# 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 mesoderm formation 105 2.621214e-31 3.285005240571429e-29 2.994239 154 0.03059805 287 0.000046886479853658536 2.123594 35 67 0.007577398 GO Biological Process mesoderm morphogenesis 107 1.868482e-30 2.2978836110280376e-28 2.901677 157 0.03119412 277 0.0000355439791732852 2.120956 36 69 0.007793895 GO Biological Process anterior/posterior pattern specification 115 2.482376e-28 2.840485720347826e-26 2.106938 266 0.05285118 116 2.3894962997413792e-9 1.887398 91 196 0.01970123 GO Biological Process mesoderm development 121 1.24257e-26 1.3513205479338841e-24 2.291221 208 0.04132724 292 0.00005109923609931507 1.814206 54 121 0.01169084 GO Biological Process formation of primary germ layer 134 5.523164e-23 5.4238294832835816e-21 2.243948 186 0.03695609 291 0.000049296688955326454 1.838162 52 115 0.01125785 GO Biological Process gastrulation 142 7.229135e-22 6.699168131338028e-20 2.028027 222 0.04410888 199 0.0000011765977679899498 1.826752 71 158 0.01537129 GO Biological Process segmentation 147 2.994979e-21 2.681015555170068e-19 2.296622 163 0.03238625 304 0.00006531551893750001 1.942246 43 90 0.009309374 GO Biological Process mammary gland epithelium development 167 3.20801e-18 2.5277966221556885e-16 2.510974 116 0.02304788 326 0.0001667562972791411 2.183144 29 54 0.006278415 GO Biological Process outflow tract morphogenesis 182 8.195083e-17 5.9252251207142855e-15 2.082534 157 0.03119412 169 1.4711839863905327e-7 2.391274 40 68 0.008659883 GO Biological Process mammary gland epithelial cell differentiation 196 5.931929e-16 3.982563964846939e-14 3.742223 55 0.01092788 819 0.04358321855189255 2.391274 10 17 0.002164971 GO Biological Process positive regulation of stem cell differentiation 199 1.254887e-15 8.298019112060301e-14 3.138667 68 0.01351083 458 0.0024014419363100436 2.869529 12 17 0.002597965 GO Biological Process somitogenesis 206 2.94686e-15 1.882414113592233e-13 2.399746 104 0.02066362 456 0.002391726165131579 1.93262 29 61 0.006278415 GO Biological Process outflow tract septum morphogenesis 207 3.696005e-15 2.349552164009662e-13 2.632362 87 0.01728591 415 0.0010875193718554216 2.601706 16 25 0.003463953 GO Biological Process cardiac septum morphogenesis 214 1.059398e-14 6.514307608411215e-13 2.007901 148 0.02940592 165 1.0710397205454545e-7 2.439099 39 65 0.008443386 GO Biological Process positive regulation of epithelial to mesenchymal transition 233 1.101825e-13 6.222710375536481e-12 2.314574 99 0.01967018 637 0.014936347086813188 1.940193 21 44 0.004546439 GO Biological Process positive regulation of mesonephros development 253 1.295911e-12 6.740273853359684e-11 3.040088 56 0.01112656 799 0.040580923167709636 2.217363 12 22 0.002597965 GO Biological Process positive regulation of stress fiber assembly 261 2.764553e-12 1.3938219512260538e-10 2.692241 66 0.01311345 538 0.006317809559665428 1.989336 23 47 0.004979433 GO Biological Process embryonic pattern specification 270 1.021539e-11 4.978678407777777e-10 2.048782 109 0.02165706 426 0.0013643013349530517 1.938771 31 65 0.006711409 GO Biological Process preganglionic parasympathetic fiber development 287 2.389075e-11 1.095395049651568e-9 3.250727 45 0.008940989 532 0.006007427315977443 2.794801 11 16 0.002381468 GO Biological