# 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 extrinsic apoptotic signaling pathway in absence of ligand 253 6.947474e-19 3.6135102911462453e-17 2.041428 190 0.01068376 903 0.0314807726234773 1.415178 34 46 0.003466911 GO Biological Process positive regulation of cell cycle G2/M phase transition 306 2.240183e-16 9.633518985947713e-15 2.373812 116 0.006522717 586 0.004018098404436859 1.684894 22 25 0.002243296 GO Biological Process positive regulation of G2/M transition of mitotic cell cycle 344 3.159052e-15 1.2084292229069768e-13 2.341029 110 0.006185335 825 0.02294872178909091 1.641131 18 21 0.001835424 GO Biological Process regulation of Rac protein signal transduction 373 1.965921e-14 6.93553738310992e-13 2.705983 79 0.004442195 843 0.024142581593119813 1.777892 13 14 0.001325584 GO Biological Process placenta blood vessel development 422 1.800174e-13 5.6133861767772504e-12 2.127636 118 0.006635178 991 0.046872902418768916 1.482312 24 31 0.002447232 GO Biological Process regulation of DNA-templated transcription, elongation 532 5.714071e-12 1.4133733137030073e-10 2.205073 95 0.00534188 737 0.014797898992808683 1.469385 33 43 0.003364943 GO Biological Process positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay 574 3.309092e-11 7.586122234843206e-10 2.319138 79 0.004442195 994 0.04694201862173038 1.675321 14 16 0.001427552 GO Biological Process response to laminar fluid shear stress 689 4.332614e-10 8.274726796226416e-9 2.202238 78 0.004385965 843 0.024142581593119813 1.777892 13 14 0.001325584 GO Biological Process thyroid gland development 753 1.834004e-9 3.2050011468791496e-8 2.153437 76 0.004273504 849 0.024171936043580682 1.595544 20 24 0.00203936 GO Biological Process intrinsic apoptotic signaling pathway in response to oxidative stress 843 8.58962e-9 1.3408162465005933e-7 2.219379 65 0.003654971 897 0.030499378607580827 1.6894 15 17 0.00152952 GO Biological Process regulation of cell communication by electrical coupling involved in cardiac conduction 975 6.01875e-8 8.123151923076922e-7 2.11564 64 0.00359874 958 0.039653836081419626 1.914653 9 9 0.0009177118 GO Biological Process mismatch repair 1110 2.871737e-7 0.000003404431277747748 2.135459 56 0.003148898 1003 0.04954928956530409 1.50437 22 28 0.002243296 GO Biological Process dendrite extension 1131 3.721727e-7 0.000004330168487444739 2.004781 64 0.00359874 836 0.023722686318181817 1.914653 10 10 0.00101968 GO Biological Process peptidyl-lysine monomethylation 1587 0.00001644341 0.00013634456974795213 2.159188 38 0.002136752 958 0.039653836081419626 1.914653 9 9 0.0009177118 Human Phenotype Bronchomalacia 189 7.175432e-10 2.533421044232804e-8 2.189237 77 0.004329735 92 0.015549330307608696 1.914653 13 13 0.001325584 Human Phenotype Acanthosis nigricans 359 2.14443e-7 0.0000039860115292479115 2.093026 60 0.003373819 165 0.04898422822424242 1.701914 16 18 0.001631488 Mouse Phenotype Single KO absent corpus callosum 63 4.769055e-31 6.931783592857143e-29 2.300612 247 0.01388889 673 0.008731843075185736 1.555655 26 32 0.002651168 Mouse Phenotype Single KO interrupted aortic arch 66 1.092867e-30 1.5162701695454544e-28 2.300508 244 0.0137202 435 0.0007895805337471264 1.612339 32 38 0.003262975 Mouse