# 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 secondary alcohol metabolic process 110 5.74679e-19 6.874728146363636e-17 2.148846 168 0.01838879 1120 0.034705487854464284 1.318557 63 117 0.008215962 GO Biological Process cholesterol metabolic process 111 2.36971e-18 2.8092805306306305e-16 2.149197 162 0.01773205 1201 0.046675312657785184 1.311829 60 112 0.007824726 GO Biological Process gene silencing by miRNA 157 2.511753e-14 2.1052329762420384e-12 2.70944 78 0.008537653 1025 0.024063394711219512 1.558294 28 44 0.003651539 GO Biological Process posttranscriptional gene silencing by RNA 162 4.234328e-14 3.4394766760493827e-12 2.538154 86 0.00941331 823 0.007789162260510328 1.584484 33 51 0.004303599 GO Biological Process posttranscriptional gene silencing 168 8.354056e-14 6.543513268095238e-12 2.505648 86 0.00941331 905 0.01182348363878453 1.554013 33 52 0.004303599 GO Biological Process regulation of cholesterol metabolic process 197 2.529755e-12 1.6897992916243653e-10 2.447608 79 0.00864711 967 0.017896512161323683 1.524692 33 53 0.004303599 GO Biological Process apoptotic mitochondrial changes 233 2.503624e-11 1.4139565757939913e-9 2.140733 95 0.01039842 738 0.003825369442682927 1.57716 38 59 0.00495566 GO Biological Process apoptotic cell clearance 297 6.786624e-10 3.006908593131313e-8 2.675303 52 0.005691769 1017 0.023619719231071777 1.723193 19 27 0.00247783 GO Biological Process positive regulation of adherens junction organization 321 1.96022e-9 8.035680679127726e-8 2.290537 66 0.007224168 730 0.003615006230547945 1.883652 20 26 0.002608242 GO Biological Process positive regulation of focal adhesion assembly 331 3.119319e-9 1.2400942211782478e-7 2.295846 64 0.007005254 693 0.0028290122050505053 1.938592 19 24 0.00247783 GO Biological Process mammary gland epithelial cell differentiation 334 3.499701e-9 1.3788193251197605e-7 2.323965 62 0.00678634 842 0.009036161836698337 2.016616 14 17 0.001825769 GO Biological Process regulation of pri-miRNA transcription from RNA polymerase II promoter 372 1.070924e-8 3.7882497086021503e-7 2.09508 73 0.007990368 687 0.002606050882532751 1.857671 22 29 0.002869066 GO Biological Process cellular response to epidermal growth factor stimulus 379 1.274542e-8 4.42525017889182e-7 2.009611 80 0.008756567 1221 0.04851569185585586 1.546578 24 38 0.00312989 GO Biological Process negative regulation of Notch signaling pathway 380 1.301579e-8 4.5072310686842105e-7 2.292789 59 0.006457968 734 0.0036846867284741143 1.780908 24 33 0.00312989 GO Biological Process cellular response to vascular endothelial growth factor stimulus 393 1.857829e-8 6.220654404834605e-7 2.03207 76 0.008318739 1050 0.025573137938095236 1.688792 20 29 0.002608242 GO Biological Process positive regulation of viral entry into host cell 410 2.974543e-8 9.546832033414634e-7 4.920139 19 0.002079685 1208 0.04821709233195364 2.176665 8 9 0.001043297 GO Biological Process negative regulation of cyclin-dependent protein serine/threonine kinase activity 430 4.980342e-8 0.0000015241004739069767 2.549661 44 0.004816112 883 0.010745795877349943 1.836561 18 24 0.002347418 GO Biological Process release of cytochrome c from mitochondria 431 4.995665e-8 0.000001525242592459397 