# 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 regulation of transforming growth factor beta receptor signaling pathway 92 1.766806e-11 2.527108712391304e-9 2.232696 87 0.02528335 582 0.017998075285223368 1.670552 35 100 0.008896797 GO Biological Process regulation of cellular response to transforming growth factor beta stimulus 94 2.382098e-11 3.3346837853191487e-9 2.219185 87 0.02528335 635 0.02468182859055118 1.637796 35 102 0.008896797 GO Biological Process mesoderm morphogenesis 111 4.699179e-10 5.570855537027027e-8 2.162627 80 0.02324906 464 0.00466149350625 1.936871 28 69 0.007117438 GO Biological Process mesoderm formation 114 1.292142e-9 1.4915172436842107e-7 2.161332 76 0.0220866 494 0.00651832130506073 1.92345 27 67 0.006863244 GO Biological Process negative regulation of DNA binding 118 3.791517e-9 4.2281840849999997e-7 2.505091 53 0.0154025 480 0.005590146067916667 2.100122 22 50 0.005592272 GO Biological Process positive regulation of epithelial to mesenchymal transition 123 6.987378e-9 7.475358300975609e-7 2.222755 65 0.01888986 354 0.0006693671052542372 2.386502 22 44 0.005592272 GO Biological Process cytoskeleton-dependent intracellular transport 125 7.33127e-9 7.717774554399999e-7 2.029144 80 0.02324906 402 0.001789574899253731 1.665747 52 149 0.0132181 GO Biological Process negative regulation of transforming growth factor beta receptor signaling pathway 127 8.98268e-9 9.307329615748033e-7 2.39312 55 0.01598373 567 0.014671918311816579 1.852211 26 67 0.006609049 GO Biological Process negative regulation of cellular response to transforming growth factor beta stimulus 130 1.257823e-8 0.000001273207142846154 2.36867 55 0.01598373 618 0.022557102438511323 1.798523 26 69 0.006609049 GO Biological Process vesicle cytoskeletal trafficking 145 5.712549e-8 0.000005184236709724137 2.896549 35 0.01017146 410 0.002157132082463415 2.278025 21 44 0.005338078 GO Biological Process vesicle transport along microtubule 154 1.044073e-7 0.000008921400394155844 3.121309 30 0.008718396 558 0.013545428891935484 2.193002 17 37 0.004321301 GO Biological Process regulation of extrinsic apoptotic signaling pathway in absence of ligand 163 1.482879e-7 0.000011971291264417176 2.443307 44 0.01278698 458 0.004303156769213974 2.17898 21 46 0.005338078 GO Biological Process mammary gland epithelium development 172 2.304728e-7 0.000017632509158139536 2.026313 64 0.01859924 576 0.017114152197569444 1.944557 22 54 0.005592272 GO Biological Process thymic T cell selection 189 5.133945e-7 0.000035744752515873015 3.177509 26 0.007555943 729 0.041090123722908094 2.512108 10 19 0.002541942 GO Biological Process organelle transport along microtubule 213 0.00000178986 0.00011057637436619719 2.26829 42 0.01220575 406 0.002103131989187192 2.024911 28 66 0.007117438 GO Biological Process regulation of lymphangiogenesis 230 0.000002991704 0.00017116449102608697 4.409387 15 0.004359198 536 0.009890672655597014 4.773005 5 5 0.001270971 GO Biological Process positive regulation of heart growth 271 0.000007175952 0.0003484441046789668 2.058565 46 0.01336821 249 0.000014724075441767067 2.948032 21 34 0.005338078 GO Biological Process regulation of cell aging 276 0.00000763619 0.0003640747253985508 2.513901 30 0.008718396 689 0.03506432320174166 2.064002 16 37 0.004067107 GO Biological Process cranial nerve morphogenesis 286 0.000009176976 0.000422237157986014 2.369035 33 0.009590235 564 0.014206225417553193 2.386502 14 28 0.003558719 GO Biological Process positive regulation of cardiac muscle cell proliferation 293 0.000009839453 0.0004419022594778157 2.233822 37 0.01075269 222 0.0000045128120695045045 3.527873 17 23 0.004321301 GO Cellular Component transcriptional repressor complex 25 7.893682e-10 5.4561129983999994e-8 2.256557 71 0.02063354 41 0.0030470810224390247 1.897701 33 83 0.008388409 GO Cellular Component stress fiber 