# 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 axis specification 31 0.000001277132 0.0005421219350967742 2.684337 31 0.03494927 260 0.001808569417192308 2.896493 18 88 0.01357466 GO Biological Process regulation of gastrulation 38 0.000003927914 0.0013601952717368423 3.662132 18 0.02029312 200 0.00046442821922 4.471779 12 38 0.009049774 GO Biological Process regulation of retina development in camera-type eye 46 0.000005426676 0.0015523832496521742 7.367815 9 0.01014656 256 0.0016683895161718751 10.11474 5 7 0.003770739 GO Biological Process regulation of neural precursor cell proliferation 57 0.00001086093 0.0025073504889473685 2.596358 27 0.03043968 104 0.000008081620094615385 3.812478 21 78 0.0158371 GO Biological Process stem cell proliferation 89 0.00006156361 0.00910242184258427 2.769621 20 0.02254791 186 0.00022221044396236562 3.933509 15 54 0.01131222 GO Biological Process regulation of neural retina development 96 0.00008783296 0.012039520006666665 8.589699 6 0.006764374 389 0.011191895256041131 9.440422 4 6 0.003016591 GO Biological Process regulation of histone H3-K9 methylation 100 0.00009492338 0.0124909675742 5.080717 9 0.01014656 380 0.010206861459473684 4.956222 7 20 0.005279035 GO Biological Process miRNA metabolic process 106 0.0001059172 0.013148721083018868 6.711014 7 0.00789177 483 0.029604480683229815 4.720211 6 18 0.004524887 GO Biological Process regulation of embryonic development 113 0.000121241 0.01411867538938053 2.05229 33 0.03720406 143 0.00006393228373636363 2.974923 25 119 0.0188537 GO Biological Process anterior/posterior axis specification 116 0.0001301165 0.01476037089224138 2.890209 17 0.01916573 351 0.006589318638461538 3.331914 12 51 0.009049774 GO Biological Process T cell mediated cytotoxicity 130 0.0002007386 0.020319378749230767 9.650806 5 0.005636979 389 0.011191895256041131 9.440422 4 6 0.003016591 GO Biological Process gene silencing by RNA 133 0.0002241256 0.022174953160902254 2.98744 15 0.01691094 470 0.02516642231255319 2.574661 14 77 0.01055807 GO Biological Process positive regulation of embryonic development 172 0.0004819191 0.03686961300523256 2.666928 16 0.01803833 206 0.0006057308081310679 4.720211 11 33 0.008295626 GO Biological Process regulation of stem cell proliferation 174 0.0004856619 0.036728878977586206 2.420987 19 0.02142052 215 0.0007906588210232559 3.540158 15 60 0.01131222 GO Biological Process regulation of neuroblast proliferation 190 0.0007028128 0.04867533492210527 2.920471 13 0.01465614 213 0.0007445133616431925 5.057369 10 28 0.007541478 Human Phenotype Holoprosencephaly 12 0.000003153659 0.0017536972089166665 5.038604 13 0.01465614 86 0.0014759527623255811 7.080317 7 14 0.005279035 Human Phenotype Abnormality of the pituitary gland 14 0.00000402278 0.0019174293528571428 2.632317 29 0.03269448 41 0.000173141726902439 3.267838 21 91 0.0158371 Human Phenotype Abnormality of the hypothalamus-pituitary axis 16 0.000005255236 0.00219176186425 2.594918 29 0.03269448 48 0.00021602850452083334 3.197562 21 93 0.0158371 Human Phenotype Malar flattening 20 0.00001054661 0.0035188764265000005 2.299971 34 0.03833145 36 0.0001314949127166667 2.899027 26 127 0.01960784 Human Phenotype Abnormality of the anterior pituitary 21 0.00001067781 0.0033930012442857146 2.656534 26 0.02931229 22 0.00007552792585454545 3.678087 20 77 0.01508296 Human Phenotype Abnormality of malar bones 22 0.00001323069 0.004013108835 2.274222 34 0.03833145 40 0.0001621786735125 2.854081 26 129 0.01960784 Human Phenotype Incomplete penetrance 29 0.00002237863 0.005149399930689655 2.541541 26 0.02931229 169 0.010315530097633136 2.498935 18 102 0.01357466 Human Phenotype Abnormal localization of kidney 31 0.00002881943 0.006203614722258064 3.430891 16 0.01803833 122 0.004115672298032787 3.615481 12 47 0.009049774 Human Phenotype Cleft upper lip 32 0.00003293961 0.0068689380478125 2.386697 28 0.03156708 58 0.00036781541484482756 3.065704 21 97 0.0158371 Human Phenotype Abnormality of thrombocytes 40 0.00005584915 0.00931703444875 2.31347 28 0.03156708 