Blepharophimosis Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
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Genes

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

Symbol Name Standardized Value
FOXL2 forkhead box L2 3.522
KAT6B K(lysine) acetyltransferase 6B 2.798
UBE3B ubiquitin protein ligase E3B 2.616
BRPF1 bromodomain and PHD finger containing, 1 2.275
MED12 mediator complex subunit 12 2.254
GPR27 G protein-coupled receptor 27 2.218
SCARF2 scavenger receptor class F, member 2 2.213
NOBOX NOBOX oogenesis homeobox 2.205
FIGLA folliculogenesis specific basic helix-loop-helix 2.153
COLEC11 collectin sub-family member 11 2.105
GDF9 growth differentiation factor 9 2.067
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 2.04
EIF4E3 eukaryotic translation initiation factor 4E family member 3 2.024
BMP15 bone morphogenetic protein 15 1.979
COLEC10 collectin sub-family member 10 (C-type lectin) 1.922
SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 1.905
SOX3 SRY (sex determining region Y)-box 3 1.837
LHX8 LIM homeobox 8 1.804
NR5A1 nuclear receptor subfamily 5, group A, member 1 1.8
MCM9 minichromosome maintenance complex component 9 1.798
TLK2 tousled-like kinase 2 1.79
PABPN1 poly(A) binding protein, nuclear 1 1.763
ZIC2 Zic family member 2 1.759
MAB21L1 mab-21-like 1 (C. elegans) 1.746
MCM8 minichromosome maintenance complex component 8 1.734
KAT6A K(lysine) acetyltransferase 6A 1.73
CCDC169-SOHLH2 CCDC169-SOHLH2 readthrough 1.71
ADNP activity-dependent neuroprotector homeobox 1.706
SOHLH2 spermatogenesis and oogenesis specific basic helix-loop-helix 2 1.699
HOXA13 homeobox A13 1.695
WNT4 wingless-type MMTV integration site family, member 4 1.694
TRIQK triple QxxK/R motif containing 1.69
FSHR follicle stimulating hormone receptor 1.686
HFM1 HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 1.681
MEAF6 MYST/Esa1-associated factor 6 1.657
FOXP1 forkhead box P1 1.648
FMR1 fragile X mental retardation 1 1.644
NR0B1 nuclear receptor subfamily 0, group B, member 1 1.62
MRPS22 mitochondrial ribosomal protein S22 1.615
SRY sex determining region Y 1.609
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1.591
SYCE1 synaptonemal complex central element protein 1 1.579
PROK2 prokineticin 2 1.578
DMRT1 doublesex and mab-3 related transcription factor 1 1.571
AMH anti-Mullerian hormone 1.566
HSPG2 heparan sulfate proteoglycan 2 1.566
FOXE3 forkhead box E3 1.565
SOX9 SRY (sex determining region Y)-box 9 1.564
PHOX2B paired-like homeobox 2b 1.556
ALX3 ALX homeobox 3 1.547
FOXC1 forkhead box C1 1.529
CXXC5 CXXC finger protein 5 1.527
RSPO1 R-spondin 1 1.527
PAX6 paired box 6 1.525
FOXP2 forkhead box P2 1.523
HOXD13 homeobox D13 1.523
MRPL46 mitochondrial ribosomal protein L46 1.52
TRAF7 TNF receptor-associated factor 7, E3 ubiquitin protein ligase 1.518
INHBB inhibin, beta B 1.512
ING5 inhibitor of growth family, member 5 1.507
DMRT2 doublesex and mab-3 related transcription factor 2 1.506
SMAD9 SMAD family member 9 1.476
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10 1.474
AFF2 AF4/FMR2 family, member 2 1.464
ARPIN actin-related protein 2/3 complex inhibitor 1.464
FREM2 FRAS1 related extracellular matrix protein 2 1.448
BHLHA9 basic helix-loop-helix family, member a9 1.445
