# 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 mammary gland epithelium development 78 4.259205e-14 7.18549725576923e-12 2.496678 88 0.02291667 213 0.000013339062072300468 2.423151 30 54 0.006968641 GO Biological Process canonical Wnt signaling pathway 113 4.557453e-11 5.307214515663717e-9 2.014268 106 0.02760417 178 0.0000021541571315168537 2.134435 46 94 0.01068525 GO Biological Process insulin receptor signaling pathway 148 3.916376e-9 3.4821345799999996e-7 2.197383 69 0.01796875 402 0.0017813285925870647 1.861689 35 82 0.008130081 GO Biological Process erythrocyte homeostasis 179 3.723024e-8 0.0000027369426154189943 2.252887 57 0.01484375 524 0.012432286691221376 1.755998 31 77 0.007200929 GO Biological Process regulation of phosphatidylinositol 3-kinase activity 203 9.090006e-8 0.000005892383692315272 2.431507 46 0.01197917 533 0.013733937201500939 2.028685 20 43 0.004645761 GO Biological Process branching involved in mammary gland duct morphogenesis 207 1.236125e-7 0.000007858052596618357 2.710793 37 0.009635417 559 0.017333152501252235 2.492384 12 21 0.002787456 GO Biological Process regulation of lipid kinase activity 210 1.450014e-7 0.000009086063917142857 2.272636 51 0.01328125 460 0.005340788977608695 2.01308 24 52 0.005574913 GO Biological Process mammary gland duct morphogenesis 214 1.599518e-7 0.000009835540823364486 2.356762 47 0.01223958 551 0.01622771701125227 2.256037 15 29 0.003484321 GO Biological Process corpus callosum development 285 0.000001343628 0.0000620378977263158 3.51176 21 0.00546875 682 0.04252311555278592 2.617003 9 15 0.002090592 GO Biological Process positive regulation of pri-miRNA transcription from RNA polymerase II promoter 338 0.000003905651 0.00015205461984911243 3.071679 23 0.005989583 512 0.010243525885546875 2.617003 12 20 0.002787456 GO Biological Process viral mRNA export from host cell nucleus 366 0.000007553156 0.00027156278634972675 5.051925 12 0.003125 471 0.0059290011789808915 3.816463 7 8 0.001626016 GO Biological Process establishment of epithelial cell polarity 397 0.00001226203 0.0004064384200755667 2.269475 35 0.009114583 348 0.0007393576997413794 2.648158 17 28 0.003948897 GO Biological Process response to laminar fluid shear stress 416 0.00001681959 0.0005320408288701923 2.876673 22 0.005729167 599 0.024303310966611015 2.803932 9 14 0.002090592 GO Biological Process lens fiber cell differentiation 419 0.00001706735 0.0005360125504773269 2.295802 33 0.00859375 541 0.014703720659149723 2.348593 14 26 0.003252033 GO Biological Process regulation of pri-miRNA transcription from RNA polymerase II promoter 517 0.00005655931 0.0014395821282205028 2.185006 32 0.008333333 372 0.0013143403755107527 2.556842 17 29 0.003948897 GO Biological Process uterus development 600 0.000126012 0.00276365318 2.253985 27 0.00703125 411 0.0022430645701216547 2.835087 13 20 0.003019744 GO Biological Process mammary gland epithelial cell proliferation 605 0.0001314619 0.0028593506480991734 2.492082 22 0.005729167 463 0.005453947919222463 3.271254 9 12 0.002090592 GO Biological Process dendritic spine organization 614 0.0001488619 0.003190348114169381 2.126973 30 0.0078125 690 0.04381168902608695 2.180836 13 26 0.003019744 GO Biological Process negative regulation of heart contraction 720 0.0003583109 0.0065486293515277785 2.105933 27 0.00703125 678 0.04127731811356933 2.275655 12 23 0.002787456 GO Biological Process regulation of protein kinase C signaling 804 0.000538952 0.008820981800995024 2.292423 21 0.00546875 505 0.009760332566138613 2.907782 10 15 0.00232288 GO Cellular Component TOR complex 58 0.000007364869 0.000219422304 3.674552 17 0.004427083 80 0.0476036568 2.617003 9 15 0.002090592 GO Cellular Component THO complex part of transcription export complex 76 0.0000342108 0.0007778455578947369 4.698826 11 0.002864583 44 0.005688607418181818 4.361672 6 6 0.001393728 GO Molecular Function repressing transcription factor binding 41 0.000001130065 0.00011636913243902441 2.006113 58 0.01510417 91 0.043197035753846154 1.817364 25 60 0.005807201 Human Phenotype Pyloric stenosis 12 