Esotropia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description Esotropia is a strabismus in which the eye turns inward toward the nose. (Human Disease Ontology, DOID_9840)
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Genes

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

Symbol Name Standardized Value
KIF21A kinesin family member 21A 2.349
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila) 2.168
PMM2 phosphomannomutase 2 2.152
PHOX2A paired-like homeobox 2a 2.104
CHN1 chimerin 1 1.994
TUBB3 tubulin, beta 3 class III 1.982
PAX6 paired box 6 1.871
TSPAN10 tetraspanin 10 1.848
FAM25C family with sequence similarity 25, member C 1.82
FRMD7 FERM domain containing 7 1.812
LCA5L Leber congenital amaurosis 5-like 1.811
SMAD9 SMAD family member 9 1.801
CRYBA1 crystallin, beta A1 1.796
FOXE3 forkhead box E3 1.792
TRIM8 tripartite motif containing 8 1.771
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma 1.757
GET1 guided entry of tail-anchored proteins factor 1 1.756
UNC80 unc-80 homolog (C. elegans) 1.741
CHD7 chromodomain helicase DNA binding protein 7 1.73
HESX1 HESX homeobox 1 1.729
OTX2 orthodenticle homeobox 2 1.713
XYLT1 xylosyltransferase I 1.71
NR2E3 nuclear receptor subfamily 2, group E, member 3 1.707
ANTXRL anthrax toxin receptor-like 1.706
ALG6 ALG6, alpha-1,3-glucosyltransferase 1.672
MGST2 microsomal glutathione S-transferase 2 1.665
GPR143 G protein-coupled receptor 143 1.663
SALL4 spalt-like transcription factor 4 1.656
MKRN3 makorin ring finger protein 3 1.628
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 1.626
HOXB1 homeobox B1 1.616
SNRPN small nuclear ribonucleoprotein polypeptide N 1.615
KERA keratocan 1.598
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.597
RS1 retinoschisin 1 1.59
FAM25A family with sequence similarity 25, member A 1.575
TUBB2B tubulin, beta 2B class IIb 1.575
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit 1.571
MPI mannose phosphate isomerase 1.57
UNC79 unc-79 homolog (C. elegans) 1.568
ESX1 ESX homeobox 1 1.568
ZNF408 zinc finger protein 408 1.563
MECP2 methyl CpG binding protein 2 1.538
MAGEL2 melanoma antigen family L2 1.527
CACNA1E calcium channel, voltage-dependent, R type, alpha 1E subunit 1.526
TRPM1 transient receptor potential cation channel, subfamily M, member 1 1.522
AGAP9 ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 1.513
CRYBB2 crystallin, beta B2 1.503
PIGK phosphatidylinositol glycan anchor biosynthesis, class K 1.481
RPE65 retinal pigment epithelium-specific protein 65kDa 1.473
ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase 1.469
TSPAN12 tetraspanin 12 1.466
POMT2 protein-O-mannosyltransferase 2 1.461
MUSK muscle, skeletal, receptor tyrosine kinase 1.458
PIGL phosphatidylinositol glycan anchor biosynthesis, class L 1.453
PITX2 paired-like homeodomain 2 1.452
GUCY2D guanylate cyclase 2D, membrane (retina-specific) 1.441
PITX3 paired-like homeodomain 3 1.439
BEST1 bestrophin 1 1.434
COL9A1 collagen, type IX, alpha 1 1.432
PIGT phosphatidylinositol glycan anchor biosynthesis, class T 1.432
B3GAT3 beta-1,3-glucuronyltransferase 3 1.431
ABCB10 ATP-binding cassette, sub-family B (MDR/TAP), member 10 1.416
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 1.406
TTI2 TELO2 interacting protein 2 1.399
MYH13 myosin, heavy chain 13, skeletal muscle 1.395
NAXE NAD(P)HX epimerase 1.393
POMC proopiomelanocortin 1.39
CYLC1 cylicin, basic protein of sperm head cytoskeleton 1 1.39
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) 1.386
CKMT1B creatine kinase, mitochondrial 1B 1.385
CKB creatine kinase, brain 1.382
CKM creatine kinase, muscle 1.381
GJA3 gap junction protein, alpha 3, 46kDa 1.373
AIPL1 aryl hydrocarbon receptor interacting protein-like 1 1.372
PHOX2B paired-like homeobox 2b 1.372
HOXA1 homeobox A1 1.369
SURF1 surfeit 1 1.369
SYT1 synaptotagmin I 1.367
PKIA protein kinase (cAMP-dependent, catalytic) inhibitor alpha 1.364
