# 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 stem cell development 84 3.451851e-22 5.407488965357143e-20 2.054182 221 0.02636602 333 0.00013943963987387385 1.808358 40 62 0.00597104 GO Biological Process artery morphogenesis 97 6.544983e-20 8.87891044298969e-18 2.083965 190 0.02266762 398 0.00039590868331658294 1.788092 37 58 0.005523212 GO Biological Process noradrenergic neuron differentiation 107 6.630453e-19 8.154217852990655e-17 3.673824 68 0.008112622 686 0.014083450441545188 2.802956 7 7 0.001044932 GO Biological Process regulation of heart morphogenesis 113 3.351737e-18 3.9031422285840707e-16 2.235372 147 0.01753758 658 0.010690055624012158 1.813677 22 34 0.003284072 GO Biological Process cell aging 136 1.015285e-16 9.823628908088234e-15 2.309341 125 0.01491291 897 0.04207903454738016 1.486416 35 66 0.00522466 GO Biological Process autonomic nervous system development 139 1.762123e-16 1.6681853638129496e-14 2.059402 159 0.01896922 422 0.0006925762558293839 1.890365 29 43 0.004329004 GO Biological Process negative regulation of DNA binding 206 1.762389e-13 1.1257901383980585e-11 2.173215 112 0.01336197 886 0.038751948011286674 1.569655 28 50 0.004179728 GO Biological Process embryonic camera-type eye morphogenesis 243 3.104853e-12 1.6813481739506175e-10 2.296154 89 0.01061799 728 0.018263643618131865 1.90601 17 25 0.002537692 GO Biological Process negative regulation of stem cell differentiation 263 1.061769e-11 5.312478430038024e-10 2.879117 56 0.006680983 808 0.028550909669554456 2.024357 13 18 0.001940588 GO Biological Process endocardial cushion morphogenesis 269 1.519568e-11 7.433455506319703e-10 2.095698 102 0.01216893 431 0.0007797620386542924 2.102217 21 28 0.003134796 GO Biological Process regulation of cell proliferation involved in heart morphogenesis 292 3.52042e-11 1.5864796842465754e-9 2.31278 79 0.009424958 784 0.026404087386479588 2.102217 12 16 0.001791312 GO Biological Process negative regulation of osteoblast differentiation 296 4.17089e-11 1.854214240202703e-9 2.091341 98 0.01169172 869 0.03540885502186421 1.640755 24 41 0.003582624 GO Biological Process positive regulation of lamellipodium organization 310 6.925018e-11 2.9395584471612903e-9 2.628204 60 0.007158196 941 0.0493032630010627 1.764824 17 27 0.002537692 GO Biological Process positive regulation of actin filament bundle assembly 365 8.399135e-10 3.0280607524657537e-8 2.020918 92 0.0109759 664 0.010736671858584337 1.630811 32 55 0.004776832 GO Biological Process regulation of vascular permeability 446 7.217895e-9 2.1296026974215247e-7 2.227494 65 0.007754712 660 0.01073965404878788 1.868637 20 30 0.00298552 GO Biological Process regulation of lamellipodium organization 489 2.156416e-8 5.80291986584867e-7 2.003332 78 0.009305655 861 0.033247459096399534 1.629625 25 43 0.0037319 GO Biological Process synaptic transmission, cholinergic 499 3.022306e-8 7.970045020841684e-7 2.272279 57 0.006800286 729 0.01848341299176955 1.836419 19 29 0.002836244 GO Biological Process cardiac chamber formation 504 3.327113e-8 8.686801580753969e-7 2.304467 55 0.00656168 583 0.005582643679245282 2.548142 10 11 0.00149276 GO Biological Process cardiac ventricle formation 509 3.599761e-8 9.30633693497053e-7 2.362676 52 0.00620377 679 0.01228273075581738 2.52266 9 10 0.001343484 GO Biological Process eyelid development in camera-type eye 542 9.45792e-8 0.000002296250355719557 2.355961 49 0.00584586 906 0.04292727237086093 