microphthalmia Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An eye disease where one or both eyeballs are abnormally small. (Human Disease Ontology, DOID_10629)
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Genes

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

Symbol Name Standardized Value
MITF microphthalmia-associated transcription factor 2.68793
VSX2 visual system homeobox 2 2.27898
HCCS holocytochrome c synthase 2.03786
TYR tyrosinase 1.95488
MFRP membrane frizzled-related protein 1.9328
OTX2 orthodenticle homeobox 2 1.90009
PAX6 paired box 6 1.89129
FOXE3 forkhead box E3 1.88666
MLANA melan-A 1.8409
STRA6 stimulated by retinoic acid 6 1.79616
SOX2 SRY (sex determining region Y)-box 2 1.70133
GDF6 growth differentiation factor 6 1.61799
TYRP1 tyrosinase-related protein 1 1.52468
BCOR BCL6 corepressor 1.50579
SMOC1 SPARC related modular calcium binding 1 1.49833
TFEB transcription factor EB 1.48867
TFEC transcription factor EC 1.48516
ALDH1A3 aldehyde dehydrogenase 1 family, member A3 1.4733
PIAS3 protein inhibitor of activated STAT, 3 1.41402
TFE3 transcription factor binding to IGHM enhancer 3 1.39957
PITX3 paired-like homeodomain 3 1.39564
CRYAA crystallin, alpha A 1.37076
RAX retina and anterior neural fold homeobox 1.36727
ARHGAP6 Rho GTPase activating protein 6 1.33152
GOLPH3 golgi phosphoprotein 3 (coat-protein) 1.33152
DCT dopachrome tautomerase 1.29221
SNX3 sorting nexin 3 1.2861
SIX6 SIX homeobox 6 1.28217
SIX3 SIX homeobox 3 1.27606
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic) 1.24298
BMP4 bone morphogenetic protein 4 1.18712
MAB21L2 mab-21-like 2 (C. elegans) 1.17035
DMBX1 diencephalon/mesencephalon homeobox 1 1.16992
MNX1 motor neuron and pancreas homeobox 1 1.13205
CRYBA4 crystallin, beta A4 1.12319
PMEL premelanosome protein 1.12193
GJA8 gap junction protein, alpha 8, 50kDa 1.11856
SOX10 SRY (sex determining region Y)-box 10 1.11687
VAX1 ventral anterior homeobox 1 1.11561
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 1.11099
SHH sonic hedgehog 1.10384
TMEM114 transmembrane protein 114 1.06522
GJA1 gap junction protein, alpha 1, 43kDa 1.05597
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies) 1.04377
COX7B cytochrome c oxidase subunit VIIb 1.02903
VAX2 ventral anterior homeobox 2 1.02608
KARS lysyl-tRNA synthetase 1.01343
PAX3 paired box 3 1.01301
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 1.00668
GDF3 growth differentiation factor 3 0.998658
ATOH7 atonal homolog 7 (Drosophila) 0.968761
TMX3 thioredoxin-related transmembrane protein 3 0.962053
PTER phosphotriesterase related 0.955779
CCDC102B coiled-coil domain containing 102B 0.952438
ARL6IP1 ADP-ribosylation factor-like 6 interacting protein 1 0.941196
ALX1 ALX homeobox 1 0.93497
NR2E1 nuclear receptor subfamily 2, group E, member 1 0.918024
FOXI2 forkhead box I2 0.893769
ZIC2 Zic family member 2 0.888848
PAX2 paired box 2 0.881882
RAB17 RAB17, member RAS oncogene family 0.879424
PITX2 paired-like homeodomain 2 0.871643
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 0.869187
STAU2 staufen double-stranded RNA binding protein 2 0.863865
PAPOLB poly(A) polymerase beta (testis specific) 0.862228
PGAP1 post-GPI attachment to proteins 1 0.839705
CTSK cathepsin K 0.839705
FIGNL1 fidgetin-like 1 0.829869
OR1E1 olfactory receptor, family 1, subfamily E, member 1 0.824128
ALX4 ALX homeobox 4 0.821257
ISOC1 isochorismatase domain containing 1 0.816334
C12ORF57 chromosome 12 open reading frame 57 0.808949
SLC7A4 solute carrier family 7, member 4 0.805257
FREM1 FRAS1 related extracellular matrix 1 0.800333
FREM2 FRAS1 related extracellular matrix protein 2 0.794591
TMEM98 transmembrane protein 98 0.792541
