# 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 stem cell differentiation 92 7.908017e-9 0.0000011311043011195652 2.180936 67 0.02624363 496 0.027975052381048388 1.583564 42 141 0.01189128 GO Biological Process neural precursor cell proliferation 143 9.159019e-7 0.00008428218952517483 2.030498 57 0.02232667 39 5.6129174643589743e-8 2.810019 37 70 0.01047565 GO Biological Process transforming growth factor beta receptor signaling pathway 163 0.000002713079 0.00021902703411656442 2.029696 52 0.02036819 289 0.0019362726314186849 1.943576 34 93 0.009626274 GO Biological Process positive regulation of epithelial to mesenchymal transition 169 0.000003335532 0.00025971754785798816 2.120166 46 0.01801802 293 0.002154286836757679 2.416478 20 44 0.005662514 GO Biological Process SMAD protein signal transduction 203 0.00001098497 0.000712074976502463 2.120331 41 0.01605954 190 0.00023441809666842106 2.424957 26 57 0.007361268 GO Biological Process positive regulation of mesonephros development 263 0.00004188626 0.0020957463701140686 2.568535 24 0.009400705 488 0.025006867440983606 2.658126 11 22 0.003114383 GO Biological Process positive regulation of cell-matrix adhesion 270 0.00004726937 0.0023037690364074077 2.173647 33 0.01292597 495 0.02795707972323232 2.080272 18 46 0.005096263 GO Biological Process negative regulation of stem cell differentiation 271 0.00004727138 0.002295365643616236 3.03837 18 0.007050529 223 0.0006791519224215247 3.544168 12 18 0.003397508 GO Biological Process positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay 277 0.00005231037 0.0024850258441516246 3.271885 16 0.006267137 353 0.005361614047308781 3.322657 10 16 0.002831257 GO Biological Process regulation of mesonephros development 278 0.00005293919 0.002505851802913669 2.376843 27 0.01057579 397 0.010584754880604534 2.658126 13 26 0.003680634 GO Biological Process paraxial mesoderm development 289 0.00006640624 0.003023666824083045 2.855481 19 0.007442225 285 0.0019053797983859648 3.439927 11 17 0.003114383 GO Biological Process positive regulation of morphogenesis of an epithelium 296 0.0000749004 0.003329778255405406 2.212525 30 0.01175088 388 0.009390855911597938 2.491993 15 32 0.004246886 GO Biological Process positive regulation of stem cell proliferation 352 0.0001646619 0.0061556418809659095 2.005225 34 0.01331767 545 0.04295095185504587 2.155237 15 37 0.004246886 GO Biological Process paraxial mesoderm morphogenesis 377 0.000257795 0.008998207970822281 2.837059 16 0.006267137 295 0.002170627455661017 4.253001 8 10 0.002265006 GO Biological Process cell proliferation in forebrain 419 0.0004069322 0.012780001956563244 2.086279 27 0.01057579 140 0.00005097033378 3.347269 17 27 0.004813137 GO Biological Process positive regulation of neuroblast proliferation 426 0.0004479991 0.013838544969248827 2.182191 24 0.009400705 447 0.01643126354362416 2.784703 11 21 0.003114383 GO Biological Process mesenchymal to epithelial transition 459 0.0005672477 0.0162623365671024 2.39828 19 0.007442225 353 0.005361614047308781 3.322657 10 16 0.002831257 GO Biological Process regulation of endothelial cell apoptotic process 461 0.000573423 0.016368054787418655 2.105364 25 0.009792401 431 0.014312919121577726 2.259407 17 40 0.004813137 GO Biological Process positive regulation of nuclear-transcribed mRNA poly(A) tail shortening 467 0.0005978287 0.01684545581006424 3.61427 10 0.00391696 521 0.033831586942418425 3.383069 7 11 0.00198188 GO Biological Process somatic stem cell division 490 0.0006844797 0.018381772188367347 2.199036 22 0.008617313 366 0.0067928915213114754 2.899773 12 22 0.003397508 GO Molecular Function transforming growth factor beta receptor binding 30 0.00001886071 0.0026543305873333333 2.163635 37 0.01449275 44 0.028137691718181815 2.169899 20 49 0.005662514 Human Phenotype Broad palm 22 0.000008075696 0.0024495054276363636 3.114774 21 0.008225617 154 0.023539384481168834 2.953473 10 18 0.002831257 Mouse Phenotype Single KO abnormal fourth pharyngeal