nervous system disease Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. (Human Disease Ontology, DOID_863)
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Genes

741 genes involed in the disease nervous system disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
AARS alanyl-tRNA synthetase
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ABHD12 abhydrolase domain containing 12
ABHD5 abhydrolase domain containing 5
ACO2 aconitase 2, mitochondrial
ACTB actin, beta
ACTG1 actin gamma 1
ADAM10 ADAM metallopeptidase domain 10
ADAM9 ADAM metallopeptidase domain 9
ADCK3 aarF domain containing kinase 3
ADCY1 adenylate cyclase 1 (brain)
ADGRV1 adhesion G protein-coupled receptor V1
ADSL adenylosuccinate lyase
AFG3L2 AFG3-like AAA ATPase 2
AGK acylglycerol kinase
AGPS alkylglycerone phosphate synthase
AGRN agrin
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ALDH1A3 aldehyde dehydrogenase 1 family, member A3
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ALMS1 Alstrom syndrome protein 1
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AMPD2 adenosine monophosphate deaminase 2
ANG angiogenin, ribonuclease, RNase A family, 5
ANO10 anoctamin 10
ANO3 anoctamin 3
ANO5 anoctamin 5
AP1S1 adaptor-related protein complex 1, sigma 1 subunit
AP5Z1 adaptor-related protein complex 5, zeta 1 subunit
APLP1 amyloid beta (A4) precursor-like protein 1
APOA1 apolipoprotein A-I
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
APTX aprataxin
AR androgen receptor
ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9
ARL6 ADP-ribosylation factor-like 6
ARL6IP1 ADP-ribosylation factor-like 6 interacting protein 1
ARSA arylsulfatase A
ARSB arylsulfatase B
ARX aristaless related homeobox
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASB10 ankyrin repeat and SOCS box containing 10
ASPA aspartoacylase
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ATF1 activating transcription factor 1
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATL1 atlastin GTPase 1
ATL3 atlastin GTPase 3
ATM ATM serine/threonine kinase
ATN1 atrophin 1
ATP13A2 ATPase type 13A2
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATXN1 ataxin 1
ATXN10 ataxin 10
ATXN2 ataxin 2
ATXN3 ataxin 3
ATXN7 ataxin 7
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
BCAP31 B-cell receptor-associated protein 31
BCOR BCL6 corepressor
BEAN1 brain expressed, associated with NEDD4, 1
BEST1 bestrophin 1
BFSP1 beaded filament structural protein 1, filensin
BFSP2 beaded filament structural protein 2, phakinin
BICD2 bicaudal D homolog 2 (Drosophila)
BMP4 bone morphogenetic protein 4
BRAT1 BRCA1-associated ATM activator 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BTBD9 BTB (POZ) domain containing 9
C10ORF2 chromosome 10 open reading frame 2
C12ORF65 chromosome 12 open reading frame 65
C19ORF12 chromosome 19 open reading frame 12
C1QTNF5 C1q and tumor necrosis factor related protein 5
C2 complement component 2
C2ORF71 chromosome 2 open reading frame 71
C3 complement component 3
C8ORF37 chromosome 8 open reading frame 37
C9 complement component 9
C9ORF72 chromosome 9 open reading frame 72
CA4 carbonic anhydrase IV
CABP2 calcium binding protein 2
CABP4 calcium binding protein 4
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
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CAPN3 calpain 3, (p94)
CASR calcium-sensing receptor
CAV3 caveolin 3
CCDC50 coiled-coil domain containing 50
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CDH23 cadherin-related 23
CDHR1 cadherin-related family member 1
CDK5 cyclin-dependent kinase 5
CDKL5 cyclin-dependent kinase-like 5
CEACAM16 carcinoembryonic antigen-related cell adhesion molecule 16
CEP290 centrosomal protein 290kDa
CERKL ceramide kinase-like
CETP cholesteryl ester transfer protein, plasma
CFB complement factor B
CFH complement factor H
CFHR2 complement factor H-related 2
CFHR4 complement factor H-related 4
CFHR5 complement factor H-related 5
CFI complement factor I
CHAT choline O-acetyltransferase
