# 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 63 1.257354e-10 2.62627322e-8 3.796665 34 0.009895227 420 0.005850046500476191 2.941846 11 17 0.002663438 GO Biological Process paraxial mesoderm morphogenesis 80 2.406752e-9 3.958806196e-7 3.82071 29 0.008440047 274 0.00046111844640875913 4.09184 9 10 0.002179177 GO Biological Process negative regulation of transforming growth factor beta receptor signaling pathway 83 3.435489e-9 5.446698765180724e-7 2.440177 56 0.01629802 268 0.000435786603 2.103599 31 67 0.007506053 GO Biological Process mesoderm morphogenesis 85 4.609807e-9 7.136523566235294e-7 2.084558 77 0.02240978 259 0.00030535723696138993 2.108517 32 69 0.007748184 GO Biological Process negative regulation of cellular response to transforming growth factor beta stimulus 86 4.861307e-9 7.438364978255813e-7 2.415246 56 0.01629802 300 0.0008119094227333332 2.042626 31 69 0.007506053 GO Biological Process mesoderm formation 111 5.651006e-8 0.000006699242158018017 2.022078 71 0.02066356 268 0.000435786603 2.103599 31 67 0.007506053 GO Biological Process regulation of cyclin-dependent protein kinase activity 142 7.396883e-7 0.00006854618549084507 2.111328 53 0.01542491 304 0.0008826953313157893 1.925572 36 85 0.008716707 GO Biological Process regulation of cyclin-dependent protein serine/threonine kinase activity 149 0.000001260038 0.00011128080565100671 2.124497 50 0.0145518 335 0.001680954621164179 1.908403 34 81 0.008232446 GO Biological Process negative regulation of cyclin-dependent protein serine/threonine kinase activity 214 0.00001536048 0.0009445259641121495 3.081504 20 0.005820722 639 0.04790572047261346 2.273245 12 24 0.002905569 GO Biological Process positive regulation of cardiac muscle cell proliferation 267 0.00004889506 0.0024097756349812736 2.116149 35 0.01018626 210 0.0000897749590095238 3.162775 16 23 0.003874092 GO Biological Process negative regulation of blood circulation 361 0.0001890697 0.006891878621329639 2.040456 32 0.009313155 538 0.02558300381040892 2.199914 15 31 0.003631961 GO Biological Process regulation of transforming growth factor beta2 production 410 0.0003250934 0.010433912318536586 3.187024 13 0.003783469 614 0.04468708530456026 3.409867 6 8 0.001452785 GO Biological Process sequestering of extracellular ligand from receptor 427 0.0003871782 0.011931798439812647 2.973793 14 0.004074505 614 0.04468708530456026 3.409867 6 8 0.001452785 GO Biological Process regulation of mesoderm development 433 0.0004121478 0.01252529538152425 2.399949 20 0.005820722 493 0.014887201097768763 2.841556 10 16 0.002421308 GO Biological Process paraxial mesoderm formation 491 0.0006546295 0.017544337251527493 2.699547 15 0.004365541 498 0.016950839836345384 3.896991 6 7 0.001452785 GO Biological Process regulation of cell fate specification 516 0.0008039611 0.02050256611414729 2.219228 21 0.006111758 334 0.0015205910028742516 3.497299 10 13 0.002421308 GO Biological Process regulation of mesodermal cell fate specification 568 0.001162749 0.026937700864436618 3.08776 11 0.003201397 498 0.016950839836345384 3.896991 6 7 0.001452785 GO Biological Process negative regulation of regulated secretory pathway 629 0.001590312 0.0332701361017488 2.141716 20 0.005820722 521 0.02189532576871401 2.479903 12 22 0.002905569 GO Biological Process positive regulation of lipopolysaccharide-mediated signaling pathway 669 0.001942857 