# 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 mesoderm formation 272 2.324878e-42 1.1247452059558824e-40 2.136225 402 0.02183003 381 0.00009359568428083988 1.750094 44 67 0.006244678 GO Biological Process mesoderm morphogenesis 295 1.353732e-39 6.03856250440678e-38 2.060937 408 0.02215585 342 0.00003253068710350877 1.776611 46 69 0.006528527 GO Biological Process mesodermal cell differentiation 319 1.597606e-36 6.590249954231975e-35 2.70452 216 0.01172957 815 0.016650155357055215 1.844942 18 26 0.002554641 GO Biological Process regulation of adherens junction organization 345 1.42332e-34 5.428831269565217e-33 2.211662 301 0.01634537 656 0.0042881108931402435 1.636352 35 57 0.004967357 GO Biological Process regulation of focal adhesion assembly 372 3.851252e-32 1.362328630860215e-30 2.179595 288 0.01563942 803 0.01563216604271482 1.57921 32 54 0.004541584 GO Biological Process substrate adhesion-dependent cell spreading 417 1.090622e-28 3.441605491127098e-27 2.519542 190 0.01031768 982 0.04455741921588595 1.612976 23 38 0.003264263 GO Biological Process positive regulation of heart growth 451 5.43852e-27 1.586817842128603e-25 2.123995 254 0.0137931 583 0.0020894451565008575 1.881117 24 34 0.003406188 GO Biological Process negative regulation of cyclin-dependent protein serine/threonine kinase activity 452 5.822251e-27 1.6950221440044247e-25 3.306069 115 0.006244909 802 0.015617578664962594 1.887649 17 24 0.002412716 GO Biological Process platelet-derived growth factor receptor signaling pathway 473 4.656862e-26 1.2955527919238902e-24 2.346243 197 0.0106978 762 0.011133484519422572 1.776611 22 33 0.003122339 GO Biological Process negative regulation of small GTPase mediated signal transduction 482 9.315759e-26 2.5432795162033193e-24 2.031554 269 0.01460766 1021 0.04680692387365328 1.508443 30 53 0.004257735 GO Biological Process positive regulation of cardiac muscle cell proliferation 487 1.421251e-25 3.840296079876797e-24 2.290107 203 0.01102362 447 0.0003625487018568233 2.201453 19 23 0.002696565 GO Biological Process clathrin coat assembly 510 8.947084e-25 2.3085231050196077e-23 3.32997 104 0.00564757 651 0.004129567082488479 2.194637 14 17 0.001986943 GO Biological Process positive regulation of cardiac muscle tissue growth 525 2.612954e-24 6.549306987809524e-23 2.140894 223 0.01210969 681 0.00596449548825257 1.865441 21 30 0.002980414 GO Biological Process organelle transport along microtubule 532 3.568612e-24 8.826948366165413e-23 2.169705 215 0.01167526 1009 0.04664246022794846 1.453591 36 66 0.005109282 GO Biological Process retinal ganglion cell axon guidance 536 4.577612e-24 1.123820826641791e-22 2.076795 237 0.01286994 522 0.001016290745402299 2.24414 16 19 0.002270792 GO Biological Process negative regulation of cyclin-dependent protein kinase activity 538 4.878006e-24 1.1931167463568773e-22 3.002804 117 0.006353516 815 0.016650155357055215 1.844942 18 26 0.002554641 GO Biological Process lung epithelium development 615 9.109569e-22 1.9491515198536585e-20 2.063659 216 0.01172957 510 0.0009344652273921567 1.977196 23 31 0.003264263 GO Biological Process lung epithelial cell differentiation 642 3.478887e-21 7.130634584579439e-20 2.204122 180 0.00977464 492 0.0007309551691463414 