Phenotype Single KO enlarged liver sinusoidal spaces 86 1.579597e-27 1.681903456860465e-25 2.677524 163 0.009165542 942 0.028836841400212317 1.448926 28 37 0.002855103 Mouse Phenotype Single KO interrupted aorta 87 2.316048e-27 2.437707073103448e-25 2.15185 250 0.01405758 385 0.0003332465387272728 1.627455 34 40 0.003466911 Mouse Phenotype Single KO abnormal fourth pharyngeal arch morphology 133 1.237145e-21 8.517696815789473e-20 2.362401 159 0.008940621 583 0.0036421394205831906 1.732305 19 21 0.001937392 Mouse Phenotype Single KO abnormal fourth pharyngeal arch artery morphology 136 1.770994e-21 1.1924258866176472e-19 2.493357 142 0.007984705 427 0.00065364831941452 1.914653 16 16 0.001631488 Mouse Phenotype Single KO abnormal facial nerve morphology 152 1.148473e-20 6.918794250657894e-19 2.292103 161 0.009053081 242 0.000012520184473553717 1.846272 27 28 0.002753136 Mouse Phenotype Single KO abnormal metanephros morphology 173 1.291126e-19 6.8340120127167624e-18 2.36176 143 0.008040936 878 0.024887318033029612 1.627455 17 20 0.001733456 Mouse Phenotype Single KO abnormal right subclavian artery morphology 205 5.961287e-18 2.6628051248292685e-16 2.040101 180 0.01012146 671 0.008688898526974666 1.531722 28 35 0.002855103 Mouse Phenotype Single KO abnormal canal of Schlemm morphology 223 3.943199e-17 1.619187140941704e-15 3.386067 68 0.003823662 1050 0.048222654446666666 1.914653 8 8 0.0008157439 Mouse Phenotype Single KO abnormal pulmonary valve cusp morphology 281 3.298997e-15 1.0750503746975088e-13 2.262225 118 0.006635178 622 0.005951989640353698 1.723188 18 20 0.001835424 Mouse Phenotype Single KO iris synechia 290 6.449319e-15 2.036428071827586e-13 2.166602 127 0.007141251 447 0.0008949961663982103 1.81892 19 20 0.001937392 Mouse Phenotype Single KO increased pulmonary respiratory rate 296 8.075466e-15 2.498210883851351e-13 2.393958 102 0.005735493 815 0.017522329598773007 1.595544 20 24 0.00203936 Mouse Phenotype Single KO abnormal third pharyngeal arch artery morphology 361 1.885459e-13 4.7825894911357345e-12 2.585876 79 0.004442195 629 0.0059789532368839425 1.914653 12 12 0.001223616 Mouse Phenotype Single KO retroesophageal right subclavian artery 367 2.356849e-13 5.880563022615804e-12 2.240658 104 0.005847953 683 0.009406262120497805 1.71311 17 19 0.001733456 Mouse Phenotype Single KO abnormal forelimb bud morphology 420 3.324371e-12 7.247920296904762e-11 2.249655 93 0.00522942 920 0.02873381001956522 1.914653 9 9 0.0009177118 Mouse Phenotype Single KO abnormal third pharyngeal arch morphology 447 7.857704e-12 1.609686700850112e-10 2.212894 93 0.00522942 857 0.02221431569778296 1.6894 15 17 0.00152952 Mouse Phenotype Single KO thoracic vertebral transformation 463 1.309114e-11 2.5891051615550753e-10 2.004724 115 0.006466487 746 0.0125797172077748 1.43599 36 48 0.003670847 Mouse Phenotype Single KO abnormal iris stroma morphology 503 6.383882e-11 1.1621711227435386e-9 2.209646 85 0.004779577 795 0.01735934531572327 1.914653 10 10 0.00101968 Mouse Phenotype Single KO thick aortic valve cusps 511 8.554802e-11 1.5330004288454013e-9 2.427247 69 0.003879892 795 0.01735934531572327 1.914653 10 10 0.00101968 Mouse Phenotype enlarged liver sinusoidal spaces 100 1.508161e-31 