# 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 anterior/posterior pattern specification 71 3.362387e-19 6.231781765211268e-17 2.301479 143 0.05773113 99 1.6411107284848484e-12 2.486127 73 196 0.02595094 GO Biological Process mammary gland epithelial cell differentiation 77 2.049309e-17 3.5021892377922074e-15 5.530036 40 0.01614857 694 0.03250377286023055 3.141214 8 17 0.002843939 GO Biological Process mammary gland epithelium development 86 9.710546e-16 1.4858264513255815e-13 3.078812 70 0.02825999 321 0.00016358461222741434 2.719477 22 54 0.007820832 GO Biological Process negative regulation of retinoic acid receptor signaling pathway 95 3.200346e-13 4.432984527789473e-11 6.706382 25 0.01009285 585 0.014109313737777776 4.450053 6 9 0.002132954 GO Biological Process mammary gland development 100 9.115552e-13 1.1995154876800003e-10 2.19685 101 0.04077513 209 0.00000257029584138756 2.336278 42 120 0.01493068 GO Biological Process ureteric bud development 101 2.215039e-12 2.8859107129702974e-10 2.224351 95 0.03835285 113 4.7765399939823005e-11 3.219744 41 85 0.01457519 GO Biological Process mesonephric tubule development 102 2.43957e-12 3.1472844735294116e-10 2.220372 95 0.03835285 115 7.67782794973913e-11 3.182306 41 86 0.01457519 GO Biological Process mesonephros development 103 2.471532e-12 3.15756209592233e-10 2.198471 97 0.03916027 116 9.907092334568966e-11 3.115037 42 90 0.01493068 GO Biological Process positive regulation of epithelial to mesenchymal transition 115 2.021802e-11 2.3134689146086957e-9 2.755274 58 0.02341542 407 0.0009006772928501229 2.730715 18 44 0.006398862 GO Biological Process lymph vessel development 124 5.155925e-11 5.471517506048387e-9 4.258232 31 0.01251514 787 0.048818034029224903 2.730715 9 22 0.003199431 GO Biological Process segmentation 126 7.321203e-11 7.646008752142857e-9 2.261673 79 0.03189342 167 1.347069494790419e-7 2.7442 37 90 0.01315322 GO Biological Process regulation of fat cell differentiation 130 1.52047e-10 1.5390665176923075e-8 2.119539 88 0.03552685 251 0.00001662250122629482 2.263723 39 115 0.0138642 GO Biological Process mesoderm development 141 5.209105e-10 4.861461893262411e-8 2.036788 91 0.03673799 214 0.000003292635756401869 2.31697 42 121 0.01493068 GO Biological Process response to laminar fluid shear stress 145 5.803148e-10 5.266456864275863e-8 4.865016 24 0.00968914 539 0.0078771678270872 3.814331 8 14 0.002843939 GO Biological Process glossopharyngeal nerve development 149 9.781192e-10 8.63830238442953e-8 7.585844 16 0.006459427 451 0.0021950810920620843 6.67508 5 5 0.001777462 GO Biological Process artery development 151 1.336993e-9 1.165131846821192e-7 2.208105 72 0.02906742 310 0.00009524861990645162 2.45924 28 76 0.009953786 GO Biological Process regulation of epithelial to mesenchymal transition 152 1.34929e-9 1.168112309868421e-7 2.207608 72 0.02906742 485 0.003882227870309278 2.112367 25 79 0.008887309 GO Biological Process glossopharyngeal nerve morphogenesis 153 2.023439e-9 1.7402897909150325e-7 9.706048 13 0.005248284 564 0.011730863529255318 6.67508 4 4 0.001421969 GO Biological Process cranial nerve morphogenesis 159 7.078452e-9 5.858198104905661e-7 3.291017 33 0.01332257 207 0.0000023914378331400967 4.052727 17 28 0.00604337 GO Biological Process artery morphogenesis 164 9.812064e-9 7.872984766829268e-7 2.264061 61 0.02462656 326 0.00016935382736809815 2.647014 23 58 0.008176324 GO Cellular Component transcriptional repressor complex 20 3.0436e-10 2.6296704000000005e-8 2.560794 58 0.02341542 17 0.0015996035011764708 2.251834 28 83 0.009953786 GO Cellular Component cleavage furrow 48 0.00008468986 0.00304883496 2.399475 25 0.01009285 38 0.015862053221052632 2.310605 18 52 0.006398862 GO Cellular Component cell division site part 65 0.000529257 0.014070093784615384 2.082016 26 0.01049657 50 0.037106173439999994 2.079123 19 61 0.006754355 GO Molecular Function transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding 24 2.139209e-14 3.763225165833334e-12 2.218642 113 0.0456197 