# 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 triglyceride biosynthetic process 83 4.301578e-30 6.819815048433735e-28 7.7411 55 0.008025682 598 0.030747213775919727 2.319293 11 16 0.001976285 GO Biological Process cholesterol metabolic process 101 1.075244e-25 1.400904534257426e-23 2.670629 151 0.02203415 644 0.040195881891304346 1.445793 48 112 0.008623787 GO Biological Process secondary alcohol metabolic process 102 1.832125e-25 2.3636208700980392e-23 2.625984 154 0.02247191 549 0.022039371523679418 1.470508 51 117 0.009162774 GO Biological Process sterol metabolic process 111 1.605281e-23 1.9030533945045042e-21 2.439293 162 0.02363928 529 0.018779014873156898 1.453208 56 130 0.01006109 GO Biological Process mammary gland epithelium development 158 2.227238e-18 1.8549509393670883e-16 2.273351 143 0.02086677 242 0.0003124570293099174 1.999122 32 54 0.005749192 GO Biological Process dorsal spinal cord development 201 1.75038e-16 1.1459328567164178e-14 3.465276 63 0.009193054 658 0.04298925309118541 2.088368 13 21 0.002335609 GO Biological Process mesoderm morphogenesis 227 1.333858e-15 7.732263181497796e-14 2.049616 151 0.02203415 335 0.0028320002403880596 1.760096 36 69 0.00646784 GO Biological Process mesoderm formation 248 9.822268e-15 5.211742927903226e-13 2.041963 143 0.02086677 344 0.003345867397063953 1.762285 35 67 0.006288178 GO Biological Process lipid homeostasis 331 3.700496e-12 1.4711428055589126e-10 2.042505 115 0.01678097 657 0.04264295124961948 1.459695 45 104 0.008084801 GO Biological Process mammary gland epithelial cell differentiation 371 1.031422e-11 3.65835096981132e-10 2.848315 57 0.008317525 493 0.015420129921095335 2.381307 12 17 0.002155947 GO Biological Process positive regulation of dephosphorylation 464 2.977029e-10 8.442828579956896e-9 2.073017 91 0.01327886 672 0.0466312271577381 1.686759 24 48 0.004311894 GO Biological Process notochord development 486 6.09689e-10 1.6508019652263373e-8 2.500012 59 0.008609368 586 0.028413357421501712 2.249012 12 18 0.002155947 GO Biological Process Peyer's patch development 579 6.389646e-9 1.4521822403108808e-7 4.888033 21 0.003064351 509 0.017505852024557955 3.373518 6 6 0.001077973 GO Biological Process mammary gland duct morphogenesis 641 2.376228e-8 4.878125468330733e-7 2.051121 73 0.01065227 570 0.025163609410526314 1.977579 17 29 0.003054258 GO Biological Process regulation of macrophage chemotaxis 759 2.111003e-7 0.0000036599062552042165 2.790147 34 0.004961331 554 0.023324132727797837 2.146784 14 22 0.002515271 GO Biological Process platelet-derived growth factor receptor signaling pathway 793 3.617481e-7 0.000006002828811979823 2.016222 63 0.009193054 313 0.0022597719471565496 2.146784 21 33 0.003772907 GO Biological Process unsaturated fatty acid biosynthetic process 844 7.793082e-7 0.000012150375122985782 2.165847 50 0.007296075 504 0.016145437660912698 1.751634 27 52 0.00485088 GO Biological Process definitive hemopoiesis 944 0.000002148493 0.00002994917307944915 2.469166 35 0.005107252 493 0.015420129921095335 2.381307 12 17 0.002155947 GO Biological Process membrane raft organization 1041 0.00000594797 0.00007518668321805956 2.550744 30 0.004377645 554 0.023324132727797837 2.146784 14 22 0.002515271 GO Biological Process amino acid import 1045 0.000006206619 0.00007815588461339714 3.075766 22 0.003210273 498 0.01577007853855422 2.473913 11 15 0.001976285 GO Cellular Component cleavage furrow 52 9.01789e-12 2.9967142153846157e-10 2.497779 72 0.01050635 67 0.041147368119402984 1.686759 26 52 0.004671218 GO Molecular Function steroid hormone receptor binding 31 4.42509e-17 