Process parasympathetic nervous system development 289 2.491198e-11 1.134313995916955e-9 3.060799 49 0.009735744 515 0.00496821749961165 2.71011 12 18 0.002597965 GO Cellular Component neurofilament 86 0.000003565852 0.00007164874716279069 3.003501 24 0.004768528 52 0.011336111999999999 3.55702 7 8 0.00151548 GO Cellular Component compact myelin 146 0.0002884008 0.0034134012493150685 2.471279 20 0.003973773 71 0.046196327661971834 2.613321 9 14 0.001948474 GO Molecular Function repressing transcription factor binding 53 4.919405e-12 3.9188165867924526e-10 2.29589 87 0.01728591 64 0.029134405765625003 1.829325 27 60 0.005845421 GO Molecular Function HMG box domain binding 146 0.00001721559 0.00049783713 2.233013 35 0.006954103 51 0.016096557125490196 2.71011 12 18 0.002597965 GO Molecular Function coreceptor activity involved in Wnt signaling pathway 158 0.00002470263 0.0006600917965822785 2.729247 23 0.004569839 62 0.023230056870967738 3.55702 7 8 0.00151548 Human Phenotype Reduced number of teeth 13 1.04076e-16 5.3423011384615384e-14 2.197375 138 0.02741903 54 0.0014913030475925927 1.820855 43 96 0.009309374 Human Phenotype Abnormal number of teeth 18 1.810786e-15 6.712986098888889e-13 2.00569 157 0.03119412 46 0.0009943933423043477 1.790165 48 109 0.01039186 Human Phenotype Hypodontia 36 1.23035e-13 2.2805904305555553e-11 2.370044 94 0.01867673 174 0.02333312627471264 1.799336 27 61 0.005845421 Human Phenotype Vaginal atresia 108 2.184308e-9 1.349619192962963e-7 3.318132 35 0.006954103 74 0.003026524721891892 3.194059 11 14 0.002381468 Human Phenotype Poor speech 132 1.519544e-8 7.681755387878788e-7 2.279085 59 0.01172263 234 0.04302388232905983 1.825176 22 49 0.004762936 Human Phenotype Abnormality of the vagina 134 1.668719e-8 8.309971557462687e-7 2.056358 74 0.01470296 145 0.015012860175172412 2.032583 21 42 0.004546439 Human Phenotype Renal dysplasia 211 3.404118e-7 0.000010765724840758293 2.044741 61 0.01212001 53 0.0014762766033962265 2.463737 20 33 0.004329942 Human Phenotype Abnormality of the choanae 225 6.306935e-7 0.00001870496766888889 2.018882 60 0.01192132 229 0.04186616888209607 1.890775 20 43 0.004329942 Human Phenotype Abnormality of the lacrimal duct 257 0.000002159352 0.0000560675326692607 2.25314 42 0.008344924 164 0.023925406751219513 2.402143 13 22 0.002814462 Human Phenotype Intestinal malrotation 324 0.00000690363 0.0001421849475 2.045815 47 0.009338367 202 0.0309199632480198 1.980465 19 39 0.004113444 Human Phenotype Abnormality of the nasolacrimal system 325 0.000006977914 0.00014327267729846154 2.122664 43 0.008543612 184 0.027684663149456522 2.276493 14 25 0.003030959 Human Phenotype Mixed hearing impairment 479 0.00006212496 0.0008654694323173278 2.043923 37 0.00735148 122 0.010635214082786885 2.71011 12 18 0.002597965 Human Phenotype Lacrimal duct aplasia 736 0.000809986 0.007343799698369565 2.547828 16 0.003179018 197 0.030461723354314723 4.065166 5 5 0.001082485 Human Phenotype Resting tremor 826 0.001637796 0.013231250251815981 2.092436 21 0.004172462 151 0.01623155103377483 3.252132 8 10 0.001731977 Mouse Phenotype Single KO abnormal long bone hypertrophic chondrocyte zone 69 9.971559e-20 1.3233270400434782e-17 2.187017 167 0.03318101 188 0.000007755263000531914 1.972209 49 101 0.01060836 Mouse Phenotype