# 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 odontogenesis 35 0.000005420619 0.0020379978691714286 2.152635 42 0.03514644 22 0.0000014478309377272727 3.23317 31 108 0.01859628 GO Biological Process embryonic placenta development 110 0.0001908696 0.022833209694545456 2.150411 28 0.02343096 345 0.027587782472753623 2.278102 18 89 0.01079784 GO Biological Process venous blood vessel development 112 0.000199694 0.02346226201785714 3.562369 12 0.01004184 260 0.012099882701538462 4.927977 7 16 0.00419916 GO Biological Process positive regulation of protein export from nucleus 118 0.0002272566 0.02534296270677966 5.092394 8 0.006694561 354 0.030847290627683616 4.149875 7 19 0.00419916 GO Biological Process positive regulation of stem cell differentiation 133 0.000292225 0.028912697556390976 2.915994 15 0.0125523 36 0.000007150721224166667 7.288436 11 17 0.00659868 GO Biological Process epithelial to mesenchymal transition 136 0.0002992318 0.02895287688382353 2.089759 28 0.02343096 43 0.000007671449121162791 3.754649 22 66 0.01319736 GO Biological Process regulation of biomineral tissue development 146 0.0003820795 0.034436877674657536 2.088919 27 0.02259414 265 0.01233896587962264 2.553161 17 75 0.01019796 GO Biological Process negative regulation of epithelial cell differentiation 156 0.0004495968 0.037924642892307694 2.44046 19 0.01589958 138 0.0006366534934710144 4.067536 13 36 0.00779844 GO Biological Process blood vessel endothelial cell fate specification 174 0.0006248088 0.047252063213793105 5.931869 6 0.005020921 335 0.027440604110149255 11.26395 3 3 0.00179964 Human Phenotype Abnormal palmar dermatoglyphics 30 0.0000600772 0.013363171853333333 2.19909 31 0.02594142 32 0.043630805759374995 2.587664 17 74 0.01019796 Human Phenotype Abnormal dermatoglyphics 42 0.00009835091 0.015626086248333334 2.138512 31 0.02594142 40 0.049044197767500006 2.519567 17 76 0.01019796 Human Phenotype Abnormality of dental eruption 43 0.0001007674 0.015637694423255813 2.167111 30 0.0251046 11 0.015808179274545454 2.815987 19 76 0.01139772 Human Phenotype Reduced number of teeth 50 0.000160203 0.02138069238 2.078959 31 0.02594142 21 0.026925977623333337 2.463988 21 96 0.01259748 Mouse Phenotype Single KO abnormal cochlear inner hair cell number 19 6.471849e-9 0.000003119090594368421 4.115004 25 0.0209205 248 0.01798503108266129 3.620554 9 28 0.00539892 Mouse Phenotype Single KO small pterygoid bone 32 1.532295e-7 0.000043847579109375 8.335581 11 0.009205021 217 0.012138168955299539 9.011158 4 5 0.00239952 Mouse Phenotype Single KO abnormal pterygoid bone morphology 37 7.442522e-7 0.00018419236203783785 5.308088 14 0.01171548 96 0.0009807003921874999 7.167966 7 11 0.00419916 Mouse Phenotype Single KO abnormal pterygoid process morphology 53 0.00001335734 0.0023077955166037733 3.215748 19 0.01589958 39 0.0000034710125048717946 6.758368 12 20 0.00719856 Mouse Phenotype Single KO incomplete somite formation 56 0.00001617033 0.0026441377108928567 2.873117 22 0.01841004 253 0.01942790018853755 3.097585 11 40 0.00659868 Mouse Phenotype Single KO abnormal maxillary shelf morphology 63 0.00004335492 0.006301603213333334 3.175396 17 0.01422594 58 0.0000629137210775862 5.900163 11 21 0.00659868 Mouse Phenotype Single KO impaired somite development 68 0.00005253283 0.007074163592794118 2.250175 30 0.0251046 207 0.011204593673429951 2.404663 19 89 0.01139772 Mouse Phenotype Single KO abnormal vestibular labyrinth morphology 70 0.00005497752 0.007191845009142858 2.147962 33 0.02761506 300 0.027141473145666666 2.371357 16 76 0.00959808 Mouse Phenotype Single KO abnormal cochlear hair cell number 75 0.00007112806 0.008684261938933334 2.21142 30 0.0251046 251 0.01904079583266932 2.672801 14 59 0.00839832 Mouse Phenotype Single KO increased neuron number 78 0.0001023246 0.01201264566923077 2.316803 26 0.02175732 61 0.0000708187218409836 3.46583 20 65 0.0119976 Mouse Phenotype Single KO abnormal alisphenoid bone morphology 98 