2.690459 40 0.004378284 1212 0.04866182999834983 1.749106 15 21 0.001956182 GO Biological Process regulation of release of cytochrome c from mitochondria 440 6.170276e-8 0.0000018453332246363635 2.141325 62 0.00678634 949 0.016165061927291887 1.578082 29 45 0.003781951 GO Biological Process positive regulation of cell junction assembly 443 6.388222e-8 0.0000018975759209480814 2.045232 69 0.007552539 868 0.01004604601624424 1.737821 22 31 0.002869066 GO Cellular Component ruffle membrane 31 3.987985e-20 2.2229800258064515e-18 2.223885 166 0.01816988 110 0.006383057629090909 1.446987 52 88 0.006781429 GO Cellular Component cytoplasmic microtubule 72 4.171868e-9 1.00124832e-7 2.108769 76 0.008318739 105 0.004642579748571429 1.616174 33 50 0.004303599 GO Molecular Function DNA binding, bending 116 0.000002869678 0.0001044463837586207 2.139916 46 0.005035026 95 0.0059943689347368425 2.062104 16 19 0.002086594 GO Molecular Function AMP binding 126 0.000005837544 0.0001956040537142857 3.189978 21 0.002298599 118 0.0318241622440678 2.226135 10 11 0.001304121 GO Molecular Function DEAD/H-box RNA helicase binding 254 0.0006053543 0.010062227774015747 2.223766 22 0.002408056 117 0.027851007584615384 2.448748 8 8 0.001043297 Human Phenotype Abnormality of the rectum 36 1.186633e-8 0.000002199556113611111 2.168201 67 0.007333625 212 0.005355652223113207 1.816813 23 31 0.002999478 Human Phenotype Spinal rigidity 112 0.000002032271 0.00012108343199107142 2.600552 32 0.003502627 316 0.022932883705696204 1.865713 16 21 0.002086594 Human Phenotype Agenesis of incisor 179 0.00001229371 0.00045830126720670385 2.546606 28 0.003064799 361 0.03495435702493075 2.448748 7 7 0.0009128847 Human Phenotype Onion bulb formation 217 0.00002586194 0.0007952844498617512 2.046164 41 0.004487741 249 0.010246892644979919 1.861049 19 25 0.00247783 Human Phenotype Segmental peripheral demyelination/remyelination 332 0.0001429642 0.002873494296987952 2.369814 24 0.00262697 366 0.03633692812021858 2.203873 9 10 0.001173709 Human Phenotype Distal lower limb muscle weakness 343 0.0001618124 0.0031480295778425656 2.850986 17 0.001860771 242 0.008685642978512396 2.448748 9 9 0.001173709 Human Phenotype Urogenital fistula 357 0.0001902164 0.003555501504761905 2.069466 31 0.00339317 208 0.00526795814375 2.142655 14 16 0.001825769 Human Phenotype Vaginal fistula 374 0.0002174259 0.0038793663922459896 2.11135 29 0.003174256 290 0.017453107244137928 2.098927 12 14 0.001564945 Human Phenotype Intestinal fistula 393 0.0002757732 0.0046825306961832056 2.051094 30 0.003283713 245 0.009653897191836734 2.122248 13 15 0.001695357 Human Phenotype Rectovaginal fistula 410 0.0003171356 0.005161575265365854 2.092376 28 0.003064799 344 0.03117565465406977 2.072018 11 13 0.001434533 Mouse Phenotype Single KO enlarged liver sinusoidal spaces 50 3.395683e-21 6.2188538462e-19 3.101636 97 0.01061734 917 0.026910146232279174 1.588377 24 37 0.00312989 Mouse Phenotype Single KO abnormal pharyngeal arch artery morphology 81 5.246029e-17 5.930603401604938e-15 2.124686 153 0.01674694 263 0.000006224430709885932 1.947868 35 44 0.004564424 Mouse Phenotype Single KO abnormal KLRG1+ CD8 alpha beta T cell number 88 6.297428e-16 