0.03821532924215247 2.41217 15 0.004365541 614 0.04468708530456026 3.409867 6 8 0.001452785 Human Phenotype Cutis marmorata 226 0.0009692137 0.028617535487168142 2.099444 23 0.00669383 101 0.038120411042574256 2.462682 13 24 0.0031477 Human Phenotype Hypoplastic iliac wing 231 0.001102985 0.0318624195021645 2.118273 22 0.006402794 95 0.034577877455789476 2.597994 12 21 0.002905569 Mouse Phenotype Single KO failure of heart looping 89 0.000006092768 0.0006268705233258427 2.154818 42 0.01222352 349 0.012195271609742122 2.10691 19 41 0.004600484 Mouse Phenotype Single KO abnormal neural fold formation 120 0.00002451546 0.0018707338935 2.321125 31 0.009022119 295 0.007967235646101696 2.435619 15 28 0.003631961 Mouse Phenotype Single KO lymphoid hyperplasia 143 0.00004466418 0.0028600692046153843 2.621643 23 0.00669383 341 0.011385483503519062 2.351632 15 29 0.003631961 Mouse Phenotype Single KO large lymphoid organs 145 0.00004576159 0.002889923307793103 2.498998 25 0.007275902 346 0.011908567345664738 2.273245 16 32 0.003874092 Mouse Phenotype Single KO atrium hypoplasia 166 0.00007729007 0.004263525126445783 2.823455 19 0.005529686 265 0.005539155686792453 3.978178 7 8 0.001694915 Mouse Phenotype Single KO small face 172 0.00008950677 0.004765194726104652 2.225758 29 0.008440047 536 0.03755301075559701 2.381494 11 21 0.002663438 Mouse Phenotype Single KO abnormal thymus involution 186 0.0001174685 0.0057831131962365594 3.187798 15 0.004365541 569 0.03838601525483304 2.797839 8 13 0.001937046 Mouse Phenotype Single KO abnormal face size 216 0.0001940201 0.008225194702314816 2.092859 30 0.008731083 547 0.03894316414259598 2.273245 12 24 0.002905569 Mouse Phenotype Single KO premature hair loss 276 0.0004602378 0.015269556284782607 2.378451 20 0.005820722 297 0.008034684781818182 3.030993 10 15 0.002421308 Mouse Phenotype Single KO decreased brown adipose tissue amount 320 0.0006623138 0.018952523333125002 2.050989 26 0.007566938 307 0.00894186717198697 2.273245 17 34 0.004116223 Mouse Phenotype Single KO enlarged myocardial fiber 327 0.0007035321 0.01970105027431193 2.011248 27 0.007857974 396 0.01619816184368687 2.146953 17 36 0.004116223 Mouse Phenotype Single KO lymph node hyperplasia 343 0.0007848557 0.02095313016005831 2.176656 22 0.006402794 564 0.03853202280319149 2.18905 13 27 0.0031477 Mouse Phenotype Single KO abnormal pharynx morphology 345 0.0007937619 0.021068051357391305 2.395661 18 0.00523865 419 0.018945472402147973 2.479903 12 22 0.002905569 Mouse Phenotype Single KO abnormal impulse conducting system morphology 349 0.0008608866 0.022587789673925503 2.378175 18 0.00523865 486 0.029642942423868314 3.182542 7 10 0.001694915 Mouse Phenotype Single KO lung epithelium hyperplasia 358 0.00096082 0.024576057932960894 4.63358 7 0.002037253 551 0.03885122321052632 4.546489 4 4 0.000968523 Mouse Phenotype Single KO abnormal conotruncal ridge morphology 398 0.00130321 0.029983653190954772 2.089805 22 0.006402794 410 0.017906147219999998 2.922743 9 14 0.002179177 Mouse Phenotype Single KO thick ventricular wall 406 0.001358313 0.030635645667487686 2.044429 23 0.00669383 592 0.04515929229054054 1.932258 17 40 0.004116223 Mouse Phenotype Single KO abnormal conotruncus morphology 423 0.001552231 0.03360231505200945 2.060064 22 0.006402794 496 0.029787000993951613 2.727893 9 15 0.002179177 Mouse Phenotype Single KO abnormal folding of telencephalic