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10
CHD2 chromodomain helicase DNA binding protein 2
CHM choroideremia (Rab escort protein 1)
CHMP2B charged multivesicular body protein 2B
CHMP4B charged multivesicular body protein 4B
CHN1 chimerin 1
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNA2 cholinergic receptor, nicotinic, alpha 2 (neuronal)
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CIB2 calcium and integrin binding family member 2
CIZ1 CDKN1A interacting zinc finger protein 1
CLCN1 chloride channel, voltage-sensitive 1
CLCN2 chloride channel, voltage-sensitive 2
CLDN14 claudin 14
CLN3 ceroid-lipofuscinosis, neuronal 3
CLN5 ceroid-lipofuscinosis, neuronal 5
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CLP1 cleavage and polyadenylation factor I subunit 1
CLRN1 clarin 1
CNGA1 cyclic nucleotide gated channel alpha 1
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB1 cyclic nucleotide gated channel beta 1
CNGB3 cyclic nucleotide gated channel beta 3
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4
CNTN2 contactin 2 (axonal)
CNTNAP2 contactin associated protein-like 2
COASY CoA synthase
COCH cochlin
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL11A2P1 collagen, type XI, alpha 2 pseudogene 1
COL2A1 collagen, type II, alpha 1
COL4A6 collagen, type IV, alpha 6
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
CPA6 carboxypeptidase A6
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
CRYAA crystallin, alpha A
CRYAB crystallin, alpha B
CRYBA1 crystallin, beta A1
CRYBA2 crystallin, beta A2
CRYBA4 crystallin, beta A4
CRYBB1 crystallin, beta B1
CRYBB2 crystallin, beta B2
CRYBB3 crystallin, beta B3
CRYGB crystallin, gamma B
CRYGC crystallin, gamma C
CRYGD crystallin, gamma D
CRYGS crystallin, gamma S
CST3 cystatin C
CSTB cystatin B (stefin B)
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTSD cathepsin D
CTSF cathepsin F
CX3CR1 chemokine (C-X3-C motif) receptor 1
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2U1 cytochrome P450, family 2, subfamily U, polypeptide 1
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DAGLA diacylglycerol lipase, alpha
DCAF8 DDB1 and CUL4 associated factor 8
DCTN1 dynactin 1
DCX doublecortin
DDHD1 DDHD domain containing 1
DDHD2 DDHD domain containing 2
DEPDC5 DEP domain containing 5
DES desmin
DFNA5 deafness, autosomal dominant 5
DFNB31 deafness, autosomal recessive 31
DFNB59 deafness, autosomal recessive 59
DGUOK deoxyguanosine kinase
DHDDS dehydrodolichyl diphosphate synthase
DHTKD1 dehydrogenase E1 and transketolase domain containing 1
DIABLO diablo, IAP-binding mitochondrial protein
DIAPH1 diaphanous-related formin 1
DIAPH3 diaphanous-related formin 3
DMPK dystrophia myotonica-protein kinase
DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6
DNM2 dynamin 2
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DOCK7 dedicator of cytokinesis 7
DOK7 docking protein 7
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3
DPP6 dipeptidyl-peptidase 6
DRD2 dopamine receptor D2
DRD5 dopamine receptor D5
DST dystonin
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYSF dysferlin
EBP emopamil binding protein (sterol isomerase)
EEF2 eukaryotic translation elongation factor 2
EFHC1 EF-hand domain (C-terminal) containing 1
EGR2 early growth response 2
EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
EIF4G1 eukaryotic translation initiation factor 4 gamma, 1
ELMOD3 ELMO/CED-12 domain containing 3
ELOVL4 ELOVL fatty acid elongase 4
EMD emerin
EML1 echinoderm microtubule associated protein like 1
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPHA2 EPH receptor A2
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
ERBB4 erb-b2 receptor tyrosine kinase 4
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC6 excision repair cross-complementation group 6
ERLIN2 ER lipid raft associated 2
ESPN espin
ESRRB estrogen-related receptor beta
EYA4 EYA transcriptional coactivator and phosphatase 4
EYS eyes shut homolog (Drosophila)
F13B coagulation factor XIII, B polypeptide
