Aniridia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_12271)
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Genes

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

Symbol Name Standardized Value
PAX6 paired box 6 3.972
ELP4 elongator acetyltransferase complex subunit 4 3.095
WT1 Wilms tumor 1 3.07
PITX2 paired-like homeodomain 2 2.953
FOXC1 forkhead box C1 2.949
FOXE3 forkhead box E3 2.86
DCDC1 doublecortin domain containing 1 2.734
KRT12 keratin 12, type I 2.709
KRT3 keratin 3, type II 2.6
SLC38A8 solute carrier family 38, member 8 2.576
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 2.533
PITX3 paired-like homeodomain 3 2.504
IMMP1L IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) 2.456
VSX2 visual system homeobox 2 2.409
DNAJC24 DnaJ (Hsp40) homolog, subfamily C, member 24 2.353
SIX3 SIX homeobox 3 2.33
PRRG4 proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane) 2.319
OTX2 orthodenticle homeobox 2 2.29
CPAMD8 C3 and PZP-like, alpha-2-macroglobulin domain containing 8 2.285
B3GLCT beta 3-glucosyltransferase 2.277
MPPED2 metallophosphoesterase domain containing 2 2.27
GJA8 gap junction protein, alpha 8, 50kDa 2.255
PAX2 paired box 2 2.248
CRYBA4 crystallin, beta A4 2.225
MYOC myocilin, trabecular meshwork inducible glucocorticoid response 2.207
LTBP2 latent transforming growth factor beta binding protein 2 2.2
CRYGD crystallin, gamma D 2.171
FRMD7 FERM domain containing 7 2.155
CRYBB2 crystallin, beta B2 2.152
LUZP2 leucine zipper protein 2 2.113
MAB21L2 mab-21-like 2 (C. elegans) 2.109
CRYBB1 crystallin, beta B1 2.105
CRYAA crystallin, alpha A 2.092
LTBP3 latent transforming growth factor beta binding protein 3 2.06
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1 2.043
TRIM44 tripartite motif containing 44 2.043
CRYBB3 crystallin, beta B3 2.034
GJA3 gap junction protein, alpha 3, 46kDa 2.027
MAB21L1 mab-21-like 1 (C. elegans) 2.002
FSHB follicle stimulating hormone, beta polypeptide 1.999
CRYBA1 crystallin, beta A1 1.996
SOX2 SRY (sex determining region Y)-box 2 1.984
BFSP1 beaded filament structural protein 1, filensin 1.975
KERA keratocan 1.925
GPR143 G protein-coupled receptor 143 1.92
EYA1 EYA transcriptional coactivator and phosphatase 1 1.916
FOXD3 forkhead box D3 1.912
HCCS holocytochrome c synthase 1.881
BFSP2 beaded filament structural protein 2, phakinin 1.869
VAX2 ventral anterior homeobox 2 1.862
CRYGS crystallin, gamma S 1.856
BDNF brain-derived neurotrophic factor 1.846
ATOH7 atonal homolog 7 (Drosophila) 1.84
ARL14EP ADP-ribosylation factor-like 14 effector protein 1.839
MEIS2 Meis homeobox 2 1.833
PAX1 paired box 1 1.817
SOX9 SRY (sex determining region Y)-box 9 1.808
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog 1.807
ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 1.806
CD200 CD200 molecule 1.803
BMP4 bone morphogenetic protein 4 1.801
KRT15 keratin 15, type I 1.795
SLC16A12 solute carrier family 16, member 12 1.771
SHH sonic hedgehog 1.767
SLC4A11 solute carrier family 4, sodium borate transporter, member 11 1.75
ADAMTSL4 ADAMTS-like 4 1.75
PAX3 paired box 3 1.721
STRA6 stimulated by retinoic acid 6 1.715
KRT13 keratin 13, type I 1.711
SIX6 SIX homeobox 6 1.679
HSF4 heat shock transcription factor 4 1.679
CRYGC crystallin, gamma C 1.674
TDRD7 tudor domain containing 7 1.664
LMX1B LIM homeobox transcription factor 1, beta 1.655
DNMBP dynamin binding protein 1.649
RPE65 retinal pigment epithelium-specific protein 65kDa 1.645
