# GREAT version 4.0.4 Species assembly: hg38 Association rule: Basal+extension: 5000 bp upstream, 1000 bp downstream, 1000000 bp max extension, curated regulatory domains included # Ontology Term Name Binom Rank Binom Raw P-Value Binom FDR Q-Val Binom Fold Enrichment Binom Observed Region Hits Binom Region Set Coverage Hyper Rank Hyper FDR Q-Val Hyper Fold Enrichment Hyper Observed Gene Hits Hyper Total Genes Hyper Gene Set Coverage GO Biological Process adherens junction assembly 127 4.416814e-20 4.576445309133859e-18 2.982739 97 0.01093204 799 0.015202879266458072 1.751957 22 34 0.003172314 GO Biological Process mammary gland epithelial cell differentiation 148 3.677353e-18 3.269614062635135e-16 3.126141 81 0.009128818 628 0.0035141926699044585 2.229764 14 17 0.002018745 GO Biological Process mesoderm formation 153 1.41118e-17 1.213707033986928e-15 2.007213 182 0.02051166 372 0.00005847700418548387 1.778106 44 67 0.006344629 GO Biological Process positive regulation of epithelial to mesenchymal transition 165 1.122278e-16 8.950337092121212e-15 2.082054 157 0.01769413 419 0.00020096041650119332 1.907606 31 44 0.004470079 GO Biological Process interferon-gamma secretion 192 4.662797e-15 3.195715923072917e-13 5.390113 35 0.003944551 944 0.03533294653177966 2.70757 6 6 0.0008651766 GO Biological Process DNA damage response, detection of DNA damage 278 1.505563e-12 7.12651205647482e-11 2.622652 71 0.008001803 662 0.005653225665861027 1.781296 25 38 0.003604903 GO Biological Process thyroid gland development 309 7.66357e-12 3.263589567313916e-10 3.009909 53 0.005973177 993 0.03930732443504532 1.805047 16 24 0.002307138 GO Biological Process positive regulation of stem cell differentiation 311 8.11062e-12 3.431757189067524e-10 2.277781 87 0.009805026 462 0.0005335641252597402 2.389033 15 17 0.002162942 GO Biological Process metanephric mesenchyme development 353 6.910046e-11 2.575900717110482e-9 2.765589 55 0.00619858 470 0.0006088319326595745 2.514172 13 14 0.001874549 GO Biological Process response to laminar fluid shear stress 358 7.88904e-11 2.8997731106145247e-9 2.886016 51 0.005747774 654 0.005106933453058104 2.320775 12 14 0.001730353 GO Biological Process positive regulation of mesonephros development 371 1.155097e-10 4.097013860646901e-9 2.309488 75 0.008452609 758 0.012080418572163588 1.969142 16 22 0.002307138 GO Biological Process membrane raft assembly 392 2.253257e-10 7.56393083239796e-9 4.399315 28 0.003155641 518 0.0011948608252316602 2.70757 10 10 0.001441961 GO Biological Process kidney mesenchyme development 423 6.612513e-10 2.0570699424822697e-8 2.356115 66 0.007438296 429 0.00023743299017482515 2.406729 16 18 0.002307138 GO Biological Process mesodermal cell differentiation 424 6.641461e-10 2.061202483466981e-8 2.130843 82 0.009241519 501 0.0009997590961477046 2.082746 20 26 0.002883922 GO Biological Process diaphragm development 438 9.203767e-10 2.7651226016666667e-8 3.30013 37 0.004169954 677 0.0067125866661742984 2.70757 8 8 0.001153569 GO Biological Process cell proliferation in hindbrain 500 8.129135e-9 2.1394257493e-7 2.979802 38 0.004282655 806 0.015275657802605458 2.70757 7 7 0.001009373 GO Biological Process negative regulation of cyclin-dependent protein serine/threonine kinase activity 501 8.141827e-9 2.1384890517564872e-7 2.684898 45 0.005071565 483 0.0008031825864389234 2.143493 19 24 0.002739726 GO Biological Process membrane raft organization 524 1.201502e-8 3.0172833622137406e-7 2.758069 42 0.004733461 468 0.0005973797978205129 2.215285 18 22 0.00259553 GO Biological Process smooth muscle tissue development 526 1.293778e-8 3.236658688593156e-7 2.061631 75 0.008452609 745 0.010670504159463088 2.030678 15 20 0.002162942 GO Biological Process cerebellar granule cell precursor proliferation 540 1.810717e-8 4.4124490746296297e-7 2.93735 37 0.004169954 944 0.03533294653177966 2.70757 6 6 0.0008651766 GO Cellular Component clathrin adaptor complex 105 3.937173e-7 