Amblyopia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
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Genes

334 genes co-occuring with the disease Amblyopia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
LYNX1 Ly6/neurotoxin 1 2.678
PVALB parvalbumin 2.464
OTX2 orthodenticle homeobox 2 2.382
PAX6 paired box 6 2.36
CRYGS crystallin, gamma S 2.318
CRYGD crystallin, gamma D 2.304
KIF21A kinesin family member 21A 2.27
GJA8 gap junction protein, alpha 8, 50kDa 2.256
GJA3 gap junction protein, alpha 3, 46kDa 2.249
CRYBB1 crystallin, beta B1 2.247
BFSP2 beaded filament structural protein 2, phakinin 2.221
PRSS56 protease, serine, 56 2.199
FOXE3 forkhead box E3 2.165
BFSP1 beaded filament structural protein 1, filensin 2.133
BDNF brain-derived neurotrophic factor 2.129
CRYBB2 crystallin, beta B2 2.099
GPR143 G protein-coupled receptor 143 2.083
CRYBA1 crystallin, beta A1 2.083
CRYAA crystallin, alpha A 2.081
FRMD7 FERM domain containing 7 2.072
BEST1 bestrophin 1 2.059
HNMT histamine N-methyltransferase 2.049
RPE65 retinal pigment epithelium-specific protein 65kDa 2.045
CRYBB3 crystallin, beta B3 2.03
FOXL2 forkhead box L2 2.015
CNGA3 cyclic nucleotide gated channel alpha 3 1.985
RTN4R reticulon 4 receptor 1.972
FBN1 fibrillin 1 1.966
RS1 retinoschisin 1 1.964
PITX3 paired-like homeodomain 3 1.948
SIRPA signal-regulatory protein alpha 1.941
HSF4 heat shock transcription factor 4 1.929
PHOX2A paired-like homeobox 2a 1.925
RPGR retinitis pigmentosa GTPase regulator 1.921
CRYBA4 crystallin, beta A4 1.921
NYX nyctalopin 1.92
TSPAN10 tetraspanin 10 1.892
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 1.889
MFRP membrane frizzled-related protein 1.884
CRYGA crystallin, gamma A 1.877
CRYGC crystallin, gamma C 1.868
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit 1.827
CNGB3 cyclic nucleotide gated channel beta 3 1.824
NF1 neurofibromin 1 1.819
SLC4A11 solute carrier family 4, sodium borate transporter, member 11 1.809
TDRD7 tudor domain containing 7 1.792
ABCB10 ATP-binding cassette, sub-family B (MDR/TAP), member 10 1.786
TRPM1 transient receptor potential cation channel, subfamily M, member 1 1.754
OPN4 opsin 4 1.752
CEP290 centrosomal protein 290kDa 1.738
CHN1 chimerin 1 1.734
ADAMTSL4 ADAMTS-like 4 1.733
RHO rhodopsin 1.71
GRM6 glutamate receptor, metabotropic 6 1.708
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 1.702
FOXC1 forkhead box C1 1.699
PITX2 paired-like homeodomain 2 1.697
GUCY2D guanylate cyclase 2D, membrane (retina-specific) 1.691
LIM2 lens intrinsic membrane protein 2, 19kDa 1.682
TMEM98 transmembrane protein 98 1.669
CHD7 chromodomain helicase DNA binding protein 7 1.663
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila) 1.642
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1 1.622
B3GLCT beta 3-glucosyltransferase 1.61
OPN1LW opsin 1 (cone pigments), long-wave-sensitive 1.602
CRYAB crystallin, alpha B 1.594
IGF1 insulin-like growth factor 1 (somatomedin C) 1.59
TUBB3 tubulin, beta 3 class III 1.584
RTN4 reticulon 4 1.58
ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 1.566
MIP major intrinsic protein of lens fiber 1.565
GAD1 glutamate decarboxylase 1 (brain, 67kDa) 1.565
PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma 1.563
VIP vasoactive intestinal peptide 1.561
VSX2 visual system homeobox 2 1.547
DLG4 discs, large homolog 4 (Drosophila) 1.543
BRPF1 bromodomain and PHD finger containing, 1 1.541
LYPD6 LY6/PLAUR domain containing 6 1.541
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 1.539
TSPAN12 tetraspanin 12 1.535
MECP2 methyl CpG binding protein 2 1.531
NR2E3 nuclear receptor subfamily 2, group E, member 3 1.528
