# 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 glial cell development 132 2.433543e-7 0.000024259842679545453 2.120838 57 0.02099448 334 0.003878110952994012 1.972333 30 86 0.009033424 GO Biological Process mitochondrion localization 295 0.00008369781 0.003733489768779661 2.718474 20 0.007366483 524 0.04385683754198474 2.174623 15 39 0.004516712 GO Biological Process rostrocaudal neural tube patterning 375 0.0002648633 0.009294229772533334 3.090143 14 0.005156538 377 0.008322446199734749 3.769347 8 12 0.002408913 GO Biological Process establishment of mitochondrion localization 377 0.0002671962 0.009326352243501326 3.087403 14 0.005156538 462 0.027525668649134197 2.82701 10 20 0.003011141 GO Biological Process inactivation of MAPK activity 459 0.0006084077 0.01744234624030501 2.323476 20 0.007366483 212 0.0003351802754198113 3.261935 15 26 0.004516712 GO Biological Process mitochondrion transport along microtubule 510 0.001104161 0.028489518821568627 2.929766 12 0.00441989 521 0.04405054810172745 2.82701 9 18 0.002710027 GO Biological Process midbrain-hindbrain boundary development 541 0.001346948 0.03276245606654343 3.239751 10 0.003683241 348 0.005243823686781609 4.397571 7 9 0.002107799 GO Molecular Function MAP kinase phosphatase activity 73 0.0001253515 0.0072497812739726036 3.167344 15 0.005524862 26 0.0001821127223076923 4.442444 11 14 0.003312255 GO Molecular Function MAP kinase tyrosine/serine/threonine phosphatase activity 120 0.001112535 0.03914268975 2.781648 13 0.004788214 31 0.0006834764270967741 4.349246 10 13 0.003011141 Human Phenotype Oligodontia 47 0.0001508526 0.021417859570212767 2.465636 22 0.008103131 12 0.0539723750925 3.27338 11 19 0.003312255 Mouse Phenotype Single KO abnormal pharyngeal arch artery morphology 26 1.947382e-7 0.00006858529605384615 2.289737 49 0.01804788 26 3.2901868779230776e-7 3.341012 26 44 0.007828967 Mouse Phenotype Single KO abnormal fourth pharyngeal arch artery morphology 37 4.777666e-7 0.00011824077719459459 3.105414 27 0.009944751 125 0.0006941012593040001 3.887139 11 16 0.003312255 Mouse Phenotype Single KO abnormal hematopoietic stem cell morphology 38 5.028233e-7 0.00012116718310789475 2.001796 62 0.0228361 224 0.012597293075892857 1.863963 30 91 0.009033424 Mouse Phenotype Single KO curly vibrissae 56 0.000002890738 0.00047268728332142856 3.037971 24 0.008839779 221 0.012439821790950226 2.82701 12 24 0.003613369 Mouse Phenotype Single KO abnormal fourth pharyngeal arch morphology 61 0.000003506208 0.000526333551737705 2.725048 28 0.01031308 163 0.0031014141042944787 3.230868 12 21 0.003613369 Mouse Phenotype Single KO abnormal Schwann cell morphology 95 0.00002527076 0.0024358352559999998 2.280426 32 0.01178637 295 0.02873406381084746 2.29217 15 37 0.004516712 Mouse Phenotype Single KO abnormal ilium morphology 109 0.00003449522 0.002897914949908257 3.115745 18 0.006629834 148 0.0018826482641891892 4.523216 8 10 0.002408913 Mouse Phenotype Single KO persistent right dorsal aorta 164 0.0001460283 0.008153543555487804 2.772021 18 0.006629834 133 0.0010162720883458646 4.038586 10 14 0.003011141 Mouse Phenotype Single KO retroesophageal right subclavian artery 165 0.0001474419 0.008182578656363636 2.681362 19 0.006998158 261 0.02013153117969349 2.9758 10 19 0.003011141 Mouse Phenotype Single KO abnormal white fat cell number 169 0.0001608851 0.008717306868047338 2.962215 16 0.005893186 365 0.04375488055616438 2.82701 9 18 0.002710027 Mouse Phenotype Single KO abnormal hindbrain size 184 0.000204793 0.010191790766304347 3.346535 13 0.004788214 180 0.004789408093777778 4.112014 8 11 0.002408913 Mouse Phenotype Single KO enlarged lung 242 0.0005441997 0.020591886995454545 2.078443 26 0.009576427 298 0.029470931819463086 2.450075 13 30 0.003914484 Mouse Phenotype Single KO increased lung weight 275 0.0008148313 