# 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 labyrinthine layer morphogenesis 165 0.00001020281 0.0008136895563030304 2.569141 28 0.009117551 409 0.0019403634014914426 2.924977 13 21 0.003271263 GO Biological Process labyrinthine layer development 182 0.00002095436 0.0015150462815384617 2.105248 39 0.01269945 771 0.04819339530090791 1.870298 19 48 0.004781077 GO Biological Process embryonic placenta morphogenesis 187 0.00002460002 0.0017310784127272728 2.398898 29 0.009443178 490 0.006749140994081633 2.54421 14 26 0.003522899 GO Biological Process positive regulation of microtubule motor activity 199 0.00003541974 0.002342152556080402 5.161907 10 0.003256268 708 0.038932518495762715 3.937469 5 6 0.001258178 GO Biological Process apical junction assembly 250 0.0001481894 0.007800097258399999 2.126508 30 0.009768805 497 0.007321376354527163 2.189617 19 41 0.004781077 GO Biological Process chorio-allantoic fusion 389 0.001139902 0.03856033526478149 2.653485 14 0.004558776 541 0.012491741406099816 4.049968 6 7 0.001509814 GO Molecular Function DNA binding, bending 68 0.0001883775 0.011696026544117647 2.629474 19 0.00618691 77 0.028305658779220776 2.735504 11 19 0.002767992 Human Phenotype Hypotelorism 12 0.000009469046 0.0052655786631666665 2.183699 39 0.01269945 217 0.029083879960368663 2.113799 17 38 0.004277806 Human Phenotype Intestinal malrotation 70 0.0002936589 0.027994083424285717 2.068776 29 0.009443178 247 0.036450546570850194 2.059599 17 39 0.004277806 Human Phenotype Abnormality of the diaphragm 73 0.0003167578 0.02895513423835616 2.003849 31 0.01009443 210 0.02819446408142857 2.074374 18 41 0.004529441 Mouse Phenotype Single KO dilated lateral ventricles 55 3.796482e-7 0.00006320797395272729 2.443708 41 0.0133507 803 0.04231163472478207 1.832128 19 49 0.004781077 Mouse Phenotype Single KO dilated brain ventricles 60 5.854369e-7 0.00008934742822166666 2.110294 54 0.01758385 535 0.011332258186915889 1.822485 27 70 0.006794162 Mouse Phenotype Single KO abnormal proerythroblast morphology 80 0.000005779439 0.0006615290365375 2.158865 42 0.01367633 486 0.008047246966255145 1.975893 23 55 0.00578762 Mouse Phenotype Single KO dilated vasculature 91 0.00001471403 0.0014806194803296702 2.516315 28 0.009117551 437 0.0059329229757437065 2.362481 16 32 0.00402617 Mouse Phenotype Single KO cervical vertebral fusion 99 0.00002473109 0.0022875009205050507 2.16281 36 0.01172257 309 0.0014885980738511327 2.362481 20 40 0.005032713 Mouse Phenotype Single KO abnormal odontoid process morphology 109 0.00003292195 0.002765745836238532 3.01496 19 0.00618691 552 0.0130934367067029 2.77939 10 17 0.002516356 Mouse Phenotype Single KO persistence of hyaloid vascular system 151 0.0001352816 0.008203798749668874 2.004756 35 0.01139694 555 0.013613277973693695 2.040325 19 44 0.004781077 Mouse Phenotype Single KO dilated proximal convoluted tubules 155 0.0001441093 0.008513605549032258 2.365208 24 0.007815044 734 0.03190348701907357 2.362481 11 22 0.002767992 Mouse Phenotype Single KO dilated third ventricle 163 0.0001666684 0.009363083060122698 2.142988 29 0.009443178 418 0.005505523572488039 2.54421 14 26 0.003522899 Mouse Phenotype Single KO small otic vesicle 255 0.0007206545 0.02587856179019608 2.291449 20 0.006512537 778 0.04103084567095116 2.699978 8 14 0.002013085 Mouse Phenotype Single KO abnormal head fold morphology 258 0.0007562709 0.02684175438488372 2.772723 14 0.004558776 423 0.005651046637825058 3.271128 9 13 0.002264721 Mouse Phenotype Single KO abnormal iridocorneal angle 260 0.0007657655 0.026969671859615386 2.337906 19 0.00618691 338 0.0024037265876923077 2.984187 12 19 0.003019628 Mouse Phenotype Single KO abnormal iris stroma morphology 306 0.001421878 0.04254946681699346 2.408649 16 0.005210029 238 0.0002635713559453782 4.252466 9 10 0.002264721 