# 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 mesoderm morphogenesis 109 3.155786e-12 3.8098154104587155e-10 2.20819 96 0.02373887 209 0.000007565310577511963 2.225647 37 69 0.008178603 GO Biological Process mesoderm formation 112 5.795034e-12 6.80864753625e-10 2.226226 92 0.02274975 241 0.00003298992968962656 2.168188 35 67 0.007736516 GO Biological Process labyrinthine layer development 118 1.610185e-11 1.7956291877118642e-9 2.623538 64 0.01582591 459 0.007903734033333333 1.988796 23 48 0.005083996 GO Biological Process embryonic placenta development 162 1.402894e-9 1.1395482806172839e-7 2.019808 89 0.02200791 552 0.02368454797336957 1.632231 35 89 0.007736516 GO Biological Process positive regulation of epithelial to mesenchymal transition 170 2.554192e-9 1.9770948545882353e-7 2.153195 74 0.01829871 610 0.03345587304262295 1.886605 20 44 0.004420866 GO Biological Process mitochondrial membrane organization 207 2.532773e-8 0.0000016100850196618358 2.021653 75 0.01854599 608 0.03320747236513158 1.506241 45 124 0.00994695 GO Biological Process labyrinthine layer morphogenesis 218 5.42593e-8 0.0000032752207738532106 2.71746 39 0.009643917 453 0.00721563743245033 2.569376 13 21 0.002873563 GO Biological Process response to epidermal growth factor 257 2.602559e-7 0.000013325709681322955 2.36643 45 0.0111276 665 0.04272596699398496 1.877621 19 42 0.004199823 GO Biological Process embryonic placenta morphogenesis 260 2.693385e-7 0.000013631635851923078 2.51271 40 0.009891197 560 0.024174398899999998 2.234901 14 26 0.003094607 GO Biological Process DNA recombinase assembly 383 0.000005604018 0.0001925411824073107 4.457451 14 0.003461919 472 0.00877004973559322 3.320424 8 10 0.001768347 GO Biological Process chorio-allantoic fusion 449 0.0000127043 0.00037232936236080176 3.022572 21 0.005192878 567 0.025157965686067017 3.557598 6 7 0.00132626 GO Biological Process maintenance of protein location in nucleus 473 0.00002404167 0.0006688463753276955 3.683701 15 0.003709199 583 0.02717523097941681 2.594082 10 16 0.002210433 GO Biological Process regulation of pri-miRNA transcription from RNA polymerase II promoter 487 0.00002863621 0.0007737656825256673 2.204457 34 0.008407517 576 0.026995871263888888 2.146826 15 29 0.00331565 GO Biological Process apoptotic mitochondrial changes 498 0.0000346156 0.000914672048995984 2.03631 40 0.009891197 510 0.015232995150392155 1.829047 26 59 0.005747126 GO Biological Process cell migration in hindbrain 615 0.0001318984 0.0028221968221138214 2.288404 26 0.006429278 614 0.034717428276872964 2.668198 9 14 0.00198939 GO Biological Process ureter development 648 0.0001719892 0.003492601670987655 2.140073 29 0.007171118 656 0.043098573442073164 2.76702 8 12 0.001768347 GO Biological Process regulation of cell cycle checkpoint 675 0.0002421422 0.004720517347851852 2.065486 30 0.007418398 590 0.029133066954237286 2.075265 16 32 0.003536693 GO Biological Process regulation of release of cytochrome c from mitochondria 729 0.0003568637 0.006441659023731138 2.106685 27 0.006676558 668 0.04267761156437126 1.84468 20 45 0.004420866 GO Biological Process negative regulation of pri-miRNA transcription from RNA