CRYGB crystallin, gamma B 1.527
NF2 neurofibromin 2 (merlin) 1.525
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 1.522
CRX cone-rod homeobox 1.521
KERA keratocan 1.521
C5ORF52 chromosome 5 open reading frame 52 1.52
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime 1.52
SMAD9 SMAD family member 9 1.517
NTRK2 neurotrophic tyrosine kinase, receptor, type 2 1.511
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1.503
NGF nerve growth factor (beta polypeptide) 1.502
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1.5
GALK1 galactokinase 1 1.477
HESX1 HESX homeobox 1 1.474
B3GAT3 beta-1,3-glucuronyltransferase 3 1.47
GPHN gephyrin 1.466
OCRL oculocerebrorenal syndrome of Lowe 1.465
CPAMD8 C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1.46
FYCO1 FYVE and coiled-coil domain containing 1 1.458
ZNF654 zinc finger protein 654 1.456
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog 1.451
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 1.447
AIPL1 aryl hydrocarbon receptor interacting protein-like 1 1.441
SHOC2 soc-2 suppressor of clear homolog (C. elegans) 1.44
CADM1 cell adhesion molecule 1 1.436
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 1.435
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 1.422
OCA2 oculocutaneous albinism II 1.418
ZNF469 zinc finger protein 469 1.416
SST somatostatin 1.411
XYLT2 xylosyltransferase II 1.408
BCHE butyrylcholinesterase 1.407
SIX6 SIX homeobox 6 1.405
HAPLN1 hyaluronan and proteoglycan link protein 1 1.403
EYA1 EYA transcriptional coactivator and phosphatase 1 1.399
AHI1 Abelson helper integration site 1 1.398
SLC16A12 solute carrier family 16, member 12 1.397
FGFR2 fibroblast growth factor receptor 2 1.389
SIPA1L3 signal-induced proliferation-associated 1 like 3 1.381
PAX2 paired box 2 1.38
OVOL2 ovo-like zinc finger 2 1.377
LTBP2 latent transforming growth factor beta binding protein 2 1.376
OR12D2 olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene) 1.375
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 1.374
SOS1 son of sevenless homolog 1 (Drosophila) 1.371
ACHE acetylcholinesterase (Yt blood group) 1.368
NPHP1 nephronophthisis 1 (juvenile) 1.368
AXL AXL receptor tyrosine kinase 1.368
LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 1.368
CDS1 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 1.367
MAB21L2 mab-21-like 2 (C. elegans) 1.366
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive 1.363
OSCAR osteoclast associated, immunoglobulin-like receptor 1.36
COL8A2 collagen, type VIII, alpha 2 1.36
PRPH2 peripherin 2 (retinal degeneration, slow) 1.357
COL2A1 collagen, type II, alpha 1 1.357
CABP4 calcium binding protein 4 1.353
ESX1 ESX homeobox 1 1.35
DCN decorin 1.35
COL11A1 collagen, type XI, alpha 1 1.346
FAM111A family with sequence similarity 111, member A 1.346
SIX3 SIX homeobox 3 1.341
TMEM67 transmembrane protein 67 1.338
PTPN11 protein tyrosine phosphatase, non-receptor type 11 1.338
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit 1.336
KIAA0586 KIAA0586 1.333
NTF4 neurotrophin 4 1.327
DNAJC30 DnaJ (Hsp40) homolog, subfamily C, member 30 1.327
EFNB1 ephrin-B1 1.326
COL11A2 collagen, type XI, alpha 2 1.322
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1 1.32
GPR179 G protein-coupled receptor 179 1.317
IFNA2 interferon, alpha 2 1.315
EPHA2 EPH receptor A2 1.309
ALMS1 Alstrom syndrome protein 1 1.309
MOG myelin oligodendrocyte glycoprotein 1.308
COL9A3 collagen, type IX, alpha 3 1.307
DNMBP dynamin binding protein 1.3
MYRF myelin regulatory factor 1.299
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 1.298
RP1L1 retinitis pigmentosa 1-like 1 1.297
