# 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 negative regulation of Ras protein signal transduction 211 0.000009057053 0.000564842466478673 2.039693 46 0.01226994 375 0.004664195268266666 2.073741 23 47 0.005190702 GO Biological Process negative regulation of heart contraction 270 0.00004545683 0.002215431207296296 2.316832 29 0.007735396 381 0.005012532496850394 2.579435 14 23 0.003159558 GO Biological Process transdifferentiation 275 0.00005235835 0.0025053946460000002 4.130685 12 0.003200854 393 0.005767130976590331 4.237644 6 6 0.001354096 GO Biological Process striated muscle hypertrophy 276 0.00005373793 0.0025620921046014492 2.106267 35 0.009335823 412 0.007754148355582524 2.33801 16 29 0.003610923 GO Biological Process epithelial cell morphogenesis 321 0.00009920188 0.004066658999750779 2.039424 35 0.009335823 273 0.0010304253763003665 2.542586 18 30 0.004062288 GO Biological Process cardiac muscle hypertrophy 373 0.0001734009 0.006117379204021447 2.025529 33 0.008802347 461 0.016519934195661605 2.270166 15 28 0.00338524 GO Biological Process myoblast fate commitment 440 0.0003360983 0.010051630749318181 3.367023 12 0.003200854 483 0.01990234725879917 4.237644 5 5 0.001128413 GO Biological Process regulation of transforming growth factor beta production 510 0.0006057889 0.01563054144137255 2.098675 25 0.006668445 461 0.016519934195661605 2.270166 15 28 0.00338524 GO Biological Process mitochondrion transport along microtubule 549 0.0007809721 0.018719147293078324 2.652146 15 0.004001067 372 0.004479864816935484 2.825096 12 18 0.002708192 GO Biological Process establishment of mitochondrion localization 550 0.0007836059 0.018748127341999998 2.555287 16 0.004267805 354 0.003588304663163842 2.754469 13 20 0.002933875 GO Biological Process mitochondrion localization 561 0.0008384723 0.019667481275757577 2.16557 22 0.005868232 563 0.03870512998934281 1.955836 18 39 0.004062288 GO Biological Process epithelial cell differentiation involved in prostate gland development 607 0.001165312 0.025262505120263592 2.109153 22 0.005868232 576 0.04249118774652778 2.825096 8 12 0.001805462 GO Biological Process negative regulation of Rho protein signal transduction 708 0.002249567 0.04181080812570622 2.077121 20 0.005334756 541 0.03339301783364141 2.453373 11 19 0.00248251 GO Biological Process striated muscle cell proliferation 722 0.002394768 0.043646471069252075 2.0243 21 0.005601494 450 0.014072015283333334 2.825096 10 15 0.002256827 Human Phenotype Short chin 348 0.0007531965 0.014442759323275862 2.032701 26 0.006935183 119 0.04117393525714285 2.589671 11 18 0.00248251 Mouse Phenotype Single KO decreased molar number 46 4.39512e-7 0.00008749155182608696 3.929901 20 0.005334756 336 0.00702671115952381 3.707938 7 8 0.001579779 Mouse Phenotype Single KO abnormal neural fold morphology 99 0.00001046031 0.0009675258451515151 2.027681 46 0.01226994 285 0.004270644872982456 2.073741 23 47 0.005190702 Mouse Phenotype Single KO impaired stratum corneum desquamation 149 0.00004651568 0.0028586851124832212 7.686348 7 0.001867165 641 0.04425352389235569 4.237644 4 4 0.0009027308 Mouse Phenotype Single KO abnormal neural fold formation 157 0.00005159105 0.0030090397761146494 2.195961 32 0.008535609 292 0.004367333935273972 2.421511 16 28 0.003610923 Mouse Phenotype Single KO abnormal cortical plate morphology 207 0.0001397203 0.006180767087439614 2.279518 26 0.006935183 371 0.009394701898113209 2.504062 13 22 0.002933875 Mouse Phenotype Single KO iris synechia 233 0.0002044189 0.008033750503433476 2.185009 27 0.007201921 186 0.0007077588070430107 2.966351 14 20 0.003159558 Mouse Phenotype Single KO abnormal iris stroma morphology 263 0.0002943754 0.010249412691254753 2.466311 20 0.005334756 343 0.007191000109037901 3.390115 8 10 0.001805462 Mouse Phenotype Single KO increased circulating noradrenaline level 266 0.0003014469 0.010377252869548872 2.914624 15 0.004001067 464 0.018194439971767243 3.295945 7 9 0.001579779 Mouse Phenotype Single KO increased noradrenaline level 278 0.0003203368 0.010551525458992806 2.897467 15 0.004001067 603 0.03712360174461028 2.966351 7 10 0.001579779 Mouse Phenotype Single KO abnormal deltoid tuberosity morphology 290 0.0003688935 0.01164813027413793 2.012109 30 