# 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 liver regeneration 30 3.099273e-36 1.3594444469e-33 4.21131 116 0.01207579 305 0.0010080285844590166 1.974697 25 35 0.003680801 GO Biological Process regulation of transcription from RNA polymerase II promoter in response to stress 32 5.055013e-36 2.07871612709375e-33 2.879474 191 0.01988341 291 0.0007450318304467355 1.541312 63 113 0.009275618 GO Biological Process regulation of DNA-templated transcription in response to stress 42 5.060778e-32 1.5855899452857145e-29 2.625539 197 0.02050802 314 0.0012309603313057325 1.510063 65 119 0.009570082 GO Biological Process cellular response to epidermal growth factor stimulus 57 2.132603e-27 4.923319802982457e-25 3.081947 129 0.01342911 399 0.006429678683709274 1.8188 25 38 0.003680801 GO Biological Process response to epidermal growth factor 66 6.070404e-26 1.2103097914545453e-23 2.922292 132 0.01374141 396 0.006458011858585858 1.777227 27 42 0.003975265 GO Biological Process regulation of stem cell differentiation 67 1.713265e-25 3.364903602238806e-23 2.102241 243 0.02529669 342 0.0020213651482163743 1.450912 74 141 0.01089517 GO Biological Process regulation of hematopoietic progenitor cell differentiation 71 6.775242e-25 1.2557099926478872e-22 2.708456 143 0.01488653 595 0.028452102292436974 1.394521 57 113 0.008392226 GO Biological Process regulation of transcription from RNA polymerase II promoter in response to hypoxia 82 4.081484e-23 6.5497863360975615e-21 2.772261 127 0.0132209 407 0.006717446411302212 1.559504 44 78 0.00647821 GO Biological Process animal organ regeneration 90 1.941274e-21 2.838358285111111e-19 2.211591 180 0.01873829 298 0.0008448342946308724 1.638267 48 81 0.007067138 GO Biological Process negative regulation of Notch signaling pathway 103 1.328514e-19 1.6972733714563104e-17 3.178513 86 0.008952738 365 0.003327008356547945 1.926826 23 33 0.003386337 GO Biological Process negative regulation of gene expression, epigenetic 110 3.818172e-19 4.5675750316363636e-17 2.460707 128 0.01332501 471 0.012969890362632696 1.430789 59 114 0.00868669 GO Biological Process regulation of receptor catabolic process 123 2.29056e-18 2.450526751219512e-16 5.094535 46 0.004788674 631 0.03723498584627575 2.457401 8 9 0.001177856 GO Biological Process response to cadmium ion 134 1.443187e-17 1.4172311741044775e-15 2.831352 91 0.009473246 685 0.04596943928759124 1.525283 32 58 0.004711425 GO Biological Process NIK/NF-kappaB signaling 287 6.514183e-12 2.9867642542508713e-10 2.138255 101 0.01051426 573 0.026152283867364748 1.463599 45 85 0.006625442 GO Biological Process protein refolding 367 1.022889e-10 3.667628433514986e-9 4.904927 26 0.002706642 409 0.007032729420537898 2.106344 16 21 0.002355713 GO Biological Process cholesterol efflux 390 2.419012e-10 8.161994591794872e-9 3.115781 43 0.004476369 495 0.015501621006060607 1.958241 17 24 0.002502945 GO Biological Process positive regulation of endoplasmic reticulum unfolded protein response 422 4.820755e-10 1.5032302143364928e-8 2.766791 50 0.00520508 478 0.013274358731380755 2.339257 11 13 0.001619552 GO Biological Process nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway 424 5.638625e-10 1.7499685465801887e-8 2.366175 66 0.006870706 672 0.04390200747767857 1.750898 19 30 0.002797409 GO Biological Process regulation of collagen metabolic process 497 3.845788e-9 1.0182439495372234e-7 2.150217 73 0.007599417 650 0.04062120541692308 1.689463 22 36 0.003239105 GO Biological Process macrophage differentiation 729 2.046196e-7 0.0000036935381569272976 2.419601 44 0.004580471 563 0.025360945696269985 1.974697 15 21 0.002208481 GO Cellular Component PcG protein complex 34 6.860069e-19 3.486529185882353e-17 2.69516 107 0.01113887 57 0.005698122442105263 1.742885 29 46 0.004269729 GO Cellular Component fibrinogen complex 119 8.47516e-7 0.000012306786957983193 2.94731 28 0.002914845 50 0.003651295104 2.764576 9 9 0.001325088 GO Molecular Function peptidyl-proline dioxygenase activity 315 