# 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 mitotic spindle organization 276 9.980944e-9 4.758668191884058e-7 2.12177 71 0.01147011 630 0.04270172783015873 1.562304 33 70 0.005824215 GO Biological Process microtubule cytoskeleton organization involved in mitosis 283 1.104664e-8 5.136492429681979e-7 2.103609 72 0.01163166 608 0.03680546328289474 1.564934 34 72 0.006000706 GO Biological Process positive regulation of glucose import 314 4.004128e-8 0.0000016780356800000001 2.215699 59 0.009531502 461 0.011616028752711496 1.849662 24 43 0.004235792 GO Biological Process positive regulation of glucose import in response to insulin stimulus 319 4.393982e-8 0.0000018125520105956111 2.881085 36 0.005815832 428 0.008635400054439253 2.485484 12 16 0.002117896 GO Biological Process positive regulation of glucose transport 338 6.312949e-8 0.0000024577543163017753 2.153332 61 0.009854604 532 0.02020680951672932 1.762754 25 47 0.004412284 GO Biological Process histone H3-K9 trimethylation 371 1.999742e-7 0.000007092885438814016 6.515839 13 0.002100162 659 0.04989463485128983 3.313978 5 5 0.0008824568 GO Biological Process paraxial mesoderm development 392 3.835988e-7 0.000012876981145918366 2.479396 40 0.006462036 510 0.01785269661098039 2.339279 12 17 0.002117896 GO Biological Process cellular response to dexamethasone stimulus 428 6.970579e-7 0.000021431273145093456 2.193882 49 0.007915994 337 0.002484418809525223 2.083072 22 35 0.00388281 GO Biological Process regulation of glucose import in response to insulin stimulus 496 0.000002349909 0.00006234365429637097 2.357218 38 0.006138934 582 0.030534261171821304 2.154086 13 20 0.002294388 GO Biological Process response to arsenic-containing substance 613 0.00001376316 0.0002954476711908646 2.397077 31 0.005008078 583 0.03068333460891938 1.942677 17 29 0.003000353 GO Biological Process paraxial mesoderm morphogenesis 730 0.0000383977 0.0006921579921917809 2.267098 31 0.005008078 602 0.036168626299003324 2.651182 8 10 0.001411931 GO Biological Process positive regulation of core promoter binding 1108 0.0008352539 0.009919770821389891 2.213828 21 0.003392569 521 0.019031990511708254 3.313978 6 6 0.001058948 GO Biological Process response to fluoride 1365 0.002581512 0.02488653216703297 2.641579 12 0.001938611 659 0.04989463485128983 3.313978 5 5 0.0008824568 GO Biological Process forebrain neuroblast division 1485 0.003960757 0.03509737465521885 2.109817 17 0.002746365 578 0.030465316110726646 2.899731 7 8 0.001235439 GO Cellular Component voltage-gated calcium channel complex 87 2.127763e-7 0.000004226177544827586 2.035317 64 0.01033926 76 0.04878628294736843 1.735893 22 42 0.00388281 GO Cellular Component pore complex 258 0.003654906 0.02447937041860465 2.127369 17 0.002746365 69 0.03770383304347826 2.209319 12 18 0.002117896 GO Molecular Function RNA stem-loop binding 187 0.0002259694 0.00510183319144385 2.520211 20 0.003231018 85 0.03395850960941177 2.549214 10 13 0.001764914 Human Phenotype Prominent forehead 5 5.843341e-19 7.798522898600001e-16 2.209588 157 0.02536349 206 0.03600880372815534 1.503248 44 97 0.007765619 Human Phenotype Hirsutism 72 2.28798e-11 2.1205125749999997e-9 2.022028 109 0.01760905 65 0.00288974265 1.770481 39 73 0.006883163 Human Phenotype Broad palm 97 1.552462e-10 1.0679978274226804e-8 2.936356 48 0.007754443 