# 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 thymus development 26 1.053305e-17 5.3309386519230765e-15 2.981471 84 0.02254428 387 0.0232147779749354 2.148398 18 45 0.005148741 GO Biological Process regulation of myotube differentiation 28 7.390556e-17 3.4732973715714285e-14 3.565925 62 0.01663983 497 0.03844302561770624 1.953089 20 55 0.005720824 GO Biological Process cardiac vascular smooth muscle cell differentiation 36 3.041713e-15 1.1118305935277779e-12 9.402538 23 0.00617284 457 0.032586866975929975 4.47583 5 6 0.001430206 GO Biological Process tooth mineralization 37 3.387295e-15 1.2046868893243244e-12 4.517287 42 0.01127214 309 0.009141855400323626 3.452783 9 14 0.002574371 GO Biological Process preganglionic parasympathetic fiber development 42 4.357726e-15 1.365317057952381e-12 4.293433 44 0.01180891 288 0.006005406641319444 3.356872 10 16 0.002860412 GO Biological Process enamel mineralization 57 1.072365e-13 2.4756580763157897e-11 4.561698 37 0.00993022 474 0.03488636902742616 3.417906 7 11 0.002002288 GO Biological Process parasympathetic nervous system development 68 5.581455e-13 1.0800936227205883e-10 3.712577 44 0.01180891 362 0.01811942318314917 2.983886 10 18 0.002860412 GO Biological Process platelet-derived growth factor receptor signaling pathway 106 5.727646e-11 7.110386199433962e-9 2.943104 50 0.01341922 484 0.03664409024173554 2.278604 14 33 0.004004577 GO Biological Process regulation of glucose import 155 2.410713e-9 2.046617572064516e-7 2.443784 57 0.01529791 239 0.0019376016349790795 2.181967 26 64 0.007437071 GO Biological Process biomineral tissue development 166 5.464391e-9 4.3316819981325305e-7 2.178161 69 0.01851852 393 0.02375708113765903 1.861945 26 75 0.007437071 GO Biological Process regulation of glucose transport 167 5.624177e-9 4.431649409760479e-7 2.323935 60 0.01610306 311 0.009306654091318327 1.959688 27 74 0.007723112 GO Biological Process cranial nerve morphogenesis 198 2.483326e-8 0.000001650408425959596 2.718211 41 0.01100376 394 0.023817325761167515 2.493676 13 28 0.003718535 GO Biological Process positive regulation of glucose transport 208 3.384185e-8 0.000002140985116105769 2.580368 44 0.01180891 242 0.001986899160413223 2.399806 21 47 0.006006865 GO Biological Process positive regulation of glucose import 244 1.21432e-7 0.000006548867573770492 2.55794 41 0.01100376 233 0.001535641745665236 2.498137 20 43 0.005720824 GO Biological Process bone cell development 325 0.000001403164 0.00005681303100307692 2.803632 29 0.007783145 416 0.026811013322596153 2.685498 11 22 0.003146453 GO Biological Process positive regulation of glial cell differentiation 329 0.0000014891 0.00005955947386018237 2.312817 41 0.01100376 484 0.03664409024173554 2.278604 14 33 0.004004577 GO Biological Process DNA cytosine deamination 331 0.00000156498 0.0000622162290634441 13.06995 7 0.00187869 457 0.032586866975929975 4.47583 5 6 0.001430206 GO Biological Process positive regulation of protein maturation 398 0.000006372586 0.00021069562606532664 3.279833 20 0.005367687 487 0.036554432034907595 2.568737 11 23 0.003146453 GO Biological Process commissural neuron axon guidance 405 0.000007201121 0.00023397420059012344 3.251898 20 0.005367687 407 0.026575247133906632 4.028247 6 8 0.001716247 GO Biological Process oculomotor nerve development 410 0.000007623866 0.0002446889090097561 5.545647 11 0.002952228 466 0.03388527214592275 5.370995 4 4 0.001144165 GO Cellular Component integral component of nuclear inner membrane 56 2.034444e-7 0.000006277712914285714 5.947321 14 0.003757381 61 0.0037232819409836067 3.356872 10 16 0.002860412 GO Cellular Component nuclear membrane part 57 2.274567e-7 0.000006895529431578947 5.891468 14 0.003757381 65 0.007068054350769231 3.159409 10 17 0.002860412 GO Cellular Component A band 86 0.000006843155 0.00013749967255813954 2.404732 33 0.008856683 71 0.012046253070422534 2.197225 18 44 0.005148741 GO Cellular Component M band 95 0.00001418524 0.0002580220496842105 2.689856 25 0.006709608 93 0.04189474683870968 2.252353 13 31 