# 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 negative regulation of cellular respiration 84 5.890079e-7 0.00009227089233452381 8.292528 10 0.006234414 604 0.04641597599337748 7.768722 3 3 0.001241208 GO Biological Process male meiosis I 111 0.000004527764 0.0005367643826666666 6.574732 10 0.006234414 507 0.025435664393096646 3.178113 9 22 0.003723624 GO Biological Process vascular smooth muscle cell differentiation 115 0.000005425189 0.0006207831482695652 4.462139 14 0.00872818 164 0.000060153832985365856 5.549087 10 14 0.00413736 GO Biological Process negative regulation of retinoic acid receptor signaling pathway 127 0.000008715974 0.0009030984398897638 4.971085 12 0.007481297 409 0.008625315895354523 5.179148 6 9 0.002482416 GO Biological Process artery development 138 0.00001649107 0.0015725071748550724 2.036466 43 0.02680798 148 0.0000338101299972973 2.759941 27 76 0.01117087 GO Biological Process positive regulation of multi-organism process 142 0.00002018816 0.0018708168833802819 2.058555 41 0.0255611 334 0.00253983986502994 1.928786 36 145 0.0148945 GO Biological Process dorsal aorta morphogenesis 144 0.00002116572 0.0019341646491666665 7.207442 8 0.004987531 547 0.03381328941864717 4.855451 5 8 0.00206868 GO Biological Process positive regulation of pri-miRNA transcription from RNA polymerase II promoter 151 0.00002402471 0.0020936500588741723 4.156408 13 0.008104738 245 0.00046347555595918367 4.272797 11 20 0.004551096 GO Biological Process mitral valve morphogenesis 154 0.00002536082 0.002167032664805195 4.852156 11 0.006857855 473 0.01660881407293869 4.661233 6 10 0.002482416 GO Biological Process mitral valve development 170 0.00004079738 0.0031579571965882356 4.600146 11 0.006857855 527 0.02922259331119545 4.237484 6 11 0.002482416 GO Biological Process regulation of retinoic acid receptor signaling pathway 171 0.00004131014 0.0031789481418713454 3.939002 13 0.008104738 622 0.048573148172025724 3.398816 7 16 0.002896152 GO Biological Process regulation of pri-miRNA transcription from RNA polymerase II promoter 189 0.00006937726 0.004830345843068783 2.942402 18 0.01122195 212 0.00023864094783018872 3.750417 14 29 0.005792305 GO Biological Process neural plate regionalization 198 0.00008940344 0.00594171649979798 6.908197 7 0.00436409 533 0.030339123763602253 6.214977 4 5 0.001654944 GO Biological Process tricuspid valve morphogenesis 204 0.0001015895 0.006553020737745098 5.744516 8 0.004987531 533 0.030339123763602253 6.214977 4 5 0.001654944 GO Biological Process artery morphogenesis 213 0.0001275822 0.00788194445915493 2.006079 35 0.02182045 178 0.00009276289196067415 2.946756 22 58 0.009102193 GO Biological Process regulation of response to oxidative stress 223 0.0001509714 0.008908666603587443 2.119394 30 0.01870324 493 0.021072699818255578 2.065103 21 79 0.008688457 GO Biological Process vascular smooth muscle cell development 235 0.0001854265 0.010383094951063829 6.126724 7 0.00436409 547 0.03381328941864717 4.855451 5 8 0.00206868 GO Biological Process regulation of oxidative stress-induced cell death 268 0.0002936702 0.014419425976865673 2.246166 24 0.01496259 542 0.033387272153136534 2.165054 17 61 0.007033513 GO Biological Process endocardial cushion formation 281 0.0003579429 0.016762173028825624 3.338547 12 0.007481297 347 0.0033241203978674355 4.112853 9 17 0.003723624 GO Biological Process metanephric nephron tubule morphogenesis 298 0.0004643046 0.02050263164899329 4.089962 9 0.005610973 547 0.03381328941864717 4.855451 5 8 0.00206868 GO Cellular Component PcG protein complex 43 0.0001840696 0.007397029506976744 2.71526 18 0.01122195 11 0.018561390545454547 2.702164 16 46 0.006619777 Human Phenotype Abnormality of the distal phalanx of the thumb 2 2.671951e-7 0.00089149645115 4.712946 17 0.0105985 99 0.005908391483030302 4.112853 9 17 0.003723624 Human Phenotype Optic atrophy 5 7.256214e-7 0.00096841432044 2.010805 59 0.03678304 157 0.0189066109 1.649021 45 212 0.01861812 Human Phenotype Abnormality of the elbow 23 0.00001419996 0.004119840568695653 2.011904 45 0.02805486 119 0.010619883235294118 1.958501 30 119 0.01241208 Human Phenotype Abnormality of the phalanges of