# 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 153 1.033473e-42 8.88854327254902e-41 2.226632 369 0.0227539 503 0.0008438335631013916 1.530744 48 67 0.005461994 GO Biological Process mesoderm morphogenesis 167 2.778252e-40 2.1891627585628742e-38 2.150983 375 0.02312388 461 0.00037780802045553146 1.548307 50 69 0.005689577 GO Biological Process positive regulation of epithelial to mesenchymal transition 230 5.357459e-30 3.0651653470000004e-28 2.104216 290 0.01788247 699 0.00813609298211731 1.553937 32 44 0.003641329 GO Biological Process exocrine system development 268 7.199533e-26 3.535024430858208e-24 2.043547 266 0.01640254 601 0.0037260069770382693 1.579273 34 46 0.003868912 GO Biological Process organelle transport along microtubule 320 1.775529e-23 7.3013081596875e-22 2.234591 195 0.01202442 674 0.007052882334569734 1.456816 45 66 0.005120619 GO Biological Process regulation of epithelial cell proliferation involved in lung morphogenesis 466 4.811279e-18 1.3586184626824035e-16 2.63619 106 0.006536351 924 0.032728441029220776 2.136664 8 8 0.0009103323 GO Biological Process regulation of transforming growth factor beta production 532 2.619488e-16 6.479293720300752e-15 2.328795 120 0.007399642 922 0.03271009129175705 1.602498 21 28 0.002389622 GO Biological Process regulation of transforming growth factor beta2 production 579 2.469208e-15 5.61179759447323e-14 3.272391 63 0.003884812 924 0.032728441029220776 2.136664 8 8 0.0009103323 GO Biological Process platelet-derived growth factor receptor signaling pathway 598 4.742642e-15 1.0436191651839464e-13 2.028613 150 0.009249553 747 0.011942749037751004 1.618685 25 33 0.002844788 GO Biological Process positive regulation of cell junction assembly 619 1.286286e-14 2.734448703392569e-13 2.137416 128 0.007892952 712 0.009246367256460674 1.654191 24 31 0.002730997 GO Biological Process cardiac muscle tissue growth 636 2.539906e-14 5.255129411006289e-13 2.057321 137 0.008447925 868 0.026188062455069126 1.643587 20 26 0.002275831 GO Biological Process heart growth 647 3.967238e-14 8.06876118114374e-13 2.044512 137 0.008447925 1044 0.04706480207279693 1.582714 20 27 0.002275831 GO Biological Process positive regulation of stem cell differentiation 669 8.47638e-14 1.667274804484305e-12 2.005491 140 0.008632916 978 0.039721046975460125 1.759605 14 17 0.001593081 GO Biological Process positive regulation of mesonephros development 744 1.371689e-12 2.4260827353494625e-11 2.038637 121 0.007461306 1024 0.04613731733496094 1.651058 17 22 0.001934456 GO Biological Process coronary vasculature morphogenesis 973 2.213939e-10 2.9941647791366903e-9 2.151589 85 0.005241413 873 0.026141099628865978 1.851775 13 15 0.00147929 GO Biological Process diaphragm development 1088 1.491065e-9 1.803393780790441e-8 2.586456 53 0.003268175 924 0.032728441029220776 2.136664 8 8 0.0009103323 GO Biological Process clathrin coat assembly 1160 4.605946e-9 5.2249692598275864e-8 2.290597 63 0.003884812 978 0.039721046975460125 1.759605 14 17 0.001593081 GO Biological Process coenzyme A biosynthetic process 1422 9.398284e-8 8.697047760618847e-7 3.074573 31 0.001911574 716 0.009241971864664807 2.136664 10 10 0.001137915 GO Biological Process positive regulation of lipopolysaccharide-mediated signaling pathway 1428 1.00083e-7 9.22263443277311e-7 2.112472 62 0.003823149 924 0.032728441029220776 2.136664 8 8 0.0009103323 GO Biological Process nucleus localization 1454 1.287271e-7 0.0000011650068149243467 2.157536 58 0.003576494 1024 0.04613731733496094 1.651058 17 22 0.001934456 GO Cellular Component cleavage furrow 90 1.713333e-15 3.28959936e-14 2.096369 143 0.008817907 65 0.0008601303433846154 1.602498 39 52 0.00443787 GO Cellular Component neurofilament 200 7.801827e-7 0.000006740778528 2.09733 54 0.003329839 