# 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 paraxial mesoderm development 72 2.023434e-10 3.6981066675e-8 3.641276 35 0.009490239 220 0.0006637100531818182 3.464285 12 17 0.003136435 GO Biological Process mesoderm morphogenesis 74 4.603647e-10 8.186404172027027e-8 2.118677 84 0.02277657 142 0.00009829244786619719 2.276052 32 69 0.008363826 GO Biological Process mesoderm formation 75 4.937984e-10 8.663857527466667e-8 2.149249 81 0.02196312 153 0.00014252487098039216 2.270744 31 67 0.008102457 GO Biological Process paraxial mesoderm morphogenesis 82 2.960387e-9 4.750699089390244e-7 3.682388 30 0.00813449 195 0.00033128450572307696 4.416963 9 10 0.002352326 GO Biological Process mesodermal cell differentiation 173 0.000004659187 0.00035439446088439305 2.313231 37 0.01003254 329 0.006574896349848025 2.642627 14 26 0.003659174 GO Biological Process regulation of cell fate commitment 207 0.0000147474 0.0009374929304347827 2.165727 38 0.01030369 333 0.006890902005105105 2.538484 15 29 0.003920544 GO Biological Process paraxial mesoderm formation 256 0.0000518303 0.002664198897265625 3.018105 18 0.004880694 393 0.01380500644961832 4.206631 6 7 0.001568217 GO Biological Process regulation of cell fate specification 261 0.00005804866 0.002926675543831418 2.461416 25 0.006778742 238 0.0010480684593697478 3.775182 10 13 0.002613696 GO Biological Process ceramide biosynthetic process 289 0.00008674023 0.003949531787439447 2.078869 34 0.009219089 352 0.009078678214772727 2.220167 19 42 0.004966022 GO Biological Process regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum 317 0.0001386494 0.005755480929337539 2.003002 35 0.009490239 437 0.021711238862471397 2.453868 13 26 0.003397804 GO Biological Process protein localization to cell surface 377 0.000342402 0.01195137378779841 2.021425 30 0.00813449 357 0.009621801824089636 2.658357 13 24 0.003397804 GO Biological Process daunorubicin metabolic process 505 0.0009179484 0.02391937226851485 4.111922 8 0.002169197 490 0.03659695143673469 3.680802 6 8 0.001568217 GO Biological Process doxorubicin metabolic process 505 0.0009179484 0.02391937226851485 4.111922 8 0.002169197 490 0.03659695143673469 3.680802 6 8 0.001568217 GO Biological Process regulation of epithelial cell proliferation involved in lung morphogenesis 552 0.001250712 0.029815433347826086 2.187159 20 0.005422993 490 0.03659695143673469 3.680802 6 8 0.001568217 GO Cellular Component SMAD protein complex 20 1.374421e-13 1.1874997439999998e-11 6.344801 27 0.007321041 18 0.033926304 3.817128 7 9 0.001829587 GO Molecular Function I-SMAD binding 18 1.846319e-7 0.000043306437877777774 3.358858 26 0.007049892 27 0.0034510096340740737 4.015421 9 11 0.002352326 GO Molecular Function ATP-dependent microtubule motor activity 35 0.00000415182 0.0005008281154285715 2.167648 43 0.01165944 38 0.03589807719473684 2.133798 20 46 0.005227392 GO Molecular Function dynein light chain binding 75 0.0000791851 0.004457593229333334 2.32057 27 0.007321041 31 0.006884728236129033 2.862846 14 24 0.003659174 Human Phenotype Abnormality of skull ossification 50 8.45859e-8 0.000011288834214 3.729754 24 0.006507592 289 0.042099102671280274 2.583019 10 19 0.002613696 Human Phenotype Hand polydactyly 55 1.145249e-7 0.000013894993776363637 2.030637 67 0.01816703 132 0.0026953819199242424 2.050994 28 67 0.007318348 Human Phenotype Abnormal larynx morphology 62 1.799603e-7 0.00001936895293387097 2.215657 53 0.01437093 236 0.025556331743644068 1.928039 22 56 0.005750131 Human Phenotype Abnormal lung lobation 65 2.813371e-7 0.000028882499512307696 3.602461 23 0.006236443 300 0.048868492116666676 3.123105 7 11 0.001829587 Human Phenotype Abnormality of the choanae 124 0.000003797827 0.0002043782223467742 2.11229 46 0.01247289 151 0.004606036040397351 2.282668 20 43 0.005227392 Human Phenotype Abnormality of the pubic bone 137 0.000006504463 0.0003168195737153285 2.535909 30 0.00813449 122 0.0021249473851639345 3.374069 11 16 0.002875065 Human Phenotype Choanal stenosis 159 