Single KO abnormal aortic arch morphology 71 1.862041e-19 2.4015083714084507e-17 2.202547 162 0.03218756 480 0.005146789143125 1.641702 42 104 0.009092877 Mouse Phenotype Single KO abnormal truncus arteriosus septation 72 2.081558e-19 2.647337028611111e-17 2.273486 151 0.03000199 243 0.00008454748539506174 2.006186 38 77 0.008226889 Mouse Phenotype Single KO abnormal thoracic aorta morphology 90 6.348288e-18 6.459030357333333e-16 2.089555 167 0.03318101 467 0.004580011787366167 1.612048 46 116 0.009958866 Mouse Phenotype Single KO interrupted aortic arch 117 4.017562e-16 3.1443431823931626e-14 2.798438 84 0.01668985 569 0.010017001622144113 2.032583 19 38 0.004113444 Mouse Phenotype Single KO abnormal fourth pharyngeal arch morphology 124 1.348829e-15 9.960667058870968e-14 3.307498 63 0.01251739 490 0.005799741058367347 2.516531 13 21 0.002814462 Mouse Phenotype Single KO abnormal metanephros morphology 126 1.932257e-15 1.4042601070634922e-13 3.443136 59 0.01172263 326 0.0006730470840184048 2.845616 14 20 0.003030959 Mouse Phenotype Single KO interrupted aorta 134 7.486739e-15 5.116124553955223e-13 2.61561 86 0.01708722 534 0.007723200712546817 2.032583 20 40 0.004329942 Mouse Phenotype Single KO abnormal facial nerve morphology 136 8.883134e-15 5.981092502794118e-13 3.169212 63 0.01251739 368 0.0012934946786684785 2.468136 17 28 0.00368045 Mouse Phenotype Single KO small pancreas 148 2.505034e-14 1.549905157972973e-12 2.837649 72 0.01430558 773 0.024439239314359637 2.107864 14 27 0.003030959 Mouse Phenotype Single KO abnormal pharyngeal arch artery morphology 156 5.107614e-14 2.9981039357692306e-12 2.394727 95 0.01887542 267 0.00016982246389138578 2.309753 25 44 0.005412427 Mouse Phenotype Single KO abnormal liver development 168 2.294113e-13 1.2504281393452383e-11 2.381791 91 0.01808067 417 0.002736098424460432 2.032583 24 48 0.00519593 Mouse Phenotype Single KO abnormal vibrissa number 169 2.591871e-13 1.4043646595857989e-11 4.429717 37 0.00735148 896 0.039468826391741076 3.048874 6 8 0.001298982 Mouse Phenotype Single KO abnormal fourth pharyngeal arch artery morphology 171 2.823315e-13 1.5118769271929822e-11 3.288323 53 0.0105305 699 0.018753994505007154 2.540729 10 16 0.002164971 Mouse Phenotype Single KO abnormal NK T cell number 177 4.411085e-13 2.2820511494350282e-11 2.0596 122 0.02424002 775 0.024546537771612906 1.55063 37 97 0.008010392 Mouse Phenotype Single KO abnormal vestibulocochlear nerve morphology 178 4.438551e-13 2.2833601970224718e-11 2.759454 68 0.01351083 326 0.0006730470840184048 2.845616 14 20 0.003030959 Mouse Phenotype Single KO persistent truncus arteriosis 179 4.485933e-13 2.2948429318994416e-11 2.135279 112 0.02225313 436 0.0034306889520642203 1.897077 28 60 0.006061918 Mouse Phenotype Single KO increased CD4-negative NK T cell number 183 4.796458e-13 2.400063710710382e-11 4.992258 32 0.006358037 611 0.013477569340752863 4.065166 5 5 0.001082485 Mouse Phenotype Single KO abnormal vibrissa morphology 185 5.886875e-13 2.9138440202702696e-11 2.023613 126 0.02503477 689 0.017870290853410742 1.583275 37 95 0.008010392 Mouse Phenotype Single KO aorticopulmonary septal defect 187 6.541811e-13 3.203388413208556e-11 2.122081 112 0.02225313 466 0.0045514573746781115 1.865978 28 61 0.006061918 Mouse Phenotype absent