# 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 regulation of axon extension 84 3.895245e-8 0.000006102086780357143 2.029309 72 0.02375454 229 0.00009281812702620087 2.226426 33 76 0.009011469 GO Biological Process compartment pattern specification 111 4.368806e-7 0.000051791998336936936 7.502206 11 0.003629165 452 0.0081957745539823 5.127526 5 5 0.001365374 GO Biological Process negative regulation of inner ear receptor cell differentiation 118 6.825422e-7 0.0000761150238118644 7.163006 11 0.003629165 606 0.03137225029867987 5.127526 4 4 0.001092299 GO Biological Process regulation of retinoic acid receptor signaling pathway 120 7.036057e-7 0.00007715622838583333 3.527637 22 0.007258331 578 0.027664315958477508 2.884233 9 16 0.002457673 GO Biological Process negative regulation of hematopoietic progenitor cell differentiation 121 7.432051e-7 0.00008082509017272728 7.099792 11 0.003629165 596 0.03123917897483221 4.272938 5 6 0.001365374 GO Biological Process paraxial mesoderm development 187 0.000009026018 0.0006351517158395722 2.911511 23 0.007588255 664 0.042353351295180725 2.714573 9 17 0.002457673 GO Biological Process cellular response to epinephrine stimulus 208 0.00001810789 0.0011455852139903846 3.153657 19 0.006268558 400 0.00442067722675 3.549826 9 13 0.002457673 GO Biological Process regulation of antigen receptor-mediated signaling pathway 214 0.00001884147 0.0011585743164953272 2.250534 34 0.01121742 504 0.014742698704563491 2.031661 21 53 0.005734571 GO Biological Process paraxial mesoderm morphogenesis 220 0.00002357312 0.0014099940276363636 2.987056 20 0.006598482 523 0.018451876887954112 3.589268 7 10 0.001911524 GO Biological Process heterochromatin assembly 227 0.00003067236 0.0017780510362995594 4.755493 11 0.003629165 523 0.018451876887954112 3.589268 7 10 0.001911524 GO Biological Process chorio-allantoic fusion 231 0.00003201216 0.0018235844737662338 3.264611 17 0.00560871 294 0.00047809511544217686 5.127526 7 7 0.001911524 GO Biological Process embryonic placenta morphogenesis 252 0.00004866618 0.002541262946904762 2.346743 28 0.009237875 248 0.00016073474421774195 3.155401 16 26 0.004369197 GO Biological Process heterochromatin organization 286 0.0000830556 0.0038214288125874127 3.929993 12 0.003959089 564 0.024287804281914894 3.155401 8 13 0.002184599 GO Biological Process regulation of membrane depolarization 291 0.00008797445 0.003978198582646048 2.160845 31 0.01022765 593 0.031068398999999997 2.075427 17 42 0.004642272 GO Biological Process foregut morphogenesis 307 0.0001250784 0.005361259497068404 2.808437 18 0.005938634 523 0.018451876887954112 3.589268 7 10 0.001911524 GO Biological Process labyrinthine layer morphogenesis 313 0.0001381459 0.0058078654891373805 2.324148 25 0.008248103 320 0.0009942015157812499 3.174183 13 21 0.003549973 GO Biological Process B cell receptor signaling pathway 370 0.0002763477 0.009828268606216217 2.177793 26 0.008578027 473 0.010713370638689218 2.344012 16 35 0.004369197 GO Biological Process midgut development 406 0.0003847541 0.012470392122906404 2.412881 20 0.006598482 620 0.035583527814516125 3.262971 7 11 0.001911524 GO Biological Process neuroblast proliferation 417 0.0004181059 0.013193898172901678 2.0227 29 0.009567799 680 0.047263122245588235 2.221928 13 30 0.003549973 GO Biological Process cell surface receptor signaling pathway involved in heart development 425 0.0004536061 0.014044712164470589 2.105396 26 0.008578027 407 0.004827480994840295 2.930015 12 21 0.003276898 GO Cellular Component main axon 31 0.000002643798 0.0001473704175483871 2.017647 53 0.01748598 8 0.00404025192 2.197511 27 63 0.00737302 Human Phenotype Bronchomalacia 13 0.000004956598 0.002544259881076923 3.336381 20 0.006598482 79 0.011350629403797469 3.549826 9 13 0.002457673 