# 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 Sertoli cell differentiation 110 1.140481e-11 1.3643263162727274e-9 3.442237 43 0.007610619 761 0.047073166760841 2.142678 12 20 0.002282237 GO Biological Process thyroid gland development 123 9.028804e-10 9.659352181788618e-8 3.299903 37 0.006548673 539 0.010628741582189238 2.231956 15 24 0.002852796 GO Biological Process histone H3-K36 methylation 137 3.515409e-9 3.376588834379562e-7 4.826958 22 0.003893805 739 0.04558954246820027 3.060968 6 7 0.001141118 GO Biological Process anterior/posterior axis specification 172 3.914903e-8 0.0000029951284056395344 2.001782 75 0.01327434 536 0.010515047565298509 1.820576 26 51 0.004944846 GO Biological Process primitive streak formation 210 7.673062e-7 0.00004808086802761904 2.777417 31 0.005486726 753 0.04625318598273573 2.597185 8 11 0.001521491 GO Biological Process peripheral nervous system neuron development 251 0.000002865679 0.00015023693211553785 2.227337 42 0.007433628 376 0.001244920843962766 3.021725 11 13 0.00209205 GO Biological Process brain morphogenesis 258 0.000003539312 0.0001805186302635659 2.031351 51 0.009026549 648 0.023966153663580243 1.947889 18 33 0.003423355 GO Biological Process prostate glandular acinus development 352 0.0000275521 0.001029994556534091 2.429674 28 0.004955752 753 0.04625318598273573 2.597185 8 11 0.001521491 GO Biological Process negative regulation of antigen receptor-mediated signaling pathway 521 0.0002241266 0.005660809845297504 2.251539 25 0.004424779 709 0.040751362846262344 2.110213 13 22 0.002472423 GO Cellular Component ER-mitochondrion membrane contact site 92 0.00006133071 0.0011519507269565218 2.786147 20 0.003539823 35 0.0038918178925714283 3.214017 9 10 0.001711677 GO Cellular Component organelle membrane contact site 126 0.0006444927 0.008838757028571427 2.212069 22 0.003893805 56 0.025478832342857142 2.455152 11 16 0.00209205 Human Phenotype Poor speech 98 3.052498e-8 0.0000020785019544897957 2.167842 63 0.01115044 94 0.004221138900106383 1.967765 27 49 0.005135032 Human Phenotype Choanal atresia 174 7.065434e-7 0.000027096345449425287 2.117962 53 0.009380531 96 0.004230457481354167 2.123374 22 37 0.0041841 Human Phenotype Broad foot 257 0.000008728364 0.0002266318014474708 2.248935 37 0.006548673 114 0.007238507482456141 2.805888 11 14 0.00209205 Human Phenotype Vaginal atresia 584 0.001224526 0.013991886982876713 2.026821 24 0.004247788 205 0.029872423412682925 2.550807 10 14 0.001901864 Human Phenotype Joint contracture of the 5th finger 717 0.003242032 0.030173053746164576 2.566302 12 0.002123894 252 0.045529984920634925 3.57113 5 5 0.0009509319 Mouse Phenotype Single KO increased pulmonary respiratory rate 27 1.317359e-10 4.4677986529629625e-8 3.176624 43 0.007610619 524 0.030850265028625954 2.083159 14 24 0.002662609 Mouse Phenotype Single KO abnormal liver bud morphology 31 2.989392e-10 8.83027824e-8 3.440659 37 0.006548673 428 0.017401267467056072 3.124738 7 8 0.001331305 Mouse Phenotype Single KO fused first pharyngeal arch 43 2.69129e-9 5.731195937209303e-7 5.416447 20 0.003539823 383 0.011503453755091384 3.57113 6 6 0.001141118 Mouse Phenotype Single KO mydriasis 67 4.965268e-8 0.000006786113294925373 2.336056 52 0.00920354 497 0.026890313543259558 2.25545 12 19 0.002282237 Mouse Phenotype Single KO absent limb buds 72 6.859299e-8 0.000008723694575416667 2.780434 37 0.006548673 595 0.04073333703361345 2.597185 8 11 0.001521491 Mouse Phenotype Single KO hydroureter 74 7.707076e-8 0.000009536985801621623 2.125008 62 0.01097345 423 0.015615334685106383 2.380753 12 18 0.002282237 Mouse Phenotype Single KO abnormal neural fold formation 75 7.911859e-8 0.000009659852381733334 2.322265 51 0.009026549 252 0.002461206832063492 2.295726 18 28 0.003423355 Mouse Phenotype Single KO small embryonic telencephalon 85 1.662403e-7 0.000017908969730588234 2.496823 42 0.007433628 547 0.034512113605118834 2.380753 10 15 0.001901864 Mouse Phenotype Single KO abnormal monocyte differentiation 86 1.753162e-7 0.000018667098179069766 4.174636 20 0.003539823 582 0.040282555553264605 3.060968 6 7 0.001141118 Mouse Phenotype Single KO failure of somite differentiation 94 2.628629e-7 0.000025606761439361702 2.229393 51 0.009026549 178 0.00019862577309550563 2.191375 27 44 0.005135032 Mouse Phenotype Single KO absent somites 128 9.608279e-7 0.00006873672718984374 2.303073 43 0.007610619 229 0.0013406975630567684 2.182357 22 36 0.0041841 Mouse Phenotype Single KO abnormal CD5-positive Ly6C-positive T cell number 131 0.000001085803 0.0000758984585572519 3.325734 23 0.004070796 428 0.017401267467056072 3.124738 7 8 0.001331305 Mouse Phenotype