# 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 mammary gland epithelial cell differentiation 201 1.980971e-24 1.2968953924875621e-22 2.852071 129 0.008328491 809 0.01562134981656366 1.791129 15 17 0.001621622 GO Biological Process cellular response to vascular endothelial growth factor stimulus 380 1.527103e-15 5.2881969413157894e-14 2.144848 136 0.008780425 983 0.042750324676500515 1.539959 22 29 0.002378378 GO Biological Process heterochromatin organization 419 2.616392e-14 8.216969529355609e-13 3.460723 54 0.003486345 848 0.02239925600707547 1.873796 12 13 0.001297297 GO Biological Process negative regulation of substrate adhesion-dependent cell spreading 458 2.384169e-13 6.85006110720524e-12 2.712344 72 0.00464846 848 0.02239925600707547 1.873796 12 13 0.001297297 GO Biological Process histone ubiquitination 472 5.243073e-13 1.4617287628601694e-11 2.190702 106 0.006843566 1006 0.04693090639363817 1.457397 28 39 0.003027027 GO Biological Process gene silencing by miRNA 490 8.692087e-13 2.334268833326531e-11 2.171819 106 0.006843566 1005 0.04654563508756218 1.430189 31 44 0.003351351 GO Biological Process response to laminar fluid shear stress 506 1.985902e-12 5.164522612252965e-11 2.496125 77 0.00497127 773 0.012963601617464425 1.88495 13 14 0.001405405 GO Biological Process parasympathetic nervous system development 531 7.026082e-12 1.7411716203013183e-10 2.110939 104 0.006714443 738 0.009416976239837399 1.804396 16 18 0.00172973 GO Biological Process preganglionic parasympathetic fiber development 556 1.568376e-11 3.7119172273381295e-10 2.183003 93 0.006004261 873 0.026153173350515462 1.776203 14 16 0.001513514 GO Biological Process negative regulation of cardiac muscle hypertrophy 685 7.404082e-10 1.422340365518248e-8 2.11683 83 0.005358642 563 0.0013243621952930729 1.917171 17 18 0.001837838 GO Biological Process negative regulation of muscle hypertrophy 775 5.545169e-9 9.415339209161292e-8 2.002962 85 0.005487766 492 0.00040580858227642273 1.928449 19 20 0.002054054 GO Biological Process coronary vasculature morphogenesis 885 2.722398e-8 4.047913591186441e-7 2.014193 76 0.004906708 968 0.04230210679752066 1.759286 13 15 0.001405405 GO Biological Process peptidyl-lysine monomethylation 1260 0.00000190785 0.000019924919166666666 2.413875 37 0.002388792 869 0.025821698245109322 2.029946 9 9 0.000972973 GO Biological Process branching involved in labyrinthine layer morphogenesis 1340 0.000003824955 0.000037561628988805974 2.079151 48 0.003098973 652 0.004107602032515337 2.029946 12 12 0.001297297 GO Biological Process hepatocyte apoptotic process 1372 0.00000492828 0.000047267665102040825 2.31206 37 0.002388792 652 0.004107602032515337 2.029946 12 12 0.001297297 GO Biological Process endoplasmic reticulum tubular network organization 1473 0.00001068416 0.00009544661333333335 2.392341 32 0.002065982 652 0.004107602032515337 2.029946 12 12 0.001297297 GO Cellular Component Seh1-associated complex 221 0.0001329578 0.0010395976398190046 2.176949 29 0.001872296 123 0.04371727609756097 1.759286 13 15 0.001405405 GO Molecular Function death domain binding 87 1.290368e-12 6.261992754022989e-11 3.047945 56 0.003615469 130 0.027268270906153847 2.029946 10 10 0.001081081 Human Phenotype Synostosis involving bones of the feet 209 3.056103e-11 9.757595846411484e-10 2.097716 99 0.006391633 227 0.011756750088986783 1.894616 14 15 0.001513514 Human Phenotype Mesomelia 244 1.973599e-10 5.397469724180328e-9 2.344469 71 0.004583898 310 0.03107176973548387 