eye disease Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An eye and adnexa disease that is located_in the eye. (Human Disease Ontology, DOID_5614)
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Genes

231 genes involed in the disease eye disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ABHD12 abhydrolase domain containing 12
ABHD5 abhydrolase domain containing 5
ADAM9 ADAM metallopeptidase domain 9
ADGRV1 adhesion G protein-coupled receptor V1
AGK acylglycerol kinase
AGPS alkylglycerone phosphate synthase
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ALDH1A3 aldehyde dehydrogenase 1 family, member A3
ALMS1 Alstrom syndrome protein 1
APOE apolipoprotein E
ARL6 ADP-ribosylation factor-like 6
ASB10 ankyrin repeat and SOCS box containing 10
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
BCOR BCL6 corepressor
BEST1 bestrophin 1
BFSP1 beaded filament structural protein 1, filensin
BFSP2 beaded filament structural protein 2, phakinin
BMP4 bone morphogenetic protein 4
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
CA4 carbonic anhydrase IV
CABP4 calcium binding protein 4
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CDH23 cadherin-related 23
CDHR1 cadherin-related family member 1
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
CHM choroideremia (Rab escort protein 1)
CHMP4B charged multivesicular body protein 4B
CHN1 chimerin 1
CIB2 calcium and integrin binding family member 2
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
COL11A1 collagen, type XI, alpha 1
COL2A1 collagen, type II, alpha 1
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
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
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
DHDDS dehydrodolichyl diphosphate synthase
DMPK dystrophia myotonica-protein kinase
EBP emopamil binding protein (sterol isomerase)
ELOVL4 ELOVL fatty acid elongase 4
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPHA2 EPH receptor A2
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC6 excision repair cross-complementation group 6
EYS eyes shut homolog (Drosophila)
F13B coagulation factor XIII, B polypeptide
FAM126A family with sequence similarity 126, member A
FAM161A family with sequence similarity 161, member A
FBLN5 fibulin 5
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FOXC1 forkhead box C1
FOXE3 forkhead box E3
FSCN2 fascin actin-bundling protein 2, retinal
FTL ferritin, light polypeptide
FYCO1 FYVE and coiled-coil domain containing 1
FZD4 frizzled class receptor 4
GALK1 galactokinase 1
GALT galactose-1-phosphate uridylyltransferase
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GFER growth factor, augmenter of liver regeneration
GJA1 gap junction protein, alpha 1, 43kDa
GJA3 gap junction protein, alpha 3, 46kDa
GJA8 gap junction protein, alpha 8, 50kDa
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
GNPAT glyceronephosphate O-acyltransferase
GPR143 G protein-coupled receptor 143
GPR179 G protein-coupled receptor 179
GRK1 G protein-coupled receptor kinase 1
GRM6 glutamate receptor, metabotropic 6
GUCA1B guanylate cyclase activator 1B (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HARS histidyl-tRNA synthetase
HCCS holocytochrome c synthase
HMCN1 hemicentin 1
HMGB3 high mobility group box 3
HMX1 H6 family homeobox 1
HSF4 heat shock transcription factor 4
HTRA1 HtrA serine peptidase 1
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2
KLHL7 kelch-like family member 7
LCA5 Leber congenital amaurosis 5
LIM2 lens intrinsic membrane protein 2, 19kDa
LIPC lipase, hepatic
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
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
MERTK MER proto-oncogene, tyrosine kinase
MFRP membrane frizzled-related protein
MIP major intrinsic protein of lens fiber
MVK mevalonate kinase
MYH9 myosin, heavy chain 9, non-muscle
MYO7A myosin VIIA
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NDP Norrie disease (pseudoglioma)
NEK2 NIMA-related kinase 2
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
NTF4 neurotrophin 4
NYX nyctalopin
OCRL oculocerebrorenal syndrome of Lowe
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OPTN optineurin
OTX2 orthodenticle homeobox 2
PABPN1 poly(A) binding protein, nuclear 1
PAX6 paired box 6
PCDH15 protocadherin-related 15
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
PDZD7 PDZ domain containing 7
PEX7 peroxisomal biogenesis factor 7
PHYH phytanoyl-CoA 2-hydroxylase
PITPNM3 PITPNM family member 3
PITX2 paired-like homeodomain 2
PITX3 paired-like homeodomain 3
PRCD progressive rod-cone degeneration
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
PRPH2 peripherin 2 (retinal degeneration, slow)
RAB28 RAB28, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
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)
RECQL4 RecQ protein-like 4
RGR retinal G protein coupled receptor
RHO rhodopsin
RIMS1 regulating synaptic membrane exocytosis 1
RLBP1 retinaldehyde binding protein 1
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
SAG S-antigen; retina and pineal gland (arrestin)
SDCCAG8 serologically defined colon cancer antigen 8
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SHH sonic hedgehog
SIX6 SIX homeobox 6
SLC16A12 solute carrier family 16, member 12
SLC24A1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC7A14 solute carrier family 7, member 14
SMOC1 SPARC related modular calcium binding 1
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SNX3 sorting nexin 3
SOX2 SRY (sex determining region Y)-box 2
SPATA7 spermatogenesis associated 7
SRD5A3 steroid 5 alpha-reductase 3
STRA6 stimulated by retinoic acid 6
TBK1 TANK-binding kinase 1
TDRD7 tudor domain containing 7
TIMP3 TIMP metallopeptidase inhibitor 3
TLR4 toll-like receptor 4
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TRPM1 transient receptor potential cation channel, subfamily M, member 1
TTC8 tetratricopeptide repeat domain 8
TTLL5 tubulin tyrosine ligase-like family member 5
TULP1 tubby like protein 1
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)
VAX1 ventral anterior homeobox 1
VCAN versican
VIM vimentin
VSX2 visual system homeobox 2
WDR19 WD repeat domain 19
WDR36 WD repeat domain 36
WFS1 Wolfram syndrome 1 (wolframin)
ZNF513 zinc finger protein 513