0.000006479461851428572 2.285304 47 0.005296968 94 0.016555227165957448 1.805047 20 30 0.002883922 GO Molecular Function mRNA 5'-UTR binding 84 4.882697e-8 0.000002454136515952381 2.921692 35 0.003944551 106 0.02771664534528302 1.969142 16 22 0.002307138 Human Phenotype Abnormal localization of kidney 88 7.111881e-12 5.392907035568182e-10 2.143582 100 0.01127015 256 0.034374525847656254 1.613021 28 47 0.004037491 Human Phenotype Ectopic kidney 187 3.97203e-8 0.0000014173987267379677 2.169017 62 0.00698749 274 0.03849836355109489 1.841148 17 25 0.002451334 Human Phenotype Cutis marmorata 224 1.358652e-7 0.000004047448569642857 2.120852 60 0.006762087 222 0.023168172057207205 1.917862 17 24 0.002451334 Human Phenotype Pancreatic islet-cell hyperplasia 275 7.422242e-7 0.000018010407587636363 2.901448 29 0.003268342 157 0.005417277410191083 2.70757 9 9 0.001297765 Human Phenotype Abnormality of the pancreatic islet cells 287 8.977926e-7 0.000020874459999303135 2.75773 31 0.003493745 285 0.043108844357894735 2.127377 11 14 0.001586157 Human Phenotype Absent or minimally ossified vertebral bodies 677 0.0004020173 0.003962572293796159 2.030839 29 0.003268342 241 0.02590694231659751 2.70757 7 7 0.001009373 Mouse Phenotype Single KO abnormal liver sinusoid morphology 69 4.910467e-18 6.51668787231884e-16 2.458898 120 0.01352417 530 0.008771588780943395 1.558904 38 66 0.005479452 Mouse Phenotype Single KO abnormal metanephros morphology 71 9.157001e-18 1.180995185309859e-15 2.913006 88 0.009917728 547 0.010113097938574041 2.030678 15 20 0.002162942 Mouse Phenotype Single KO enlarged liver sinusoidal spaces 106 6.725602e-15 5.810031840943396e-13 2.699719 82 0.009241519 427 0.003211171184309133 1.829439 25 37 0.003604903 Mouse Phenotype Single KO abnormal fourth pharyngeal arch morphology 147 1.742205e-13 1.0852633459183673e-11 2.501467 84 0.009466922 658 0.019365231949848023 1.933979 15 21 0.002162942 Mouse Phenotype Single KO interrupted aortic arch 149 1.891996e-13 1.1627521726174496e-11 2.154258 114 0.01284797 605 0.013773534091404959 1.710044 24 38 0.003460707 Mouse Phenotype Single KO abnormal thyroid cartilage morphology 152 2.434519e-13 1.466637531776316e-11 2.665423 74 0.008339908 770 0.030000365567532467 1.955467 13 18 0.001874549 Mouse Phenotype Single KO abnormal facial nerve morphology 153 2.467782e-13 1.476959462352941e-11 2.45395 86 0.009692325 357 0.0011948651241736694 2.030678 21 28 0.003028118 Mouse Phenotype Single KO abnormal interventricular septum thickness 155 2.741249e-13 1.6194591672903226e-11 2.495178 83 0.009354221 666 0.01974991659459459 1.637136 26 43 0.003749099 Mouse Phenotype Single KO interrupted aorta 177 2.554081e-12 1.3213400970056498e-10 2.035696 118 0.01329877 602 0.013595537840863786 1.692231 25 40 0.003604903 Mouse Phenotype Single KO single kidney 183 3.820285e-12 1.9116038112021857e-10 2.029239 117 0.01318607 692 0.021467316164739885 1.701901 22 35 0.003172314 Mouse Phenotype Single KO abnormal fourth pharyngeal arch artery morphology 185 4.936289e-12 2.443329641783784e-10 2.533889 72 0.008114505 746 0.027319676278820378 2.030678 12 16 0.001730353 Mouse Phenotype Single KO abnormal Wolffian duct morphology 191 8.314067e-12 3.9859639538743456e-10 2.003235 117 0.01318607 778 0.030871507268637532 1.638793 23 38 0.00331651 Mouse Phenotype Single KO abnormal Mullerian duct morphology 210 2.986144e-11 1.3021009813333334e-9 2.335915 78 0.008790713 419 0.0031151064988066825 1.85662 24 35 0.003460707 Mouse Phenotype Single KO small basisphenoid bone 230 7.272104e-11 2.895245927304348e-9 2.703795 57 0.006423983 850 0.042804805871764696 2.082746 10 13 0.001441961 Mouse Phenotype Single KO abnormal premaxilla morphology 240 1.320783e-10 5.03933747125e-9 2.090328 93 0.01048124 357 0.0011948651241736694 2.030678 21 28 0.003028118 Mouse Phenotype Single KO pale kidney 242 1.503639e-10 5.6895960012396685e-9 2.357573 71 0.008001803 704 0.021590658154829547 1.74682 20 31 0.002883922 Mouse Phenotype