198 0.017720919906060607 2.072288 24 164 0.01809955 Human Phenotype Coloboma 41 0.00005685149 0.009252926652926829 2.353631 27 0.03043968 50 0.00029921838768 3.130245 21 95 0.0158371 Human Phenotype Hypoplastic facial bones 42 0.00005980121 0.009501273198333333 7.364998 7 0.00789177 176 0.012544079807954545 9.440422 4 6 0.003016591 Human Phenotype Cleft lip 43 0.000069116 0.010725838790697674 2.284137 28 0.03156708 76 0.0010425280581578948 2.832127 21 105 0.0158371 Human Phenotype Abnormal visual electrophysiology 47 0.00007766716 0.011027084227234042 2.80899 19 0.02142052 290 0.04929568300344827 2.360106 14 84 0.01055807 Human Phenotype Abnormality of the scapula 48 0.00007803662 0.010848715942916665 2.573051 22 0.02480271 77 0.0010906689183116883 3.381644 16 67 0.01206637 Human Phenotype Thrombocytopenia 49 0.0000859019 0.011698436299999998 2.338062 26 0.02931229 188 0.014144520285638298 2.193901 22 142 0.01659125 Human Phenotype Absent nasal septal cartilage 53 0.0001019716 0.01283880163773585 8.355726 6 0.006764374 182 0.012885104689560441 14.16063 3 3 0.002262443 Human Phenotype Median cleft lip and palate 53 0.0001019716 0.01283880163773585 8.355726 6 0.006764374 182 0.012885104689560441 14.16063 3 3 0.002262443 Human Phenotype Abnormality of the nasal skeleton 56 0.0001090171 0.012990555505357142 8.252848 6 0.006764374 258 0.03443635273643411 10.62048 3 4 0.002262443 Human Phenotype Abnormality of the chin 59 0.0001228378 0.013893163379661016 2.106519 31 0.03494927 83 0.0011958980771084337 2.647923 23 123 0.0173454 Mouse Phenotype Single KO abnormal somite development 10 9.249484e-9 0.0000084697524988 2.455735 51 0.05749718 40 7.6738727595e-9 3.200143 40 177 0.03016591 Mouse Phenotype Single KO abnormal neural tube closure 13 1.551629e-8 0.000010929435963846153 2.142898 65 0.07328072 113 0.000007366981536460177 2.301728 46 283 0.0346908 Mouse Phenotype Single KO open neural tube 18 5.218043e-8 0.000026545344306111112 2.346053 50 0.05636979 106 0.000005688342221886793 2.735577 34 176 0.02564103 Mouse Phenotype Single KO abnormal visceral yolk sac morphology 19 9.993828e-8 0.000048164991050526314 2.295514 50 0.05636979 44 1.2102994202272727e-8 3.146807 40 180 0.03016591 Mouse Phenotype Single KO abnormal axial mesoderm 21 1.273146e-7 0.0000555152282 6.158103 14 0.01578354 222 0.0009332571038288288 5.962372 8 19 0.006033183 Mouse Phenotype Single KO abnormal forebrain development 23 1.621704e-7 0.00006456497186086957 2.21587 52 0.05862458 48 1.92227177875e-8 3.203 38 168 0.02865762 Mouse Phenotype Single KO abnormal telencephalon development 31 0.000001027483 0.00030350522035483873 2.45307 37 0.04171364 79 0.000001134098159164557 3.540158 26 104 0.01960784 Mouse Phenotype Single KO abnormal rostral-caudal axis patterning 32 0.000001404904 0.00040202206025 2.493101 35 0.03945885 171 0.00015490361402923974 2.907987 23 112 0.0173454 Mouse Phenotype Single KO abnormal optic vesicle formation 35 0.000001883409 0.0004927536060857143 4.062115 17 0.01916573 145 0.00005986700719517242 5.769147 11 27 0.008295626 Mouse Phenotype Single KO abnormal germ layer development 41 0.000004346268 0.0009707018555121951 2.524119 31 0.03494927 274 0.001986319061751825 2.492271 22 125 0.01659125 Mouse Phenotype Single KO impaired somite development 43 0.000004542232 0.000967284149395349 2.728369 27 0.03043968 254 0.0015096972854330708 2.863948 18 89 0.01357466 Mouse Phenotype Single KO abnormal germ layer morphology 46 0.000006586909 0.0013112244720217391 2.201303 39 0.04396843 82 0.0000014383994273170732 3.091406 31 142 0.02337858 Mouse Phenotype Single KO microcephaly 50 0.000008374116 0.00153363560424 2.530288 29 0.03269448 102 0.000005147586004117647 3.988911 20 71 0.01508296 Mouse Phenotype Single KO abnormal basisphenoid bone morphology 51 0.00000930029 0.0016698579515686276 2.974843 22 0.02480271 84 0.0000016299100260714288 5.269073 16 43 0.01206637 Mouse Phenotype Single KO abnormal head size 52 0.00001133182 0.001995489918076923 2.401688 31 0.03494927 119 0.000012623440062184874 3.500381 