Retinal Diseases Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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Genes

118 genes associated with the Retinal Diseases phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACE angiotensin I converting enzyme
ADGRV1 adhesion G protein-coupled receptor V1
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ALMS1 Alstrom syndrome protein 1
APOA1 apolipoprotein A-I
APOE apolipoprotein E
ARL6 ADP-ribosylation factor-like 6
ARMS2 age-related maculopathy susceptibility 2
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BEST1 bestrophin 1
C2 complement component 2
CA4 carbonic anhydrase IV
CABP4 calcium binding protein 4
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4
CCL2 chemokine (C-C motif) ligand 2
CCL5 chemokine (C-C motif) ligand 5
CCR2 chemokine (C-C motif) receptor 2
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CDH23 cadherin-related 23
CEP290 centrosomal protein 290kDa
CERKL ceramide kinase-like
CFB complement factor B
CFH complement factor H
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
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
CRYBB3 crystallin, beta B3
CX3CR1 chemokine (C-X3-C motif) receptor 1
CXCL12 chemokine (C-X-C motif) ligand 12
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
ELOVL4 ELOVL fatty acid elongase 4
FZD4 frizzled class receptor 4
GJA8 gap junction protein, alpha 8, 50kDa
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
GRM6 glutamate receptor, metabotropic 6
GUCA1A guanylate cyclase activator 1A (retina)
GUCA1B guanylate cyclase activator 1B (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HDAC9 histone deacetylase 9
HLA-B major histocompatibility complex, class I, B
IFNG interferon, gamma
IL10 interleukin 10
IL10RA interleukin 10 receptor, alpha
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
MERTK MER proto-oncogene, tyrosine kinase
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MLH1 mutL homolog 1
MSH2 mutS homolog 2
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MYO7A myosin VIIA
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
NDP Norrie disease (pseudoglioma)
NR2E3 nuclear receptor subfamily 2, group E, member 3
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NRL neural retina leucine zipper
NYX nyctalopin
OCA2 oculocutaneous albinism II
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPN1SW opsin 1 (cone pigments), short-wave-sensitive
OPTN optineurin
PAX3 paired box 3
PAX6 paired box 6
PCDH15 protocadherin-related 15
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
PSMD9 proteasome (prosome, macropain) 26S subunit, non-ATPase, 9
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RDH5 retinol dehydrogenase 5 (11-cis/9-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
RS1 retinoschisin 1
SAG S-antigen; retina and pineal gland (arrestin)
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
TIMP3 TIMP metallopeptidase inhibitor 3
TRIM32 tripartite motif containing 32
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSPAN12 tetraspanin 12
TTC8 tetratricopeptide repeat domain 8
TTPA tocopherol (alpha) transfer protein
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)
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor