blepharophimosis Gene Set

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

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

Symbol Name Standardized Value
FOXL2 forkhead box L2 3.21871
FOXP2 forkhead box P2 1.93562
EIF4E3 eukaryotic translation initiation factor 4E family member 3 1.54893
UBE3B ubiquitin protein ligase E3B 1.48296
SCARF2 scavenger receptor class F, member 2 1.40483
GPR27 G protein-coupled receptor 27 1.40395
COPB2 coatomer protein complex, subunit beta 2 (beta prime) 1.32629
GMEB1 glucocorticoid modulatory element binding protein 1 1.30401
GDF9 growth differentiation factor 9 1.17808
MRPS22 mitochondrial ribosomal protein S22 1.13501
SOX14 SRY (sex determining region Y)-box 14 1.1009
NR2C1 nuclear receptor subfamily 2, group C, member 1 1.10006
CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase 0.994439
CXXC4 CXXC finger protein 4 0.990222
ALX3 ALX homeobox 3 0.975482
KAT6B K(lysine) acetyltransferase 6B 0.932898
ZIC4 Zic family member 4 0.930828
FSHR follicle stimulating hormone receptor 0.870006
MED12 mediator complex subunit 12 0.863046
RP9 retinitis pigmentosa 9 (autosomal dominant) 0.806488
TBX20 T-box 20 0.804436
ZIC1 Zic family member 1 0.789672
FOXP1 forkhead box P1 0.783526
DDT D-dopachrome tautomerase 0.781069
CXXC5 CXXC finger protein 5 0.733406
MMP23B matrix metallopeptidase 23B 0.724502
CRYAA crystallin, alpha A 0.722482
BCL9 B-cell CLL/lymphoma 9 0.71078
ZFPM2 zinc finger protein, FOG family member 2 0.689893
TWIST2 twist family bHLH transcription factor 2 0.686691
PIAS1 protein inhibitor of activated STAT, 1 0.656837
OXA1L oxidase (cytochrome c) assembly 1-like 0.653276
ALX4 ALX homeobox 4 0.646953
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 0.595623
FLAD1 flavin adenine dinucleotide synthetase 1 0.55712
PTER phosphotriesterase related 0.548195
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 0.527676
PMM2 phosphomannomutase 2 0.497703
RBP1 retinol binding protein 1, cellular 0.496557
PROK2 prokineticin 2 0.485125
SEPT9 septin 9 0.476014
GJA4 gap junction protein, alpha 4, 37kDa 0.468063
SHOX short stature homeobox 0.456355
HEY1 hes-related family bHLH transcription factor with YRPW motif 1 0.452208
AIRE autoimmune regulator 0.410161
RECQL4 RecQ protein-like 4 0.402318
ATM ATM serine/threonine kinase 0.398216
HMOX2 heme oxygenase 2 0.379256
BANF1 barrier to autointegration factor 1 0.378143
SRY sex determining region Y 0.364085
FBN2 fibrillin 2 0.355604
IGFBP5 insulin-like growth factor binding protein 5 0.346409
GALT galactose-1-phosphate uridylyltransferase 0.331391
RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 0.316819
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 0.307395
LATS1 large tumor suppressor kinase 1 0.296931
LAX1 lymphocyte transmembrane adaptor 1 0.287593
ATR ATR serine/threonine kinase 0.281153
PML promyelocytic leukemia 0.279724
UBE3A ubiquitin protein ligase E3A 0.275801
FST follistatin 0.266913
C1QBP complement component 1, q subcomponent binding protein 0.265849
CREM cAMP responsive element modulator 0.234573
MCM8 minichromosome maintenance complex component 8 0.226607
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 0.223165
GOLPH3 golgi phosphoprotein 3 (coat-protein) 0.216332
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 0.20229
PAX5 paired box 5 0.180652
PPT1 palmitoyl-protein thioesterase 1 0.166768
SOX9 SRY (sex determining region Y)-box 9 0.164786
PAX3 paired box 3 0.160387
NOTCH1 notch 1 0.158605