrome cell adhesion molecule like 1
DST dystonin
DTNA dystrobrevin, alpha
DVL3 dishevelled segment polarity protein 3
E2F1 E2F transcription factor 1
EBF2 early B-cell factor 2
EBF3 early B-cell factor 3
ECEL1 endothelin converting enzyme-like 1
EDNRA endothelin receptor type A
EDNRB endothelin receptor type B
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
EFNA2 ephrin-A2
EFNA5 ephrin-A5
EFNB1 ephrin-B1
EFNB2 ephrin-B2
EGFLAM EGF-like, fibronectin type III and laminin G domains
EGFR epidermal growth factor receptor
EGLN3 egl-9 family hypoxia-inducible factor 3
EGR2 early growth response 2
EGR3 early growth response 3
ELMOD1 ELMO/CED-12 domain containing 1
ELOVL4 ELOVL fatty acid elongase 4
EMX2 empty spiracles homeobox 2
EN1 engrailed homeobox 1
EPHA5 EPH receptor A5
EPHB1 EPH receptor B1
EPHB2 EPH receptor B2
EPS8 epidermal growth factor receptor pathway substrate 8
EPS8L2 EPS8-like 2
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB3 erb-b2 receptor tyrosine kinase 3
ERBB4 erb-b2 receptor tyrosine kinase 4
ERC2 ELKS/RAB6-interacting/CAST family member 2
ERCC8 excision repair cross-complementation group 8
ESPN espin
ESR2 estrogen receptor 2 (ER beta)
ETV1 ets variant 1
ETV4 ets variant 4
ETV5 ets variant 5
EYA1 EYA transcriptional coactivator and phosphatase 1
FA2H fatty acid 2-hydroxylase
FASLG Fas ligand (TNF superfamily, member 6)
FAT3 FAT atypical cadherin 3
FAT4 FAT atypical cadherin 4
FBLN1 fibulin 1
FBXO2 F-box protein 2
FBXO45 F-box protein 45
FEZF1 FEZ family zinc finger 1
FEZF2 FEZ family zinc finger 2
FFAR3 free fatty acid receptor 3
FGF10 fibroblast growth factor 10
FGF20 fibroblast growth factor 20
FGF3 fibroblast growth factor 3
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP8 FK506 binding protein 8, 38kDa
FKRP fukutin related protein
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1
FOLR1 folate receptor 1 (adult)
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXC1 forkhead box C1
FOXF2 forkhead box F2
FOXN4 forkhead box N4
FRZB frizzled-related protein
FSCN2 fascin actin-bundling protein 2, retinal
FST follistatin
FYN FYN proto-oncogene, Src family tyrosine kinase
FZD4 frizzled class receptor 4
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
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
GAL galanin/GMAP prepropeptide
GALC galactosylceramidase
GALR2 galanin receptor 2
GAN gigaxonin
GAP43 growth associated protein 43
GARS glycyl-tRNA synthetase
GATA3 GATA binding protein 3
GBX1 gastrulation brain homeobox 1
GBX2 gastrulation brain homeobox 2
GDF11 growth differentiation factor 11
GDF15 growth differentiation factor 15
GDF6 growth differentiation factor 6
GDNF glial cell derived neurotrophic factor
GFI1 growth factor independent 1 transcription repressor
GFRA1 GDNF family receptor alpha 1
GFRA2 GDNF family receptor alpha 2
GFRA3 GDNF family receptor alpha 3
GJA10 gap junction protein, alpha 10, 62kDa
GJB6 gap junction protein, beta 6, 30kDa
GLI3 GLI family zinc finger 3
GLRB glycine receptor, beta
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GNG2 guanine nucleotide binding protein (G protein), gamma 2
GNGT1 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1
GNPAT glyceronephosphate O-acyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPHN gephyrin
GPR143 G protein-coupled receptor 143
GPX1 glutathione peroxidase 1
GRB2 growth factor receptor-bound protein 2
GRID1 glutamate receptor, ionotropic, delta 1
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRK1 G protein-coupled receptor kinase 1
GRXCR1 glutaredoxin, cysteine rich 1
GSX2 GS homeobox 2
GUCA1A guanylate cyclase activator 1A (retina)
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HES1 hes family bHLH transcription factor 1
HES5 hes family bHLH transcription factor 5
HESX1 HESX homeobox 1
HEYL hes-related family bHLH transcription factor with YRPW motif-like
HIPK2 homeodomain interacting protein kinase 2
HIST1H2BJ histone cluster 1, H2bj
HMX2 H6 family homeobox 2
HMX3 H6 family homeobox 3
HOXA1 homeobox A1
HOXA10 homeobox A10
HOXA2 homeobox A2
HOXA3 homeobox A3
HOXB1 homeobox B1
HOXB13 homeobox B13
HOXB2 homeobox B2
HOXB3 homeobox B3