48 0.000001961956 0.000070630416 2.259733 42 0.01220575 65 0.029814141046153844 1.92756 21 52 0.005338078 GO Cellular Component actin filament bundle 55 0.000005713154 0.0001794969111272727 2.096971 45 0.01307759 62 0.025002819406451614 1.892743 23 58 0.005846467 GO Molecular Function death domain binding 51 0.000006148334 0.000508985610745098 3.919925 16 0.004649811 51 0.009119669011764706 3.818404 8 10 0.002033554 Human Phenotype Vertebral segmentation defect 21 0.000001405787 0.00044670555480952383 2.048687 54 0.01569311 65 0.041622960693846155 1.924599 25 62 0.006354855 Human Phenotype Hamartoma 29 0.000002468778 0.0005680743308275861 2.77934 28 0.008137169 26 0.02135809914192308 2.651669 15 27 0.003812913 Human Phenotype Supernumerary ribs 157 0.000178339 0.007579975458598726 2.497839 21 0.006102877 8 0.004555692967375 3.579753 12 16 0.00305033 Human Phenotype Supernumerary bones of the axial skeleton 164 0.0001939425 0.007891331112804878 2.481983 21 0.006102877 13 0.007703506256923077 3.36918 12 17 0.00305033 Human Phenotype Intussusception 186 0.0002969141 0.010652192415591398 3.961327 10 0.002906132 64 0.042005763434375 4.773005 5 5 0.001270971 Mouse Phenotype Single KO abnormal vibrissa number 1 1.281123e-13 1.1731243311000001e-9 5.428479 31 0.009009009 448 0.032531223607142855 3.579753 6 8 0.001525165 Mouse Phenotype Single KO small basisphenoid bone 3 6.154187e-13 1.8784630119666667e-9 4.403391 36 0.01046207 290 0.007595608354137931 3.304388 9 13 0.002287748 Mouse Phenotype Single KO abnormal circulating iron level 8 1.938484e-11 2.2188372485e-8 2.793442 57 0.01656495 444 0.031019275628378376 1.741502 27 74 0.006863244 Mouse Phenotype Single KO abnormal sternebra morphology 11 7.347365e-11 6.116347391363636e-8 2.482176 66 0.01918047 421 0.02715955324703088 1.948165 20 49 0.005083884 Mouse Phenotype Single KO increased circulating iron level 31 9.322395e-9 0.000002753715194032258 3.065395 36 0.01046207 517 0.04537116382011605 2.009686 16 38 0.004067107 Mouse Phenotype Single KO abnormal metacarpal bone morphology 34 1.039346e-8 0.0000027992033300000002 2.504151 50 0.01453066 165 0.0004659561093818182 2.667267 19 34 0.00482969 Mouse Phenotype Single KO abnormal eye distance/ position 47 2.264189e-8 0.000004411314611276595 2.214514 61 0.0177274 161 0.00042363626295652176 2.227402 28 60 0.007117438 Mouse Phenotype Single KO abnormal pharyngeal arch artery morphology 49 3.041668e-8 0.000005684194668571428 2.212208 60 0.01743679 58 0.0000010595946767931036 2.928889 27 44 0.006863244 Mouse Phenotype Single KO absent corpus callosum 53 3.470269e-8 0.0000059957081571698105 2.406917 50 0.01453066 293 0.007825406561433447 2.386502 16 32 0.004067107 Mouse Phenotype Single KO decreased molar number 74 1.167303e-7 0.000014444585906756757 4.281662 20 0.005812264 448 0.032531223607142855 3.579753 6 8 0.001525165 Mouse Phenotype Single KO exophthalmos 77 1.313501e-7 0.000015620426827272727 3.523662 25 0.00726533 405 0.02521672747901234 2.863803 9 15 0.002287748 Mouse Phenotype Single KO abnormal major salivary gland morphology 84 1.673252e-7 0.000018240438766666668 2.432289 44 0.01278698 275 0.005360171488363636 2.386502 17 34 0.004321301 Mouse Phenotype Single KO abnormal stratification in cerebral cortex 91 2.856351e-7 0.0000287424242934066 2.472619 41 0.01191514 293 0.007825406561433447 2.386502 16 32 0.004067107 Mouse Phenotype Single KO abnormal tarsal bone morphology 99 3.488837e-7 0.00003226998021111111 2.224381 50 0.01453066 293 0.007825406561433447 2.386502 16 32 0.004067107 Mouse Phenotype Single KO abnormal basisphenoid bone morphology 104 4.192581e-7 0.00003691486943942308 2.056517 59 0.01714618 211 0.001897674112985782 2.331002 21 43 0.005338078 Mouse Phenotype Single KO abnormal optic vesicle formation 105 4.318797e-7 0.00003766402298 2.463782 40 0.01162453 441 0.03087358339229025 2.298113 13 