exophthalmos Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description An eye disease that is characterized by a bulging of the eye anteriorly out of the orbit. (Human Disease Ontology, DOID_9370)
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Genes

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

Symbol Name Standardized Value
PABPN1 poly(A) binding protein, nuclear 1 3.30737
PITX1 paired-like homeodomain 1 1.77631
EIF6 eukaryotic translation initiation factor 6 1.6877
FGFR2 fibroblast growth factor receptor 2 1.59474
TSHR thyroid stimulating hormone receptor 1.35245
TRH thyrotropin-releasing hormone 1.20396
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 1.16264
TG thyroglobulin 1.12909
GPHB5 glycoprotein hormone beta 5 1.04041
TPO thyroid peroxidase 0.965825
ARHGAP11B Rho GTPase activating protein 11B 0.961634
NF1 neurofibromin 1 0.958287
SCYL1 SCY1-like 1 (S. cerevisiae) 0.939119
MTMR10 myotubularin related protein 10 0.927519
CASQ2 calsequestrin 2 (cardiac muscle) 0.926279
OTUD7A OTU deubiquitinase 7A 0.919673
PRMT3 protein arginine methyltransferase 3 0.915963
CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle) 0.912257
CD34 CD34 molecule 0.905265
DNAJB1 DnaJ (Hsp40) homolog, subfamily B, member 1 0.888848
RDH13 retinol dehydrogenase 13 (all-trans/9-cis) 0.885569
PAF1 Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) 0.879833
SYT5 synaptotagmin V 0.870006
MYH7 myosin, heavy chain 7, cardiac muscle, beta 0.838885
FAF2 Fas associated factor family member 2 0.826999
OR5AC2 olfactory receptor, family 5, subfamily AC, member 2 0.825768
SST somatostatin 0.823308
ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 0.811001
MYH6 myosin, heavy chain 6, cardiac muscle, alpha 0.758601
PRTN3 proteinase 3 0.758601
PCOLCE procollagen C-endopeptidase enhancer 0.748017
TFPT TCF3 (E2A) fusion partner (in childhood Leukemia) 0.746798
MUSTN1 musculoskeletal, embryonic nuclear protein 1 0.746391
FKBP1C FK506 binding protein 1C 0.733406
RNF135 ring finger protein 135 0.72612
KLF13 Kruppel-like factor 13 0.707961
GPHA2 glycoprotein hormone alpha 2 0.689893
FGFR3 fibroblast growth factor receptor 3 0.685491
SLC25A16 solute carrier family 25 (mitochondrial carrier), member 16 0.684692
CD68 CD68 molecule 0.680697
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 0.656046
FAM155B family with sequence similarity 155, member B 0.65565
SNX10 sorting nexin 10 0.649718
CPT1C carnitine palmitoyltransferase 1C 0.645375
KNTC1 kinetochore associated 1 0.631598
PGBD1 piggyBac transposable element derived 1 0.617094
CD99 CD99 molecule 0.610448
SDCBP syndecan binding protein (syntenin) 0.605762
HNRNPC heterogeneous nuclear ribonucleoprotein C (C1/C2) 0.60069
KIF21A kinesin family member 21A 0.581996
GMFB glia maturation factor, beta 0.569552
PRMT1 protein arginine methyltransferase 1 0.566054
IL11RA interleukin 11 receptor, alpha 0.563335
HSPA4 heat shock 70kDa protein 4 0.553239
MAGEA9B melanoma antigen family A9B 0.535409
MAGEA9 melanoma antigen family A9 0.535409
SNW1 SNW domain containing 1 0.532701
ENO2 enolase 2 (gamma, neuronal) 0.521888
FLNA filamin A, alpha 0.521888
BRDT bromodomain, testis-specific 0.50459
SRL sarcalumenin 0.499614
POMC proopiomelanocortin 0.490835
PRSS50 protease, serine, 50 0.485885
HLA-DRB1 major histocompatibility complex, class II, DR beta 1 0.481325
MBD5 methyl-CpG binding domain protein 5 0.466172
SYNM synemin, intermediate filament protein 0.465794
NCAM1 neural cell adhesion molecule 1 0.465416
HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 0.464283
FAN1 FANCD2/FANCI-associated nuclease 1 0.459751
