# 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 regulation of intrinsic apoptotic signaling pathway 139 5.266146e-31 4.985411166474821e-29 2.139747 288 0.02219482 435 0.005225907783908046 1.317065 94 155 0.01087208 GO Biological Process erythrocyte homeostasis 288 2.766723e-19 1.2641426373958336e-17 2.105365 180 0.01387176 169 0.000012092342360946745 1.635868 58 77 0.006708304 GO Biological Process regulation of membrane permeability 312 1.969285e-18 8.305711959935898e-17 2.107021 171 0.01317818 655 0.03188258952366412 1.367402 51 81 0.005898681 GO Biological Process regulation of tumor necrosis factor-mediated signaling pathway 420 3.772174e-15 1.1818580396666667e-13 2.197357 125 0.009633169 646 0.030249628094427248 1.435567 39 59 0.004510756 GO Biological Process CD4-positive, alpha-beta T cell lineage commitment 532 4.000944e-13 9.896319942857143e-12 4.879915 33 0.002543157 503 0.011176990373558647 2.171756 10 10 0.001156604 GO Biological Process activation of signaling protein activity involved in unfolded protein response 563 1.18919e-12 2.7794939982238006e-11 4.109879 38 0.002928483 686 0.03869473005976677 2.171756 8 8 0.0009252834 GO Biological Process T-helper cell lineage commitment 611 5.653326e-12 1.2175469203600654e-10 4.680324 31 0.002389026 585 0.020882964098119655 2.171756 9 9 0.001040944 GO Biological Process regulation of endoplasmic reticulum unfolded protein response 630 1.032592e-11 2.156806052063492e-10 2.424352 76 0.005856967 661 0.03343351524205749 1.699635 18 23 0.002081888 GO Biological Process carbohydrate phosphorylation 702 5.69142e-11 1.0668574897435899e-9 2.78233 55 0.004238594 591 0.021463364352791878 1.719307 19 24 0.002197548 GO Biological Process regulation of transforming growth factor beta production 771 3.388091e-10 5.782605638002594e-9 2.11008 87 0.006704686 674 0.03472371148664689 1.628817 21 28 0.002428869 GO Biological Process alpha-beta T cell lineage commitment 818 8.385185e-10 1.348907694559902e-8 3.529242 34 0.002620222 444 0.0058267666713963965 2.171756 11 11 0.001272265 GO Biological Process gene silencing by miRNA 945 9.513595e-9 1.3247555196296297e-7 2.00546 82 0.006319359 714 0.046035545121848744 1.480743 30 44 0.003469813 GO Biological Process clathrin coat assembly 1572 0.00001113834 0.00009323754202290077 2.044798 45 0.003467941 711 0.0451228957862166 1.788505 14 17 0.001619246 GO Biological Process regulation of establishment of endothelial barrier 1781 0.00004510089 0.00033322998961819207 2.15612 34 0.002620222 633 0.02835760342338073 1.990776 11 12 0.001272265 GO Biological Process CD4-positive or CD8-positive, alpha-beta T cell lineage commitment 1825 0.00006274454 0.0004524139188273973 2.045133 37 0.002851418 481 0.009131361126819126 2.01663 13 14 0.001503585 GO Biological Process organelle inheritance 2200 0.0003966132 0.002372287772181818 2.033103 29 0.002234895 730 0.04927594849315069 1.974323 10 11 0.001156604 GO Molecular Function microtubule plus-end binding 229 0.000002332615 0.00004300567917030568 2.42559 36 0.002774353 66 0.00578698985 2.171756 12 12 0.001387925 Human Phenotype Abnormality of thrombocytes 2 8.92312e-36 2.977198988e-32 2.061491 365 0.02812885 9 0.01605812221888889 1.350726 102 164 0.01179736 Human Phenotype Anemia of inadequate production 30 1.62749e-15 3.6200802566666664e-13 2.023198 156 0.01202219 11 0.025670090713636365 1.520229 49 70 