# 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 regulation of transforming growth factor beta receptor signaling pathway 9 6.293629e-13 9.201984890111111e-10 3.190368 53 0.03612815 186 0.0057709494898387104 2.407308 22 100 0.01282051 GO Biological Process regulation of cellular response to transforming growth factor beta stimulus 11 7.886926e-13 9.434914475818182e-10 3.171062 53 0.03612815 202 0.007251006375742575 2.360106 22 102 0.01282051 GO Biological Process regulation of epithelial to mesenchymal transition 24 4.049051e-10 2.2200609212083333e-7 2.692084 52 0.03544649 294 0.02971127194251701 2.354674 17 79 0.00990676 GO Biological Process regulation of transcription from RNA polymerase II promoter in response to stress 100 8.719319e-7 0.00011473751872099999 2.862795 29 0.01976823 365 0.0460209887260274 2.033526 21 113 0.01223776 GO Biological Process regulation of DNA-templated transcription in response to stress 137 0.000003310597 0.0003179864665912408 2.618099 30 0.0204499 343 0.040835331061224486 2.022948 22 119 0.01282051 GO Biological Process lung epithelium development 193 0.00001999535 0.0013633098997409328 2.758378 23 0.01567825 374 0.04819283198395723 3.176799 9 31 0.005244755 GO Biological Process wound healing, spreading of epidermal cells 198 0.00002424959 0.0016116179535858586 5.395777 10 0.006816633 345 0.04113945847536232 5.471154 5 10 0.002913753 GO Biological Process trachea cartilage development 277 0.0001279333 0.0060775245296028875 4.88707 9 0.006134969 241 0.015306450517012446 6.838942 5 8 0.002913753 GO Biological Process animal organ regeneration 315 0.0002141185 0.00894471536984127 2.172244 27 0.01840491 319 0.03694953560721003 2.296534 17 81 0.00990676 GO Biological Process nephron tubule formation 413 0.0007465804 0.02378753385859564 2.478353 17 0.01158828 191 0.006244318223507853 4.863248 8 18 0.004662005 GO Biological Process trachea development 425 0.0008928193 0.027643786279294116 2.61176 15 0.01022495 215 0.008815324268372093 4.607287 8 19 0.004662005 GO Biological Process TOR signaling 472 0.001522922 0.04245790380932203 2.978829 11 0.007498296 229 0.013187783157641922 3.939231 9 25 0.005244755 GO Biological Process metanephric tubule development 484 0.001753337 0.04766975533677686 2.766939 12 0.008179959 296 0.030084959356756757 4.255342 7 18 0.004079254 GO Cellular Component myelin sheath 33 0.000001584639 0.00008297746036363637 2.269464 42 0.02862986 26 0.04924617230769231 1.891263 28 162 0.01631702 GO Molecular Function laminin binding 20 1.365788e-7 0.000028831784680000002 4.226889 20 0.01363327 13 0.008546010015384615 4.150531 11 29 0.006410256 GO Molecular Function extracellular matrix binding 34 0.000002628033 0.00032633986252941175 2.966193 25 0.01704158 15 0.009173952838666666 3.218326 15 51 0.008741259 Human Phenotype Abnormality of the hip joint 21 2.537172e-7 0.00008062166074285714 2.441188 42 0.02862986 2 0.0117022565925 2.479117 29 128 0.01689977 Human Phenotype Abnormality of the synovia 36 7.535237e-7 0.00013967399028055554 2.338643 42 0.02862986 3 0.017379953062666667 2.385917 29 133 0.01689977 Human Phenotype Hypotelorism 41 0.000001031763 0.0001679257194878049 3.047553 26 0.01772324 1 0.021064819252 4.031377 14 38 0.008158508 Human Phenotype Aplasia/Hypoplasia involving the vertebral column 55 0.000004846483 0.0005880105647090909 3.33389 20 