0.003718535 GO Cellular Component PcG protein complex 147 0.0002956724 0.003475659232653061 2.013085 31 0.008319914 97 0.046986885278350515 1.984933 17 46 0.0048627 GO Cellular Component podosome 206 0.002149292 0.01802901250485437 2.043425 21 0.005636071 81 0.022908608 2.407688 13 29 0.003718535 GO Molecular Function phosphotyrosine binding 53 4.260661e-7 0.00003394058630566038 2.499267 39 0.01046699 43 0.00535328293627907 2.608769 17 35 0.0048627 GO Molecular Function voltage-gated calcium channel activity 54 4.447092e-7 0.00003476967115555556 2.318626 45 0.01207729 12 0.000002748907609333333 3.222597 24 40 0.006864989 GO Molecular Function ankyrin binding 65 0.000002140702 0.00013904682836923078 3.188376 23 0.00617284 52 0.012795785903846156 3.109524 11 19 0.003146453 GO Molecular Function protein phosphorylated amino acid binding 94 0.00001281297 0.0005754931844680852 2.131202 40 0.01073537 65 0.03214929587692308 2.197225 18 44 0.005148741 GO Molecular Function natural killer cell lectin-like receptor binding 143 0.0002570588 0.00758952624895105 9.155439 5 0.001341922 55 0.018750608225454546 4.60371 6 7 0.001716247 GO Molecular Function high voltage-gated calcium channel activity 203 0.001672792 0.03479077745812808 2.451044 15 0.004025765 38 0.003768273881578948 4.028247 9 12 0.002574371 Human Phenotype Hypotelorism 72 6.552581e-11 6.0729684740277785e-9 2.67666 58 0.01556629 6 0.05608803306000001 2.544156 18 38 0.005148741 Mouse Phenotype Single KO abnormal platelet aggregation 32 8.468123e-23 2.42320632221875e-20 3.474025 89 0.02388621 348 0.03613354831321839 1.790332 26 78 0.007437071 Mouse Phenotype Single KO abnormal ear position 41 5.034916e-20 1.124505507609756e-17 4.056854 64 0.0171766 243 0.017333330519753085 2.586035 13 27 0.003718535 Mouse Phenotype Single KO abnormal platelet physiology 51 7.928118e-18 1.4234858142352942e-15 2.687749 100 0.02683843 338 0.03436703375147929 1.660126 34 110 0.0097254 Mouse Phenotype Single KO abnormal vertebral body morphology 79 3.923542e-15 4.547832163797469e-13 3.02842 69 0.01851852 234 0.01553211513974359 2.08872 21 54 0.006006865 Mouse Phenotype Single KO decreased platelet aggregation 102 7.998382e-13 7.180508232745099e-11 3.112583 55 0.01476114 276 0.02504880761231884 1.969365 22 60 0.006292906 Mouse Phenotype Single KO abnormal sarcomere morphology 108 3.299435e-12 2.797493175462963e-10 3.343876 47 0.01261406 286 0.026067837030419583 2.173974 17 42 0.0048627 Mouse Phenotype Single KO abnormal vagus ganglion morphology 112 1.101263e-11 9.003808295535715e-10 2.696471 62 0.01663983 269 0.023240932360223048 2.148398 18 45 0.005148741 Mouse Phenotype Single KO kinked neural tube 117 3.142222e-11 2.4592587054700855e-9 2.758511 57 0.01529791 347 0.03583909938040346 2.000959 19 51 0.005434783 Mouse Phenotype Single KO abnormal neural plate morphology 128 1.730451e-10 1.237948422421875e-8 3.094504 44 0.01180891 279 0.025856532283870966 2.578078 12 25 0.003432494 Mouse Phenotype Single KO dilated heart right atrium 134 5.221732e-10 3.568313427164179e-8 4.897652 24 0.006441224 287 0.026225281081881532 4.028247 6 8 0.001716247 Mouse Phenotype Single KO abnormal pharyngeal arch artery morphology 137 6.566176e-10 4.388793695766423e-8 2.315397 68 0.01825013 353 0.039068301589235126 2.075157 17 44 0.0048627 Mouse Phenotype Single KO abnormal central nervous system regeneration 174 2.73234e-8 0.0000014379331827586208 5.963108 16 0.004294149 381 0.04989529129396326 3.580664 6 9 0.001716247 Mouse Phenotype Single KO enhanced behavioral response to addictive substance 194 1.350844e-7 0.000006376122942268041 2.396768 46 0.01234568 364 0.045737705604395607 2.095998 16 41 0.004576659 Mouse Phenotype Single KO abnormal embryonic erythropoiesis 202 1.725041e-7 0.000007819901206435645 2.921018 32 0.008588298 215 0.01146413383395349 2.592894 14 29 0.004004577 Mouse Phenotype Single KO enlarged liver sinusoidal spaces 206 2.01003e-7 0.000008934876072815534 2.744103 35 0.009393451 245 0.017981171081632653 2.322593 16 37 0.004576659 Mouse Phenotype Single KO enlarged