# 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 mitochondrial transport 19 2.884058e-34 1.997437853789474e-31 2.257237 282 0.03469915 181 0.000029246357330939222 1.475336 115 239 0.01877858 GO Biological Process protein-lipid complex subunit organization 35 4.196889e-29 1.5779103528857142e-26 3.88471 101 0.01242771 238 0.00015719321196638655 2.022343 31 47 0.005062051 GO Biological Process liver regeneration 39 2.343627e-28 7.90763787e-26 4.033661 94 0.01156638 595 0.017325559603361344 1.83968 21 35 0.003429131 GO Biological Process platelet-derived growth factor receptor-beta signaling pathway 41 2.025012e-27 6.499300709268293e-25 9.586467 43 0.005291005 648 0.024399710222222225 3.066133 6 6 0.0009797518 GO Biological Process protein-lipid complex assembly 43 4.249597e-27 1.3004755098372094e-24 5.0196 71 0.008736311 228 0.00012844482585526316 2.326032 22 29 0.003592423 GO Biological Process cellular response to insulin stimulus 48 8.355631e-27 2.290661423520833e-24 2.17259 237 0.02916205 390 0.0023615758860769235 1.470915 71 148 0.01159373 GO Biological Process activation of signaling protein activity involved in unfolded protein response 49 8.560522e-27 2.2989369183265305e-24 8.116221 47 0.005783192 753 0.03913705042895087 2.682867 7 8 0.001143044 GO Biological Process plasma lipoprotein particle organization 57 4.069368e-25 9.394528686315789e-23 3.788372 89 0.01095115 264 0.0003033580656628788 2.020861 29 44 0.004735467 GO Biological Process plasma lipoprotein particle assembly 68 5.306236e-23 1.026834698882353e-20 5.069544 59 0.007259751 247 0.0002421740805263158 2.358564 20 26 0.003265839 GO Biological Process high-density lipoprotein particle remodeling 89 7.277122e-22 1.0759511055955056e-19 6.641806 44 0.005414052 357 0.0012926767608963585 2.525051 14 17 0.002286088 GO Biological Process mitochondrial membrane organization 92 1.208994e-21 1.729255657173913e-19 2.280212 170 0.02091793 659 0.025671331995447647 1.409432 57 124 0.009307642 GO Biological Process triglyceride homeostasis 113 1.479309e-20 1.7226749673451326e-18 4.233372 63 0.007751938 423 0.004063844507092199 2.01215 21 32 0.003429131 GO Biological Process plasma lipoprotein particle remodeling 116 1.610569e-20 1.827023919913793e-18 4.056079 66 0.008121078 561 0.013573130853119428 1.971086 18 28 0.002939255 GO Biological Process response to unfolded protein 128 5.697292e-20 5.8570832365625005e-18 2.15648 176 0.02165621 647 0.024323160683153017 1.360597 71 160 0.01159373 GO Biological Process response to topologically incorrect protein 130 5.935881e-20 6.0084813906923074e-18 2.104485 186 0.02288667 502 0.00872454544442231 1.37976 81 180 0.01322665 GO Biological Process regulation of mitochondrial membrane permeability 136 1.381562e-19 1.3367628204411765e-17 2.617389 117 0.01439646 626 0.021465103741214058 1.554068 37 73 0.006041803 GO Biological Process positive regulation of endoplasmic reticulum unfolded protein response 138 2.270772e-19 2.1652962860869565e-17 4.055182 62 0.007628891 453 0.004926709266004414 2.59442 11 13 0.001796212 GO Biological Process cellular carbohydrate metabolic process 141 2.729401e-19 2.5472473587943265e-17 2.011848 200 0.02460933 404 0.0029954724166831683 1.469189 69 144 0.01126715 GO Biological Process regulation of plasma lipoprotein particle levels 150 9.500708e-19 8.334654438133334e-17 2.680599 107 0.01316599 461 0.005353106890021692 1.638071 39 73 0.006368387 GO Biological Process cholesterol efflux 164 3.857237e-18 3.0949622977439026e-16 4.45363 52 0.006398425 340 0.0009856481899705883 2.2996 18 24 0.002939255 GO Cellular Component very-low-density lipoprotein particle 43 8.329288e-20 3.347211549767442e-18 5.310929 48 0.005906238 67 0.017574861277611938 2.146293 14 20 0.002286088 GO Cellular Component high-density lipoprotein particle 48 3.206269e-18 1.15425684e-16 5.163368 45 0.005537099 41 0.0005114134009756098 2.27121 20 27 0.003265839 GO Cellular Component protein-lipid complex 50 3.886551e-17 1.3431920256e-15 3.124854 76 0.009351544 36 0.00030275068800000003 2.044089 28 42 0.004572175 GO Cellular Component plasma lipoprotein particle 51 1.392804e-16 4.719147670588235e-15 3.133215 73 0.008982404 37 0.0003020617790270271 