INS insulin 1.296
CHMP4B charged multivesicular body protein 4B 1.296
TULP1 tubby like protein 1 1.294
ZNF408 zinc finger protein 408 1.29
LRP5 low density lipoprotein receptor-related protein 5 1.288
LSS lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 1.282
AURKA aurora kinase A 1.28
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 1.28
SYN1 synapsin I 1.274
IFNA16 interferon, alpha 16 1.27
IFNA7 interferon, alpha 7 1.269
IFNA10 interferon, alpha 10 1.269
IFNA14 interferon, alpha 14 1.269
IFNA21 interferon, alpha 21 1.269
IFNA6 interferon, alpha 6 1.268
IFNA8 interferon, alpha 8 1.268
IFNA5 interferon, alpha 5 1.267
IFNA13 interferon, alpha 13 1.266
IFNA4 interferon, alpha 4 1.263
CHM choroideremia (Rab escort protein 1) 1.262
IFNA17 interferon, alpha 17 1.255
TRIM8 tripartite motif containing 8 1.251
CYCS cytochrome c, somatic 1.25
RD3L retinal degeneration 3-like 1.248
FGFR3 fibroblast growth factor receptor 3 1.247
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) 1.247
XYLT1 xylosyltransferase I 1.245
SPEM3 SPEM family member 3 1.245
FGF2 fibroblast growth factor 2 (basic) 1.245
OMG oligodendrocyte myelin glycoprotein 1.241
ARR3 arrestin 3, retinal (X-arrestin) 1.24
IQCB1 IQ motif containing B1 1.238
OSTF1 osteoclast stimulating factor 1 1.236
PLXNA2 plexin A2 1.23
NRG1 neuregulin 1 1.227
COL4A1 collagen, type IV, alpha 1 1.224
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma 1.219
CENPVL1 centromere protein V like 1 1.218
LCA5 Leber congenital amaurosis 5 1.216
NDP Norrie disease (pseudoglioma) 1.212
DSE dermatan sulfate epimerase 1.211
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1 1.211
MFSD6L major facilitator superfamily domain containing 6-like 1.209
EFNA5 ephrin-A5 1.206
POLI polymerase (DNA directed) iota 1.199
ECI2 enoyl-CoA delta isomerase 2 1.199
KRT3 keratin 3, type II 1.197
SRPK3 SRSF protein kinase 3 1.195
POMC proopiomelanocortin 1.195
LTBP3 latent transforming growth factor beta binding protein 3 1.193
SLC32A1 solute carrier family 32 (GABA vesicular transporter), member 1 1.193
COL9A1 collagen, type IX, alpha 1 1.19
ELP4 elongator acetyltransferase complex subunit 4 1.188
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 1.188
ACE angiotensin I converting enzyme 1.182
KAT6B K(lysine) acetyltransferase 6B 1.18
FOS FBJ murine osteosarcoma viral oncogene homolog 1.178
FMR1 fragile X mental retardation 1 1.178
USH2A Usher syndrome 2A (autosomal recessive, mild) 1.176
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 1.174
COL18A1 collagen, type XVIII, alpha 1 1.172
ATOH7 atonal homolog 7 (Drosophila) 1.171
KRT12 keratin 12, type I 1.171
GORAB golgin, RAB6-interacting 1.168
TMEM11 transmembrane protein 11 1.167
PROKR2 prokineticin receptor 2 1.167
SOX10 SRY (sex determining region Y)-box 10 1.165
ANKRD11 ankyrin repeat domain 11 1.164
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3 1.161
PLAT plasminogen activator, tissue 1.161
CPA6 carboxypeptidase A6 1.156
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5 1.155
CC2D2A coiled-coil and C2 domain containing 2A 1.152
FZD4 frizzled class receptor 4 1.151
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 1.147
CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 1.146
CRYBA2 crystallin, beta A2 1.144
NR2F1 nuclear receptor subfamily 2, group F, member 1 1.144
RASA2 RAS p21 protein activator 2 1.144
COL4A4 collagen, type IV, alpha 4 1.143
MYOC myocilin, trabecular meshwork inducible glucocorticoid response 1.141
SUOX sulfite oxidase 1.136
CNGB1 cyclic nucleotide gated channel beta 1 1.135
CERKL ceramide kinase-like 1.132
ALB albumin 1.131
NRL neural retina leucine zipper 1.131