HOXB5 homeobox B5
HOXB6 homeobox B6
HOXB8 homeobox B8
HOXD1 homeobox D1
HOXD10 homeobox D10
HOXD3 homeobox D3
HPN hepsin
HR hair growth associated
HRK harakiri, BCL2 interacting protein
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
HSPG2 heparan sulfate proteoglycan 2
IDUA iduronidase, alpha-L-
IFT27 intraflagellar transport 27
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGHMBP2 immunoglobulin mu binding protein 2
IRX5 iroquois homeobox 5
IRX6 iroquois homeobox 6
ISL1 ISL LIM homeobox 1
ISLR2 immunoglobulin superfamily containing leucine-rich repeat 2
ITGA8 integrin, alpha 8
JAG1 jagged 1
JAG2 jagged 2
KALRN kalirin, RhoGEF kinase
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
KIF14 kinesin family member 14
KIF5C kinesin family member 5C
KIFAP3 kinesin-associated protein 3
KIRREL3 kin of IRRE like 3 (Drosophila)
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLF7 Kruppel-like factor 7 (ubiquitous)
KMT2A lysine (K)-specific methyltransferase 2A
KY kyphoscoliosis peptidase
L1CAM L1 cell adhesion molecule
LAMA2 laminin, alpha 2
LAMA4 laminin, alpha 4
LAMB2 laminin, beta 2 (laminin S)
LAMC3 laminin, gamma 3
LARGE like-glycosyltransferase
LBX1 ladybird homeobox 1
LCA5 Leber congenital amaurosis 5
LDLR low density lipoprotein receptor
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LGALS1 lectin, galactoside-binding, soluble, 1
LGI4 leucine-rich repeat LGI family, member 4
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LHFPL5 lipoma HMGIC fusion partner-like 5
LIFR leukemia inhibitory factor receptor alpha
LMNA lamin A/C
LMNB1 lamin B1
LMO4 LIM domain only 4
LMO7 LIM domain 7
LMX1A LIM homeobox transcription factor 1, alpha
LMX1B LIM homeobox transcription factor 1, beta
LOC102723475 putative uncharacterized protein LOC388820
LOXHD1 lipoxygenase homology domains 1
LPAR1 lysophosphatidic acid receptor 1
LPCAT1 lysophosphatidylcholine acyltransferase 1
LPIN1 lipin 1
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
LRP6 low density lipoprotein receptor-related protein 6
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
MADD MAP-kinase activating death domain
MAL mal, T-cell differentiation protein
MAN2B1 mannosidase, alpha, class 2B, member 1
MAP3K12 mitogen-activated protein kinase kinase kinase 12
MAPK10 mitogen-activated protein kinase 10
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MARVELD2 MARVEL domain containing 2
MCOLN1 mucolipin 1
MCOLN3 mucolipin 3
MDM1 Mdm1 nuclear protein homolog (mouse)
MECOM MDS1 and EVI1 complex locus
MEGF10 multiple EGF-like-domains 10
MEGF11 multiple EGF-like-domains 11
MEGF8 multiple EGF-like-domains 8
MERTK MER proto-oncogene, tyrosine kinase
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MET MET proto-oncogene, receptor tyrosine kinase
MFRP membrane frizzled-related protein
MFSD8 major facilitator superfamily domain containing 8
MIR96 microRNA 96
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP3 matrix metallopeptidase 3
MNX1 motor neuron and pancreas homeobox 1
MPP4 membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)
MPV17 MpV17 mitochondrial inner membrane protein
MSGN1 mesogenin 1
MSRB3 methionine sulfoxide reductase B3
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MTERF4 mitochondrial transcription termination factor 4
MTMR2 myotubularin related protein 2
MUSK muscle, skeletal, receptor tyrosine kinase
MYCBP2 MYC binding protein 2, E3 ubiquitin protein ligase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH10 myosin, heavy chain 10, non-muscle
MYO15A myosin XVA
MYO3A myosin IIIA
MYO6 myosin VI
MYO7A myosin VIIA
NAGLU N-acetylglucosaminidase, alpha
NAV2 neuron navigator 2
NDN necdin, melanoma antigen (MAGE) family member
NDP Norrie disease (pseudoglioma)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NEFH neurofilament, heavy polypeptide
NEFL neurofilament, light polypeptide
NEFM neurofilament, medium polypeptide
NEO1 neogenin 1
NES nestin
NEUROD1 neuronal differentiation 1
NEUROG1 neurogenin 1
NEUROG2 neurogenin 2
NFASC neurofascin
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NGF nerve growth factor (beta polypeptide)
NGFR nerve growth factor receptor
