# 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 11 1.522409e-8 0.000018212163664545456 2.708548 42 0.03526448 120 6.517217356416667e-7 3.435376 27 88 0.01610018 GO Biological Process neural tube development 36 5.62368e-7 0.00020556112533333333 2.133122 52 0.04366079 176 0.000016829187157386364 2.528305 35 155 0.0208706 GO Biological Process tube formation 57 0.000001918497 0.0004429035442631579 2.059937 51 0.04282116 163 0.000006612840708036811 2.716866 33 136 0.019678 GO Biological Process neural tube formation 63 0.000002662757 0.0005561780851269842 2.39232 36 0.0302267 338 0.0008610175078106509 2.549762 23 101 0.01371497 GO Biological Process anterior/posterior axis specification 64 0.000002710503 0.000557304827765625 3.038809 24 0.02015113 220 0.00006260555746818182 3.73226 17 51 0.01013715 GO Biological Process gastrulation 67 0.000003133026 0.000615335658716418 2.007425 52 0.04366079 127 0.0000011785428351181104 2.692896 38 158 0.02265951 GO Biological Process regulation of glomerular mesangial cell proliferation 68 0.000003138149 0.00060727798075 6.087109 11 0.009235936 545 0.012643529374311926 6.220433 5 9 0.002981515 GO Biological Process primary neural tube formation 75 0.000004938241 0.0008664308442533334 2.471208 32 0.02686818 402 0.001851720077114428 2.528305 21 93 0.01252236 GO Biological Process endoderm development 79 0.000005462788 0.0009099345226835444 2.418965 33 0.02770781 162 0.000006438388407530864 3.433679 23 75 0.01371497 GO Biological Process regulation of cell proliferation involved in kidney development 89 0.00001061141 0.001568938698764045 4.496076 13 0.0109152 538 0.012157898501115242 5.167745 6 13 0.003577818 GO Biological Process cardiac septum morphogenesis 93 0.00001150399 0.0016277527355913978 2.178609 38 0.03190596 60 4.2842151069999995e-10 4.65097 27 65 0.01610018 GO Biological Process segmentation 94 0.0000117835 0.0016495646436170213 2.203022 37 0.03106633 149 0.000003986355666442953 3.234625 26 90 0.01550388 GO Biological Process formation of primary germ layer 97 0.00001364233 0.0018507156749484536 2.090253 41 0.03442485 154 0.000004758264493181818 2.920899 30 115 0.01788909 GO Biological Process lens morphogenesis in camera-type eye 100 0.00001452886 0.0019118526874 3.323762 18 0.01511335 346 0.0009089453745086705 5.038551 9 20 0.005366726 GO Biological Process mesoderm development 108 0.00002322558 0.0028298648816666664 2.001646 43 0.03610411 170 0.000014637235616470588 2.776061 30 121 0.01788909 GO Biological Process pituitary gland development 109 0.00002391715 0.0028873924481651373 2.484896 27 0.02267003 189 0.00002730553073174603 4.166244 16 43 0.009540847 GO Biological Process neural tube closure 110 0.00002436289 0.0029144660864545455 2.390299 29 0.02434929 400 0.0017807469386000002 2.603902 20 86 0.01192606 GO Biological Process epithelial tube formation 113 0.00002732552 0.003182093076814159 2.006241 42 0.03526448 244 0.00011442839892622952 2.59099 28 121 0.01669648 GO Biological Process cell proliferation involved in kidney development 116 0.00003145135 0.003567830298706896 4.043452 13 0.0109152 270 0.00020557769592592594 7.837746 7 10 0.00417412 GO Biological Process embryonic epithelial tube formation 121 0.00003390114 0.003686819018677686 