# 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 stem cell division 133 8.673542e-16 8.581589411879699e-14 2.146314 138 0.01110932 263 0.000004109606734904943 1.964553 30 33 0.003452641 GO Biological Process cell proliferation in forebrain 155 4.060085e-14 3.446881194516129e-12 2.080363 131 0.01054581 483 0.0009171850244306418 1.840859 23 27 0.002647025 GO Biological Process placenta blood vessel development 174 5.670738e-13 4.28857708862069e-11 2.349063 91 0.007325712 805 0.024485400831055902 1.603329 23 31 0.002647025 GO Biological Process thyroid gland development 183 1.406146e-12 1.0111188641530053e-10 2.717886 67 0.005393656 605 0.004587216524793388 1.80084 20 24 0.002301761 GO Biological Process cranial nerve morphogenesis 189 2.188985e-12 1.5240663288359789e-10 2.127818 107 0.00861375 837 0.030214416059737157 1.620756 21 28 0.002416849 GO Biological Process somatic stem cell division 209 1.61874e-11 1.0191865866028707e-9 2.095411 102 0.008211238 425 0.00044969907185882354 1.964553 20 22 0.002301761 GO Biological Process regulation of epithelial cell proliferation involved in lung morphogenesis 298 4.781731e-9 2.1115032962751675e-7 2.207795 68 0.005474159 851 0.032455614285546414 2.161008 8 8 0.0009207043 GO Biological Process neuroblast division 334 2.109465e-8 8.310913154191616e-7 2.122065 68 0.005474159 900 0.04210646062222222 1.852293 12 14 0.001381057 GO Biological Process negative regulation of pri-miRNA transcription from RNA polymerase II promoter 604 0.000006430436 0.00014009620417880793 2.020182 49 0.003944614 892 0.04222715723878923 1.964553 10 11 0.00115088 GO Biological Process positive regulation of T cell mediated cytotoxicity 709 0.00002293716 0.0004257123955430183 2.413181 29 0.002334568 900 0.04210646062222222 1.852293 12 14 0.001381057 GO Biological Process Bergmann glial cell differentiation 719 0.00002461653 0.0004505270073296244 2.54673 26 0.002093061 851 0.032455614285546414 2.161008 8 8 0.0009207043 GO Biological Process negative regulation of erythrocyte differentiation 742 0.00003134898 0.0005559585280592991 2.259754 32 0.002576075 851 0.032455614285546414 2.161008 8 8 0.0009207043 GO Biological Process trachea cartilage development 864 0.00008126677 0.001237719243553241 2.116209 33 0.002656577 851 0.032455614285546414 2.161008 8 8 0.0009207043 GO Molecular Function HMG box domain binding 42 5.265754e-13 5.293336520952381e-11 2.352339 91 0.007325712 77 0.0011280246387012987 2.040952 17 18 0.001956497 Human Phenotype Hamartoma 39 4.092865e-12 7.00299696025641e-10 2.337199 85 0.006842698 214 0.026573772525700933 1.680784 21 27 0.002416849 Human Phenotype Down-sloping shoulders 108 7.115454e-9 4.3964281983333335e-7 2.060264 78 0.006279182 178 0.015569342380337076 1.906772 15 17 0.001726321 Human Phenotype Thoracic scoliosis 674 0.0005738118 0.005681077361127596 2.074497 26 0.002093061 183 0.016371818976502733 2.161008 10 10 0.00115088 Mouse Phenotype Single KO vertebral transformation 11 3.95339e-25 3.2910174754545457e-22 2.261258 204 0.01642248 189 0.0000030273923785185185 1.597267 68 92 0.007825987 Mouse Phenotype Single KO abnormal sternebra number 12 2.582755e-24 1.970857294583333e-21 6.537749 50 0.004025117 635 