# 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 liver development 32 2.034106e-9 8.364625266875001e-7 3.214441 36 0.04918033 143 0.02692348883986014 2.687059 16 123 0.01760176 GO Biological Process hepaticobiliary system development 38 3.882116e-9 0.0000013443359064210527 3.133865 36 0.04918033 157 0.03231546150509554 2.623081 16 126 0.01760176 GO Biological Process neural tube patterning 75 4.687861e-8 0.000008225008386533333 5.003112 18 0.02459016 51 0.006352840095294118 5.467967 9 34 0.00990099 GO Biological Process extracellular matrix organization 102 2.134077e-7 0.000027531685532352938 2.208365 51 0.06967213 37 0.005642593425945946 2.220434 33 307 0.03630363 GO Biological Process extracellular structure organization 103 2.138162e-7 0.000027316576464077673 2.208222 51 0.06967213 40 0.00558148525275 2.213225 33 308 0.03630363 GO Biological Process ossification 122 6.670457e-7 0.00007194798660901639 2.162811 49 0.06693989 88 0.011773150942954546 2.23989 27 249 0.02970297 GO Biological Process post-anal tail morphogenesis 125 8.186351e-7 0.0000861793542472 6.997771 11 0.01502732 112 0.016714702789285715 6.885589 6 18 0.00660066 GO Biological Process dorsal/ventral neural tube patterning 158 0.000004305149 0.0003585535170316456 5.320961 12 0.01639344 96 0.013553743956145834 7.290623 6 17 0.00660066 GO Biological Process positive regulation of endothelial cell apoptotic process 173 0.000008476788 0.0006447748745202312 6.957407 9 0.01229508 54 0.006627201375000001 8.8529 6 14 0.00660066 GO Biological Process TORC1 signaling 178 0.00001026563 0.0007589068829775281 12.67246 6 0.008196721 145 0.029636100838620692 10.32838 4 8 0.00440044 GO Biological Process signal transduction involved in regulation of gene expression 199 0.00002445176 0.0016168879891457287 4.857847 11 0.01502732 20 0.0014407828576999998 8.262706 8 20 0.00880088 GO Biological Process positive regulation of neural precursor cell proliferation 229 0.0000599783 0.0034465259812227074 3.217203 16 0.02185792 90 0.012013864343 4.303493 10 48 0.0110011 GO Biological Process regulation of mesoderm development 249 0.00009597575 0.005072067848393574 5.069401 9 0.01229508 206 0.04691199469660194 6.455239 5 16 0.00550055 GO Biological Process osteoblast development 254 0.0001080101 0.005595688605905512 4.486093 10 0.0136612 96 0.013553743956145834 7.290623 6 17 0.00660066 GO Biological Process cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation 266 0.0001425979 0.007054307391353385 7.846605 6 0.008196721 86 0.011579829723139536 13.77118 4 6 0.00440044 GO Biological Process regulation of neural precursor cell proliferation 288 0.0002152786 0.009836288532638888 2.446993 21 0.02868852 45 0.0058264455206666664 3.707625 14 78 0.01540154 GO Biological Process mesoderm development 289 0.000224177 0.010207422640138408 2.120691 28 0.03825137 47 0.005802791424893617 3.072907 18 121 0.01980198 GO Biological Process canonical Wnt signaling pathway 303 0.0002755847 0.011968379760066006 2.292764 23 0.03142077 69 0.008256408583043478 3.296292 15 94 0.01650165 GO Biological Process positive regulation of cerebellar granule cell precursor proliferation 312 0.0003100094 0.01307504389294872 6.779077 6 0.008196721 145 0.029636100838620692 10.32838 4 8 0.00440044 GO Biological Process myoblast fusion 341 0.0004852806 0.01872670796304985 4.529794 8 0.01092896 141 0.025506565663829785 6.19703 6 20 0.00660066 Mouse Phenotype Single KO neonatal lethality, incomplete penetrance 74 4.909535e-8 0.000006075217837162162 2.159912 59 0.08060109 70 0.04169015965857143 2.058054 27 271 0.02970297 Mouse Phenotype Single KO absent tail 116 0.000001390665 0.00010977861556034482 7.505237 10 0.0136612 37 0.0235459855927027 9.389439 5 11 0.00550055 Mouse Phenotype Single KO absent limbs 157 0.0000183208 0.0010685577426751591 6.303277 9 0.01229508 18 0.006629820616666667 12.91048 5 8 0.00550055 Mouse Phenotype Single KO absent hindlimb 162 0.00002216305 0.0012527595608024691 7.144668 8 0.01092896 27 0.008898118044074074 16.52541 4 5 0.00440044 Mouse Phenotype Single KO abnormal cranial suture morphology 202 0.00009861065 0.004470186742821782 2.753144 19 0.02595628 48 