6.026687090322581e-15 2.138111 151 0.02203415 78 0.03078799316923077 1.571753 41 88 0.007366152 GO Molecular Function bHLH transcription factor binding 36 5.967168e-16 6.998162026666667e-14 2.762408 85 0.01240333 57 0.011340603094736841 2.16869 18 28 0.00323392 GO Molecular Function RNA polymerase II activating transcription factor binding 47 1.657169e-13 1.4886313868085108e-11 2.386269 92 0.01342478 75 0.024732588586666666 1.90301 22 39 0.003952569 Human Phenotype Vestibular dysfunction 47 1.929445e-16 2.7394013797872342e-14 2.760576 88 0.01284109 34 0.05210875044705882 1.953089 22 38 0.003952569 Human Phenotype Myelofibrosis 112 3.36657e-11 2.0058144294642854e-9 6.597069 21 0.003064351 20 0.0198193338305 3.373518 8 8 0.001437298 Mouse Phenotype Single KO decreased body temperature 76 5.876494e-23 7.080402047105263e-21 2.795481 124 0.01809427 652 0.04094062397699387 1.560881 31 67 0.005569529 Mouse Phenotype Single KO abnormal body temperature 87 7.702861e-22 8.10748254908046e-20 2.357282 160 0.02334744 442 0.013768162728959277 1.52139 46 102 0.008264463 Mouse Phenotype Single KO small basisphenoid bone 99 3.881019e-21 3.5897465639393936e-19 4.11494 67 0.00977674 705 0.04768016129503546 2.335512 9 13 0.00161696 Mouse Phenotype Single KO increased neutrophil cell number 100 4.343333e-21 3.9771900281e-19 2.113245 195 0.02845469 452 0.014598500654646018 1.414701 65 155 0.01167805 Mouse Phenotype Single KO abnormal ilium morphology 109 2.340634e-20 1.9663472970642202e-18 4.251774 62 0.009047133 318 0.0037154671477987416 3.036166 9 10 0.00161696 Mouse Phenotype Single KO abnormal white fat cell morphology 124 6.556462e-19 4.8417356882258064e-17 2.374041 135 0.0196994 562 0.026305502905693952 1.54099 37 81 0.006647503 Mouse Phenotype Single KO abnormal liver sinusoid morphology 127 1.115268e-18 8.041345729133858e-17 2.732664 103 0.01502991 483 0.018173846711801243 1.635645 32 66 0.005749192 Mouse Phenotype Single KO abnormal basicranium morphology 136 6.256309e-18 4.2124280524264706e-16 2.073988 171 0.02495258 127 0.00003228117931023622 1.975918 41 70 0.007366152 Mouse Phenotype Single KO abnormal occipital bone morphology 149 2.85965e-17 1.7574372516778522e-15 2.090854 161 0.02349336 313 0.0036102920651757187 1.686759 39 78 0.007006827 Mouse Phenotype Single KO abnormal Mullerian duct morphology 168 8.373821e-17 4.5642308867261904e-15 3.024452 78 0.01138188 194 0.0005104810375257732 2.216883 23 35 0.004132231 Mouse Phenotype Single KO thin interventricular septum 169 8.492933e-17 4.601762572840237e-15 4.269076 50 0.007296075 626 0.03671480133865815 2.130643 12 19 0.002155947 Mouse Phenotype Single KO iris synechia 170 9.225708e-17 4.969400479764706e-15 3.187548 72 0.01050635 360 0.005725587215555555 2.361462 14 20 0.002515271 Mouse Phenotype Single KO ruffled hair 173 9.92257e-17 5.2520793924855485e-15 4.177148 51 0.007441996 551 0.02566213519419238 2.024111 15 25 0.002694934 Mouse Phenotype Single KO anterior iris synechia 183 5.412378e-16 2.70825930852459e-14 3.379625 63 0.009193054 529 0.024186977833648392 2.319293 11 16 0.001976285 Mouse Phenotype Single KO abnormal adipose tissue physiology 217 8.200489e-15 3.4604551969124426e-13 2.046901 143 0.02086677 607 0.03448684599505766 1.475914 42 96 0.007545814 Mouse Phenotype Single KO lordosis 223 1.564615e-14 6.424744195067265e-13 3.09837 64 0.009338976 653 0.04113133687595712 1.849994 17 31 0.003054258 Mouse Phenotype Single KO abnormal susceptibility to hearing loss 224 1.777197e-14 7.265086129017858e-13 2.561046 87 0.01269517 713 0.04769368867601684 1.78598 18 34 0.00323392 Mouse Phenotype Single KO abnormal parietal bone