1.129614e-7 0.00006281595185 2.678641 38 0.009895833 136 0.01200720974852941 2.423151 15 27 0.003484321 Human Phenotype Abnormality of the pylorus 16 1.681546e-7 0.00007013097786249999 2.596668 39 0.01015625 149 0.012819074840268455 2.326225 16 30 0.003716609 Human Phenotype Zonular cataract 42 0.000003448899 0.0005479643577857142 2.856702 26 0.006770833 159 0.016727095784905662 2.617003 12 20 0.002787456 Human Phenotype Hypotelorism 66 0.00001504213 0.0015208505074242424 2.015066 45 0.01171875 195 0.027211771947179487 2.066055 18 38 0.004181185 Human Phenotype Rectal prolapse 67 0.00001565383 0.0015590747401492539 3.189361 19 0.004947917 185 0.022900394185945944 3.172125 8 11 0.001858304 Human Phenotype Laryngomalacia 74 0.00002122629 0.0019140950428378376 3.53708 16 0.004166667 208 0.03549173001442307 2.803932 9 14 0.002090592 Human Phenotype Interphalangeal joint contracture of finger 89 0.00003417118 0.0025620706083146066 2.316341 30 0.0078125 120 0.009145385425833335 2.180836 20 40 0.004645761 Human Phenotype Abnormality of the rectum 92 0.0000359362 0.0026065463326086957 2.309781 30 0.0078125 167 0.01862922587784431 2.251186 16 31 0.003716609 Human Phenotype Flexion contracture of finger 113 0.0000624108 0.0036855510477876103 2.090031 35 0.009114583 50 0.0012153127847 2.326225 24 45 0.005574913 Human Phenotype Low posterior hairline 175 0.0002248989 0.008575716341142858 2.104638 29 0.007552083 236 0.04743244743644068 2.052552 16 34 0.003716609 Human Phenotype Humeroradial synostosis 415 0.002595386 0.041732556091566265 2.20172 17 0.004427083 191 0.026705587066492148 3.392412 7 9 0.001626016 Mouse Phenotype Single KO abnormal heart ventricle wall thickness 2 3.930937e-13 1.79977950545e-9 2.111512 115 0.02994792 134 0.00004357976205820895 1.836494 56 133 0.01300813 Mouse Phenotype Single KO thin ventricular wall 14 3.547461e-10 2.3202928840714286e-7 2.089124 88 0.02291667 212 0.0005519109631603773 1.862798 41 96 0.00952381 Mouse Phenotype Single KO small bulbourethral gland 19 1.826901e-9 8.804701293157895e-7 25.35854 8 0.002083333 192 0.00036228382796874996 4.361672 8 8 0.001858304 Mouse Phenotype Single KO malocclusion 27 2.009969e-8 0.000006816772641851851 2.402566 52 0.01354167 283 0.002101489436042403 2.295617 20 38 0.004645761 Mouse Phenotype Single KO abnormal interventricular septum thickness 28 2.061753e-8 0.000006742668650357142 2.778578 40 0.01041667 590 0.02529990634067797 1.927251 19 43 0.004413473 Mouse Phenotype Single KO abnormal thymus development 30 2.700539e-8 0.000008242945207666666 3.972765 24 0.00625 320 0.003526961628125 2.99865 11 16 0.002555168 Mouse Phenotype Single KO abnormal external auditory canal morphology 33 3.578243e-8 0.000009929082166969698 4.057994 23 0.005989583 629 0.03208404620190779 2.617003 9 15 0.002090592 Mouse Phenotype Single KO abnormal supraoccipital bone morphology 34 4.333871e-8 0.000011672134337352942 2.440916 48 0.0125 327 0.0038629154538226303 2.51635 15 26 0.003484321 Mouse Phenotype Single KO abnormal cell chemotaxis 39 5.857724e-8 0.000013753635555897436 2.009942 72 0.01875 551 0.01970152647368421 1.571774 40 111 0.009291521 Mouse Phenotype Single KO abnormal pharyngeal arch artery morphology 48 1.178573e-7 0.000022483735335416667 2.081463 63 0.01640625 240 0.000821187169125 2.279965 23 44 0.005342625 Mouse Phenotype Single KO thick interventricular septum 52 2.055747e-7 0.00003620091399807693 3.091546 29 0.007552083 521 0.01743479618138196 2.261608 14 27 0.003252033 Mouse Phenotype Single KO decreased circulating creatinine level 59 3.205219e-7 0.00004974608539491526 2.43133 42 0.0109375 741 0.04501961814844804 1.761445 21 52 0.004878049 Mouse Phenotype Single KO small vulva 82 0.00000109182 0.00012192433829268291 9.025243 9 0.00234375 192 0.00036228382796874996 4.361672 8 8 0.001858304 Mouse Phenotype Single KO premature hair loss 126 0.000005998392 0.00043593075828571423 2.766684 26 0.006770833 629 0.03208404620190779 2.617003 9 15 0.002090592 Mouse Phenotype Single KO increased spinal cord size 131 0.000007106753 0.0004967674597022901 10.34743 7 0.001822917 678 