0.01363327 6 0.029458848233333335 3.861991 12 34 0.006993007 Mouse Phenotype Single KO abnormal adaptive thermogenesis 11 5.363977e-10 4.465267035363637e-7 3.846039 31 0.02113156 160 0.03320844425875 2.641247 14 58 0.008158508 Mouse Phenotype Single KO cervical vertebral transformation 25 1.149203e-8 0.0000042093007484 4.938008 20 0.01363327 61 0.0027120782278688524 3.743421 13 38 0.007575758 Mouse Phenotype Single KO abnormal KLRG1-positive NK cell number 30 1.91317e-8 0.000005839632563333333 5.690751 17 0.01158828 198 0.04566838699242424 4.031377 7 19 0.004079254 Mouse Phenotype Single KO abnormal cervical atlas morphology 49 2.342452e-7 0.000043775169314285716 3.304475 26 0.01772324 153 0.032251091654248366 2.917949 12 45 0.006993007 Mouse Phenotype Single KO sacral vertebral transformation 57 3.720887e-7 0.00005977572326140351 8.727325 10 0.006816633 193 0.04315215373937824 4.68956 6 14 0.003496503 Mouse Phenotype Single KO abnormal occipital bone morphology 62 5.60871e-7 0.00008283702817741936 2.426657 40 0.02726653 107 0.01596990213738318 2.525148 18 78 0.01048951 Mouse Phenotype Single KO abnormal NK cell number 75 8.773872e-7 0.00010712312787199999 2.324427 42 0.02862986 154 0.0327547435987013 2.011454 25 136 0.01456876 Mouse Phenotype Single KO abnormal NK cell morphology 83 0.000001325267 0.00014621048095180724 2.235709 44 0.02999318 121 0.02062643764297521 2.037533 27 145 0.01573427 Mouse Phenotype Single KO abnormal cervical vertebrae morphology 88 0.00000176387 0.00018354269988636363 2.210559 44 0.02999318 64 0.00316257741328125 2.34478 27 126 0.01573427 Mouse Phenotype Single KO abnormal fetal cardiomyocyte morphology 95 0.000002791278 0.00026904981732631583 3.766044 18 0.01226994 117 0.01796187813076923 3.939231 9 25 0.005244755 Mouse Phenotype Single KO vertebral transformation 121 0.00000645616 0.0004885872489256198 2.628085 28 0.01908657 111 0.01653715427117117 2.378763 20 92 0.01165501 Mouse Phenotype Single KO dilated brain ventricles 143 0.00001122083 0.0007185254567132867 2.454257 30 0.0204499 54 0.0018647891351851853 2.970055 19 70 0.01107226 Mouse Phenotype Single KO abnormal basicranium morphology 155 0.00001534138 0.0009063291397419356 2.153002 38 0.0259032 76 0.004967053197631579 2.813736 18 70 0.01048951 Mouse Phenotype Single KO abnormal odontoid process morphology 157 0.00001621227 0.0009455780661783439 4.318382 13 0.008861622 145 0.028342923224827583 4.505656 7 17 0.004079254 Mouse Phenotype Single KO abnormal frontal bone morphology 173 0.00002319047 0.001227486322485549 2.162498 36 0.02453988 32 0.0005658917260625001 3.300061 19 63 0.01107226 Mouse Phenotype Single KO abnormal cervical axis morphology 178 0.00002570629 0.0013224297614044943 2.961862 20 0.01363327 62 0.002759953769516129 3.979021 12 33 0.006993007 Mouse Phenotype Single KO decreased KLRG1+ CD8 alpha beta T cell number 181 0.00002623967 0.001327495349116022 6.030085 9 0.006134969 201 0.04913737314427861 5.471154 5 10 0.002913753 Mouse Phenotype Single KO abnormal KLRG1+ CD8 alpha beta T cell number 188 0.00003071637 0.001496115957925532 5.244766 10 0.006816633 129 0.023326264960465116 5.471154 6 12 0.003496503 Mouse Phenotype Single KO abnormal gastric parietal cell morphology 203 0.00004281564 0.0019313439186206896 3.923938 13 0.008861622 126 0.02345250868968254 3.787722 9 26 0.005244755 Mouse Phenotype Single KO