# 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 gene silencing by miRNA 61 1.762788e-11 3.802709392131148e-9 2.410756 75 0.007596475 1031 0.018623724657613965 1.522476 30 44 0.003567606 GO Biological Process negative regulation of Notch signaling pathway 82 1.20868e-9 1.9396366e-7 2.337397 65 0.006583612 462 0.00006709574721212122 1.894637 28 33 0.003329766 GO Biological Process rostrocaudal neural tube patterning 85 1.756089e-9 2.718632370705882e-7 2.792088 46 0.004659171 963 0.0140022828317757 2.046884 11 12 0.001308122 GO Biological Process heterochromatin organization 87 1.825833e-9 2.7616248789655174e-7 3.418427 34 0.003443735 1237 0.041928829133387226 1.889432 11 13 0.001308122 GO Biological Process metanephric tubule morphogenesis 108 1.113108e-8 0.0000013562396455555553 2.766191 42 0.004254026 1266 0.044867876425750394 2.009668 9 10 0.001070282 GO Biological Process metanephric nephron tubule morphogenesis 111 1.288074e-8 0.000001527005924864865 2.879364 39 0.003950167 1045 0.0203354149062201 2.232965 8 8 0.0009513616 GO Biological Process maintenance of protein localization in endoplasmic reticulum 151 2.519605e-7 0.00002195727297682119 5.845812 14 0.001418009 1266 0.044867876425750394 2.009668 9 10 0.001070282 GO Biological Process maintenance of protein localization in organelle 208 0.000001417828 0.00008969807044230769 2.48056 36 0.003646308 1158 0.032704467242659754 1.584685 22 31 0.002616244 GO Biological Process regulation of nuclease activity 224 0.0000022755 0.00013367546651785715 2.362068 38 0.003848881 1184 0.036471124305743244 1.631782 19 26 0.002259484 GO Biological Process corpus callosum development 246 0.000004968755 0.00026578799611788617 2.341478 36 0.003646308 704 0.0021184756343750003 2.0841 14 15 0.001664883 GO Biological Process paraxial mesoderm morphogenesis 272 0.000008916132 0.0004313506653970588 2.063301 45 0.004557885 1266 0.044867876425750394 2.009668 9 10 0.001070282 GO Biological Process positive regulation of dendritic spine morphogenesis 296 0.00001511223 0.000671830522195946 2.096736 41 0.00415274 592 0.0005681427146452704 2.101614 16 17 0.001902723 GO Biological Process hepatocyte apoptotic process 322 0.0000242214 0.0009898428652173915 2.548854 26 0.002633445 963 0.0140022828317757 2.046884 11 12 0.001308122 GO Biological Process establishment or maintenance of transmembrane electrochemical gradient 574 0.000478458 0.010968691327526132 2.373292 20 0.002025727 1237 0.041928829133387226 1.889432 11 13 0.001308122 GO Biological Process mitral valve morphogenesis 604 0.0005989547 0.013049080955794701 2.006575 28 0.002836017 1266 0.044867876425750394 2.009668 9 10 0.001070282 GO Biological Process S-shaped body morphogenesis 874 0.002465319 0.03711800082494279 2.279071 16 0.001620581 1212 0.03916951151897689 2.232965 7 7 0.0008324414 GO Cellular Component PRC1 complex 31 9.493089e-10 5.291631545806452e-8 5.19761 22 0.002228299 132 0.013414424727272728 2.046884 11 12 0.001308122 GO Cellular Component PcG protein complex 35 4.137084e-9 2.0425374720000002e-7 2.0341 83 0.008406766 87 0.0011427832055172415 1.650452 34 46 0.004043287 GO Cellular Component integral component of nuclear inner membrane 98 0.0002703303 0.004766640391836734 2.725436 17 0.001721868 119 0.007685394715966386 1.953844 14 16 0.001664883 GO Cellular Component nuclear membrane part 99 0.0003005632 0.005246194036363636 2.699841 17 0.001721868 145 0.020913709903448274 1.838912 14 17 0.001664883 GO Cellular Component I-kappaB/NF-kappaB complex 197 0.004987845 0.04375124954314721 2.545626 11 0.00111415 168 0.03710755542857143 2.232965 7 7 0.0008324414 GO Molecular Function protein serine/threonine kinase inhibitor activity 18 4.629081e-10 1.0857766656666667e-7 2.236457 75 0.007596475 79 0.00001696007328101266 1.962302 29 33 0.003448686 GO Molecular Function ankyrin binding 69 0.0000424603 0.0025980780666666667 