NPLOC4 nuclear protein localization 4 homolog (S. cerevisiae) 1.362
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit 1.354
PCDHGC4 protocadherin gamma subfamily C, 4 1.354
CRYBA4 crystallin, beta A4 1.353
COL11A1 collagen, type XI, alpha 1 1.349
TMEM11 transmembrane protein 11 1.345
TUBA1A tubulin, alpha 1a 1.338
KMT2D lysine (K)-specific methyltransferase 2D 1.328
CHAMP1 chromosome alignment maintaining phosphoprotein 1 1.324
NALCN sodium leak channel, non selective 1.319
B3GLCT beta 3-glucosyltransferase 1.317
PAX2 paired box 2 1.313
FKTN fukutin 1.304
VSX2 visual system homeobox 2 1.302
GDF6 growth differentiation factor 6 1.301
PRAMEF25 PRAME family member 25 1.294
SLC38A8 solute carrier family 38, member 8 1.291
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 1.283
SALL1 spalt-like transcription factor 1 1.281
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5 1.278
POMT1 protein-O-mannosyltransferase 1 1.278
CRX cone-rod homeobox 1.276
GLRA1 glycine receptor, alpha 1 1.271
TENM3 teneurin transmembrane protein 3 1.268
IGF1 insulin-like growth factor 1 (somatomedin C) 1.264
ELP4 elongator acetyltransferase complex subunit 4 1.259
CRYBB3 crystallin, beta B3 1.257
OCA2 oculocutaneous albinism II 1.255
NDP Norrie disease (pseudoglioma) 1.255
EXOSC8 exosome component 8 1.249
FOXC1 forkhead box C1 1.249
FMR1 fragile X mental retardation 1 1.245
CEP290 centrosomal protein 290kDa 1.245
CRYAA crystallin, alpha A 1.243
EBP emopamil binding protein (sterol isomerase) 1.242
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2 1.238
PCDH12 protocadherin 12 1.237
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1.23
BFSP2 beaded filament structural protein 2, phakinin 1.229
SHH sonic hedgehog 1.229
EXOSC9 exosome component 9 1.229
PIGH phosphatidylinositol glycan anchor biosynthesis, class H 1.227
PRAMEF14 PRAME family member 14 1.222
OR1M1 olfactory receptor, family 1, subfamily M, member 1 1.219
CRYBB1 crystallin, beta B1 1.217
STRA6 stimulated by retinoic acid 6 1.215
PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q 1.214
GDF3 growth differentiation factor 3 1.213
SGSH N-sulfoglucosamine sulfohydrolase 1.21
GJA8 gap junction protein, alpha 8, 50kDa 1.208
BRAT1 BRCA1-associated ATM activator 1 1.204
SIL1 SIL1 nucleotide exchange factor 1.204
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 1.203
KIF11 kinesin family member 11 1.203
COL2A1 collagen, type II, alpha 1 1.2
CRYGD crystallin, gamma D 1.198
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1 1.196
ALDH1A3 aldehyde dehydrogenase 1 family, member A3 1.187
SOX2 SRY (sex determining region Y)-box 2 1.187
PRSS56 protease, serine, 56 1.185
FZD4 frizzled class receptor 4 1.182
GLRB glycine receptor, beta 1.179
SIX3 SIX homeobox 3 1.178
MPLKIP M-phase specific PLK1 interacting protein 1.176
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 1.176
OR4L1 olfactory receptor, family 4, subfamily L, member 1 1.175
SMG9 SMG9 nonsense mediated mRNA decay factor 1.175
EDN2 endothelin 2 1.173
CCNQ cyclin Q 1.172
PURA purine-rich element binding protein A 1.172
WNT2 wingless-type MMTV integration site family member 2 1.17
PIGY phosphatidylinositol glycan anchor biosynthesis, class Y 1.169
ALG3 ALG3, alpha-1,3- mannosyltransferase 1.168
NF1 neurofibromin 1 1.167
GMPPB GDP-mannose pyrophosphorylase B 1.167
EXOSC5 exosome component 5 1.167
NYX nyctalopin 1.166
ACTG1 actin gamma 1 1.161
NAA15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit 1.161
GTF2IRD1 GTF2I repeat domain containing 1 1.161
UBE3A ubiquitin protein ligase E3A 1.16
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide 1.158
KCNV1 potassium channel, voltage gated modifier subfamily V, member 1 1.158
MYOD1 myogenic differentiation 1 1.156
COL9A2 collagen, type IX, alpha 2 1.155
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter) 1.152
B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 1.151
PLXND1 plexin D1 1.151
PRUNE1 prune exopolyphosphatase 1 1.15
