# 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 thyroid gland development 150 1.55101e-11 1.3606493726666667e-9 3.601888 40 0.007147963 829 0.01963306926658625 2.040978 15 24 0.002608696 GO Biological Process maintenance of protein location in cell 248 1.496284e-8 7.939355304838711e-7 2.152007 67 0.01197284 705 0.007923382940141844 1.592959 40 82 0.006956522 GO Biological Process positive regulation of stress fiber assembly 284 3.822629e-8 0.0000017711963032042253 2.201255 60 0.01072194 502 0.0009710348521713147 1.945443 28 47 0.004869565 GO Biological Process positive regulation of actin filament bundle assembly 332 1.416406e-7 0.000005614001974096385 2.072866 63 0.01125804 545 0.0015577670075412843 1.840591 31 55 0.005391304 GO Biological Process organelle transport along microtubule 348 2.208656e-7 0.000008351639167816092 2.05896 62 0.01107934 1030 0.048442277802912624 1.533826 31 66 0.005391304 GO Biological Process negative regulation of peptidyl-tyrosine phosphorylation 356 2.872045e-7 0.000010616078695224719 2.26432 49 0.008756254 961 0.036720470207075966 1.667523 24 47 0.004173913 GO Biological Process mesodermal cell differentiation 357 2.882974e-7 0.000010626626012885154 2.183767 53 0.009471051 533 0.001397587023076923 2.260776 18 26 0.003130435 GO Biological Process positive regulation of extrinsic apoptotic signaling pathway 388 5.74673e-7 0.00001949000517268041 2.039249 59 0.01054325 618 0.003575971025728156 1.828717 28 50 0.004869565 GO Biological Process positive regulation of extracellular matrix organization 392 6.638981e-7 0.000022286314025255103 2.743907 32 0.00571837 689 0.006408496025689404 2.358464 13 18 0.00226087 GO Biological Process regulation of transforming growth factor beta production 437 0.000001640596 0.000049401836988558346 2.305827 41 0.007326662 995 0.042190729653266326 1.866037 16 28 0.002782609 GO Biological Process regulation of transforming growth factor beta2 production 449 0.000001963279 0.000057538504144766146 3.311617 22 0.00393138 850 0.02284342023411765 2.85737 7 8 0.001217391 GO Biological Process response to laminar fluid shear stress 455 0.00000211147 0.00006106556863736263 2.691799 30 0.005360972 674 0.005861522312462908 2.565801 11 14 0.001913043 GO Biological Process negative regulation of cardiac muscle hypertrophy in response to stress 492 0.000004087777 0.0001093314177703252 3.519058 19 0.003395282 784 0.013815617315561224 3.265565 6 6 0.001043478 GO Biological Process heterochromatin assembly 560 0.00001073027 0.0002521421838035714 3.746546 16 0.002859185 885 0.0273806375740113 2.612452 8 10 0.001391304 GO Biological Process peroxisome proliferator activated receptor signaling pathway 590 0.00001342342 0.00029938776911864407 3.879039 15 0.002680486 850 0.02284342023411765 2.85737 7 8 0.001217391 GO Biological Process paraxial mesoderm development 719 0.00005310916 0.0009719936529068151 2.194061 32 0.00571837 1033 0.04912554057696031 2.113013 11 17 0.001913043 GO Biological Process paraxial mesoderm morphogenesis 793 0.00008919592 0.0014801123723581335 2.265059 28 0.005003574 620 0.0036263890562903225 2.939009 9 10 0.001565217 GO Biological Process hepatocyte apoptotic process 818 0.0001127115 0.0018131670275061127 2.940303 17 0.003037884 906 0.028799197714128033 2.449174 9 12 0.001565217 GO Biological Process negative regulation of DNA replication 833 0.0001228839 0.0019412115727490996 2.041413 34 0.006075768 950 0.03477718696631579 1.76517 20 37 0.003478261 GO Biological Process definitive hemopoiesis 884 0.0001763793 0.0026255375664027145 2.246253 26 0.004646176 595 0.002868960565546218 2.497197 13 17 0.00226087 GO Cellular Component zonula adherens 214 0.002076373 0.016766226841121494 3.052442 10 0.001786991 90 0.0283307712 2.85737 7 8 0.001217391 GO Molecular Function chromatin DNA binding 35 1.867703e-10 2.2529834474285717e-8 2.072474 93 0.01661901 105 0.04824849327619048 1.475784 47 104 0.008173913 GO Molecular Function R-SMAD binding 58 1.102722e-7 0.000008027055662068965 2.444899 45 0.008041458 74 0.00776713922972973 