1.873796 12 13 0.001297297 Human Phenotype Hamartoma 263 7.412125e-10 1.8806505750950574e-8 2.02877 92 0.005939699 134 0.000882980821716418 1.804396 24 27 0.002594595 Human Phenotype Spinal canal stenosis 412 1.814361e-7 0.000002938648289563107 2.167255 56 0.003615469 230 0.011993699142173913 2.029946 11 11 0.001189189 Mouse Phenotype Single KO abnormal pharyngeal arch artery morphology 95 7.848264e-30 7.56490036294737e-28 2.178801 266 0.01717348 212 0.0000017655892457075473 1.79927 39 44 0.004216216 Mouse Phenotype Single KO absent corpus callosum 163 2.726967e-22 1.5319531790797545e-20 2.149555 201 0.01297695 347 0.00017463122059942365 1.776203 28 32 0.003027027 Mouse Phenotype Single KO abnormal thymus involution 167 5.273794e-22 2.891744410658683e-20 3.724401 79 0.005100394 789 0.016752621244613436 1.873796 12 13 0.001297297 Mouse Phenotype Single KO abnormal metacarpal bone morphology 169 9.223544e-22 4.997632686863905e-20 2.158507 194 0.01252502 300 0.0000624754639 1.791129 30 34 0.003243243 Mouse Phenotype Single KO small pharyngeal arch 175 2.825635e-21 1.478533696857143e-19 2.103513 201 0.01297695 1047 0.04657450482043936 1.44233 27 38 0.002918919 Mouse Phenotype Single KO abnormal metatarsal bone morphology 186 2.707643e-20 1.333004674784946e-18 2.179244 176 0.0113629 601 0.0045519827906821955 1.612016 27 34 0.002918919 Mouse Phenotype Single KO iris synechia 195 1.006194e-19 4.724983824615385e-18 2.507215 128 0.008263929 739 0.012826007925575101 1.725454 17 20 0.001837838 Mouse Phenotype Single KO malocclusion 209 4.826381e-19 2.1146014744976078e-17 2.084737 182 0.01175027 549 0.00277116506302368 1.602589 30 38 0.003243243 Mouse Phenotype Single KO brachydactyly 228 2.67974e-18 1.0762447008771928e-16 2.322729 137 0.008844987 730 0.012143248226027399 1.639572 21 26 0.00227027 Mouse Phenotype Single KO abnormal fourth pharyngeal arch artery morphology 234 7.224515e-18 2.827131788675214e-16 2.439425 121 0.007811996 823 0.019304969872417983 1.776203 14 16 0.001513514 Mouse Phenotype Single KO interrupted aortic arch 238 1.174175e-17 4.517613644957983e-16 2.002681 185 0.01194396 360 0.00020505415085833335 1.709428 32 38 0.003459459 Mouse Phenotype Single KO short nasal bone 244 2.013425e-17 7.556119969262295e-16 2.106643 161 0.01039447 400 0.000481944585175 1.759286 26 30 0.002810811 Mouse Phenotype Single KO abnormal pulmonary valve cusp morphology 246 2.271086e-17 8.453794513008129e-16 2.487358 113 0.0072955 540 0.002662842034074074 1.826951 18 20 0.001945946 Mouse Phenotype Single KO abnormal fourth ventricle morphology 248 2.778808e-17 1.026030034516129e-15 2.328358 128 0.008263929 611 0.0049936238276595745 1.753135 19 22 0.002054054 Mouse Phenotype Single KO abnormal metanephros morphology 258 4.212037e-17 1.494946620503876e-15 2.351405 124 0.008005681 739 0.012826007925575101 1.725454 17 20 0.001837838 Mouse Phenotype Single KO abnormal fourth pharyngeal arch morphology 260 4.886241e-17 1.7208964937307692e-15 2.268894 133 0.008586739 672 0.008029472154613096 1.739954 18 21 0.001945946 Mouse Phenotype Single KO thoracic vertebral transformation 300 4.148389e-16 1.2662266024333333e-14 2.341794 117 0.007553748 592 0.0037645509753378376 1.522459 36 48 0.003891892 Mouse Phenotype Single KO abnormal Mullerian duct morphology 335 4.280823e-15 1.1701342152537314e-13 2.178779 127 0.008199367 560 0.0029759563225000003 1.623957 28 35 0.003027027 Mouse Phenotype Single KO brachyphalangia 378 2.32556e-14 5.633638338624338e-13 2.307865 106 