PRSS56 protease, serine, 56 1.64
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) 1.627
SOX3 SRY (sex determining region Y)-box 3 1.621
ABCB5 ATP-binding cassette, sub-family B (MDR/TAP), member 5 1.619
CRYBA2 crystallin, beta A2 1.617
FBN1 fibrillin 1 1.605
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 1.601
LGR4 leucine-rich repeat containing G protein-coupled receptor 4 1.596
LHX2 LIM homeobox 2 1.594
PAX4 paired box 4 1.592
RAX retina and anterior neural fold homeobox 1.588
AMER1 APC membrane recruitment protein 1 1.586
WDR36 WD repeat domain 36 1.583
COL4A1 collagen, type IV, alpha 1 1.582
IGF2 insulin-like growth factor 2 1.579
CRYAB crystallin, alpha B 1.575
CRX cone-rod homeobox 1.569
GDF6 growth differentiation factor 6 1.565
SPINK7 serine peptidase inhibitor, Kazal type 7 (putative) 1.56
ALX4 ALX homeobox 4 1.552
VSX1 visual system homeobox 1 1.551
TMEM114 transmembrane protein 114 1.539
SRY sex determining region Y 1.537
GJA1 gap junction protein, alpha 1, 43kDa 1.536
RCN1 reticulocalbin 1, EF-hand calcium binding domain 1.523
SH2B3 SH2B adaptor protein 3 1.522
POU4F2 POU class 4 homeobox 2 1.515
P3H2 prolyl 3-hydroxylase 2 1.508
OTX1 orthodenticle homeobox 1 1.501
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 1.496
CTCF CCCTC-binding factor (zinc finger protein) 1.491
OCA2 oculocutaneous albinism II 1.49
DIS3L2 DIS3 like 3'-5' exoribonuclease 2 1.49
ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 1.486
SIM1 single-minded family bHLH transcription factor 1 1.483
HESX1 HESX homeobox 1 1.479
LMBR1 limb development membrane protein 1 1.475
OTP orthopedia homeobox 1.471
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 1.47
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1.468
FOXL2 forkhead box L2 1.457
SIX1 SIX homeobox 1 1.453
NTRK2 neurotrophic tyrosine kinase, receptor, type 2 1.449
CHD7 chromodomain helicase DNA binding protein 7 1.448
EGF epidermal growth factor 1.439
TRIM8 tripartite motif containing 8 1.437
PHF21A PHD finger protein 21A 1.43
NR5A1 nuclear receptor subfamily 5, group A, member 1 1.429
MITF microphthalmia-associated transcription factor 1.426
ALDH1A3 aldehyde dehydrogenase 1 family, member A3 1.418
NEUROG2 neurogenin 2 1.416
WNT7A wingless-type MMTV integration site family, member 7A 1.413
USH2A Usher syndrome 2A (autosomal recessive, mild) 1.406
INS insulin 1.406
ALMS1 Alstrom syndrome protein 1 1.405
BMP7 bone morphogenetic protein 7 1.395
SIX2 SIX homeobox 2 1.385
LUM lumican 1.384
RHO rhodopsin 1.383
EXT2 exostosin glycosyltransferase 2 1.381
TYR tyrosinase 1.38
MC4R melanocortin 4 receptor 1.377
CRYGA crystallin, gamma A 1.368
FOXC2 forkhead box C2 1.366
KRT14 keratin 14, type I 1.357
WFS1 Wolfram syndrome 1 (wolframin) 1.347
NF1 neurofibromin 1 1.343
RPGR retinitis pigmentosa GTPase regulator 1.34
SOX10 SRY (sex determining region Y)-box 10 1.338
DMBX1 diencephalon/mesencephalon homeobox 1 1.337
TBR1 T-box, brain, 1 1.335
SOX11 SRY (sex determining region Y)-box 11 1.333
BEST1 bestrophin 1 1.33
FYCO1 FYVE and coiled-coil domain containing 1 1.326
NEUROD1 neuronal differentiation 1 1.324
FAM161A family with sequence similarity 161, member A 1.323
CREB3 cAMP responsive element binding protein 3 1.318
VAX1 ventral anterior homeobox 1 1.317
RARB retinoic acid receptor, beta 1.315
LIM2 lens intrinsic membrane protein 2, 19kDa 1.315
MIP major intrinsic protein of lens fiber 1.315
RDH10 retinol dehydrogenase 10 (all-trans) 1.313