22 6.5031350854545455e-9 2.559617 51 133 0.01813011 GO Molecular Function DEAD/H-box RNA helicase binding 64 0.00002444721 0.0016127518846874998 4.473811 12 0.00484457 44 0.022991332795454546 5.00631 6 8 0.002132954 GO Molecular Function HMG box domain binding 97 0.0004137927 0.018010647210309278 2.463075 19 0.007670569 51 0.04162926769411765 3.33754 9 18 0.003199431 Human Phenotype Short metatarsal 23 0.000005856755 0.0016992228745652174 2.229674 39 0.01574485 70 0.038386346704285715 2.595864 14 36 0.004976893 Human Phenotype Aplasia/Hypoplasia of metatarsal bones 40 0.00003096956 0.005166496847 2.043806 40 0.01614857 69 0.0387780022057971 2.503155 15 40 0.005332385 Human Phenotype Abnormality of the plantar skin of foot 53 0.00006096597 0.007675960713396227 2.275013 29 0.01170771 92 0.042654570339130435 2.225027 18 54 0.006398862 Human Phenotype Broad thumb 73 0.0001371723 0.012539051478082189 2.02537 34 0.01372628 13 0.01749127273307692 2.886521 16 37 0.005687878 Human Phenotype Abnormality of the upper arm 98 0.0002233918 0.01521115797346939 2.135637 28 0.011304 47 0.02814015458297872 2.748562 14 34 0.004976893 Human Phenotype Abnormality of the humerus 109 0.0002858219 0.017498069162385322 2.135669 27 0.01090028 55 0.03261587688727272 2.799227 13 31 0.004621401 Mouse Phenotype Single KO abnormal fourth pharyngeal arch morphology 7 8.427055e-14 1.1023791805000002e-10 4.266974 40 0.01614857 226 0.00039503857144247787 3.814331 12 21 0.004265908 Mouse Phenotype Single KO abnormal fourth pharyngeal arch artery morphology 11 1.15903e-12 9.64839791818182e-10 4.412326 35 0.01413 370 0.003893853383783784 3.754732 9 16 0.003199431 Mouse Phenotype Single KO abnormal KLRG1-positive NK cell number 15 6.194351e-12 3.781444807133334e-9 5.352892 27 0.01090028 362 0.0035564599107734806 3.5132 10 19 0.003554924 Mouse Phenotype Single KO abnormal pharyngeal arch artery morphology 26 6.735299e-10 2.3721204978076925e-7 2.663402 52 0.02099314 167 0.00007654160836526945 3.034127 20 44 0.007109847 Mouse Phenotype Single KO abnormal third pharyngeal arch artery morphology 29 9.973814e-10 3.1493177516551723e-7 5.170193 22 0.008881712 313 0.0020636288338977634 4.450053 8 12 0.002843939 Mouse Phenotype Single KO vertebral transformation 30 1.014183e-9 3.095624577e-7 2.723839 49 0.01978199 208 0.00025518221323557694 2.249212 31 92 0.01102026 Mouse Phenotype Single KO abnormal major salivary gland morphology 32 1.321107e-9 3.7804302496875e-7 3.071716 40 0.01614857 170 0.00008921832080588236 3.33754 17 34 0.00604337 Mouse Phenotype Single KO thin ventricular wall 34 2.369842e-9 6.382542115882353e-7 2.318608 63 0.02543399 415 0.006162078482409638 1.946898 28 96 0.009953786 Mouse Phenotype Single KO abnormal heart ventricle wall thickness 35 2.508642e-9 6.563324226857143e-7 2.134825 75 0.03027856 541 0.016569967258595195 1.706411 34 133 0.01208674 Mouse Phenotype Single KO abnormal pancreas development 36 3.15599e-9 8.027611230555555e-7 3.025799 39 0.01574485 440 0.007541665658409091 2.860749 12 28 0.004265908 Mouse Phenotype Single KO abnormal sublingual gland morphology 37 5.266903e-9 0.0000013034873181351353 8.032375 14 0.005651998 694 0.03734898840201729 4.171925 5 8 0.001777462 Mouse Phenotype Single KO abnormal cervical atlas morphology 40 7.040933e-9 0.000001611845587025 2.935607 39 0.01574485 481 0.009922058783160083 2.373362 16 45 0.005687878 Mouse Phenotype Single KO hydroureter 41 8.018747e-9 0.000001790918689731707 2.970811 38 0.01534114 318 0.0022152317805345916 3.708378 10 18 0.003554924 Mouse Phenotype Single KO abnormal sublingual duct morphology 43 9.187226e-9 0.0000019564518251627907 11.07782 11 0.004440856 727 0.042311209548830817 6.67508 3 3 0.001066477 Mouse Phenotype Single KO increased KLRG1-positive NK cell number 50 1.432001e-8 0.0000026225666313999997 6.768246 15 0.006055713 588 0.02131948936054422 4.005048 6 10 0.002132954 Mouse Phenotype Single KO decreased submandibular gland size 53 1.645616e-8 0.000002843189756981132 4.83972 20 0.008074283 564 