# GREAT version 4.0.4 Species assembly: hg19 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 atrioventricular canal development 110 3.058884e-9 3.65536638e-7 4.015405 27 0.006617647 186 0.007761126024193549 5.280353 6 7 0.001992693 GO Biological Process AMP metabolic process 127 1.018422e-8 0.0000010541068653543306 4.189061 24 0.005882353 308 0.04667366982142857 3.593574 7 12 0.002324809 GO Biological Process embryonic eye morphogenesis 210 3.572366e-7 0.00002236131003333333 2.148161 54 0.01323529 187 0.008170868735294117 2.717829 15 34 0.004981734 GO Biological Process regulation of dopamine metabolic process 229 6.573317e-7 0.00003773198775764192 2.743441 32 0.007843137 230 0.015952954886956524 3.242322 10 19 0.003321156 GO Biological Process embryonic camera-type eye morphogenesis 242 8.252688e-7 0.00004482710072727273 2.28958 44 0.01078431 211 0.013196863566350709 2.956998 12 25 0.003985387 GO Biological Process negative regulation of stress fiber assembly 396 0.00002254956 0.0007485201166666667 2.504999 27 0.006617647 251 0.024993499747011955 3.080206 10 20 0.003321156 GO Cellular Component integral component of synaptic vesicle membrane 56 0.0001326146 0.004087371421428571 2.379997 24 0.005882353 37 0.04873528935135135 3.285553 8 15 0.002656925 Human Phenotype X-linked inheritance 1 1.245776e-55 8.311817472e-52 2.978709 278 0.06813725 1 4.8739073424e-14 2.498232 88 217 0.02922617 Human Phenotype X-linked recessive inheritance 2 1.730854e-43 5.774128944e-40 3.218315 194 0.04754902 3 9.73915176e-10 2.549136 60 145 0.01992693 Human Phenotype Gonosomal inheritance 3 1.797034e-41 3.996603616e-38 2.487193 278 0.06813725 2 3.403210392e-11 2.258818 88 240 0.02922617 Human Phenotype X-linked dominant inheritance 34 2.603045e-12 5.108093011764706e-10 2.43849 79 0.01936275 65 0.0034125011519999995 2.188567 27 76 0.008967121 Human Phenotype Macrotia 52 2.996527e-11 3.844774643076923e-9 2.007775 109 0.02671569 68 0.003726600465882353 2.053471 31 93 0.01029558 Human Phenotype Abnormality of dental morphology 59 5.712445e-11 6.459903905084746e-9 2.099557 95 0.02328431 84 0.005908576257142857 2.135609 26 75 0.008635005 Human Phenotype Large eyes 70 2.055104e-10 1.958807698285714e-8 4.411753 28 0.006862745 163 0.044764167165644166 3.593574 7 12 0.002324809 Human Phenotype Protruding ear 81 5.590161e-10 4.6046363200000004e-8 2.360464 66 0.01617647 156 0.04097043818461538 2.181813 17 48 0.005645965 Human Phenotype Prominent supraorbital ridges 114 6.428385e-9 3.762296905263158e-7 2.702004 45 0.01102941 50 0.0015223795967999997 3.696247 12 20 0.003985387 Human Phenotype Long nose 116 7.223804e-9 4.154932783448276e-7 2.656985 46 0.01127451 152 0.04050349970526316 3.080206 9 18 0.00298904 Human Phenotype Broad nasal tip 120 8.847726e-9 4.919335655999999e-7 2.242433 63 0.01544118 20 0.00006244935288 3.01467 23 47 0.007638658 Human Phenotype Abnormality of the supraorbital ridges 131 1.434619e-8 7.306700738931298e-7 2.453867 51 0.0125 57 0.002434049776842105 3.194288 14 27 0.004649618 Human Phenotype Microdontia 140 1.82154e-8 8.6809392e-7 2.302924 57 0.01397059 143 0.03373390727832168 2.292246 16 43 0.005313849 Human Phenotype Abnormality of the ulna 153 4.670469e-8 0.000002036690795294118 2.034116 71 0.01740196 116 0.017872487710344827 2.200147 20 56 0.006642312 Human Phenotype Pulmonic stenosis 157 4.980373e-8 0.0000021164999143949044 2.079667 67 0.01642157 116 0.017872487710344827 2.200147 20 56 0.006642312 Human Phenotype Prominent nasal bridge 219 3.192021e-7 0.000009724732471232876 2.033863 62 0.01519608 171 0.04487583298245614 2.053471 19 57 0.006310196 Human Phenotype Radioulnar synostosis 274 0.000001836947 0.00004473032986861314 2.267038 42 0.01029412 130 0.026442388283076924 2.737961 12 27 0.003985387 Human Phenotype Happy demeanor 300 0.00000296068 0.0000658455232 3.944665 17 0.004166667 141 0.03279991162553191 6.160412 4 4 0.001328462 Human Phenotype Diastema 375 0.00002111754 0.00037572327168 3.948614 