0.00001161474 0.0004874538366037736 2.722953 25 0.006778742 180 0.010713935245 3.067335 10 16 0.002613696 Human Phenotype Abnormal localization of kidney 214 0.00005522337 0.0017219885421028039 2.011335 39 0.01057484 203 0.014977019262068965 2.088399 20 47 0.005227392 Human Phenotype Hamartoma 217 0.00005940534 0.0018267826443317972 2.407969 26 0.007049892 179 0.010347802460335195 2.544752 14 27 0.003659174 Human Phenotype Hypoplastic fingernail 229 0.000079688 0.0023220874410480354 2.730165 20 0.005422993 281 0.04146970283629894 4.08978 5 6 0.001306848 Human Phenotype Choanal atresia 234 0.00008472105 0.002415998148076923 2.081512 34 0.009219089 261 0.034471823153256705 2.122264 16 37 0.004181913 Human Phenotype Abnormality of the ischium 244 0.0001004052 0.0027459176213114754 2.766216 19 0.005151844 300 0.048868492116666676 3.123105 7 11 0.001829587 Human Phenotype Hypoplastic facial bones 384 0.0008195994 0.0142426739484375 3.036607 12 0.003253796 140 0.0034005498372142854 4.907737 6 6 0.001568217 Human Phenotype Hypoplastic iliac wing 432 0.001211676 0.018716467472222224 2.063238 23 0.006236443 248 0.030516086423387098 2.570719 11 21 0.002875065 Human Phenotype Wide nasal base 454 0.001527693 0.022454395129955947 2.570543 14 0.003796095 274 0.04192789588686131 4.907737 4 4 0.001045478 Human Phenotype Deep philtrum 467 0.001687664 0.024115164608137046 2.23527 18 0.004880694 223 0.019790181932286998 2.699255 11 20 0.002875065 Mouse Phenotype Single KO absent corpus callosum 70 0.000001383151 0.0001809359101 2.155888 48 0.01301518 328 0.004972309627134147 2.453868 16 32 0.004181913 Mouse Phenotype Single KO abnormal extraembryonic endoderm formation 77 0.000001958469 0.00023290520302597404 2.879481 27 0.007321041 414 0.012688737672705314 2.886904 10 17 0.002613696 Mouse Phenotype Single KO premature suture closure 104 0.000006653589 0.0005858357160865384 2.580813 29 0.007863341 232 0.0008710777811206896 4.015421 9 11 0.002352326 Mouse Phenotype Single KO abnormal metacarpal bone morphology 153 0.0000243745 0.001458805859477124 2.009337 43 0.01165944 182 0.00027497726364835167 2.742559 19 34 0.004966022 Mouse Phenotype Single KO decreased paraxial mesoderm size 184 0.00004500238 0.0022396021394565217 3.91142 13 0.003524946 618 0.0501037553236246 3.271824 6 9 0.001568217 Mouse Phenotype Single KO abnormal paraxial mesoderm morphology 185 0.00004670692 0.002311866305081081 2.240549 31 0.00840564 558 0.034594768560931896 2.103316 15 35 0.003920544 Mouse Phenotype Single KO abnormal fourth pharyngeal arch artery morphology 227 0.0001005862 0.004057567548017621 2.286117 27 0.007321041 518 0.029843370104247105 2.760602 9 16 0.002352326 Mouse Phenotype Single KO abnormal impulse conducting system morphology 232 0.0001131227 0.0044649334650862064 2.584955 21 0.005694143 286 0.002857837586083916 3.926189 8 10 0.002090957 Mouse Phenotype Single KO absent presphenoid bone 292 0.0002379709 0.0074626696277397256 2.580594 19 0.005151844 376 0.008606581497340426 3.817128 7 9 0.001829587 Mouse Phenotype Single KO premature bone ossification 316 0.0003152123 0.009134174149050633 2.005244 31 0.00840564 478 0.021726246855648536 2.570719 11 21 0.002875065 Mouse Phenotype Single KO increased CD4-negative NK T cell number 332 0.000378899 0.010450536575301204 2.980651 14 0.003796095 375 0.008558771969066667 4.907737 5 5 0.001306848 Mouse Phenotype Single KO decreased inferior colliculus size 343 0.000429771 0.011473507425655977 2.456917 19 0.005151844 461 0.01926200375075922 3.435416 7 10 0.001829587 Mouse Phenotype Single KO fused phalanges 388 0.0007208145 0.01701159375386598 2.416723 18 0.004880694 258 0.0019219577610852712 3.505526 10 14 0.002613696 Mouse Phenotype Single KO decreased circulating adrenocorticotropin level 449 0.001222442 0.02493073807126949 2.445883 16 0.004338395 563 0.03573336272646537 3.123105 7 11 0.001829587 Mouse Phenotype Single KO absent ureteric bud 468 0.001397785 0.02734939582264957 2.275016 18 0.004880694 495 0.02520960947878788 3.680802 