2.271698 16 23 0.002782609 GO Molecular Function lamin binding 73 5.568768e-7 0.00003220731300821918 2.879554 30 0.005360972 98 0.03502083515918367 2.394748 11 15 0.001913043 GO Molecular Function cyclin binding 105 0.000006334186 0.0002546946027809524 2.201373 40 0.007147963 59 0.0016125578359322034 2.212157 21 31 0.003652174 Human Phenotype Hirsutism 1 8.700706e-20 5.8059811138e-16 2.544458 124 0.02215868 37 0.0009169690325405407 1.834085 41 73 0.007130435 Human Phenotype Coarctation of aorta 39 5.405234e-10 9.248493969743589e-8 2.402454 64 0.01143674 162 0.02133294665308642 1.822641 24 43 0.004173913 Human Phenotype Hamartoma 51 1.435573e-9 1.8783487507843134e-7 2.807686 46 0.008220157 65 0.002498451276 2.29799 19 27 0.003304348 Human Phenotype Limb hypertonia 94 3.750649e-8 0.000002662561784787234 3.069397 33 0.005897069 107 0.008090139397196262 2.497197 13 17 0.00226087 Human Phenotype Adipose tissue loss 244 0.000007339067 0.00020071145119262296 2.873948 24 0.004288778 130 0.012750291023846153 2.721304 10 12 0.00173913 Human Phenotype Short 4th metacarpal 306 0.0000345087 0.0007525377617647058 2.669531 23 0.004110079 214 0.04601130164953271 2.85737 7 8 0.001217391 Human Phenotype Autoimmune thrombocytopenia 319 0.00004398001 0.0009199956323824453 3.059533 18 0.003216583 98 0.0060740417337755105 2.763171 11 13 0.001913043 Human Phenotype Rectal prolapse 678 0.001625103 0.015994560942477875 2.188553 19 0.003395282 178 0.025567483284831462 2.671826 9 11 0.001565217 Mouse Phenotype Single KO vertebral transformation 22 3.491397e-14 1.4532146513181818e-11 2.386742 97 0.01733381 326 0.0003623405237730061 1.703773 48 92 0.008347826 Mouse Phenotype Single KO abnormal sternebra number 24 6.134786e-14 2.3406764750833334e-11 7.256248 25 0.004467477 657 0.010857827033789954 2.511973 10 13 0.00173913 Mouse Phenotype Single KO thin interventricular septum 32 7.350252e-13 2.1033205488750001e-10 4.077852 39 0.006969264 932 0.03344748504184549 2.062462 12 19 0.002086957 Mouse Phenotype Single KO increased sternebra number 38 7.186612e-12 1.7317843706315787e-9 7.66559 20 0.003573981 519 0.004444024426589595 3.265565 7 7 0.001217391 Mouse Phenotype Single KO sacral vertebral transformation 41 9.742699e-12 2.175948652268293e-9 5.719704 25 0.004467477 818 0.02212061415525672 2.332547 10 14 0.00173913 Mouse Phenotype Single KO abnormal response to radiation 65 3.224006e-10 4.541880452615384e-8 2.519642 60 0.01072194 866 0.028355940516166283 1.667523 24 47 0.004173913 Mouse Phenotype Single KO increased integument system tumor incidence 72 8.664109e-10 1.1019061960138887e-7 2.354558 65 0.01161544 922 0.032571021938177874 1.503879 35 76 0.006086957 Mouse Phenotype Single KO abnormal placental labyrinth vasculature morphology 94 3.914708e-9 3.8135086336170214e-7 2.064232 80 0.01429593 402 0.0011647391933084577 1.718719 40 76 0.006956522 Mouse Phenotype Single KO cervical vertebral transformation 103 6.15159e-9 5.468942682524272e-7 2.783189 43 0.00768406 734 0.016961957722070844 1.804654 21 38 0.003652174 Mouse Phenotype Single KO enlarged liver sinusoidal spaces 109 7.977697e-9 6.701997378807339e-7 2.557959 49 0.008756254 679 0.011498892635493373 1.853429 21 37 0.003652174 Mouse Phenotype Single KO abnormal liver sinusoid morphology 113 9.781996e-9 7.926879413451327e-7 2.176842 67 0.01197284 782 0.020426995314578006 1.583304 32 66 0.005565217 Mouse Phenotype Single KO increased mammary gland tumor incidence 121 1.533775e-8 0.0000011607254276859505 2.857344 39 0.006969264 734 0.016961957722070844 1.804654 21 38 0.003652174 Mouse Phenotype Single KO lymphoid hyperplasia 124 1.738808e-8 0.0000012840536174193547 2.799504 40 0.007147963 584 0.007149539427226028 2.026903 18 29 0.003130435 Mouse Phenotype Single KO large lymphoid organs 128 2.687073e-8 0.000001922306832890625 2.639185 43 0.00768406 639 0.010064028793896713 1.938929 19 32 0.003304348 Mouse Phenotype Single KO abnormal erythrocyte osmotic lysis 129 2.719168e-8 0.0000019301877035658914 3.112985 33 0.005897069 776 0.01922463768943299 1.914297 17 29 0.002956522 