115 0.034531886191304345 2.136664 8 8 0.0009103323 Human Phenotype Thick eyebrow 37 6.010995e-24 1.0840910712162162e-21 2.007787 256 0.0157859 48 0.0012363486942916667 1.643587 40 52 0.004551661 Human Phenotype Triphalangeal thumb 77 5.641665e-19 4.889198772077922e-17 2.4423 129 0.007954616 149 0.021666581614093957 1.885291 15 17 0.001706873 Human Phenotype Hamartoma 162 6.059229e-15 2.495878710925926e-13 2.316811 110 0.006783005 182 0.03758625913736264 1.661849 21 27 0.002389622 Human Phenotype Cutis marmorata 166 9.554597e-15 3.840832878373494e-13 2.243454 116 0.007152988 190 0.04332164281578947 1.691525 19 24 0.002162039 Human Phenotype Abnormality of the pupil 340 1.649109e-10 3.236618928529412e-9 2.074295 94 0.005796387 166 0.027253046544578316 1.618685 25 33 0.002844788 Mouse Phenotype Single KO abnormal cell adhesion 155 6.288048e-28 3.714816486193548e-26 2.237801 234 0.0144293 375 0.00031711716584 1.593444 44 59 0.005006827 Mouse Phenotype Single KO dilated brain ventricles 163 4.550913e-27 2.556607996380368e-25 2.049926 277 0.01708084 544 0.0031575019272058824 1.465141 48 70 0.005461994 Mouse Phenotype Single KO abnormal metanephros morphology 187 8.972205e-25 4.393501667647059e-23 2.662416 147 0.009064562 237 0.000009711384871308017 2.136664 20 20 0.002275831 Mouse Phenotype Single KO abnormal facial nerve morphology 188 1.759294e-24 8.569071892553191e-23 2.513582 161 0.009927853 667 0.008276788523238382 1.678807 22 28 0.002503414 Mouse Phenotype Single KO abnormal sternebra morphology 192 5.368609e-24 2.5604350319270836e-22 2.018939 253 0.01560091 519 0.0023827378533718686 1.569794 36 49 0.004096495 Mouse Phenotype Single KO absent corpus callosum 197 8.811108e-24 4.0955997947208122e-22 2.165415 212 0.0130727 953 0.034521457612801676 1.535727 23 32 0.002617205 Mouse Phenotype Single KO abnormal fourth pharyngeal arch morphology 236 3.243136e-22 1.2583642522033898e-20 2.460325 151 0.009311217 584 0.00416862546729452 1.831426 18 21 0.002048248 Mouse Phenotype Single KO abnormal liver sinusoid morphology 243 9.199498e-22 3.466658567325103e-20 2.163797 193 0.01190109 835 0.022040010716167662 1.392069 43 66 0.004893036 Mouse Phenotype Single KO abnormal fourth pharyngeal arch artery morphology 247 1.365628e-21 5.0627755449392706e-20 2.580238 134 0.008262934 486 0.0019049461600823044 2.003122 15 16 0.001706873 Mouse Phenotype Single KO abnormal metacarpal bone morphology 261 2.559259e-21 8.978978798084291e-20 2.114744 199 0.01227107 263 0.000018245677638403045 1.885291 30 34 0.003413746 Mouse Phenotype Single KO abnormal roof plate morphology 268 4.084614e-21 1.3956272536567164e-19 3.873979 72 0.004439785 854 0.024641647837236533 2.136664 8 8 0.0009103323 Mouse Phenotype Single KO increased skin papilloma incidence 281 2.710119e-20 8.83151590142349e-19 3.295526 85 0.005241413 700 0.010715007299857143 1.748179 18 22 0.002048248 Mouse Phenotype Single KO abnormal neural fold formation 311 2.768681e-19 8.152029555305466e-18 2.31618 146 0.009002898 514 0.0023327297163424124 1.755117 23 28 0.002617205 Mouse Phenotype Single KO abnormal thymus development 315 5.165927e-19 1.501726779015873e-17 3.214077 82 0.005056422 486 0.0019049461600823044 2.003122 15 16 0.001706873 Mouse Phenotype Single KO abnormal fourth ventricle morphology 337 5.235662e-18 1.4226396716320473e-16 2.328077 134 0.008262934 526 0.0024880108671102657 1.8453 19 22 0.002162039 Mouse Phenotype Single KO decreased molar number 350 8.398927e-18 2.1973992725428571e-16 3.316038 73 0.004501449 854 0.024641647837236533 2.136664 8 8 0.0009103323 Mouse Phenotype Single KO increased skin tumor incidence 378 5.080806e-17 1.2308185328571428e-15 2.45838 113 0.006967997 932 0.03340543358261803 1.456816 30 44 0.003413746 Mouse Phenotype Single KO abnormal carotid