# 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 275 4.669565e-86 2.234429303090909e-84 2.03353 944 0.02078059 351 0.00006258142973789175 1.489721 56 67 0.005315615 GO Biological Process regulation of adherens junction organization 390 1.464137e-64 4.940148405897436e-63 2.052245 689 0.01516719 411 0.00019634572715328467 1.500922 48 57 0.004556241 GO Biological Process regulation of focal adhesion assembly 429 9.206833e-58 2.824072621142191e-56 2.003338 653 0.01437471 468 0.0005903096470726497 1.485287 45 54 0.004271476 GO Biological Process positive regulation of heart growth 467 1.992544e-52 5.614536722912205e-51 2.003387 591 0.01300988 663 0.005871486257013575 1.520235 29 34 0.002752729 GO Biological Process body morphogenesis 492 1.427181e-49 3.817129020121951e-48 2.001717 559 0.01230546 598 0.0030113425284280936 1.472372 38 46 0.003607024 GO Biological Process positive regulation of cardiac muscle cell proliferation 504 7.344654e-49 1.9176250394047618e-47 2.140244 468 0.01030224 352 0.00006241496879261364 1.782345 23 23 0.002183199 GO Biological Process positive regulation of cardiac muscle tissue growth 506 9.983408e-49 2.5962779816600794e-47 2.039291 524 0.01153499 877 0.02387494237286203 1.485287 25 30 0.002373042 GO Biological Process posttranscriptional gene silencing by RNA 617 1.391231e-41 2.9671326951377635e-40 2.202092 371 0.008166949 645 0.00491246891627907 1.432865 41 51 0.003891789 GO Biological Process posttranscriptional gene silencing 631 3.945162e-41 8.227319612995244e-40 2.185609 373 0.008210976 611 0.003566269909328969 1.439586 42 52 0.003986711 GO Biological Process platelet-derived growth factor receptor signaling pathway 660 1.759253e-39 3.507577307121212e-38 2.037403 422 0.00928963 558 0.002223748371326165 1.566303 29 33 0.002752729 GO Biological Process gene silencing by miRNA 664 2.087177e-39 4.136319599849398e-38 2.277428 326 0.007176349 668 0.005929534045958084 1.458282 36 44 0.003417181 GO Biological Process cardiac muscle hypertrophy 752 4.265968e-36 7.464876717021277e-35 2.01102 397 0.008739296 1011 0.04649746316617211 1.464069 23 28 0.002183199 GO Biological Process face morphogenesis 793 5.087729e-34 8.442550556242119e-33 2.013176 372 0.008188963 951 0.036146306276551 1.448155 26 32 0.002467964 GO Biological Process dendrite extension 842 1.221405e-32 1.9088442274346793e-31 2.575263 210 0.004622801 977 0.04155248542886387 1.782345 10 10 0.0009492169 GO Biological Process heterochromatin assembly 968 1.260284e-28 1.713231111157025e-27 3.403743 118 0.002597574 977 0.04155248542886387 1.782345 10 10 0.0009492169 GO Biological Process positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway 1029 5.852045e-27 7.483679315354713e-26 2.093066 264 0.005811522 731 0.010262763504514365 1.536504 25 29 0.002373042 GO Biological Process positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway 1038 9.544972e-27 1.2100412962235067e-25 2.019207 286 0.006295815 851 0.020085241969447706 1.445144 30 37 0.002847651 GO Biological Process negative regulation of potassium ion transmembrane transporter activity 1151 4.556449e-24 5.2092365239791483e-23 2.225691 203 0.004468708 846 0.020196809615839244 1.670948 15 16 0.001423825 GO Biological Process coronary vasculature morphogenesis 1247 2.187848e-22 2.3087323040898156e-21 2.051269 227 0.004997028 928 0.03093395882866379 1.663522 14 15 0.001328904 GO Biological Process endoplasmic reticulum tubular network organization 1294 2.047983e-21 2.082643608732612e-20 2.854963 112 0.002465494 801 0.01594026061198502 1.782345 12 12 0.00113906 GO Cellular Component cytoplasmic stress