# 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 embryonic forelimb morphogenesis 97 3.086431e-11 4.187045930824742e-9 2.316578 79 0.01381602 335 0.00003197772518059701 2.573602 22 32 0.004385965 GO Biological Process negative regulation of stem cell population maintenance 114 2.483241e-10 2.866400729736842e-8 5.327401 23 0.004022385 696 0.0068556612778735634 3.743421 6 6 0.001196172 GO Biological Process nephron tubule formation 124 1.51527e-9 1.6080191879032262e-7 2.356355 63 0.01101784 412 0.0002902380340533981 2.91155 14 18 0.002791069 GO Biological Process forelimb morphogenesis 127 2.500527e-9 2.5909003774015745e-7 2.034773 85 0.01486534 320 0.0000182097408384375 2.433224 26 40 0.005183413 GO Biological Process metanephric nephron development 129 2.548863e-9 2.6000378462790697e-7 2.09637 79 0.01381602 315 0.000012904333664126985 2.609051 23 33 0.004585327 GO Biological Process positive regulation of kidney development 133 3.348417e-9 3.312918744586466e-7 2.117357 76 0.01329136 418 0.0003019382289760765 2.246053 24 40 0.004784689 GO Biological Process negative regulation of NF-kappaB import into nucleus 141 6.224575e-9 5.809161874113474e-7 3.18121 35 0.006121021 965 0.030389585507772023 2.287646 11 18 0.002192982 GO Biological Process pattern specification involved in kidney development 146 2.40326e-8 0.0000021660615301369863 2.765277 40 0.006995453 627 0.003721302238277512 3.327485 8 9 0.001594896 GO Biological Process dorsal spinal cord development 150 2.977479e-8 0.0000026120430774 2.702824 41 0.007170339 799 0.012204508064705884 2.317356 13 21 0.002591707 GO Biological Process regulation of mesenchymal cell apoptotic process 162 5.966631e-8 0.000004846598600555556 2.596581 42 0.007345226 555 0.0016522061041441443 3.119518 10 12 0.00199362 GO Biological Process negative regulation of kidney development 166 8.783221e-8 0.000006962554526445782 2.360187 49 0.00856943 412 0.0002902380340533981 2.91155 14 18 0.002791069 GO Biological Process regulation of stem cell population maintenance 169 1.088329e-7 0.00000847415462189349 2.505779 43 0.007520112 584 0.0027800325297945207 2.441362 15 23 0.002990431 GO Biological Process regulation of nephron tubule epithelial cell differentiation 172 1.239975e-7 0.000009486529665697675 2.594095 40 0.006995453 782 0.01122814391943734 2.807566 9 12 0.001794258 GO Biological Process mesenchymal to epithelial transition 181 2.618212e-7 0.000019034835197790056 2.423379 43 0.007520112 743 0.009408917009286675 2.573602 11 16 0.002192982 GO Biological Process negative regulation of transcription factor import into nucleus 183 2.719127e-7 0.000019552454750273223 2.391605 44 0.007694998 1050 0.043985724565714285 1.821124 18 37 0.003588517 GO Biological Process kidney mesenchyme development 188 4.08401e-7 0.00002858589765425532 2.38203 43 0.007520112 286 0.0000026118245459790207 3.327485 16 18 0.003189793 GO Biological Process parathyroid gland development 191 4.596281e-7 0.00003166621030314136 3.764303 21 0.003672613 922 0.02793884055748373 3.208647 6 7 0.001196172 GO Biological Process negative regulation of morphogenesis of an epithelium 205 7.876e-7 0.00005055623609756097 2.204204 48 0.008394544 556 0.0017151639405035971 2.703582 13 18 0.002591707 GO Biological Process negative regulation of mesenchymal cell apoptotic process 216 0.000001093363 0.00006660909128240741 2.631772 33 0.005771249 787 0.011321408351715374 2.994737 8 10 0.001594896 GO Biological Process metanephric mesenchyme development 225 0.000001726918 0.0001009978398311111 2.574928 33 0.005771249 397 0.00022433231177329974 3.208647 12 14 0.002392344 GO Cellular