# 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 platelet-derived growth factor receptor-beta signaling pathway 1 2.627607e-14 3.4576680513e-10 20.55575 14 0.01134522 112 0.00010192458538214285 10.22712 6 6 0.003267974 GO Biological Process negative regulation of vascular smooth muscle cell differentiation 19 7.828264e-9 0.000005421690840842105 20.95015 8 0.006482982 437 0.028108668890846684 10.22712 3 3 0.001633987 GO Biological Process positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway 22 1.343416e-8 0.00000803545961090909 26.6381 7 0.005672609 437 0.028108668890846684 10.22712 3 3 0.001633987 GO Biological Process metanephric glomerular mesangium development 25 2.73104e-8 0.000014375102144 23.98405 7 0.005672609 437 0.028108668890846684 10.22712 3 3 0.001633987 GO Biological Process transforming growth factor beta receptor signaling pathway 44 2.587991e-7 0.00007739857629318182 2.745632 34 0.02755267 260 0.0035479781670769233 2.41932 22 93 0.01198257 GO Biological Process positive regulation of cell junction assembly 48 3.357602e-7 0.00009204725982916668 4.169539 19 0.01539708 393 0.01687841646259542 3.299072 10 31 0.005446623 GO Biological Process positive regulation of focal adhesion assembly 53 4.714245e-7 0.00011704669802830188 4.514948 17 0.01377634 337 0.010460791954599405 3.835172 9 24 0.004901961 GO Biological Process positive regulation of adherens junction organization 57 7.361838e-7 0.00016995513375789474 4.368007 17 0.01377634 398 0.017674464562060302 3.540158 9 26 0.004901961 GO Biological Process negative regulation of cellular amide metabolic process 59 8.100028e-7 0.0001806580821220339 2.41833 39 0.03160454 378 0.01468878596825397 1.925887 29 154 0.01579521 GO Biological Process mRNA transcription from RNA polymerase II promoter 64 0.000001281277 0.000263442563171875 8.83177 9 0.007293355 486 0.03997181630658436 3.767888 7 19 0.003812636 GO Biological Process mRNA transcription 65 0.000001290446 0.0002612458294461538 7.585436 10 0.008103728 512 0.04992815023242187 3.27268 8 25 0.004357298 GO Biological Process platelet-derived growth factor receptor signaling pathway 71 0.00000187546 0.00034759405830985917 3.554621 20 0.01620746 316 0.007979538479430379 3.409041 11 33 0.005991285 GO Biological Process vesicle docking involved in exocytosis 74 0.000002343648 0.00041675762205405407 4.225242 16 0.01296596 443 0.028456254327990968 2.884573 11 39 0.005991285 GO Biological Process negative regulation of translation 79 0.000002955614 0.0004923155015949368 2.381619 36 0.02917342 410 0.020137638146097564 1.930995 27 143 0.01470588 GO Biological Process regulation of platelet-derived growth factor receptor-beta signaling pathway 92 0.000006217378 0.0008892877945869566 7.250076 9 0.007293355 483 0.040054715517598344 5.113562 5 10 0.002723312 GO Biological Process vesicle docking 111 0.00001467387 0.0017395806786486487 3.081488 20 0.01620746 380 0.014636028492105262 2.600116 15 59 0.008169935 GO Biological Process membrane docking 133 0.00004104249 0.004060737788796992 2.125451 35 0.02836305 500 0.046403029106 1.765396 29 168 0.01579521 GO Biological Process establishment or maintenance of cytoskeleton polarity 154 0.00007308589 0.006245046925389611 8.891968 6 0.004862237 372 0.013670934623118282 6.391953 5 8 0.002723312 GO Biological Process glucose metabolic process 174 0.0001096414 0.008291788405747126 2.352516 25 0.02025932 385 0.015614100264415584 2.100213 23 112 0.01252723 GO Biological Process positive regulation of protein localization to nucleus 180 0.0001181887 0.008640250573888888 2.035099 34 0.02755267 506 0.048715658237154146 1.873672 24 131 0.0130719 GO Cellular Component TORC2 complex 24 2.580137e-7 0.0000185769864 9.085246 10 0.008103728 28 0.0026510679771428567 5.965822 7 12 0.003812636 