# 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 mitochondrial transport 33 7.889297e-38 3.1459169461515147e-35 2.222112 324 0.0341592 391 0.015561446370588235 1.289445 113 239 0.01641249 GO Biological Process platelet aggregation 34 1.050092e-37 4.0641648905882353e-35 4.208864 121 0.01275698 124 0.000007953136173709678 2.128572 32 41 0.004647785 GO Biological Process platelet activation 55 2.169166e-32 5.189828253454545e-30 2.20319 281 0.02962572 97 0.0000012869324285670104 1.644077 85 141 0.01234568 GO Biological Process macromolecular complex disassembly 81 1.225199e-28 1.9904189680246914e-26 2.203243 247 0.02604112 480 0.03183469143333333 1.299362 91 191 0.01321714 GO Biological Process coronary artery morphogenesis 126 1.827478e-23 1.9085542065079366e-21 4.503244 68 0.007169215 553 0.04706543598553345 2.424207 8 9 0.001161946 GO Biological Process homotypic cell-cell adhesion 153 2.044043e-21 1.7580105775816995e-19 2.629636 128 0.01349499 201 0.00024185102862686565 1.85246 36 53 0.005228758 GO Biological Process platelet-derived growth factor receptor signaling pathway 247 2.014433e-16 1.0731952974493928e-14 2.474144 107 0.01128097 514 0.03793440166342413 1.735512 21 33 0.003050109 GO Biological Process erythrocyte homeostasis 257 4.655561e-16 2.383755922140078e-14 2.176192 136 0.01433843 576 0.04920367132118056 1.452163 41 77 0.005954975 GO Biological Process regulation of megakaryocyte differentiation 274 1.501913e-15 7.213019404014598e-14 2.313623 115 0.01212441 521 0.0391727517965451 1.47127 41 76 0.005954975 GO Biological Process platelet formation 329 2.0161e-14 8.063787203647416e-13 3.638715 51 0.005376911 478 0.031534717621338915 2.00954 14 19 0.002033406 GO Biological Process face development 375 2.509449e-13 8.8058238376e-12 2.069758 124 0.01307327 243 0.0012827409445679014 1.799974 33 50 0.004793028 GO Biological Process regulation of cellular response to heat 406 8.920366e-13 2.8912092658620687e-11 2.078414 117 0.01233527 268 0.0024405133126865672 1.608368 46 78 0.006681191 GO Biological Process positive regulation of blood vessel endothelial cell migration 419 1.817321e-12 5.707428887589499e-11 2.21808 98 0.0103321 514 0.03793440166342413 1.735512 21 33 0.003050109 GO Biological Process positive regulation of intrinsic apoptotic signaling pathway 444 3.97047e-12 1.1767435750000002e-10 2.393975 81 0.0085398 413 0.01914649475133172 1.616138 32 54 0.004647785 GO Biological Process head morphogenesis 493 1.707753e-11 4.5582802691683567e-10 2.156803 95 0.01001581 283 0.0032175168546289754 1.866002 26 38 0.003776325 GO Biological Process midbrain-hindbrain boundary development 558 9.235911e-11 2.1780529184408602e-9 3.523933 38 0.004006326 553 0.04706543598553345 2.424207 8 9 0.001161946 GO Biological Process neurotrophin TRK receptor signaling pathway 564 1.151997e-10 2.687788745212766e-9 3.364111 40 0.004217185 437 0.023435170243707094 2.181786 12 15 0.001742919 GO Biological Process face morphogenesis 633 7.502184e-10 1.55957723943128e-8 2.125344 82 0.008645229 343 0.008687675383965015 1.874973 22 32 0.003195352 GO Biological Process positive regulation of growth hormone secretion 2321 0.002413319 0.013682406170185266 2.21924 17 0.001792304 553 0.04706543598553345 2.424207 8 9 0.001161946 GO Cellular Component cytoplasmic stress granule 160 2.610545e-8 2.8193886e-7 2.15029 65 0.006852926 81 0.027108757333333334 1.649025 26 43 0.003776325 GO Molecular Function type II transforming growth factor beta receptor binding 111 2.71026e-8 0.0000010308754702702703 3.332952 30 0.003162889 81 