SYP synaptophysin 0.458241
SNRNP40 small nuclear ribonucleoprotein 40kDa (U5) 0.440162
CD79A CD79a molecule, immunoglobulin-associated alpha 0.424014
FMN2 formin 2 0.422515
HSPH1 heat shock 105kDa/110kDa protein 1 0.416896
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like 0.412779
HBA2 hemoglobin, alpha 2 0.402318
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3 0.396353
MLF1 myeloid leukemia factor 1 0.385936
SRSF3 serine/arginine-rich splicing factor 3 0.377031
MYOG myogenin (myogenic factor 4) 0.372958
FGFR1 fibroblast growth factor receptor 1 0.371847
MYH2 myosin, heavy chain 2, skeletal muscle, adult 0.360395
CRP C-reactive protein, pentraxin-related 0.358551
CD163 CD163 molecule 0.355604
HBA1 hemoglobin, alpha 1 0.355235
NLRP7 NLR family, pyrin domain containing 7 0.353395
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1 0.352291
MS4A1 membrane-spanning 4-domains, subfamily A, member 1 0.350452
RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 0.344207
TLK2 tousled-like kinase 2 0.33651
LAX1 lymphocyte transmembrane adaptor 1 0.331025
KARS lysyl-tRNA synthetase 0.331025
OSTM1 osteopetrosis associated transmembrane protein 1 0.331025
CD19 CD19 molecule 0.324458
MYOD1 myogenic differentiation 1 0.32373
SOX6 SRY (sex determining region Y)-box 6 0.323365
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6 0.321545
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1 0.319363
FAM20C family with sequence similarity 20, member C 0.313189
PCP2 Purkinje cell protein 2 0.312464
AURKAIP1 aurora kinase A interacting protein 1 0.310652
PARVA parvin, alpha 0.305948
NT5C2 5'-nucleotidase, cytosolic II 0.296211
CD59 CD59 molecule, complement regulatory protein 0.295851
PABPC1 poly(A) binding protein, cytoplasmic 1 0.285444
ARID1B AT rich interactive domain 1B (SWI1-like) 0.283655
BCAN brevican 0.27794
STOM stomatin 0.276514
TRPM1 transient receptor potential cation channel, subfamily M, member 1 0.275801
SRRM1 serine/arginine repetitive matrix 1 0.26514
PRC1 protein regulator of cytokinesis 1 0.26266
DNAJA1 DnaJ (Hsp40) homolog, subfamily A, member 1 0.257711
HMGB2 high mobility group box 2 0.253127
SCRT1 scratch family zinc finger 1 0.250311
PDIA3 protein disulfide isomerase family A, member 3 0.248905
TNNT1 troponin T type 1 (skeletal, slow) 0.246448
SIRT1 sirtuin 1 0.244345
CLCN7 chloride channel, voltage-sensitive 7 0.240847
ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide 0.235964
SEPT2 septin 2 0.234225
PRL prolactin 0.234225
CTLA4 cytotoxic T-lymphocyte-associated protein 4 0.229716
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal) 0.227988
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 0.214297
NF2 neurofibromin 2 (merlin) 0.204923
IL6R interleukin 6 receptor 0.201635
PTBP1 polypyrimidine tract binding protein 1 0.201635
AMPD1 adenosine monophosphate deaminase 1 0.198709
TOB1 transducer of ERBB2, 1 0.195501
BCO1 beta-carotene oxygenase 1 0.193915
CELF1 CUGBP, Elav-like family member 1 0.190168
SSTR3 somatostatin receptor 3 0.18472
F8 coagulation factor VIII, procoagulant component 0.181222
CLDN11 claudin 11 0.174354
ARHGEF16 Rho guanine nucleotide exchange factor (GEF) 16 0.173057
FLNB filamin B, beta 0.170054
DHDH dihydrodiol dehydrogenase (dimeric) 0.169091
GFAP glial fibrillary acidic protein 0.167452
BBC3 BCL2 binding component 3 0.167224
LSS lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 0.166768
TBK1 TANK-binding kinase 1 0.160574
HNRNPK heterogeneous nuclear ribonucleoprotein K 0.160203
MYF5 myogenic factor 5 0.160021
SETD1A SET domain containing 1A 0.158778