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3 1.149
NIPBL Nipped-B homolog (Drosophila) 1.146
GOLGA8R golgin A8 family, member R 1.145
TUBB6 tubulin, beta 6 class V 1.142
SLITRK2 SLIT and NTRK-like family, member 2 1.141
COL4A1 collagen, type IV, alpha 1 1.14
POLG polymerase (DNA directed), gamma 1.134
NR2F1 nuclear receptor subfamily 2, group F, member 1 1.128
COG8 component of oligomeric golgi complex 8 1.128
DOLK dolichol kinase 1.126
KDM6A lysine (K)-specific demethylase 6A 1.125
C12ORF56 chromosome 12 open reading frame 56 1.122
NGLY1 N-glycanase 1 1.121
GMPPA GDP-mannose pyrophosphorylase A 1.12
NDN necdin, melanoma antigen (MAGE) family member 1.119
RPGR retinitis pigmentosa GTPase regulator 1.117
TSEN54 TSEN54 tRNA splicing endonuclease subunit 1.116
AHDC1 AT hook, DNA binding motif, containing 1 1.115
CDKL5 cyclin-dependent kinase-like 5 1.114
MRPS34 mitochondrial ribosomal protein S34 1.107
MYH14 myosin, heavy chain 14, non-muscle 1.107
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) 1.105
DNPH1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 1.103
CLCN4 chloride channel, voltage-sensitive 4 1.101
SCN2A sodium channel, voltage gated, type II alpha subunit 1.101
UFSP2 UFM1-specific peptidase 2 1.1
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1) 1.1
PROKR2 prokineticin receptor 2 1.098
ATP9A ATPase, class II, type 9A 1.096
PRELID1 PRELI domain containing 1 1.096
HS2ST1 heparan sulfate 2-O-sulfotransferase 1 1.095
BMP4 bone morphogenetic protein 4 1.094
TYR tyrosinase 1.093
CRYGS crystallin, gamma S 1.091
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 1.087
CPA6 carboxypeptidase A6 1.087
VAX1 ventral anterior homeobox 1 1.086
HPS3 Hermansky-Pudlak syndrome 3 1.086
RERE arginine-glutamic acid dipeptide (RE) repeats 1.083
XYLT2 xylosyltransferase II 1.083
LEMD3 LEM domain containing 3 1.08
PSMG1 proteasome (prosome, macropain) assembly chaperone 1 1.079
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 1.078
ADAT3 adenosine deaminase, tRNA-specific 3 1.077
COL11A2 collagen, type XI, alpha 2 1.077
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog 1.076
IQSEC2 IQ motif and Sec7 domain 2 1.074
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 1.072
TUBB4A tubulin, beta 4A class IVa 1.071
SIM1 single-minded family bHLH transcription factor 1 1.071
SCN1A sodium channel, voltage gated, type I alpha subunit 1.067
ADAMTSL2 ADAMTS-like 2 1.067
CANT1 calcium activated nucleotidase 1 1.062
COL9A3 collagen, type IX, alpha 3 1.062
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase 1.061
PACS1 phosphofurin acidic cluster sorting protein 1 1.059
PGAP2 post-GPI attachment to proteins 2 1.054
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 1.053
FBXO48 F-box protein 48 1.049
RXYLT1 ribitol xylosyltransferase 1 1.048
TUBGCP6 tubulin, gamma complex associated protein 6 1.048
RET ret proto-oncogene 1.04
COX20 COX20 cytochrome c oxidase assembly factor 1.034
CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 1.033
EXOSC3 exosome component 3 1.027
CP ceruloplasmin (ferroxidase) 1.026
CEP85L centrosomal protein 85kDa-like 1.025
WDR73 WD repeat domain 73 1.025
NPY4R2 neuropeptide Y receptor Y4-2 1.021
RARB retinoic acid receptor, beta 1.02
LRP2 low density lipoprotein receptor-related protein 2 1.019
NRXN1 neurexin 1 1.019
AHI1 Abelson helper integration site 1 1.017
CABP4 calcium binding protein 4 1.014
FOXL2 forkhead box L2 1.012
SPRYD3 SPRY domain containing 3 1.012
COL25A1 collagen, type XXV, alpha 1 1.011
EFNB1 ephrin-B1 1.01
UFSP1 UFM1-specific peptidase 1 (non-functional) 1.008
SNURF SNRPN upstream reading frame 1.006
EML1 echinoderm microtubule associated protein like 1 1.005
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2 1.005
SOX3 SRY (sex determining region Y)-box 3 1.002
EXOSC1 exosome component 1 1.0
MYH1 myosin, heavy chain 1, skeletal muscle, adult 1.0
ADGRG1 adhesion G protein-coupled receptor G1 1.0