6.552903204090909e-14 4.126636 49 0.005363398 959 0.03214618798957247 2.040623 10 12 0.001304121 Mouse Phenotype Single KO decreased mean corpuscular volume 131 7.167714e-13 5.010286801374046e-11 2.004471 129 0.01411996 455 0.0006703988627032967 1.523665 56 90 0.007303078 Mouse Phenotype Single KO abnormal fourth pharyngeal arch morphology 132 7.705989e-13 5.3457379752272734e-11 2.429457 84 0.009194396 585 0.0032602535841025643 1.98232 17 21 0.002217006 Mouse Phenotype Single KO abnormal fourth pharyngeal arch artery morphology 134 1.061571e-12 7.254332572388061e-11 2.563485 75 0.008209282 772 0.013982406880829017 1.989608 13 16 0.001695357 Mouse Phenotype Single KO interrupted aortic arch 153 5.122844e-12 3.0660053926797383e-10 2.055537 112 0.01225919 472 0.0007912951708474575 1.804341 28 38 0.003651539 Mouse Phenotype Single KO decreased mean corpuscular hemoglobin 163 8.83332e-12 4.962374922699387e-10 2.099734 104 0.01138354 278 0.000012001602286690647 1.738966 49 69 0.006390193 Mouse Phenotype Single KO abnormal vertebral body morphology 176 2.187836e-11 1.1382962643181818e-9 2.004803 112 0.01225919 624 0.0046303339028846155 1.587152 35 54 0.004564424 Mouse Phenotype Single KO abnormal cervical atlas morphology 191 4.692591e-11 2.249741140680628e-9 2.061221 101 0.01105517 466 0.0007423725311587982 1.741332 32 45 0.004173187 Mouse Phenotype Single KO abnormal thymus development 200 8.100585e-11 3.7088528422499994e-9 3.130901 45 0.004925569 1095 0.049859580673059366 1.836561 12 16 0.001564945 Mouse Phenotype Single KO abnormal thyroid cartilage morphology 206 1.030299e-10 4.579829098543689e-9 2.413781 69 0.007552539 343 0.00007142815067346938 2.312706 17 18 0.002217006 Mouse Phenotype Single KO abnormal pulmonary valve cusp morphology 210 1.154177e-10 5.032761328095239e-9 2.463038 66 0.007224168 860 0.021894450886046513 1.836561 15 20 0.001956182 Mouse Phenotype Single KO abnormal thymus involution 212 1.459952e-10 6.306028520754718e-9 3.277031 41 0.004487741 567 0.002801118225044092 2.260383 12 13 0.001564945 Mouse Phenotype Single KO persistent right dorsal aorta 244 7.049883e-10 2.645728632418033e-8 2.562866 56 0.006129597 1055 0.04095777678483412 1.924016 11 14 0.001434533 Mouse Phenotype Single KO abnormal right subclavian artery morphology 263 1.420915e-9 4.947269450570342e-8 2.007677 91 0.009960595 496 0.0011304680195362903 1.81907 26 35 0.003390715 Mouse Phenotype Single KO abnormal carotid artery morphology 264 1.456746e-9 5.0528117886363634e-8 2.03356 88 0.009632224 684 0.007864853588011696 1.652905 27 40 0.003521127 Mouse Phenotype Single KO abnormal sixth pharyngeal arch artery morphology 272 1.88967e-9 6.361657422794118e-8 2.292745 66 0.007224168 680 0.007786055705147059 2.016616 14 17 0.001825769 Mouse Phenotype Single KO decreased circulating total protein level 274 2.112499e-9 7.05990997919708e-8 2.026288 87 0.009522767 628 0.005011125964490446 1.562132 37 58 0.004825248 Mouse Phenotype Single KO abnormal parathyroid gland morphology 287 3.508628e-9 1.1194601601393729e-7 2.841632 43 0.004706655 989 0.0355502701718908 1.804341 14 19 0.001825769 Mouse Phenotype enlarged liver sinusoidal spaces 66 3.108509e-22 4.503099174090909e-20 2.95337 110 