# 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 embryonic placenta development 148 5.279088e-7 0.00004693751283243243 2.025225 60 0.02206694 270 0.00024257193378518515 2.058875 36 89 0.009758742 GO Biological Process regulation of epithelial cell proliferation involved in lung morphogenesis 153 6.94503e-7 0.00005973179723529411 3.411615 23 0.008458992 372 0.002636188102016129 4.453748 7 8 0.001897533 GO Biological Process positive regulation of epithelial cell proliferation involved in lung morphogenesis 162 0.000001478958 0.00012013338470370372 4.393756 16 0.005884516 598 0.03225396328595318 4.241664 5 6 0.001355381 GO Biological Process embryonic placenta morphogenesis 169 0.000002645874 0.00020601808263905327 2.709457 29 0.01066569 390 0.0036719919571794875 2.740768 14 26 0.003795066 GO Biological Process labyrinthine layer morphogenesis 173 0.000003236632 0.0002461898294104046 2.798106 27 0.009930121 318 0.0010867447049056603 3.150951 13 21 0.00352399 GO Biological Process labyrinthine layer development 174 0.000003303164 0.00024980652342528737 2.316823 38 0.01397573 327 0.0014105325259633028 2.332915 22 48 0.005963676 GO Biological Process mammary gland epithelium development 189 0.00000592301 0.0004123856539153439 2.00342 50 0.01838911 455 0.008513274337802199 2.073703 22 54 0.005963676 GO Biological Process prostate gland morphogenetic growth 208 0.00001652489 0.0010454376322596155 3.44388 17 0.006252299 603 0.03246890504145937 5.089997 4 4 0.001084305 GO Biological Process positive regulation of heart growth 209 0.00001652831 0.0010406508674162679 2.152117 38 0.01397573 370 0.0024702074799999997 2.544999 17 34 0.004608295 GO Biological Process potassium ion export 242 0.00005189991 0.0028221112218595043 4.480776 11 0.004045605 447 0.008183390749888143 3.958887 7 9 0.001897533 GO Biological Process cardiac muscle cell development 243 0.00005230477 0.002832421680781893 2.082241 36 0.01324016 532 0.020713240557518796 2.057658 19 47 0.005150447 GO Biological Process intestinal epithelial cell development 301 0.000115049 0.005029667079734219 3.553964 13 0.00478117 630 0.03664756435238095 3.239089 7 11 0.001897533 GO Biological Process positive regulation of sprouting angiogenesis 307 0.0001286251 0.005513282380781759 2.801382 18 0.006620081 335 0.0016060425945970149 3.214735 12 19 0.003252914 GO Biological Process positive regulation of cardiac muscle tissue growth 310 0.0001333215 0.00565928264032258 2.080668 32 0.01176903 697 0.04938680313055954 2.205665 13 30 0.00352399 GO Biological Process regulation of transcription initiation from RNA polymerase II promoter 334 0.0001815863 0.007154174017065869 2.636709 19 0.006987863 497 0.013203097212273642 2.544999 13 26 0.00352399 GO Biological Process regulation of DNA-templated transcription, initiation 378 0.0003123108 0.010872216447619047 2.159328 26 0.009562339 476 0.01161230883277311 2.326856 16 35 0.004337219 GO Biological Process negative regulation of voltage-gated potassium channel activity 391 0.0003564006 0.011994566484398977 3.575423 11 0.004045605 372 0.002636188102016129 4.453748 7 8 0.001897533 GO Biological Process branching involved in salivary gland morphogenesis 400 0.0003974511 0.01307514756225 2.201504 24 0.008826775 367 0.002260461983896458 3.293528 11 17 0.002981838 GO Biological Process blastoderm segmentation 409 0.0004458656 0.014345098851833741 2.383648 20 0.007355645 528 0.019462878763636362 2.827776 10 18 0.002710762 GO Biological Process prostate gland growth 450 0.0006482206 0.01895541083422222 2.311284 20 0.007355645 630 0.03664756435238095 3.239089 7 11 0.001897533 GO Cellular Component transcriptional repressor complex 34 0.000001185595 0.000060256122352941174 2.091543 52 0.01912468 29 