retinal disease Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An eye disease that is located_in the retina. (Human Disease Ontology, DOID_5679)
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Genes

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

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABHD12 abhydrolase domain containing 12
ADAM9 ADAM metallopeptidase domain 9
ADGRV1 adhesion G protein-coupled receptor V1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
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)
BEST1 bestrophin 1
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)
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
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
CST3 cystatin C
CX3CR1 chemokine (C-X3-C motif) receptor 1
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
DHDDS dehydrodolichyl diphosphate synthase
ELOVL4 ELOVL fatty acid elongase 4
ERCC6 excision repair cross-complementation group 6
EYS eyes shut homolog (Drosophila)
F13B coagulation factor XIII, B polypeptide
FAM161A family with sequence similarity 161, member A
FBLN5 fibulin 5
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FSCN2 fascin actin-bundling protein 2, retinal
FZD4 frizzled class receptor 4
GDF6 growth differentiation factor 6
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
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
HMCN1 hemicentin 1
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
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
MAK male germ cell-associated kinase
MAP2 microtubule-associated protein 2
MERTK MER proto-oncogene, tyrosine kinase
MFRP membrane frizzled-related protein
MYO7A myosin VIIA
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
NDP Norrie disease (pseudoglioma)
NEK2 NIMA-related kinase 2
NMNAT1 nicotinamide nucleotide adenylyltransferase 1
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
NTF4 neurotrophin 4
NYX nyctalopin
OPTN optineurin
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
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
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)
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
SLC24A1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC7A14 solute carrier family 7, member 14
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SPATA7 spermatogenesis associated 7
TBK1 TANK-binding kinase 1
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)
WDR19 WD repeat domain 19
WDR36 WD repeat domain 36
ZNF513 zinc finger protein 513