Human Phenotype Lumbar hyperlordosis 15 0.000008337153 0.0037089214646 2.598387 28 0.009237875 118 0.02551304489745763 2.197511 18 42 0.004915347 Human Phenotype Neoplasm of the central nervous system 17 0.00001098809 0.004313148504117647 2.16886 39 0.01286704 139 0.04247320333381295 2.010794 20 51 0.005461496 Human Phenotype Malignant neoplasm of the central nervous system 31 0.00004271726 0.009195234709032258 2.457168 26 0.008578027 116 0.024033488305172414 2.403528 15 32 0.004096122 Human Phenotype Broad palm 44 0.00009215638 0.01397635281227273 2.623562 21 0.006928406 77 0.010770447322077922 3.133488 11 18 0.003003823 Human Phenotype Bicuspid aortic valve 45 0.00009601388 0.01423779158311111 2.252371 28 0.009237875 84 0.013077117820238095 2.486073 16 33 0.004369197 Human Phenotype Abnormality of the rectum 72 0.0004035591 0.0374020815875 2.243482 23 0.007588255 145 0.047290032317241375 2.315657 14 31 0.003823048 Mouse Phenotype Single KO sporadic seizures 29 3.64099e-7 0.00011496739803448276 3.236498 26 0.008578027 583 0.03156562401543739 2.452295 11 23 0.003003823 Mouse Phenotype Single KO sirenomelia 35 6.567245e-7 0.00017181789275714287 5.84738 13 0.004289014 341 0.007559696959530792 5.127526 5 5 0.001365374 Mouse Phenotype Single KO abnormal fourth pharyngeal arch artery morphology 49 0.000003616588 0.0006758591084897959 2.781656 27 0.008907951 196 0.0011760325756122447 3.525174 11 16 0.003003823 Mouse Phenotype Single KO abnormal gastric chief cell morphology 57 0.000006304092 0.001012746849894737 3.281001 20 0.006598482 674 0.04808890935163205 2.563763 9 18 0.002457673 Mouse Phenotype Single KO kinked neural tube 89 0.00001332311 0.0013707833513483146 2.201195 37 0.01220719 460 0.017611813370869565 2.010794 20 51 0.005461496 Mouse Phenotype Single KO enlarged myocardial fiber 95 0.00001705931 0.0016443379123157894 2.448877 29 0.009567799 571 0.029995942520140102 2.136469 15 36 0.004096122 Mouse Phenotype Single KO abnormal gastric surface mucous cell morphology 97 0.00001782502 0.0016827186406185568 5.051703 11 0.003629165 478 0.020431987280334726 3.845644 6 8 0.001638449 Mouse Phenotype Single KO vestigial tail 103 0.00002433513 0.0021634639360194174 3.895246 14 0.004618938 514 0.025206530908560308 4.272938 5 6 0.001365374 Mouse Phenotype Single KO small alisphenoid bone 110 0.00002783726 0.002317325362 3.455395 16 0.005278786 169 0.0005787689977514793 5.127526 7 7 0.001911524 Mouse Phenotype Single KO small pterygoid bone 128 0.00004816158 0.00344543428171875 3.883904 13 0.004289014 341 0.007559696959530792 5.127526 5 5 0.001365374 Mouse Phenotype Single KO abnormal fourth pharyngeal arch morphology 141 0.00006251701 0.004060058585602837 2.353769 27 0.008907951 435 0.01622160865954023 2.685847 11 21 0.003003823 Mouse Phenotype Single KO abnormal pterygoid bone morphology 145 0.00007146612 0.004513208695448276 2.840179 19 0.006268558 181 0.0007669073504972375 4.195248 9 11 0.002457673 Mouse Phenotype Single KO alisphenoid bone hypoplasia 147 0.00007232869 0.004505536151904761 4.314727 11 0.003629165 526 0.025151441374524717 5.127526 4 4 0.001092299 Mouse Phenotype Single KO abnormal presphenoid bone morphology 207 0.0001948826 0.008620966029951691 2.06306 31 0.01022765 550 0.02798903646363636 2.298546 13 29 0.003549973 Mouse Phenotype Single KO dilated proximal convoluted tubules 239 0.0002937535 0.011254815060669457 2.29657 23 0.007588255 498 0.023369712090361445 2.563763 11 22 0.003003823 Mouse Phenotype Single KO decreased spongiotrophoblast size 254 0.0003619666 0.0130493234496063 3.149911 13 0.004289014 430 0.015645688531627906 2.848626 10 18 0.002730748 Mouse Phenotype Single KO abnormal alisphenoid bone morphology 267 0.0004216482 0.01446079613258427 2.152725 25 0.008248103 117 0.00010331749182051282 3.589268 14 20 