myocardial fiber 209 2.110132e-7 0.000009245205131100478 2.610332 38 0.0101986 321 0.03266764028971963 2.237915 15 36 0.004290618 Mouse Phenotype Single KO abnormal brown adipose tissue amount 216 2.640182e-7 0.000011192660450925924 2.290814 48 0.01288245 343 0.035583434580174926 1.841484 24 70 0.006864989 Mouse Phenotype Single KO abnormal liver sinusoid morphology 227 3.384412e-7 0.000013652449640528635 2.293426 47 0.01261406 341 0.03483755139296188 1.871711 23 66 0.006578947 Mouse Phenotype Single KO abnormal embryonic erythrocyte morphology 252 9.567398e-7 0.0000347653426531746 2.646044 33 0.008856683 284 0.025966969198591552 2.301855 15 35 0.004290618 Mouse Phenotype Single KO failure of heart looping 263 0.000001775503 0.00006181855882509505 2.176354 46 0.01234568 364 0.045737705604395607 2.095998 16 41 0.004576659 Mouse Phenotype abnormal platelet activation 19 4.214867e-26 2.1209654414210525e-23 3.52129 101 0.02710682 417 0.02090445929352518 1.718719 32 100 0.009153318 Mouse Phenotype abnormal platelet aggregation 20 1.413122e-25 6.755429721000001e-23 3.517061 99 0.02657005 469 0.027725146810234545 1.714147 30 94 0.008581236 Mouse Phenotype abnormal platelet physiology 29 5.15366e-22 1.6991083882758623e-19 2.79013 118 0.03166935 225 0.0036045892105333334 1.749642 43 132 0.01229977 Mouse Phenotype abnormal ear position 63 1.331676e-15 2.0209768628571428e-13 3.2301 65 0.01744498 507 0.03588290444970414 2.211586 14 34 0.004004577 Mouse Phenotype abnormal immature B cell morphology 79 4.989601e-14 6.038680400126583e-12 2.017305 138 0.03703704 234 0.004142973337179487 1.629403 54 178 0.01544622 Mouse Phenotype abnormal immature B cell number 82 9.248601e-14 1.0783643190365853e-11 2.011729 136 0.03650027 203 0.002482726535320197 1.674487 53 170 0.01516018 Mouse Phenotype abnormal splenic cell ratio 88 1.97251e-13 2.1430872852272726e-11 2.886312 65 0.01744498 555 0.0422581557027027 1.849031 21 61 0.006006865 Mouse Phenotype decreased immature B cell number 90 4.163458e-13 4.4229802153333334e-11 2.141866 111 0.02979066 236 0.004174968649576271 1.736487 43 133 0.01229977 Mouse Phenotype abnormal heart shape 96 6.210671e-13 6.1854401490625e-11 2.924756 61 0.01637144 606 0.04982357006930693 2.181967 13 32 0.003718535 Mouse Phenotype decreased platelet aggregation 111 1.89986e-12 1.6364469783783783e-10 2.937769 58 0.01556629 519 0.03797345501734104 1.790332 24 72 0.006864989 Mouse Phenotype abnormal sarcomere morphology 117 3.255292e-12 2.660157847179487e-10 2.807378 61 0.01637144 395 0.01827465334936709 1.969365 22 60 0.006292906 Mouse Phenotype decreased pre-B cell number 125 7.495282e-12 5.73299129616e-10 2.15174 98 0.02630166 414 0.020817387004347824 1.704258 33 104 0.009439359 Mouse Phenotype abnormal vertebral body morphology 126 9.507397e-12 7.214303390238094e-10 2.402322 77 0.02066559 323 0.008897090672136223 2.014123 24 64 0.006864989 Mouse Phenotype dilated heart right atrium 148 5.696996e-11 3.6803364024324324e-9 4.845334 27 0.007246377 279 0.006679859474193548 4.177441 7 9 0.002002288 Mouse Phenotype abnormal transitional stage T1 B cell morphology 150 6.312852e-11 4.0238118648000005e-9 3.808193 35 0.009393451 500 0.034847282651999996 2.387109 12 27 0.003432494 Mouse Phenotype abnormal vagus ganglion morphology 201 3.937582e-9 1.8729960946268659e-7 2.275005 64 0.0171766 431 0.022841162450116012 2.040978 19 50 0.005434783 Mouse Phenotype enlarged liver sinusoidal spaces 243 8.242362e-8 0.0000032430132955555555 2.633289 40 0.01073537 198 0.0022149220237878786 2.488998 19 41 0.005434783 Mouse Phenotype abnormal interventricular septum thickness 264 2.810134e-7 0.000010177155747727274 2.068821 60 0.01610306 434 0.02336197305069124 1.868172 24 69 0.006864989 Mouse Phenotype abnormal mandibule ramus morphology 282 5.071823e-7 0.000017195638192553194 2.17631 51 0.0136876 540 0.0399216368 2.252353 13 31 0.003718535 Mouse Phenotype impaired behavioral response to addictive substance 287 5.883652e-7 0.000019600556366550523 2.294096 45 0.01207729 533 0.03877320942213884 1.973019 18 49 0.005148741