Mouse Phenotype Single KO abnormal aqueous drainage system morphology 307 0.001423514 0.04245966676872964 2.213357 19 0.00618691 389 0.004214691683804627 2.834977 12 20 0.003019628 Mouse Phenotype Single KO abnormal fetal cardiomyocyte morphology 319 0.001568079 0.0450122238338558 2.098855 21 0.006838163 730 0.03197709698082192 2.267982 12 25 0.003019628 Mouse Phenotype Single KO abnormal cortical plate morphology 325 0.00159674 0.04498876363076923 2.140599 20 0.006512537 270 0.0006712657551851852 3.006794 14 22 0.003522899 Mouse Phenotype abnormal epidermis stratum spinosum morphology 77 0.000001098014 0.000136339114987013 2.261918 44 0.01432758 696 0.0064069689655172415 1.794289 30 79 0.007549069 Mouse Phenotype abnormal mesenchymal cell proliferation involved in lung development 83 0.000002025855 0.00023336385126506028 2.872808 27 0.008791924 778 0.009699810235604112 2.77939 10 17 0.002516356 Mouse Phenotype decreased mesenchymal cell proliferation involved in lung development 101 0.000005106596 0.00048340756788118813 3.460084 19 0.00618691 839 0.014059604342073897 3.307474 7 10 0.001761449 Mouse Phenotype dilated vasculature 115 0.00000714025 0.0005936341760869565 2.238506 38 0.01237382 511 0.0021358057825831703 2.165608 22 48 0.005535984 Mouse Phenotype dilated lateral ventricles 116 0.000007318981 0.000603248080525862 2.056093 46 0.01497883 833 0.013964557861944778 1.829018 24 62 0.006039255 Mouse Phenotype cervical vertebral fusion 150 0.00003086173 0.0019671266701999997 2.089903 38 0.01237382 511 0.0021358057825831703 2.165608 22 48 0.005535984 Mouse Phenotype abnormal mesangial matrix morphology 199 0.0001146203 0.005506958232663317 2.022723 35 0.01139694 1222 0.04834210599672668 1.76028 19 51 0.004781077 Mouse Phenotype abnormal type I pneumocyte morphology 205 0.0001281818 0.005978274096585366 2.384302 24 0.007815044 977 0.025025902820880245 2.362481 11 22 0.002767992 Mouse Phenotype abnormal cervical atlas morphology 207 0.000132164 0.006104444463768116 2.007282 35 0.01139694 735 0.008308592252244897 1.961305 22 53 0.005535984 Mouse Phenotype dilated third ventricle 219 0.0001666684 0.007276331380821918 2.142988 29 0.009443178 597 0.004024859096984925 2.54421 14 26 0.003522899 Mouse Phenotype decreased type I pneumocyte number 256 0.0003180102 0.01187693563359375 2.518874 19 0.00618691 1033 0.0322656075856728 2.699978 8 14 0.002013085 Mouse Phenotype abnormal odontoid process morphology 269 0.0003801848 0.013512813653531599 2.481646 19 0.00618691 963 0.02448742867601246 2.486822 10 19 0.002516356 Mouse Phenotype abnormal hindbrain size 274 0.0003926908 0.013702615835036496 2.549051 18 0.005861283 1229 0.048980551789259565 2.362481 9 18 0.002264721 Mouse Phenotype anterior iris synechia 281 0.0004153811 0.014133304971886121 2.11827 26 0.008466298 386 0.0004902538981865286 3.006794 14 22 0.003522899 Mouse Phenotype decreased cerebellar granule cell precursor proliferation 286 0.0004383606 0.014654425512587412 2.935565 14 0.004558776 416 0.0007016861568028845 3.865878 9 11 0.002264721 Mouse Phenotype abnormal iris stroma morphology 318 0.0005962186 0.017925930926415097 2.223723 22 0.00716379 439 0.0008823343804100228 3.149975 12 18 0.003019628 Mouse Phenotype ectopic ureteric bud 328 0.0006624432 0.019309815351219513 2.434396 18 0.005861283 1162 0.04477484592857143 2.756228 7 12 0.001761449 Mouse Phenotype abnormal intestine development 345 0.0007952943 0.022040025513913042 2.220784 21 0.006838163 820 0.01227732673902439 2.362481 13 26 0.003271263 Mouse Phenotype short premaxilla 353 0.0008584965 0.02325236554249292 2.20695 21 0.006838163 493 0.0017206991819878296 2.984187 12 19 0.003019628 Mouse Phenotype abnormal head fold morphology 358 0.0008834304 0.023593514118435754 2.37223 18 0.005861283 439 0.0008823343804100228 3.149975 12 18 0.003019628