Buphthalmos 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. [LS]. (Human Disease Ontology, DOID_11211)
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Genes

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

Symbol Name Standardized Value
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 2.885
LTBP2 latent transforming growth factor beta binding protein 2 2.836
MYOC myocilin, trabecular meshwork inducible glucocorticoid response 2.655
FOXC1 forkhead box C1 2.587
PITX2 paired-like homeodomain 2 2.392
LTBP3 latent transforming growth factor beta binding protein 3 2.384
WDR36 WD repeat domain 36 2.212
MAB21L1 mab-21-like 1 (C. elegans) 2.193
PAX6 paired box 6 2.159
POMT1 protein-O-mannosyltransferase 1 2.144
FOXE3 forkhead box E3 2.116
POMT2 protein-O-mannosyltransferase 2 2.068
CPAMD8 C3 and PZP-like, alpha-2-macroglobulin domain containing 8 2.023
OCRL oculocerebrorenal syndrome of Lowe 1.956
MPDU1 mannose-P-dolichol utilization defect 1 1.924
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1) 1.9
B3GLCT beta 3-glucosyltransferase 1.877
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 1.873
PITX3 paired-like homeodomain 3 1.824
FKTN fukutin 1.822
MAB21L2 mab-21-like 2 (C. elegans) 1.792
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3 1.738
NF1 neurofibromin 1 1.725
OPTN optineurin 1.699
TEK TEK tyrosine kinase, endothelial 1.68
SRD5A3 steroid 5 alpha-reductase 3 1.662
COL4A1 collagen, type IV, alpha 1 1.657
FKRP fukutin related protein 1.623
ANGPT1 angiopoietin 1 1.62
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit 1.613
RXYLT1 ribitol xylosyltransferase 1 1.608
DOLK dolichol kinase 1.579
NTF4 neurotrophin 4 1.578
SIX6 SIX homeobox 6 1.574
PRSS56 protease, serine, 56 1.57
ASB10 ankyrin repeat and SOCS box containing 10 1.543
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit 1.533
ST18 suppression of tumorigenicity 18, zinc finger 1.528
LRP2 low density lipoprotein receptor-related protein 2 1.514
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.503
MAB21L3 mab-21-like 3 (C. elegans) 1.489
ANGPT4 angiopoietin 4 1.484
PGAP2 post-GPI attachment to proteins 2 1.478
LMX1B LIM homeobox transcription factor 1, beta 1.47
TMCO1 transmembrane and coiled-coil domains 1 1.456
SLC4A11 solute carrier family 4, sodium borate transporter, member 11 1.442
ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 1.409
TLCD5 TLC domain containing 5 1.407
GNAQ guanine nucleotide binding protein (G protein), q polypeptide 1.39
FBN1 fibrillin 1 1.386
SMAD9 SMAD family member 9 1.345
CKB creatine kinase, brain 1.327
CHRDL1 chordin-like 1 1.316
SH3PXD2B SH3 and PX domains 2B 1.31
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) 1.308
CKMT1B creatine kinase, mitochondrial 1B 1.307
CKM creatine kinase, muscle 1.303
FOXF2 forkhead box F2 1.297
SVEP1 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1.293
CRYBB2 crystallin, beta B2 1.255
FOXD3 forkhead box D3 1.252
COL8A2 collagen, type VIII, alpha 2 1.252
ANGPT2 angiopoietin 2 1.25
CA8 carbonic anhydrase VIII 1.244
VSX2 visual system homeobox 2 1.238
FOXC2 forkhead box C2 1.231
CLDN34 claudin 34 1.23
EGFLAM EGF-like, fibronectin type III and laminin G domains 1.214
COL11A1 collagen, type XI, alpha 1 1.213
ITPKA inositol-trisphosphate 3-kinase A 1.207
CRYGS crystallin, gamma S 1.203
GPNMB glycoprotein (transmembrane) nmb 1.199
LOXL1 lysyl oxidase-like 1 1.194
GMDS GDP-mannose 4,6-dehydratase 1.18
TBC1D17 TBC1 domain family, member 17 1.172
TRIM44 tripartite motif containing 44 1.145
POU4F2 POU class 4 homeobox 2 1.144
RBM41 RNA binding motif protein 41 1.143
SIX3 SIX homeobox 3 1.139
ADAMTSL4 ADAMTS-like 4 1.129
DCDC1 doublecortin domain containing 1 1.127
TBK1 TANK-binding kinase 1 1.124
VSX1 visual system homeobox 1 1.123
CA5B carbonic anhydrase VB, mitochondrial 1.116
TMEM98 transmembrane protein 98 1.113
HCCS holocytochrome c synthase 1.113
ZNF469 zinc finger protein 469 1.108
LARP7 La ribonucleoprotein domain family, member 7 1.105
ATOH7 atonal homolog 7 (Drosophila) 1.103
ARHGAP40 Rho GTPase activating protein 40 1.098
CA13 carbonic anhydrase XIII 1.095
PCMTD1 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 1.091
FAM9A family with sequence similarity 9, member A 1.088
CDK13 cyclin-dependent kinase 13 1.088
ZNF644 zinc finger protein 644 1.083
PTPRB protein tyrosine phosphatase, receptor type, B 1.083
COG7 component of oligomeric golgi complex 7 1.082
TRIM8 tripartite motif containing 8 1.078
PGAP3 post-GPI attachment to proteins 3 1.075
CA14 carbonic anhydrase XIV 1.073
LAMC3 laminin, gamma 3 1.071
ARMCX4 armadillo repeat containing, X-linked 4 1.071
ITGA9 integrin, alpha 9 1.069
GPATCH3 G patch domain containing 3 1.068
OTP orthopedia homeobox 1.066
MCPH1 microcephalin 1 1.065
EMC9 ER membrane protein complex subunit 9 1.065
MOSMO modulator of smoothened 1.063
CAGE1 cancer antigen 1 1.063
TMTC2 transmembrane and tetratricopeptide repeat containing 2 1.062
FBLN5 fibulin 5 1.06
MAB21L4 mab-21 like 4 1.058
ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase 1.046
WT1 Wilms tumor 1 1.041
CA5A carbonic anhydrase VA, mitochondrial 1.033
RBM46 RNA binding motif protein 46 1.031
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 1.028
PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 1.023
OTX2 orthodenticle homeobox 2 1.02
CHM choroideremia (Rab escort protein 1) 1.017
CA7 carbonic anhydrase VII 1.012
BMP4 bone morphogenetic protein 4 1.009
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) 1.006
EXOC2 exocyst complex component 2 1.006
MFAP2 microfibrillar-associated protein 2 1.004