FA2H fatty acid 2-hydroxylase
FAM126A family with sequence similarity 126, member A
FAM134B family with sequence similarity 134, member B
FAM161A family with sequence similarity 161, member A
FBLN5 fibulin 5
FBXO38 F-box protein 38
FBXO7 F-box protein 7
FGD4 FYVE, RhoGEF and PH domain containing 4
FGF14 fibroblast growth factor 14
FGGY FGGY carbohydrate kinase domain containing
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FKTN fukutin
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FMR1 fragile X mental retardation 1
FOLR1 folate receptor 1 (adult)
FOXC1 forkhead box C1
FOXE3 forkhead box E3
FSCN2 fascin actin-bundling protein 2, retinal
FTL ferritin, light polypeptide
FUS FUS RNA binding protein
FXN frataxin
FYCO1 FYVE and coiled-coil domain containing 1
FZD4 frizzled class receptor 4
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GALC galactosylceramidase
GALK1 galactokinase 1
GALT galactose-1-phosphate uridylyltransferase
GAN gigaxonin
GARS glycyl-tRNA synthetase
GBA glucosidase, beta, acid
GBA2 glucosidase, beta (bile acid) 2
GCH1 GTP cyclohydrolase 1
GDAP1 ganglioside induced differentiation associated protein 1
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GFAP glial fibrillary acidic protein
GFER growth factor, augmenter of liver regeneration
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GIGYF2 GRB10 interacting GYF protein 2
GJA1 gap junction protein, alpha 1, 43kDa
GJA3 gap junction protein, alpha 3, 46kDa
GJA8 gap junction protein, alpha 8, 50kDa
GJB1 gap junction protein, beta 1, 32kDa
GJB2 gap junction protein, beta 2, 26kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB6 gap junction protein, beta 6, 30kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLB1 galactosidase, beta 1
GM2A GM2 ganglioside activator
GMPPB GDP-mannose pyrophosphorylase B
GNAL guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4
GNPAT glyceronephosphate O-acyltransferase
GOSR2 golgi SNAP receptor complex member 2
GPR143 G protein-coupled receptor 143
GPR179 G protein-coupled receptor 179
GRHL2 grainyhead-like 2 (Drosophila)
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRK1 G protein-coupled receptor kinase 1
GRM1 glutamate receptor, metabotropic 1
GRM6 glutamate receptor, metabotropic 6
GRN granulin
GRXCR1 glutaredoxin, cysteine rich 1
GRXCR2 glutaredoxin, cysteine rich 2
GSK3A glycogen synthase kinase 3 alpha
GSK3B glycogen synthase kinase 3 beta
GUCA1B guanylate cyclase activator 1B (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HARS histidyl-tRNA synthetase
HCCS holocytochrome c synthase
HEXA hexosaminidase A (alpha polypeptide)
HEXB hexosaminidase B (beta polypeptide)
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HINT1 histidine triad nucleotide binding protein 1
HIP1 huntingtin interacting protein 1
HIST1H2AG histone cluster 1, H2ag
HK1 hexokinase 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMCN1 hemicentin 1
HMGB3 high mobility group box 3
HMX1 H6 family homeobox 1
HNRNPA1 heterogeneous nuclear ribonucleoprotein A1
HSF4 heat shock transcription factor 4
HSPB1 heat shock 27kDa protein 1
HSPB3 heat shock 27kDa protein 3
HSPB8 heat shock 22kDa protein 8
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HTRA1 HtrA serine peptidase 1
HTRA2 HtrA serine peptidase 2
HTT huntingtin
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IER3IP1 immediate early response 3 interacting protein 1
IGHMBP2 immunoglobulin mu binding protein 2
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IL2RA interleukin 2 receptor, alpha
IL7R interleukin 7 receptor
ILDR1 immunoglobulin-like domain containing receptor 1
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INF2 inverted formin, FH2 and WH2 domain containing
ISPD isoprenoid synthase domain containing
ITGA7 integrin, alpha 7
ITM2B integral membrane protein 2B
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KARS lysyl-tRNA synthetase
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNC3 potassium channel, voltage gated Shaw related subfamily C, member 3