14 0.003431373 158 0.041329733559493674 4.106941 6 9 0.001992693 Human Phenotype Broad eyebrow 468 0.00008889403 0.001267309761025641 2.708011 20 0.004901961 136 0.028614397729411763 5.133677 5 6 0.001660578 Human Phenotype Hoarse voice 552 0.0003081914 0.0037250960521739125 2.243729 24 0.005882353 166 0.0450211286746988 2.549136 12 29 0.003985387 Human Phenotype Progressive inability to walk 638 0.0009949038 0.010404385820689655 2.417283 17 0.004166667 92 0.009240234104347825 4.106941 8 12 0.002656925 Mouse Phenotype Single KO increased variability of skeletal muscle fiber size 10 1.784938e-18 1.6330397761999999e-15 3.400751 73 0.01789216 257 0.012860699461089496 2.497464 15 37 0.004981734 Mouse Phenotype Single KO failure of initiation of embryo turning 41 4.246176e-12 9.475186396097562e-10 2.762639 62 0.01519608 194 0.005543746946391753 2.464165 18 45 0.00597808 Mouse Phenotype Single KO short scapula 66 4.103421e-10 5.6882119286363636e-8 4.581452 26 0.006372549 405 0.03991421805432099 4.400294 5 7 0.001660578 Mouse Phenotype Single KO head bobbing 68 4.528766e-10 6.093188255e-8 2.274262 72 0.01764706 367 0.031605806335149866 2.330967 14 37 0.004649618 Mouse Phenotype Single KO decreased aggression towards mice 77 1.300743e-9 1.5455191827272726e-7 2.512325 56 0.01372549 233 0.010695801404291844 2.761564 13 29 0.004317502 Mouse Phenotype Single KO decreased aggression 78 1.304367e-9 1.5299556003846154e-7 2.202384 73 0.01789216 394 0.038703660238578685 2.142752 16 46 0.005313849 Mouse Phenotype Single KO abnormal brain interneuron morphology 113 1.322897e-8 0.000001071078287876106 2.460286 51 0.0125 165 0.0037440851929090913 3.080206 13 26 0.004317502 Mouse Phenotype Single KO impaired avoidance learning behavior 115 1.443283e-8 0.0000011482257536521739 2.280817 59 0.01446078 132 0.0014412787046212121 3.194288 14 27 0.004649618 Mouse Phenotype Single KO abnormal muscle regeneration 127 2.614902e-8 0.000001883758928976378 2.259152 58 0.01421569 314 0.02095717141847134 2.174263 18 51 0.00597808 Mouse Phenotype Single KO abnormal neocortex morphology 163 2.415152e-7 0.000013555966655214726 2.176384 54 0.01323529 183 0.00464335147442623 2.874859 14 30 0.004649618 Mouse Phenotype Single KO skeletal muscle necrosis 217 0.000002277192 0.00009600935303225807 2.222587 43 0.01053922 430 0.04434496895581396 2.509797 11 27 0.003653271 Mouse Phenotype Single KO abnormal hippocampus development 238 0.000003889528 0.0001495180322352941 2.30287 38 0.009313725 384 0.03578571786197917 2.91809 9 19 0.00298904 Mouse Phenotype Single KO thick pulmonary interalveolar septum 264 0.000007000877 0.0002426175139128788 2.12129 43 0.01053922 445 0.046836753253932585 2.288153 13 35 0.004317502 Mouse Phenotype Single KO impaired passive avoidance behavior 282 0.00001157061 0.0003753883364893617 2.056582 44 0.01078431 301 0.01943906875116279 2.823522 11 24 0.003653271 Mouse Phenotype Single KO myositis 349 0.00004940333 0.001295103341461318 2.234014 31 0.007598039 448 0.047795764687500006 2.772185 9 20 0.00298904 Mouse Phenotype Single KO proportional dwarf 410 0.0001001193 0.002234125550487805 2.146302 31 0.007598039 325 0.021932509219384614 2.933529 10 21 0.003321156 Mouse Phenotype Single KO decreased inferior colliculus size 521 0.0003171876 0.0055699603692898276 2.390446 21 0.005147059 433 0.04459203583602772 3.696247 6 10 0.001992693 Mouse Phenotype Single KO increased cochlear inner hair cell number 552 0.0004393766 0.00728234875615942 2.18721 24 0.005882353 422 0.044187610390995266 3.317145 7 13 0.002324809 Mouse Phenotype Single KO increased atrioventricular cushion size 680 0.001166568 0.015695486223529412 2.069714 23 0.005637255 220 0.009326336730454547 4.312288 7 10 0.002324809 Mouse Phenotype Single KO abnormal joint mobility 704 0.001392633 0.018098294484375 2.079005 22 0.005392157 80 0.0000688853141025 5.133677 10 12 0.003321156 Mouse Phenotype Single KO abnormal bile composition 807 0.002874566 0.032589100785625776 