2.006174 41 0.03442485 282 0.0002630960063829787 2.519275 27 120 0.01610018 GO Molecular Function sequence-specific mRNA binding 9 0.00000479847 0.0022510155933333337 8.870907 8 0.006717045 23 0.014138103096521738 6.718068 6 10 0.003577818 Human Phenotype Abnormality of the pituitary gland 1 3.477669e-8 0.00023206485237 2.704034 40 0.03358522 35 0.0001782758489342857 2.952997 24 91 0.01431127 Human Phenotype Abnormality of the hypothalamus-pituitary axis 2 5.041943e-8 0.000168224428195 2.665616 40 0.03358522 43 0.0002221055286744186 2.889492 24 93 0.01431127 Human Phenotype Microphthalmia 3 6.961666e-8 0.00015485065739333334 2.382242 48 0.04030227 39 0.00020116648233333334 2.564148 30 131 0.01788909 Human Phenotype Hypoplastic male external genitalia 4 9.781052e-8 0.00016317239999 2.150131 58 0.04869857 28 0.000087677047475 2.480299 35 158 0.0208706 Human Phenotype Anterior pituitary dysgenesis 5 1.822006e-7 0.00024316492076000002 6.547944 13 0.0109152 55 0.00039489831249090915 9.59724 6 7 0.003577818 Human Phenotype Abnormality of globe size 6 2.216914e-7 0.00024655778536666667 2.242962 50 0.04198153 40 0.0002089082745 2.471014 32 145 0.01908169 Human Phenotype External genital hypoplasia 8 2.696496e-7 0.0002249214726 2.068079 59 0.0495382 33 0.0001851600987818182 2.327421 37 178 0.02206321 Human Phenotype Intrahepatic cholestasis 10 3.109877e-7 0.00020752209220999997 6.899422 12 0.01007557 242 0.026754935765289256 5.59839 5 10 0.002981515 Human Phenotype Abnormality of the anterior pituitary 12 9.50693e-7 0.0005286645324166667 2.587216 34 0.02854744 47 0.0003486668056170212 3.053667 21 77 0.01252236 Human Phenotype Micropenis 13 0.000001018983 0.0005230518122307693 2.125627 50 0.04198153 36 0.00018349628565277778 2.583872 30 130 0.01788909 Human Phenotype Hypoplasia of penis 16 0.000001617034 0.000674404242625 2.090382 50 0.04198153 42 0.00022135564383333328 2.544723 30 132 0.01788909 Human Phenotype Anophthalmia 17 0.000002410287 0.0009461085382941177 3.493953 20 0.01679261 107 0.002401760503831775 4.79862 9 21 0.005366726 Human Phenotype Cleft upper lip 19 0.000002930303 0.001029153258894737 2.348837 37 0.03106633 9 0.000010457161912222223 3.23206 28 97 0.01669648 Human Phenotype Malar flattening 20 0.000003607341 0.00120358932465 2.166325 43 0.03610411 46 0.0002720215085 2.556745 29 127 0.01729278 Human Phenotype Abnormality of malar bones 22 0.000004737053 0.0014368343031363633 2.142073 43 0.03610411 49 0.00035720841367346937 2.517106 29 129 0.01729278 Human Phenotype Cleft lip 24 0.000007655995 0.0021286856097916668 2.247903 37 0.03106633 16 0.000038504824031875005 2.985808 28 105 0.01669648 Human Phenotype Hemivertebrae 25 0.000009134771 0.00243825307532 3.783209 16 0.01343409 118 0.003623926468305085 4.146956 10 27 0.005963029 Human Phenotype Coloboma 26 0.00001069477 0.002744853854230769 2.272241 35 0.02938707 127 0.004131567458110236 2.475078 21 95 0.01252236 Human Phenotype Anterior pituitary hypoplasia 27 0.00001320776 0.003264273425185185 5.796763 10 0.008396306 100 0.0020948448805 9.33065 5 6 0.002981515 Human Phenotype Upslanted palpebral fissure 28 0.00001584268 0.0037756501299999997 2.405539 30 0.02518892 84 0.0011429466735714284 2.834628 20 79 0.01192606 Mouse Phenotype