Single KO iris synechia 276 6.256191e-10 2.0756500357608692e-8 2.325109 68 0.007663699 547 0.010113097938574041 2.030678 15 20 0.002162942 Mouse Phenotype Single KO abnormal palatine bone horizontal plate morphology 295 1.266867e-9 3.932441057288136e-8 2.03961 88 0.009917728 697 0.021417999658536583 1.805047 18 27 0.00259553 Mouse Phenotype Single KO abnormal lacrimal apparatus morphology 301 1.478133e-9 4.4967654089701e-8 2.27477 68 0.007663699 787 0.03185937880559085 1.895299 14 20 0.002018745 Mouse Phenotype Single KO increased NK T cell number 322 2.908963e-9 8.272476456832298e-8 2.127209 76 0.00856531 884 0.04994070349321267 1.640952 20 33 0.002883922 Mouse Phenotype absent kidney 45 6.099232e-27 1.2958834922666667e-24 2.155116 243 0.02738645 254 7.151665641732284e-7 1.895299 49 70 0.007065609 Mouse Phenotype perimembraneous ventricular septal defect 53 2.227153e-24 4.017699968490566e-22 2.01006 258 0.02907698 228 2.1651991563157897e-7 1.814965 61 91 0.008795963 Mouse Phenotype abnormal liver sinusoid morphology 78 4.478481e-21 5.489584210384616e-19 2.360654 154 0.01735602 454 0.0001812139923105727 1.666197 48 78 0.006921413 Mouse Phenotype abnormal thyroid cartilage morphology 106 1.035843e-18 9.343108417924529e-17 2.723041 104 0.01172095 1156 0.02481832966349481 1.770334 17 26 0.002451334 Mouse Phenotype abnormal fourth pharyngeal arch artery morphology 117 5.265458e-18 4.302824268205128e-16 2.561444 111 0.01250986 601 0.0015220970414475871 2.005608 20 27 0.002883922 Mouse Phenotype abnormal fourth pharyngeal arch morphology 124 1.756676e-17 1.3544821964516128e-15 2.436643 118 0.01329877 627 0.001869934890430622 1.921502 22 31 0.003172314 Mouse Phenotype abnormal cell adhesion 132 6.246351e-17 4.524345599318182e-15 2.10241 156 0.01758143 1199 0.029582690897414513 1.425037 40 76 0.005767844 Mouse Phenotype abnormal metanephros morphology 137 9.313293e-17 6.499590830145985e-15 2.674372 95 0.01070664 766 0.005347544686684073 1.905327 19 27 0.002739726 Mouse Phenotype abnormal pulmonary valve cusp morphology 141 1.378775e-16 9.349267925531914e-15 2.90353 82 0.009241519 1330 0.03831964691954887 1.704766 17 27 0.002451334 Mouse Phenotype interrupted aortic arch 142 1.489202e-16 1.0026943888732396e-14 2.097562 153 0.01724332 598 0.0014610140117558529 1.748639 31 48 0.004470079 Mouse Phenotype enlarged liver sinusoidal spaces 146 2.767862e-16 1.8125704508219178e-14 2.62624 95 0.01070664 545 0.000783809727412844 1.849072 28 41 0.004037491 Mouse Phenotype cervical vertebral fusion 148 3.782908e-16 2.4438096883783784e-14 2.30323 121 0.01363688 446 0.00016059320153811657 1.861455 33 48 0.004758472 Mouse Phenotype interrupted aorta 163 1.771003e-15 1.0388073425153375e-13 2.013109 157 0.01769413 599 0.0014608566343572622 1.732845 32 50 0.004614275 Mouse Phenotype abnormal third pharyngeal arch artery morphology 175 8.950049e-15 4.889795342228571e-13 2.832255 75 0.008452609 1342 0.038695703816691504 1.805047 14 21 0.002018745 Mouse Phenotype abnormal pharyngeal pouch morphology 185 1.721885e-14 8.89888782972973e-13 2.972016 68 0.007663699 829 0.0069673417433051875 2.030678 15 20 0.002162942 Mouse Phenotype abnormal lacrimal gland development 189 2.738782e-14 1.3854759101587302e-12 4.248452 42 0.004733461 743 0.004443960520861373 2.70757 8 8 0.001153569 Mouse Phenotype abnormal laryngeal cartilage morphology 193 4.364703e-14 2.162224113108808e-12 2.110207 126 0.01420038 799 0.006102059951188986 1.77926 23 35 0.00331651 Mouse Phenotype thoracic vertebral transformation 220 2.675004e-13 1.1625324201818182e-11 2.480568 84 0.009466922 1082 0.021326155120147874 1.520039 32 57 0.004614275 Mouse Phenotype abnormal meninges morphology 223 3.89892e-13 1.6716400950672646e-11 2.638746 74 0.008339908 1143 0.024811723496062994 1.805047 16 24 0.002307138 Mouse Phenotype abnormal third pharyngeal arch morphology 235 8.113057e-13 3.300805871361702e-11 2.441833 83 0.009354221 895 0.00931311051083799 1.83728 19 28 0.002739726