Scotoma Gene Set

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

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

Symbol Name Standardized Value
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 3.048
RPGR retinitis pigmentosa GTPase regulator 2.649
RCVRN recoverin 2.64
PRPH2 peripherin 2 (retinal degeneration, slow) 2.493
TMEM126A transmembrane protein 126A 2.436
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 2.431
CNGA3 cyclic nucleotide gated channel alpha 3 2.428
RPE65 retinal pigment epithelium-specific protein 65kDa 2.425
CNGB3 cyclic nucleotide gated channel beta 3 2.424
RHO rhodopsin 2.417
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2 2.366
USH2A Usher syndrome 2A (autosomal recessive, mild) 2.336
MOG myelin oligodendrocyte glycoprotein 2.323
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime 2.289
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2 2.285
GUCY2D guanylate cyclase 2D, membrane (retina-specific) 2.283
RP1L1 retinitis pigmentosa 1-like 1 2.27
OPN4 opsin 4 2.25
BEST1 bestrophin 1 2.226
CDHR1 cadherin-related family member 1 2.225
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 2.218
EYS eyes shut homolog (Drosophila) 2.213
TULP1 tubby like protein 1 2.2
NR2E3 nuclear receptor subfamily 2, group E, member 3 2.186
DNAJC30 DnaJ (Hsp40) homolog, subfamily C, member 30 2.135
ELOVL4 ELOVL fatty acid elongase 4 2.131
ARMS2 age-related maculopathy susceptibility 2 2.126
CRX cone-rod homeobox 2.123
CERKL ceramide kinase-like 2.122
PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma 2.12
CRP C-reactive protein, pentraxin-related 2.085
RLBP1 retinaldehyde binding protein 1 2.077
CFH complement factor H 2.075
PRPF31 pre-mRNA processing factor 31 2.075
WFS1 Wolfram syndrome 1 (wolframin) 2.068
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 2.014
ACE angiotensin I converting enzyme 1.991
ROM1 retinal outer segment membrane protein 1 1.954
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 1.954
CDS1 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 1.946
RTN4IP1 reticulon 4 interacting protein 1 1.93
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta 1.918
SAG S-antigen; retina and pineal gland (arrestin) 1.894
MYOC myocilin, trabecular meshwork inducible glucocorticoid response 1.886
PCARE photoreceptor cilium actin regulator 1.877
RDH5 retinol dehydrogenase 5 (11-cis/9-cis) 1.87
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide 1.865
CEP290 centrosomal protein 290kDa 1.839
CNTF ciliary neurotrophic factor 1.835
IMPG1 interphotoreceptor matrix proteoglycan 1 1.829
RAX2 retina and anterior neural fold homeobox 2 1.806
ARSG arylsulfatase G 1.805
CLRN1 clarin 1 1.801
AIPL1 aryl hydrocarbon receptor interacting protein-like 1 1.798
NXNL1 nucleoredoxin-like 1 1.795
TTLL5 tubulin tyrosine ligase-like family member 5 1.787
WDR36 WD repeat domain 36 1.772
ENO1 enolase 1, (alpha) 1.769
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit 1.76
TRPM1 transient receptor potential cation channel, subfamily M, member 1 1.753
CA2 carbonic anhydrase II 1.747
MYO7A myosin VIIA 1.733
RAB28 RAB28, member RAS oncogene family 1.732
AFG3L2 AFG3-like AAA ATPase 2 1.729
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1 1.705
GUCA1A guanylate cyclase activator 1A (retina) 1.702
RS1 retinoschisin 1 1.699
MFN2 mitofusin 2 1.699
DPYSL5 dihydropyrimidinase-like 5 1.695
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha 1.686
RIMS1 regulating synaptic membrane exocytosis 1 1.684
USH1G Usher syndrome 1G (autosomal recessive) 1.684
IQCB1 IQ motif containing B1 1.682
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1.678
CHM choroideremia (Rab escort protein 1) 1.672
SIX6 SIX homeobox 6 1.669
CLN3 ceroid-lipofuscinosis, neuronal 3 1.666
PCDH15 protocadherin-related 15 1.657
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) 1.645
PLAT plasminogen activator, tissue 1.625
USH1C Usher syndrome 1C (autosomal recessive, severe) 1.624
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) 1.621
PGF placental growth factor 1.616
CISD2 CDGSH iron sulfur domain 2 1.613
CDH23 cadherin-related 23 1.603
TTLL10 tubulin tyrosine ligase-like family member 10 1.603
ATXN7 ataxin 7 1.603
