# 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 hormone secretion 79 0.00001050087 0.0017491259282278481 2.101345 42 0.01878354 459 0.015108125987799564 2.011472 23 72 0.007712944 GO Biological Process embryonic axis specification 84 0.00001610388 0.0025227494871428568 2.454443 29 0.01296959 659 0.0497822342276176 2.273837 13 36 0.00435949 GO Biological Process embryonic placenta morphogenesis 102 0.00004616957 0.005956327172843137 2.613061 23 0.01028623 232 0.0005141826500560345 3.390574 14 26 0.004694836 GO Biological Process desmosome assembly 125 0.0001142094 0.0120230519568 6.639828 7 0.00313059 482 0.01733669038112033 6.296781 4 4 0.001341382 GO Biological Process branching involved in labyrinthine layer morphogenesis 139 0.0001838652 0.01740634652374101 3.600623 12 0.005366726 535 0.02348557567233645 3.673122 7 12 0.002347418 GO Biological Process labyrinthine layer development 172 0.0003457318 0.02645049276860465 2.075892 28 0.01252236 505 0.019350236539207918 2.23011 17 48 0.005700872 GO Biological Process labyrinthine layer morphogenesis 196 0.0005762832 0.03869036035102041 2.394371 19 0.008497317 488 0.017569735009016395 2.998467 10 21 0.003353454 Human Phenotype Aplasia/Hypoplasia of toe 9 4.291984e-8 0.000031822676924444444 2.491063 46 0.02057245 30 0.003318487348666667 2.518712 22 55 0.007377599 Human Phenotype Short toe 14 2.437045e-7 0.00011616000917857144 2.589517 38 0.01699463 71 0.008260345984084507 2.518712 18 45 0.006036217 Human Phenotype Neoplasm of striated muscle 31 0.00001888336 0.00406479552516129 3.759482 15 0.006708408 34 0.0033396029450000002 3.848033 11 18 0.003688799 Human Phenotype 2-3 toe syndactyly 78 0.0004257476 0.03642325301025641 2.018715 29 0.01296959 164 0.04007563327865853 2.48055 13 33 0.00435949 Human Phenotype Abnormality of the meninges 91 0.0005865498 0.04301150346593406 2.329564 20 0.008944544 73 0.01034046251780822 2.843707 14 31 0.004694836 Human Phenotype Abnormality of the distal phalanx of the thumb 98 0.0007239461 0.049294819645918364 2.784224 14 0.006261181 65 0.006810401176461539 3.703989 10 17 0.003353454 Human Phenotype Iris coloboma 105 0.000778343 0.049465550847619055 2.058678 25 0.01118068 105 0.017963868525714285 2.552749 15 37 0.005030181 Mouse Phenotype Single KO abnormal mammary gland bud morphology 8 1.075647e-8 0.000012312124473749999 5.559775 18 0.008050089 516 0.0491954678624031 5.037425 4 5 0.001341382 Mouse Phenotype Single KO abnormal mammary gland embryonic development 12 7.576626e-8 0.000057815970234999996 3.88224 23 0.01028623 202 0.003067599079851485 4.897496 7 9 0.002347418 Mouse Phenotype Single KO failure of heart looping 22 4.789763e-7 0.00019936299905 2.680536 34 0.01520572 212 0.0034778467412264155 2.61086 17 41 0.005700872 Mouse Phenotype Single KO abnormal impulse conducting system morphology 24 0.000001083114 0.00041325312075 3.857504 19 0.008497317 464 0.03702729651077586 3.778068 6 10 0.002012072 Mouse Phenotype Single KO abnormal circulating aldosterone level 31 0.000003431894 0.0010137372050967742 2.853243 26 0.01162791 461 0.03694023185032538 2.338804 13 35 0.00435949 Mouse Phenotype Single KO increased circulating aldosterone level 32 0.000003771805 0.00107932557453125 2.987679 24 0.01073345 482 0.04358304546680498 2.623659 10 24 0.003353454 Mouse Phenotype Single KO abnormal aldosterone level 36 0.000005677454 0.0014441235077222224 2.709248 27 0.01207513 422 0.029891333973933645 2.319867 14 38 0.004694836 Mouse Phenotype Single KO abnormal apical ectodermal ridge morphology 40 0.000007875367 0.001802868390475 2.659185 27 0.01207513 228 0.00475592089122807 3.298314 11 21 0.003688799 Mouse Phenotype Single KO abnormal circulating phosphate level 43 0.000009989131 0.002127220292255814 2.228807 37 0.01654741 454 0.036007401469162995 1.856743 23 78 0.007712944 Mouse Phenotype Single KO midface hypoplasia 59 0.00003650815 0.005666188636440679 4.288604 12 0.005366726 436 0.03348385163990825 4.4977 