polymerase II promoter 793 0.0005505044 0.009135040856998738 2.406181 19 0.004698318 390 0.0030999661782564105 3.395889 9 11 0.00198939 GO Biological Process strand invasion 908 0.0009931554 0.014393096815638766 3.670996 9 0.002225519 567 0.025157965686067017 3.557598 6 7 0.00132626 GO Cellular Component cleavage furrow 59 0.000001346357 0.00003943228637288135 2.351533 40 0.009891197 53 0.004619644981132075 1.995447 25 52 0.005526083 GO Cellular Component cell division site part 69 0.000008017122 0.0002007766205217391 2.109085 43 0.01063304 74 0.025350927567567568 1.769079 26 61 0.005747126 GO Molecular Function recombinase activity 208 0.001925236 0.039078588423076925 3.08435 10 0.002472799 67 0.01868922492835821 3.631714 7 8 0.001547303 Human Phenotype Abnormality of the spinal cord 4 2.697288e-10 4.499750706e-7 2.101879 88 0.02176063 9 0.001900522301111111 1.902326 44 96 0.009725906 Human Phenotype Abnormality of the phalanges of the toes 46 3.818633e-7 0.00005539508262826087 2.179444 52 0.01285856 105 0.027044226360952384 2.134559 18 35 0.00397878 Human Phenotype Choanal stenosis 61 8.34404e-7 0.00009127832609836065 2.880566 29 0.007171118 163 0.04928927525766871 2.594082 10 16 0.002210433 Human Phenotype Progressive visual loss 74 0.000001395009 0.00012579587914864865 2.694798 31 0.007665678 146 0.045656821398630136 2.019177 18 37 0.00397878 Human Phenotype Abnormality of peripheral nerve conduction 113 0.000003046652 0.00017991423713274336 2.024893 52 0.01285856 56 0.010244427731428571 1.870662 32 71 0.007073386 Human Phenotype Decreased nerve conduction velocity 128 0.000005153159 0.00026864867192968753 2.017059 50 0.012364 61 0.012970047555737706 1.864731 31 69 0.006852343 Human Phenotype Vertebral fusion 143 0.000007851293 0.00036637537195104896 2.230551 38 0.009396637 153 0.04590321808496732 1.971502 19 40 0.004199823 Human Phenotype Abnormality of the choanae 148 0.00000855764 0.0003858454845945946 2.010096 48 0.01186944 60 0.012317857525 2.123527 22 43 0.004862953 Human Phenotype Rib fusion 202 0.00002438316 0.000805489240990099 2.730695 23 0.005687438 108 0.027235126591666665 2.685637 11 17 0.002431477 Human Phenotype Choanal atresia 271 0.0001057389 0.0026036740948339483 2.009936 36 0.008902077 146 0.045656821398630136 2.019177 18 37 0.00397878 Human Phenotype Synostosis involving bones of the feet 323 0.000196052 0.00405032506501548 2.191228 27 0.006676558 4 0.0009619890222000001 3.597126 13 15 0.002873563 Human Phenotype Tarsal synostosis 354 0.0003234674 0.006097451864971752 2.386772 21 0.005192878 31 0.005677280770967742 3.458775 10 12 0.002210433 Human Phenotype Humeroradial synostosis 553 0.001872999 0.02260130619710669 2.213634 18 0.004451039 154 0.0457046336038961 3.22819 7 9 0.001547303 Human Phenotype Impaired proprioception 701 0.004089708 0.03893098642510699 2.224024 15 0.003709199 163 0.04928927525766871 2.594082 10 16 0.002210433 Mouse Phenotype Single KO small basisphenoid bone 64 2.01798e-10 2.887287946875e-8 3.642725 35 0.008654797 458 0.014716112733406114 2.873444 9 13 0.00198939 Mouse Phenotype Single KO enlarged liver sinusoidal spaces 84 7.88607e-10 8.596755117857142e-8 3.033984 42 0.01038576 296 