# 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 positive regulation of signal transduction by p53 class mediator 20 9.342499e-17 6.14689721705e-14 7.138756 31 0.01269971 363 0.007420048344077136 3.445637 10 21 0.003853565 GO Biological Process negative regulation of transporter activity 29 9.54113e-16 4.3293699886206903e-13 3.243525 65 0.02662843 452 0.018981758516371683 2.081542 21 73 0.008092486 GO Biological Process outflow tract morphogenesis 84 8.600754e-12 1.3473490700714286e-9 2.29737 84 0.03441213 206 0.00042941068422815533 2.553825 24 68 0.009248555 GO Biological Process regulation of heart morphogenesis 89 1.462825e-11 2.1628442893258427e-9 2.871938 55 0.02253175 316 0.00340312144778481 2.979463 14 34 0.00539499 GO Biological Process autonomic nervous system development 97 3.159296e-11 4.285894439587629e-9 2.668548 60 0.02458009 158 0.00010432571798734177 3.197231 19 43 0.007321773 GO Biological Process artery development 103 5.521942e-11 7.05468298815534e-9 2.334031 75 0.03072511 347 0.006131650310374639 2.189793 23 76 0.008863198 GO Biological Process artery morphogenesis 105 6.306943e-11 7.904101232095238e-9 2.485768 66 0.0270381 442 0.017170934973755655 2.245605 18 58 0.006936416 GO Biological Process regulation of cell communication by electrical coupling involved in cardiac conduction 112 1.137579e-10 1.3365537554464287e-8 5.539255 23 0.009422368 413 0.012735487302905569 4.823892 6 9 0.002312139 GO Biological Process noradrenergic neuron differentiation 115 1.363079e-10 1.559717961826087e-8 4.823504 26 0.01065137 474 0.022955836633755278 5.168456 5 7 0.001926782 GO Biological Process regulation of DNA binding 118 1.505438e-10 1.6788185289830508e-8 2.281171 75 0.03072511 321 0.003540783136168224 2.002777 31 112 0.01194605 GO Biological Process cardiac septum morphogenesis 123 2.067223e-10 2.211592476178862e-8 2.20987 79 0.03236379 223 0.0005843549584932736 2.560373 23 65 0.008863198 GO Biological Process myoblast differentiation 136 8.591668e-10 8.313070530294118e-8 2.971652 43 0.01761573 393 0.011073191352926209 2.665835 14 38 0.00539499 GO Biological Process positive regulation of phosphoprotein phosphatase activity 145 1.384744e-9 1.2566790548965517e-7 4.033555 28 0.01147071 317 0.003430350386561514 4.070159 9 16 0.003468208 GO Biological Process stem cell development 158 3.223228e-9 2.6844593197468357e-7 2.202295 69 0.0282671 430 0.014987039099302327 2.217434 19 62 0.007321773 GO Biological Process regulation of cell communication by electrical coupling 169 5.663963e-9 4.410182787988166e-7 4.018326 26 0.01065137 410 0.012818358423170733 4.220906 7 12 0.002697495 GO Biological Process establishment of protein localization to endoplasmic reticulum 176 6.782232e-9 5.070874482272728e-7 2.939563 39 0.01597706 573 0.04335208436649214 1.791731 26 105 0.01001927 GO Biological Process positive regulation of endothelial cell migration 185 9.717263e-9 6.911862909027027e-7 2.183028 66 0.0270381 288 0.0019874403227777776 2.315468 24 75 0.009248555 GO Biological Process palate development 187 1.073474e-8 7.553927468449198e-7 2.016097 79 0.03236379 525 0.03248726504190476 1.88761 24 92 0.009248555 GO Biological Process positive regulation of DNA binding 189 1.336122e-8 9.302661057142857e-7 2.595693 46 0.01884474 493 0.026833363026369166 2.270067 16 51 0.006165703 GO Biological Process protein localization to endoplasmic reticulum 190 1.39864e-8 9.686686189473685e-7 2.694325 43 0.01761573 528 0.03293009843181818 1.750606 30 124 0.01156069 GO Cellular Component heterotrimeric G-protein complex 85 0.0006909974 0.014047570672941176 2.357792 19 0.007783695 44 0.03551855301818182 2.542322 13 37 0.005009634 GO Molecular Function repressing transcription factor binding 48 6.01185e-7 0.000052879230625 2.339695 43 0.01761573 27 0.004507053802962963 2.532543 21 60 0.008092486 GO Molecular Function platelet-derived