2.07558 19 0.004656863 448 0.047795764687500006 2.772185 9 20 0.00298904 Mouse Phenotype absent external male genitalia 23 4.366315e-17 1.813729283043478e-14 5.019684 43 0.01053922 607 0.04747477038220758 4.928329 4 5 0.001328462 Mouse Phenotype abnormal renal fat pad morphology 27 1.787464e-16 6.324974465185185e-14 3.972149 53 0.0129902 587 0.04417299224190801 2.566838 10 24 0.003321156 Mouse Phenotype increased variability of skeletal muscle fiber size 39 6.372812e-15 1.5611755345641024e-12 2.753715 79 0.01936275 493 0.029762512275862067 2.053471 18 54 0.00597808 Mouse Phenotype failure of initiation of embryo turning 49 1.128663e-13 2.2006625106122452e-11 2.564958 81 0.01985294 185 0.0016197934229189189 2.361491 23 60 0.007638658 Mouse Phenotype abnormal branching of the mammary ductal tree 120 1.495245e-9 1.1904642274999999e-7 2.223113 71 0.01740196 415 0.019850343497831324 2.053471 20 60 0.006642312 Mouse Phenotype abnormal nursing 152 1.663154e-8 0.0000010453798234210526 2.253371 60 0.01470588 250 0.0040740587176 2.554317 17 41 0.005645965 Mouse Phenotype absent cochlear hair cells 178 5.431886e-8 0.000002915519036179775 2.28475 54 0.01323529 382 0.015995219263350784 2.823522 11 24 0.003653271 Mouse Phenotype decreased cochlear coiling 182 6.996668e-8 0.0000036728662676923073 2.266268 54 0.01323529 363 0.012560843828650138 3.080206 10 20 0.003321156 Mouse Phenotype decreased aggression towards mice 193 1.170581e-7 0.0000057946792093264245 2.192054 56 0.01372549 459 0.025295245333333334 2.426829 13 33 0.004317502 Mouse Phenotype abnormal hippocampus development 197 1.304679e-7 0.00000632736201319797 2.220948 54 0.01323529 285 0.00591266554245614 2.860191 13 28 0.004317502 Mouse Phenotype loss of hippocampal neurons 200 1.470201e-7 0.000007023150177 2.539624 41 0.01004902 230 0.0033430621557391307 3.623772 10 17 0.003321156 Mouse Phenotype impaired avoidance learning behavior 207 1.809832e-7 0.000008353205279227054 2.029577 65 0.01593137 196 0.0019736711693877553 2.816188 16 35 0.005313849 Mouse Phenotype frontal bone foramen 221 2.800686e-7 0.000012107581015384616 4.047934 20 0.004901961 377 0.014781256958620688 5.133677 5 6 0.001660578 Mouse Phenotype thick pulmonary interalveolar septum 281 0.000001906287 0.000064813758 2.013341 55 0.01348039 592 0.04435555855743243 2.053471 16 48 0.005313849 Mouse Phenotype abnormal hippocampus CA3 region morphology 302 0.000002918576 0.0000923313745165563 2.096375 48 0.01176471 316 0.00823557218734177 2.761564 13 29 0.004317502 Mouse Phenotype abnormal circulating renin level 303 0.000002990179 0.00009428438998679868 2.505685 33 0.008088235 449 0.023834570200445434 2.549136 12 29 0.003985387 Mouse Phenotype thymus cortex atrophy 311 0.000003474606 0.00010674079010932477 5.013869 13 0.003186275 516 0.0327148216124031 4.400294 5 7 0.001660578 Mouse Phenotype proportional dwarf 408 0.00002165153 0.0005070066608333333 2.127324 38 0.009313725 482 0.028641841456431533 2.606328 11 26 0.003653271 Mouse Phenotype increased urine osmolality 441 0.00003878419 0.0008402361706575964 2.881641 20 0.004901961 447 0.023374363279642058 3.593574 7 12 0.002324809 Mouse Phenotype disorganized retinal layers 497 0.00007170095 0.0013783317430583499 2.156782 32 0.007843137 421 0.02094031649976247 3.080206 9 18 0.00298904 Mouse Phenotype absent alveolar process 532 0.0001188467 0.0021343258868421052 3.348627 14 0.003431373 607 0.04747477038220758 4.928329 4 5 0.001328462 Mouse Phenotype abnormal mesenchymal cell proliferation involved in lung development 626 0.0003434544 0.005241794469009585 2.079648 28 0.006862745 230 0.0033430621557391307 3.623772 10 17 0.003321156 Mouse Phenotype abnormal joint mobility 659 0.0004520453 0.006553627915326252 2.107036 26 0.006372549 130 0.0002926775299692308 4.235283 11 16 0.003653271 Mouse Phenotype increased atrioventricular cushion size 855 0.001789033 0.01999113600233918 2.000249 23 0.005637255 447 0.023374363279642058 3.593574 7 12 0.002324809