2.180386 18 22 0.002554641 GO Biological Process labyrinthine layer development 650 4.857729e-21 9.834285524769232e-20 2.007482 223 0.01210969 611 0.002775011270703764 1.721092 31 48 0.004399659 GO Biological Process lung cell differentiation 745 4.81742e-19 8.509050977181209e-18 2.062561 187 0.01015477 447 0.0003625487018568233 2.201453 19 23 0.002696565 GO Cellular Component clathrin-coated pit 73 1.319307e-28 3.1229623232876713e-27 2.17831 255 0.01384741 64 0.0029738907 1.59895 42 70 0.005960829 GO Cellular Component Smc5-Smc6 complex 330 0.000007578896 0.00003968585541818182 2.476163 31 0.00168341 102 0.017715337411764707 2.664916 7 7 0.0009934715 GO Molecular Function nuclear hormone receptor binding 56 2.430441e-48 1.8323789110714284e-46 2.00105 539 0.02926962 120 0.028099960791666666 1.361636 70 137 0.009934715 GO Molecular Function cyclin-dependent protein serine/threonine kinase inhibitor activity 126 1.159904e-20 3.8865989587301587e-19 4.846628 55 0.002986696 136 0.04919309866176471 2.220764 10 12 0.001419245 GO Molecular Function HMG box domain binding 205 3.340685e-14 6.880181497560976e-13 2.144784 123 0.006679337 116 0.021843849113793105 2.072713 14 18 0.001986943 GO Molecular Function protein serine/threonine kinase inhibitor activity 227 2.512705e-13 4.673409916299559e-12 2.046382 128 0.006950855 70 0.00009452370417142857 2.099631 26 33 0.003690037 GO Molecular Function ubiquitin conjugating enzyme activity 249 7.360014e-12 1.247950968192771e-10 2.164545 98 0.005321749 115 0.021461310784347824 1.837873 20 29 0.00283849 GO Molecular Function ubiquitin-like protein conjugating enzyme activity 254 1.254086e-11 2.084547674015748e-10 2.143071 98 0.005321749 128 0.03748219034375 1.776611 20 30 0.00283849 GO Molecular Function protein phosphatase 1 binding 293 7.41041e-10 1.0678072020477815e-8 2.038162 91 0.004941624 129 0.041245928961240304 2.037877 13 17 0.001845018 Human Phenotype Hamartoma 148 1.168167e-32 5.267012426351351e-31 3.004773 162 0.008797176 191 0.01890934648062827 1.875311 19 27 0.002696565 Human Phenotype Broad nasal tip 156 6.434396e-32 2.7523541351282055e-30 2.21449 276 0.01498778 180 0.014300383581666666 1.665573 30 48 0.004257735 Human Phenotype 2-3 toe syndactyly 169 4.959069e-30 1.9580986649112425e-28 2.206062 261 0.01417323 200 0.021510689092999996 1.776611 22 33 0.003122339 Human Phenotype Thick eyebrow 181 2.760265e-28 1.0176380301104973e-26 2.037504 295 0.01601955 175 0.014234443219999999 1.639948 32 52 0.004541584 Human Phenotype Vesicoureteral reflux 217 1.534725e-26 4.719456186635945e-25 2.164022 239 0.01297855 267 0.04831576902621723 1.624949 25 41 0.003548112 Human Phenotype Limb hypertonia 387 4.756661e-19 8.201860168733849e-18 2.826475 100 0.005430356 244 0.03446544333606557 2.037877 13 17 0.001845018 Human Phenotype Tarsal synostosis 444 2.717443e-17 4.0841209772522524e-16 2.595759 104 0.00564757 257 0.04114460150583658 2.220764 10 12 0.001419245 Human Phenotype Synostosis involving bones of the feet 642 8.017561e-13 8.333517843146418e-12 2.085206 117 0.006353516 139 0.006232567597841726 2.309594 13 15 0.001845018 Mouse Phenotype Single KO abnormal truncus arteriosus septation 100 6.961359e-66 6.3745164363e-64 2.271484 552 0.02997556 183 7.601320772677596e-8 