27 0.003304525 Mouse Phenotype Single KO abnormal carpal bone morphology 123 8.972456e-7 0.00006679738178211382 2.280863 44 0.01278698 364 0.015352007347802196 2.309518 15 31 0.003812913 Mouse Phenotype Single KO abnormal fibula morphology 125 9.198504e-7 0.0000673845609024 2.188371 48 0.01394943 247 0.0037543922437246963 2.227402 21 45 0.005338078 Mouse Phenotype Single KO increased anti-histone antibody level 134 0.00000127024 0.00008680289313432835 4.736327 15 0.004359198 412 0.025719390364077672 3.341103 7 10 0.001779359 Mouse Phenotype Single KO abnormal otic vesicle morphology 151 0.000001996934 0.00012109883866225165 2.233339 43 0.01249637 268 0.004940061411567164 2.556967 15 28 0.003812913 Mouse Phenotype small basisphenoid bone 5 4.092074e-14 7.8248639028e-11 4.374596 40 0.01162453 424 0.002645217516509434 3.088415 11 17 0.002796136 Mouse Phenotype abnormal vibrissa number 6 1.281123e-13 2.0414695005000002e-10 5.428479 31 0.009009009 730 0.02084518033972603 3.579753 6 8 0.001525165 Mouse Phenotype abnormal vertebral arch morphology 13 9.560183e-12 7.031146897153846e-9 2.023277 112 0.03254868 244 0.00009683408229098361 1.844115 51 132 0.0129639 Mouse Phenotype abnormal sternum manubrium morphology 22 1.241833e-10 5.396893324090909e-8 5.80238 22 0.00639349 730 0.02084518033972603 3.579753 6 8 0.001525165 Mouse Phenotype abnormal circulating iron level 23 1.26577e-10 5.2617508565217393e-8 2.578474 60 0.01743679 642 0.011986992056074766 1.746221 30 82 0.007625826 Mouse Phenotype abnormal sternebra morphology 38 1.565608e-9 3.9391521284210525e-7 2.218616 71 0.02063354 928 0.041798229630387936 1.715299 23 64 0.005846467 Mouse Phenotype abnormal dorsal-ventral polarity of the somites 39 1.574802e-9 3.8606876723076925e-7 4.144333 27 0.007846556 780 0.025454716092307695 2.684815 9 16 0.002287748 Mouse Phenotype abnormal tarsal bone morphology 42 3.775093e-9 8.593729565e-7 2.259999 65 0.01888986 278 0.0002497627596258993 2.439536 23 45 0.005846467 Mouse Phenotype abnormal major salivary gland morphology 56 1.983829e-8 0.0000033870337623214285 2.451841 50 0.01453066 292 0.00034485086301369865 2.505827 21 40 0.005338078 Mouse Phenotype fusion of vertebral arches 61 2.769567e-8 0.000004340955751967213 2.450672 49 0.01424005 635 0.011279363146771653 1.944557 22 54 0.005592272 Mouse Phenotype abnormal mammary gland bud morphology 66 3.021244e-8 0.000004376683921818182 3.947435 24 0.006974717 770 0.0247794672038961 3.977504 5 6 0.001270971 Mouse Phenotype increased circulating iron level 68 3.091695e-8 0.000004347014102205882 2.86869 37 0.01075269 935 0.0429601089657754 1.887002 17 43 0.004321301 Mouse Phenotype enophthalmos 73 4.172653e-8 0.000005465032237397261 4.182746 22 0.00639349 738 0.022152901776422766 2.937234 8 13 0.002033554 Mouse Phenotype cervical vertebral fusion 76 4.830056e-8 0.000006076337554736842 2.405103 49 0.01424005 405 0.002300918626074074 2.187627 22 48 0.005592272 Mouse Phenotype abnormal palatine bone horizontal plate morphology 85 6.488988e-8 0.000007298966384470588 2.519197 44 0.01278698 872 0.036192694028669724 2.139623 13 29 0.003304525 Mouse Phenotype abnormal metacarpal bone morphology 87 6.73644e-8 0.000007403115268965517 2.211037 57 0.01656495 214 0.00004456462966401869 2.603457 24 44 0.006100661 Mouse Phenotype exophthalmos 96 8.414176e-8 0.00000837999341 3.31242 28 0.008137169 651 0.012460416575576038 2.625153 11 20 0.002796136 Mouse Phenotype absent teeth 122 1.948998e-7 0.000015274073670491802 3.098875 29 0.008427783 699 0.018137299068669527 2.651669 10 18 0.002541942 Mouse Phenotype increased embryo size 126 2.096774e-7 0.000015910520804761908 3.664577 23 0.006684103 908 0.041341469167400884 3.182003 6 9 0.001525165 Mouse Phenotype abnormal carpal bone morphology 153 5.253172e-7 0.000032827174831372553 2.136353 53 0.0154025 638 0.011724171754231976 2.095465 18 41 0.004575496