Single KO open neural tube 6 5.827006e-11 8.892982323666667e-8 2.411175 69 0.05793451 37 4.022291445675676e-9 2.926431 46 176 0.02742993 Mouse Phenotype Single KO abnormal neural tube closure 7 8.089061e-11 1.0581647368142856e-7 2.136089 87 0.07304786 54 8.889245928518518e-8 2.334311 59 283 0.03518187 Mouse Phenotype Single KO abnormal eye development 15 8.339509e-9 0.000005090992260866666 2.000397 80 0.06717045 67 2.1512280423880597e-7 2.39286 53 248 0.03160405 Mouse Phenotype Single KO abnormal ectoderm development 25 4.773605e-7 0.00017484760394 3.476098 23 0.0193115 343 0.004445803590379009 2.95764 14 53 0.008348241 Mouse Phenotype Single KO abnormal germ layer morphology 26 6.246994e-7 0.0002200143233 2.143865 51 0.04282116 48 2.155840140833333e-8 3.075172 39 142 0.02325581 Mouse Phenotype Single KO abnormal germ layer development 33 0.000001362293 0.00037801566669696976 2.364965 39 0.03274559 265 0.0012477456052452831 2.32893 26 125 0.01550388 Mouse Phenotype Single KO abnormal primitive streak formation 35 0.000001590122 0.0004160213472571429 2.970966 26 0.02183039 220 0.00038629387218181815 3.38016 16 53 0.009540847 Mouse Phenotype Single KO abnormal mesoderm morphology 37 0.000002154319 0.0005331648400810811 2.290196 40 0.03358522 122 0.000012493435513114754 2.848304 29 114 0.01729278 Mouse Phenotype Single KO abnormal horizontal cell morphology 39 0.000002750123 0.0006457147772051282 4.735495 14 0.01175483 211 0.0003174588686255924 6.39816 8 14 0.004770423 Mouse Phenotype Single KO abnormal optic nerve morphology 43 0.000006376627 0.0013579249636976743 2.238309 38 0.03190596 153 0.00004329090850849673 2.915828 25 96 0.01490757 Mouse Phenotype Single KO abnormal rostral-caudal axis patterning 55 0.00001238149 0.0020614055259999997 2.121992 40 0.03358522 195 0.00021374452540000001 2.599252 26 112 0.01550388 Mouse Phenotype Single KO abnormal nasal septum morphology 57 0.00001497564 0.002405823429473684 2.88788 22 0.01847187 129 0.000022159073989147287 4.750149 14 33 0.008348241 Mouse Phenotype Single KO abnormal vitreous body morphology 60 0.00002100226 0.003205294913666667 2.293569 32 0.02686818 261 0.00120990318302682 2.762842 19 77 0.01132976 Mouse Phenotype Single KO microcephaly 63 0.00002474212 0.0035962475053968254 2.209341 34 0.02854744 142 0.00003658427854929578 3.311724 21 71 0.01252236 Mouse Phenotype Single KO failure of primitive streak formation 72 0.00004810767 0.006118360197083333 3.026548 18 0.01511335 317 0.003329632520820189 3.622488 11 34 0.006559332 Mouse Phenotype Single KO gliosis 75 0.0000542895 0.006628386020000001 2.121126 34 0.02854744 285 0.001955032030631579 2.22289 27 136 0.01610018 Mouse Phenotype Single KO abnormal genital tubercle morphology 78 0.00005743602 0.006742841476153847 4.858453 10 0.008396306 141 0.000032691392711347513 11.19678 6 6 0.003577818 Mouse Phenotype Single KO abnormal optic vesicle formation 83 0.00007742684 0.00854213944433735 3.02527 17 0.01427372 222 0.0003895453796396397 4.561651 11 27 0.006559332 Mouse Phenotype Single KO abnormal nasal placode morphology 87 0.0001045247 0.011001525033333334 3.825412 12 0.01007557 226 0.00043355072548672565 7.125224 7 11 0.00417412 Mouse Phenotype Single KO abnormal head size 88 0.0001088806 