0.010316988571338583 1.994777 12 13 0.001381057 Mouse Phenotype Single KO thoracic vertebral transformation 19 1.005341e-21 4.845214493157895e-19 2.845113 114 0.009177266 282 0.00010116988057801419 1.710798 38 48 0.004373346 Mouse Phenotype Single KO abnormal sternebra morphology 21 4.190807e-21 1.8273914142380953e-18 2.094005 201 0.01618097 191 0.000003277937043089005 1.808191 41 49 0.00471861 Mouse Phenotype Single KO cervical vertebral transformation 22 1.949114e-20 8.112744044545455e-18 2.944976 101 0.008130736 260 0.00005269525961153846 1.819796 32 38 0.003682817 Mouse Phenotype Single KO increased sternebra number 34 6.373207e-19 1.716454602911765e-16 6.561232 38 0.003059089 964 0.043103965285269705 2.161008 7 7 0.0008056163 Mouse Phenotype Single KO abnormal rib development 41 4.376976e-17 9.775602251707318e-15 2.944543 83 0.006681694 838 0.028242690330548926 1.779654 14 17 0.001611233 Mouse Phenotype Single KO abnormal interventricular septum thickness 61 4.048587e-15 6.077526419508198e-13 2.340609 109 0.008774754 949 0.03977534484720758 1.457424 29 43 0.003337553 Mouse Phenotype Single KO absent corpus callosum 63 6.513709e-15 9.467624335396825e-13 2.013545 151 0.01215585 412 0.0011652938158980583 1.755819 26 32 0.002992289 Mouse Phenotype Single KO lumbar vertebral transformation 76 4.746481e-14 5.718885068026316e-12 2.73902 75 0.006037675 765 0.020821785096732028 1.535453 27 38 0.003107377 Mouse Phenotype Single KO abnormal thyroid cartilage morphology 89 6.761584e-13 6.956834234606741e-11 2.341288 91 0.007325712 724 0.017940143973756907 1.80084 15 18 0.001726321 Mouse Phenotype Single KO abnormal fourth pharyngeal arch morphology 110 5.198549e-12 4.3275557448181813e-10 2.148403 101 0.008130736 709 0.015982813781382228 1.749388 17 21 0.001956497 Mouse Phenotype Single KO abnormal facial nerve morphology 143 1.089799e-10 6.978524086013986e-9 2.038197 100 0.008050233 601 0.007552091767221298 1.697935 22 28 0.002531937 Mouse Phenotype Single KO abnormal fourth pharyngeal arch artery morphology 147 1.36591e-10 8.50859719047619e-9 2.161884 86 0.006923201 988 0.043201437717611334 1.755819 13 16 0.001496145 Mouse Phenotype Single KO abnormal metanephros morphology 156 2.433485e-10 1.4284244964743588e-8 2.104397 89 0.007164708 579 0.006577938066839379 1.836857 17 20 0.001956497 Mouse Phenotype Single KO fusion of atlas and odontoid process 191 8.897155e-10 4.265510384031413e-8 2.818683 47 0.00378361 1058 0.04904861365406427 1.944907 9 10 0.001035792 Mouse Phenotype Single KO small basisphenoid bone 192 9.179147e-10 4.377783806197917e-8 2.304023 68 0.005474159 1029 0.048013390210884355 1.828545 11 13 0.001265968 Mouse Phenotype Single KO abnormal odontoid process morphology 236 4.010887e-9 1.5562581465677964e-7 2.353789 60 0.00483014 576 0.006602370283506944 1.906772 15 17 0.001726321 Mouse Phenotype Single KO increased cochlear inner hair cell number 253 7.974311e-9 2.8861962777470356e-7 2.150542 70 0.005635163 635 0.010316988571338583 1.994777 12 13 0.001381057 Mouse Phenotype Single KO abnormal forelimb bud morphology 267 1.147307e-8 3.93479033670412e-7 2.216414 64 0.005152149 676 0.013150179412573966 2.161008 9 9 0.001035792 Mouse Phenotype abnormal