the toes 31 0.00001821914 0.0039218168135483865 2.641734 25 0.01558603 126 0.012763701309523808 2.885525 13 35 0.005378568 Human Phenotype Hypoplastic ilia 45 0.0000283895 0.004209847411111111 2.941578 20 0.01246883 193 0.02464136635492228 2.741902 12 34 0.004964832 Human Phenotype Abnormality of the ilium 78 0.00008656487 0.007405735609102564 2.39243 25 0.01558603 148 0.01719077970472973 2.330616 18 60 0.007447249 Human Phenotype Rectal prolapse 128 0.0002632983 0.013726480905468751 4.01862 10 0.006234414 220 0.03549808511363637 4.237484 6 11 0.002482416 Human Phenotype Metaphyseal widening 150 0.000353525 0.015727148833333333 2.365284 21 0.01309227 218 0.03499367115137615 2.259992 16 55 0.006619777 Human Phenotype Mandibular prognathia 153 0.0003682632 0.016061570807843137 2.035047 29 0.0180798 164 0.021234299780487804 2.084291 22 82 0.009102193 Human Phenotype Abnormality of the wrist 165 0.0004211612 0.017032779924848484 2.078298 27 0.01683292 204 0.027166414318137256 2.099654 20 74 0.008274721 Human Phenotype Abnormality of the humeroradial joint 205 0.0007400875 0.024090750670731707 2.282837 20 0.01246883 106 0.007556461133018868 3.060405 13 33 0.005378568 Human Phenotype Abnormality of the carpal bones 256 0.001247638 0.032521438960937496 2.093545 22 0.01371571 139 0.014003928995683453 2.445709 17 54 0.007033513 Human Phenotype Abnormality of the wing of the ilium 266 0.001466668 0.03679351715789474 2.261218 18 0.01122195 233 0.039137431394849785 2.463253 13 41 0.005378568 Human Phenotype Accelerated skeletal maturation 301 0.002122794 0.04706114405980066 2.475038 14 0.00872818 173 0.02259997368265896 2.946756 11 29 0.004551096 Mouse Phenotype Single KO abnormal neuropore morphology 15 7.205618e-8 0.00004398789601733333 2.716572 38 0.02369077 72 0.00002876024200972222 2.885525 26 70 0.01075714 Mouse Phenotype Single KO incomplete rostral neuropore closure 25 2.960935e-7 0.00010845312717999998 2.643652 36 0.02244389 102 0.00012603560138235294 2.782826 24 67 0.009929665 Mouse Phenotype Single KO abnormal parietal yolk sac morphology 37 0.000001606992 0.0003977088038918919 2.197302 45 0.02805486 187 0.0021080682268983957 1.98471 35 137 0.01448076 Mouse Phenotype Single KO pale yolk sac 43 0.000002147755 0.0004573719194186046 2.295966 40 0.02493766 180 0.0018051936834444446 2.31212 25 84 0.0103434 Mouse Phenotype Single KO abnormal trophectoderm morphology 46 0.000002516658 0.0005009790718695652 2.253679 41 0.0255611 183 0.001827127233715847 2.071659 32 120 0.01323955 Mouse Phenotype Single KO abnormal trophoblast layer morphology 71 0.00001224235 0.0015789182950704224 2.006503 46 0.0286783 224 0.003869818512678571 1.914826 35 142 0.01448076 Mouse Phenotype Single KO abnormal ectoplacental cone morphology 81 0.00002318138 0.0026206406995061726 2.985254 20 0.01246883 109 0.00017790236401834863 3.386366 17 39 0.007033513 Mouse Phenotype Single KO absent mesoderm 83 0.00002411149 0.002660107396746988 2.354888 30 0.01870324 159 0.0013007288135220125 2.589574 21 63 0.008688457 Mouse Phenotype Single KO small pharyngeal arch 95 0.00003715364 0.0035812198050526314 2.526435 25 0.01558603 100 0.00012426314553 3.475481 17 38 0.007033513 Mouse Phenotype Single KO abnormal liver sinusoid morphology 98 0.00004694153 0.0043861590837755106 2.607073 23 0.01433915 307 0.014140254313680782 2.23645 19 66 0.007860985 Mouse Phenotype Single KO abnormal vascular endothelial cell development 100 0.00004796055 0.0043917475635 2.924386 19 0.01184539 275 0.008846727541818183 3.007247 12 31 0.004964832 Mouse Phenotype Single KO abnormal Mullerian duct morphology 104 0.00005878463 0.005175873624134616 2.981954 18 0.01122195 200 0.0024755377187500004 3.107489 14 35 0.005792305 Mouse Phenotype Single KO enlarged liver sinusoidal spaces 105 0.00005957089 0.005195148949809524 3.096134 17 0.0105985 233 0.004353115968669528 2.939516 14 37 0.005792305 Mouse Phenotype Single KO decreased IgG2b level 109 0.00006784232 0.005699377286605504 2.381868 26 0.01620948 242 0.006000211279338843 2.354158 20 66 0.008274721 Mouse Phenotype Single KO absent ductus venosus valve 124 0.00009833105 0.007261430845564516 3.607984 13 0.008104738 352 0.02549404272130682 