# 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 negative regulation of ossification 33 0.000003232328 0.0012889152773333332 2.724681 28 0.02538531 169 0.0009001262115384616 2.959706 19 70 0.01103368 GO Biological Process transforming growth factor beta receptor signaling pathway 55 0.0000123462 0.0029538844690909093 2.529653 28 0.02538531 241 0.004527310814688797 2.462234 21 93 0.01219512 GO Biological Process mesoderm morphogenesis 60 0.00001604815 0.0035196267641666667 2.445675 29 0.02629193 89 0.00007647828939662921 3.318664 21 69 0.01219512 GO Biological Process mesoderm formation 63 0.0000169902 0.003548794314285714 2.484135 28 0.02538531 107 0.00016639998232710282 3.254979 20 67 0.0116144 GO Biological Process foregut morphogenesis 80 0.00003237731 0.005325662778625 4.716233 11 0.009972801 422 0.03417701006398104 5.452091 5 10 0.0029036 GO Biological Process primary miRNA processing 92 0.00005685792 0.008132536622608696 7.429471 7 0.006346328 361 0.0216073586767313 6.057878 5 9 0.0029036 GO Biological Process negative regulation of muscle adaptation 93 0.0000569496 0.00805806221935484 5.442796 9 0.008159565 173 0.0009711273542774567 6.939024 7 11 0.004065041 GO Biological Process negative regulation of cardiac muscle hypertrophy in response to stress 120 0.0001201065 0.013170678612499999 6.577685 7 0.006346328 205 0.0022957775531219516 9.086818 5 6 0.0029036 GO Biological Process mammary gland epithelial cell differentiation 127 0.0001328002 0.013759982927559053 3.72563 12 0.01087942 225 0.0032829687286666668 5.131379 8 17 0.004645761 GO Biological Process SMAD protein signal transduction 136 0.0001563164 0.015124761085294118 2.513705 21 0.01903898 204 0.002294948306421569 3.060823 16 57 0.009291521 GO Biological Process embryonic pattern specification 142 0.0001828048 0.016940340585915495 2.229944 26 0.02357208 99 0.00010516242141818182 3.355133 20 65 0.0116144 GO Biological Process mesenchymal to epithelial transition 151 0.000229866 0.020031832410596025 3.505927 12 0.01087942 309 0.012471231450485435 4.770579 7 16 0.004065041 GO Biological Process vasculogenesis 167 0.0003551698 0.027986104180838325 2.170885 25 0.02266546 276 0.007729043540579711 2.726045 16 64 0.009291521 GO Biological Process embryonic axis specification 169 0.0003581561 0.02788743266213018 2.745182 16 0.01450589 432 0.0342881199699074 3.028939 10 36 0.005807201 GO Biological Process venous blood vessel development 175 0.0003828685 0.028789523379999998 3.537877 11 0.009972801 309 0.012471231450485435 4.770579 7 16 0.004065041 GO Biological Process cellular response to mechanical stimulus 177 0.000389428 0.02895188164971751 2.34373 21 0.01903898 359 0.021690804428412255 2.376552 17 78 0.009872242 GO Biological Process mesodermal cell differentiation 183 0.000441171 0.03172332890163935 2.926582 14 0.01269266 222 0.0032645422165315315 4.193916 10 26 0.005807201 GO Biological Process positive regulation of cell-matrix adhesion 184 0.0004533485 0.03242180930163043 2.591788 17 0.01541251 208 0.0025600043694711536 3.318664 14 46 0.008130081 GO Biological Process mammary gland epithelium development 222 0.0007681141 0.04552979027882883 2.172993 22 0.0199456 127 0.00038365364981102364 3.432798 17 54 0.009872242 GO Molecular Function transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding 13 0.0000421458 0.013687659046153846 2.148184 34 0.03082502 13 0.00024388262835384615 2.835087 26 100 0.01509872 GO Molecular Function primary miRNA binding 17 0.0001000868 0.02485685115294118 6.777207 7 0.006346328 37 0.03252367492432432 6.815113 5 8 0.0029036 GO Molecular Function I-SMAD binding 18 0.0001479964 0.034713377822222224 4.319502 10 0.009066183 33 0.023233064684848485 5.947735 6 11 0.003484321 Human Phenotype Reduced number of teeth 1 4.427178e-8 0.00029542558794 2.76096 38 0.0344515 1 0.0000065910842538999994 3.407557 30 96 0.0174216 Human Phenotype Abnormal number of teeth 3 0.000003345147 0.007440721977 2.273423 39 0.03535811 2 0.000022426958723 3.101189 31 109 0.01800232 Human Phenotype Oligodontia 16 0.0001030752 0.0429888006 3.586278 13 0.01178604 5 0.023638261702 5.165138 9 19 0.005226481 Mouse Phenotype Single KO increased transitional stage B cell number 17 1.987352e-7 0.00010704813096470589 5.488866 15 0.01359927 243 0.0183230251090535 3.965157 8 22 0.004645761 Mouse Phenotype Single KO increased immature B cell number 32 0.000002457447 0.00070321381809375 3.487778 20 0.01813237 172 0.008851656640697675 3.271254 12 40 0.006968641 Mouse Phenotype Single KO increased prepulse inhibition 33 0.000002673026 0.0007417242146060606 3.467858 20 0.01813237 280 0.028936810045357142 3.11548 10 35 0.005807201 Mouse Phenotype Single KO abnormal immature B cell number 35 0.000003437731 0.0008994086504857142 2.433969 34 0.03082502 127 0.004050597507952756 2.357661 