KCND3 potassium channel, voltage gated Shal related subfamily D, member 3
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KCNQ4 potassium channel, voltage gated KQT-like subfamily Q, member 4
KCNT1 potassium channel, sodium activated subfamily T, member 1
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2
KIAA0196 KIAA0196
KIAA0226 KIAA0226
KIF1A kinesin family member 1A
KIF1B kinesin family member 1B
KIF1C kinesin family member 1C
KIF5A kinesin family member 5A
KLHL7 kelch-like family member 7
L1CAM L1 cell adhesion molecule
LAMA2 laminin, alpha 2
LARGE like-glycosyltransferase
LCA5 Leber congenital amaurosis 5
LGI1 leucine-rich, glioma inactivated 1
LHFPL5 lipoma HMGIC fusion partner-like 5
LIM2 lens intrinsic membrane protein 2, 19kDa
LIPC lipase, hepatic
LITAF lipopolysaccharide-induced TNF factor
LMNA lamin A/C
LMNB1 lamin B1
LOXHD1 lipoxygenase homology domains 1
LOXL1 lysyl oxidase-like 1
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3
LRP5 low density lipoprotein receptor-related protein 5
LRRK2 leucine-rich repeat kinase 2
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
LTBP2 latent transforming growth factor beta binding protein 2
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MAK male germ cell-associated kinase
MAP2 microtubule-associated protein 2
MAP2K5 mitogen-activated protein kinase kinase 5
MAPK10 mitogen-activated protein kinase 10
MAPT microtubule-associated protein tau
MARS2 methionyl-tRNA synthetase 2, mitochondrial
MARVELD2 MARVEL domain containing 2
MATR3 matrin 3
MED25 mediator complex subunit 25
MEF2C myocyte enhancer factor 2C
MEIS1 Meis homeobox 1
MERTK MER proto-oncogene, tyrosine kinase
MFN2 mitofusin 2
MFRP membrane frizzled-related protein
MFSD8 major facilitator superfamily domain containing 8
MIP major intrinsic protein of lens fiber
MPV17 MpV17 mitochondrial inner membrane protein
MPZ myelin protein zero
MSRB3 methionine sulfoxide reductase B3
MTMR2 myotubularin related protein 2
MTPAP mitochondrial poly(A) polymerase
MUSK muscle, skeletal, receptor tyrosine kinase
MVK mevalonate kinase
MYH14 myosin, heavy chain 14, non-muscle
MYH9 myosin, heavy chain 9, non-muscle
MYO15A myosin XVA
MYO1A myosin IA
MYO3A myosin IIIA
MYO6 myosin VI
MYO7A myosin VIIA
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
MYOT myotilin
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGA N-acetylgalactosaminidase, alpha-
NALCN sodium leak channel, non selective
NDP Norrie disease (pseudoglioma)
NDRG1 N-myc downstream regulated 1
NECAP1 NECAP endocytosis associated 1
NEFH neurofilament, heavy polypeptide
NEFL neurofilament, light polypeptide
NEK2 NIMA-related kinase 2
NGF nerve growth factor (beta polypeptide)
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOP56 NOP56 ribonucleoprotein
NOTCH3 notch 3
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
NT5C2 5'-nucleotidase, cytosolic II
NTF4 neurotrophin 4
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NYX nyctalopin
OCRL oculocerebrorenal syndrome of Lowe
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OPTN optineurin
OTOA otoancorin
OTOF otoferlin
OTOG otogelin
OTOGL otogelin-like
OTX2 orthodenticle homeobox 2
P2RX2 purinergic receptor P2X, ligand gated ion channel, 2
PABPN1 poly(A) binding protein, nuclear 1
PANK2 pantothenate kinase 2
PARK2 parkin RBR E3 ubiquitin protein ligase
PARK7 parkinson protein 7
PAX6 paired box 6
PCDH15 protocadherin-related 15
PCDH19 protocadherin 19
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDK3 pyruvate dehydrogenase kinase, isozyme 3
PDYN prodynorphin
PDZD7 PDZ domain containing 7
PEX7 peroxisomal biogenesis factor 7
PFN1 profilin 1
PHF6 PHD finger protein 6
PHYH phytanoyl-CoA 2-hydroxylase
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5
PINK1 PTEN induced putative kinase 1
PITPNM3 PITPNM family member 3
PITX2 paired-like homeodomain 2
PITX3 paired-like homeodomain 3
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PLD3 phospholipase D family, member 3
PLEC plectin