0.007902745820689654 1.901083 31 83 0.008403361 GO Molecular Function repressing transcription factor binding 63 0.00003894705 0.0026100705571428574 2.00278 41 0.01507907 37 0.0008176796466486487 2.290499 27 60 0.007319057 GO Molecular Function phosphatidylinositol-3-phosphate binding 77 0.0001403394 0.007694973335064935 2.321113 25 0.009194557 65 0.018090120316923076 2.395293 16 34 0.004337219 Human Phenotype Gonadal neoplasm 29 0.000002037581 0.00046885441424137926 2.593913 32 0.01176903 18 0.024746231051666664 2.726784 15 28 0.004066143 Human Phenotype Abnormality of the incisor 159 0.0002726735 0.011443712361635218 2.048695 30 0.01103347 9 0.017344735934444445 2.808274 16 29 0.004337219 Human Phenotype Abnormality of the 5th toe 266 0.001579874 0.03963345564661654 2.142153 20 0.007355645 8 0.015311757363750001 3.393332 12 18 0.003252914 Mouse Phenotype Single KO increased trophoblast giant cell number 16 2.368973e-9 0.0000013557928600625 4.71292 23 0.008458992 476 0.013086990102310925 3.053998 9 15 0.002439686 Mouse Phenotype Single KO abnormal trophoblast giant cell morphology 44 1.34714e-7 0.000028035820409090908 2.296672 50 0.01838911 585 0.02735227205982906 1.717108 28 83 0.007590133 Mouse Phenotype Single KO absent B cells 45 1.452876e-7 0.00002956441229333333 2.647877 38 0.01397573 280 0.001848364323607143 2.323694 21 46 0.0056926 Mouse Phenotype Single KO abnormal mural trophectoderm morphology 50 1.803594e-7 0.000033031020516 2.273725 50 0.01838911 620 0.031570323051612906 1.696666 28 84 0.007590133 Mouse Phenotype Single KO arrest of tooth development 81 0.000001481129 0.0001674407191728395 3.952331 18 0.006620081 282 0.0018611397928723404 5.089997 6 6 0.001626457 Mouse Phenotype Single KO abnormal fourth ventricle morphology 92 0.000003242854 0.00032276971823913043 2.797806 27 0.009930121 394 0.006752092906598985 2.776362 12 22 0.003252914 Mouse Phenotype Single KO shortened head 97 0.000004316051 0.0004074441134742268 2.234238 40 0.01471129 438 0.010068537537214612 2.45724 14 29 0.003795066 Mouse Phenotype Single KO abnormal pharyngeal arch artery morphology 101 0.000005413679 0.0004908223624059407 2.099726 45 0.0165502 154 0.00008242007586363636 2.66068 23 44 0.006234752 Mouse Phenotype Single KO abnormal liver sinusoid morphology 105 0.000006372194 0.0005557160043619048 2.340392 35 0.01287238 535 0.01940447033084112 1.850908 24 66 0.006505828 Mouse Phenotype Single KO decreased CD5-positive Ly6C-positive T cell number 108 0.000007452335 0.0006318614036574075 8.355802 8 0.002942258 568 0.023986503556338027 5.089997 4 4 0.001084305 Mouse Phenotype Single KO absent mature B cells 126 0.0000157916 0.0011476482634920635 2.610506 26 0.009562339 559 0.023523333756708405 2.181427 15 35 0.004066143 Mouse Phenotype Single KO arrested B cell differentiation 134 0.00002235471 0.0015276274587313432 2.230264 34 0.0125046 288 0.0019368390395833332 2.367441 20 43 0.005421523 Mouse Phenotype Single KO abnormal sixth pharyngeal arch artery morphology 144 0.00003111429 0.0019785663439583333 2.684643 23 0.008458992 422 0.009137933042890995 2.994116 10 17 0.002710762 Mouse Phenotype Single KO increased hemangiosarcoma incidence 156 0.00003791126 0.002225342357820513 3.218879 17 0.006252299 702 0.042438586089743595 2.332915 11 24 0.002981838 Mouse Phenotype Single KO abnormal Mullerian duct morphology 185 0.00006442702 0.0031889633629189193 2.443226 25 0.009194557 250 0.00095524395508 2.617713 18 35 0.004879371 Mouse Phenotype Single KO small scapula 220 0.0001120396 0.004663393714545455 2.269084 27 0.009930121 370 0.005209276232702702 3.181248 10 16 0.002710762 Mouse Phenotype Single KO abnormal Mullerian duct topology 222 0.000114176 0.004709502846846846 4.092453 11 0.004045605 306 