2.06964 27 40 0.004408883 GO Cellular Component peptidase complex 73 3.186103e-12 7.541898608219179e-11 2.270666 91 0.01119724 87 0.04412533406896552 1.463382 42 88 0.006858263 GO Cellular Component Bcl-2 family protein complex 92 1.590721e-10 2.9877890086956524e-9 5.456558 23 0.002830073 64 0.0105735915 3.066133 7 7 0.001143044 GO Cellular Component zonula adherens 142 1.583998e-7 0.0000019275693971830987 4.203634 20 0.002460933 88 0.04397655927272728 2.682867 7 8 0.001143044 GO Cellular Component pore complex 159 6.478163e-7 0.000007040418656603774 2.859404 30 0.003691399 53 0.0035908720301886794 2.38477 14 18 0.002286088 GO Cellular Component fibrinogen complex 202 0.00001207681 0.00010331053306930693 2.861593 23 0.002830073 69 0.020433484800000002 2.725452 8 9 0.001306336 GO Cellular Component spherical high-density lipoprotein particle 214 0.00002232551 0.0001802732770093458 4.521681 12 0.00147656 88 0.04397655927272728 2.682867 7 8 0.001143044 GO Cellular Component platelet dense tubular network 300 0.0007252649 0.004177525824 2.491442 17 0.002091793 52 0.003486100430769231 2.787394 10 11 0.00163292 GO Cellular Component platelet dense tubular network membrane 337 0.00185762 0.009525125697329377 2.425324 15 0.0018457 48 0.0014971381199999998 3.066133 9 9 0.001469628 GO Molecular Function cadherin binding 4 4.881458e-44 5.152378918999999e-41 2.054212 450 0.05537099 7 2.4378955877142856e-7 1.522981 151 304 0.02465709 GO Molecular Function phosphatidylethanolamine binding 59 1.777786e-10 1.2721716088135593e-8 5.424707 23 0.002830073 75 0.045930879050666666 2.725452 8 9 0.001306336 Human Phenotype Cardiomegaly 103 6.089212e-9 3.9449817161165046e-7 2.405575 56 0.006890612 17 0.042242445176470585 1.936505 24 38 0.003919007 Mouse Phenotype Single KO decreased trabecular bone thickness 67 2.139195e-18 2.92367292761194e-16 2.739411 101 0.01242771 275 0.014673260045454545 1.771544 26 45 0.004245591 Mouse Phenotype Single KO abnormal osteoblast differentiation 134 3.7283e-14 2.5477644104477614e-12 2.275884 107 0.01316599 184 0.0021425389347826088 1.907816 28 45 0.004572175 Mouse Phenotype Single KO abnormal vitelline vein morphology 185 3.602751e-12 1.7832643733513514e-10 2.633986 68 0.008367171 190 0.0030424701197894737 2.207616 18 25 0.002939255 Mouse Phenotype Single KO abnormal embryonic hematopoiesis 219 1.909234e-11 7.983039149771689e-10 2.01595 111 0.01365818 308 0.021587606688636362 1.677696 29 53 0.004735467 Mouse Phenotype Single KO persistence of hyaloid vascular system 233 4.24432e-11 1.6680359759656652e-9 2.099495 97 0.01193552 246 0.010019622901219511 1.811806 26 44 0.004245591 Mouse Phenotype Single KO increased hepatocyte apoptosis 282 1.040338e-9 3.378147186524823e-8 2.29485 68 0.008367171 328 0.025202562632621953 1.752076 24 42 0.003919007 Mouse Phenotype Single KO decreased bone mineralization 311 4.13871e-9 1.2185905938906752e-7 2.074612 79 0.009720684 265 0.012831424206792454 1.855817 23 38 0.003755715 Mouse Phenotype Single KO absent hypoglossal nerve 343 1.2855e-8 3.4318727405247814e-7 3.746686 27 0.003322259 232 0.008861888046120689 2.452907 12 15 0.001959504 Mouse Phenotype Single KO abnormal vitamin level 369 2.280246e-8 5.658594206504065e-7 2.102908 69 0.008490218 383 0.04360711633420365 1.619844 28 53 0.004572175 Mouse Phenotype Single KO absent somites 371 2.385917e-8 5.888906191105121e-7 2.234131 60 0.007382798 356 0.033580442367977525 1.788578 21 36 0.003429131 Mouse Phenotype Single KO abnormal infrahyoid muscle connection 404 5.895695e-8 0.0000013363088889851485 4.103957 22 0.002707026 314 0.023794213703184713 2.725452 8 9 0.001306336 Mouse Phenotype Single KO increased hepatocyte proliferation 527 0.000001021461 0.00001774861172106262 2.85388 29 0.003568352 276 0.014719598808695654 2.555111 10 12 0.00163292 Mouse Phenotype Single KO increased circulating glucagon level 624 0.000005746806 0.000084332536125 2.238061 39 0.004798819 178 0.0018041327175280899 2.525051 14 17 0.002286088 Mouse Phenotype Single KO decreased total retina thickness 629 0.000006055096 0.00008815026084578696 2.058366 47 0.005783192 345 0.030695723811594203 1.77513 22 38 0.003592423 Mouse Phenotype Single KO abnormal