2.040328 39 0.003950167 104 0.002694268488076923 1.997916 17 19 0.002021643 GO Molecular Function cAMP-dependent protein kinase inhibitor activity 122 0.0003646458 0.012619135799999999 2.312444 22 0.002228299 145 0.0210468155862069 2.232965 9 9 0.001070282 Human Phenotype Abnormality of the shoulder 3 3.245759e-11 7.219649935666667e-8 2.238882 85 0.008609339 196 0.0016211018504081632 1.800778 25 31 0.002973005 Human Phenotype Flat acetabular roof 20 2.282009e-8 0.0000076139230284999995 3.280714 31 0.003139876 444 0.049115654626126125 1.814284 13 16 0.001545963 Human Phenotype Aplasia cutis congenita 28 2.011361e-7 0.000047935042689285715 2.342274 47 0.004760458 228 0.003888216615789474 1.91397 18 21 0.002140564 Human Phenotype Down-sloping shoulders 29 4.703097e-7 0.0001082198837275862 2.027218 61 0.006178467 388 0.030181772618556698 1.838912 14 17 0.001664883 Human Phenotype Lipomatous tumor 98 0.00002712387 0.0018469141276530614 2.714171 23 0.002329586 405 0.033565486577777776 1.91397 12 14 0.001427042 Human Phenotype Overgrowth 161 0.00008933007 0.003702481721180125 2.349142 26 0.002633445 369 0.025854023105691053 1.786372 16 20 0.001902723 Mouse Phenotype Single KO extramedullary hematopoiesis 1 1.190347e-18 1.0900007478999999e-14 2.075853 179 0.01813025 691 0.003360514310709117 1.371119 70 114 0.008324414 Mouse Phenotype Single KO abnormal cervical atlas morphology 5 2.036954e-12 3.7304775556e-9 2.096202 111 0.01124278 254 0.0000015941972883070865 1.885615 38 45 0.004518968 Mouse Phenotype Single KO absent stapedial artery 6 2.544801e-11 3.8837904595000004e-8 3.357432 43 0.004355312 796 0.0060884892999999995 1.953844 14 16 0.001664883 Mouse Phenotype Single KO abnormal stapedial artery morphology 7 5.826359e-11 7.621709909e-8 3.267369 43 0.004355312 1001 0.01605367550849151 1.838912 14 17 0.001664883 Mouse Phenotype Single KO thoracic vertebral transformation 13 3.372728e-9 0.000002375697715076923 2.198038 70 0.007090044 582 0.0011314836036426118 1.628203 35 48 0.004162207 Mouse Phenotype Single KO abnormal white fat cell number 16 6.820125e-9 0.0000039032427890625 2.545583 50 0.005064317 1223 0.03468819849059689 1.73675 14 18 0.001664883 Mouse Phenotype Single KO absent segment of posterior cerebral artery 31 5.759609e-8 0.000017013141810645158 2.638143 41 0.00415274 1029 0.017795939832847427 1.725473 17 22 0.002021643 Mouse Phenotype Single KO increased respiratory quotient 34 6.122345e-8 0.000016488915636764704 2.01326 72 0.007292616 915 0.011909233924590163 1.503833 33 49 0.003924367 Mouse Phenotype Single KO abnormal cerebral artery morphology 43 1.514969e-7 0.00003226179333255814 2.391994 46 0.004659171 813 0.007100308515621156 1.767764 19 24 0.002259484 Mouse Phenotype Single KO fusion of vertebral bodies 61 5.861167e-7 0.00008798476429344262 3.453525 23 0.002329586 1052 0.018373346412547526 2.029968 10 11 0.001189202 Mouse Phenotype Single KO abnormal thoracic cavity morphology 72 9.159778e-7 0.00011649456548055556 2.135984 51 0.005165603 813 0.007100308515621156 1.767764 19 24 0.002259484 Mouse Phenotype Single KO aorta coarctation 93 0.000002910008 0.00028652627156989244 2.554898 32 0.003241163 1199 0.03296707111342786 2.009668 9 10 0.001070282 Mouse Phenotype Single KO sacral vertebral transformation 114 0.000006344907 0.0005096518719210527 2.982565 23 0.002329586 1041 0.017919642051873196 1.91397 12 14 0.001427042 Mouse Phenotype Single KO athymia 117 0.000006453415 0.0005050762491880342 2.496006 31 0.003139876 890 0.010543030270786517 2.046884 11 12 0.001308122 Mouse Phenotype Single KO abnormal post-tetanic potentiation 122 0.000008129074 0.0006101469722786885 2.111191 43 0.004355312 1223 0.03468819849059689 1.73675 14 18 0.001664883 Mouse Phenotype Single KO fusion of atlas and odontoid process 188 0.00005241029 0.0025527714123936168 2.263665 30 0.00303859 1199 0.03296707111342786 