abnormal vitreous body morphology 205 0.00004391935 0.0019618023802439027 2.094816 36 0.02453988 148 0.030028735714864866 2.415834 17 77 0.00990676 Mouse Phenotype decreased CD4-positive, alpha-beta memory T cell number 3 1.515948e-12 4.831326276000001e-9 11.85852 16 0.01090661 312 0.017256860345192308 5.050296 6 13 0.003496503 Mouse Phenotype abnormal adaptive thermogenesis 4 4.508624e-12 1.0776738516e-8 3.728781 40 0.02726653 177 0.004051256061694915 2.698103 18 73 0.01048951 Mouse Phenotype extramedullary hematopoiesis 15 1.446187e-9 9.217995938000001e-7 2.486501 56 0.03817314 78 0.00034537408680769235 2.250989 36 175 0.02097902 Mouse Phenotype abnormal occipital bone morphology 30 1.380085e-8 0.000004398330895000001 2.494022 49 0.0334015 74 0.00027773064125675675 2.823821 24 93 0.01398601 Mouse Phenotype abnormal KLRG1-positive NK cell number 32 1.91317e-8 0.000005716193240625 5.690751 17 0.01158828 376 0.02510979238962766 4.031377 7 19 0.004079254 Mouse Phenotype decreased susceptibility to hepatic steatosis 37 2.722297e-8 0.000007034562599189189 3.235008 31 0.02113156 106 0.0012053525640566038 2.842158 20 77 0.01165501 Mouse Phenotype sacral vertebral transformation 47 5.427492e-8 0.0000110409044706383 9.266117 11 0.007498296 276 0.01137385913152174 4.168498 8 21 0.004662005 Mouse Phenotype abnormal cervical atlas morphology 49 5.812896e-8 0.000011342265031836734 3.361616 28 0.01908657 345 0.021248241691304348 2.683962 13 53 0.007575758 Mouse Phenotype abnormal aortic valve cusp morphology 51 6.477739e-8 0.000012143855407647058 3.909769 23 0.01567825 189 0.004684337586666667 3.455466 12 38 0.006993007 Mouse Phenotype small basisphenoid bone 63 1.609369e-7 0.000024424090490476188 4.61748 18 0.01226994 300 0.014303472716 4.505656 7 17 0.004079254 Mouse Phenotype hydroureter 64 2.017283e-7 0.0000301363168171875 2.887808 32 0.02181322 161 0.003221035576397516 3.882754 11 31 0.006410256 Mouse Phenotype abnormal basicranium morphology 85 6.989171e-7 0.00007861583991882353 2.139997 51 0.03476483 40 0.0000447794454525 3.026596 26 94 0.01515152 Mouse Phenotype abnormal dermal layer morphology 93 8.11824e-7 0.00008346074477419355 2.208865 47 0.03203817 465 0.03885074311612904 1.906614 23 132 0.01340326 Mouse Phenotype cervical vertebral transformation 96 0.000001003547 0.00009994700903125 3.710333 20 0.01363327 181 0.00417657071917127 3.30814 13 43 0.007575758 Mouse Phenotype abnormal body temperature 100 0.000001180427 0.00011286062547 2.270726 43 0.02931152 465 0.03885074311612904 1.906614 23 132 0.01340326 Mouse Phenotype decreased susceptibility to diet-induced obesity 102 0.00000123706 0.00011595618294117648 2.348494 40 0.02726653 229 0.006797090254585153 2.171093 25 126 0.01456876 Mouse Phenotype decreased susceptibility to weight gain 109 0.000001578015 0.00013841652674311927 2.175346 46 0.03135651 183 0.004328930835245902 2.115513 29 150 0.01689977 Mouse Phenotype dry eyes 111 0.000001683134 0.00014497697454054053 4.948612 14 0.009543286 266 0.01029936439962406 4.78726 7 16 0.004079254 Mouse Phenotype thoracic vertebral transformation 113 0.000001765695 0.0001493965477433628 3.572252 20 0.01363327 435 0.034769796351724135 2.495614 13 57 0.007575758 Mouse Phenotype increased energy expenditure 120 0.000002348827 0.000187142791225 2.121863 47 0.03203817 310 0.016839644342903224 1.926947 28 159 0.01631702