growth factor binding 126 0.0003497109 0.011718090633333334 3.350068 12 0.004916018 24 0.002587391129166667 5.262428 8 11 0.003082852 Human Phenotype Ganglioneuroma 24 1.22453e-9 3.404703620833333e-7 6.416695 18 0.007374027 11 0.025958977016363637 6.202147 6 7 0.002312139 Human Phenotype Ganglioneuroblastoma 24 1.22453e-9 3.404703620833333e-7 6.416695 18 0.007374027 11 0.025958977016363637 6.202147 6 7 0.002312139 Human Phenotype Abnormality of the synovia 37 3.191358e-8 0.00000575565727945946 2.141692 64 0.02621876 30 0.04909755396333333 1.849763 34 133 0.01310212 Human Phenotype Abnormality of the hip joint 38 3.537785e-8 0.000006212536659210526 2.165739 62 0.02539943 31 0.04926727561935484 1.86549 33 128 0.01271676 Human Phenotype Abnormality of the sclera 110 0.00006501723 0.003944181598090909 2.230385 30 0.01229005 3 0.03806970967666667 2.67994 20 54 0.007707129 Human Phenotype Blue sclerae 133 0.0001382633 0.006937075194736842 2.200964 28 0.01147071 6 0.020805869038333334 2.831415 18 46 0.006936416 Mouse Phenotype Single KO abnormal sympathetic ganglion morphology 9 1.140548e-14 1.1604442262222223e-11 3.462973 55 0.02253175 252 0.028704971157142854 2.315468 16 50 0.006165703 Mouse Phenotype Single KO abnormal pharyngeal arch artery morphology 21 6.192247e-14 2.700114560904762e-11 3.118479 60 0.02458009 130 0.002716692420538462 2.795665 17 44 0.00655106 Mouse Phenotype Single KO abnormal sympathetic system morphology 25 3.40871e-13 1.2485422988e-10 3.060488 58 0.02376075 211 0.015520134202843603 2.325805 18 56 0.006936416 Mouse Phenotype Single KO abnormal artery development 26 3.601831e-13 1.2685371718076923e-10 2.232423 101 0.04137649 60 0.000089863638835 2.288257 37 117 0.01425819 Mouse Phenotype Single KO increased pulmonary respiratory rate 28 1.221084e-12 3.993380781428571e-10 5.129787 30 0.01229005 248 0.028318613274193546 3.014933 10 24 0.003853565 Mouse Phenotype Single KO abnormal parasympathetic system morphology 40 2.388222e-11 5.4672372135e-9 4.851519 28 0.01147071 215 0.017010149676744187 4.220906 7 12 0.002697495 Mouse Phenotype Single KO dilated dorsal aorta 42 4.646518e-11 1.0130515553809523e-8 4.155566 32 0.01310938 311 0.04649388724115756 3.215928 8 18 0.003082852 Mouse Phenotype Single KO abnormal autonomic nervous system morphology 50 1.3456e-10 2.46433184e-8 2.349685 71 0.02908644 87 0.0003894027932873564 2.473008 27 79 0.01040462 Mouse Phenotype Single KO abnormal capillary morphology 71 1.892002e-9 2.4401496216901407e-7 2.455166 57 0.02335109 298 0.0426387715671141 1.97341 21 77 0.008092486 Mouse Phenotype Single KO palatal shelf hypoplasia 96 4.256596e-8 0.000004060171830416667 4.013328 23 0.009422368 320 0.049043604296875 3.946821 6 11 0.002312139 Mouse Phenotype Single KO abnormal adrenal chromaffin cell morphology 98 5.081106e-8 0.00000474772322877551 5.320151 17 0.006964359 320 0.049043604296875 3.946821 6 11 0.002312139 Mouse Phenotype Single KO abnormal gluconeogenesis 99 5.28188e-8 0.0000048854722383838384 2.802942 37 0.01515772 198 0.01126802148181818 2.460185 17 50 0.00655106 Mouse Phenotype Single KO increased nervous system tumor incidence 118 1.441092e-7 0.000011183118172881356 3.305923 27 0.01106104 305 0.04474413431803278 2.653141 11 30 0.004238921 Mouse Phenotype Single KO abnormal enteric ganglia morphology 124 2.010156e-7 0.000014844353622580646 4.131086 20 0.008193363 188 0.009206340643617021 4.604624 7 11 0.002697495 Mouse Phenotype Single KO abnormal conotruncal ridge morphology 134 3.353763e-7 0.000022918214769402986 3.342785 25 0.0102417 294 0.041823756551020407 3.617919 7 14 0.002697495 Mouse Phenotype Single KO increased lung tumor incidence 136 3.533289e-7 0.00002378994659779412 2.309611 46 0.01884474 160 0.0057381596493750004 2.100727 27 93 0.01040462 Mouse Phenotype Single KO abnormal major salivary gland morphology 186 0.000004465138 0.00021982402508602148 