HINT1 histidine triad nucleotide binding protein 1 0.789672
FNBP4 formin binding protein 4 0.781069
DSEL dermatan sulfate epimerase-like 0.781069
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C) 0.777795
MEIS2 Meis homeobox 2 0.772479
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 0.763086
KITLG KIT ligand 0.761047
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic) 0.759416
SALL1 spalt-like transcription factor 1 0.753306
CLCN7 chloride channel, voltage-sensitive 7 0.751271
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group) 0.733001
EXOC6 exocyst complex component 6 0.725716
SNX6 sorting nexin 6 0.72127
EYA3 EYA transcriptional coactivator and phosphatase 3 0.720058
OSCAR osteoclast associated, immunoglobulin-like receptor 0.717232
SPI1 Spi-1 proto-oncogene 0.708364
OTX1 orthodenticle homeobox 1 0.705144
ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide 0.69751
SRY sex determining region Y 0.696707
EAPP E2F-associated phosphoprotein 0.695504
TPSAB1 tryptase alpha/beta 1 0.691094
CAPN15 calpain 15 0.687091
TFAP2E transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon) 0.6791
CRYGS crystallin, gamma S 0.67551
FRAS1 Fraser extracellular matrix complex subunit 1 0.668345
BFSP2 beaded filament structural protein 2, phakinin 0.664769
CHRD chordin 0.6608
CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide 1 0.656441
AMELX amelogenin, X-linked 0.649718
TBX5 T-box 5 0.644192
OSTM1 osteopetrosis associated transmembrane protein 1 0.639857
GINS4 GINS complex subunit 4 (Sld5 homolog) 0.628457
PCGF1 polycomb group ring finger 1 0.625319
NDST2 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 0.622183
RALGAPA1 Ral GTPase activating protein, alpha subunit 1 (catalytic) 0.619834
ACPP acid phosphatase, prostate 0.615138
KLF13 Kruppel-like factor 13 0.614747
RAI2 retinoic acid induced 2 0.612401
YIPF4 Yip1 domain family, member 4 0.60225
CSF1R colony stimulating factor 1 receptor 0.60069
TSPAN16 tetraspanin 16 0.59874
NANOS3 nanos homolog 3 (Drosophila) 0.597181
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit 0.595233
CAPN7 calpain 7 0.590558
ERCC6 excision repair cross-complementation group 6 0.590169
HMX1 H6 family homeobox 1 0.589779
TBX2 T-box 2 0.589001
PTCH2 patched 2 0.587444
FOXC1 forkhead box C1 0.583552
HS6ST2 heparan sulfate 6-O-sulfotransferase 2 0.578106
CRB1 crumbs family member 1, photoreceptor morphogenesis associated 0.570329
CADM1 cell adhesion molecule 1 0.568386
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 0.564112
WIPI1 WD repeat domain, phosphoinositide interacting 1 0.563335
RAB32 RAB32, member RAS oncogene family 0.561392
GJA3 gap junction protein, alpha 3, 46kDa 0.547807
CDH19 cadherin 19, type 2 0.547032
BCORL1 BCL6 corepressor-like 1 0.544318
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog 0.544318
EVI2B ecotropic viral integration site 2B 0.541992
TBCE tubulin folding cofactor E 0.533475
CREB1 cAMP responsive element binding protein 1 0.526904
ALX3 ALX homeobox 3 0.52536
PORCN porcupine homolog (Drosophila) 0.524974
MAS1 MAS1 proto-oncogene, G protein-coupled receptor 0.524588
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 0.519961
ACP5 acid phosphatase 5, tartrate resistant 0.518805
PAICS phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase 0.518805
MIP major intrinsic protein of lens fiber 0.516879
SOX11 SRY (sex determining region Y)-box 11 0.499614
TGIF1 TGFB-induced factor homeobox 1 0.498849
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 0.497321
FGF8 fibroblast growth factor 8 (androgen-induced) 0.487027
MSX1 msh homeobox 1 0.485885
GPNMB glycoprotein (transmembrane) nmb 0.480566