morphology 235 3.601171e-14 1.4032307594468084e-12 2.072755 132 0.01926164 278 0.0020507572525539568 1.874177 30 54 0.005389867 Mouse Phenotype Single KO glomerulonephritis 237 4.127258e-14 1.5946540719831225e-12 2.260605 108 0.01575952 522 0.023425097082375477 1.544502 38 83 0.006827165 Mouse Phenotype Single KO abnormal thymus physiology 250 1.024915e-13 3.754058662e-12 2.102584 123 0.01794834 503 0.020202180681908547 1.577229 36 77 0.00646784 Mouse Phenotype extramedullary hematopoiesis 30 3.021408e-34 9.629227296e-32 2.385744 251 0.0366263 1070 0.04876448655981309 1.310853 68 175 0.01221703 Mouse Phenotype abnormal body temperature 34 2.268101e-33 6.378033429705882e-31 2.509566 222 0.03239457 489 0.0033230184226993864 1.50786 59 132 0.01060007 Mouse Phenotype abnormal liver sinusoid morphology 52 8.774839e-28 1.6133891476730768e-25 2.877858 145 0.02115862 466 0.0025319251442060087 1.686759 39 78 0.007006827 Mouse Phenotype abnormal thymus involution 78 1.756127e-23 2.152606441923077e-21 4.848511 63 0.009193054 821 0.02127714955176614 2.053446 14 23 0.002515271 Mouse Phenotype enlarged liver sinusoidal spaces 86 2.081433e-22 2.3140210363953487e-20 3.328768 93 0.0135707 234 0.00007084848092307691 2.221585 27 41 0.00485088 Mouse Phenotype decreased fat cell size 96 8.351567e-22 8.3176387590625e-20 2.524875 140 0.02042901 783 0.018066065088122606 1.557008 36 78 0.00646784 Mouse Phenotype abnormal pterygoid bone morphology 102 3.986792e-21 3.737031207058823e-19 3.86713 72 0.01050635 628 0.009086235451910828 2.473913 11 15 0.001976285 Mouse Phenotype abnormal liver vasculature morphology 116 2.172296e-20 1.7904587979310345e-18 2.12333 186 0.0271414 488 0.003246431672336066 1.552415 52 113 0.009342436 Mouse Phenotype abnormal ilium morphology 117 2.340634e-20 1.912718091794872e-18 4.251774 62 0.009047133 472 0.002613657349576271 3.036166 9 10 0.00161696 Mouse Phenotype decreased body temperature 119 3.151472e-20 2.5320356127731088e-18 2.376052 145 0.02115862 812 0.02111370230541872 1.49145 42 95 0.007545814 Mouse Phenotype increased erythroid progenitor cell number 120 3.168188e-20 2.524253789e-18 3.015255 96 0.01400846 969 0.03516588094427245 1.686759 22 44 0.003952569 Mouse Phenotype decreased white fat cell size 147 3.396751e-18 2.2092745789795919e-16 2.686877 103 0.01502991 988 0.037103870104251015 1.621884 25 52 0.004491556 Mouse Phenotype increased bone volume 164 1.944258e-17 1.1334787035365854e-15 2.281485 134 0.01955348 1008 0.03766877495535715 1.494596 35 79 0.006288178 Mouse Phenotype thin myocardium 166 2.353104e-17 1.355302852048193e-15 2.001891 180 0.02626587 544 0.004676641879963235 1.557008 48 104 0.008623787 Mouse Phenotype ocular hypertension 230 8.670921e-15 3.6044641600434783e-13 3.140155 64 0.009338976 628 0.009086235451910828 2.473913 11 15 0.001976285 Mouse Phenotype abnormal Mullerian duct morphology 234 1.6817e-14 6.871253717948717e-13 2.445608 95 0.01386254 201 0.00003313726060447761 2.223455 29 44 0.005210205 Mouse Phenotype decreased hepatocyte proliferation 240 2.186659e-14 8.71110279125e-13 2.801598 74 0.01079819 888 0.026741417152027023 1.775536 20 38 0.003593245 Mouse Phenotype glomerulonephritis 247 4.77388e-14 1.847897436437247e-12 2.021402 139 0.02028309 813 0.021240190745387452 1.433745 51 120 0.009162774 Mouse Phenotype abnormal mesangial cell morphology 264 1.483364e-13 5.3721375772727276e-12 2.611539 78 0.01138188 830 0.02244600260240964 1.686759 25 50 0.004491556 Mouse Phenotype abnormal susceptibility to hearing loss 269 1.783419e-13 6.33876173197026e-12 2.357541 94 0.01371662 980 0.036020960182653064 1.730009 20 39 0.003593245