0.0025792308442905408 2.24353 20 37 0.004420866 Mouse Phenotype Single KO abnormal CD5-positive Ly6C-positive T cell number 93 3.133436e-9 3.085255209892473e-7 4.646487 23 0.005687438 669 0.04717173115246637 3.112898 6 8 0.00132626 Mouse Phenotype Single KO incomplete rostral neuropore closure 95 5.390834e-9 5.196196519789474e-7 2.126267 73 0.01805143 491 0.01923279584928717 1.73455 28 67 0.006189213 Mouse Phenotype Single KO abnormal neuropore morphology 97 7.244699e-9 6.839145231237114e-7 2.098276 74 0.01829871 487 0.018789517181108828 1.719505 29 70 0.006410256 Mouse Phenotype Single KO abnormal basisphenoid bone morphology 105 1.256848e-8 0.0000010960911558095238 2.105776 71 0.01755687 181 0.00040103956727071825 2.316575 24 43 0.00530504 Mouse Phenotype Single KO abnormal sternebra morphology 106 1.640216e-8 0.0000014169299916981133 2.14406 67 0.01656775 156 0.00017753409633974358 2.287027 27 49 0.00596817 Mouse Phenotype Single KO fused carpal bones 109 1.836193e-8 0.0000015425705780733944 3.791073 26 0.006429278 477 0.017439243500209645 3.018568 8 11 0.001768347 Mouse Phenotype Single KO abnormal metanephros morphology 110 1.879809e-8 0.0000015648555466363635 2.832583 39 0.009643917 440 0.01351143445340909 2.490318 12 20 0.00265252 Mouse Phenotype Single KO abnormal fibula morphology 119 2.989215e-8 0.0000023001883827731094 2.249993 58 0.01434224 289 0.002511881384394464 2.121382 23 45 0.005083996 Mouse Phenotype Single KO abnormal pulmonary valve cusp morphology 123 3.730098e-8 0.00000277695182 2.950802 35 0.008654797 218 0.0007799281528899082 2.905371 14 20 0.003094607 Mouse Phenotype Single KO abnormal liver development 143 8.97265e-8 0.0000057456332902097905 2.08477 64 0.01582591 465 0.01577612071139785 1.902326 22 48 0.004862953 Mouse Phenotype Single KO abnormal thymus involution 152 1.004436e-7 0.000006051066086842105 3.972503 22 0.005440158 458 0.014716112733406114 2.873444 9 13 0.00198939 Mouse Phenotype Single KO small superior cervical ganglion 163 1.325597e-7 0.000007446927441104293 3.159836 29 0.007171118 529 0.022610640962192813 2.075265 16 32 0.003536693 Mouse Phenotype Single KO abnormal thyroid cartilage morphology 169 1.683533e-7 0.000009121959574556214 2.766061 35 0.008654797 474 0.017131056625527427 2.536435 11 18 0.002431477 Mouse Phenotype Single KO abnormal scapula morphology 184 2.435462e-7 0.000012120394311956524 2.078717 60 0.0148368 275 0.002280340405490909 2.319414 19 34 0.004199823 Mouse Phenotype Single KO abnormal larynx morphology 187 2.602652e-7 0.000012744644044919785 2.089114 59 0.01458952 184 0.00042202458119021733 2.402939 22 38 0.004862953 Mouse Phenotype Single KO abnormal thyroid gland morphology 216 7.558399e-7 0.00003204271279768519 2.146508 51 0.01261128 570 0.03166302640526316 1.729388 25 60 0.005526083 Mouse Phenotype Single KO abnormal superior cervical ganglion morphology 233 0.000001166026 0.000045825322240343346 2.365782 40 0.009891197 279 0.0022953139688888886 2.174087 22 42 0.004862953 Mouse Phenotype Single KO abnormal extracellular matrix morphology 240 0.000001338818 0.00005108148510833333 2.200787 46 0.01137488 312 0.003250602927884615 2.123527 22 43 0.004862953 Mouse Phenotype