0.01204028 1308 0.02121571280733945 1.552865 26 41 0.003390715 Mouse Phenotype abnormal KLRG1+ CD8 alpha beta T cell number 119 6.297428e-16 5.059639420840336e-14 4.126636 49 0.005363398 1362 0.023633121281938327 2.040623 10 12 0.001304121 Mouse Phenotype abnormal third pharyngeal arch artery morphology 137 4.633178e-15 3.2334171429197077e-13 2.824075 77 0.008428196 1439 0.0297790400847811 1.749106 15 21 0.001956182 Mouse Phenotype abnormal third pharyngeal arch morphology 150 3.602933e-14 2.2965094942e-12 2.514404 88 0.009632224 1074 0.00913832189944134 1.749106 20 28 0.002608242 Mouse Phenotype increased squamous cell carcinoma incidence 173 1.833834e-13 1.0134847904046241e-11 2.311032 98 0.0107268 893 0.003206214433706607 1.601104 34 52 0.004434011 Mouse Phenotype poikilocytosis 184 4.374072e-13 2.272853390869565e-11 3.024387 59 0.006457968 1597 0.043176242708829055 1.506922 24 39 0.00312989 Mouse Phenotype abnormal pulmonary valve cusp morphology 192 7.982811e-13 3.97519041515625e-11 2.579219 75 0.008209282 949 0.004795811704741834 1.813887 20 27 0.002608242 Mouse Phenotype abnormal sarcomere morphology 199 1.351661e-12 6.494085839698493e-11 2.102209 112 0.01225919 1236 0.01616026365776699 1.469249 36 60 0.004694836 Mouse Phenotype abnormal cervical atlas morphology 223 1.230185e-11 5.274349230941704e-10 2.062756 107 0.01171191 612 0.00028806793078431375 1.709503 37 53 0.004825248 Mouse Phenotype increased skin papilloma incidence 230 2.396044e-11 9.960250732173912e-10 2.377896 76 0.008318739 1169 0.014783890496150557 1.574195 27 42 0.003521127 Mouse Phenotype abnormal fourth pharyngeal arch artery morphology 239 3.314682e-11 1.326011489623431e-9 2.129118 95 0.01039842 613 0.0002922524751386623 1.995276 22 27 0.002869066 Mouse Phenotype abnormal sublingual duct morphology 243 3.889151e-11 1.5302128687654321e-9 4.200411 32 0.003502627 1457 0.03040019366026081 2.448748 6 6 0.0007824726 Mouse Phenotype abnormal thymus involution 245 4.005985e-11 1.5633152075510204e-9 2.944168 51 0.005582312 890 0.003136937243258427 1.916412 18 23 0.002347418 Mouse Phenotype abnormal fourth pharyngeal arch morphology 256 5.67694e-11 2.12020403671875e-9 2.045617 102 0.01116462 558 0.00011887727606989246 1.974797 25 31 0.003260303 Mouse Phenotype persistent right dorsal aorta 281 1.667603e-10 5.6740043711743776e-9 2.480003 64 0.007005254 974 0.005675675619609856 2.016616 14 17 0.001825769 Mouse Phenotype small basisphenoid bone 291 2.686633e-10 8.827112753608248e-9 2.512675 61 0.006676883 974 0.005675675619609856 2.016616 14 17 0.001825769 Mouse Phenotype abnormal thymus development 325 1.239159e-9 3.645415138153846e-8 2.171423 76 0.008318739 771 0.001687196559922179 1.857671 22 29 0.002869066 Mouse Phenotype absent second pharyngeal arch 327 1.323644e-9 3.870140759633027e-8 2.567036 54 0.005910683 1324 0.02260872483308157 1.872572 13 17 0.001695357 Mouse Phenotype decreased circulating total protein level 333 1.627721e-9 4.67346560990991e-8 2.028638 88 0.009632224 841 0.0024390133737217596 1.57716 38 59 0.00495566 Mouse Phenotype abnormal thyroid cartilage morphology 334 1.73193e-9 4.957779260479042e-8 2.085206 82 0.008975482 457 0.000013703678785995623 2.1662 23 26 0.002999478