0.04635943123209877 2.727233 7 7 0.001016703 GO Molecular Function mitogen-activated protein kinase binding 182 0.000003020049 0.00007005849932967033 2.200485 43 0.004533474 71 0.02289015575492958 1.919164 19 27 0.002759622 GO Molecular Function 5S rRNA binding 503 0.00418521 0.035129138409542744 2.608122 11 0.001159726 68 0.019929019676470587 2.479303 10 11 0.001452433 Mouse Phenotype Single KO abnormal platelet activation 15 4.606883e-62 2.812348508733333e-59 3.598163 244 0.02572483 96 0.0001231845425 1.70051 53 85 0.007697894 Mouse Phenotype Single KO abnormal platelet aggregation 16 1.699321e-60 9.725426498125e-58 3.618766 236 0.02488139 117 0.0005362624084444444 1.678297 48 78 0.006971678 Mouse Phenotype Single KO decreased myeloid cell number 18 4.850739e-59 2.4676787235e-56 2.058608 604 0.06367949 73 0.000032452859578082196 1.385971 155 305 0.02251271 Mouse Phenotype Single KO abnormal erythropoiesis 29 4.137584e-50 1.306477816827586e-47 2.655453 307 0.0323669 39 5.927708815641026e-7 1.760305 71 110 0.01031227 Mouse Phenotype Single KO abnormal platelet physiology 32 1.40033e-49 4.007131815625e-47 2.850742 270 0.028466 80 0.000060587668226249997 1.63634 66 110 0.009586057 Mouse Phenotype Single KO decreased erythroid progenitor cell number 35 5.647462e-47 1.4775374152571427e-44 3.272503 208 0.02192936 131 0.0008992104099236641 1.818155 34 51 0.004938272 Mouse Phenotype Single KO abnormal T cell activation 36 7.269542e-47 1.849088780388889e-44 2.041299 489 0.05155509 223 0.006985821918385651 1.283404 136 289 0.01975309 Mouse Phenotype Single KO abnormal platelet morphology 37 1.142423e-46 2.8273425435135137e-44 2.066327 473 0.04986821 91 0.00008948429702857143 1.394375 136 266 0.01975309 Mouse Phenotype Single KO decreased erythrocyte cell number 48 3.599423e-43 6.866649252291668e-41 2.197721 380 0.04006326 195 0.0038617261984102563 1.386993 89 175 0.01292665 Mouse Phenotype Single KO abnormal platelet cell number 53 3.588904e-40 6.200678099622642e-38 2.088632 396 0.04175013 215 0.005471912287906977 1.338128 105 214 0.01525054 Mouse Phenotype Single KO thrombocytopenia 59 4.730245e-38 7.341500587288136e-36 2.258104 315 0.03321033 230 0.007893867494782608 1.390354 78 153 0.01132898 Mouse Phenotype Single KO abnormal mean corpuscular hemoglobin 66 7.377805e-36 1.0236145512878787e-33 2.227435 305 0.03215604 60 0.000009148198596833334 1.542835 99 175 0.01437908 Mouse Phenotype Single KO decreased platelet aggregation 69 3.656789e-35 4.852929981594203e-33 3.334686 150 0.01581444 229 0.007899743899999999 1.63634 36 60 0.005228758 Mouse Phenotype Single KO abnormal erythroid progenitor cell morphology 70 3.742235e-35 4.8953779850000005e-33 2.416731 253 0.0266737 147 0.0016297335825170066 1.604255 50 85 0.007262164 Mouse Phenotype Single KO extramedullary hematopoiesis 85 7.961385e-29 8.57675322882353e-27 2.43841 202 0.02129678 300 0.02107944757566667 1.411463 59 114 0.008569354 Mouse Phenotype Single KO cortical renal glomerulopathies 101 7.226805e-26 6.552064691584158e-24 2.087015 251 0.02646284 160 0.002280874778875 1.465379 72 134 0.01045752 Mouse Phenotype Single KO decreased mean corpuscular hemoglobin 107 4.693063e-25 4.0162969991588786e-23 2.742008 141 0.01486558 349 0.03602791476504298 1.501954 38 69 0.005519245 Mouse Phenotype Single KO abnormal megakaryocyte progenitor cell morphology 138 1.938969e-20 1.2866042849999998e-18 2.105885 191 0.02013706 275 0.01541269612 1.487582 48 88 0.006971678 Mouse Phenotype Single KO decreased circulating alanine transaminase level 149 7.380064e-19 4.5355198689932883e-17 