24 111 0.01393728 Mouse Phenotype Single KO abnormal immature B cell morphology 36 0.000003694217 0.0009396651408055555 2.425597 34 0.03082502 158 0.006786641003164557 2.256037 24 116 0.01393728 Mouse Phenotype Single KO decreased macrophage cell number 65 0.000046282 0.006520065753846154 2.343416 28 0.02538531 131 0.0041385054509923665 2.51635 21 91 0.01219512 Mouse Phenotype Single KO abnormal vertebral body morphology 97 0.0002220606 0.02096297849690722 2.668743 18 0.01631913 197 0.01265682864111675 2.82701 14 54 0.008130081 Mouse Phenotype Single KO decreased susceptibility to injury 99 0.000232633 0.021517377585858585 2.00642 32 0.02901179 250 0.018954521161600003 2.019293 25 135 0.014518 Mouse Phenotype Single KO abnormal keratinocyte morphology 100 0.0002331701 0.021351386057 2.979132 15 0.01359927 233 0.017023381765665233 2.835087 13 50 0.007549361 Mouse Phenotype Single KO abnormal lateral plate mesoderm morphology 101 0.0002341721 0.021230830888118814 4.496358 9 0.008159565 298 0.033679107989932885 5.452091 5 10 0.0029036 Mouse Phenotype Single KO decreased hepatocyte proliferation 107 0.0002573769 0.022026170778504675 3.711227 11 0.009972801 188 0.011479181104787234 3.925505 9 25 0.005226481 Mouse Phenotype Single KO abnormal fibula morphology 116 0.0003611556 0.028509498527586205 2.560126 18 0.01631913 252 0.020210084030555554 2.907782 12 45 0.006968641 Mouse Phenotype Single KO increased long bone epiphyseal plate size 133 0.0005599047 0.03854922810451127 3.639822 10 0.009066183 311 0.03773873526688103 3.489338 8 25 0.004645761 Mouse Phenotype increased transitional stage B cell number 27 3.414079e-7 0.0001208963308111111 4.374369 18 0.01631913 295 0.008383165825423729 3.331833 11 36 0.006387921 Mouse Phenotype extramedullary hematopoiesis 30 0.0000010123 0.00032262001 2.362192 40 0.03626473 355 0.0160730778971831 1.869288 30 175 0.0174216 Mouse Phenotype increased immature B cell number 34 0.000002283971 0.0006422660803235294 2.985224 25 0.02266546 207 0.0031541863708695653 2.808653 17 66 0.009872242 Mouse Phenotype increased prepulse inhibition 43 0.000006505738 0.0014465432794883721 3.261541 20 0.01813237 554 0.04621043574909747 2.726045 10 40 0.005807201 Mouse Phenotype decreased hepatocyte proliferation 48 0.000009686805 0.0019294904709375 3.763564 16 0.01450589 232 0.0039472304142672415 3.443426 12 38 0.006968641 Mouse Phenotype abnormal esophageal smooth muscle morphology 49 0.000009868052 0.0019254784728979593 5.997742 10 0.009066183 242 0.0045694863595041315 7.788701 5 7 0.0029036 Mouse Phenotype abnormal immature B cell number 64 0.00002104782 0.0031443469846875 2.048716 41 0.03717135 262 0.00578332847519084 1.98841 31 170 0.01800232 Mouse Phenotype abnormal articular cartilage morphology 69 0.00002529563 0.00350509447 4.848205 11 0.009972801 582 0.04932002423195876 3.848535 6 17 0.003484321 Mouse Phenotype abnormal immature B cell morphology 71 0.00002733706 0.003681262403661972 2.024621 41 0.03717135 323 0.010914698477089783 1.899043 31 178 0.01800232 Mouse Phenotype abnormal vertebral body morphology 85 0.00005014215 0.005640107013529412 2.529409 24 0.02175884 141 0.0007740856834042554 3.066801 18 64 0.01045296 Mouse Phenotype abnormal fibroblast apoptosis 86 0.00005286301 0.005877014402441861 2.897789 19 0.01722575 338 0.013752429252071006 2.492384 16 70 0.009291521 Mouse Phenotype persistence of notochord tissue 87 0.00005533682 0.006081325701379311 9.356065 6 0.00543971 402 0.021611926992537313 7.269454 4 6 0.00232288 Mouse Phenotype decreased vascular endothelial cell number 93 0.0000649838 0.00668075389032258 5.348287 9 0.008159565 427 0.0245413852763466 5.452091 5 10 0.0029036 Mouse Phenotype increased long bone epiphyseal plate size 99 0.00007437856 0.007183165779393938 3.707865 13 0.01178604 178 0.0021157284446629214 3.9982 11 30 0.006387921 Mouse Phenotype abnormal leukocyte migration 120 0.0001527206 0.012168013804999999 2.005133 34 0.03082502 380 0.018212160143684212 1.848166 30 177 0.0174216 Mouse Phenotype abnormal body temperature 125 0.0001606518 0.012287934878399999 2.107037 30 0.02719855 496 0.03810713891129033 1.899971 23 132 0.01335656 Mouse Phenotype abnormal epidermal-dermal junction morphology 129 0.0001705117 0.012637692741860464 6.208249 7 0.006346328 228 0.003753398672105263 6.542509 6 10 0.003484321 Mouse Phenotype abnormal keratinocyte morphology 130 0.0001719518 0.012646393536923076 2.378483 23 0.02085222 271 0.006337658791881919 2.396523 20 91 0.0116144 Mouse Phenotype abnormal lateral plate mesoderm morphology 131 0.0001728605 0.012616177408396946 3.890791 11 0.009972801 495 0.038165889527272734 3.634727 7 21 0.004065041 Mouse Phenotype abnormal vascular branching morphogenesis 168 0.0003980494 0.022653275675 2.464655 19 0.01722575 299 0.008854765063545152 3.11548 12 42 0.006968641