abnormality of vision Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormality of eyesight (visual perception). (Human Phenotype Ontology, HP_0000504)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000504
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Genes

582 genes associated with the abnormality of vision phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACTB actin, beta
ACVRL1 activin A receptor type II-like 1
ADAM9 ADAM metallopeptidase domain 9
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTSL4 ADAMTS-like 4
ADGRV1 adhesion G protein-coupled receptor V1
ADRA2B adrenoceptor alpha 2B
AHI1 Abelson helper integration site 1
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
AIRE autoimmune regulator
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALMS1 Alstrom syndrome protein 1
AMACR alpha-methylacyl-CoA racemase
AMPD2 adenosine monophosphate deaminase 2
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
ANOS1 anosmin 1
ANTXR1 anthrax toxin receptor 1
AP3B1 adaptor-related protein complex 3, beta 1 subunit
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
ARX aristaless related homeobox
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASPA aspartoacylase
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
ATXN3 ataxin 3
ATXN7 ataxin 7
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BDNF brain-derived neurotrophic factor
BEST1 bestrophin 1
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3
BMP4 bone morphogenetic protein 4
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BTD biotinidase
C10ORF11 chromosome 10 open reading frame 11
C12ORF65 chromosome 12 open reading frame 65
C19ORF12 chromosome 19 open reading frame 12
C1QTNF5 C1q and tumor necrosis factor related protein 5
C2ORF71 chromosome 2 open reading frame 71
C4A complement component 4A (Rodgers blood group)
C8ORF37 chromosome 8 open reading frame 37
CA2 carbonic anhydrase II
CA4 carbonic anhydrase IV
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
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4
CALR calreticulin
CAPN5 calpain 5
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CBS cystathionine-beta-synthase
CC2D2A coiled-coil and C2 domain containing 2A
CDH23 cadherin-related 23
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDHR1 cadherin-related family member 1
CECR1 cat eye syndrome chromosome region, candidate 1
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CERKL ceramide kinase-like
CFH complement factor H
CHD7 chromodomain helicase DNA binding protein 7
CHM choroideremia (Rab escort protein 1)
CHMP1A charged multivesicular body protein 1A
CHN1 chimerin 1
CHST6 carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
CIB2 calcium and integrin binding family member 2
CISD2 CDGSH iron sulfur domain 2
CLCN2 chloride channel, voltage-sensitive 2
CLCN7 chloride channel, voltage-sensitive 7
CLIP2 CAP-GLY domain containing linker protein 2
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)
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)
COL11A1 collagen, type XI, alpha 1
COL18A1 collagen, type XVIII, alpha 1
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
COL7A1 collagen, type VII, alpha 1
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COX1
COX2
COX3
COX7B cytochrome c oxidase subunit VIIb
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
CRYAA crystallin, alpha A
CRYGC crystallin, gamma C
CTC1 CTS telomere maintenance complex component 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNS cystinosin, lysosomal cystine transporter
CTSD cathepsin D
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2
DCN decorin
DDB2 damage-specific DNA binding protein 2, 48kDa
DFNB31 deafness, autosomal recessive 31
DHDDS dehydrodolichyl diphosphate synthase
DOCK7 dedicator of cytokinesis 7
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DRD5 dopamine receptor D5
DUSP6 dual specificity phosphatase 6
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
EDNRA endothelin receptor type A
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
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
ENG endoglin
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ERF Ets2 repressor factor
EYS eyes shut homolog (Drosophila)
FAM161A family with sequence similarity 161, member A
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FBN1 fibrillin 1
FEZF1 FEZ family zinc finger 1
FGF10 fibroblast growth factor 10
FGF17 fibroblast growth factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FKRP fukutin related protein
FKTN fukutin
FLRT3 fibronectin leucine rich transmembrane protein 3
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FOXC2 forkhead box C2
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FRMD7 FERM domain containing 7
FSCN2 fascin actin-bundling protein 2, retinal
FXN frataxin
FZD4 frizzled class receptor 4
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALC galactosylceramidase
GATA2 GATA binding protein 2
GDF2 growth differentiation factor 2
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GJA1 gap junction protein, alpha 1, 43kDa
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GM2A GM2 ganglioside activator