0.027132400778545455 2.267446 20 0.007366483 300 0.029497752385666664 2.82701 10 20 0.003011141 Mouse Phenotype Single KO decreased hindbrain size 293 0.0009452991 0.029543016582593857 3.169218 11 0.004051565 349 0.041158484785100286 3.769347 6 9 0.001806685 Mouse Phenotype Single KO abnormal facial muscle morphology 318 0.001249692 0.03598562781132075 3.058662 11 0.004051565 292 0.028574923389383562 3.598013 7 11 0.002107799 Mouse Phenotype Single KO abnormal thyroid cartilage morphology 320 0.001263938 0.03616837583125 2.236602 19 0.006998158 365 0.04375488055616438 2.82701 9 18 0.002710027 Mouse Phenotype increased skin papilloma incidence 24 5.411465e-10 2.1557923693749997e-7 3.579682 34 0.01252302 542 0.024647816994464944 2.153912 16 42 0.004817826 Mouse Phenotype abnormal myelopoiesis 37 7.092534e-9 0.0000018327491236216214 2.007439 82 0.03020258 608 0.033410537092105265 1.529075 43 159 0.01294791 Mouse Phenotype thick epidermis 59 1.017908e-7 0.000016495285403389832 2.086833 63 0.02320442 664 0.0465893562876506 1.594724 33 117 0.009936766 Mouse Phenotype epidermal hyperplasia 83 7.334424e-7 0.000084487262486747 2.046163 57 0.02099448 636 0.04072407228773585 1.638081 31 107 0.009334538 Mouse Phenotype abnormal fourth pharyngeal arch artery morphology 90 0.000001277058 0.00013566612819999998 2.564138 34 0.01252302 195 0.0004981908593846154 3.141122 15 27 0.004516712 Mouse Phenotype curly vibrissae 98 0.000001531127 0.00014937862496938774 2.988858 26 0.009576427 388 0.010491908736340205 2.625081 13 28 0.003914484 Mouse Phenotype abnormal lung saccule morphology 109 0.000002533088 0.00022219132447706422 2.314472 39 0.01436464 337 0.006215563543620178 2.402958 17 40 0.00511894 Mouse Phenotype increased papilloma incidence 112 0.000002863653 0.0002444588065446429 2.27423 40 0.01473297 493 0.019237084961866126 1.978907 21 60 0.006323397 Mouse Phenotype abnormal third pharyngeal arch morphology 122 0.000004376905 0.00034301302217213113 2.692134 28 0.01031308 129 0.000033952719323255816 3.432798 17 28 0.00511894 Mouse Phenotype abnormal fourth pharyngeal arch morphology 125 0.000005259078 0.00040225635806400003 2.361993 35 0.01289134 221 0.0007740650493665158 2.918204 16 31 0.004817826 Mouse Phenotype decreased fetal cardiomyocyte proliferation 130 0.000006674327 0.0004908710803615384 3.267129 20 0.007366483 231 0.0009327161118181818 3.658483 11 17 0.003312255 Mouse Phenotype abnormal hair follicle orientation 136 0.000007924986 0.0005571381701911765 2.55423 29 0.0106814 266 0.001908123635300752 2.82701 15 30 0.004516712 Mouse Phenotype abnormal third pharyngeal arch artery morphology 152 0.00001332322 0.0008380480685526317 2.83857 23 0.008471455 268 0.0019695303246268655 3.230868 12 21 0.003613369 Mouse Phenotype absent second pharyngeal arch 170 0.00002950908 0.0016596253757647059 3.039332 19 0.006998158 317 0.0051435103589905365 3.325894 10 17 0.003011141 Mouse Phenotype abnormal ilium morphology 175 0.00003449522 0.0018846217052571432 3.115745 18 0.006629834 247 0.001177833912145749 4.523216 8 10 0.002408913 Mouse Phenotype absent sternum 224 0.00009647742 0.004117949163482143 2.614101 21 0.007734807 380 0.009844237076842106 3.957814 7 10 0.002107799 Mouse Phenotype increased lung weight 255 0.0001391628 0.005217786395294117 2.166066 29 0.0106814 323 0.005270005439628482 2.512898 16 36 0.004817826 Mouse Phenotype abnormal thyroid cartilage morphology 275 0.000199987 0.006953002570909091 2.224819 26 0.009576427 442 0.016359310113800905 2.609548 12 26 0.003613369 Mouse Phenotype absent bone marrow cell 276 0.0002018532 0.006992458134782609 2.264861 25 0.009208103 418 0.013124752958612441 2.9758 10 19 0.003011141 Mouse Phenotype abnormal hindbrain size 298 0.000268954 0.008629091255033557 2.723109 17 0.00626151 368 0.008388878558152174 3.141122 10 18 0.003011141