kidney 79 2.095578e-22 2.5361799060759494e-20 2.423481 155 0.03079674 192 7.08735019375e-8 2.381026 41 70 0.00887638 Mouse Phenotype abnormal third pharyngeal arch morphology 118 4.568679e-18 3.701791518559322e-16 3.526878 68 0.01351083 554 0.0008971246800541517 2.468136 17 28 0.00368045 Mouse Phenotype abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell number 131 3.455611e-17 2.5220684558015267e-15 2.782365 91 0.01808067 1342 0.03430353572950819 1.669622 23 56 0.004979433 Mouse Phenotype interrupted aortic arch 140 6.191116e-17 4.228090005428572e-15 2.537793 105 0.02086231 523 0.0006882166845315488 2.117274 25 48 0.005412427 Mouse Phenotype abnormal carotid artery morphology 141 7.045723e-17 4.7775998299999994e-15 2.663664 96 0.01907411 879 0.008563981312969282 1.869976 23 50 0.004979433 Mouse Phenotype abnormal third pharyngeal arch artery morphology 142 9.863276e-17 6.641040974366197e-15 3.794805 57 0.01132525 1009 0.013652084622398416 2.322952 12 21 0.002597965 Mouse Phenotype abnormal intervertebral disk morphology 144 1.185112e-16 7.868649883333334e-15 2.172451 141 0.0280151 210 1.9836730278571428e-7 2.270157 43 77 0.009309374 Mouse Phenotype abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology 159 7.119476e-16 4.2810886815094337e-14 2.593667 94 0.01867673 1323 0.0336861130340136 1.653627 24 59 0.00519593 Mouse Phenotype interrupted aorta 160 7.152345e-16 4.2739731590625e-14 2.418773 107 0.02125969 496 0.0005286190157056451 2.113886 26 50 0.005628924 Mouse Phenotype abnormal thyroid cartilage morphology 166 1.251088e-15 7.205814679518072e-14 3.138869 68 0.01351083 980 0.012501709940816326 2.188935 14 26 0.003030959 Mouse Phenotype chondrodystrophy 172 1.616255e-15 8.984310497093025e-14 3.004159 72 0.01430558 656 0.0018991702225609759 2.408987 16 27 0.003463953 Mouse Phenotype perimembraneous ventricular septal defect 176 1.966894e-15 1.0684928144318182e-13 2.046535 149 0.02960461 1115 0.019689666153363226 1.563525 35 91 0.007577398 Mouse Phenotype abnormal fourth pharyngeal arch morphology 178 2.090721e-15 1.1229990719662922e-13 2.83954 78 0.01549772 458 0.00032297767768558957 2.491553 19 31 0.004113444 Mouse Phenotype abnormal vibrissa morphology 181 3.141595e-15 1.6594911488950275e-13 2.012606 153 0.03039936 809 0.0054274877881334985 1.571409 46 119 0.009958866 Mouse Phenotype abnormal fourth pharyngeal arch artery morphology 205 1.638438e-14 7.641514984390243e-13 2.888442 71 0.01410689 494 0.0005128640396356275 2.559549 17 27 0.00368045 Mouse Phenotype small pharyngeal arch 211 2.453328e-14 1.1116715169668247e-12 2.237445 112 0.02225313 408 0.00013261085909558823 2.100336 31 60 0.006711409 Mouse Phenotype abnormal meninges morphology 215 5.003704e-14 2.2251355322790692e-12 3.394714 54 0.01072919 1049 0.01618475871877979 2.201965 13 24 0.002814462 Mouse Phenotype abnormal second pharyngeal arch morphology 219 6.283203e-14 2.743091501506849e-12 2.513489 86 0.01708722 238 8.935690513865547e-7 2.647085 28 43 0.006061918 Mouse Phenotype abnormal cell adhesion 229 1.04045e-13 4.343992336244542e-12 2.328426 98 0.01947149 839 0.006715783148510132 1.711649 32 76 0.006927906 Mouse Phenotype cervical vertebral fusion 233 1.246786e-13 5.116103410300429e-12 2.61752 78 0.01549772 779 0.004679938899358152 1.947892 23 48 0.004979433