NKX2-8 NK2 homeobox 8
NKX6-2 NK6 homeobox 2
NMNAT2 nicotinamide nucleotide adenylyltransferase 2
NOG noggin
NOTCH1 notch 1
NOTO notochord homeobox
NPC1 Niemann-Pick disease, type C1
NPHP4 nephronophthisis 4
NPPC natriuretic peptide C
NPR2 natriuretic peptide receptor 2
NPY1R neuropeptide Y receptor Y1
NPY2R neuropeptide Y receptor Y2
NR2E1 nuclear receptor subfamily 2, group E, member 1
NR2E3 nuclear receptor subfamily 2, group E, member 3
NR2F1 nuclear receptor subfamily 2, group F, member 1
NR6A1 nuclear receptor subfamily 6, group A, member 1
NRARP NOTCH-regulated ankyrin repeat protein
NRD1 nardilysin (N-arginine dibasic convertase)
NRG1 neuregulin 1
NRL neural retina leucine zipper
NRP1 neuropilin 1
NRP2 neuropilin 2
NRTN neurturin
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
NUMB numb homolog (Drosophila)
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)
OPN1SW opsin 1 (cone pigments), short-wave-sensitive
OPN4 opsin 4
OR10A2 olfactory receptor, family 10, subfamily A, member 2
OR10A4 olfactory receptor, family 10, subfamily A, member 4
OR10A5 olfactory receptor, family 10, subfamily A, member 5
OR8A1 olfactory receptor, family 8, subfamily A, member 1
OSM oncostatin M
OTOF otoferlin
OTOP1 otopetrin 1
OTULIN OTU deubiquitinase with linear linkage specificity
OTX2 orthodenticle homeobox 2
PANK2 pantothenate kinase 2
PANX1 pannexin 1
PAX2 paired box 2
PAX3 paired box 3
PAX6 paired box 6
PAX8 paired box 8
PCDH15 protocadherin-related 15
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
PDPK1 3-phosphoinositide dependent protein kinase 1
PDZD7 PDZ domain containing 7
PEX1 peroxisomal biogenesis factor 1
PFDN5 prefoldin subunit 5
PHEX phosphate regulating endopeptidase homolog, X-linked
PHOX2A paired-like homeobox 2a
PHOX2B paired-like homeobox 2b
PIKFYVE phosphoinositide kinase, FYVE finger containing
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLP1 proteolipid protein 1
PLXNA2 plexin A2
PLXNA3 plexin A3
PLXNA4 plexin A4
PMP22 peripheral myelin protein 22
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POU3F1 POU class 3 homeobox 1
POU4F1 POU class 4 homeobox 1
POU4F2 POU class 4 homeobox 2
POU4F3 POU class 4 homeobox 3
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PRKCQ protein kinase C, theta
PROM1 prominin 1
PROX1 prospero homeobox 1
PRPH peripherin
PRPH2 peripherin 2 (retinal degeneration, slow)
PRSS56 protease, serine, 56
PSAP prosaposin
PSEN1 presenilin 1
PTF1A pancreas specific transcription factor, 1a
PTK7 protein tyrosine kinase 7 (inactive)
PTPN13 protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)
PTPRF protein tyrosine phosphatase, receptor type, F
PTPRQ protein tyrosine phosphatase, receptor type, Q
PXDN peroxidasin
RAB23 RAB23, member RAS oncogene family
RAPSN receptor-associated protein of the synapse
RAX retina and anterior neural fold homeobox
RB1 retinoblastoma 1
RBP1 retinol binding protein 1, cellular
RBP3 retinol binding protein 3, interstitial
RD3 retinal degeneration 3
RDH10 retinol dehydrogenase 10 (all-trans)
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RDH13 retinol dehydrogenase 13 (all-trans/9-cis)
RDX radixin
REG1B regenerating islet-derived 1 beta
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RELN reelin
RER1 retention in endoplasmic reticulum sorting receptor 1
RET ret proto-oncogene
RGN regucalcin
RHO rhodopsin
RLBP1 retinaldehyde binding protein 1
RND3 Rho family GTPase 3
ROM1 retinal outer segment membrane protein 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RORA RAR-related orphan receptor A
RORB RAR-related orphan receptor B
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
RPL24 ribosomal protein L24
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RS1 retinoschisin 1
RUNX3 runt-related transcription factor 3
RXRA retinoid X receptor, alpha
RYBP RING1 and YY1 binding protein
S1PR2 sphingosine-1-phosphate receptor 2
SAG S-antigen; retina and pineal gland (arrestin)
SALL3 spalt-like transcription factor 3
SCARB2 scavenger receptor class B, member 2
SCN1B sodium channel, voltage gated, type I beta subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCRIB scribbled planar cell polarity protein