3.178113 9 22 0.003723624 Mouse Phenotype Single KO small superior cervical ganglion 126 0.0001086324 0.007894816561904761 3.571221 13 0.008104738 406 0.03413831093842364 2.670498 11 32 0.004551096 Mouse Phenotype Single KO abnormal biliary tract morphology 127 0.0001112621 0.008022260233858268 2.227286 28 0.01745636 218 0.0033984302692201835 2.399164 21 68 0.008688457 Mouse Phenotype Single KO abnormal myocardium compact layer morphology 128 0.000116767 0.0083534017109375 2.151953 30 0.01870324 238 0.005589544376890756 2.497089 18 56 0.007447249 Mouse Phenotype Single KO abnormal bile duct morphology 134 0.0001456494 0.009953071311940299 2.410927 23 0.01433915 202 0.0025432062488118814 2.751422 17 48 0.007033513 Mouse Phenotype Single KO decreased renal glomerulus number 139 0.0001713586 0.011288710073381295 2.438987 22 0.01371571 161 0.0013322047231055902 3.48253 13 29 0.005378568 Mouse Phenotype abnormal neuropore morphology 32 6.283983e-9 0.0000018775362957187499 2.505148 51 0.03179551 94 0.0000024794358217021274 2.695271 34 98 0.01406703 Mouse Phenotype incomplete rostral neuropore closure 37 2.377559e-8 0.000006143740972702703 2.451546 49 0.03054863 120 0.0000109212116 2.616833 32 95 0.01323955 Mouse Phenotype pale yolk sac 44 6.769013e-8 0.000014708757566590909 2.366604 49 0.03054863 216 0.00035318351705555557 2.284918 30 102 0.01241208 Mouse Phenotype abnormal parietal yolk sac morphology 69 0.000001016068 0.00014079168330434784 2.131899 50 0.03117207 297 0.001523672508080808 1.916957 38 154 0.01572197 Mouse Phenotype abnormal trophectoderm morphology 71 0.000001117181 0.0001504417963521127 2.2059 46 0.0286783 269 0.0010977506578438662 2.014113 35 135 0.01448076 Mouse Phenotype thin myocardium compact layer 102 0.000007616137 0.000713900841735294 2.660522 27 0.01683292 263 0.0009627109043726236 2.79674 18 50 0.007447249 Mouse Phenotype subcutaneous edema 106 0.000008939011 0.0008062819261415095 4.009361 15 0.009351621 787 0.03870827341296061 2.589574 10 30 0.00413736 Mouse Phenotype enophthalmos 107 0.00001015054 0.0009070029246728971 4.89441 12 0.007481297 808 0.040882445513613856 3.585564 6 13 0.002482416 Mouse Phenotype increased squamous cell carcinoma incidence 108 0.00001084698 0.0009602590350000001 2.954978 22 0.01371571 524 0.010586849684541986 2.390376 16 52 0.006619777 Mouse Phenotype abnormal myocardium compact layer morphology 118 0.00001441526 0.001168002549661017 2.186728 37 0.02306733 217 0.0003759915240691244 2.489975 25 78 0.0103434 Mouse Phenotype abnormal pituitary gland development 122 0.00001647176 0.001290872929180328 2.364791 31 0.01932668 247 0.0007451549215384615 2.853816 18 49 0.007447249 Mouse Phenotype enlarged liver sinusoidal spaces 123 0.00001656382 0.001287534008292683 3.058489 20 0.01246883 199 0.00023428831724623113 3.221177 17 41 0.007033513 Mouse Phenotype abnormal adenohypophysis development 125 0.00001800072 0.00137683907136 2.481542 28 0.01745636 295 0.0014961483855254237 2.890687 16 43 0.006619777 Mouse Phenotype abnormal Mullerian duct morphology 135 0.00002682842 0.0019000483231111109 2.639678 24 0.01496259 238 0.0006055772693697479 3.001552 17 44 0.007033513 Mouse Phenotype abnormal liver sinusoid morphology 148 0.00003847933 0.0024858167170945947 2.374301 28 0.01745636 266 0.000991384762669173 2.390376 24 78 0.009929665 Mouse Phenotype abnormal vascular endothelial cell development 153 0.00004365705 0.0027281376147058824 2.619868 23 0.01433915 341 0.002451278900410557 2.762212 16 45 0.006619777 Mouse Phenotype abnormal ectoplacental cone morphology 160 0.00004936097 0.0029496264635625003 2.740656 21 0.01309227 206 0.00031955247608737863 3.039935 18 46 0.007447249 Mouse Phenotype small pharyngeal arch 162 0.00005139182 0.0030330690803703703 2.131257 34 0.02119701 96 0.0000026617754284375 3.236967 25 60 0.0103434 Mouse Phenotype abnormal metacarpal bone morphology 163 0.00005285449 0.003100256312208589 2.330019 28 0.01745636 143 0.00004272691888951049 3.354675 19 44 0.007860985 Mouse Phenotype abnormal spongiotrophoblast layer morphology 178 0.00007672103 0.0041209537518539325 2.319199 27 0.01683292 690 0.026506445278260873 2.056426 18 68 0.007447249