# 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 mesodermal cell differentiation 212 4.636476e-10 2.8778956454716984e-8 2.235099 75 0.00969368 968 0.03690797713016529 1.784746 17 26 0.002471289 GO Biological Process regulation of retinoic acid receptor signaling pathway 279 1.44478e-8 6.814286745519713e-7 2.701115 43 0.00555771 899 0.03004505621134594 2.047209 12 16 0.00174444 GO Biological Process TOR signaling 426 0.000001200345 0.00003707826257042254 2.259244 44 0.005686959 851 0.022025815626321974 1.856136 17 25 0.002471289 GO Biological Process positive regulation of icosanoid secretion 531 0.000006334303 0.00015697381012617703 2.642904 28 0.003618974 899 0.03004505621134594 2.047209 12 16 0.00174444 GO Biological Process hepatocyte growth factor receptor signaling pathway 624 0.00002393522 0.0005047492948397435 2.450583 28 0.003618974 839 0.02002962915137068 2.274677 10 12 0.0014537 GO Biological Process regulation of icosanoid secretion 798 0.0001085984 0.001790784894235589 2.138193 31 0.004006721 921 0.033112201729641695 1.971386 13 18 0.00188981 GO Biological Process regulation of mitotic centrosome separation 1576 0.003034153 0.025334022415609135 2.114303 18 0.002326483 986 0.03919925968661257 2.233319 9 11 0.00130833 GO Cellular Component axon initial segment 148 0.0005947907 0.0069445833081081074 2.140739 24 0.003101978 73 0.030229632000000003 2.274677 10 12 0.0014537 Human Phenotype Intestinal malrotation 79 7.778225e-8 0.000006570138661392405 2.010394 71 0.009176683 154 0.019363156761038964 1.749751 25 39 0.003634249 Human Phenotype Abnormality of the renal collecting system 322 0.000207363 0.004297308381987578 2.358184 23 0.002972728 181 0.02929063210331492 2.456651 9 10 0.00130833 Mouse Phenotype Single KO abnormal fourth pharyngeal arch morphology 210 8.924379e-8 0.000003891454214428572 2.11741 62 0.008013442 311 0.0012385066272347267 2.209686 17 21 0.002471289 Mouse Phenotype Single KO abnormal fourth pharyngeal arch artery morphology 213 1.076887e-7 0.000004629602938497653 2.219809 55 0.007108698 670 0.028053576540298508 2.047209 12 16 0.00174444 Mouse Phenotype Single KO premature suture closure 219 1.231003e-7 0.000005147166425114155 2.248292 53 0.0068502 758 0.03548263809102903 2.233319 9 11 0.00130833 Mouse Phenotype Single KO abnormal metanephros morphology 248 3.189496e-7 0.00001177669954516129 2.125909 56 0.007237948 362 0.0023728260907734805 2.183689 16 20 0.002325919 Mouse Phenotype Single KO ectopic ovary 294 0.000001222807 0.00003808586292176871 2.715492 31 0.004006721 554 0.014611563743682313 2.729612 7 7 0.00101759 Mouse Phenotype Single KO oocyte degeneration 585 0.00007007247 0.0010968437739999998 2.433936 25 0.003231227 554 0.014611563743682313 2.729612 7 7 0.00101759 Mouse Phenotype Single KO abnormal midface morphology 606 0.00007767108 0.0011736535966336632 2.022144 37 0.004782215 532 0.013675013884022556 2.456651 9 10 0.00130833 Mouse Phenotype Single KO bifid ureter 862 0.0003725811 0.0039579177873549885 2.070264 28 0.003618974 661 0.027221281267776096 2.426322 8 9 0.00116296 Mouse Phenotype Single KO abnormal auditory tube 1032 0.001006887 0.00893417079360465 2.180417 21 0.00271423 554 0.014611563743682313 2.729612 7 7 0.00101759 Mouse Phenotype abnormal fourth pharyngeal arch artery morphology 151 1.292219e-10 8.182056860264902e-9 2.196533 83 0.01072767 836 0.016737514047846888 1.819741 18 27 0.002616659 Mouse Phenotype abnormal fourth pharyngeal arch morphology 157 2.142279e-10 1.3046069757324841e-8 2.107646 89 0.01150317 493 0.0020683448993914807 1.937144 22 31 0.003198139 Mouse Phenotype enlarged liver sinusoidal spaces 164 4.277757e-10 2.4938801632317075e-8 2.28266 72 0.009305933 1003 0.033397554837487534 1.597822 24 41 0.003488879 Mouse Phenotype decreased endocochlear potential 382 0.000001210722 0.00003030291372251309 2.150859 49 0.006333204 780 0.011882837367692307 2.08735 13 17 0.00188981 Mouse Phenotype abnormal cricoid cartilage morphology 486 0.000006496156 0.00012779783439506172 2.05245 47 0.006074706 1069 0.04160980292329279 1.926785 12 17 0.00174444 Mouse Phenotype ectopic ovary 508 0.000008674669 0.00016326478407283464 2.457075 31 0.004006721 1085 0.042354648409216586 2.38841 7 8 0.00101759 Mouse Phenotype delayed hepatic development 876 0.0002340843 0.0025548858359589043 2.133368 28 0.003618974 858 0.018995935206293706 2.144695 11 14 0.00159907 Mouse Phenotype oocyte degeneration 908 0.0002803391 0.0029518966245594713 2.108835 28 0.003618974 619 0.0049990190491114705 2.729612 8 8 0.00116296 Mouse Phenotype bifid ureter 962 0.0003725811 0.0037029603919958424 2.070264 28 0.003618974 883 0.021276462530011326 2.426322 8 9 0.00116296 Mouse Phenotype abnormal frontonasal suture morphology 1047 0.0006026173 0.005502983768194842 2.328224 20 0.002584981 929 0.024847454076426266 2.729612 6 6 0.0008722198 Mouse Phenotype abnormal auditory tube 1157 0.001006887 0.008320524292999135 2.180417 21 0.00271423 761 0.011106364155059134 2.729612 7 7 0.00101759 Mouse Phenotype abnormal Schwann cell physiology 1169 0.001086806 0.008888752922155688 2.39835 17 0.002197234 1085 0.042354648409216586 2.38841 7 8 0.00101759