5 7 0.001676727 Mouse Phenotype Single KO overriding aortic valve 64 0.00005317071 0.00760756549171875 2.158948 33 0.0147585 95 0.00007628568502 2.839725 23 51 0.007712944 Mouse Phenotype Single KO abnormal ectoderm morphology 108 0.0002943429 0.024956462363888886 2.130914 27 0.01207513 446 0.035665570556053815 2.565355 11 27 0.003688799 Mouse Phenotype Single KO abnormal hair follicle orientation 112 0.0003395599 0.027762053609821428 2.878774 15 0.006708408 289 0.007902769829065745 3.541939 9 16 0.003018109 Mouse Phenotype Single KO long incisors 120 0.0004223695 0.03223031259583333 3.096338 13 0.005813953 386 0.02057144010025907 4.197854 6 9 0.002012072 Mouse Phenotype Single KO abnormal pterygoid bone morphology 133 0.0006060377 0.0417254678112782 2.836836 14 0.006261181 179 0.0021510222713966476 4.579477 8 11 0.002682763 Mouse Phenotype hypokalemia 6 6.965188e-9 0.000011099027078 5.388707 19 0.008497317 787 0.0374678824841169 3.14839 7 14 0.002347418 Mouse Phenotype small scala media 17 4.380171e-7 0.00024634597018235294 4.549723 17 0.007602862 690 0.025998063352173913 3.778068 6 10 0.002012072 Mouse Phenotype abnormal mammary gland embryonic development 20 9.553728e-7 0.00045671596703999995 3.344721 23 0.01028623 569 0.016044388033919155 3.673122 7 12 0.002347418 Mouse Phenotype failure of heart looping 30 0.000002972236 0.0009472516131999999 2.217245 42 0.01878354 285 0.0009231138790526316 2.494951 21 53 0.007042254 Mouse Phenotype abnormal impulse conducting system morphology 35 0.000004985904 0.0013620065184 3.216634 21 0.009391771 481 0.00968652937047817 3.59816 8 14 0.002682763 Mouse Phenotype dry skin 40 0.000007532493 0.001800454139325 3.128372 21 0.009391771 743 0.03115336680484522 2.203873 14 40 0.004694836 Mouse Phenotype increased circulating aldosterone level 44 0.000009167999 0.001992164509977273 2.694755 26 0.01162791 808 0.040168470738861387 2.388434 11 29 0.003688799 Mouse Phenotype abnormal circulating phosphate level 51 0.00001625688 0.0030476868564705884 2.177942 37 0.01654741 828 0.041826511318840576 1.76617 23 82 0.007712944 Mouse Phenotype abnormal aldosterone level 58 0.00002317676 0.0038205690062068963 2.325161 31 0.01386404 721 0.028960733126213594 2.098927 16 48 0.005365526 Mouse Phenotype epidermal cyst 60 0.00002458162 0.003917081147 3.333634 17 0.007602862 612 0.019976022264705882 2.982686 9 19 0.003018109 Mouse Phenotype abnormal apical ectodermal ridge morphology 69 0.00004034926 0.005591003983478261 2.08376 37 0.01654741 183 0.00008836438162295082 3.067662 19 39 0.006371563 Mouse Phenotype abnormal hair follicle orientation 70 0.00004210517 0.005750964719571429 2.566677 24 0.01073345 435 0.007218286852413792 2.728605 13 30 0.00435949 Mouse Phenotype sinus bradycardia 82 0.00008476682 0.009883604463658538 2.897739 18 0.008050089 787 0.0374678824841169 3.14839 7 14 0.002347418 Mouse Phenotype abnormal pterygoid bone morphology 110 0.0001964508 0.017075146352727274 2.798428 17 0.007602862 167 0.00006667910101796408 4.617639 11 15 0.003688799 Mouse Phenotype genital tubercle hypoplasia 115 0.0002366232 0.019672647088695653 3.12444 14 0.006261181 351 0.002632153106153846 5.397241 6 7 0.002012072 Mouse Phenotype abnormal genital tubercle morphology 140 0.0004930345 0.033670734675 2.57771 17 0.007602862 247 0.0005163218701214574 5.037425 8 10 0.002682763 Mouse Phenotype absent metanephric mesenchyme 144 0.0005047527 0.033513476143750005 3.425894 11 0.004919499 488 0.010276795628483607 5.247317 5 6 0.001676727 Mouse Phenotype long incisors 146 0.0005067898 0.0331877895739726 2.491345 18 0.008050089 320 0.00176824988278125 4.04793 9 14 0.003018109 Mouse Phenotype abnormal renal water transport 154 0.0005547224 0.03443961601558442 3.649557 10 0.004472272 818 0.04177794663814181 3.434608 6 11 0.002012072 Mouse Phenotype impaired synaptic plasticity 159 0.0005909892 0.03553740717735849 2.033479 27 0.01207513 311 0.001455732343504823 2.545507 19 47 0.006371563