0.019665550469858153 4.767914 5 7 0.001777462 Mouse Phenotype Single KO absent parathyroid glands 62 3.163088e-8 0.000004671676905806452 5.893853 16 0.006459427 501 0.011464479923752494 4.450053 6 9 0.002132954 Mouse Phenotype Single KO submandibular gland hypoplasia 64 3.66359e-8 0.0000052417958796875 4.843738 19 0.007670569 643 0.03151571668118196 5.340064 4 5 0.001421969 Mouse Phenotype Single KO abnormal salivary gland morphology 67 4.591385e-8 0.000006275121260447761 2.431261 48 0.01937828 221 0.0003409234797466064 2.558781 23 60 0.008176324 Mouse Phenotype Single KO abnormal cervical vertebrae morphology 68 4.607686e-8 0.000006204791279705882 2.053064 69 0.02785628 308 0.0019514551080194807 1.907166 36 126 0.01279772 Mouse Phenotype absent cervical atlas 2 8.743911e-19 4.1800266535499995e-15 140.0412 10 0.004037142 1106 0.02903921208499096 6.67508 3 3 0.001066477 Mouse Phenotype abnormal third pharyngeal arch artery morphology 12 3.319213e-14 2.6445829577499995e-11 4.869878 36 0.01453371 272 0.000040705535691176474 4.132192 13 21 0.004621401 Mouse Phenotype abnormal third pharyngeal arch morphology 14 1.227859e-13 8.385399927857144e-11 4.215435 40 0.01614857 301 0.00007044169983388705 3.575936 15 28 0.005332385 Mouse Phenotype abnormal fourth pharyngeal arch morphology 22 2.923841e-12 1.2706747182272728e-9 3.40261 46 0.01857085 218 0.000012963264306880733 3.660528 17 31 0.00604337 Mouse Phenotype abnormal fourth pharyngeal arch artery morphology 24 3.770535e-12 1.502086880625e-9 3.554469 43 0.01735971 273 0.00004186712869230769 3.708378 15 27 0.005332385 Mouse Phenotype abnormal endocrine pancreas development 25 4.328292e-12 1.65531199248e-9 3.362368 46 0.01857085 362 0.00021242761858011048 3.461153 14 27 0.004976893 Mouse Phenotype abnormal KLRG1-positive NK cell number 26 6.194351e-12 2.277853458115385e-9 5.352892 27 0.01090028 562 0.002391884896975089 3.5132 10 19 0.003554924 Mouse Phenotype abnormal pancreas development 30 1.863418e-11 5.938713166e-9 2.583317 65 0.02624142 149 6.516700598657718e-7 3.272098 25 51 0.008887309 Mouse Phenotype abnormal occipital bone morphology 32 3.973562e-11 1.1872258213125e-8 2.321127 77 0.03108599 250 0.000029953633953599996 2.368577 33 93 0.01173125 Mouse Phenotype abnormal thyroid cartilage morphology 34 6.046999e-11 1.700451689382353e-8 3.564092 38 0.01534114 332 0.00012937311639759033 3.594274 14 26 0.004976893 Mouse Phenotype abnormal ureter development 36 1.043627e-10 2.7716993741666668e-8 3.362031 40 0.01614857 408 0.0003838713379411765 3.471042 13 25 0.004621401 Mouse Phenotype abnormal choroid plexus morphology 37 1.301562e-10 3.363306562702702e-8 2.674807 56 0.02260799 922 0.01706573169956616 2.013119 19 63 0.006754355 Mouse Phenotype abnormal pharyngeal pouch morphology 42 2.279579e-10 5.1892987664285714e-8 4.38374 28 0.011304 627 0.0037128793980861245 3.33754 10 20 0.003554924 Mouse Phenotype abnormal cervical atlas morphology 51 1.166805e-9 2.1874161970588235e-7 2.986369 42 0.016956 719 0.006050933499721836 2.267008 18 53 0.006398862 Mouse Phenotype persistent ultimobranchial bodies 54 1.50684e-9 2.667943933333333e-7 11.34911 12 0.00484457 729 0.0065941980925925915 6.67508 4 4 0.001421969 Mouse Phenotype abnormal pancreatic beta cell differentiation 56 2.256581e-9 3.8527090966071426e-7 3.453715 33 0.01332257 732 0.006568148382786885 3.33754 9 18 0.003199431 Mouse Phenotype abnormal intervertebral disk morphology 59 3.035519e-9 4.919084264237288e-7 2.191441 70 0.02825999 210 0.000010948187278571427 2.600681 30 77 0.01066477 Mouse Phenotype abnormal parathyroid gland morphology 60 3.345759e-9 5.3314669665e-7 3.563464 31 0.01251514 454 0.0007872523188105727 3.115037 14 30 0.004976893 Mouse Phenotype abnormal cricoid cartilage morphology 63 4.420917e-9 6.709267847142858e-7 3.819262 28 0.011304 458 0.0008246692333624455 3.926518 10 17 0.003554924 Mouse Phenotype abnormal laryngeal cartilage morphology 65 6.184681e-9 9.097190006307692e-7 2.699675 45 0.01816714 237 0.000019190875507594937 3.432898 18 35 0.006398862