abnormal keratinocyte physiology 90 2.914497e-11 3.0961673130000003e-9 2.178537 90 0.02225519 909 0.047234064201320126 1.469214 40 113 0.008841733 Mouse Phenotype incomplete rostral neuropore closure 103 1.705155e-10 1.5828142674757282e-8 2.004281 101 0.02497527 731 0.024113613681258552 1.572833 36 95 0.00795756 Mouse Phenotype abnormal keratinocyte proliferation 108 2.835505e-10 2.510209565277778e-8 2.420479 65 0.01607319 723 0.022334138950207468 1.671741 29 72 0.006410256 Mouse Phenotype small basisphenoid bone 109 2.863647e-10 2.5118650428440365e-8 3.443128 37 0.009149357 541 0.0077900111983364145 2.685637 11 17 0.002431477 Mouse Phenotype enlarged liver sinusoidal spaces 124 5.799318e-10 4.4715547901612904e-8 2.850808 47 0.01162216 436 0.0033957645811926603 2.125881 21 41 0.00464191 Mouse Phenotype abnormal CD5-positive Ly6C-positive T cell number 142 3.133436e-9 2.1097733518309858e-7 4.646487 23 0.005687438 843 0.039086831071174374 3.112898 6 8 0.00132626 Mouse Phenotype abnormal sternebra morphology 158 9.997372e-9 6.049675550126582e-7 2.047331 77 0.01904055 175 0.00002838153893828571 2.204969 34 64 0.007515473 Mouse Phenotype absent teeth 194 6.166735e-8 0.000003039183161597938 3.000499 33 0.008160237 878 0.044141797588838266 2.30585 10 18 0.002210433 Mouse Phenotype increased gamma-delta T cell number 197 6.71568e-8 0.000003259320633502538 2.3327 51 0.01261128 877 0.04385807311402509 1.766183 20 47 0.004420866 Mouse Phenotype abnormal pulmonary valve cusp morphology 200 8.719038e-8 0.0000041681361159 2.796883 36 0.008902077 539 0.0077539337493506486 2.30585 15 27 0.00331565 Mouse Phenotype double ureter 210 1.176696e-7 0.000005357328788571428 3.036727 31 0.007665678 774 0.028340199856589147 2.441489 10 17 0.002210433 Mouse Phenotype abnormal thyroid cartilage morphology 214 1.549215e-7 0.000006921516175233644 2.470294 43 0.01063304 646 0.015226203306501545 2.234901 14 26 0.003094607 Mouse Phenotype abnormal metanephros morphology 216 1.579193e-7 0.000006990122348611111 2.532453 41 0.01013848 721 0.022091572339805823 2.152127 14 27 0.003094607 Mouse Phenotype midface hypoplasia 252 5.450264e-7 0.00002067856115238095 3.355794 24 0.005934718 653 0.015443650497702908 3.22819 7 9 0.001547303 Mouse Phenotype anencephaly 279 0.000001009695 0.00003460105338709677 2.182014 48 0.01186944 476 0.0050166466569327725 2.394537 15 26 0.00331565 Mouse Phenotype increased diameter of fibula 285 0.000001129732 0.000037899535621052635 5.1353 14 0.003461919 455 0.004099931209450549 4.150531 6 6 0.00132626 Mouse Phenotype translucent skin 295 0.000001493872 0.00004841664471864407 2.435704 37 0.009149357 914 0.04943701248905908 2.174087 11 21 0.002431477 Mouse Phenotype abnormal laryngeal cartilage morphology 300 0.000001706144 0.00005437480928 2.021047 55 0.0136004 420 0.002641995682857143 2.253145 19 35 0.004199823 Mouse Phenotype small superior cervical ganglion 301 0.000001817794 0.000057740626026578076 2.351054 39 0.009643917 544 0.008273105179411764 2.075265 19 38 0.004199823 Mouse Phenotype sacral vertebral transformation 304 0.000001889301 0.00005941975941118421 4.583691 15 0.003709199 914 0.04943701248905908 2.174087 11 21 0.002431477