Single KO abnormal ureter development 190 0.000005084073 0.0002450255603210526 2.276817 38 0.006725664 595 0.04073333703361345 2.597185 8 11 0.001521491 Mouse Phenotype Single KO pituitary gland hypoplasia 194 0.000006441511 0.00030404595993298967 2.97809 23 0.004070796 428 0.017401267467056072 3.124738 7 8 0.001331305 Mouse Phenotype Single KO abnormal anterior visceral endoderm morphology 202 0.000007639017 0.0003462894983613862 2.115037 43 0.007610619 631 0.04876494320919175 2.182357 11 18 0.00209205 Mouse Phenotype Single KO abnormal paraventricular hypothalamic nucleus morphology 208 0.000009735421 0.00042859254854326923 3.776894 16 0.002831858 513 0.030691122417153997 3.57113 5 5 0.0009509319 Mouse Phenotype Single KO abnormal lateral ganglionic eminence morphology 352 0.0001150163 0.002992057554261364 2.583213 21 0.003716814 428 0.017401267467056072 3.124738 7 8 0.001331305 Mouse Phenotype Single KO abnormal ilium morphology 366 0.0001346544 0.0033689353573770494 2.245818 27 0.004778761 451 0.019452042517960087 2.856904 8 10 0.001521491 Mouse Phenotype Single KO decreased molar number 371 0.000146061 0.003605068940700809 2.607646 20 0.003539823 428 0.017401267467056072 3.124738 7 8 0.001331305 Mouse Phenotype Single KO ectopic ureteric bud 461 0.0003905779 0.007758181844468547 2.411926 20 0.003539823 383 0.011503453755091384 3.57113 6 6 0.001141118 Mouse Phenotype increased pulmonary respiratory rate 25 1.132877e-11 4.3325747988e-9 2.90397 55 0.009734513 564 0.004720070750531914 2.040646 20 35 0.003803728 Mouse Phenotype failure of somite differentiation 32 1.195593e-10 3.5722077103125e-8 2.261853 78 0.01380531 257 0.00008802820140466927 2.01596 35 62 0.006656523 Mouse Phenotype abnormal liver bud morphology 37 2.989392e-10 7.724750516756757e-8 3.440659 37 0.006548673 691 0.011253735616063675 3.124738 7 8 0.001331305 Mouse Phenotype abnormal pituitary diverticulum morphology 50 8.730211e-10 1.66939094742e-7 2.103951 83 0.01469027 435 0.0015275754763448277 2.040646 24 42 0.004564473 Mouse Phenotype abnormal adenohypophysis development 54 1.217087e-9 2.1549201494444444e-7 2.088323 83 0.01469027 488 0.0022662802715163934 1.993189 24 43 0.004564473 Mouse Phenotype abnormal lacrimal gland development 62 3.419113e-9 5.272603127903225e-7 4.130254 26 0.00460177 691 0.011253735616063675 3.124738 7 8 0.001331305 Mouse Phenotype absent somites 66 4.31289e-9 6.247809286363637e-7 2.32617 61 0.01079646 539 0.0033063250641929497 1.894885 26 49 0.004944846 Mouse Phenotype abnormal peritoneum morphology 82 1.877728e-8 0.0000021893850497560976 4.211025 23 0.004070796 939 0.028190919054313097 2.777545 7 9 0.001331305 Mouse Phenotype abnormal neural fold formation 135 2.266039e-7 0.00001604859176222222 2.220805 52 0.00920354 649 0.008531729622804313 1.995631 19 34 0.003613541 Mouse Phenotype abnormal Reichert's cartilage morphology 142 2.524493e-7 0.000016997660262676056 3.628162 23 0.004070796 812 0.020245299753694584 3.57113 5 5 0.0009509319 Mouse Phenotype abnormal monocyte differentiation 144 2.816622e-7 0.0000187011964875 3.882424 21 0.003716814 939 0.028190919054313097 2.777545 7 9 0.001331305 Mouse Phenotype decreased brown adipose tissue amount 164 4.852741e-7 0.000028290888232317073 2.111437 55 0.009734513 676 0.010249573036686391 1.870592 22 42 0.0041841 Mouse Phenotype small embryonic telencephalon 182 7.765253e-7 0.000040793177985164835 2.184847 49 0.008672566 639 0.007799552581220657 2.272537 14 22 0.002662609 Mouse Phenotype abnormal CD5-positive Ly6C-positive T cell number 195 0.000001085803 0.00005323775632307692 3.325734 23 0.004070796 691 0.011253735616063675 3.124738 7 8 0.001331305 Mouse Phenotype abnormal optic stalk morphology 208 0.000001360956 0.00006255817459615385 2.086562 52 0.00920354 641 0.007922155105460219 2.093421 17 29 0.003233169 Mouse Phenotype decreased trophoblast giant cell number 216 0.000001753239 0.00007760517629166666 2.067725 52 0.00920354 1124 0.04935174693683274 1.666527 21 45 0.003993914 Mouse Phenotype abnormal pulmonary valve cusp morphology 225 0.000002150146 0.00009136687069333334 2.279914 41 0.007256637 886 0.025539168382618507 1.983961 15 27 0.002852796 Mouse Phenotype absent limb buds 228 0.00000230601 0.00009670070881578946 2.080809 50 0.008849558 818 0.020426620657701712 2.310731 11 17 0.00209205 Mouse Phenotype abnormal vertebral transverse process morphology 233 0.000002683716 0.0001101245007553648 3.056046 24 0.004247788 926 0.027327888288336936 2.597185 8 11 0.001521491 Mouse Phenotype decreased DN4 thymocyte number 263 0.000004386025 0.00015944785180608363 2.422579 34 0.006017699 571 0.004868447804553415 2.443405 13 19 0.002472423