2.15612 10 13 0.00149276 GO Cellular Component septin complex 24 1.853783e-16 1.33472376e-14 6.459338 33 0.003937008 99 0.03594060218181819 2.802956 6 6 0.0008956561 GO Cellular Component heterotrimeric G-protein complex 41 6.667995e-11 2.810315941463415e-9 2.457428 68 0.008112622 91 0.017466151173626373 1.742378 23 37 0.003433348 GO Cellular Component chromaffin granule 97 0.00001064399 0.00018961664659793812 2.567287 28 0.003340492 78 0.005798973046153845 2.802956 8 8 0.001194208 GO Cellular Component clathrin coat of endocytic vesicle 109 0.00005366963 0.000850835969174312 2.193869 32 0.003817705 95 0.02407951629473684 2.202322 11 14 0.001642036 GO Cellular Component sperm annulus 113 0.00008675901 0.0013267218520353983 3.914759 12 0.001431639 99 0.03594060218181819 2.802956 6 6 0.0008956561 GO Cellular Component AP-2 adaptor complex 114 0.00009320446 0.0014127833936842106 2.189106 30 0.003579098 109 0.046854989504587156 2.15612 10 13 0.00149276 GO Cellular Component chromaffin granule membrane 203 0.002199344 0.018721509517241382 2.082773 20 0.002386065 99 0.03594060218181819 2.802956 6 6 0.0008956561 Human Phenotype External ophthalmoplegia 7 1.252517e-14 1.1940065630000001e-11 3.184747 62 0.007396803 143 0.02518549792027972 1.83944 21 32 0.003134796 Human Phenotype Amblyopia 24 1.444664e-9 4.016767863333333e-7 2.53442 55 0.00656168 161 0.040468682051552796 1.949882 16 23 0.002388416 Human Phenotype Shallow orbits 135 0.00001169086 0.0005778748798518519 2.098819 42 0.005010737 180 0.04907680093333333 2.202322 11 14 0.001642036 Mouse Phenotype Single KO abnormal pharyngeal arch artery morphology 17 9.450135e-19 5.090287423235294e-16 2.255267 149 0.01777619 271 0.00038790099479704796 1.911106 30 44 0.00447828 Mouse Phenotype Single KO increased pulmonary respiratory rate 22 2.99064e-18 1.2447859309090908e-15 3.48575 70 0.008351229 496 0.008939253555443548 1.985427 17 24 0.002537692 Mouse Phenotype Single KO abnormal vascular branching morphogenesis 49 3.906137e-14 7.29969316510204e-12 2.465713 91 0.0108566 778 0.03973864937789203 1.739766 18 29 0.002686968 Mouse Phenotype Single KO acanthocytosis 134 3.348941e-9 2.2885263236567167e-7 3.880815 28 0.003340492 699 0.031084137357653793 2.293327 9 11 0.001343484 Mouse Phenotype Single KO increased circulating adrenaline level 183 4.025108e-8 0.0000020140936587978144 3.196054 31 0.003698401 624 0.023616137794871792 2.491516 8 9 0.001194208 Mouse Phenotype Single KO abnormal hindbrain size 221 1.484958e-7 0.000006152832762895928 2.835 34 0.004056311 699 0.031084137357653793 2.293327 9 11 0.001343484 Mouse Phenotype Single KO decreased trophoblast giant cell number 236 2.372833e-7 0.000009206793127542373 2.043013 63 0.007516106 821 0.04378228267965895 1.6117 23 40 0.003433348 Mouse Phenotype Single KO small limb buds 320 0.00000318632 0.00009117853825 2.111252 47 0.005607254 744 0.03637633019354839 2.15612 10 13 0.00149276 Mouse Phenotype Single KO peripheral nervous system degeneration 377 0.00001149811 0.0002792790272413793 2.420998 31 0.003698401 624 0.023616137794871792 2.491516 8 9 0.001194208 Mouse Phenotype Single KO excessive folding of visceral yolk sac 444 0.00003369092 0.0006948372847747747 2.551302 25 0.002982582 481 0.007993988657796257 2.371732 11 13 0.001642036 Mouse Phenotype Single KO decreased embryonic epiblast cell proliferation 548 0.0001409728 0.002355634908029197 3.136222 15 0.001789549 676 0.02789223554585799 