0.008002134 513 0.024505631391812867 2.453373 11 19 0.00248251 Mouse Phenotype Single KO decreased digestive secretion 318 0.0004623964 0.013314980612578615 2.513706 18 0.00480128 333 0.006688888766366367 3.178233 9 12 0.002031144 Mouse Phenotype Single KO abnormal cerebellum fissure morphology 371 0.0007396723 0.01825654784663073 3.073616 12 0.003200854 475 0.01854631598168421 3.632266 6 7 0.001354096 Mouse Phenotype Single KO hypoplastic trabecular meshwork 376 0.0007883796 0.019199978715957446 3.050612 12 0.003200854 690 0.046739093044927536 3.53137 5 6 0.001128413 Mouse Phenotype Single KO anterior iris synechia 388 0.0008796543 0.020760294910051547 2.157327 22 0.005868232 304 0.004907278470394736 2.91338 11 16 0.00248251 Mouse Phenotype Single KO abnormal lateral nasal gland morphology 468 0.001764856 0.03453159485470085 2.926153 11 0.002934116 641 0.04425352389235569 4.237644 4 4 0.0009027308 Mouse Phenotype Single KO calcified joint 470 0.001769435 0.0344738644574468 2.925164 11 0.002934116 690 0.046739093044927536 3.53137 5 6 0.001128413 Mouse Phenotype abnormal zigzag hair morphology 90 7.611418e-7 0.00008085863055333333 2.349106 42 0.01120299 261 0.0004019818048275862 2.630262 18 29 0.004062288 Mouse Phenotype decreased molar number 111 0.000002309234 0.00019890618264864864 3.517634 20 0.005334756 617 0.014286360767747166 3.295945 7 9 0.001579779 Mouse Phenotype abnormal intestine development 125 0.000004092638 0.000313037695344 2.598799 30 0.008002134 605 0.01302993308231405 2.281808 14 26 0.003159558 Mouse Phenotype abnormal skin sebaceous gland morphology 150 0.000009483797 0.00060449722078 2.160262 40 0.01066951 319 0.0011909289498432602 2.460567 18 31 0.004062288 Mouse Phenotype decreased CD8-positive, alpha-beta memory T cell number 183 0.00001735697 0.0009068305473770492 2.493798 28 0.007468658 958 0.04575940508768267 2.040347 13 27 0.002933875 Mouse Phenotype iris synechia 220 0.00004506106 0.0019583127029999996 2.099968 36 0.009602561 184 0.000054506325684782606 2.933753 18 26 0.004062288 Mouse Phenotype impaired stratum corneum desquamation 223 0.00004651568 0.0019943337061883405 7.686348 7 0.001867165 846 0.03500947753546099 4.237644 4 4 0.0009027308 Mouse Phenotype enlarged allantois 237 0.00005789605 0.002335629257594937 2.516457 24 0.006401707 876 0.037589147900684926 2.354247 10 18 0.002256827 Mouse Phenotype abnormal neural fold formation 243 0.00007388904 0.0029072144503703703 2.123998 33 0.008802347 579 0.011897548224352333 2.118822 17 34 0.003836606 Mouse Phenotype short hair 251 0.00007932355 0.0030215635918326694 2.412041 25 0.006668445 919 0.04139353280957562 2.219718 11 21 0.00248251 Mouse Phenotype abnormal articular cartilage morphology 291 0.0001556635 0.005114428603092784 2.593453 20 0.005334756 749 0.0247461146435247 2.492732 10 17 0.002256827 Mouse Phenotype anterior iris synechia 305 0.0001873471 0.005872870895409835 2.068874 31 0.008268872 265 0.00041622604845283014 2.889303 15 22 0.00338524 Mouse Phenotype disorganized retinal outer nuclear layer 406 0.0004875964 0.011482534927093597 2.780388 15 0.004001067 976 0.04843241123668033 2.383675 9 16 0.002031144 Mouse Phenotype increased circulating noradrenaline level 415 0.0005601259 0.012904490915421686 2.639316 16 0.004267805 593 0.01261057043322091 3.081923 8 11 0.001805462 Mouse Phenotype increased noradrenaline level 421 0.0005902616 0.013404967120190023 2.626115 16 0.004267805 739 0.024063419780784846 2.825096 8 12 0.001805462 Mouse Phenotype decreased digestive secretion 425 0.0005958726 0.013405030420235295 2.458136 18 0.00480128 566 0.010545945165371025 2.933753 9 13 0.002031144 Mouse Phenotype abnormal pancreatic epsilon cell morphology 449 0.0007256295 0.015451544876391984 2.671952 15 0.004001067 884 0.03809142417760181 3.53137 5 6 0.001128413 Mouse Phenotype hypoplastic trabecular meshwork 457 0.0007883796 0.01649386729890591 3.050612 12 0.003200854 884 0.03809142417760181 3.53137 5 6 0.001128413 Mouse Phenotype abnormal lateral nasal gland morphology 587 0.001764856 0.02874580616013629 2.926153 11 0.002934116 846 0.03500947753546099 4.237644 4 4 0.0009027308 Mouse Phenotype calcified joint 590 0.001769435 0.028673844127118642 2.925164 11 0.002934116 884 0.03809142417760181 3.53137 5 6 0.001128413