# 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 macrophage differentiation 190 0.000001113765 0.00007713701913157895 2.971366 27 0.005625 793 0.0385314105220681 2.072358 13 21 0.002317704 GO Biological Process branching involved in mammary gland duct morphogenesis 294 0.0000186435 0.0008344551581632653 2.168634 37 0.007708333 603 0.011690787302819236 2.23177 14 21 0.002495989 GO Biological Process actin crosslink formation 365 0.00005253537 0.001894008037890411 2.735411 21 0.004375 747 0.0287111235729585 2.510742 9 12 0.001604564 GO Biological Process Peyer's patch development 384 0.00007287045 0.0024971412800781252 3.98782 12 0.0025 638 0.014626579131661443 3.347656 6 6 0.001069709 GO Biological Process cardiac vascular smooth muscle cell differentiation 419 0.0001115024 0.0035018140372315037 3.808028 12 0.0025 638 0.014626579131661443 3.347656 6 6 0.001069709 GO Biological Process positive regulation of sodium ion transmembrane transport 695 0.001064524 0.02015549829640288 2.048324 24 0.005 613 0.012575545395921697 2.290501 13 19 0.002317704 GO Biological Process branching involved in prostate gland morphogenesis 761 0.001522307 0.026323308558475693 2.105379 21 0.004375 737 0.027446549407055633 2.678124 8 10 0.001426279 GO Cellular Component compact myelin 119 0.0004216233 0.006122395482352941 2.461677 19 0.003958333 50 0.00812132352 2.630301 11 14 0.001961134 GO Molecular Function phosphatase activator activity 164 0.001877548 0.04833541253658537 2.274127 17 0.003541667 85 0.027593139287058827 2.738991 9 11 0.001604564 Human Phenotype Hypotelorism 9 8.364632e-7 0.0006201909926222222 2.041934 57 0.011875 85 0.02353775925647059 1.938116 22 38 0.003922268 Human Phenotype Low posterior hairline 26 0.00001004193 0.0025772999573076922 2.206241 38 0.007916667 103 0.02728794425048544 1.969209 20 34 0.003565698 Mouse Phenotype Single KO decreased gamma-delta T cell number 56 1.064099e-7 0.000017399918826785714 2.298233 51 0.010625 598 0.023338666403010036 1.707988 25 49 0.004457122 Mouse Phenotype Single KO increased IgG1 level 63 2.148402e-7 0.000031226852561904763 2.033217 64 0.01333333 473 0.01205572869154334 1.627333 35 72 0.006239971 Mouse Phenotype Single KO impaired neutrophil phagocytosis 130 0.00001039245 0.0007320281896153847 3.755895 16 0.003333333 767 0.046453652019556715 2.317608 9 13 0.001604564 Mouse Phenotype Single KO dilated ureter 133 0.00001090145 0.0007505607342105264 2.172312 39 0.008125 475 0.01238051461263158 2.454947 11 15 0.001961134 Mouse Phenotype Single KO increased B cell apoptosis 135 0.00001186121 0.0008045414812592593 2.340136 33 0.006875 633 0.02868339837282781 2.037703 14 23 0.002495989 Mouse Phenotype Single KO increased interleukin-1 beta secretion 238 0.0001129278 0.004344873380672269 2.231991 28 0.005833333 512 0.015123350658593751 1.927438 19 33 0.003387413 Mouse Phenotype Single KO brain vacuoles 292 0.0002553392 0.008007332378082191 2.120374 28 0.005833333 705 0.037496655100709216 1.93134 15 26 0.002674273 Mouse Phenotype Single KO increased type II pneumocyte number 371 0.0007208186 0.017791201941239895 2.192327 22 0.004583333 767 0.046453652019556715 2.317608 9 13 0.001604564 Mouse Phenotype Single KO abnormal frequency of paradoxical sleep 407 0.0009453142 0.021268408180343982 2.190903 21 0.004375 746 0.04313986675469169 2.23177 10 15 0.001782849 Mouse Phenotype Single KO abnormal vas deferens morphology 481 0.001695441 0.032276825856548855 2.009343 23 0.004791667 383 0.005527062392950392 2.282492 15 22 0.002674273 Mouse Phenotype Single KO increased pulmonary respiratory rate 490 0.001795956 0.03356238590204082 2.000011 23 0.004791667 743 0.04261841573485868 1.952799 14 24 0.002495989 Mouse Phenotype Single KO enlarged allantois 543 0.002428436 0.04095246492081031 2.022401 21 0.004375 593 0.023153003524451942 2.301513 11 16 0.001961134 Mouse Phenotype Single KO choroidal neovascularization 583 0.002919787 0.04586018792281304 2.176224 17 0.003541667 718 0.03957516387047354 2.16613 11 17 0.001961134 Mouse Phenotype Single KO face hypoplasia 589 0.002995896 0.046576264298811544 2.116216 18 0.00375 564 0.02031399270921986 2.929199 7 8 0.001247994 Mouse Phenotype decreased gamma-delta T cell number 69 2.068673e-8 0.000002866461239565217 2.160507 65 0.01354167 558 0.003137867083333333 1.756147 32 61 0.005705117 Mouse Phenotype decreased fetal derived definitive erythrocyte cell number 117 6.542112e-7 0.00005346079729230769 3.679751 21 0.004375 1146 0.03477468352617801 2.603732 7 9 0.001247994 Mouse Phenotype abnormal thymus medulla morphology 127 9.108417e-7 0.00006857131884803149 2.066168 55 0.01145833 1263 0.04899244137767221 1.554269 26 56 0.004635407 Mouse Phenotype dilated ureter 148 0.000002654137 0.00017146083687162163 2.124048 47 0.009791667 607 0.003880750045304778 2.343359 14 20 0.002495989 Mouse Phenotype impaired neutrophil phagocytosis 183 0.00001039245 0.0005429629204918034 3.755895 16 0.003333333 1115 0.03336494881345292 2.317608 9 13 0.001604564 Mouse Phenotype lung cysts 196 0.0000143922 0.0007020603275510204 2.754785 24 0.005 1146 0.03477468352617801 2.603732 7 9 0.001247994 Mouse Phenotype increased circulating testosterone level 211 0.00001783878 0.0008083250027488152 2.326139 32 0.006666667 1138 0.03471867110456943 1.97816 13 22 0.002317704 Mouse Phenotype abnormal thymus corticomedullary boundary morphology 269 0.00007295491 0.002593018195204461 2.25441 29 0.006041667 813 0.01185587520295203 1.9438 18 31 0.003209128 Mouse Phenotype testis degeneration 323 0.0001324187 0.003919675513003096 2.433549 23 0.004791667 866 0.015061257821016168 2.23177 12 18 0.002139419 Mouse Phenotype abnormal primary ovarian follicle morphology 488 0.0007829987 0.01534067739897541 2.22499 21 0.004375 1146 0.03477468352617801 2.603732 7 9 0.001247994 Mouse Phenotype choroidal neovascularization 640 0.001970201 0.0294329558765625 2.203417 18 0.00375 1014 0.02544457426627219 2.114309 12 19 0.002139419 Mouse Phenotype midface hypoplasia 719 0.002935318 0.039032789148817804 2.120442 18 0.00375 673 0.0059349488407132245 2.975694 8 9 0.001426279 Mouse Phenotype absent tongue 794 0.003911784 0.04710398844332493 2.112138 17 0.003541667 889 0.01612539546681665 2.301513 11 16 0.001961134