0.011329768797727274 2.019458 35 0.02938707 218 0.00034785943436238537 2.767743 22 89 0.01311866 Mouse Phenotype abnormal eye development 6 2.940322e-12 4.685403107e-9 2.00065 116 0.09739715 29 2.2768578587586207e-13 2.646512 78 330 0.04651163 Mouse Phenotype open neural tube 13 5.742543e-10 4.223419509461538e-7 2.060669 86 0.07220823 56 2.3021436776785713e-10 2.655363 60 253 0.03577818 Mouse Phenotype abnormal nasal septum morphology 21 4.722986e-9 0.0000021503080545714285 3.192297 35 0.02938707 97 1.3951677330927836e-8 4.737099 22 52 0.01311866 Mouse Phenotype abnormal nose morphology 25 1.487776e-8 0.000005689850534399999 2.113124 68 0.05709488 52 4.9122965463461536e-11 3.161444 48 170 0.02862254 Mouse Phenotype abnormal germ layer development 31 4.619365e-8 0.00001424701573064516 2.390167 49 0.0411419 278 0.00005049996388489209 2.454089 32 146 0.01908169 Mouse Phenotype abnormal germ layer morphology 32 5.571216e-8 0.000016645748805 2.122234 62 0.05205709 55 2.341097768181818e-10 2.998045 49 183 0.02921884 Mouse Phenotype microcephaly 38 1.552437e-7 0.00003906013199210526 2.393892 45 0.03778338 123 1.103658877317073e-7 3.454326 29 94 0.01729278 Mouse Phenotype abnormal telencephalon development 41 3.179069e-7 0.00007413433831463415 2.002152 63 0.05289673 47 6.018834617234042e-12 3.285283 49 167 0.02921884 Mouse Phenotype abnormal mesoderm morphology 46 3.816536e-7 0.00007932587107826088 2.266538 47 0.03946264 191 0.0000037200369295287963 2.680919 34 142 0.0202743 Mouse Phenotype abnormal ectoderm development 52 5.812195e-7 0.00010686614691346154 3.435605 23 0.0193115 625 0.00389406985968 2.850089 14 55 0.008348241 Mouse Phenotype abnormal forebrain size 53 6.077096e-7 0.00010962851859622642 2.79149 31 0.02602855 259 0.00002520210937992278 3.392964 20 66 0.01192606 Mouse Phenotype absent dentate gyrus 57 7.815384e-7 0.0001310927832 3.768433 20 0.01679261 188 0.000003160564004521277 7.46452 10 15 0.005963029 Mouse Phenotype decreased forebrain size 59 9.127756e-7 0.00014791605951864408 2.851981 29 0.02434929 323 0.0001429578184365325 3.250678 18 62 0.01073345 Mouse Phenotype decreased primordial germ cell number 61 0.000001096317 0.00017183421044262296 3.418776 22 0.01847187 473 0.0011144103507399576 3.631388 12 37 0.007155635 Mouse Phenotype abnormal head size 64 0.000001280816 0.00019134190275 2.18856 46 0.03862301 186 0.0000028624426024193546 2.920899 30 115 0.01788909 Mouse Phenotype abnormal rostral-caudal axis patterning 66 0.000001450508 0.00021012586345454546 2.098667 50 0.04198153 304 0.00008568486428289473 2.388646 32 150 0.01908169 Mouse Phenotype abnormal primordial germ cell morphology 74 0.000002915933 0.0003767464245 3.213927 22 0.01847187 559 0.002209410269946333 3.359034 12 40 0.007155635 Mouse Phenotype abnormal optic nerve morphology 84 0.000005200233 0.0005918979489642857 2.018204 49 0.0411419 158 8.240426208227849e-7 2.9094 33 127 0.019678 Mouse Phenotype abnormal apical ectodermal ridge morphology 88 0.000006190922 0.0006726296050227272 2.749029 26 0.02183039 94 1.2945624513829788e-8 5.454842 19 39 0.01132976 Mouse Phenotype abnormal primitive streak formation 97 0.00001089579 0.001073965445257732 2.601841 27 0.02267003 482 0.0011937914190248962 2.840974 17 67 0.01013715