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLP1 proteolipid protein 1
PMP22 peripheral myelin protein 22
PNKD paroxysmal nonkinesigenic dyskinesia
PNPLA6 patatin-like phospholipase domain containing 6
PNPO pyridoxamine 5'-phosphate oxidase
PNPT1 polyribonucleotide nucleotidyltransferase 1
POLG polymerase (DNA directed), gamma
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
POU3F4 POU class 3 homeobox 4
POU4F3 POU class 4 homeobox 3
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PPP5C protein phosphatase 5, catalytic subunit
PPT1 palmitoyl-protein thioesterase 1
PRCD progressive rod-cone degeneration
PRICKLE1 prickle homolog 1 (Drosophila)
PRICKLE2 prickle homolog 2 (Drosophila)
PRKCG protein kinase C, gamma
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PRNP prion protein
PROM1 prominin 1
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF6 pre-mRNA processing factor 6
PRPF8 pre-mRNA processing factor 8
PRPH peripherin
PRPH2 peripherin 2 (retinal degeneration, slow)
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRRT2 proline-rich transmembrane protein 2
PRX periaxin
PSAP prosaposin
PSEN1 presenilin 1
PSEN2 presenilin 2
PTPRD protein tyrosine phosphatase, receptor type, D
PTPRQ protein tyrosine phosphatase, receptor type, Q
QARS glutaminyl-tRNA synthetase
RAB28 RAB28, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAB7A RAB7A, member RAS oncogene family
RALGPS2 Ral GEF with PH domain and SH3 binding motif 2
RAPSN receptor-associated protein of the synapse
RARB retinoic acid receptor, beta
RAX retina and anterior neural fold homeobox
RAX2 retina and anterior neural fold homeobox 2
RB1 retinoblastoma 1
RBP3 retinol binding protein 3, interstitial
RD3 retinal degeneration 3
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RDX radixin
RECQL4 RecQ protein-like 4
REEP1 receptor accessory protein 1
REEP2 receptor accessory protein 2
RGR retinal G protein coupled receptor
RHO rhodopsin
RIMS1 regulating synaptic membrane exocytosis 1
RLBP1 retinaldehyde binding protein 1
ROGDI rogdi homolog (Drosophila)
ROM1 retinal outer segment membrane protein 1
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP2 retinitis pigmentosa 2 (X-linked recessive)
RP9 retinitis pigmentosa 9 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RTN2 reticulon 2
SACS sacsin molecular chaperone
SAG S-antigen; retina and pineal gland (arrestin)
SBF1 SET binding factor 1
SBF2 SET binding factor 2
SCARB2 scavenger receptor class B, member 2
SCN11A sodium channel, voltage gated, type XI alpha subunit
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN1B sodium channel, voltage gated, type I beta subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SDCCAG8 serologically defined colon cancer antigen 8
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SEPT9 septin 9
SERPINB6 serpin peptidase inhibitor, clade B (ovalbumin), member 6
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1
SETX senataxin
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SGCE sarcoglycan, epsilon
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SHH sonic hedgehog
SIGMAR1 sigma non-opioid intracellular receptor 1
SIRT2 sirtuin 2
SIX1 SIX homeobox 1
SIX6 SIX homeobox 6
SKOR1 SKI family transcriptional corepressor 1
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC16A12 solute carrier family 16, member 12
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8
SLC19A3 solute carrier family 19 (thiamine transporter), member 3
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC24A1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC26A5 solute carrier family 26 (anion exchanger), member 5
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC7A14 solute carrier family 7, member 14
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SLITRK1 SLIT and NTRK-like family, member 1
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SMOC1 SPARC related modular calcium binding 1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SMPX small muscle protein, X-linked
