# 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 striated muscle cell differentiation 42 6.882645e-11 2.1563982275e-8 2.87086 51 0.03459973 239 0.04369249390878661 2.33971 17 93 0.01158828 GO Biological Process regulation of osteoblast differentiation 43 7.071788e-11 2.1641315881860467e-8 2.486139 65 0.04409769 144 0.00858332145013889 2.465976 21 109 0.01431493 GO Biological Process negative regulation of sequence-specific DNA binding transcription factor activity 53 1.182467e-10 2.9358647647169808e-8 2.615021 58 0.03934871 90 0.0012549442953555556 2.486251 27 139 0.01840491 GO Biological Process Notch signaling pathway 54 1.314341e-10 3.2028542998148146e-8 2.661313 56 0.03799186 92 0.0012561170896413043 2.648191 24 116 0.01635992 GO Biological Process cell fate specification 96 3.799912e-9 5.208650209166667e-7 2.464702 54 0.03663501 55 0.00009134568674727274 3.555442 20 72 0.01363327 GO Biological Process negative regulation of cysteine-type endopeptidase activity 122 1.644747e-8 0.0000017740348994262295 2.982133 36 0.02442334 232 0.04198449849784482 2.231121 19 109 0.0129516 GO Biological Process loop of Henle development 138 3.554407e-8 0.0000033893073705072463 4.843852 19 0.01289009 93 0.001382444214032258 7.466428 7 12 0.004771643 GO Biological Process negative regulation of auditory receptor cell differentiation 212 0.000001092747 0.00006782763100471698 10.87386 8 0.005427408 209 0.02996877881291866 12.79959 3 3 0.00204499 GO Biological Process columnar/cuboidal epithelial cell differentiation 221 0.000001507599 0.0000897669467918552 2.158163 47 0.03188602 184 0.019522320515217392 2.47734 18 93 0.01226994 GO Biological Process somite development 248 0.000002739016 0.00014533351429032258 2.298954 39 0.02645862 191 0.020337392959162304 2.625557 16 78 0.01090661 GO Biological Process negative regulation of epidermis development 279 0.000004952481 0.00023358314508602153 3.981118 16 0.01085482 148 0.009485762953378378 5.599821 7 16 0.004771643 GO Biological Process neuron fate commitment 310 0.000009102893 0.00038640312576451616 2.109139 42 0.02849389 176 0.017340728328977272 2.78252 15 69 0.01022495 GO Biological Process regulation of Notch signaling pathway 345 0.00001657665 0.0006322670647826087 2.362873 31 0.02103121 200 0.02492248805 2.666581 15 72 0.01022495 GO Biological Process cell proliferation involved in kidney development 348 0.000018066 0.0006831336034482758 3.769767 15 0.01017639 213 0.032241119195305167 6.399796 5 10 0.003408316 GO Biological Process segment specification 360 0.0000208479 0.0007620486558333334 3.235359 18 0.01221167 148 0.009485762953378378 5.599821 7 16 0.004771643 GO Biological Process regulation of mesenchymal cell apoptotic process 386 0.0000306275 0.0010441121049222797 3.597415 15 0.01017639 154 0.011772579722727274 6.399796 6 12 0.00408998 GO Biological Process endocardial cushion development 424 0.00005159882 0.0016013888499528302 2.375522 27 0.0183175 212 0.03171482866792453 3.368313 10 38 0.006816633 GO Biological Process mesenchyme morphogenesis 453 0.00007586444 0.002203753125739514 2.241144 29 0.01967436 139 0.007325757303597123 3.571979 12 43 0.008179959 GO Biological Process mammary gland epithelium development 504 0.0001592332 0.0041574398388888895 2.143442 29 0.01967436 236 0.04328222594576271 2.844354 12 54 0.008179959 GO Biological Process regulation of epidermis development 550 0.0002343677 0.005607353753272727 2.063086 30 0.02035278 191 0.020337392959162304 2.625557 16 78 0.01090661 GO Molecular Function core promoter binding 13 8.480657e-9 0.0000027542564503076926 2.151125 68 0.04613297 21 0.04719902470476191 2.069395 27 167 0.01840491 Human Phenotype Hypotelorism 1 3.623402e-11 2.4178961546e-7 3.966335 34 0.02306649 1 0.021680503597000002 4.378807 13 38 0.008861622 Mouse Phenotype Single KO abnormal notochord morphology 51 1.695292e-8 0.000003043880165490196 2.978462 36 0.02442334 122 0.046176341658196715 2.773245 13 60 0.008861622 Mouse Phenotype Single KO abnormal cervical atlas morphology 68 7.30232e-8 0.000009833432976470589 3.415274 27 0.0183175 109 0.04544402356330275 3.128789 