GO Cellular Component TOR complex 25 4.897511e-7 0.000033851596032 7.39885 11 0.0089141 26 0.001874269883076923 5.454466 8 15 0.004357298 GO Cellular Component ruffle membrane 26 0.00001829849 0.0012161457969230769 2.578805 26 0.02106969 29 0.00528842304 2.440564 21 88 0.01143791 GO Molecular Function Ral GTPase binding 7 3.885653e-8 0.00002343603852285714 9.577273 11 0.0089141 25 0.00114022000304 6.293615 8 13 0.004357298 Human Phenotype Elbow flexion contracture 8 0.000004427714 0.00369326694025 3.636736 18 0.01458671 9 0.03508876194555556 3.254085 14 44 0.007625272 Human Phenotype Abnormality of the elbow 31 0.00009556871 0.020571935542903225 2.034005 35 0.02836305 5 0.033164996844 2.32044 27 119 0.01470588 Mouse Phenotype Single KO mesangial cell hypoplasia 1 1.731343e-11 1.5853907851e-7 70.32769 7 0.005672609 214 0.03994277837336449 10.22712 3 3 0.001633987 Mouse Phenotype Single KO abnormal mean corpuscular volume 21 0.00001688213 0.007361412590952382 2.030331 43 0.03484603 205 0.035575597157073174 1.728528 36 213 0.01960784 Mouse Phenotype Single KO decreased hematocrit 26 0.00002081302 0.007330185543846153 2.095833 39 0.03160454 233 0.04976998491845493 1.823946 28 157 0.01525054 Mouse Phenotype Single KO decreased circulating leptin level 31 0.00003355172 0.009910745162580645 2.308391 30 0.02431118 81 0.0029359003825925926 2.45451 24 100 0.0130719 Mouse Phenotype Single KO myeloid hyperplasia 57 0.0001618459 0.02600040186491228 3.085796 15 0.01215559 143 0.012270412017482517 3.409041 11 33 0.005991285 Mouse Phenotype Single KO oxidative stress 80 0.0003870479 0.04430247025375 2.346121 21 0.01701783 210 0.03766867560809523 2.130651 20 96 0.01089325 Mouse Phenotype Single KO abnormal mean corpuscular hemoglobin concentration 88 0.0004578305 0.047640385096590916 2.315321 21 0.01701783 162 0.01725642867716049 2.422214 18 76 0.009803922 Mouse Phenotype mesangial cell hypoplasia 1 1.731343e-11 1.6553370422999998e-7 70.32769 7 0.005672609 335 0.026641418264776118 10.22712 3 3 0.001633987 Mouse Phenotype abnormal mean corpuscular volume 20 0.00000346015 0.0016541247074999999 2.033303 50 0.04051864 226 0.00951891890840708 1.753221 42 245 0.02287582 Mouse Phenotype increased monocyte cell number 24 0.00000613889 0.0024455803037499997 2.189751 40 0.03241491 463 0.04581922366522678 1.704521 31 186 0.01688453 Mouse Phenotype radius hypoplasia 44 0.00004876056 0.010595448049090909 13.10491 5 0.004051864 335 0.026641418264776118 10.22712 3 3 0.001633987 Mouse Phenotype abnormal fourth pharyngeal arch artery morphology 45 0.0000568965 0.0120886097 2.986687 18 0.01458671 40 0.00000976621969425 5.302953 14 27 0.007625272 Mouse Phenotype aneurysm 48 0.00006119914 0.012190103698750001 2.557379 23 0.01863857 399 0.03243764543609022 2.426775 14 59 0.007625272 Mouse Phenotype decreased cerebellar granule cell precursor proliferation 58 0.0001708937 0.028170942512068968 4.696463 9 0.007293355 236 0.01051394811101695 5.578431 6 11 0.003267974 Mouse Phenotype abnormal fourth pharyngeal arch morphology 64 0.0002195712 0.032801878799999996 2.672623 18 0.01458671 61 0.000058042620998360655 4.618701 14 31 0.007625272 Mouse Phenotype decreased circulating leptin level 66 0.0002200104 0.03187150658181818 2.069016 30 0.02431118 217 0.008988833630875576 2.172133 24 113 0.0130719 Mouse Phenotype polychromatophilia 76 0.0003287355 0.04135579099342105 3.368654 12 0.009724473 371 0.029256221894878708 3.007978 10 34 0.005446623 Mouse Phenotype abnormal mean corpuscular hemoglobin concentration 80 0.0003668504 0.043843208429999996 2.301933 22 0.0178282 269 0.014015487671375466 2.313278 19 84 0.01034858 Mouse Phenotype abnormal cerebellum fissure morphology 81 0.0003702263 0.04370041548518519 3.553504 11 0.0089141 352 0.02764180166761364 3.977215 7 18 0.003812636