sternebra morphology 25 4.215541e-26 1.6121915000399998e-23 2.120719 245 0.01972307 261 3.228983779655172e-7 1.755819 52 64 0.005984578 Mouse Phenotype abnormal rib development 28 1.374137e-25 4.692187091785715e-23 3.174885 115 0.009257768 1199 0.014958826418682234 1.571642 24 33 0.002762113 Mouse Phenotype abnormal sternebra number 32 2.582755e-24 7.716787673437499e-22 6.537749 50 0.004025117 993 0.006888545482779457 1.994777 12 13 0.001381057 Mouse Phenotype thoracic vertebral transformation 35 4.364357e-24 1.1922176364857142e-21 2.784355 132 0.01062631 307 0.000002981395106970684 1.743972 46 57 0.00529405 Mouse Phenotype sacral vertebral transformation 45 1.515037e-21 3.2189486126666667e-19 5.272536 53 0.004266624 1487 0.0337529083194351 1.646482 16 21 0.001841409 Mouse Phenotype cervical vertebral transformation 60 2.694734e-19 4.294058629e-17 2.585255 118 0.009499275 301 0.0000021581359195016613 1.859472 37 43 0.004258258 Mouse Phenotype increased sternebra number 63 6.373207e-19 9.672100337619047e-17 6.561232 38 0.003059089 1421 0.030531650636875438 2.161008 7 7 0.0008056163 Mouse Phenotype abnormal laryngeal cartilage morphology 77 6.38564e-18 7.92897455064935e-16 2.069567 173 0.0139269 480 0.00018073636349999998 1.79055 29 35 0.003337553 Mouse Phenotype abnormal thyroid cartilage morphology 84 1.939661e-17 2.207749859642857e-15 2.356515 126 0.01014329 863 0.0037277785060254925 1.74543 21 26 0.002416849 Mouse Phenotype cervical vertebral fusion 107 6.813697e-16 6.088388506261683e-14 2.066686 152 0.01223635 637 0.0007265186263422292 1.620756 36 48 0.00414317 Mouse Phenotype increased trophoblast giant cell number 114 9.010219e-16 7.556728408684211e-14 2.806596 82 0.006601191 1380 0.026640978247826085 1.706059 15 19 0.001726321 Mouse Phenotype abnormal ureter development 122 1.976547e-15 1.5489972022131146e-13 2.178811 130 0.0104653 740 0.0014877872099999998 1.815247 21 25 0.002416849 Mouse Phenotype abnormal paraxial mesoderm morphology 128 4.382272e-15 3.273351765e-13 2.087339 140 0.01127033 796 0.0024088194798994973 1.555926 36 50 0.00414317 Mouse Phenotype abnormal pharyngeal pouch morphology 140 1.562022e-14 1.0667494529999999e-12 2.62241 84 0.006762196 903 0.004403831540531562 1.836857 17 20 0.001956497 Mouse Phenotype small scala media 153 6.429826e-14 4.018010874901961e-12 3.034987 63 0.005071647 1525 0.035529791972459014 1.944907 9 10 0.001035792 Mouse Phenotype small xiphoid process 161 1.769742e-13 1.0509629355279503e-11 6.023474 28 0.002254065 1217 0.016489566806080526 2.161008 8 8 0.0009207043 Mouse Phenotype abnormal metanephros morphology 173 5.223188e-13 2.8866416455491326e-11 2.171706 108 0.008694252 602 0.0005346727196013289 1.840859 23 27 0.002647025 Mouse Phenotype abnormal thyroid gland development 229 3.1912e-11 1.3323608384279478e-9 2.82728 55 0.004427628 1149 0.012668632882506527 1.872874 13 15 0.001496145 Mouse Phenotype small basisphenoid bone 259 1.029903e-10 3.80189288918919e-9 2.302421 76 0.006118177 1272 0.01942732812971698 1.779654 14 17 0.001611233 Mouse Phenotype abnormal cricoid cartilage morphology 301 4.367567e-10 1.3873192055481726e-8 2.175935 80 0.006440187 901 0.0044070469155382905 1.906772 15 17 0.001726321