coloboma Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. (Human Disease Ontology, DOID_12270)
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Genes

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

Symbol Name Standardized Value
CHD7 chromodomain helicase DNA binding protein 7 2.73504
PAX2 paired box 2 2.07991
PAX6 paired box 6 1.75958
VAX2 ventral anterior homeobox 2 1.71499
VAX1 ventral anterior homeobox 1 1.70816
GDF6 growth differentiation factor 6 1.51721
SNAP23 synaptosomal-associated protein, 23kDa 1.46583
ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase 1.39695
VSX2 visual system homeobox 2 1.38734
ATP6V1E1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 1.3433
DHX38 DEAH (Asp-Glu-Ala-His) box polypeptide 38 1.30357
ZNF462 zinc finger protein 462 1.29658
OTX2 orthodenticle homeobox 2 1.26516
GDF3 growth differentiation factor 3 1.26298
SHH sonic hedgehog 1.22518
SOX2 SRY (sex determining region Y)-box 2 1.19704
STRA6 stimulated by retinoic acid 6 1.17507
TCOF1 Treacher Collins-Franceschetti syndrome 1 1.1605
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group) 1.15922
NRBP2 nuclear receptor binding protein 2 1.15794
FOXI2 forkhead box I2 1.15453
SRD5A3 steroid 5 alpha-reductase 3 1.14602
SIX3 SIX homeobox 3 1.13882
PHACTR4 phosphatase and actin regulator 4 1.13205
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 1.12909
KDM2B lysine (K)-specific demethylase 2B 1.11814
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa 1.11814
HS6ST1 heparan sulfate 6-O-sulfotransferase 1 1.11015
SALL2 spalt-like transcription factor 2 1.07194
C12ORF57 chromosome 12 open reading frame 57 1.06732
CECR2 cat eye syndrome chromosome region, candidate 2 1.06312
TBX5 T-box 5 1.04966
CC2D2A coiled-coil and C2 domain containing 2A 1.03367
CEP290 centrosomal protein 290kDa 1.01554
UBXN11 UBX domain protein 11 1.01132
ATOH7 atonal homolog 7 (Drosophila) 0.994861
BCOR BCL6 corepressor 0.988957
ZIC2 Zic family member 2 0.982215
SNX6 sorting nexin 6 0.976323
CRYBA4 crystallin, beta A4 0.962891
ZIC5 Zic family member 5 0.957868
PTER phosphotriesterase related 0.949519
EAPP E2F-associated phosphoprotein 0.949519
TMEM67 transmembrane protein 67 0.943274
FOXE3 forkhead box E3 0.941611
CHD1L chromodomain helicase DNA binding protein 1-like 0.93
CHD2 chromodomain helicase DNA binding protein 2 0.922149
FRAS1 Fraser extracellular matrix complex subunit 1 0.921323
PITX2 paired-like homeodomain 2 0.906086
ALDH1A3 aldehyde dehydrogenase 1 family, member A3 0.905675
BMP4 bone morphogenetic protein 4 0.880243
NDST2 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 0.873281
RALGAPA1 Ral GTPase activating protein, alpha subunit 1 (catalytic) 0.870825
SNAP25 synaptosomal-associated protein, 25kDa 0.870415
PQBP1 polyglutamine binding protein 1 0.863865
LAMB1 laminin, beta 1 0.859362
FLRT3 fibronectin leucine rich transmembrane protein 3 0.85404
PTCH2 patched 2 0.837246
NPHP1 nephronophthisis 1 (juvenile) 0.836017
SIX6 SIX homeobox 6 0.830689
HS6ST2 heparan sulfate 6-O-sulfotransferase 2 0.827409
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog 0.819206
IL17RD interleukin 17 receptor D 0.81059
RPGRIP1L RPGRIP1-like 0.792951
UBR1 ubiquitin protein ligase E3 component n-recognin 1 0.788033
ADAMTSL4 ADAMTS-like 4 0.783116
PUF60 poly-U binding splicing factor 60KDa 0.76431
CRYAA crystallin, alpha A 0.754934
SMOC1 SPARC related modular calcium binding 1 0.743547
GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 0.741111
HESX1 HESX homeobox 1 0.739488
RYBP RING1 and YY1 binding protein 0.734622
ASXL2 additional sex combs like transcriptional regulator 2 0.726929
SOX11 SRY (sex determining region Y)-box 11 0.726524
BMP7 bone morphogenetic protein 7 0.714811
ORAOV1 oral cancer overexpressed 1 0.706351
TMEM216 transmembrane protein 216 0.70434
EYA2 EYA transcriptional coactivator and phosphatase 2 0.70233
PAX9 paired box 9 0.70233
NPAS3 neuronal PAS domain protein 3 0.692296
ARL13B ADP-ribosylation factor-like 13B 0.689893
PPFIA1 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 0.685491
SCRIB scribbled planar cell polarity protein 0.670333
YAP1 Yes-associated protein 1 0.66596
YARS tyrosyl-tRNA synthetase 0.663975
FREM2 FRAS1 related extracellular matrix protein 2 0.659215
ABCG4 ATP-binding cassette, sub-family G (WHITE), member 4 0.646165
HOXA2 homeobox A2 0.639857
ARL3 ADP-ribosylation factor-like 3 0.63907
MEIS2 Meis homeobox 2 0.637495
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta 0.622967
ITSN1 intersectin 1 (SH3 domain protein) 0.620617
ALDH7A1 aldehyde dehydrogenase 7 family, member A1 0.617094
LCA5 Leber congenital amaurosis 5 0.60264