Mouse Phenotype Single KO increased mammary adenocarcinoma incidence 145 5.361421e-8 0.0000033858297997931037 4.125207 22 0.00393138 1043 0.046031703451581966 1.929652 13 22 0.00226087 Mouse Phenotype Single KO hemolysis 152 7.890394e-8 0.000004753443280131579 2.913251 34 0.006075768 742 0.01714766723315364 1.896135 18 31 0.003130435 Mouse Phenotype Single KO abnormal facial nerve morphology 274 0.000005650727 0.00018884564649270072 2.081219 46 0.008220157 316 0.0002989656179746836 2.332547 20 28 0.003478261 Mouse Phenotype Single KO abnormal salivary gland physiology 294 0.000009536304 0.0002970201895510204 2.003038 48 0.008577555 730 0.016150200899999998 1.698094 26 50 0.004521739 Mouse Phenotype Single KO excessive folding of visceral yolk sac 323 0.0000173218 0.0004910703486068112 3.057186 20 0.003573981 657 0.010857827033789954 2.511973 10 13 0.00173913 Mouse Phenotype sacral vertebral transformation 32 4.351864e-17 1.30025536575e-14 7.066551 32 0.00571837 551 0.00038387067958257714 2.48805 16 21 0.002782609 Mouse Phenotype abnormal sternebra number 61 6.134786e-14 9.615522778032788e-12 7.256248 25 0.004467477 942 0.00790692264076433 2.511973 10 13 0.00173913 Mouse Phenotype thoracic vertebral transformation 62 6.502512e-14 1.0027502779354838e-11 2.996709 64 0.01143674 837 0.004914802921505377 1.718719 30 57 0.005217391 Mouse Phenotype enlarged liver sinusoidal spaces 79 3.735258e-13 4.520607814936709e-11 2.849161 65 0.01161544 627 0.0008533657588516747 1.991198 25 41 0.004347826 Mouse Phenotype abnormal liver sinusoid morphology 87 9.423499e-13 1.0356100452758621e-10 2.284716 94 0.01679771 610 0.0006745633457704918 1.716515 41 78 0.007130435 Mouse Phenotype increased sternebra number 106 7.186612e-12 6.48218842754717e-10 7.66559 20 0.003573981 776 0.003103360142010309 3.265565 7 7 0.001217391 Mouse Phenotype abnormal mural trophectoderm morphology 125 4.959393e-11 3.79334051784e-9 2.008049 107 0.0191208 843 0.00498565773772242 1.546847 45 95 0.007826087 Mouse Phenotype abnormal trophoblast giant cell morphology 127 6.380437e-11 4.8034140281102364e-9 2.006309 106 0.0189421 922 0.007198973615726681 1.528562 44 94 0.007652174 Mouse Phenotype abnormal response to radiation 135 1.096689e-10 7.766995206666667e-9 2.462901 66 0.01179414 1349 0.030238615098591548 1.574469 27 56 0.004695652 Mouse Phenotype cervical vertebral transformation 162 1.571691e-9 9.275887438888889e-8 2.577574 53 0.009471051 731 0.0021775537181942545 1.898584 25 43 0.004347826 Mouse Phenotype lymphoid hyperplasia 164 1.687309e-9 9.836805700609756e-8 2.830605 45 0.008041458 746 0.0024674954465147454 2.040978 20 32 0.003478261 Mouse Phenotype large lymphoid organs 174 2.90574e-9 1.5966540310344827e-7 2.674709 48 0.008577555 867 0.005703039456401384 1.904913 21 36 0.003652174 Mouse Phenotype abnormal subarachnoid space morphology 176 4.107482e-9 2.2313429205681814e-7 5.015431 21 0.00375268 1331 0.030533251041322314 2.799056 6 7 0.001043478 Mouse Phenotype abnormal erythrocyte osmotic lysis 189 5.968686e-9 3.0193971876190476e-7 3.124946 36 0.006433167 1143 0.01602876973753281 1.824875 19 34 0.003304348 Mouse Phenotype abnormal somatic hypermutation frequency 195 8.317031e-9 4.0779042764615383e-7 3.517303 30 0.005360972 1488 0.03953584659475807 1.959339 12 20 0.002086957 Mouse Phenotype abnormal rib development 200 1.020905e-8 4.8804363525e-7 2.696477 44 0.007862759 667 0.001307607656491754 2.078087 21 33 0.003652174 Mouse Phenotype increased skin tumor incidence 212 1.548122e-8 6.981884170754717e-7 2.061069 74 0.01322373 934 0.007564472798929336 1.541053 42 89 0.007304348 Mouse Phenotype hemolysis 215 1.754599e-8 7.802660948372093e-7 2.938782 37 0.006611866 1104 0.013981750054347826 1.814203 20 36 0.003478261 Mouse Phenotype fusion of vertebral arches 224 3.388656e-8 0.000001446381250714286 2.091246 68 0.01215154 509 0.00022900961770137523 1.93515 32 54 0.005565217 Mouse Phenotype thin interventricular septum 251 1.231013e-7 0.00000468912959880478 2.266879 52 0.009292352 1454 0.035870360100412654 1.728829 18 34 0.003130435