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa 1.44
FRAS1 Fraser extracellular matrix complex subunit 1 1.436
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 1.435
ZBTB24 zinc finger and BTB domain containing 24 1.432
C15ORF38-AP3S2 C15orf38-AP3S2 readthrough 1.431
LHX9 LIM homeobox 9 1.428
FBN3 fibrillin 3 1.426
MRPS11 mitochondrial ribosomal protein S11 1.423
POLG polymerase (DNA directed), gamma 1.423
TWNK twinkle mtDNA helicase 1.418
NANOS1 nanos homolog 1 (Drosophila) 1.409
ALX4 ALX homeobox 4 1.409
GMEB1 glucocorticoid modulatory element binding protein 1 1.397
NSUN2 NOP2/Sun RNA methyltransferase family, member 2 1.393
STAG3 stromal antigen 3 1.388
PIEZO2 piezo-type mechanosensitive ion channel component 2 1.386
PZP pregnancy-zone protein 1.383
GDF6 growth differentiation factor 6 1.382
DIAPH2 diaphanous-related formin 2 1.362
SOX10 SRY (sex determining region Y)-box 10 1.362
SETD5 SET domain containing 5 1.36
DMC1 DNA meiotic recombinase 1 1.359
PMM2 phosphomannomutase 2 1.348
RERE arginine-glutamic acid dipeptide (RE) repeats 1.331
KAT2A K(lysine) acetyltransferase 2A 1.327
FOXI3 forkhead box I3 1.312
AIRE autoimmune regulator 1.305
FREM1 FRAS1 related extracellular matrix 1 1.305
DPF2 D4, zinc and double PHD fingers family 2 1.296
OR6C4 olfactory receptor, family 6, subfamily C, member 4 1.292
KAT2B K(lysine) acetyltransferase 2B 1.284
PITX2 paired-like homeodomain 2 1.283
DHH desert hedgehog 1.276
ALG14 ALG14, UDP-N-acetylglucosaminyltransferase subunit 1.272
NANOS3 nanos homolog 3 (Drosophila) 1.268
SHOX short stature homeobox 1.267
COPB2 coatomer protein complex, subunit beta 2 (beta prime) 1.265
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1 1.263
FOXI2 forkhead box I2 1.251
ALX1 ALX homeobox 1 1.249
PAX3 paired box 3 1.246
VSX2 visual system homeobox 2 1.246
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) 1.244
NR2C1 nuclear receptor subfamily 2, group C, member 1 1.238
MSH4 mutS homolog 4 1.229
NGRN neugrin, neurite outgrowth associated 1.228
C18ORF63 chromosome 18 open reading frame 63 1.227
MRPS2 mitochondrial ribosomal protein S2 1.226
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 1.221
LARS2 leucyl-tRNA synthetase 2, mitochondrial 1.218
SPATA22 spermatogenesis associated 22 1.213
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2 1.211
CBX2 chromobox homolog 2 1.207
AMHR2 anti-Mullerian hormone receptor, type II 1.202
SOX14 SRY (sex determining region Y)-box 14 1.196
ZFPM2 zinc finger protein, FOG family member 2 1.193
BMP4 bone morphogenetic protein 4 1.192
FST follistatin 1.191
ECEL1 endothelin converting enzyme-like 1 1.189
RTL1 retrotransposon-like 1 1.189
KANSL1 KAT8 regulatory NSL complex subunit 1 1.188
STAR steroidogenic acute regulatory protein 1.185
CXXC4 CXXC finger protein 4 1.184
CHD7 chromodomain helicase DNA binding protein 7 1.179
CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 1.178
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4 1.177
RUNX2 runt-related transcription factor 2 1.17
PQBP1 polyglutamine binding protein 1 1.168
ZFHX4 zinc finger homeobox 4 1.158
LIFR leukemia inhibitory factor receptor alpha 1.157
AP3S2 adaptor-related protein complex 3, sigma 2 subunit 1.154