granule 89 4.004575e-45 7.775174831460674e-44 2.376103 344 0.007572589 106 0.023345573433962263 1.409296 34 43 0.003227337 Human Phenotype Limb hypertonia 345 7.38949e-38 1.4292772976811594e-36 2.658219 232 0.005107095 141 0.036452426725531915 1.677501 16 17 0.001518747 Human Phenotype Tarsal synostosis 357 6.420869e-37 1.2001809198039217e-35 2.519347 249 0.005481322 157 0.041240746620382164 1.782345 12 12 0.00113906 Human Phenotype Synostosis involving bones of the feet 529 2.456318e-26 3.0984896056710775e-25 2.022921 280 0.006163735 89 0.01282787528988764 1.782345 15 15 0.001423825 Mouse Phenotype Single KO abnormal truncus arteriosus septation 101 1.901904e-126 1.7243301908910891e-124 2.113513 1267 0.0278909 407 0.0011845195966339068 1.38884 60 77 0.005695301 Mouse Phenotype Single KO brachydactyly 147 2.211314e-97 1.3774831495238094e-95 2.965546 513 0.01129284 795 0.0241133181509434 1.508138 22 26 0.002088277 Mouse Phenotype Single KO abnormal cell adhesion 170 2.272464e-87 1.224056049882353e-85 2.355652 690 0.0151892 573 0.006129636671029668 1.389625 46 59 0.004366398 Mouse Phenotype Single KO interrupted aortic arch 181 5.111527e-85 2.5859808143093926e-83 2.395488 649 0.01428666 864 0.030296146467592593 1.407114 30 38 0.002847651 Mouse Phenotype Single KO interrupted aorta 196 1.056437e-80 4.935608984183673e-79 2.284636 678 0.01492504 734 0.01719437585558583 1.425876 32 40 0.003037494 Mouse Phenotype Single KO abnormal fibroblast migration 215 1.464058e-76 6.2355251655813955e-75 2.340882 611 0.01345015 535 0.004609154555140187 1.478042 34 41 0.003227337 Mouse Phenotype Single KO abnormal liver development 235 1.691887e-72 6.5925996846808515e-71 2.108189 727 0.0160037 791 0.023948657498103668 1.373891 37 48 0.003512103 Mouse Phenotype Single KO abnormal intramembranous bone ossification 241 1.513617e-71 5.751116543153527e-70 2.006914 809 0.01780879 507 0.0036734488504930963 1.465483 37 45 0.003512103 Mouse Phenotype Single KO decreased fibroblast cell migration 252 2.260482e-69 8.213981616666666e-68 2.331572 557 0.01226143 501 0.0035090958253493013 1.527724 30 35 0.002847651 Mouse Phenotype Single KO abnormal metanephros morphology 256 3.967256e-69 1.4190688746875e-67 2.709125 419 0.009223589 710 0.016302490838028167 1.60411 18 20 0.00170859 Mouse Phenotype Single KO small pharyngeal arch 271 1.285629e-65 4.344097694833949e-64 2.176648 610 0.01342814 518 0.0041130521648648655 1.500922 32 38 0.003037494 Mouse Phenotype Single KO decreased cell migration 294 4.647931e-62 1.4476566043197278e-60 2.141384 598 0.01316398 865 0.030520175138728324 1.3652 36 47 0.003417181 Mouse Phenotype Single KO abnormal placental labyrinth vasculature morphology 295 5.660004e-62 1.7569036145084744e-60 2.066072 650 0.01430867 834 0.027989677074340528 1.289855 55 76 0.005220693 Mouse Phenotype Single KO abnormal metacarpal bone morphology 332 1.63728e-57 4.515835228915663e-56 2.128257 561 0.01234948 317 0.0002694804575205047 1.625079 31 34 0.002942572 Mouse Phenotype Single KO abnormal metatarsal bone morphology 334 7.021689e-57 1.9250780291317364e-55 2.191139 519 0.01142492 545 0.004970446482935781 1.520235 29 34 0.002752729 Mouse Phenotype Single KO abnormal facial nerve morphology 381 2.809613e-51 6.7526578060367445e-50 2.312979 415 0.009135536 489 0.0031733967382413086 1.591379 25 28 0.002373042 Mouse Phenotype Single KO decreased corpus callosum size 382 5.962396e-51 1.429258119685864e-49 2.149288 484 0.01065446 687 0.014032975874818051 1.49487 26 31 0.002467964 Mouse Phenotype Single KO abnormal fourth pharyngeal arch morphology 392 4.502344e-50 