0.005667361 Mouse Phenotype Single KO abnormal T cell activation 29 4.223307e-62 1.3335455930689654e-59 2.029159 665 0.05124846 236 0.0008410948945338981 1.262474 168 289 0.01943095 Mouse Phenotype Single KO abnormal platelet activation 43 3.458478e-48 7.364949545581396e-46 2.845715 264 0.02034525 503 0.01569012445646123 1.379704 54 85 0.006245663 Mouse Phenotype Single KO abnormal platelet physiology 44 3.848975e-48 8.010241835227272e-46 2.515987 326 0.0251233 251 0.0011169318241832668 1.421513 72 110 0.00832755 Mouse Phenotype Single KO abnormal platelet aggregation 49 1.897532e-46 3.5460613314285716e-44 2.846943 254 0.0195746 514 0.017525821023346305 1.392151 50 78 0.005783021 Mouse Phenotype Single KO decreased platelet aggregation 51 1.000641e-45 1.7966411052941176e-43 3.282552 202 0.0155672 659 0.03292729363277694 1.411641 39 60 0.004510756 Mouse Phenotype Single KO abnormal erythropoiesis 67 1.530136e-40 2.091261992835821e-38 2.219238 351 0.02704994 102 0.0000031963855117647057 1.559715 79 110 0.009137173 Mouse Phenotype Single KO decreased T cell proliferation 69 5.024929e-40 6.668590558405797e-38 2.105247 390 0.03005549 546 0.020673436895604396 1.274097 88 150 0.01017812 Mouse Phenotype Single KO abnormal B cell activation 91 3.024268e-35 3.0432112171428574e-33 2.062414 359 0.02766646 252 0.0011236303972619048 1.357347 95 152 0.01098774 Mouse Phenotype Single KO abnormal B cell proliferation 108 1.831528e-32 1.5528983237037038e-30 2.04598 336 0.02589396 266 0.0014196365613533834 1.36915 87 138 0.01006246 Mouse Phenotype Single KO enlarged lymph nodes 115 3.937279e-31 3.13510120026087e-29 2.050143 320 0.02466091 430 0.008284493356046512 1.322648 81 133 0.009368494 Mouse Phenotype Single KO abnormal megakaryocyte progenitor cell morphology 136 7.209631e-27 4.854308166691176e-25 2.09542 260 0.02003699 562 0.022206539679715302 1.357347 55 88 0.006361323 Mouse Phenotype Single KO altered susceptibility to parasitic infection 147 3.700697e-26 2.3052573080952383e-24 2.14235 240 0.01849568 176 0.0002415812747102273 1.454132 77 115 0.008905852 Mouse Phenotype Single KO abnormal NK cell physiology 148 6.174822e-26 3.820462503648649e-24 2.034391 269 0.02073058 207 0.0004850073616908212 1.469774 67 99 0.007749248 Mouse Phenotype Single KO increased IgG1 level 152 4.317058e-25 2.6007434280263158e-23 2.303351 196 0.01510481 184 0.00029096666097826087 1.56849 52 72 0.006014342 Mouse Phenotype Single KO impaired natural killer cell mediated cytotoxicity 154 5.853809e-25 3.480735650194805e-23 2.423147 176 0.0135635 196 0.00036144641214285714 1.619614 44 59 0.005089059 Mouse Phenotype Single KO abnormal circulating tumor necrosis factor level 159 1.516952e-24 8.736307838993712e-23 2.266731 198 0.01525894 358 0.004617637222625698 1.385787 67 105 0.007749248 Mouse Phenotype Single KO increased IgM level 163 6.029486e-24 3.387239466380368e-22 2.099257 229 0.01764797 207 0.0004850073616908212 1.469774 67 99 0.007749248 Mouse Phenotype Single KO extramedullary hematopoiesis 164 7.219268e-24 4.030904699756097e-22 2.073575 235 0.01811036 416 0.007575793012980768 1.352585 71 114 0.00821189 Mouse Phenotype Single KO abnormal circulating interferon level 172 3.552763e-23 1.8914331855232556e-21 2.435111 161 0.01240752 578 0.02282260262283737 1.351315 56 90 0.006476984 Mouse Phenotype Single KO abnormal cell chemotaxis 174 3.641661e-23 1.916476423965517e-21 