SGO2 shugoshin 2 1.154
FSHB follicle stimulating hormone, beta polypeptide 1.151
OTX2 orthodenticle homeobox 2 1.151
SOX8 SRY (sex determining region Y)-box 8 1.149
MED13L mediator complex subunit 13-like 1.147
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 1.145
DCDC1 doublecortin domain containing 1 1.135
KAT7 K(lysine) acetyltransferase 7 1.132
GPR173 G protein-coupled receptor 173 1.13
A2ML1 alpha-2-macroglobulin-like 1 1.124
CHD8 chromodomain helicase DNA binding protein 8 1.122
ARID1B AT rich interactive domain 1B (SWI1-like) 1.122
SIX3 SIX homeobox 3 1.122
MEIOB meiosis specific with OB domains 1.12
PITX3 paired-like homeodomain 3 1.119
GATA4 GATA binding protein 4 1.115
POF1B premature ovarian failure, 1B 1.112
ELP4 elongator acetyltransferase complex subunit 4 1.108
FOXF1 forkhead box F1 1.108
UFSP2 UFM1-specific peptidase 2 1.108
SMC1B structural maintenance of chromosomes 1B 1.108
PTCD3 pentatricopeptide repeat domain 3 1.107
REC8 REC8 meiotic recombination protein 1.107
SPATA16 spermatogenesis associated 16 1.104
SETD1B SET domain containing 1B 1.103
MND1 meiotic nuclear divisions 1 homolog (S. cerevisiae) 1.102
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit 1.099
MKS1 Meckel syndrome, type 1 1.096
DET1 de-etiolated homolog 1 (Arabidopsis) 1.095
SCGB2B2 secretoglobin, family 2B, member 2 1.093
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic 1.093
ARX aristaless related homeobox 1.093
TLE6 transducin-like enhancer of split 6 1.086
FOXG1 forkhead box G1 1.083
B3GLCT beta 3-glucosyltransferase 1.078
HNF1B HNF1 homeobox B 1.076
KMT2D lysine (K)-specific methyltransferase 2D 1.074
ZIC1 Zic family member 1 1.072
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 1.069
WT1 Wilms tumor 1 1.068
ZIC4 Zic family member 4 1.062
UNC45A unc-45 homolog A (C. elegans) 1.059
ZNF670 zinc finger protein 670 1.058
PRIM1 primase, DNA, polypeptide 1 (49kDa) 1.056
PHF10 PHD finger protein 10 1.054
CDK5RAP2 CDK5 regulatory subunit associated protein 2 1.043
BBIP1 BBSome interacting protein 1 1.041
SHOX2 short stature homeobox 2 1.039
SUB1 SUB1 homolog (S. cerevisiae) 1.034
MSH5 mutS homolog 5 1.034
KIF21A kinesin family member 21A 1.03
CEP57 centrosomal protein 57kDa 1.03
LMBR1 limb development membrane protein 1 1.029
SHH sonic hedgehog 1.028
RP9 retinitis pigmentosa 9 (autosomal dominant) 1.023
ZNF75A zinc finger protein 75a 1.02
FBN1 fibrillin 1 1.02
OTUD6B OTU domain containing 6B 1.018
PRSS56 protease, serine, 56 1.018
EIF4ENIF1 eukaryotic translation initiation factor 4E nuclear import factor 1 1.018
RBP1 retinol binding protein 1, cellular 1.017
BRWD3 bromodomain and WD repeat domain containing 3 1.017
ZP1 zona pellucida glycoprotein 1 (sperm receptor) 1.016
DACH2 dachshund family transcription factor 2 1.016
DPY19L2 dpy-19-like 2 (C. elegans) 1.015
UPK3B uroplakin 3B 1.012
H3-3B H3.3 histone B 1.011
MEIKIN meiotic kinetochore factor 1.008
MAN2A2 mannosidase, alpha, class 2A, member 2 1.007
H3-4 H3.4 histone, cluster member 1.006
H3-5 H3.5 histone 1.006
H3C13 H3 clustered histone 13 1.006
PSMC3IP PSMC3 interacting protein 1.004
KRBOX1 KRAB box domain containing 1 1.001
LHCGR luteinizing hormone/choriogonadotropin receptor 1.001
MED13 mediator complex subunit 13 1.0