0.00028824 0.026932792653061227 3.057699 14 0.01171548 323 0.03343991815789473 3.942382 7 20 0.00419916 Mouse Phenotype Single KO abnormal pinna reflex 102 0.0003140229 0.028191251914705884 2.052621 29 0.02426778 340 0.03831795128235294 2.346656 15 72 0.0089982 Mouse Phenotype Single KO abnormal basicranium morphology 111 0.0004134368 0.03410667367207207 2.01707 29 0.02426778 74 0.00021641567179729728 3.218271 20 70 0.0119976 Mouse Phenotype Single KO absent enamel 119 0.0004989156 0.03839134579159664 6.195666 6 0.005020921 161 0.005621118295031056 8.045677 5 7 0.0029994 Mouse Phenotype Single KO abnormal basisphenoid bone morphology 132 0.0006291342 0.04364380204090909 2.208106 22 0.01841004 76 0.0002620392422236842 3.929284 15 43 0.0089982 Mouse Phenotype abnormal cochlear inner hair cell number 17 4.047461e-9 0.0000022763396835882358 3.818765 28 0.02343096 395 0.012873947012658229 3.312926 10 34 0.0059988 Mouse Phenotype abnormal otolith morphology 18 4.503512e-9 0.0000023921154573333333 4.532294 23 0.01924686 553 0.03134419110488246 3.071986 9 33 0.00539892 Mouse Phenotype abnormal otolithic membrane morphology 22 1.010069e-8 0.000004389668049545454 4.335044 23 0.01924686 464 0.01803217375474138 3.128874 10 36 0.0059988 Mouse Phenotype small pterygoid bone 30 1.532295e-7 0.00004883424165 8.335581 11 0.009205021 332 0.00828371087620482 9.011158 4 5 0.00239952 Mouse Phenotype absent cochlear hair cells 33 0.000001525466 0.0004419691038181818 3.24146 23 0.01924686 508 0.02598809663976378 3.46583 8 26 0.00479904 Mouse Phenotype abnormal pterygoid bone morphology 34 0.000001653222 0.00046489575123529413 4.620195 15 0.0125523 168 0.0007863387539285715 6.007439 8 15 0.00479904 Mouse Phenotype abnormal vestibular saccule morphology 42 0.000005404536 0.0012303040165714287 2.502611 31 0.02594142 461 0.01763367169132321 2.662388 13 55 0.00779844 Mouse Phenotype abnormal pterygoid process morphology 52 0.00001619041 0.0029768559617307693 2.960909 21 0.01757322 65 0.0000056810535318461535 5.437768 14 29 0.00839832 Mouse Phenotype impaired somite development 53 0.00001850118 0.003337543056226415 2.041414 42 0.03514644 131 0.00032011512531297706 2.503099 28 126 0.01679664 Mouse Phenotype abnormal vestibular labyrinth morphology 55 0.00002206932 0.0038364503367272727 2.045812 41 0.03430962 172 0.0008893720022093023 2.66459 22 93 0.01319736 Mouse Phenotype incomplete somite formation 56 0.00003097043 0.0052876478791071425 2.447003 27 0.02259414 243 0.003038735251604938 3.017129 15 56 0.0089982 Mouse Phenotype failure of heart looping 61 0.00005187161 0.00813023710180328 2.469496 25 0.0209205 206 0.0017779431384466018 3.18791 15 53 0.0089982 Mouse Phenotype abnormal otolith organ morphology 63 0.0000584727 0.00887392832857143 2.170638 32 0.02677824 500 0.023614350582 2.463988 14 64 0.00839832 Mouse Phenotype abnormal cochlear hair cell number 66 0.00006686359 0.009686102787727274 2.072073 35 0.0292887 292 0.005745872860273973 2.623111 17 73 0.01019796 Mouse Phenotype caudal body truncation 82 0.0001709172 0.019928528648780485 2.497884 21 0.01757322 181 0.0009866925588397789 3.218271 16 56 0.00959808 Mouse Phenotype palatal shelves fail to meet at midline 91 0.0002851471 0.02995924640769231 2.129754 27 0.02259414 62 0.000004398311361774194 4.196372 19 51 0.01139772 Mouse Phenotype abnormal pinna reflex 93 0.0003045583 0.03131055813225807 2.027883 30 0.0251046 425 0.014711366722588236 2.435448 16 74 0.00959808 Mouse Phenotype decreased cochlear hair cell number 98 0.0003474175 0.03389447670918368 2.10217 27 0.02259414 605 0.043544950269421484 2.457588 12 55 0.00719856 Mouse Phenotype abnormal maxillary shelf morphology 106 0.0003741271 0.03374555851981132 2.352017 21 0.01757322 86 0.00003223471138604651 4.778644 14 33 0.00839832 Mouse Phenotype abnormal branching involved in terminal bronchiole morphogenesis 115 0.000438577 0.036462910408695655 4.120449 9 0.007531381 528 0.029050193102272727 5.119976 5 11 0.0029994