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SNCAIP synuclein, alpha interacting protein
SNIP1 Smad nuclear interacting protein 1
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SNX3 sorting nexin 3
SOD1 superoxide dismutase 1, soluble
SORL1 sortilin-related receptor, L(DLR class) A repeats containing
SOX2 SRY (sex determining region Y)-box 2
SPAST spastin
SPATA7 spermatogenesis associated 7
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
SPTAN1 spectrin, alpha, non-erythrocytic 1
SPTBN2 spectrin, beta, non-erythrocytic 2
SPTLC1 serine palmitoyltransferase, long chain base subunit 1
SPTLC2 serine palmitoyltransferase, long chain base subunit 2
SRD5A3 steroid 5 alpha-reductase 3
SRPX2 sushi-repeat containing protein, X-linked 2
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STRA6 stimulated by retinoic acid 6
STRC stereocilin
STRCP1 stereocilin pseudogene 1
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
STXBP1 syntaxin binding protein 1
SUMF1 sulfatase modifying factor 1
SYN1 synapsin I
SYNE1 spectrin repeat containing, nuclear envelope 1
SYNE2 spectrin repeat containing, nuclear envelope 2
SYNE4 spectrin repeat containing, nuclear envelope family member 4
SYNJ1 synaptojanin 1
SYT14 synaptotagmin XIV
SZT2 seizure threshold 2 homolog (mouse)
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
TARDBP TAR DNA binding protein
TBC1D24 TBC1 domain family, member 24
TBK1 TANK-binding kinase 1
TBP TATA box binding protein
TCAP titin-cap
TCF4 transcription factor 4
TDP1 tyrosyl-DNA phosphodiesterase 1
TDRD7 tudor domain containing 7
TECPR2 tectonin beta-propeller repeat containing 2
TECTA tectorin alpha
TFG TRK-fused gene
TGM6 transglutaminase 6
TH tyrosine hydroxylase
THAP1 THAP domain containing, apoptosis associated protein 1
TIMP3 TIMP metallopeptidase inhibitor 3
TLR4 toll-like receptor 4
TMC1 transmembrane channel-like 1
TMEM106B transmembrane protein 106B
TMEM43 transmembrane protein 43
TMEM5 transmembrane protein 5
TMIE transmembrane inner ear
TMPRSS3 transmembrane protease, serine 3
TNC tenascin C
TNF tumor necrosis factor
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TOR1A torsin family 1, member A (torsin A)
TOX3 TOX high mobility group box family member 3
TPP1 tripeptidyl peptidase I
TPRN taperin
TRAPPC11 trafficking protein particle complex 11
TREX1 three prime repair exonuclease 1
TRIM2 tripartite motif containing 2
TRIM32 tripartite motif containing 32
TRIOBP TRIO and F-actin binding protein
TRPM1 transient receptor potential cation channel, subfamily M, member 1
TRPM7 transient receptor potential cation channel, subfamily M, member 7
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSC1 tuberous sclerosis 1
TSPEAR thrombospondin-type laminin G domain and EAR repeats
TTBK2 tau tubulin kinase 2
TTC8 tetratricopeptide repeat domain 8
TTLL5 tubulin tyrosine ligase-like family member 5
TTN titin
TTR transthyretin
TULP1 tubby like protein 1
TXNDC12 thioredoxin domain containing 12 (endoplasmic reticulum)
UBA1 ubiquitin-like modifier activating enzyme 1
UBQLN2 ubiquilin 2
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UNC119 unc-119 homolog (C. elegans)
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
VAX1 ventral anterior homeobox 1
VCAN versican
VCP valosin containing protein
VIM vimentin
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS35 vacuolar protein sorting 35 homolog (S. cerevisiae)
VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae)
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)
VSX2 visual system homeobox 2
WDR19 WD repeat domain 19
WDR36 WD repeat domain 36
WDR45 WD repeat domain 45
WFS1 Wolfram syndrome 1 (wolframin)
WNK1 WNK lysine deficient protein kinase 1
WWOX WW domain containing oxidoreductase
YARS tyrosyl-tRNA synthetase
ZEB2 zinc finger E-box binding homeobox 2
ZFYVE26 zinc finger, FYVE domain containing 26
ZFYVE27 zinc finger, FYVE domain containing 27
ZIC1 Zic family member 1
ZIC4 Zic family member 4
ZNF513 zinc finger protein 513
ZNF592 zinc finger protein 592