0.002230120019117647 4.453748 7 8 0.001897533 Mouse Phenotype Single KO abnormal neurotransmitter uptake 223 0.0001153331 0.004735897743049327 6.630472 7 0.002574476 405 0.007545741062962963 4.362855 6 7 0.001626457 Mouse Phenotype Single KO vacuolated lens 273 0.0002238468 0.007508297243956044 2.998101 15 0.005516734 719 0.04750300093463143 2.544999 9 18 0.002439686 Mouse Phenotype Single KO increased respiratory quotient 281 0.0002326809 0.007582416374733097 2.335259 23 0.008458992 739 0.04938000846143437 1.869795 18 49 0.004879371 Mouse Phenotype increased trophoblast giant cell number 59 1.872937e-8 0.0000030351102808474577 3.909205 25 0.009194557 719 0.018077404235048677 2.678946 10 19 0.002710762 Mouse Phenotype abnormal trophoblast giant cell morphology 85 1.286769e-7 0.00001447388048117647 2.181466 56 0.02059581 551 0.005500210782032668 1.786914 33 94 0.008945514 Mouse Phenotype absent B cells 86 1.307297e-7 0.000014533798391860465 2.277212 51 0.0187569 276 0.00009433329472826087 2.181427 33 77 0.008945514 Mouse Phenotype abnormal mural trophectoderm morphology 93 1.679997e-7 0.000017271453029032258 2.162953 56 0.02059581 574 0.0065834547480836236 1.768104 33 95 0.008945514 Mouse Phenotype abnormal metopic suture morphology 118 4.684662e-7 0.000037957672357627116 4.29261 18 0.006620081 963 0.042650231031152654 3.635712 5 7 0.001355381 Mouse Phenotype abnormal liver sinusoid morphology 131 9.339659e-7 0.00006816525167862596 2.251051 45 0.0165502 384 0.000829422725625 2.022948 31 78 0.008403361 Mouse Phenotype aerophagia 149 0.00000178156 0.00011431875946308724 4.329383 16 0.005884516 733 0.019118804304229197 4.241664 5 6 0.001355381 Mouse Phenotype arrest of tooth development 165 0.000002827504 0.00016384100450909093 3.131679 23 0.008458992 199 0.000020786608536180902 5.089997 9 9 0.002439686 Mouse Phenotype abnormal mammary gland bud morphology 169 0.000003072299 0.00017381213455029587 3.746724 18 0.006620081 733 0.019118804304229197 4.241664 5 6 0.001355381 Mouse Phenotype abnormal fourth ventricle morphology 172 0.000003165364 0.0001759537511860465 2.63155 30 0.01103347 592 0.007778017238006756 2.45724 14 29 0.003795066 Mouse Phenotype progressive hair loss 176 0.000003438957 0.00018681743111931818 3.093772 23 0.008458992 662 0.011878684609667674 2.666189 11 21 0.002981838 Mouse Phenotype shortened head 192 0.000006515945 0.000324473698671875 2.124861 43 0.01581464 926 0.03902504903455723 2.009209 15 38 0.004066143 Mouse Phenotype decreased CD5-positive Ly6C-positive T cell number 198 0.000007452335 0.00035985744916666664 8.355802 8 0.002942258 737 0.019301803880597015 5.089997 4 4 0.001084305 Mouse Phenotype absent pubis 214 0.000009951366 0.0004446028519906542 3.586099 17 0.006252299 539 0.005180603903153989 5.089997 5 5 0.001355381 Mouse Phenotype arrested B cell differentiation 220 0.00001160083 0.000504161525590909 2.034768 45 0.0165502 476 0.0024742582487394956 1.979443 28 72 0.007590133 Mouse Phenotype enlarged liver sinusoidal spaces 225 0.00001367577 0.0005811290532 2.525981 28 0.0102979 562 0.005887022430427046 2.234633 18 41 0.004879371 Mouse Phenotype increased brain size 246 0.00002096573 0.0008148509940243902 2.002193 44 0.01618242 645 0.011117827265116278 1.871323 25 68 0.006776904 Mouse Phenotype abnormal kidney medulla development 247 0.00002329559 0.0009017373926720648 5.427875 10 0.003677823 963 0.042650231031152654 3.635712 5 7 0.001355381 Mouse Phenotype absent mature B cells 264 0.00003115685 0.001128373647159091 2.137311 36 0.01324016 498 0.003136722195180723 2.070507 24 59 0.006505828 Mouse Phenotype abnormal metacarpal bone morphology 269 0.00003500098 0.0012440311144237917 2.012706 41 0.01507907 123 7.468148402926828e-7 3.007726 26 44 0.00704798