1.903512 55 77 0.007805847 Mouse Phenotype Single KO abnormal thoracic aorta morphology 119 1.164765e-59 8.962817735294117e-58 2.079199 608 0.03301656 245 0.0000025350814382857143 1.654086 72 116 0.01021856 Mouse Phenotype Single KO abnormal ventricle myocardium morphology 127 5.28862e-58 3.813219948031496e-56 2.076062 593 0.03220201 407 0.0002484377345454545 1.582294 57 96 0.008089696 Mouse Phenotype Single KO abnormal aortic arch morphology 129 9.219697e-58 6.544555459612403e-56 2.110638 568 0.03084442 248 0.0000025593851923387095 1.691197 66 104 0.009367017 Mouse Phenotype Single KO abnormal cell adhesion 135 5.120823e-57 3.473435274888889e-55 2.770768 329 0.01786587 972 0.02865118845164609 1.490546 33 59 0.004683508 Mouse Phenotype Single KO abnormal sphenoid bone morphology 138 1.971501e-56 1.308190917173913e-54 2.103665 559 0.03035569 149 9.243069654362417e-9 1.963623 56 76 0.007947772 Mouse Phenotype Single KO abnormal corpus callosum morphology 139 2.377399e-56 1.5661757297122305e-54 2.003701 628 0.03410263 485 0.0007337453122886598 1.534346 57 99 0.008089696 Mouse Phenotype Single KO brachydactyly 151 3.071663e-53 1.8627296749006623e-51 3.322657 233 0.01265273 1025 0.03256727698146342 1.742445 17 26 0.002412716 Mouse Phenotype Single KO dilated brain ventricles 155 1.773804e-52 1.0479176276129032e-50 2.450446 376 0.02041814 976 0.029400049647540984 1.446669 38 70 0.005393131 Mouse Phenotype Single KO abnormal fibroblast migration 167 4.115085e-49 2.256397206287425e-47 2.731357 289 0.01569373 422 0.0003496661207345971 1.884941 29 41 0.00411581 Mouse Phenotype Single KO persistent truncus arteriosis 170 4.712733e-49 2.5384997694705883e-47 2.224947 427 0.02318762 214 7.708208557009345e-7 1.954272 44 60 0.006244678 Mouse Phenotype Single KO small pharyngeal arch 171 5.368994e-49 2.8750805881871344e-47 2.658322 302 0.01639967 566 0.001756168611837456 1.823364 26 38 0.003690037 Mouse Phenotype Single KO abnormal metanephros morphology 174 1.158837e-48 6.098546212068965e-47 3.349475 210 0.01140375 762 0.008835458314041995 1.998687 15 20 0.002128867 Mouse Phenotype Single KO aorticopulmonary septal defect 180 2.058173e-48 1.0470383422777776e-46 2.211195 427 0.02318762 232 0.000001623244023275862 1.922235 44 61 0.006244678 Mouse Phenotype Single KO decreased fibroblast cell migration 183 5.49181e-48 2.7480056923497264e-46 2.798371 271 0.01471626 286 0.00001094778262167832 2.131933 28 35 0.003973886 Mouse Phenotype Single KO vertebral transformation 187 1.25554e-47 6.1481175294117655e-46 2.482434 332 0.01802878 336 0.000045587824717261906 1.651089 57 92 0.008089696 Mouse Phenotype Single KO abnormal liver development 190 6.262238e-47 3.018069124526316e-45 2.432184 340 0.01846321 488 0.0007413570998770491 1.776611 32 48 0.004541584 Mouse Phenotype Single KO interrupted aortic arch 204 2.65225e-45 1.190522218137255e-43 2.613206 287 0.01558512 566 0.001756168611837456 1.823364 26 38 0.003690037 Mouse Phenotype Single KO abnormal trabecula carnea morphology 211 8.308003e-45 3.605515804312796e-43 2.090579 448 0.02432799 564 0.00173021515 1.591547 43 72 0.006102753 Mouse Phenotype Single KO abnormal neural fold morphology 217 9.171141e-44 3.870052448709677e-42 2.56656 286 0.01553082 530 