WFDC1 WAP four-disulfide core domain 1 0.477909
BMP7 bone morphogenetic protein 7 0.472225
HS6ST1 heparan sulfate 6-O-sulfotransferase 1 0.471468
OPRK1 opioid receptor, kappa 1 0.470711
RHO rhodopsin 0.470332
SNAI2 snail family zinc finger 2 0.468063
FOXD3 forkhead box D3 0.46466
TMEM216 transmembrane protein 216 0.462016
KDM2B lysine (K)-specific demethylase 2B 0.461261
EYA2 EYA transcriptional coactivator and phosphatase 2 0.460129
STAU1 staufen double-stranded RNA binding protein 1 0.458996
CHRNG cholinergic receptor, nicotinic, gamma (muscle) 0.458619
BEST1 bestrophin 1 0.454847
NPAS3 neuronal PAS domain protein 3 0.450701
PRRX1 paired related homeobox 1 0.445805
B3GALTL beta 1,3-galactosyltransferase-like 0.443547
RALBP1 ralA binding protein 1 0.43941
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 0.436402
EMX1 empty spiracles homeobox 1 0.436026
LGR4 leucine-rich repeat containing G protein-coupled receptor 4 0.429266
RNF2 ring finger protein 2 0.42364
FOSL2 FOS-like antigen 2 0.42214
USF2 upstream transcription factor 2, c-fos interacting 0.419892
SALL2 spalt-like transcription factor 2 0.419892
PRCC papillary renal cell carcinoma (translocation-associated) 0.415773
FOXL2 forkhead box L2 0.406798
FKTN fukutin 0.398589
RP2 retinitis pigmentosa 2 (X-linked recessive) 0.397843
EBP emopamil binding protein (sterol isomerase) 0.396353
HMGB3 high mobility group box 3 0.393374
FOXC2 forkhead box C2 0.385936
LHX2 LIM homeobox 2 0.377773
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha 0.369628
DLX1 distal-less homeobox 1 0.369258
DICER1 dicer 1, ribonuclease type III 0.369258
FOS FBJ murine osteosarcoma viral oncogene homolog 0.368888
CALD1 caldesmon 1 0.368518
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) 0.366671
PROX1 prospero homeobox 1 0.363716
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor 0.363347
EIF4B eukaryotic translation initiation factor 4B 0.357077
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta 0.352291
BEST2 bestrophin 2 0.350084
FZD8 frizzled class receptor 8 0.348614
HMX2 H6 family homeobox 2 0.346042
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 0.345308
RAB38 RAB38, member RAS oncogene family 0.341639
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2) 0.341272
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 0.337608
MSX2 msh homeobox 2 0.333949
AKAP17A A kinase (PRKA) anchor protein 17A 0.332121
CRYBA1 crystallin, beta A1 0.332121
CENPC centromere protein C 0.331391
FGF1 fibroblast growth factor 1 (acidic) 0.331025
PCDH19 protocadherin 19 0.329565
NR2F1 nuclear receptor subfamily 2, group F, member 1 0.321545
ID2 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein 0.315729
CDON cell adhesion associated, oncogene regulated 0.315366
MCM6 minichromosome maintenance complex component 6 0.313552
LIM2 lens intrinsic membrane protein 2, 19kDa 0.312464
SYP synaptophysin 0.309204
ENO2 enolase 2 (gamma, neuronal) 0.309204
TENM1 teneurin transmembrane protein 1 0.304142
VRK1 vaccinia related kinase 1 0.300533
MELK maternal embryonic leucine zipper kinase 0.298731
KERA keratocan 0.297291
HIRA histone cell cycle regulator 0.295492
PQBP1 polyglutamine binding protein 1 0.285802
DVL3 dishevelled segment polarity protein 3 0.284728
ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 0.284013
INPP5A inositol polyphosphate-5-phosphatase, 40kDa 0.28151
GLB1 galactosidase, beta 1 0.280796
POU4F2 POU class 4 homeobox 2 0.276514
EMX2 empty spiracles homeobox 2 0.275801
CRX cone-rod homeobox 0.272597
CHRND cholinergic receptor, nicotinic, delta (muscle) 0.27153
ZEB2 zinc finger E-box binding homeobox 2 0.266203
HOXA13 homeobox A13 0.265849