PAX7 paired box 7 1.31
KRT19 keratin 19, type I 1.307
GSX2 GS homeobox 2 1.303
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2 1.295
CNGB3 cyclic nucleotide gated channel beta 3 1.29
EPHA2 EPH receptor A2 1.286
PATE2 prostate and testis expressed 2 1.286
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group) 1.284
FGF2 fibroblast growth factor 2 (basic) 1.284
TGFB1 transforming growth factor, beta 1 1.282
ALDH3A1 aldehyde dehydrogenase 3 family, member A1 1.281
ESX1 ESX homeobox 1 1.28
MEIS1 Meis homeobox 1 1.28
COL18A1 collagen, type XVIII, alpha 1 1.277
RAI1 retinoic acid induced 1 1.273
TEDDM1 transmembrane epididymal protein 1 1.269
EMX1 empty spiracles homeobox 1 1.267
POU5F1 POU class 5 homeobox 1 1.256
OR8J1 olfactory receptor, family 8, subfamily J, member 1 1.255
GALK1 galactokinase 1 1.254
EMX2 empty spiracles homeobox 2 1.252
FGF7 fibroblast growth factor 7 1.247
CTR9 CTR9, Paf1/RNA polymerase II complex component 1.247
ASCL1 achaete-scute family bHLH transcription factor 1 1.246
GUCA1C guanylate cyclase activator 1C 1.242
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2) 1.239
NDP Norrie disease (pseudoglioma) 1.238
TP53 tumor protein p53 1.234
PTF1A pancreas specific transcription factor, 1a 1.234
SMAD9 SMAD family member 9 1.23
GPATCH3 G patch domain containing 3 1.227
KRT4 keratin 4, type II 1.225
CHM choroideremia (Rab escort protein 1) 1.224
PATE4 prostate and testis expressed 4 1.222
COL8A2 collagen, type VIII, alpha 2 1.22
NKX6-2 NK6 homeobox 2 1.218
IRX3 iroquois homeobox 3 1.218
SMOC1 SPARC related modular calcium binding 1 1.216
OPTN optineurin 1.216
TRIM28 tripartite motif containing 28 1.21
FREM1 FRAS1 related extracellular matrix 1 1.207
PRDM5 PR domain containing 5 1.204
IRX6 iroquois homeobox 6 1.204
ACTA2 actin, alpha 2, smooth muscle, aorta 1.199
TRAM1L1 translocation associated membrane protein 1-like 1 1.197
FOXG1 forkhead box G1 1.197
COL4A5 collagen, type IV, alpha 5 1.197
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 1.187
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 1.186
CEP290 centrosomal protein 290kDa 1.179
TTLL5 tubulin tyrosine ligase-like family member 5 1.179
SOX1 SRY (sex determining region Y)-box 1 1.179
NR2E3 nuclear receptor subfamily 2, group E, member 3 1.176
GUCY2D guanylate cyclase 2D, membrane (retina-specific) 1.176
TYRP1 tyrosinase-related protein 1 1.175
TTLL10 tubulin tyrosine ligase-like family member 10 1.171
CNGA3 cyclic nucleotide gated channel alpha 3 1.17
ASB10 ankyrin repeat and SOCS box containing 10 1.167
ZSCAN10 zinc finger and SCAN domain containing 10 1.165
GAPDH glyceraldehyde-3-phosphate dehydrogenase 1.162
COL11A1 collagen, type XI, alpha 1 1.16
FGF8 fibroblast growth factor 8 (androgen-induced) 1.16
TGFBI transforming growth factor, beta-induced, 68kDa 1.16
MBD5 methyl-CpG binding domain protein 5 1.159
MUC5AC mucin 5AC, oligomeric mucus/gel-forming 1.157
SAMD7 sterile alpha motif domain containing 7 1.155
WNT4 wingless-type MMTV integration site family, member 4 1.153
KDM2B lysine (K)-specific demethylase 2B 1.152
TSPAN12 tetraspanin 12 1.151
TGFB2 transforming growth factor, beta 2 1.15
TBX1 T-box 1 1.146
EOMES eomesodermin 1.145
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 1.141
CPVL carboxypeptidase, vitellogenic-like 1.141
ACP1 acid phosphatase 1, soluble 1.139
DMRT1 doublesex and mab-3 related transcription factor 1 1.138
PAX9 paired box 9 1.136
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B 1.136