WHRN whirlin 1.6
OPTC opticin 1.595
NRL neural retina leucine zipper 1.594
FSCN2 fascin actin-bundling protein 2, retinal 1.591
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1 1.588
RBP3 retinol binding protein 3, interstitial 1.584
F2 coagulation factor II (thrombin) 1.576
HNMT histamine N-methyltransferase 1.575
OPA1 optic atrophy 1 (autosomal dominant) 1.574
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 1.571
CNGA1 cyclic nucleotide gated channel alpha 1 1.567
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) 1.562
ABHD12 abhydrolase domain containing 12 1.56
RCC1L RCC1 like 1.557
TMCO1 transmembrane and coiled-coil domains 1 1.552
PRPF8 pre-mRNA processing factor 8 1.55
CFAP410 cilia and flagella associated protein 410 1.547
CEP78 centrosomal protein 78kDa 1.547
GUCA1B guanylate cyclase activator 1B (retina) 1.54
MERTK MER proto-oncogene, tyrosine kinase 1.537
ARR3 arrestin 3, retinal (X-arrestin) 1.528
TIMP3 TIMP metallopeptidase inhibitor 3 1.524
PDZD7 PDZ domain containing 7 1.524
BBS1 Bardet-Biedl syndrome 1 1.504
NR3C2 nuclear receptor subfamily 3, group C, member 2 1.502
CNGB1 cyclic nucleotide gated channel beta 1 1.5
PRTN3 proteinase 3 1.496
IMPG2 interphotoreceptor matrix proteoglycan 2 1.495
PRDM13 PR domain containing 13 1.492
ACO2 aconitase 2, mitochondrial 1.492
CYCS cytochrome c, somatic 1.488
ADGRV1 adhesion G protein-coupled receptor V1 1.48
FAM161A family with sequence similarity 161, member A 1.477
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive 1.473
SCN1A sodium channel, voltage gated, type I alpha subunit 1.463
SPATA7 spermatogenesis associated 7 1.46
NEFL neurofilament, light polypeptide 1.458
PNMA2 paraneoplastic Ma antigen 2 1.457
RP9 retinitis pigmentosa 9 (autosomal dominant) 1.454
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 1.453
ASB10 ankyrin repeat and SOCS box containing 10 1.446
KIZ kizuna centrosomal protein 1.444
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 1.441
CFI complement factor I 1.441
CFB complement factor B 1.439
STT3A STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 1.435
BDNF brain-derived neurotrophic factor 1.429
ATOH7 atonal homolog 7 (Drosophila) 1.428
PROM1 prominin 1 1.426
CIB2 calcium and integrin binding family member 2 1.42
KLHL7 kelch-like family member 7 1.412
IL6 interleukin 6 1.409
CD4 CD4 molecule 1.406
ALB albumin 1.401
GRK7 G protein-coupled receptor kinase 7 1.396
PRPF3 pre-mRNA processing factor 3 1.395
YME1L1 YME1-like 1 ATPase 1.394
OSTF1 osteoclast stimulating factor 1 1.39
TNF tumor necrosis factor 1.384
C3 complement component 3 1.383
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 1.383
SMAD9 SMAD family member 9 1.378
LCA5 Leber congenital amaurosis 5 1.378
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 1.377
POC1B POC1 centriolar protein B 1.356
HTR1B 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled 1.347
CABP4 calcium binding protein 4 1.34
MBP myelin basic protein 1.337
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase 1.332
RAB6A RAB6A, member RAS oncogene family 1.331
DRAM2 DNA-damage regulated autophagy modulator 2 1.327
GRK1 G protein-coupled receptor kinase 1 1.325
OPN1LW opsin 1 (cone pigments), long-wave-sensitive 1.319
EDN1 endothelin 1 1.317
OPTN optineurin 1.309
PAX6 paired box 6 1.299
PITPNM3 PITPNM family member 3 1.297
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 1.29
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 1.289
ACE2 angiotensin I converting enzyme 2 1.288
NMNAT1 nicotinamide nucleotide adenylyltransferase 1 1.279
IFNA2 interferon, alpha 2 1.277
GRM6 glutamate receptor, metabotropic 6 1.266
ADI1 acireductone dioxygenase 1 1.265
NYX nyctalopin 1.262
IFNB1 interferon, beta 1, fibroblast 1.26
AMPH amphiphysin 1.26
LOXL1 lysyl oxidase-like 1 1.259
IFNA16 interferon, alpha 16 1.257
SLC24A1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 1.257
IFNA21 interferon, alpha 21 1.256
IFNA10 interferon, alpha 10 1.256
IFNA7 interferon, alpha 7 1.256
IFNA14 interferon, alpha 14 1.256
IFNA6 interferon, alpha 6 1.255
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) 1.255
IFNA8 interferon, alpha 8 1.255
IFNA5 interferon, alpha 5 1.254
IFNA13 interferon, alpha 13 1.253