147 0.012942038369387754 2.393429 13 18 0.002294388 Human Phenotype Prominent supraorbital ridges 217 3.408788e-7 0.000010482415817511522 2.171945 53 0.008562197 51 0.0020866130807843134 2.616299 15 19 0.00264737 Human Phenotype Increased hemoglobin 269 0.000001911012 0.000047405885040892195 4.310336 16 0.002584814 185 0.02717993697405405 3.313978 6 6 0.001058948 Human Phenotype Low posterior hairline 316 0.000006415518 0.00013547706206962025 2.070989 46 0.007431341 227 0.04646039504405286 1.851929 19 34 0.003353336 Human Phenotype Aplasia/Hypoplasia of the nipples 364 0.00001773462 0.00032511845950549447 2.080423 41 0.006623586 143 0.012942176172027973 2.319785 14 20 0.002470879 Human Phenotype Atlantoaxial abnormality 375 0.00002167411 0.00038568356274666665 4.534922 12 0.001938611 185 0.02717993697405405 3.313978 6 6 0.001058948 Human Phenotype Laryngomalacia 388 0.00002562791 0.00044076042121134017 2.879949 21 0.003392569 242 0.04808056431404959 2.367127 10 14 0.001764914 Human Phenotype Macrocytic anemia 394 0.0000280929 0.0004757967555837564 2.058014 40 0.006462036 145 0.012888604967586207 2.008472 20 33 0.003529827 Human Phenotype Heterotopia 591 0.0004125861 0.00465852291928934 2.121481 26 0.004200323 78 0.003926121146923077 2.485484 15 20 0.00264737 Human Phenotype Aplasia/Hypoplasia involving the carpal bones 618 0.0006205783 0.006700839799190939 2.527252 17 0.002746365 242 0.04808056431404959 2.367127 10 14 0.001764914 Human Phenotype Syringomyelia 745 0.001538185 0.013777595308724834 2.255917 18 0.002907916 217 0.04115020766820277 2.899731 7 8 0.001235439 Mouse Phenotype Single KO abnormal cortical plate morphology 162 0.000001197661 0.00006769741837654321 2.2833 43 0.006946688 109 0.0005849367266422018 2.560801 17 22 0.003000353 Mouse Phenotype abnormal interventricular septum thickness 52 7.757432e-13 1.4263232183076925e-10 2.179281 105 0.01696284 466 0.013610707221888412 1.632975 34 69 0.006000706 Mouse Phenotype decreased epididymis weight 229 6.738368e-7 0.000028133422029694323 2.015726 60 0.009693053 525 0.020933053725714284 1.924245 18 31 0.003176844 Mouse Phenotype abnormal cardiac stroke volume 239 0.000001019231 0.00004077350456485355 2.144516 50 0.008077544 233 0.0013560234990128755 2.144339 22 34 0.00388281 Mouse Phenotype translucent skin 284 0.000004461478 0.00015019785619014087 2.064356 48 0.007754443 458 0.01254134949235808 2.209319 14 21 0.002470879 Mouse Phenotype absent sternum 303 0.000007609677 0.00024011921385148514 2.183948 40 0.006462036 315 0.004567529483809524 2.98258 9 10 0.001588422 Mouse Phenotype enlarged mitral valve 355 0.00001873189 0.0005044946487042253 3.576439 16 0.002584814 356 0.006102128309831461 3.313978 7 7 0.001235439 Mouse Phenotype decreased cardiac stroke volume 368 0.00002261602 0.0005875863239673913 2.264492 33 0.005331179 368 0.006802518997010869 2.259531 15 22 0.00264737 Mouse Phenotype abnormal thymocyte activation 385 0.00003073855 0.0007633539650649351 2.142798 36 0.005815832 575 0.026663284476521738 1.963839 16 27 0.002823862 Mouse Phenotype absent second pharyngeal arch 400 0.00003489394 0.00083405240085 2.245193 32 0.005169628 695 0.04664996241582735 2.144339 11 17 0.001941405 Mouse Phenotype absent zygomatic arch 791 0.001492183 0.018036361141592922 2.26233 18 0.002907916 638 0.03744544669749217 3.313978 5 5 0.0008824568