1.4419527321e-29 2.648214 192 0.01079622 1163 0.015013630901117798 1.447664 31 41 0.003161007 Mouse Phenotype interrupted aortic arch 108 7.762465e-31 6.871937765277778e-29 2.08624 305 0.01715025 505 0.00012402184625346534 1.595544 40 48 0.004078719 Mouse Phenotype abnormal third pharyngeal arch artery morphology 124 1.202059e-28 9.268456531451612e-27 2.863886 152 0.008547009 1099 0.01251685405277525 1.641131 18 21 0.001835424 Mouse Phenotype abnormal third pharyngeal arch morphology 139 3.154424e-26 2.169744450647482e-24 2.524686 172 0.009671615 1045 0.009189667228708133 1.572751 23 28 0.002345264 Mouse Phenotype abnormal liver sinusoid morphology 149 1.404931e-25 9.015131067785235e-24 2.03439 266 0.01495726 1319 0.025087484106141016 1.300982 53 78 0.005404303 Mouse Phenotype abnormal fourth pharyngeal arch artery morphology 160 2.101255e-24 1.2556311909375e-22 2.268136 197 0.01107737 515 0.00014164632639029128 1.772827 25 27 0.0025492 Mouse Phenotype abnormal fourth pharyngeal arch morphology 168 3.559491e-23 2.0257317530357145e-21 2.153263 209 0.01175214 667 0.0006596014925037481 1.667601 27 31 0.002753136 Mouse Phenotype increased thyroid tumor incidence 254 1.941754e-19 7.309098422834645e-18 2.749718 107 0.006016644 1355 0.027950055856826566 1.531722 20 25 0.00203936 Mouse Phenotype abnormal paraxial mesoderm morphology 256 2.007535e-19 7.497672708984375e-18 2.041188 196 0.01102114 1316 0.024953280054711247 1.37855 36 50 0.003670847 Mouse Phenotype abnormal metanephros morphology 281 5.099663e-18 1.7351557986832742e-16 2.177063 155 0.0087157 1452 0.038006970167355374 1.489174 21 27 0.002141328 Mouse Phenotype ectopic ureteric bud 331 7.366288e-16 2.1277667543202418e-14 2.452214 105 0.005904184 893 0.004397182058230683 1.914653 12 12 0.001223616 Mouse Phenotype abnormal pulmonary valve cusp morphology 350 2.804867e-15 7.662095253428572e-14 2.208328 125 0.00702879 1141 0.013394458230499562 1.560087 22 27 0.002243296 Mouse Phenotype thoracic vertebral transformation 365 5.341793e-15 1.3992570650136984e-13 2.077456 141 0.007928475 713 0.001205369081823282 1.477978 44 57 0.004486591 Mouse Phenotype increased pulmonary respiratory rate 385 9.513381e-15 2.3625307984675326e-13 2.147131 128 0.007197481 953 0.0063876990837355725 1.531722 28 35 0.002855103 Mouse Phenotype abnormal rib development 407 2.641133e-14 6.204391305405406e-13 2.217635 115 0.006466487 712 0.0012064075171348313 1.624554 28 33 0.002855103 Mouse Phenotype abnormal aortic valve cusp morphology 422 4.764019e-14 1.0793551104028437e-12 2.00521 143 0.008040936 645 0.0005560016482790697 1.612339 32 38 0.003262975 Mouse Phenotype ruffled hair 487 3.992925e-13 7.839087458932238e-12 2.240343 102 0.005735493 953 0.0063876990837355725 1.531722 28 35 0.002855103 Mouse Phenotype tachypnea 495 5.05007e-13 9.754286721212121e-12 2.863668 64 0.00359874 1506 0.040746163219123506 1.595544 15 18 0.00152952 Mouse Phenotype absent second pharyngeal arch 577 1.050027e-11 1.739914756845754e-10 2.222318 91 0.005116959 829 0.0030407405352231606 1.802026 16 17 0.001631488 Mouse Phenotype abnormal forelimb bud morphology 621 3.671514e-11 5.652712617391305e-10 2.02564 107 0.006016644 802 0.00255568510361596 1.914653 13 13 0.001325584