0.031816015577083336 3.972455 10 52 0.0110011 Mouse Phenotype Single KO abnormal maxilla morphology 203 0.000102108 0.004605925891625616 2.067735 33 0.04508197 13 0.003429692364153846 3.270655 19 120 0.02090209 Mouse Phenotype Single KO abnormal talus morphology 234 0.0002526525 0.009886918557692307 5.808236 7 0.009562842 50 0.031096695835999996 11.80387 4 7 0.00440044 Mouse Phenotype Single KO abnormal frontal bone morphology 257 0.0003685664 0.013132149901945524 2.407699 20 0.0273224 55 0.032747313347272725 3.606737 11 63 0.01210121 Mouse Phenotype Single KO increased Purkinje cell number 278 0.0006604368 0.021754027976978417 10.42877 4 0.005464481 41 0.025259048480487805 20.65677 3 3 0.00330033 Mouse Phenotype Single KO abnormal osteoblast cell number 325 0.001388226 0.03911380148307692 2.586815 14 0.01912568 62 0.03356690351612903 3.550382 11 64 0.01210121 Mouse Phenotype Single KO small maxilla 327 0.001402271 0.03926787629051988 2.401436 16 0.02185792 14 0.003713777673071429 5.164191 11 44 0.01210121 Mouse Phenotype hydroureter 16 3.963337e-14 2.3683415660625e-11 5.606594 31 0.04234973 141 0.03908773451702128 4.664431 7 31 0.00770077 Mouse Phenotype small basisphenoid bone 46 2.849492e-10 5.922607176521738e-8 8.225674 16 0.02185792 69 0.01370130236826087 7.290623 6 17 0.00660066 Mouse Phenotype hydronephrosis 64 3.804193e-9 5.68310769890625e-7 3.020541 38 0.05191257 145 0.041363319109655176 2.603794 15 119 0.01650165 Mouse Phenotype small alisphenoid bone 83 3.840027e-8 0.000004423433511686747 6.233738 15 0.0204918 158 0.04444004235759494 6.455239 5 16 0.00550055 Mouse Phenotype abnormal presphenoid bone morphology 87 4.464025e-8 0.000004905809543103448 4.515032 20 0.0273224 40 0.0075842465182499996 5.31174 9 35 0.00990099 Mouse Phenotype abnormal squamosal bone morphology 94 8.930571e-8 0.000009083530779893617 4.321515 20 0.0273224 104 0.024254528665384616 4.590392 8 36 0.00880088 Mouse Phenotype abnormal small intestinal crypt cell proliferation 99 1.444538e-7 0.00001395073516969697 8.366404 11 0.01502732 130 0.03560836325769231 5.633663 6 22 0.00660066 Mouse Phenotype abnormal pterygoid bone morphology 102 1.802358e-7 0.00001689445572352941 6.536861 13 0.01775956 44 0.009445911635454544 8.262706 6 15 0.00660066 Mouse Phenotype abnormal ureter morphology 106 1.993049e-7 0.00001797692593301887 2.279937 48 0.06557377 162 0.04546044213703704 2.15817 21 201 0.02310231 Mouse Phenotype abnormal lung saccule morphology 113 3.035407e-7 0.000025682766661061945 4.182151 19 0.02595628 138 0.03913606901304348 4.131353 8 40 0.00880088 Mouse Phenotype abnormal alisphenoid bone morphology 123 5.529745e-7 0.000042983651987804875 4.215125 18 0.02459016 81 0.016253688196296297 5.007701 8 33 0.00880088 Mouse Phenotype abnormal mesenchymal cell proliferation involved in lung development 169 0.000004027294 0.0002278399877751479 5.356644 12 0.01639344 69 0.01370130236826087 7.290623 6 17 0.00660066 Mouse Phenotype spina bifida 205 0.00001881834 0.0008776690182439023 2.685937 24 0.03278689 36 0.006784297035833334 3.442794 15 90 0.01650165 Mouse Phenotype abnormal loop of Henle morphology 209 0.0000221326 0.0010124870267942583 7.146066 8 0.01092896 99 0.023597842115151514 7.94491 5 13 0.00550055 Mouse Phenotype abnormal palatine bone morphology 241 0.00005260401 0.00208691676186722 2.9962 18 0.02459016 131 0.036679586848854966 3.7941 9 49 0.00990099 Mouse Phenotype abnormal basicranium morphology 264 0.00009892347 0.0035826033964772726 2.270523 27 0.03688525 24 0.0041863396225 3.516045 16 94 0.01760176 Mouse Phenotype abnormal maxillary shelf morphology 291 0.0001750843 0.0057525120010309275 2.925485 16 0.02185792 169 0.04869448981420118 4.381738 7 33 0.00770077 Mouse Phenotype abnormal basisphenoid bone morphology 298 0.0002168947 0.00695882626409396 2.386349 22 0.03005464 76 0.01571888785263158 3.787074 11 60 0.01210121 Mouse Phenotype abnormal pancreas development 309 0.0002498658 0.007731284510679612 2.555247 19 0.02595628 83 0.01621173527349398 4.050346 10 51 0.0110011 Mouse Phenotype absent hindlimb 323 0.0003089592 0.009145383626006191 4.32097 9 0.01229508 64 0.014213097263906248 9.389439 5 11 0.00550055