1.0517337757142857e-48 2.326655 400 0.008805336 441 0.001926380930589569 1.697471 20 21 0.001898434 Mouse Phenotype Single KO abnormal carotid artery morphology 399 1.298478e-49 2.9799907383458647e-48 2.161073 465 0.0102362 734 0.01719437585558583 1.425876 32 40 0.003037494 Mouse Phenotype Single KO pale kidney 422 1.979215e-47 4.2947089466824644e-46 2.367315 365 0.008034869 687 0.014032975874818051 1.49487 26 31 0.002467964 Mouse Phenotype abnormal cell adhesion 157 6.07823e-127 3.701525925477707e-125 2.450749 931 0.02049442 528 0.00046458166556818183 1.407114 60 76 0.005695301 Mouse Phenotype absent corpus callosum 221 1.175702e-98 5.08637412760181e-97 2.183235 917 0.02018623 1347 0.03780350549443207 1.336758 36 48 0.003417181 Mouse Phenotype interrupted aortic arch 224 2.775241e-98 1.1845571071875e-96 2.26275 845 0.01860127 722 0.0029640556662049863 1.448155 39 48 0.003701946 Mouse Phenotype interrupted aorta 250 1.280067e-94 4.8954882348e-93 2.188949 874 0.01923966 647 0.0015260346088098917 1.461523 41 50 0.003891789 Mouse Phenotype brachydactyly 292 3.510252e-84 1.1493671017808219e-82 2.415634 632 0.01391243 831 0.00611547562238267 1.485287 30 36 0.002847651 Mouse Phenotype abnormal fibroblast migration 299 9.599377e-83 3.0695532942140472e-81 2.269931 705 0.0155194 883 0.008022403383805209 1.397917 40 51 0.003796868 Mouse Phenotype abnormal sternebra morphology 303 1.558964e-81 4.919226007920791e-80 2.056905 869 0.01912959 709 0.0026451713424541605 1.392457 50 64 0.004746084 Mouse Phenotype decreased fibroblast cell migration 327 2.665792e-77 7.794384499082569e-76 2.294624 643 0.01415458 1026 0.013345124520467837 1.409296 34 43 0.003227337 Mouse Phenotype abnormal metanephros morphology 331 2.226857e-76 6.432320174320241e-75 2.650341 482 0.01061043 564 0.0006648387138297872 1.650319 25 27 0.002373042 Mouse Phenotype delayed intramembranous bone ossification 339 5.31079e-75 1.4978307725663717e-73 2.477725 535 0.01177714 1381 0.03871482905648081 1.425876 24 30 0.002278121 Mouse Phenotype thin myocardium compact layer 381 1.034924e-66 2.5970888094488193e-65 2.171091 624 0.01373632 765 0.004357528858823529 1.425876 40 50 0.003796868 Mouse Phenotype abnormal metacarpal bone morphology 391 2.772122e-65 6.778582721739131e-64 2.050912 698 0.01536531 282 0.0000020736666426595745 1.660821 41 44 0.003891789 Mouse Phenotype abnormal neural fold morphology 406 1.910079e-63 4.498094906157635e-62 2.017714 706 0.01554142 1294 0.03286369132998455 1.307053 44 60 0.004176554 Mouse Phenotype pale kidney 416 2.549903e-62 5.860486197836538e-61 2.311594 508 0.01118278 1112 0.01779091448471223 1.386268 35 45 0.003322259 Mouse Phenotype abnormal liver sinusoid morphology 417 3.266105e-62 7.488544341726618e-61 2.033002 679 0.01494706 1428 0.04234694781722689 1.256781 55 78 0.005220693 Mouse Phenotype absent second pharyngeal arch 466 4.203517e-57 8.624426188197426e-56 2.91595 305 0.006714069 1336 0.03764408303218563 1.572657 15 17 0.001423825 Mouse Phenotype abnormal metatarsal bone morphology 497 7.134973e-54 1.3725850473440645e-52 2.045302 577 0.0127017 516 0.00038638243017441855 1.559551 35 40 0.003322259 Mouse Phenotype cervical vertebral fusion 504 1.268511e-53 2.406395569642857e-52 2.070921 557 0.01226143 722 0.0029640556662049863 1.448155 39 48 0.003701946 Mouse Phenotype fused phalanges 525 1.038736e-51 1.891686646857143e-50 2.492422 361 0.007946816 1456 0.04788976194230769 1.472372 19 23 0.001803512 Mouse Phenotype abnormal fourth pharyngeal arch morphology 526 1.136409e-51 2.065628602471483e-50 2.097344 520 0.01144694 567 0.0006797918214814815 1.60986 28 31 0.002657807