0.037277323140117995 4.361672 4 4 0.0009291521 Mouse Phenotype Single KO absent egg cylinders 149 0.00001113586 0.0006843695974496644 3.153599 20 0.005208333 403 0.008511013413647642 2.907782 10 15 0.00232288 Mouse Phenotype Single KO abnormal third pharyngeal arch artery morphology 167 0.00001930506 0.0010585415234730538 3.031858 20 0.005208333 580 0.024011138065517246 2.907782 8 12 0.001858304 Mouse Phenotype Single KO increased bone volume 170 0.00002106437 0.0011346260946470588 2.004074 44 0.01145833 568 0.022320977452464787 1.823972 23 55 0.005342625 Mouse Phenotype Single KO small external male genitalia 207 0.00007002871 0.0030978400843961348 5.306168 9 0.00234375 360 0.0055204831336111105 3.489338 8 10 0.001858304 Mouse Phenotype Single KO excessive folding of visceral yolk sac 208 0.00007078553 0.003116264895240385 3.341408 15 0.00390625 436 0.01042165940848624 3.019619 9 13 0.002090592 Mouse Phenotype abnormal external auditory canal morphology 16 2.232559e-12 1.3340935374375e-9 4.315843 35 0.009114583 565 0.004681989547964603 2.822259 11 17 0.002555168 Mouse Phenotype abnormal supraoccipital bone morphology 36 1.278466e-9 3.3953926183333336e-7 2.563446 54 0.0140625 318 0.0003000887919150943 2.589743 19 32 0.004413473 Mouse Phenotype small bulbourethral gland 39 1.826901e-9 4.478718066923077e-7 25.35854 8 0.002083333 298 0.0002437159859395973 4.361672 8 8 0.001858304 Mouse Phenotype abnormal thymus development 51 1.276377e-8 0.0000023928314700000002 2.787017 41 0.01067708 182 0.00000905555931098901 3.00805 20 29 0.004645761 Mouse Phenotype malocclusion 67 3.81818e-8 0.0000054485998477611936 2.215391 59 0.01536458 425 0.0012923270752235295 2.136329 24 49 0.005574913 Mouse Phenotype decreased circulating creatinine level 86 1.465263e-7 0.000016289976212790698 2.416978 45 0.01171875 1078 0.036221289740259746 1.700313 23 59 0.005342625 Mouse Phenotype thick interventricular septum 121 7.025779e-7 0.00005551526695785124 2.447825 39 0.01015625 595 0.005881372822689075 2.124917 19 39 0.004413473 Mouse Phenotype abnormal blinking 123 8.133433e-7 0.00006322256334390244 3.939535 19 0.004947917 952 0.026342412967436973 3.271254 6 8 0.001393728 Mouse Phenotype abnormal cellular replicative senescence 125 8.526297e-7 0.0000652159404936 2.195366 48 0.0125 959 0.026249441361835244 1.609665 31 84 0.007200929 Mouse Phenotype small vulva 133 0.00000109182 0.00007848790240601503 9.025243 9 0.00234375 298 0.0002437159859395973 4.361672 8 8 0.001858304 Mouse Phenotype abnormal pterygoid bone morphology 181 0.000004704308 0.0002484966231381215 2.683884 28 0.007291667 902 0.023360565136363632 2.617003 9 15 0.002090592 Mouse Phenotype small malleus 195 0.000006868974 0.00033679107904615387 2.884005 24 0.00625 535 0.003429403815700935 3.271254 9 12 0.002090592 Mouse Phenotype abnormal sublingual duct morphology 196 0.000006938918 0.00033848466835714286 4.372146 14 0.003645833 997 0.029439162899699098 3.634727 5 6 0.00116144 Mouse Phenotype abnormal third pharyngeal arch artery morphology 206 0.00000955022 0.0004432507447572815 2.530512 29 0.007552083 1006 0.02970317580715706 2.284686 11 21 0.002555168 Mouse Phenotype abnormal fourth pharyngeal arch artery morphology 216 0.00001261789 0.0005585168809722223 2.132854 40 0.01041667 412 0.0012190623094660194 2.584695 16 27 0.003716609 Mouse Phenotype absent tympanic ring 227 0.00001781009 0.0007501421607488987 2.199343 36 0.009375 1108 0.039749538224729236 2.295617 10 19 0.00232288 Mouse Phenotype small middle ear ossicles 229 0.0000191094 0.000797838311790393 2.704637 24 0.00625 773 0.013683374192755495 2.803932 9 14 0.002090592 Mouse Phenotype abnormal T-helper 2 cell number 236 0.00002391816 0.0009689895244067797 3.344477 17 0.004427083 1108 0.039749538224729236 2.295617 10 19 0.00232288 Mouse Phenotype abnormal fetal cardiomyocyte morphology 245 0.00002725851 0.0010637494453469387 2.128016 37 0.009635417 635 0.007597595198740157 2.180836 17 34 0.003948897 Mouse Phenotype small limb buds 249 0.0000280679 0.001077739726506024 2.206481 34 0.008854167 319 0.00030155873548589344 3.053171 14 20 0.003252033