NGF nerve growth factor (beta polypeptide) 1.135
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog 1.134
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta 1.134
SWT1 SWT1 RNA endoribonuclease homolog (S. cerevisiae) 1.132
EN2 engrailed homeobox 2 1.124
NEUROD4 neuronal differentiation 4 1.121
PROX1 prospero homeobox 1 1.119
ZFPM2 zinc finger protein, FOG family member 2 1.114
NKX6-1 NK6 homeobox 1 1.114
COMMD9 COMM domain containing 9 1.113
NR2F1 nuclear receptor subfamily 2, group F, member 1 1.111
WNT9B wingless-type MMTV integration site family, member 9B 1.108
NOTCH1 notch 1 1.107
PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma 1.106
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 1.102
CDKL5 cyclin-dependent kinase-like 5 1.102
USH1C Usher syndrome 1C (autosomal recessive, severe) 1.098
MPPED1 metallophosphoesterase domain containing 1 1.096
PRPH2 peripherin 2 (retinal degeneration, slow) 1.095
BTBD3 BTB (POZ) domain containing 3 1.093
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 1.091
CA8 carbonic anhydrase VIII 1.091
DCN decorin 1.088
DNASE2B deoxyribonuclease II beta 1.088
ACTB actin, beta 1.088
FOXN4 forkhead box N4 1.087
ALDH1A1 aldehyde dehydrogenase 1 family, member A1 1.085
PXDN peroxidasin 1.082
GLI3 GLI family zinc finger 3 1.081
MYC v-myc avian myelocytomatosis viral oncogene homolog 1.079
GRAMD2B GRAM domain containing 2B 1.078
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 1.075
NTF4 neurotrophin 4 1.073
ISL1 ISL LIM homeobox 1 1.07
SALL1 spalt-like transcription factor 1 1.069
POU3F4 POU class 3 homeobox 4 1.068
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1.068
FZD4 frizzled class receptor 4 1.064
POMC proopiomelanocortin 1.059
LMO2 LIM domain only 2 (rhombotin-like 1) 1.056
TMCO1 transmembrane and coiled-coil domains 1 1.055
KRT33A keratin 33A, type I 1.052
GPHA2 glycoprotein hormone alpha 2 1.051
FGF10 fibroblast growth factor 10 1.047
SH2B1 SH2B adaptor protein 1 1.046
AGK acylglycerol kinase 1.043
ELOVL7 ELOVL fatty acid elongase 7 1.041
ZPR1 ZPR1 zinc finger 1.04
CDH2 cadherin 2, type 1, N-cadherin (neuronal) 1.038
CRABP2 cellular retinoic acid binding protein 2 1.033
TBX5 T-box 5 1.033
FN1 fibronectin 1 1.03
ANGPT1 angiopoietin 1 1.029
FOXP2 forkhead box P2 1.029
CRYL1 crystallin, lambda 1 1.029
DMRT2 doublesex and mab-3 related transcription factor 2 1.027
EYA2 EYA transcriptional coactivator and phosphatase 2 1.024
TAFA1 TAFA chemokine like family member 1 1.024
WNT7B wingless-type MMTV integration site family, member 7B 1.023
FGF9 fibroblast growth factor 9 1.022
CREB1 cAMP responsive element binding protein 1 1.022
RBM24 RNA binding motif protein 24 1.021
DSG1 desmoglein 1 1.02
HPS6 Hermansky-Pudlak syndrome 6 1.02
LOXL1 lysyl oxidase-like 1 1.02
PCSK1 proprotein convertase subtilisin/kexin type 1 1.019
TRPM3 transient receptor potential cation channel, subfamily M, member 3 1.018
CRYGB crystallin, gamma B 1.017
ST18 suppression of tumorigenicity 18, zinc finger 1.015
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 1.012
ARHGAP6 Rho GTPase activating protein 6 1.011
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime 1.011
GMDS GDP-mannose 4,6-dehydratase 1.01
FGF16 fibroblast growth factor 16 1.006
DHH desert hedgehog 1.003
AGBL5 ATP/GTP binding protein-like 5 1.003
PCMTD1 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 1.002
CEBPD CCAAT/enhancer binding protein (C/EBP), delta 1.0