stapedial artery morphology 659 0.000009438766 0.00013115444652807284 2.584679 28 0.003445306 369 0.037359914791327914 2.164329 12 17 0.001959504 Mouse Phenotype Single KO abnormal hypoglossal nerve topology 796 0.00006360417 0.0007316876692085427 2.449411 25 0.003076166 300 0.020435371666666667 2.21443 13 18 0.002122796 Mouse Phenotype Single KO heterochrony 870 0.0001388251 0.001461174069770115 2.170298 29 0.003568352 369 0.037359914791327914 2.164329 12 17 0.001959504 Mouse Phenotype Single KO excessive folding of visceral yolk sac 875 0.0001436829 0.0015036620746285713 2.420846 23 0.002830073 360 0.03452168651111111 2.358564 10 13 0.00163292 Mouse Phenotype Single KO abnormal inferior vena cava valve morphology 892 0.0001833652 0.001882371229147982 2.495008 21 0.002583979 343 0.030554346107871718 2.508654 9 11 0.001469628 Mouse Phenotype Single KO increased urine uric acid level 1221 0.001855633 0.013916487617526618 2.277581 17 0.002091793 212 0.0055125226386792455 3.066133 8 8 0.001306336 Mouse Phenotype extramedullary hematopoiesis 20 3.128355e-39 1.4955101077500002e-36 2.364409 295 0.03629876 414 0.008010270463768116 1.38414 79 175 0.01290007 Mouse Phenotype decreased interscapular fat pad weight 53 3.526419e-26 6.361526803584906e-24 5.385706 64 0.007874985 708 0.04535755955508475 2.190095 10 14 0.00163292 Mouse Phenotype thick epidermis 86 5.408376e-22 6.012730573953488e-20 2.15785 195 0.02399409 435 0.009174478442068965 1.467551 56 117 0.00914435 Mouse Phenotype increased liver triglyceride level 120 5.427448e-19 4.324319194e-17 2.035557 191 0.02350191 357 0.003468211238655462 1.533067 54 108 0.008817766 Mouse Phenotype dry eyes 128 2.905677e-18 2.170404515390625e-16 3.892109 61 0.007505845 476 0.01265858523340336 2.2996 12 16 0.001959504 Mouse Phenotype abnormal keratinocyte physiology 136 6.07938e-18 4.2738935426470585e-16 2.071723 172 0.02116402 358 0.0035575840039106144 1.5195 56 113 0.00914435 Mouse Phenotype abnormal inguinal fat pad morphology 153 1.013838e-16 6.33549354117647e-15 2.242138 133 0.0163652 463 0.011218792734557234 1.628883 34 64 0.005551927 Mouse Phenotype parakeratosis 162 2.427268e-16 1.432537614074074e-14 3.098716 73 0.008982404 666 0.038922443391891895 1.765349 19 33 0.003102547 Mouse Phenotype abnormal epidermis stratum granulosum morphology 185 1.9571e-15 1.0114504378378379e-13 2.168464 131 0.01611911 685 0.04137128445985402 1.474849 38 79 0.006205095 Mouse Phenotype decreased trabecular bone thickness 191 3.276447e-15 1.6401104590052356e-13 2.111586 137 0.01685739 360 0.0037838533924999997 1.703407 35 63 0.005715219 Mouse Phenotype decreased circulating serum albumin level 194 3.516684e-15 1.733145140412371e-13 2.015641 153 0.01882614 658 0.03779599885714286 1.406483 50 109 0.008164598 Mouse Phenotype increased hepatocyte apoptosis 223 4.194174e-14 1.7982285925560537e-12 2.251819 109 0.01341208 257 0.0004682137027237354 1.777469 40 69 0.006531679 Mouse Phenotype abnormal circulating VLDL cholesterol level 261 1.24302e-12 4.5534537241379315e-11 2.287914 93 0.01144334 699 0.04376801478969957 1.559963 29 57 0.004735467 Mouse Phenotype increased bone ossification 269 2.039003e-12 7.247177577323419e-11 2.266716 93 0.01144334 431 0.009105164351276103 1.873748 22 36 0.003592423 Mouse Phenotype increased follicular B cell number 281 3.576363e-12 1.2168543289323845e-10 2.591791 70 0.008613264 591 0.026722008162436552 1.820517 19 32 0.003102547 Mouse Phenotype abnormal vitelline vein morphology 282 3.602751e-12 1.2214858975531913e-10 2.633986 68 0.008367171 322 0.0018744512716770186 2.207616 18 25 0.002939255 Mouse Phenotype abnormal bile salt homeostasis 286 4.17403e-12 1.3953811479020978e-10 2.421123 79 0.009720684 356 0.003476473598595506 1.826633 28 47 0.004572175 Mouse Phenotype absent somites 325 5.301153e-11 1.5595176564e-9 2.226943 84 0.01033592 345 0.0032193799200000003 1.81465 29 49 0.004735467 Mouse Phenotype early eyelid opening 388 1.041405e-9 2.5662044342783506e-8 2.611977 53 0.006521472 681 0.04076992915418502 2.452907 8 10 0.001306336 Mouse Phenotype increased bone resorption 416 2.416613e-9 5.554143483894231e-8 2.019663 87 0.01070506 455 0.010435638178681319 1.782636 25 43 0.004082299