0.0003017819 0.004044835497777778 2.249052 24 0.002498438 71 0.028673350264788733 2.339257 11 13 0.001619552 Human Phenotype Elevated hepatic transaminases 15 2.784169e-16 1.2385839824666667e-13 2.123948 146 0.01519883 135 0.01167741882148148 1.474441 56 105 0.008244994 Human Phenotype Dyspnea 20 4.002294e-15 1.3353653931e-12 2.003487 155 0.01613575 111 0.009170553607207208 1.510542 53 97 0.007803298 Human Phenotype Abnormality of coagulation 72 1.083737e-10 1.0044134723611112e-8 2.218334 82 0.008536331 231 0.04051464285714286 1.540911 34 61 0.005005889 Human Phenotype Respiratory distress 79 1.832956e-10 1.5482677706329115e-8 2.008736 101 0.01051426 134 0.011448188840298506 1.631553 36 61 0.005300353 Human Phenotype Abnormality of the coagulation cascade 85 2.332985e-10 1.8315304594117647e-8 2.24475 77 0.008015823 158 0.020339802363291137 1.648113 31 52 0.004564193 Human Phenotype Atherosclerosis 131 3.298095e-8 0.000001680014346183206 2.30563 55 0.005725588 186 0.023870006238172044 1.788843 22 34 0.003239105 Human Phenotype Ovarian neoplasm 188 4.589841e-7 0.000016291494145212765 2.117544 55 0.005725588 160 0.02011035337 2.339257 11 13 0.001619552 Human Phenotype Arterial calcification 435 0.0000973486 0.0014933499029885057 2.616516 21 0.002186134 191 0.024905187210471205 2.488118 9 10 0.001325088 Human Phenotype Weight loss 573 0.0004101264 0.004776218965445026 2.089127 27 0.002810743 215 0.03533598693953489 2.303813 10 12 0.00147232 Mouse Phenotype Single KO abnormal branching of the mammary ductal tree 53 7.486084e-20 1.2933975695849057e-17 2.512929 128 0.01332501 554 0.031613914402527074 1.673296 23 38 0.003386337 Mouse Phenotype Single KO abnormal cervical atlas morphology 63 4.577834e-19 6.653845386984127e-17 2.46502 127 0.0132209 179 0.0004166931217318436 1.904486 31 45 0.004564193 Mouse Phenotype Single KO embryonic lethality between somite formation and embryo turning, complete penetrance 107 2.525757e-16 2.1615286774766356e-14 2.172791 139 0.01447012 601 0.04004615116638935 1.457006 39 74 0.005742049 Mouse Phenotype Single KO abnormal sixth pharyngeal arch artery morphology 133 5.662752e-15 3.898783463458646e-13 2.709189 82 0.008536331 460 0.016777849549130433 2.114088 13 17 0.001914016 Mouse Phenotype Single KO abnormal osteoblast differentiation 171 8.560842e-14 4.584305859298245e-12 2.141416 119 0.01238809 377 0.008087744153846154 1.720181 28 45 0.004122497 Mouse Phenotype Single KO decreased sensitivity to induced cell death 188 2.058267e-13 1.0025293042021278e-11 2.03635 130 0.01353321 485 0.01990152171340206 1.488618 42 78 0.006183746 Mouse Phenotype Single KO abnormal fourth pharyngeal arch artery morphology 217 1.67095e-12 7.05110099078341e-11 2.503074 77 0.008015823 551 0.030030190382940112 2.073432 12 16 0.001766784 Mouse Phenotype Single KO abnormal cervical axis morphology 248 9.482754e-12 3.5013539668548385e-10 2.171169 96 0.009993754 287 0.0029443890007665504 1.926826 23 33 0.003386337 Mouse Phenotype Single KO abnormal vertebral transverse process morphology 263 2.491385e-11 8.674377355513309e-10 3.61833 39 0.004059963 546 0.02994458074542124 2.457401 8 9 0.001177856 Mouse Phenotype Single KO meteorism 296 8.597896e-11 2.6598288402702706e-9 2.389644 71 0.007391214 570 0.03500325903157895 1.935203 14 20 0.002061249 Mouse Phenotype Single KO scoliosis 349 7.97632e-10 2.092812671633238e-8 2.03269 91 0.009473246 223 0.0009593965469955158 1.974697 25 35 0.003680801 Mouse Phenotype Single KO common ventricle 367 1.829543e-9 4.564884264577657e-8 3.418032 34 0.003539455 602 0.04033285831395349 2.261926 9 11 0.001325088 Mouse Phenotype Single KO prenatal lethality prior to heart atrial septation 389 3.660718e-9 8.61727370848329e-8 2.011006 86 0.008952738 477 0.019542324203354295 1.572948 33 58 0.004858657 Mouse Phenotype Single KO abnormal urine chloride ion level 806 0.00001243655 0.0001412921691687345 2.596986 27 0.002810743 369 0.0073756458588075885 2.246218 13 16 0.001914016 Mouse Phenotype Single KO decreased abdominal fat