HRAS Harvey rat sarcoma viral oncogene homolog 0.26266
RRAS related RAS viral (r-ras) oncogene homolog 0.257711
NOTCH1 notch 1 0.257711
NNAT neuronatin 0.257711
POU3F2 POU class 3 homeobox 2 0.256299
KRT12 keratin 12, type I 0.255946
CRYGC crystallin, gamma C 0.250663
CD68 CD68 molecule 0.247852
ZFYVE9 zinc finger, FYVE domain containing 9 0.246448
WNT7B wingless-type MMTV integration site family, member 7B 0.243645
RARB retinoic acid receptor, beta 0.242595
ARL6 ADP-ribosylation factor-like 6 0.240847
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.23945
GAS1 growth arrest-specific 1 0.239101
CRYBB1 crystallin, beta B1 0.238403
ARHGAP18 Rho GTPase activating protein 18 0.237706
HSF1 heat shock transcription factor 1 0.23492
ADCY10 adenylate cyclase 10 (soluble) 0.232836
GJD2 gap junction protein, delta 2, 36kDa 0.230409
NOTCH2 notch 2 0.22937
NOTCH2NL notch 2 N-terminal like 0.226952
E2F4 E2F transcription factor 4, p107/p130-binding 0.225917
PVRL2 poliovirus receptor-related 2 (herpesvirus entry mediator B) 0.223165
ZFX zinc finger protein, X-linked 0.218715
NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive 0.217352
AXL AXL receptor tyrosine kinase 0.217012
MBTPS2 membrane-bound transcription factor peptidase, site 2 0.215314
LMX1A LIM homeobox transcription factor 1, alpha 0.215314
ERCC5 excision repair cross-complementation group 5 0.213283
LGALS4 lectin, galactoside-binding, soluble, 4 0.20229
RERE arginine-glutamic acid dipeptide (RE) repeats 0.201962
STARD13 StAR-related lipid transfer (START) domain containing 13 0.200982
CLCA4 chloride channel accessory 4 0.200982
CDH2 cadherin 2, type 1, N-cadherin (neuronal) 0.198064
RPE65 retinal pigment epithelium-specific protein 65kDa 0.198064
DYNC1I2 dynein, cytoplasmic 1, intermediate chain 2 0.19742
STOM stomatin 0.195501
CD34 CD34 molecule 0.193915
NOG noggin 0.188938
NGDN neuroguidin, EIF4E binding protein 0.188326
DLG3 discs, large homolog 3 (Drosophila) 0.188022
EWSR1 EWS RNA-binding protein 1 0.187113
HSH2D hematopoietic SH2 domain containing 0.187113
ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1 0.186811
MAPK14 mitogen-activated protein kinase 14 0.184424
EPHA3 EPH receptor A3 0.18151
SOX1 SRY (sex determining region Y)-box 1 0.180367
RD3 retinal degeneration 3 0.180084
EN2 engrailed homeobox 2 0.179802
UBR1 ubiquitin protein ligase E3 component n-recognin 1 0.178126
CDH1 cadherin 1, type 1, E-cadherin (epithelial) 0.177576
NR2F2 nuclear receptor subfamily 2, group F, member 2 0.177301
CLCN4 chloride channel, voltage-sensitive 4 0.174617
DLX5 distal-less homeobox 5 0.174354
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 0.171286
HESX1 HESX homeobox 1 0.170299
DGUOK deoxyguanosine kinase 0.170299
POMC proopiomelanocortin 0.170054
SIX4 SIX homeobox 4 0.169571
CLCA2 chloride channel accessory 2 0.16933
FRS2 fibroblast growth factor receptor substrate 2 0.169091
HIST1H2AD histone cluster 1, H2ad 0.167915
HIST1H2AJ histone cluster 1, H2aj 0.167915
H2AFV H2A histone family, member V 0.166768
H2AFB2 H2A histone family, member B2 0.166319
H2AFY2 H2A histone family, member Y2 0.165655
H2AFB1 H2A histone family, member B1 0.165655
HIST1H2AH histone cluster 1, H2ah 0.165001
H2AFJ H2A histone family, member J 0.165001
CRYBB2 crystallin, beta B2 0.163523
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit 0.163317
HIST1H2AM histone cluster 1, H2am 0.163111
CYS1 cystin 1 0.161716
XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble 0.161716
ARHGAP1 Rho GTPase activating protein 1 0.160387
HIST1H2AB histone cluster 1, H2ab 0.160203
HIST1H2AE histone cluster 1, H2ae 0.160203
EYA1 EYA transcriptional coactivator and phosphatase 1 0.157765