OTX2 orthodenticle homeobox 2 1.252
IFNA4 interferon, alpha 4 1.251
NGF nerve growth factor (beta polypeptide) 1.249
CAV2 caveolin 2 1.246
INS insulin 1.243
FLVCR1 feline leukemia virus subgroup C cellular receptor 1 1.239
TTPA tocopherol (alpha) transfer protein 1.237
RCBTB1 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 1.227
IFNA17 interferon, alpha 17 1.227
POLG polymerase (DNA directed), gamma 1.223
FLT1 fms-related tyrosine kinase 1 1.223
MFSD8 major facilitator superfamily domain containing 8 1.221
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary) 1.221
MCAT malonyl CoA:ACP acyltransferase (mitochondrial) 1.212
F3 coagulation factor III (thromboplastin, tissue factor) 1.21
IL1B interleukin 1, beta 1.207
ADAM9 ADAM metallopeptidase domain 9 1.206
WDR19 WD repeat domain 19 1.206
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5) 1.203
DNM1L dynamin 1-like 1.203
FGF2 fibroblast growth factor 2 (basic) 1.2
UNC119 unc-119 homolog (C. elegans) 1.198
OFD1 oral-facial-digital syndrome 1 1.197
NOTCH3 notch 3 1.196
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 1.194
PSD2 pleckstrin and Sec7 domain containing 2 1.192
VEGFB vascular endothelial growth factor B 1.189
TAC1 tachykinin, precursor 1 1.189
PDE5A phosphodiesterase 5A, cGMP-specific 1.185
IFNA1 interferon, alpha 1 1.181
TWNK twinkle mtDNA helicase 1.179
BBS2 Bardet-Biedl syndrome 2 1.176
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 1.175
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 1.173
VSX2 visual system homeobox 2 1.169
ANGPT2 angiopoietin 2 1.169
SLC25A46 solute carrier family 25, member 46 1.162
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa 1.159
CFHR1 complement factor H-related 1 1.157
ZIC4 Zic family member 4 1.154
IFNG interferon, gamma 1.149
MECR mitochondrial trans-2-enoyl-CoA reductase 1.148
PRRT2 proline-rich transmembrane protein 2 1.147
ATF6 activating transcription factor 6 1.147
DMAC2L distal membrane arm assembly component 2 like 1.137
BIN1 bridging integrator 1 1.137
POU4F2 POU class 4 homeobox 2 1.128
CD8A CD8a molecule 1.121
PRXL2A peroxiredoxin like 2A 1.118
BANF1 barrier to autointegration factor 1 1.107
PVALB parvalbumin 1.105
CD46 CD46 molecule, complement regulatory protein 1.105
ZNF513 zinc finger protein 513 1.103
PLG plasminogen 1.099
RGS9BP regulator of G protein signaling 9 binding protein 1.097
CD59 CD59 molecule, complement regulatory protein 1.093
NPHP4 nephronophthisis 4 1.088
SIX1 SIX homeobox 1 1.085
SAMD11 sterile alpha motif domain containing 11 1.075
CEP250 centrosomal protein 250kDa 1.071
IGF1 insulin-like growth factor 1 (somatomedin C) 1.071
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma 1.07
DHDDS dehydrodolichyl diphosphate synthase 1.069
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit 1.066
RAMP1 receptor (G protein-coupled) activity modifying protein 1 1.066
C5 complement component 5 1.062
POMC proopiomelanocortin 1.058
ALDH7A1 aldehyde dehydrogenase 7 family, member A1 1.054
HTR1D 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled 1.051
PF4 platelet factor 4 1.05
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 1.048
TTC8 tetratricopeptide repeat domain 8 1.048
NPIPA5 nuclear pore complex interacting protein family, member A5 1.045
OMA1 OMA1 zinc metallopeptidase 1.044
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 1.041
BBS10 Bardet-Biedl syndrome 10 1.029
NF1 neurofibromin 1 1.028
CCL2 chemokine (C-C motif) ligand 2 1.027
MPO myeloperoxidase 1.025
RDH8 retinol dehydrogenase 8 (all-trans) 1.024
CKB creatine kinase, brain 1.023
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 1.022
CHML choroideremia-like (Rab escort protein 2) 1.017
APOE apolipoprotein E 1.017
CDH15 cadherin 15, type 1, M-cadherin (myotubule) 1.014
PEX7 peroxisomal biogenesis factor 7 1.013
PARL presenilin associated, rhomboid-like 1.012
CKMT1B creatine kinase, mitochondrial 1B 1.008
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 1.006
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide 1.004
CKM creatine kinase, muscle 1.004
FN1 fibronectin 1 1.004
FXN frataxin 1.003
POU4F1 POU class 4 homeobox 1 1.003
AHI1 Abelson helper integration site 1 1.002
HTRA1 HtrA serine peptidase 1 1.002