0.0012292901036792454 1.757711 31 47 0.004399659 Mouse Phenotype abnormal myocardial trabeculae morphology 126 5.248357e-73 3.982503275952381e-71 2.01076 808 0.04387727 354 0.0000026491321706779662 1.554534 91 156 0.01291513 Mouse Phenotype abnormal cell adhesion 137 5.150235e-71 3.59426254270073e-69 2.733843 421 0.0228618 863 0.0026725908723059097 1.542846 44 76 0.006244678 Mouse Phenotype abnormal ventricle myocardium morphology 139 2.665608e-70 1.8335164092086332e-68 2.103816 698 0.03790388 687 0.0006632446216157205 1.475615 67 121 0.009508941 Mouse Phenotype renal hypoplasia 195 9.569548e-61 4.6920229963076925e-59 2.26582 511 0.02774912 465 0.000031232497193548385 1.763548 45 68 0.006386602 Mouse Phenotype absent kidney 203 5.740769e-59 2.703817360049261e-57 2.217842 519 0.02818355 239 1.6578009920083683e-8 1.979652 52 70 0.007380074 Mouse Phenotype abnormal trabecula carnea morphology 205 8.317634e-59 3.879263349951219e-57 2.17542 540 0.02932392 865 0.0027151659395375717 1.493524 51 91 0.007238149 Mouse Phenotype abnormal neuropore morphology 223 5.748439e-56 2.4646109990582957e-54 2.182057 510 0.02769481 1123 0.010366014064113981 1.414037 52 98 0.007380074 Mouse Phenotype incomplete rostral neuropore closure 237 5.301636e-53 2.138773915443038e-51 2.157157 495 0.02688026 1202 0.014980034805324458 1.402588 50 95 0.007096225 Mouse Phenotype decreased fibroblast cell migration 240 6.127206e-53 2.44092569025e-51 2.73781 311 0.01688841 439 0.00002045131875307517 1.983193 32 43 0.004541584 Mouse Phenotype myocardium hypoplasia 241 6.20317e-53 2.4609339572614105e-51 2.042485 562 0.0305186 916 0.003785453537882096 1.448887 56 103 0.007947772 Mouse Phenotype absent corpus callosum 248 1.479148e-52 5.702473398387097e-51 2.366893 403 0.02188433 1303 0.019820840859554874 1.554534 28 48 0.003973886 Mouse Phenotype abnormal sternebra morphology 251 2.440165e-52 9.294987077689243e-51 2.358947 404 0.02193864 596 0.00023603750833892619 1.707212 41 64 0.005818904 Mouse Phenotype hydrops fetalis 252 3.030978e-52 1.1499674864285715e-50 2.099788 519 0.02818355 1080 0.009048990744444445 1.432751 50 93 0.007096225 Mouse Phenotype abnormal fibroblast migration 254 3.922698e-52 1.4765714794488188e-50 2.621077 330 0.01792017 625 0.000347782063392 1.776611 34 51 0.004825433 Mouse Phenotype abnormal metanephros morphology 256 9.449011e-52 3.528984147304687e-50 3.214736 237 0.01286994 962 0.005379191532848232 1.875311 19 27 0.002696565 Mouse Phenotype dilated brain ventricles 258 1.337939e-51 4.958153015116278e-50 2.240627 443 0.02405648 966 0.005568330359006212 1.467201 49 89 0.0069543 Mouse Phenotype interrupted aortic arch 267 1.257421e-50 4.502697446067416e-49 2.430916 368 0.01998371 503 0.00005395772209145129 1.887649 34 48 0.004825433 Mouse Phenotype ventricle myocardium hypoplasia 274 4.518864e-50 1.576819660729927e-48 2.090772 502 0.02726039 1128 0.01056492195212766 1.439667 47 87 0.006670451 Mouse Phenotype abnormal ureteric bud morphology 275 4.796888e-50 1.6677471333818178e-48 2.010297 552 0.02997556 328 0.0000011937829620731707 1.836631 51 74 0.007238149 Mouse Phenotype myocardial trabeculae hypoplasia 283 4.102332e-49 1.3859503975971732e-47 2.228655 426 0.02313332 1612 0.04358439975186104 1.385756 39 75 0.005535055