0.003823048 Mouse Phenotype Single KO abnormal hindgut morphology 276 0.0004629558 0.01535973282826087 2.686819 16 0.005278786 304 0.005855567149013158 3.72911 8 11 0.002184599 Mouse Phenotype Single KO absent alisphenoid bone 287 0.0005235351 0.016703870768989548 3.678853 10 0.003299241 526 0.025151441374524717 5.127526 4 4 0.001092299 Mouse Phenotype Single KO abnormal white fat cell number 288 0.0005281959 0.016794062001041665 2.653386 16 0.005278786 430 0.015645688531627906 2.848626 10 18 0.002730748 Mouse Phenotype extramedullary hematopoiesis 16 2.168595e-11 1.2958710496875e-8 2.106061 98 0.03233256 909 0.024781544019801982 1.465007 50 175 0.01365374 Mouse Phenotype sporadic seizures 32 1.922749e-10 5.7448134965625e-8 3.491027 37 0.01220719 872 0.02050842175114679 2.136469 15 36 0.004096122 Mouse Phenotype stomach mucosa hyperplasia 59 5.749134e-8 0.000009316520368474576 4.705449 19 0.006268558 883 0.021811629489241223 2.930015 8 14 0.002184599 Mouse Phenotype kidney failure 66 1.055271e-7 0.00001528703944090909 2.473198 44 0.01451666 1122 0.047351721681818185 1.709175 22 66 0.006007646 Mouse Phenotype small alisphenoid bone 97 0.000001999036 0.00019703900202061854 2.810221 28 0.009237875 340 0.0007078587584117647 3.525174 11 16 0.003003823 Mouse Phenotype increased immature B cell number 104 0.000003242061 0.0002980513963557692 2.085776 48 0.01583636 917 0.02557151487022901 1.786865 23 66 0.006280721 Mouse Phenotype abnormal mesenchymal cell proliferation involved in lung development 112 0.000004750088 0.00040549635150000004 2.802916 26 0.008578027 614 0.006159806609120522 3.016192 10 17 0.002730748 Mouse Phenotype abnormal kidney cell proliferation 114 0.000005230485 0.0004386725182894737 2.145461 43 0.01418674 170 0.000024578445827647055 2.734681 24 45 0.006553796 Mouse Phenotype abnormal alisphenoid bone morphology 129 0.000007587201 0.0005623351066744186 2.205605 39 0.01286704 158 0.000014902234496202533 3.107591 20 33 0.005461496 Mouse Phenotype abnormal B-1a B cell morphology 147 0.0000114356 0.0007437807591836734 2.117929 41 0.01352689 328 0.0006117151119512194 2.221928 26 60 0.007099945 Mouse Phenotype dry eyes 148 0.00001203992 0.0007777951021621622 3.250522 19 0.006268558 1153 0.049331152857762364 2.563763 8 16 0.002184599 Mouse Phenotype abnormal fourth pharyngeal arch artery morphology 149 0.00001258263 0.0008073994995302013 2.296811 34 0.01121742 264 0.0002204285652727273 3.038534 16 27 0.004369197 Mouse Phenotype increased B-1a cell number 158 0.00001604568 0.0009709667498734177 3.308269 18 0.005938634 1126 0.047315809651865014 2.428828 9 19 0.002457673 Mouse Phenotype abnormal transitional stage T2 B cell morphology 159 0.00001719652 0.001034062438490566 2.792541 23 0.007588255 856 0.018777033311915887 2.298546 13 29 0.003549973 Mouse Phenotype decreased organ of Corti supporting cell number 163 0.00001845327 0.0010824031562576687 2.857419 22 0.007258331 520 0.0035742860786538463 3.72911 8 11 0.002184599 Mouse Phenotype progressive hair loss 164 0.00001890128 0.0011019215736585365 2.775311 23 0.007588255 995 0.03209723790452261 2.441679 10 21 0.002730748 Mouse Phenotype increased lung squamous cell carcinoma incidence 169 0.00002267877 0.0012830279288165679 11.0174 6 0.001979545 816 0.016928113724264705 5.127526 4 4 0.001092299 Mouse Phenotype increased B-1 B cell number 175 0.0000257072 0.0014044945097142858 2.352192 30 0.009897724 801 0.0167117327752809 2.075427 17 42 0.004642272 Mouse Phenotype abnormal organ of Corti supporting cell number 181 0.00002943991 0.0015551103840331492 2.768038 22 0.007258331 741 0.013431656659919026 3.155401 8 13 0.002184599 Mouse Phenotype decreased B-1a cell number 187 0.00003086541 0.0015780972460427806 2.194334 34 0.01121742 427 0.001669464122880562 2.291022 21 47 0.005734571