2.802956 6 6 0.0008956561 Mouse Phenotype Single KO abnormal aorta tunica adventitia morphology 873 0.001616757 0.016958354924398625 2.667204 13 0.001550942 624 0.023616137794871792 2.491516 8 9 0.001194208 Mouse Phenotype abnormal sympathetic ganglion morphology 32 5.25972e-20 1.5715057162499998e-17 2.169629 174 0.02075877 622 0.003507907842926045 1.613823 38 66 0.005672488 Mouse Phenotype abnormal superior cervical ganglion morphology 59 3.037112e-16 4.9216657342372884e-14 2.202181 134 0.01598664 846 0.015414411460992908 1.579848 31 55 0.004627556 Mouse Phenotype abnormal paravertebral ganglion morphology 85 2.923607e-14 3.288541944352941e-12 2.049145 137 0.01634455 1092 0.03323638247252748 1.49491 32 60 0.004776832 Mouse Phenotype abnormal pterygopalatine ganglion morphology 93 2.452207e-13 2.5210270029032256e-11 3.96771 42 0.005010737 1174 0.047025884371379896 2.802956 5 5 0.0007463801 Mouse Phenotype increased pulmonary respiratory rate 98 4.235498e-13 4.1322037120408164e-11 2.633674 74 0.008828442 1003 0.027258677907278164 1.681773 21 35 0.003134796 Mouse Phenotype abnormal vascular branching morphogenesis 110 2.337119e-12 2.0313813417272726e-10 2.031315 119 0.01419709 407 0.00025775657292383293 1.935374 29 42 0.004329004 Mouse Phenotype clavicle hypoplasia 120 4.199883e-12 3.34625678025e-10 2.986163 55 0.00656168 740 0.00818867090918919 2.52266 9 10 0.001343484 Mouse Phenotype abnormal Mullerian duct morphology 157 8.555025e-11 5.209846753184713e-9 2.062635 98 0.01169172 838 0.014673818910501193 1.656292 26 44 0.003881176 Mouse Phenotype premature bone ossification 174 3.546531e-10 1.948757637413793e-8 2.022407 96 0.01145311 915 0.020388743681967213 1.832702 17 26 0.002537692 Mouse Phenotype abnormal pterygoid bone morphology 196 1.143437e-9 5.577755692346939e-8 2.503019 57 0.006800286 1050 0.030593488125714288 2.055501 11 15 0.001642036 Mouse Phenotype premature suture closure 200 1.608894e-9 7.691317767e-8 2.373704 62 0.007396803 484 0.0007281345484710743 2.587344 12 13 0.001791312 Mouse Phenotype acanthocytosis 211 3.348941e-9 1.5174988104739338e-7 3.880815 28 0.003340492 957 0.02370577518181818 2.293327 9 11 0.001343484 Mouse Phenotype abnormal enteric ganglia morphology 234 1.19277e-8 4.873535884615385e-7 2.424047 53 0.006323073 866 0.017367998116628175 2.102217 12 16 0.001791312 Mouse Phenotype increased circulating adrenaline level 259 4.025108e-8 0.0000014858709493436294 3.196054 31 0.003698401 872 0.017645220220183486 2.491516 8 9 0.001194208 Mouse Phenotype poor circulation 314 1.740935e-7 0.0000053009807436305735 2.075779 62 0.007396803 1084 0.03298947197047971 1.917812 13 19 0.001940588 Mouse Phenotype frontal bone foramen 320 1.941436e-7 0.00000580064674875 3.034326 30 0.003579098 930 0.021168845609677422 2.802956 6 6 0.0008956561 Mouse Phenotype abnormal parasympathetic system morphology 330 2.694557e-7 0.000007806866508181818 2.090848 59 0.007038893 866 0.017367998116628175 2.102217 12 16 0.001791312 Mouse Phenotype peripheral nervous system degeneration 367 8.273929e-7 0.000021555050454768394 2.580514 35 0.004175614 740 0.00818867090918919 2.52266 9 10 0.001343484 Mouse Phenotype abnormal hindbrain size 435 0.000004890783 0.0001074960373862069 2.179152 42 0.005010737 888 0.01887551354391892 2.024357 13 18 0.001940588 Mouse Phenotype absent Mullerian ducts 540 0.00002621498 0.00046415078477777774 2.793975 22 0.002624672 930 0.021168845609677422 2.802956 6 6 0.0008956561