artery morphology 405 1.401851e-16 3.1695678041975308e-15 2.069937 159 0.009804526 710 0.01125268004802817 1.549081 29 40 0.003299954 Mouse Phenotype Single KO anterior iris synechia 450 1.923658e-15 3.9144302902222224e-14 2.402946 106 0.006536351 1036 0.04654009010907336 1.736039 13 16 0.00147929 Mouse Phenotype Single KO iris synechia 483 7.310035e-15 1.3858797203933746e-13 2.226288 119 0.007337979 645 0.006973570847441861 1.816164 17 20 0.001934456 Mouse Phenotype absent kidney 113 6.219813e-45 5.262622309115045e-43 2.115684 436 0.02688537 206 3.761744817669903e-9 1.800902 59 70 0.006713701 Mouse Phenotype abnormal cell adhesion 154 1.174769e-36 7.293484681168831e-35 2.25639 306 0.01886909 461 0.000034888420835140995 1.574384 56 76 0.006372326 Mouse Phenotype abnormal liver sinusoid morphology 172 7.46691e-34 4.1506468901162787e-32 2.289677 273 0.01683419 686 0.0007002615773177843 1.479229 54 78 0.006144743 Mouse Phenotype abnormal peritoneum morphology 211 5.092007e-30 2.3073307548341236e-28 5.03924 79 0.004871431 1136 0.009048005218309861 2.136664 9 9 0.001024124 Mouse Phenotype increased skin papilloma incidence 228 1.788938e-28 7.501770271052631e-27 2.784979 158 0.009742862 444 0.000023582615641891896 1.780553 35 42 0.003982704 Mouse Phenotype abnormal third pharyngeal arch artery morphology 243 2.132732e-27 8.391378869135803e-26 2.913333 141 0.00869458 1590 0.03624477686037736 1.627934 16 21 0.001820665 Mouse Phenotype small first pharyngeal arch 271 8.711107e-26 3.0733171227675277e-24 2.600135 160 0.00986619 1418 0.024207865394217206 1.651058 17 22 0.001934456 Mouse Phenotype abnormal metacarpal bone morphology 272 9.187192e-26 3.229365540882353e-24 2.08236 253 0.01560091 282 2.342439236276596e-7 1.893861 39 44 0.00443787 Mouse Phenotype abnormal third pharyngeal arch morphology 285 2.240718e-25 7.517019227368421e-24 2.575478 160 0.00986619 1656 0.042373913210144935 1.526188 20 28 0.002275831 Mouse Phenotype abnormal roof plate morphology 292 5.352078e-25 1.7524389643150687e-23 3.618748 94 0.005796387 696 0.0007067599722844828 2.136664 13 13 0.00147929 Mouse Phenotype increased skin tumor incidence 299 9.971236e-25 3.188461116923077e-23 2.152862 224 0.01381267 635 0.0004081587888661417 1.464455 61 89 0.006941284 Mouse Phenotype abnormal carotid artery morphology 360 7.733163e-23 2.05379920675e-21 2.032248 236 0.01455263 754 0.0010702459132360743 1.581131 37 50 0.004210287 Mouse Phenotype abnormal neural fold formation 372 1.816275e-22 4.668119697580645e-21 2.395581 161 0.009927853 773 0.00125466789003881 1.696762 27 34 0.003072371 Mouse Phenotype abnormal fourth ventricle morphology 383 5.45666e-22 1.3621703984334203e-20 2.367854 161 0.009927853 743 0.0009442410142934052 1.768273 24 29 0.002730997 Mouse Phenotype abnormal fourth pharyngeal arch morphology 389 8.981264e-22 2.2074515450899743e-20 2.169257 192 0.01183943 793 0.0014090611161412358 1.723116 25 31 0.002844788 Mouse Phenotype abnormal ilium morphology 391 1.125437e-21 2.751995692327365e-20 3.013853 104 0.006413023 1603 0.03712659763942608 1.922997 9 10 0.001024124 Mouse Phenotype abnormal metanephros morphology 394 1.477564e-21 3.5855303055837565e-20 2.387426 155 0.009557871 672 0.0005996568142857143 1.820121 23 27 0.002617205 Mouse Phenotype abnormal fourth pharyngeal arch artery morphology 396 1.822107e-21 4.3992840977272725e-20 2.234781 177 0.01091447 672 0.0005996568142857143 1.820121 23 27 0.002617205 Mouse Phenotype abnormal second pharyngeal arch morphology 397 1.954454e-21 4.7069356911838796e-20 2.022739 223 0.013751 717 0.000797857849205021 1.639765 33 43 0.003755121 Mouse Phenotype abnormal hair follicle outer root sheath morphology 400 2.271758e-21 5.430069559500001e-20 2.564425 134 0.008262934 1032 0.005585449113372093 1.678807 22 28 0.002503414