# 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 determination of heart left/right asymmetry 97 8.604328e-18 1.1672613623917526e-15 2.01256 184 0.01392884 517 0.005458755351257253 1.440228 46 62 0.004755505 GO Biological Process ventral spinal cord interneuron differentiation 131 1.885333e-12 1.8938241944274812e-10 2.239428 96 0.007267222 748 0.03052990035026738 1.712803 15 17 0.001550708 GO Biological Process regulation of transcription involved in cell fate commitment 168 1.365556e-10 1.0696042502380954e-8 2.208573 82 0.006207419 562 0.00920826312758007 1.819853 15 16 0.001550708 GO Biological Process metanephric tubule morphogenesis 198 1.110918e-9 7.383116142424242e-8 2.608885 53 0.004012112 707 0.024444061615275813 1.941176 10 10 0.001033805 GO Biological Process heterochromatin assembly 350 2.917924e-7 0.000010970560547428573 2.975824 30 0.002271007 707 0.024444061615275813 1.941176 10 10 0.001033805 GO Biological Process negative regulation of glycolytic process 422 0.000002161472 0.00006740002381042654 2.256165 42 0.00317941 552 0.00829976987192029 1.941176 12 12 0.001240567 Human Phenotype Tethered cord 5 5.11038e-16 6.820313148e-13 4.396279 46 0.00348221 184 0.02452393504673913 1.941176 11 11 0.001137186 Human Phenotype Aplasia cutis congenita 17 1.443956e-13 5.667951992941176e-11 2.718998 73 0.005526117 216 0.036086749875 1.663866 18 21 0.00186085 Human Phenotype Abnormality of metacarpal epiphyses 20 1.811046e-13 6.042554979000001e-11 3.92887 43 0.00325511 227 0.03860692076651982 1.941176 10 10 0.001033805 Human Phenotype Low posterior hairline 54 3.48351e-10 4.3047152277777775e-8 2.025252 96 0.007267222 191 0.026134699688481675 1.541522 27 34 0.002791275 Human Phenotype Preaxial hand polydactyly 55 3.553004e-10 4.3107628530909086e-8 2.237836 76 0.005753217 239 0.04845374189958159 1.712803 15 17 0.001550708 Human Phenotype Abnormality of the distal phalanx of the thumb 96 6.311812e-9 4.3873668204166667e-7 2.221719 66 0.004996215 239 0.04845374189958159 1.712803 15 17 0.001550708 Human Phenotype Abnormality of the phalanges of the hallux 210 6.004677e-7 0.00001908057601 2.436658 40 0.003028009 131 0.009130732120610687 1.941176 13 13 0.001343947 Mouse Phenotype Single KO artery stenosis 112 1.215573e-8 9.938394608035714e-7 2.013258 80 0.006056018 840 0.035017545328571424 1.552941 20 25 0.002067611 Mouse Phenotype Single KO abnormal filiform papillae morphology 169 1.163964e-7 0.000006306756418934911 4.289066 20 0.001514005 923 0.04913846602383532 1.941176 8 8 0.0008270444 Mouse Phenotype Single KO abnormal gonial bone morphology 174 1.283677e-7 0.0000067555346488505755 2.287927 51 0.003860712 519 0.00614282436204239 1.941176 12 12 0.001240567 Mouse Phenotype Single KO sacral vertebral fusion 266 0.000001623423 0.00005588603162030075 2.233733 44 0.00333081 891 0.04403611577216611 1.779412 11 12 0.001137186 Mouse Phenotype Single KO abnormal soft palate morphology 437 0.00002442593 0.0005118266384668193 2.143141 37 0.002800908 790 0.029563571549367087 1.941176 9 9 0.0009304249 Mouse Phenotype Single KO bowed fibula 438 0.00002478693 0.0005182052922602739 2.011918 43 0.00325511 923 0.04913846602383532 1.941176 8 8 0.0008270444 Mouse Phenotype Single KO increased kidney tumor incidence 446 0.00002621444 0.0005382188947982063 3.477705 16 0.001211204 923 0.04913846602383532 1.941176 8 8 0.0008270444 Mouse Phenotype Single KO abnormal roof plate morphology 686 0.0002282118 0.00304626159271137 2.047643 31 0.002346707 923 0.04913846602383532 1.941176 8 8 0.0008270444 Mouse Phenotype abnormal optic stalk morphology 44 1.958651e-14 4.2560595934090904e-12 2.145278 125 0.009462528 1398 0.0440027927360515 1.472617 22 29 0.002274372 Mouse Phenotype meteorism 85 1.207826e-11 1.3585911042352943e-9 2.042199 110 0.008327025 867 0.008354246309688581 1.630588 21 25 0.002170991 Mouse Phenotype failure of endochondral bone ossification 90 2.538893e-11 2.6971506636666666e-9 2.460665 71 0.005374716 980 0.01281289122244898 1.941176 10 10 0.001033805 Mouse Phenotype bowed fibula 164 2.357311e-9 1.3742835653048781e-7 2.249105 68 0.005147615 1117 0.021831366564010742 1.941176 9 9 0.0009304249 Mouse Phenotype fusion of glossopharyngeal and vagus nerve 211 1.93158e-8 8.752529090047394e-7 2.461617 50 0.003785011 1256 0.032617237316082806 1.779412 11 12 0.001137186 Mouse Phenotype abnormal roof plate morphology 347 3.714913e-7 0.000010235816482132565 2.268503 48 0.003633611 677 0.0025314562254062038 1.941176 13 13 0.001343947 Mouse Phenotype absent metanephros 449 0.000002510575 0.00005346015050111359 2.242183 42 0.00317941 744 0.004474171471370968 1.941176 12 12 0.001240567 Mouse Phenotype abnormal midbrain-hindbrain boundary development 511 0.000004858805 0.00009091004815068493 2.042364 49 0.003709311 1256 0.032617237316082806 1.779412 11 12 0.001137186 Mouse Phenotype abnormal temporomandibular joint morphology 587 0.000009849282 0.00016042416559114138 2.00284 48 0.003633611 1302 0.03637160078341013 1.941176 8 8 0.0008270444 Mouse Phenotype absent endolymphatic duct 588 0.00001026346 0.00016688595418367348 2.016216 47 0.003557911 1117 0.021831366564010742 1.941176 9 9 0.0009304249 Mouse Phenotype abnormal frontal lobe morphology 724 0.00003837088 0.0005067182095027624 2.096123 37 0.002800908 852 0.008069983371478873 1.811765 14 15 0.001447328