22 89 0.01659125 Mouse Phenotype Single KO abnormal neural fold morphology 55 0.00001264913 0.0021059651529090908 3.35356 18 0.02029312 374 0.008361729240374332 3.314191 11 47 0.008295626 Mouse Phenotype Single KO abnormal mesoderm morphology 57 0.00001311656 0.002107163858245614 2.383211 31 0.03494927 147 0.00006904359312244898 2.981186 24 114 0.01809955 Mouse Phenotype Single KO abnormal ectoderm development 58 0.00001533776 0.002421514971034483 3.449858 17 0.01916573 350 0.006777192502571428 3.206181 12 53 0.009049774 Mouse Phenotype Single KO abnormal endoderm development 64 0.00001779013 0.00254537844390625 3.409058 17 0.01916573 291 0.00236777111766323 3.615481 12 47 0.009049774 Mouse Phenotype Single KO increased axial mesoderm size 67 0.00002482364 0.003392687634029851 10.81974 6 0.006764374 226 0.0010034273014159292 14.16063 4 4 0.003016591 Mouse Phenotype abnormal neural tube closure 15 1.201714e-9 7.659725036000001e-7 2.014856 86 0.09695603 80 5.22857865525e-9 2.384563 65 386 0.04901961 Mouse Phenotype abnormal forebrain development 19 1.764148e-9 8.877378435789474e-7 2.147955 73 0.08229989 25 5.8543685736e-14 3.302282 59 253 0.04449472 Mouse Phenotype abnormal somite development 23 5.540123e-9 0.0000023030050436086957 2.219671 64 0.07215333 47 3.8577577187234045e-11 3.080975 52 239 0.03921569 Mouse Phenotype open neural tube 33 3.762509e-8 0.000010901014711818182 2.091276 65 0.07328072 99 2.5208513284848486e-8 2.686602 48 253 0.0361991 Mouse Phenotype abnormal telencephalon development 37 6.558401e-8 0.000016947262692162164 2.261625 53 0.05975197 50 4.5983763354e-11 3.561357 42 167 0.03167421 Mouse Phenotype abnormal rostral-caudal axis patterning 38 7.413055e-8 0.000018651636540789474 2.479786 44 0.04960541 220 0.000025551807267272726 2.737722 29 150 0.02187029 Mouse Phenotype abnormal nose morphology 41 1.309426e-7 0.000030535175575609754 2.211465 53 0.05975197 88 1.5837253261363635e-8 3.165318 38 170 0.02865762 Mouse Phenotype abnormal axial mesoderm 43 1.736338e-7 0.000038607273530232554 5.541445 15 0.01691094 271 0.00012342661816605165 6.372285 9 20 0.00678733 Mouse Phenotype abnormal germ layer development 45 1.964228e-7 0.00004173329757333333 2.554376 39 0.04396843 270 0.00012280151941111112 2.618747 27 146 0.02036199 Mouse Phenotype abnormal visceral yolk sac morphology 46 2.262012e-7 0.00004701542767826087 2.118279 56 0.06313416 77 4.079437812467533e-9 2.921028 46 223 0.0346908 Mouse Phenotype abnormal optic vesicle formation 47 2.873599e-7 0.00005845634050851064 3.573752 23 0.0259301 148 6.882253285135135e-7 5.740797 15 37 0.01131222 Mouse Phenotype microcephaly 50 4.936685e-7 0.00009439929057 2.571477 36 0.04058625 162 0.0000013636270016666666 3.615481 24 94 0.01809955 Mouse Phenotype abnormal head size 59 9.409892e-7 0.00015248809730847456 2.427574 38 0.04284104 180 0.000004757317230833334 3.201535 26 115 0.01960784 Mouse Phenotype abnormal nasal septum morphology 63 0.000001429529 0.00021694804395238097 3.061705 25 0.02818489 171 0.000002792729520526316 4.629438 17 52 0.01282051 Mouse Phenotype abnormal neural fold morphology 70 0.000002739382 0.0003741604471714286 3.220091 22 0.02480271 416 0.0013147301221875 3.304148 14 60 0.01055807 Mouse Phenotype abnormal mesoderm development 71 0.000002744148 0.0003695323806760564 2.948299 25 0.02818489 441 0.001998627103945578 2.904745 16 78 0.01206637 Mouse Phenotype abnormal endoderm development 75 0.000003705466 0.00047237280568 3.158424 22 0.02480271 310 0.00031949376861290326 3.600161 15 59 0.01131222 Mouse Phenotype abnormal dorsal telencephalic commissure morphology 79 0.000005442385 0.0006586663668987342 2.080926 45 0.05073281 189 0.000008829077626984128 2.832127 30 150 0.02262443 Mouse Phenotype abnormal secondary palate development 81 0.000005514193 0.0006508790033703703 2.167755 41 0.04622322 76 3.161059078026316e-9 3.807901 32 119 0.02413273 Mouse Phenotype abnormal corpus callosum morphology 86 0.000007564253 0.0008409514294534884 2.073097 44 0.04960541 210 0.00001477660745142857 2.812729 29 146 0.02187029