2.015725 244 0.01880395 702 0.0394253461025641 1.291314 66 111 0.007633588 Mouse Phenotype decreased inflammatory response 37 1.263262e-62 3.264337292432432e-60 2.15844 581 0.04477497 579 0.005158573975129534 1.21532 169 302 0.01954661 Mouse Phenotype abnormal erythropoiesis 49 1.446995e-54 2.823412080612245e-52 2.280772 449 0.03460234 113 1.0412665112389381e-7 1.530432 105 149 0.01214434 Mouse Phenotype abnormal platelet physiology 50 2.511765e-54 4.802997033e-52 2.512154 370 0.02851418 264 0.00011304140514772727 1.431384 87 132 0.01006246 Mouse Phenotype abnormal platelet activation 54 1.382989e-52 2.4486588572222223e-50 2.863179 286 0.02204069 627 0.007082428928229665 1.368206 63 100 0.007286607 Mouse Phenotype abnormal platelet aggregation 55 8.769944e-52 1.5245351742545454e-49 2.866507 281 0.02165536 524 0.003170119239503817 1.409331 61 94 0.007055286 Mouse Phenotype decreased platelet aggregation 58 1.514774e-50 2.4970265886206895e-48 3.272458 225 0.0173397 587 0.005333845725383304 1.447837 48 72 0.0055517 Mouse Phenotype extramedullary hematopoiesis 73 3.694067e-43 4.838215696849315e-41 2.108333 420 0.03236745 256 0.00009442070123437499 1.377514 111 175 0.01283831 Mouse Phenotype increased circulating interferon-gamma level 142 1.968308e-29 1.325281182253521e-27 3.326713 125 0.009633169 984 0.037269691347560974 1.419994 34 52 0.003932454 Mouse Phenotype decreased circulating alanine transaminase level 143 2.314266e-29 1.5473214843356642e-27 2.24283 245 0.01888101 747 0.016454788180722893 1.363661 54 86 0.006245663 Mouse Phenotype increased circulating tumor necrosis factor level 157 2.485137e-28 1.5134009463057327e-26 2.42575 201 0.01549014 540 0.003616729768333333 1.396129 63 98 0.007286607 Mouse Phenotype abnormal circulating tumor necrosis factor level 158 2.787249e-28 1.686638461329114e-26 2.123704 266 0.02049938 603 0.005816703104477612 1.309003 88 146 0.01017812 Mouse Phenotype abnormal iron level 169 3.766185e-26 2.1306801647928993e-24 2.080386 257 0.0198058 369 0.000669374678699187 1.383489 86 135 0.009946796 Mouse Phenotype decreased erythroid progenitor cell number 170 5.354609e-26 3.0114950970000002e-24 2.113648 246 0.01895808 693 0.012568977518181819 1.400211 49 76 0.005667361 Mouse Phenotype abnormal iron homeostasis 174 1.630743e-25 8.960651622413793e-24 2.026243 267 0.02057645 353 0.0005739389753541076 1.380616 89 140 0.01029378 Mouse Phenotype increased B cell proliferation 179 4.336562e-25 2.316305546480447e-23 2.320503 193 0.01487361 669 0.010668212391031391 1.394214 52 81 0.006014342 Mouse Phenotype increased respiratory quotient 187 2.060091e-24 1.0532903770588235e-22 2.647006 146 0.01125154 391 0.0008148001572890026 1.590035 41 56 0.004742077 Mouse Phenotype impaired natural killer cell mediated cytotoxicity 203 1.101653e-22 5.188622824137932e-21 2.284232 179 0.0137947 299 0.0003175541935585284 1.602115 45 61 0.005204719 Mouse Phenotype increased IgG1 level 209 2.648652e-22 1.2116632426794259e-20 2.006487 237 0.01826449 408 0.0009266040806617647 1.44045 65 98 0.007517927 Mouse Phenotype abnormal splenic cell ratio 210 2.766028e-22 1.2593330337142858e-20 2.269614 178 0.01371763 967 0.036314981736297824 1.3885 39 61 0.004510756 Mouse Phenotype abnormal embryonic erythropoiesis 211 3.485012e-22 1.5791563854028436e-20 2.782017 121 0.009324908 1022 0.04117594332974559 1.541246 22 31 0.002544529