Component sodium channel complex 27 0.0000757203 0.0048460992 2.372859 26 0.004547044 39 0.00653517636923077 2.495614 14 21 0.002791069 GO Molecular Function HMG box domain binding 40 0.00002056665 0.0021708099075 2.133976 38 0.00664568 47 0.006509953901276596 2.703582 13 18 0.002591707 GO Molecular Function FMN binding 80 0.0008021322 0.042332526855 2.093059 24 0.004197272 48 0.006785997730833333 2.941259 11 14 0.002192982 Human Phenotype Vesicoureteral reflux 17 5.318967e-8 0.000020878509877058827 2.041218 70 0.01224204 99 0.04798968834848485 1.917362 21 41 0.004186603 Mouse Phenotype Single KO abnormal apical ectodermal ridge morphology 33 3.069605e-11 8.517688783333334e-9 2.541888 66 0.0115425 996 0.028476633508032128 2.139098 12 21 0.002392344 Mouse Phenotype Single KO abnormal PR interval 45 3.648101e-10 7.423480190444444e-8 2.635416 55 0.009618748 1172 0.04236814201877133 1.871711 15 30 0.002990431 Mouse Phenotype Single KO abnormal impulse conducting system morphology 57 1.840303e-9 2.956430626491228e-7 3.096314 39 0.006820567 703 0.008819626421621622 2.994737 8 10 0.001594896 Mouse Phenotype Single KO abnormal ectoderm morphology 61 2.806079e-9 4.212338590655738e-7 2.191231 71 0.01241693 1095 0.039464930588127854 1.941033 14 27 0.002791069 Mouse Phenotype Single KO abnormal clitoris morphology 78 1.997253e-8 0.000002344723810384615 2.784899 40 0.006995453 1193 0.04643670514836547 2.807566 6 8 0.001196172 Mouse Phenotype Single KO absent mammary gland 91 1.184324e-7 0.000011917422931868132 2.718253 37 0.006470794 675 0.008050728585777779 3.275493 7 8 0.001395534 Mouse Phenotype Single KO prolonged QRS complex duration 100 2.233692e-7 0.000020453917644 2.149273 56 0.009793634 409 0.0009185315055990221 2.447621 17 26 0.003389155 Mouse Phenotype Single KO bundle branch block 103 2.626643e-7 0.00002335162131165048 2.121694 57 0.00996852 354 0.0004198523300847458 2.495614 18 27 0.003588517 Mouse Phenotype Single KO decreased gamma-delta T cell number 108 3.482651e-7 0.000029528365932407405 2.118405 56 0.009793634 1086 0.038795603555248616 1.68072 22 49 0.004385965 Mouse Phenotype Single KO thick interventricular septum 112 5.914944e-7 0.0000483599484 2.577314 36 0.006295908 618 0.00544866244644013 2.218324 16 27 0.003189793 Mouse Phenotype Single KO abnormal alisphenoid bone morphology 116 9.270381e-7 0.00007318006794568966 2.190946 48 0.008394544 622 0.005500224187138264 2.433224 13 20 0.002591707 Mouse Phenotype Single KO increased NK cell number 118 0.000001007359 0.0000781727657881356 2.12668 51 0.008919203 1249 0.04820319580944756 1.586195 25 59 0.004984051 Mouse Phenotype Single KO abnormal induced retinal neovascularization 138 0.00000263003 0.00017451583123188406 2.482918 34 0.005946135 213 0.000014239526214553992 3.030388 17 21 0.003389155 Mouse Phenotype Single KO short endolymphatic duct 144 0.00000333831 0.00021228406020833333 3.432177 20 0.003497726 610 0.005443260059344262 3.743421 6 6 0.001196172 Mouse Phenotype Single KO abnormal uterine horn morphology 149 0.00000438036 0.0002692010504697987 2.591633 30 0.00524659 815 0.015607527867484662 2.495614 10 15 0.00199362 Mouse Phenotype Single KO abnormal interventricular septum thickness 156 0.000005746046 0.000337285533474359 2.099241 45 0.007869885 839 0.017105909022646006 1.828182 21 43 0.004186603 Mouse Phenotype Single KO abnormal common crus morphology 163 0.000007153466 0.00040186679853987725 2.439887 32 0.005596362 703 0.008819626421621622 2.994737 8 10 0.001594896 Mouse Phenotype Single KO abnormal neural fold formation 184 0.00001373728 0.0006836536573913044 2.024689 45 0.007869885 692 