NIPBL Nipped-B homolog (Drosophila) 1.13
AGK acylglycerol kinase 1.129
MYO7A myosin VIIA 1.128
GDF6 growth differentiation factor 6 1.123
GJA1 gap junction protein, alpha 1, 43kDa 1.122
DCP1B decapping mRNA 1B 1.122
VSX1 visual system homeobox 1 1.12
ADGRV1 adhesion G protein-coupled receptor V1 1.118
CALB1 calbindin 1, 28kDa 1.118
NPAS4 neuronal PAS domain protein 4 1.117
NAA15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit 1.114
LIPN lipase, family member N 1.114
SALL4 spalt-like transcription factor 4 1.114
SPATA7 spermatogenesis associated 7 1.114
CNTF ciliary neurotrophic factor 1.113
CALB2 calbindin 2 1.111
STRC stereocilin 1.109
TGFB1 transforming growth factor, beta 1 1.108
ELOVL4 ELOVL fatty acid elongase 4 1.107
RNMT RNA (guanine-7-) methyltransferase 1.106
COL4A5 collagen, type IV, alpha 5 1.105
FGF8 fibroblast growth factor 8 (androgen-induced) 1.103
CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 1.102
GRHL2 grainyhead-like 2 (Drosophila) 1.099
RTN4RL1 reticulon 4 receptor-like 1 1.098
SOX2 SRY (sex determining region Y)-box 2 1.095
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta 1.093
IGFBP3 insulin-like growth factor binding protein 3 1.091
ZMIZ1 zinc finger, MIZ-type containing 1 1.088
PRR12 proline rich 12 1.088
SLC45A2 solute carrier family 45, member 2 1.083
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide 1.081
PPFIBP1 PTPRF interacting protein, binding protein 1 (liprin beta 1) 1.08
MERTK MER proto-oncogene, tyrosine kinase 1.075
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 1.072
COL9A2 collagen, type IX, alpha 2 1.071
GJD2 gap junction protein, delta 2, 36kDa 1.069
HRK harakiri, BCL2 interacting protein 1.067
CTDSP2 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 1.06
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2 1.059
CREB1 cAMP responsive element binding protein 1 1.056
SYN2 synapsin II 1.055
SMOC1 SPARC related modular calcium binding 1 1.055
IFNA1 interferon, alpha 1 1.055
HS2ST1 heparan sulfate 2-O-sulfotransferase 1 1.052
FGD1 FYVE, RhoGEF and PH domain containing 1 1.052
DSEL dermatan sulfate epimerase-like 1.049
ROM1 retinal outer segment membrane protein 1 1.048
VAX1 ventral anterior homeobox 1 1.044
PRDM5 PR domain containing 5 1.042
LOC102723502 POTE ankyrin domain family member B-like 1.041
BBS10 Bardet-Biedl syndrome 10 1.041
OR1M1 olfactory receptor, family 1, subfamily M, member 1 1.04
FOXN4 forkhead box N4 1.037
ZMAT4 zinc finger, matrin-type 4 1.037
STRA6 stimulated by retinoic acid 6 1.036
SHH sonic hedgehog 1.035
ACTB actin, beta 1.035
RARS2 arginyl-tRNA synthetase 2, mitochondrial 1.033
BMP4 bone morphogenetic protein 4 1.032
WFS1 Wolfram syndrome 1 (wolframin) 1.031
SYN3 synapsin III 1.03
VAX2 ventral anterior homeobox 2 1.03
EDNRB endothelin receptor type B 1.028
ADAMTSL2 ADAMTS-like 2 1.025
APP amyloid beta (A4) precursor protein 1.025
ACAN aggrecan 1.024
GRIA2 glutamate receptor, ionotropic, AMPA 2 1.024
CA8 carbonic anhydrase VIII 1.023
GRIA1 glutamate receptor, ionotropic, AMPA 1 1.019
TNF tumor necrosis factor 1.018
SOX3 SRY (sex determining region Y)-box 3 1.018
HPS4 Hermansky-Pudlak syndrome 4 1.017
KMT2D lysine (K)-specific methyltransferase 2D 1.014
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 1.013
TGFB2 transforming growth factor, beta 2 1.012
ERBB4 erb-b2 receptor tyrosine kinase 4 1.012
FGF9 fibroblast growth factor 9 1.011
EGF epidermal growth factor 1.011
PRDM13 PR domain containing 13 1.01
SPEM2 SPEM family member 2 1.009
TYR tyrosinase 1.007
NEFL neurofilament, light polypeptide 1.003
FGF17 fibroblast growth factor 17 1.002
BBS1 Bardet-Biedl syndrome 1 1.0