2.178047 162 0.0170796 278 0.016280296177697842 1.527251 42 75 0.006100218 Mouse Phenotype Single KO abnormal platelet volume 164 9.017939e-18 5.035199233109756e-16 2.542006 111 0.01170269 163 0.002408248304785276 1.722463 36 57 0.005228758 Mouse Phenotype abnormal platelet activation 15 4.438456e-64 2.8290718544e-61 3.533505 258 0.02720084 219 0.0011726570865753423 1.554523 57 100 0.008278867 Mouse Phenotype abnormal platelet aggregation 16 2.338093e-63 1.3971566983125e-60 3.544736 254 0.02677912 221 0.0013909273580090498 1.566708 54 94 0.007843137 Mouse Phenotype abnormal erythropoiesis 26 1.08639e-55 3.9949903038461534e-53 2.550382 367 0.03869267 69 0.0000029062696408695653 1.610715 88 149 0.01278141 Mouse Phenotype abnormal platelet physiology 27 7.4314e-55 2.6315413111111113e-52 2.82372 304 0.03205061 107 0.000028446896913084115 1.590886 77 132 0.01118373 Mouse Phenotype decreased erythroid progenitor cell number 31 4.62836e-52 1.4274758051612904e-49 3.032639 258 0.02720084 230 0.0021689095244347826 1.614809 45 76 0.006535948 Mouse Phenotype decreased erythrocyte cell number 35 4.057545e-50 1.1084053641428572e-47 2.137861 470 0.04955192 178 0.00047554705911235953 1.381326 117 231 0.01699346 Mouse Phenotype abnormal erythroid progenitor cell morphology 47 2.454977e-44 4.9940500206382984e-42 2.450923 313 0.03299947 228 0.001997975169605263 1.489665 65 119 0.009440813 Mouse Phenotype extramedullary hematopoiesis 58 6.008402e-42 9.904539917586207e-40 2.300585 335 0.03531892 156 0.00017978099896153845 1.464914 94 175 0.01365287 Mouse Phenotype abnormal mean corpuscular hemoglobin 64 2.887458e-39 4.3135915528125e-37 2.233538 333 0.03510807 62 0.000001983555901935484 1.556302 105 184 0.01525054 Mouse Phenotype decreased platelet aggregation 66 8.666398e-39 1.2554459284545455e-36 3.322857 167 0.01760675 338 0.010118576021893491 1.553008 41 72 0.005954975 Mouse Phenotype abnormal early pro-B cell 70 3.519459e-38 4.807078214142857e-36 14.39695 48 0.005060622 426 0.019961749811971834 2.727233 7 7 0.001016703 Mouse Phenotype thrombocytopenia 86 4.915148e-33 5.4643872125581396e-31 2.003732 358 0.03774381 386 0.015298018603367875 1.304329 99 207 0.01437908 Mouse Phenotype abnormal megakaryocyte progenitor cell morphology 100 4.826604e-29 4.6147160843999996e-27 2.201922 251 0.02646284 393 0.01612679171374046 1.396875 63 123 0.009150327 Mouse Phenotype increased circulating interferon-gamma level 106 2.677109e-27 2.414701806509434e-25 3.677309 101 0.01064839 388 0.015548830060051547 1.625851 31 52 0.004502542 Mouse Phenotype decreased mean corpuscular hemoglobin 109 9.517615e-27 8.348432753669725e-25 2.606472 165 0.01739589 361 0.012224146365373962 1.523 43 77 0.006245461 Mouse Phenotype abnormal circulating tumor necrosis factor level 151 5.009691e-22 3.172030175562914e-20 2.151702 197 0.02076964 390 0.01588167413538462 1.363617 73 146 0.01060276 Mouse Phenotype decreased fibroblast proliferation 160 6.313733e-21 3.7728500758124995e-19 2.096477 198 0.02087507 293 0.006144867752559726 1.426553 68 130 0.009876543 Mouse Phenotype increased circulating tumor necrosis factor level 167 1.917232e-20 1.0976440210778445e-18 2.393985 145 0.0152873 391 0.016147841879539642 1.447103 52 98 0.007552651 Mouse Phenotype abnormal reticulocyte cell number 192 4.942693e-19 2.4613066548437504e-17 2.094766 179 0.0188719 537 0.03885458646927374 1.376127 55 109 0.007988381 Mouse Phenotype increased red blood cell distribution width 193 5.125923e-19 2.5393238239896374e-17 2.157583 167 0.01760675 434 0.021479456210599077 1.45659 47 88 0.006826434