0.008547655903901734 2.139098 16 28 0.003189793 Mouse Phenotype Single KO absent fibula 187 0.00001505431 0.0007371781640106952 2.516055 28 0.004896817 1193 0.04643670514836547 2.807566 6 8 0.001196172 Mouse Phenotype Single KO absent ovary 188 0.00001566206 0.0007628589543617022 2.560821 27 0.004721931 699 0.008741135958512159 2.807566 9 12 0.001794258 Mouse Phenotype abnormal apical ectodermal ridge morphology 32 3.471944e-11 1.0373517682499999e-8 2.114194 96 0.01678909 866 0.0032393275222863745 2.015688 21 39 0.004186603 Mouse Phenotype abnormal carpal bone morphology 38 1.397438e-10 3.516027557368421e-8 2.134619 88 0.01539 1646 0.03130403836695018 1.734756 19 41 0.003787879 Mouse Phenotype abnormal stomach smooth muscle circular layer morphology 52 1.21441e-9 2.2328796173076923e-7 3.94671 29 0.005071703 1151 0.011283657951346655 3.743421 5 5 0.0009968102 Mouse Phenotype abnormal clitoris morphology 74 1.997253e-8 0.0000025805048558108105 2.784899 40 0.006995453 1675 0.03453322463641791 2.807566 6 8 0.001196172 Mouse Phenotype abnormal pterygoid bone morphology 75 2.023084e-8 0.0000025790274831999998 2.703598 42 0.007345226 1765 0.03654663810764872 2.246053 9 15 0.001794258 Mouse Phenotype abnormal stomach muscularis externa morphology 82 3.044918e-8 0.0000035503001217073174 3.163989 32 0.005596362 968 0.005861566615909091 3.275493 7 8 0.001395534 Mouse Phenotype absent mammary gland 99 1.184324e-7 0.000011437698751515153 2.718253 37 0.006470794 968 0.005861566615909091 3.275493 7 8 0.001395534 Mouse Phenotype abnormal impulse conducting system morphology 103 1.368388e-7 0.00001270209482330097 2.515702 42 0.007345226 1430 0.023615897324475523 2.406485 9 14 0.001794258 Mouse Phenotype thick interventricular septum 105 1.463816e-7 0.000013329090262857143 2.233977 53 0.009268975 866 0.0032393275222863745 2.015688 21 39 0.004186603 Mouse Phenotype small alisphenoid bone 112 1.952591e-7 0.000016668502277678573 2.394069 45 0.007869885 951 0.005341071182018927 2.573602 11 16 0.002192982 Mouse Phenotype abnormal intestinal transit time 128 5.156946e-7 0.0000385199693015625 2.516901 38 0.00664568 1294 0.016466384223338484 2.287646 11 18 0.002192982 Mouse Phenotype improved righting response 136 5.871506e-7 0.000041277550636764705 3.57142 22 0.003847499 1241 0.015081618473811441 3.208647 6 7 0.001196172 Mouse Phenotype increased pancreatic acinar cell number 139 7.015101e-7 0.00004825279184244604 3.813003 20 0.003497726 1151 0.011283657951346655 3.743421 5 5 0.0009968102 Mouse Phenotype abnormal neural fold formation 140 7.207375e-7 0.000049221223125 2.152195 51 0.008919203 1090 0.009006935664220183 1.981811 18 34 0.003588517 Mouse Phenotype abnormal ureter development 155 0.000001097634 0.00006770631402580645 2.038974 56 0.009793634 936 0.004766100275961539 2.246053 15 25 0.002990431 Mouse Phenotype abnormal uterine horn morphology 158 0.000001154195 0.00006984340756329113 2.501754 36 0.006295908 1216 0.013766762814967104 2.246053 12 20 0.002392344 Mouse Phenotype abnormal external auditory canal morphology 166 0.000001367274 0.00007875004044578313 2.649931 32 0.005596362 1121 0.009737243090098126 2.422214 11 17 0.002192982 Mouse Phenotype absent tympanic ring 169 0.000001581227 0.0000894562801597633 2.092414 51 0.008919203 444 0.00006567797593918919 2.955332 15 19 0.002990431 Mouse Phenotype absent ureter 170 0.000001626935 0.00009150073844117647 2.280195 42 0.007345226 1054 0.007541234214421252 2.159666 15 26 0.002990431 Mouse Phenotype decreased spleen iron level 191 0.000003513732 0.00017588896152879581 3.006724 24 0.004197272 1610 0.03096873817453416 2.202012 10 17 0.00199362