LRP6 low density lipoprotein receptor-related protein 6 0.60069
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor 0.592506
TBX22 T-box 22 0.590169
FZD8 frizzled class receptor 8 0.583941
BHLHE22 basic helix-loop-helix family, member e22 0.580439
FGF17 fibroblast growth factor 17 0.578106
MNX1 motor neuron and pancreas homeobox 1 0.575383
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 0.572662
FOXC1 forkhead box C1 0.557897
CDON cell adhesion associated, oncogene regulated 0.548583
SPRY4 sprouty homolog 4 (Drosophila) 0.540055
MSX2 msh homeobox 2 0.534248
MITF microphthalmia-associated transcription factor 0.528449
FBN2 fibrillin 2 0.513033
FGF8 fibroblast growth factor 8 (androgen-induced) 0.510728
TENM1 teneurin transmembrane protein 1 0.502292
TAC3 tachykinin 3 0.500761
CRYGC crystallin, gamma C 0.479427
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) 0.472604
SLC25A18 solute carrier family 25 (glutamate carrier), member 18 0.472604
MAPK9 mitogen-activated protein kinase 9 0.467306
SPTAN1 spectrin, alpha, non-erythrocytic 1 0.467306
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 0.463527
FSHB follicle stimulating hormone, beta polypeptide 0.463149
AGTR2 angiotensin II receptor, type 2 0.448441
IGBP1 immunoglobulin (CD79A) binding protein 1 0.447311
RD3 retinal degeneration 3 0.432646
CDH2 cadherin 2, type 1, N-cadherin (neuronal) 0.42139
TULP1 tubby like protein 1 0.406798
TBX1 T-box 1 0.400826
TACR3 tachykinin receptor 3 0.398589
SALL1 spalt-like transcription factor 1 0.393746
SDC2 syndecan 2 0.391885
CNGB3 cyclic nucleotide gated channel beta 3 0.386679
SIX4 SIX homeobox 4 0.384079
MFRP membrane frizzled-related protein 0.383708
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 0.383337
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3 0.382223
TRPS1 trichorhinophalangeal syndrome I 0.38111
FGFR1 fibroblast growth factor receptor 1 0.379256
LHB luteinizing hormone beta polypeptide 0.37592
DLG3 discs, large homolog 3 (Drosophila) 0.37592
SHANK3 SH3 and multiple ankyrin repeat domains 3 0.371477
CYS1 cystin 1 0.371107
AHI1 Abelson helper integration site 1 0.36704
CNTLN centlein, centrosomal protein 0.366671
PROKR2 prokineticin receptor 2 0.364085
SIX2 SIX homeobox 2 0.362609
GJA8 gap junction protein, alpha 8, 50kDa 0.354131
CNGA3 cyclic nucleotide gated channel alpha 3 0.353027
AIPL1 aryl hydrocarbon receptor interacting protein-like 1 0.350084
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 0.341639
FGF3 fibroblast growth factor 3 0.336144
NR2E3 nuclear receptor subfamily 2, group E, member 3 0.334315
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) 0.324094
SIL1 SIL1 nucleotide exchange factor 0.321909
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 0.321545
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon 0.320817
FBN1 fibrillin 1 0.313189
PAX3 paired box 3 0.31029
COL4A4 collagen, type IV, alpha 4 0.302698
DUSP6 dual specificity phosphatase 6 0.301976
FZD1 frizzled class receptor 1 0.298731
DHODH dihydroorotate dehydrogenase (quinone) 0.292257
VAPA VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa 0.286519
ADAM9 ADAM metallopeptidase domain 9 0.283655
MED12 mediator complex subunit 12 0.282582
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.273664
ASPH aspartate beta-hydroxylase 0.271174
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 0.269398
PROK2 prokineticin 2 0.269398
NRL neural retina leucine zipper 0.260891
GUCY2D guanylate cyclase 2D, membrane (retina-specific) 0.256299
SIRPA signal-regulatory protein alpha 0.251015
EPHB2 EPH receptor B2 0.246448
CHM choroideremia (Rab escort protein 1) 0.245396
SIX1 SIX homeobox 1 0.238403
HMX1 H6 family homeobox 1 0.234225
EFNB2 ephrin-B2 0.227642
KISS1 KiSS-1 metastasis-suppressor 0.220424
SALL4 spalt-like transcription factor 4 0.208245
CRB1 crumbs family member 1, photoreceptor morphogenesis associated 0.207245
HNF4A hepatocyte nuclear factor 4, alpha 0.196139
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 0.195183
WWOX WW domain containing oxidoreductase 0.189551
LMO2 LIM domain only 2 (rhombotin-like 1) 0.187719
CTTN cortactin 0.187415
GNRHR gonadotropin-releasing hormone receptor 0.185612
FGFR2 fibroblast growth factor receptor 2 0.171535
ISL1 ISL LIM homeobox 1 0.171036
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 0.16933
MSX1 msh homeobox 1 0.168854
FGFR4 fibroblast growth factor receptor 4 0.166319
CRX cone-rod homeobox 0.165001
GLI3 GLI family zinc finger 3 0.164359
ZEB2 zinc finger E-box binding homeobox 2 0.161331
WNT1 wingless-type MMTV integration site family, member 1 0.160574
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) 0.158434