0.006843566 727 0.01209659097221458 1.791129 15 17 0.001621622 Mouse Phenotype Single KO abnormal roof plate morphology 387 3.210144e-14 7.595681810852714e-13 3.267382 58 0.003744593 952 0.033309886024159664 2.029946 8 8 0.0008648649 Mouse Phenotype enlarged liver sinusoidal spaces 106 3.322032e-36 2.9964101841509435e-34 2.94558 186 0.01200852 1423 0.029233237901616305 1.435815 29 41 0.003135135 Mouse Phenotype cervical vertebral fusion 186 1.999742e-26 1.0279318958064515e-24 2.289909 210 0.01355801 1236 0.015365501665048544 1.437878 34 48 0.003675676 Mouse Phenotype abnormal metacarpal bone morphology 233 1.425135e-22 5.847946667381974e-21 2.025118 235 0.01517206 323 0.0000012099658624458204 1.79927 39 44 0.004216216 Mouse Phenotype thoracic vertebral transformation 235 1.722526e-22 7.008115355744682e-21 2.50369 148 0.009555168 800 0.0017723201797500002 1.49575 42 57 0.004540541 Mouse Phenotype abnormal rib development 239 3.230366e-22 1.2922815617573222e-20 2.745491 124 0.008005681 943 0.004939411322799576 1.599351 26 33 0.002810811 Mouse Phenotype absent second pharyngeal arch 260 3.72711e-21 1.3705730273076922e-19 2.944152 105 0.006779004 1503 0.034034411928143715 1.67172 14 17 0.001513514 Mouse Phenotype abnormal fourth ventricle morphology 265 8.655309e-21 3.1227701641132074e-19 2.355959 153 0.009877978 652 0.0005469418441564418 1.749953 25 29 0.002702703 Mouse Phenotype abnormal fourth pharyngeal arch artery morphology 279 3.291808e-20 1.128063666236559e-18 2.220845 168 0.01084641 971 0.005697191153141092 1.65403 22 27 0.002378378 Mouse Phenotype abnormal lacrimal gland development 288 8.176045e-20 2.714276605729167e-18 3.882427 67 0.00432565 1365 0.024256467131868135 2.029946 8 8 0.0008648649 Mouse Phenotype abnormal third pharyngeal arch morphology 312 3.236724e-19 9.91869171923077e-18 2.359463 140 0.009038673 1154 0.01194091020103986 1.594958 22 28 0.002378378 Mouse Phenotype abnormal metanephros morphology 328 9.029123e-19 2.6319342988719514e-17 2.306117 143 0.009232358 1266 0.0176055317535545 1.578847 21 27 0.00227027 Mouse Phenotype abnormal fourth pharyngeal arch morphology 329 9.678779e-19 2.812729666231003e-17 2.093776 177 0.01142746 900 0.003450576585666667 1.637053 25 31 0.002702703 Mouse Phenotype abnormal metatarsal bone morphology 343 1.977908e-18 5.5133464688046644e-17 2.006455 193 0.01246046 583 0.00022932214296740995 1.674705 33 40 0.003567568 Mouse Phenotype small first pharyngeal arch 345 2.022116e-18 5.603898862608695e-17 2.331007 137 0.008844987 1219 0.013659170881870386 1.660865 18 22 0.001945946 Mouse Phenotype abnormal pulmonary valve cusp morphology 370 2.827199e-17 7.305635037567568e-16 2.413829 119 0.007682872 1266 0.0176055317535545 1.578847 21 27 0.00227027 Mouse Phenotype increased body temperature 382 6.947757e-17 1.7389399130104711e-15 2.373204 120 0.007747434 829 0.0020989889551266587 1.623957 28 35 0.003027027 Mouse Phenotype iris synechia 383 7.313582e-17 1.825722127989556e-15 2.131961 151 0.009748854 1075 0.00860992508372093 1.639572 21 26 0.00227027 Mouse Phenotype abnormal third pharyngeal arch artery morphology 414 4.473986e-16 1.0332314044927536e-14 2.401271 111 0.007166376 1323 0.021174008848072565 1.64329 17 21 0.001837838 Mouse Phenotype absent teeth 420 6.480341e-16 1.4752033405e-14 2.468884 104 0.006714443 1341 0.022256375286353467 1.691622 15 18 0.001621622 Mouse Phenotype double ureter 434 1.759677e-15 3.876560321889401e-14 2.506444 98 0.006327071 1503 0.034034411928143715 1.67172 14 17 0.001513514