GMPPA GDP-mannose pyrophosphorylase A
GMPPB GDP-mannose pyrophosphorylase B
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GPR143 G protein-coupled receptor 143
GPR179 G protein-coupled receptor 179
GRIP1 glutamate receptor interacting protein 1
GRK1 G protein-coupled receptor kinase 1
GRM6 glutamate receptor, metabotropic 6
GRN granulin
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCA1A guanylate cyclase activator 1A (retina)
GUCA1B guanylate cyclase activator 1B (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HARS histidyl-tRNA synthetase
HBB hemoglobin, beta
HCCS holocytochrome c synthase
HESX1 HESX homeobox 1
HEXA hexosaminidase A (alpha polypeptide)
HEXB hexosaminidase B (beta polypeptide)
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
HSPG2 heparan sulfate proteoglycan 2
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IGBP1 immunoglobulin (CD79A) binding protein 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL12B interleukin 12B
IL12RB2 interleukin 12 receptor, beta 2
IL17RD interleukin 17 receptor D
IL23R interleukin 23 receptor
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG1 interphotoreceptor matrix proteoglycan 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INVS inversin
IQCB1 IQ motif containing B1
JAK2 Janus kinase 2
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2
KCTD7 potassium channel tetramerization domain containing 7
KIF11 kinesin family member 11
KISS1R KISS1 receptor
KIZ kizuna centrosomal protein
KLHL7 kelch-like family member 7
LAMA1 laminin, alpha 1
LAMB2 laminin, beta 2 (laminin S)
LAMP2 lysosomal-associated membrane protein 2
LARGE like-glycosyltransferase
LCA5 Leber congenital amaurosis 5
LEMD3 LEM domain containing 3
LIMK1 LIM domain kinase 1
LMNB1 lamin B1
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3
LRP2 low density lipoprotein receptor-related protein 2
LRP5 low density lipoprotein receptor-related protein 5
LTBP2 latent transforming growth factor beta binding protein 2
LYST lysosomal trafficking regulator
MAK male germ cell-associated kinase
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MAPT microtubule-associated protein tau
MBD5 methyl-CpG binding domain protein 5
MBTPS2 membrane-bound transcription factor peptidase, site 2
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MCOLN1 mucolipin 1
MEFV Mediterranean fever
MERTK MER proto-oncogene, tyrosine kinase
MFN2 mitofusin 2
MFSD8 major facilitator superfamily domain containing 8
MIR184 microRNA 184
MITF microphthalmia-associated transcription factor
MKS1 Meckel syndrome, type 1
MLH1 mutL homolog 1
MLX MLX, MAX dimerization protein
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMP1 matrix metallopeptidase 1
MPL MPL proto-oncogene, thrombopoietin receptor
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MT-CYB cytochrome b
MT-ND2 MTND2
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TK tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MTTP microsomal triglyceride transfer protein
MVK mevalonate kinase
MYO7A myosin VIIA
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NAGA N-acetylgalactosaminidase, alpha-
NBAS neuroblastoma amplified sequence
ND1
NDP Norrie disease (pseudoglioma)
NDRG1 N-myc downstream regulated 1
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NEK2 NIMA-related kinase 2
NEU1 sialidase 1 (lysosomal sialidase)
NF2 neurofibromin 2 (merlin)
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH3 notch 3
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
NR2E3 nuclear receptor subfamily 2, group E, member 3
NR2F1 nuclear receptor subfamily 2, group F, member 1
NRL neural retina leucine zipper
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
NUBPL nucleotide binding protein-like
NYX nyctalopin
OAT ornithine aminotransferase
OCA2 oculocutaneous albinism II
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OPA1 optic atrophy 1 (autosomal dominant)
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
OPN1SW opsin 1 (cone pigments), short-wave-sensitive
OTX2 orthodenticle homeobox 2
PALB2 partner and localizer of BRCA2
PAX2 paired box 2
PAX6 paired box 6
PCDH15 protocadherin-related 15
PCNA proliferating cell nuclear antigen
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
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
PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PDZD7 PDZ domain containing 7
PEPD peptidase D
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PEX7 peroxisomal biogenesis factor 7
PGK1 phosphoglycerate kinase 1
PHF6 PHD finger protein 6
PHOX2A paired-like homeobox 2a
PHYH phytanoyl-CoA 2-hydroxylase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PIKFYVE phosphoinositide kinase, FYVE finger containing
PITPNM3 PITPNM family member 3
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLCD1 phospholipase C, delta 1
PLG plasminogen
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNPLA6 patatin-like phospholipase domain containing 6
POC1B POC1 centriolar protein B
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POLH polymerase (DNA directed), eta
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PORCN porcupine homolog (Drosophila)