vesicles 461 0.001997299 0.03967303024511931 2.726382 12 0.003492433 551 0.03885122321052632 4.546489 4 4 0.000968523 Mouse Phenotype Single KO premature suture closure 508 0.002653705 0.04783459977362205 2.005929 21 0.006111758 214 0.001814196393224299 3.719855 9 11 0.002179177 Mouse Phenotype abnormal hepatoblast physiology 47 1.541169e-8 0.000003135131235957447 6.734427 15 0.004365541 765 0.02921762862352941 4.546489 4 4 0.000968523 Mouse Phenotype failure of heart looping 73 1.457545e-7 0.0000190898462260274 2.095622 61 0.0177532 402 0.0032421398567164176 2.058788 24 53 0.005811138 Mouse Phenotype cyclopia 85 3.227476e-7 0.000036303409454117646 2.429779 42 0.01222352 226 0.00014454700547787612 3.030993 16 24 0.003874092 Mouse Phenotype abnormal liver development 91 4.033111e-7 0.00004237425744065934 2.01787 62 0.01804424 398 0.0031724503040201006 2.029683 25 56 0.006053269 Mouse Phenotype abnormal liver sinusoid morphology 111 8.879787e-7 0.00007648616532162163 2.097997 53 0.01542491 471 0.006101550068789809 1.806938 31 78 0.007506053 Mouse Phenotype lymphoid hyperplasia 121 0.0000013712 0.00010834746446280993 2.868464 28 0.00814901 390 0.002812576530769231 2.415322 17 32 0.004116223 Mouse Phenotype large lymphoid organs 125 0.000001658593 0.00012686246138399998 2.722583 30 0.008731083 431 0.004436947315545244 2.273245 18 36 0.004358354 Mouse Phenotype thick ventricular wall 126 0.000001781631 0.00013519185707142859 2.115931 49 0.01426077 223 0.000111279921632287 2.235978 30 61 0.007263923 Mouse Phenotype abnormal neural fold morphology 135 0.000003300525 0.00023375051500000002 2.002589 53 0.01542491 514 0.009042369693385214 1.89437 25 60 0.006053269 Mouse Phenotype abnormal prostate gland duct morphology 158 0.000008566241 0.0005183660139303798 3.814652 16 0.004656577 734 0.027160313055858313 3.409867 6 8 0.001452785 Mouse Phenotype proboscis 162 0.000009500001 0.0005606759849444444 2.756068 25 0.007275902 815 0.034851076785276075 2.5574 9 16 0.002179177 Mouse Phenotype abnormal neural fold formation 182 0.00001414109 0.0007428734147802197 2.317482 33 0.009604191 358 0.002051576145167598 2.406965 18 34 0.004358354 Mouse Phenotype thick interventricular septum 183 0.00001446778 0.0007558822108196721 2.31477 33 0.009604191 432 0.0045833508520833335 2.214956 19 39 0.004600484 Mouse Phenotype abnormal hair follicle orientation 214 0.00003972888 0.0017749898209345793 2.227043 32 0.009313155 773 0.029182002566623545 2.121695 14 30 0.003389831 Mouse Phenotype atrium hypoplasia 258 0.00007729007 0.0028642261987209304 2.823455 19 0.005529686 413 0.0037109875569007263 3.978178 7 8 0.001694915 Mouse Phenotype skin fibrosis 277 0.0001091859 0.003768687328158845 2.465455 23 0.00669383 516 0.00912125144011628 2.597994 12 21 0.002905569 Mouse Phenotype absent teeth 279 0.0001118467 0.0038328541172043006 2.461305 23 0.00669383 726 0.025901144082644628 2.525827 10 18 0.002421308 Mouse Phenotype increased follicular B cell number 300 0.0001417971 0.004519073577 2.276944 26 0.007566938 680 0.02210018119852941 2.131167 15 32 0.003631961 Mouse Phenotype abnormal urethra urothelium morphology 313 0.0001688409 0.005157469153035144 3.637014 12 0.003492433 765 0.02921762862352941 4.546489 4 4 0.000968523 Mouse Phenotype abnormal peritoneum morphology 318 0.0001793539 0.005392461125471698 3.612739 12 0.003492433 529 0.010541069372778829 3.536158 7 9 0.001694915