11 45 0.007498296 Mouse Phenotype Single KO kinked tail 125 0.000002804936 0.000205478391616 2.148197 45 0.03052917 63 0.013358382763174602 2.534572 20 101 0.01363327 Mouse Phenotype Single KO decreased susceptibility to diet-induced obesity 270 0.00008518103 0.0028888988581851852 2.100359 33 0.02238806 83 0.03394772403493976 2.327198 20 110 0.01363327 Mouse Phenotype Single KO abnormal pterygoid process morphology 329 0.0002044457 0.0056903017474164135 2.607068 19 0.01289009 111 0.045150007422522516 4.479857 7 20 0.004771643 Mouse Phenotype Single KO abnormal basisphenoid bone morphology 379 0.0004092369 0.009887552225065963 2.115636 26 0.01763908 90 0.03604209444222222 3.274314 11 43 0.007498296 Mouse Phenotype Single KO abnormal circulating glucagon level 430 0.0006614294 0.014085369804186046 2.303678 20 0.01356852 95 0.03899057347263158 3.459349 10 37 0.006816633 Mouse Phenotype kinked tail 6 6.445124e-18 1.0270305094e-14 3.100244 79 0.05359566 117 0.007639108251282051 2.355125 23 125 0.01567825 Mouse Phenotype abnormal vertebral body morphology 41 5.017584e-11 1.1700761127804877e-8 3.312342 42 0.02849389 39 0.0013508906056153847 3.399891 17 64 0.01158828 Mouse Phenotype abnormal spleen white pulp morphology 48 1.822294e-10 3.62978186125e-8 2.039294 94 0.06377205 233 0.032018685176394855 1.621987 46 363 0.03135651 Mouse Phenotype abnormal notochord morphology 57 8.391814e-10 1.407616379894737e-7 2.79906 47 0.03188602 99 0.006741112461515151 2.74277 18 84 0.01226994 Mouse Phenotype abnormal kidney development 66 2.211325e-9 3.203405806818182e-7 2.212293 69 0.0468114 201 0.023742931191044776 2.245542 20 114 0.01363327 Mouse Phenotype abnormal urinary system development 88 1.1349e-8 0.0000012330430568181817 2.013015 78 0.05291723 60 0.0030564827890000004 2.383372 27 145 0.01840491 Mouse Phenotype absent tympanic ring 91 1.269207e-8 0.0000013335041897802197 3.97891 25 0.01696065 35 0.0012992429241428572 6.062964 9 19 0.006134969 Mouse Phenotype abnormal pancreas development 110 5.013749e-8 0.000004357859471727272 2.671486 40 0.02713704 36 0.00131730422225 3.764586 15 51 0.01022495 Mouse Phenotype abnormal cervical atlas morphology 119 6.401984e-8 0.0000051436444557983194 3.345652 28 0.01899593 215 0.028871378381860466 2.898021 12 53 0.008179959 Mouse Phenotype abnormal cochlear inner hair cell number 128 9.038934e-8 0.0000067516599979687504 3.206516 29 0.01967436 246 0.035926273682926835 3.388127 9 34 0.006134969 Mouse Phenotype abnormal basisphenoid bone morphology 133 1.167884e-7 0.00000839559317593985 2.424027 45 0.03052917 27 0.0007392873276666667 3.626551 17 60 0.01158828 Mouse Phenotype abnormal sphenoid bone morphology 154 2.39643e-7 0.000014878095603896104 2.066013 60 0.04070556 16 0.00026329314849375 3.102931 24 99 0.01635992 Mouse Phenotype abnormal circulating aldosterone level 193 0.000001188838 0.00005889367936787564 3.195465 24 0.01628223 179 0.018921240365363128 3.274314 11 43 0.007498296 Mouse Phenotype abnormal aldosterone level 205 0.000001757036 0.0000819464448585366 2.958278 26 0.01763908 156 0.014952539832692308 3.199898 12 48 0.008179959 Mouse Phenotype abnormal basicranium morphology 206 0.000001764619 0.00008190059349029125 2.088073 50 0.0339213 44 0.001975469482909091 2.859483 21 94 0.01431493 Mouse Phenotype abnormal spleen B cell follicle morphology 218 0.000002353082 0.00010320099542201835 2.066087 50 0.0339213 263 0.03923449051711027 1.856935 28 193 0.01908657 Mouse Phenotype increased cochlear inner hair cell number 224 0.000003240457 0.00013831254186160712 3.566512 19 0.01289009 138 0.011719430391304348 5.27042 7 17 0.004771643 Mouse Phenotype increased circulating aldosterone level 227 0.000003291215 0.0001386224961013216 3.301715 21 0.01424695 158 0.015242981274683542 3.972287 9 29 0.006134969 Mouse Phenotype decreased osteoblast cell number 235 0.000004082962 0.00016611574332765956 2.695391 28 0.01899593 166 0.017301101790361442 3.134594 12 49 0.008179959 Mouse Phenotype fused synovial joints 248 0.00000549979 0.0002120302104435484 4.791232 13 0.008819539 200 0.023404873852499997 8.533061 4 6 0.002726653