PPT1 palmitoyl-protein thioesterase 1
PQBP1 polyglutamine binding protein 1
PRCD progressive rod-cone degeneration
PRDM16 PR domain containing 16
PRDM5 PR domain containing 5
PRIMPOL primase and polymerase (DNA-directed)
PRNP prion protein
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PROM1 prominin 1
PROS1 protein S (alpha)
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF4 pre-mRNA processing factor 4
PRPF6 pre-mRNA processing factor 6
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRTN3 proteinase 3
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAB18 RAB18, member RAS oncogene family
RAB28 RAB28, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD51C RAD51 paralog C
RAX2 retina and anterior neural fold homeobox 2
RBP3 retinol binding protein 3, interstitial
RBP4 retinol binding protein 4, plasma
RD3 retinal degeneration 3
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RDH5 retinol dehydrogenase 5 (11-cis/9-cis)
RFC2 replication factor C (activator 1) 2, 40kDa
RGR retinal G protein coupled receptor
RGS9 regulator of G-protein signaling 9
RGS9BP regulator of G protein signaling 9 binding protein
RHO rhodopsin
RIMS1 regulating synaptic membrane exocytosis 1
RLBP1 retinaldehyde binding protein 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
ROM1 retinal outer segment membrane protein 1
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP1L1 retinitis pigmentosa 1-like 1
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
RPGRIP1L RPGRIP1-like
RS1 retinoschisin 1
SAG S-antigen; retina and pineal gland (arrestin)
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SAT1 spermidine/spermine N1-acetyltransferase 1
SCN1A sodium channel, voltage gated, type I 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
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1
SETBP1 SET binding protein 1
SFXN4 sideroflexin 4
SH2B3 SH2B adaptor protein 3
SH3BP2 SH3-domain binding protein 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHH sonic hedgehog
SKI SKI proto-oncogene
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC38A8 solute carrier family 38, member 8
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC45A2 solute carrier family 45, member 2
SLC4A11 solute carrier family 4, sodium borate transporter, member 11
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLC7A14 solute carrier family 7, member 14
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SNX10 sorting nexin 10
SNX3 sorting nexin 3
SOBP sine oculis binding protein homolog (Drosophila)
SOST sclerostin
SOX10 SRY (sex determining region Y)-box 10
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SPATA7 spermatogenesis associated 7
SPG11 spastic paraplegia 11 (autosomal recessive)
SPRY4 sprouty homolog 4 (Drosophila)
SRD5A3 steroid 5 alpha-reductase 3
ST14 suppression of tumorigenicity 14 (colon carcinoma)
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STAT4 signal transducer and activator of transcription 4
STIM1 stromal interaction molecule 1
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUMF1 sulfatase modifying factor 1
TACR3 tachykinin receptor 3
TACSTD2 tumor-associated calcium signal transducer 2
TAT tyrosine aminotransferase
TBC1D20 TBC1 domain family, member 20
TBC1D24 TBC1 domain family, member 24
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TCF12 transcription factor 12
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCOF1 Treacher Collins-Franceschetti syndrome 1
TENM3 teneurin transmembrane protein 3
TET2 tet methylcytosine dioxygenase 2
TFG TRK-fused gene
TGFB1 transforming growth factor, beta 1
TGFBI transforming growth factor, beta-induced, 68kDa
THPO thrombopoietin
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TLR4 toll-like receptor 4
TMEM126A transmembrane protein 126A
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TMEM98 transmembrane protein 98
TNF tumor necrosis factor
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TP53 tumor protein p53
TP63 tumor protein p63
TPP1 tripeptidyl peptidase I
TREX1 three prime repair exonuclease 1
TRNE
TRPM1 transient receptor potential cation channel, subfamily M, member 1
TSEN34 TSEN34 tRNA splicing endonuclease subunit
TSFM Ts translation elongation factor, mitochondrial
TSPAN12 tetraspanin 12
TTC8 tetratricopeptide repeat domain 8
TTPA tocopherol (alpha) transfer protein
TTR transthyretin
TUB tubby bipartite transcription factor
TUBB3 tubulin, beta 3 class III
TUBB4A tubulin, beta 4A class IVa
TUBGCP6 tubulin, gamma complex associated protein 6
TULP1 tubby like protein 1
TWIST1 twist family bHLH transcription factor 1
TYR tyrosinase
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)
VCAN versican
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WDR11 WD repeat domain 11
WFS1 Wolfram syndrome 1 (wolframin)
WNT10A wingless-type MMTV integration site family, member 10A
WT1 Wilms tumor 1
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
YAP1 Yes-associated protein 1
ZFP90 ZFP90 zinc finger protein
ZFYVE26 zinc finger, FYVE domain containing 26
ZNF423 zinc finger protein 423
ZNF469 zinc finger protein 469
ZNF513 zinc finger protein 513