2.009668 9 10 0.001070282 Mouse Phenotype Single KO excessive folding of visceral yolk sac 208 0.00007096655 0.0031242341266826917 2.339291 27 0.002734731 784 0.005774419383801021 2.061198 12 13 0.001427042 Mouse Phenotype Single KO underdeveloped hair follicles 303 0.0002514798 0.007600001744554455 2.03536 31 0.003139876 1223 0.03468819849059689 1.73675 14 18 0.001664883 Mouse Phenotype Single KO decreased vascular endothelial cell number 471 0.001072644 0.020853930165605095 2.048377 24 0.002430872 1155 0.028602178877056274 2.232965 7 7 0.0008324414 Mouse Phenotype Single KO prolonged circadian period 546 0.001716974 0.028795477871794872 2.044943 22 0.002228299 833 0.007945923541416567 2.232965 9 9 0.001070282 Mouse Phenotype absent stapedial artery 7 2.472413e-13 3.3769629561428575e-10 3.219687 55 0.005570749 890 0.0007129667779550562 1.997916 17 19 0.002021643 Mouse Phenotype abnormal stapedial artery morphology 9 5.40571e-13 5.742665923333333e-10 3.154495 55 0.005570749 1073 0.0022844757570363466 1.89802 17 20 0.002021643 Mouse Phenotype abnormal cervical atlas morphology 10 6.926258e-13 6.6221952738e-10 2.087166 117 0.0118505 499 0.000005711599613627255 1.769519 42 53 0.004994649 Mouse Phenotype enlarged liver sinusoidal spaces 18 1.058382e-10 5.62177239e-8 2.161481 87 0.008811911 1761 0.02862144800851789 1.470489 27 41 0.003210846 Mouse Phenotype thoracic vertebral transformation 26 1.254155e-9 4.611913828846154e-7 2.123162 80 0.008102907 810 0.0003519993104814815 1.606168 41 57 0.004875728 Mouse Phenotype sacral vertebral transformation 29 1.993147e-9 6.57119947137931e-7 3.754977 30 0.00303859 1245 0.006000589577349398 1.807638 17 21 0.002021643 Mouse Phenotype decreased DN4 thymocyte number 30 2.469622e-9 7.870685313999999e-7 2.40575 59 0.005975894 2039 0.0485650502648357 1.645342 14 19 0.001664883 Mouse Phenotype ectopic thymus 32 2.543053e-9 7.5981655415625e-7 2.689381 48 0.004861744 804 0.00034479201656716416 2.232965 13 13 0.001545963 Mouse Phenotype ectopic parathyroid gland 39 1.005419e-8 0.000002464823348461538 4.549472 22 0.002228299 1625 0.021226473180923078 2.232965 7 7 0.0008324414 Mouse Phenotype absent segment of posterior cerebral artery 56 5.759609e-8 0.000009833503865892857 2.638143 41 0.00415274 1464 0.013060064770491804 1.725473 17 22 0.002021643 Mouse Phenotype osteosclerosis 65 1.045257e-7 0.000015374926426153848 2.511903 43 0.004355312 1659 0.02271519554068716 1.889432 11 13 0.001308122 Mouse Phenotype abnormal cerebral artery morphology 71 1.514969e-7 0.00002040087128028169 2.391994 46 0.004659171 1205 0.005001851828713693 1.767764 19 24 0.002259484 Mouse Phenotype abnormal sublingual duct morphology 75 1.772924e-7 0.000022601235152 3.279537 27 0.002734731 1908 0.040383684652515725 2.232965 6 6 0.0007135212 Mouse Phenotype decreased white fat cell number 85 3.858184e-7 0.00004339776144 2.514309 39 0.003950167 1305 0.007639817788505748 1.935236 13 15 0.001545963 Mouse Phenotype ectopic cortical neuron 90 4.950405e-7 0.00005258980245 3.188942 26 0.002633445 1231 0.00561411667749797 2.232965 9 9 0.001070282 Mouse Phenotype fusion of vertebral bodies 96 5.861167e-7 0.000058373560090625 3.453525 23 0.002329586 1488 0.013562856786290321 2.029968 10 11 0.001189202 Mouse Phenotype abnormal conotruncus septation 115 0.000001647316 0.00013695641979130435 3.148457 24 0.002430872 1625 0.021226473180923078 2.232965 7 7 0.0008324414 Mouse Phenotype aorta coarctation 127 0.000002910008 0.0002190754841574803 2.554898 32 0.003241163 1692 0.024392105700354612 2.009668 9 10 0.001070282 Mouse Phenotype delayed limb development 133 0.000003359006 0.0002414695967368421 4.669571 14 0.001418009 1411 0.010942655976612332 2.232965 8 8 0.0009513616 Mouse Phenotype abnormal spongiotrophoblast size 145 0.00000520151 0.0003429768076551724 2.090034 46 0.004659171 1673 0.022632881494321574 1.594975 20 28 0.002378404