pad weight 1035 0.0001512835 0.0013384570140096618 2.230317 27 0.002810743 546 0.02994458074542124 2.457401 8 9 0.001177856 Mouse Phenotype Single KO absent Langerhans cell 1098 0.0002561217 0.0021359803341530056 2.963059 15 0.001561524 451 0.016417973101995564 2.764576 7 7 0.001030624 Mouse Phenotype Single KO abnormal Langerhans cell morphology 1150 0.0003592116 0.0028602614097391304 2.180198 25 0.00260254 364 0.007094966867307693 2.513251 10 11 0.00147232 Mouse Phenotype Single KO fusion of vertebral bodies 1176 0.0004134232 0.0032191464646258504 2.623555 17 0.001769727 602 0.04033285831395349 2.261926 9 11 0.001325088 Mouse Phenotype Single KO increased urine chloride ion level 1346 0.001281654 0.008719246417533431 2.739742 13 0.001353321 366 0.007313082931420765 2.764576 8 8 0.001177856 Mouse Phenotype abnormal cervical atlas morphology 90 4.013198e-19 4.263354008666667e-17 2.420202 132 0.01374141 335 0.0008989700282686566 1.773502 34 53 0.005005889 Mouse Phenotype abnormal vitelline vein morphology 121 4.872472e-17 3.8500582472727276e-15 2.851094 87 0.009056839 884 0.046285622986425336 1.769329 16 25 0.002355713 Mouse Phenotype increased body temperature 151 6.446428e-16 4.0817415965562916e-14 2.742414 86 0.008952738 841 0.03938805720927468 1.658746 21 35 0.003091873 Mouse Phenotype absent somites 192 1.983334e-14 9.876383528125e-13 2.332657 104 0.01082657 754 0.027850102488063657 1.579758 28 49 0.004122497 Mouse Phenotype abnormal kidney inner medulla morphology 208 5.631077e-14 2.5884003460096153e-12 3.259857 57 0.005933791 702 0.024317776995726494 2.457401 8 9 0.001177856 Mouse Phenotype abnormal ileum morphology 252 7.512751e-13 2.850373504404762e-11 2.360939 89 0.009265043 712 0.024383168532303368 1.658746 24 40 0.003533569 Mouse Phenotype pup cannibalization 254 9.779894e-13 3.6813215170866144e-11 2.872166 62 0.006454299 537 0.008299530206145251 2.073432 15 20 0.002208481 Mouse Phenotype abnormal hyoid bone body morphology 291 4.489717e-12 1.475126606082474e-10 2.947045 56 0.00582969 702 0.024317776995726494 2.457401 8 9 0.001177856 Mouse Phenotype dry eyes 294 5.25541e-12 1.7090807826530613e-10 2.968968 55 0.005725588 707 0.024436577189533237 2.073432 12 16 0.001766784 Mouse Phenotype bowed fibula 297 5.899415e-12 1.8991349095959597e-10 2.774539 61 0.006350198 409 0.0024697512344743276 2.764576 9 9 0.001325088 Mouse Phenotype increased basal metabolism 399 2.732661e-10 6.548113238345864e-9 2.162198 83 0.008640433 640 0.0180550670953125 1.879912 17 25 0.002502945 Mouse Phenotype increased transitional stage B cell number 457 1.522678e-9 3.185628962363238e-8 2.148654 77 0.008015823 727 0.026388346848693258 1.689463 22 36 0.003239105 Mouse Phenotype abnormal vertebral transverse process morphology 477 2.914521e-9 5.8418732245283016e-8 2.995811 40 0.004164064 791 0.03205007960176991 2.261926 9 11 0.001325088 Mouse Phenotype prenatal lethality prior to heart atrial septation 484 3.660718e-9 7.23143074338843e-8 2.011006 86 0.008952738 622 0.015647836953376206 1.572948 33 58 0.004858657 Mouse Phenotype abnormal lymph organ development 506 8.048189e-9 1.520725988715415e-7 2.053145 78 0.008119925 439 0.003421324356492027 1.974697 20 28 0.002944641 Mouse Phenotype common ventricle 520 1.095171e-8 2.0136403713461538e-7 2.69248 44 0.004580471 520 0.0071185322307692304 2.150226 14 18 0.002061249 Mouse Phenotype abnormal Peyer's patch follicle morphology 565 4.17475e-8 7.06456367256637e-7 2.37465 51 0.005309182 643 0.018328600562986002 1.783597 20 31 0.002944641 Mouse Phenotype impaired fibroblast cell migration 682 3.459275e-7 0.000004849578925953079 2.428574 42 0.004372267 791 0.03205007960176991 2.261926 9 11 0.001325088 Mouse Phenotype decreased creatinine clearance 683 3.476472e-7 0.000004866551799707174 2.949538 30 0.003123048 873 0.045132519793814434 1.951465 12 17 0.001766784 Mouse Phenotype increased follicular B cell number 686 3.630181e-7 0.000005059498621137027 2.004793 64 0.006662503 746 0.02787199394235925 1.72786 20 32 0.002944641