6 8 0.001568217 Mouse Phenotype Single KO abnormal bile salt level 481 0.001531567 0.029157087357588356 2.062552 22 0.005965293 588 0.04275437560884354 2.265109 12 26 0.003136435 Mouse Phenotype Single KO arrest of tooth development 510 0.001826815 0.0328002842254902 2.428233 15 0.004067245 278 0.00234998166147482 4.907737 6 6 0.001568217 Mouse Phenotype Single KO parturition failure 521 0.001963324 0.03450702085988483 2.500024 14 0.003796095 286 0.002857837586083916 3.926189 8 10 0.002090957 Mouse Phenotype Single KO decreased cervical vertebrae number 558 0.002381832 0.03908680219354839 2.993139 10 0.002711497 582 0.04257608511340206 2.804421 8 14 0.002090957 Mouse Phenotype Single KO premature hair loss 562 0.002468779 0.04022528345729537 2.105136 19 0.005151844 307 0.003956799354723127 3.271824 10 15 0.002613696 Mouse Phenotype enlarged myocardial fiber 50 1.131566e-8 0.0000021637805051999996 2.242708 62 0.01681128 318 0.0003755569819811321 2.15643 29 66 0.007579718 Mouse Phenotype abnormal neural fold morphology 52 1.292936e-8 0.000002377261749230769 2.217781 63 0.01708243 672 0.014788448294642856 1.881299 23 60 0.0060115 Mouse Phenotype fused phalanges 87 9.156571e-8 0.000010062755785172413 2.891455 34 0.009219089 446 0.003151779362556054 2.773938 13 23 0.003397804 Mouse Phenotype abnormal meninges morphology 142 0.000001807718 0.0001217154351971831 2.659543 31 0.00840564 988 0.042413757255060726 2.249379 11 24 0.002875065 Mouse Phenotype abnormal extraembryonic endoderm formation 163 0.000003861492 0.00022650138044171778 2.772788 27 0.007321041 895 0.03188967393854748 2.453868 10 20 0.002613696 Mouse Phenotype abnormal neural fold formation 171 0.000004221838 0.00023605259133333334 2.355413 36 0.009761388 738 0.019181697951219514 2.165178 15 34 0.003920544 Mouse Phenotype increased mean systemic arterial blood pressure 184 0.000005577604 0.0002898232165434782 2.026734 49 0.01328633 576 0.007562774238541667 2.088399 20 47 0.005227392 Mouse Phenotype premature suture closure 210 0.00001003327 0.00045680044985714285 2.52342 29 0.007863341 481 0.003815934241372142 3.397664 9 13 0.002352326 Mouse Phenotype abnormal paraxial mesoderm morphology 211 0.00001006364 0.000456011668436019 2.109186 42 0.01138829 554 0.007081128568592058 2.061249 21 50 0.005488761 Mouse Phenotype abnormal cecum morphology 229 0.00001554066 0.0006488395207860262 2.186341 37 0.01003254 918 0.034322531895424835 2.08207 14 33 0.003659174 Mouse Phenotype abnormal brain meninges morphology 237 0.00001877318 0.0007573433501265823 2.855225 22 0.005965293 864 0.029945052 2.804421 8 14 0.002090957 Mouse Phenotype abnormal cerebellum fissure morphology 267 0.0000364404 0.0013048938741573033 2.594177 24 0.006507592 674 0.014973533167655784 2.72652 10 18 0.002613696 Mouse Phenotype decreased paraxial mesoderm size 280 0.00004500238 0.0015366705542142858 3.91142 13 0.003524946 923 0.03502733983748646 3.271824 6 9 0.001568217 Mouse Phenotype skin fibrosis 282 0.00004651691 0.0015771211932978724 2.49673 25 0.006778742 498 0.004445759406626506 2.804421 12 21 0.003136435 Mouse Phenotype abnormal mammary gland bud morphology 289 0.00005117237 0.001692937818581315 2.915756 19 0.005151844 765 0.02182518840392157 4.08978 5 6 0.001306848 Mouse Phenotype impaired lung lobe morphogenesis 335 0.00008898906 0.0025397743362985076 3.444143 14 0.003796095 537 0.006240487845810056 4.907737 5 5 0.001306848 Mouse Phenotype iris coloboma 351 0.0001083465 0.0029512845769230772 2.412673 24 0.006507592 728 0.018533565103021978 3.020146 8 13 0.002090957 Mouse Phenotype abnormal left lung morphology 377 0.0001419731 0.0036005432602122015 2.074775 32 0.00867679 524 0.005169362656488549 2.453868 15 30 0.003920544 Mouse Phenotype absent presphenoid bone 393 0.0001711894 0.004164737540458015 2.338053 24 0.006507592 728 0.018533565103021978 3.020146 8 13 0.002090957 Mouse Phenotype uveal coloboma 413 0.0002227174 0.005155934773365617 2.295514 24 0.006507592 1003 0.045457998511465605 2.617459 8 15 0.002090957