2.493614 32 0.01310938 209 0.015426981916267943 2.766644 13 34 0.005009634 Mouse Phenotype Single KO abnormal peripheral nervous system regeneration 189 0.000005263218 0.0002550015197142857 3.450744 19 0.007783695 320 0.049043604296875 3.946821 6 11 0.002312139 Mouse Phenotype Single KO abnormal nervous system regeneration 205 0.00001062011 0.00047438218180487804 2.963457 22 0.0090127 245 0.026895417142857144 3.256127 9 20 0.003468208 Mouse Phenotype Single KO abnormal pterygoid process morphology 279 0.00005836171 0.0019154773421863802 2.319992 28 0.01147071 111 0.0014262703963063064 3.979711 11 20 0.004238921 Mouse Phenotype abnormal superior cervical ganglion morphology 1 3.157672e-21 3.0190501992000003e-17 3.950264 70 0.02867677 233 0.0034403120611158798 2.499653 19 55 0.007321773 Mouse Phenotype abnormal sympathetic ganglion morphology 2 6.025614e-21 2.8805447727e-17 3.468177 81 0.03318312 134 0.0002632512183358209 2.631214 24 66 0.009248555 Mouse Phenotype abnormal paravertebral ganglion morphology 3 3.016961e-20 9.615054706999999e-17 3.69798 72 0.02949611 195 0.0014132109196923078 2.532543 21 60 0.008092486 Mouse Phenotype abnormal sympathetic system morphology 8 3.006189e-17 3.592771628625e-14 2.871457 86 0.03523146 122 0.0001651301469590164 2.537242 27 77 0.01040462 Mouse Phenotype abnormal pterygopalatine ganglion morphology 9 6.706921e-17 7.124985742333334e-14 8.758591 27 0.01106104 479 0.03232246750521921 5.788671 4 5 0.001541426 Mouse Phenotype abnormal autonomic nervous system morphology 26 6.538558e-13 2.404428963e-10 2.151834 107 0.04383449 80 0.00001393019773125 2.390973 38 115 0.01464355 Mouse Phenotype abnormal stellate ganglion morphology 29 2.43242e-12 8.019437110344826e-10 5.165747 29 0.01188038 512 0.036477455859375 4.522399 5 8 0.001926782 Mouse Phenotype abnormal pharyngeal arch artery morphology 30 3.474713e-12 1.1073910331e-9 2.518425 73 0.02990578 165 0.0008456478512727273 2.567555 22 62 0.008477842 Mouse Phenotype abnormal thymus development 36 2.416205e-11 6.417037779166667e-9 3.849654 36 0.01474805 411 0.02505449581751825 2.744628 11 29 0.004238921 Mouse Phenotype abnormal parasympathetic system morphology 41 5.554676e-11 1.2953233472195121e-8 4.015728 33 0.01351905 341 0.016838062151612904 3.617919 8 16 0.003082852 Mouse Phenotype absent nephrogenic zone 64 1.603446e-9 2.3953980009375003e-7 6.76787 17 0.006964359 313 0.011120845076357827 7.235838 4 4 0.001541426 Mouse Phenotype abnormal enteric ganglia morphology 70 4.112603e-9 5.617228183285714e-7 4.083367 26 0.01065137 341 0.016838062151612904 3.617919 8 16 0.003082852 Mouse Phenotype abnormal adrenal chromaffin cell morphology 105 5.664474e-8 0.000005157908182285715 4.971055 18 0.007374027 538 0.03943279839033457 3.376724 7 15 0.002697495 Mouse Phenotype dermatitis 125 1.606984e-7 0.000012291499219199999 2.377338 46 0.01884474 436 0.027470573098623854 1.864907 25 97 0.009633911 Mouse Phenotype abnormal major salivary gland morphology 128 1.744032e-7 0.000013027101525 2.626775 38 0.01556739 201 0.0018696178746268654 2.894335 16 40 0.006165703 Mouse Phenotype abnormal gluconeogenesis 132 2.629237e-7 0.00001904404163409091 2.477265 41 0.01679639 317 0.012502805088643534 2.192678 20 66 0.007707129 Mouse Phenotype abnormal conotruncus morphology 134 3.09384e-7 0.00002207477928358209 2.493963 40 0.01638673 444 0.029108313763513513 2.553825 12 34 0.004624277 Mouse Phenotype abnormal pterygoid process morphology 146 4.854768e-7 0.00003179208003287671 2.553922 37 0.01515772 115 0.00011643468939130435 3.742675 15 29 0.005780347 Mouse Phenotype ectopic ureteric bud 163 0.000001011342 0.000059321723079754604 3.57314 21 0.008603032 601 0.048176685863560734 3.617919 6 12 0.002312139 Mouse Phenotype delayed hair appearance 235 0.00001215636 0.0004945827998297873 2.854637 23 0.009422368 329 0.015366206713677813 2.947934 11 27 0.004238921