SCUBE1 signal peptide, CUB domain, EGF-like 1
SCYL1 SCY1-like 1 (S. cerevisiae)
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEC24B SEC24 family member B
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA3F sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SH2D3C SH2 domain containing 3C
SHC1 SHC (Src homology 2 domain containing) transforming protein 1
SHC2 SHC (Src homology 2 domain containing) transforming protein 2
SHH sonic hedgehog
SIRT1 sirtuin 1
SIX1 SIX homeobox 1
SIX6 SIX homeobox 6
SKOR2 SKI family transcriptional corepressor 2
SLC12A2 solute carrier family 12 (sodium/potassium/chloride transporter), member 2
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC12A7 solute carrier family 12 (potassium/chloride transporter), member 7
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
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
SLC4A3 solute carrier family 4 (anion exchanger), member 3
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7
SLC5A3 solute carrier family 5 (sodium/myo-inositol cotransporter), member 3
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
SLC9A1 solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
SLITRK6 SLIT and NTRK-like family, member 6
SLX4 SLX4 structure-specific endonuclease subunit
SMAD1 SMAD family member 1
SMN1 survival of motor neuron 1, telomeric
SMOC1 SPARC related modular calcium binding 1
SNTA1 syntrophin, alpha 1
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SORT1 sortilin 1
SOSTDC1 sclerostin domain containing 1
SOX10 SRY (sex determining region Y)-box 10
SOX2 SRY (sex determining region Y)-box 2
SPRY2 sprouty homolog 2 (Drosophila)
SPTBN4 spectrin, beta, non-erythrocytic 4
SRRM4 serine/arginine repetitive matrix 4
SSTR1 somatostatin receptor 1
SSTR2 somatostatin receptor 2
STRA6 stimulated by retinoic acid 6
STRC stereocilin
SUN1 Sad1 and UNC84 domain containing 1
SYNE1 spectrin repeat containing, nuclear envelope 1
SYNE4 spectrin repeat containing, nuclear envelope family member 4
SYNJ2 synaptojanin 2
TASP1 taspase, threonine aspartase, 1
TBCE tubulin folding cofactor E
TBR1 T-box, brain, 1
TBX1 T-box 1
TBX10 T-box 10
TBX18 T-box 18
TCOF1 Treacher Collins-Franceschetti syndrome 1
TDRD7 tudor domain containing 7
TECTA tectorin alpha
TENM2 teneurin transmembrane protein 2
TENM3 teneurin transmembrane protein 3
TFAM transcription factor A, mitochondrial
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFB1M transcription factor B1, mitochondrial
TGFB2 transforming growth factor, beta 2
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TLR4 toll-like receptor 4
TMC1 transmembrane channel-like 1
TMIE transmembrane inner ear
TMPRSS3 transmembrane protease, serine 3
TP53 tumor protein p53
TP73 tumor protein p73
TRAF4 TNF receptor-associated factor 4
TRIM2 tripartite motif containing 2
TRIOBP TRIO and F-actin binding protein
TRPC2 transient receptor potential cation channel, subfamily C, member 2, pseudogene
TSHR thyroid stimulating hormone receptor
TTC8 tetratricopeptide repeat domain 8
TUB tubby bipartite transcription factor
TUBB3 tubulin, beta 3 class III
TULP1 tubby like protein 1
TULP3 tubby like protein 3
TYR tyrosinase
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UCHL3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
UCN urocortin
UNC5C unc-5 homolog C (C. elegans)
UNCX UNC homeobox
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)
UTP14C UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)
UTRN utrophin
VAC14 Vac14 homolog (S. cerevisiae)
VANGL1 VANGL planar cell polarity protein 1
VANGL2 VANGL planar cell polarity protein 2
VAX1 ventral anterior homeobox 1
VAX2 ventral anterior homeobox 2
VCL vinculin
VEGFA vascular endothelial growth factor A
VLDLR very low density lipoprotein receptor
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)
VSX1 visual system homeobox 1
VSX2 visual system homeobox 2
WDPCP WD repeat containing planar cell polarity effector
ZEB1 zinc finger E-box binding homeobox 1
ZIC2 Zic family member 2
ZIC3 Zic family member 3
ZIC5 Zic family member 5
ZNF423 zinc finger protein 423