arch morphology 53 0.000003301289 0.0005703755353396227 2.794467 27 0.01057579 145 0.0010145589719999998 3.291013 13 21 0.003680634 Mouse Phenotype Single KO abnormal mesangial matrix morphology 73 0.00001034661 0.0012978617502739725 2.565738 28 0.01096749 316 0.015706877495253166 2.29892 16 37 0.004530011 Mouse Phenotype Single KO abnormal pulmonary valve cusp morphology 108 0.00003652186 0.0030965802964814815 2.804476 21 0.008225617 170 0.002886167897647059 3.189751 12 20 0.003397508 Mouse Phenotype Single KO expanded mesangial matrix 140 0.0000863963 0.005650935136428572 2.396537 25 0.009792401 377 0.021865990584350133 2.278393 15 35 0.004246886 Mouse Phenotype Single KO abnormal fourth pharyngeal arch artery morphology 154 0.0001220158 0.007255186237662338 2.568586 21 0.008225617 221 0.00595947918597285 3.322657 10 16 0.002831257 Mouse Phenotype Single KO failure of somite differentiation 166 0.0001871776 0.01032521254939759 2.321803 24 0.009400705 326 0.01581286095245399 2.17483 18 44 0.005096263 Mouse Phenotype Single KO abnormal supraoccipital bone morphology 210 0.0004732759 0.020637082934761904 2.06517 27 0.01057579 276 0.01059479498115942 2.658126 13 26 0.003680634 Mouse Phenotype Single KO caudal body truncation 219 0.0005458304 0.022822689373515982 2.045276 27 0.01057579 263 0.009878007556653991 2.278393 18 42 0.005096263 Mouse Phenotype Single KO abnormal third pharyngeal arch artery morphology 230 0.0006303662 0.025096796927826088 2.964166 13 0.005092049 522 0.0472466817394636 3.101147 7 12 0.00198188 Mouse Phenotype Single KO decreased paraxial mesoderm size 231 0.0006380341 0.025292113652380953 3.911773 9 0.003525264 238 0.008025644955042016 4.134862 7 9 0.00198188 Mouse Phenotype Single KO abnormal mammary gland embryonic development 234 0.0006516431 0.025500409686752133 2.513185 17 0.006658833 478 0.04204800531171548 3.544168 6 9 0.001698754 Mouse Phenotype Single KO abnormal ureter development 263 0.0008227259 0.0286452512026616 2.386793 18 0.007050529 131 0.0007766715757251908 4.34966 9 11 0.002548131 Mouse Phenotype Single KO abnormal aortic arch and aortic arch branch attachment 278 0.001012487 0.033350156327338135 2.019939 25 0.009792401 179 0.00336013915273743 2.658126 16 32 0.004530011 Mouse Phenotype Single KO abnormal T cell clonal deletion 284 0.001071622 0.03455226286619718 4.010854 8 0.003133568 399 0.027286850205513784 4.43021 5 6 0.001415629 Mouse Phenotype Single KO absent somites 292 0.001168064 0.036630007013698625 2.252114 19 0.007442225 410 0.028530844580487803 2.215105 15 36 0.004246886 Mouse Phenotype Single KO abnormal forelimb bud morphology 295 0.001241712 0.03854358231864407 2.527569 15 0.005875441 135 0.0007919909648888889 4.725557 8 9 0.002265006 Mouse Phenotype Single KO abnormal third pharyngeal arch morphology 313 0.001454024 0.042538331527156546 2.486266 15 0.005875441 439 0.03414632784738041 2.814486 9 17 0.002548131 Mouse Phenotype Single KO enlarged allantois 333 0.001726254 0.047469393027027025 2.534933 14 0.005483745 221 0.00595947918597285 3.322657 10 16 0.002831257 Mouse Phenotype abnormal B cell apoptosis 55 2.090071e-7 0.00003633303423818182 2.261418 50 0.0195848 443 0.005648388444243792 1.939713 27 74 0.007644394 Mouse Phenotype abnormal vagina morphology 108 0.000007503357 0.0006642555210833333 2.000628 49 0.01919311 364 0.002775915524175824 2.063023 26 67 0.007361268 Mouse Phenotype abnormal pulmonary valve cusp morphology 117 0.00001388738 0.0011348482066666668 2.83048 23 0.009009009 378 0.002875521337301587 2.756575 14 27 0.00396376 Mouse Phenotype increased B cell apoptosis 121 0.00001596061 0.0012611520017355373 2.237419 35 0.01370936 327 0.0018337196864220185 2.32586 21 48 0.00594564 Mouse Phenotype testicular hyperplasia 124 0.0000168684 0.0013006352612903226 2.202459 36 0.01410106 688 0.024266832466569768 1.892225 21 59 0.00594564 Mouse Phenotype abnormal vagina orifice morphology 137 0.00002407917 0.0016804448494160582 2.191982 35 0.01370936 814 0.0420682707972973 1.97814 16 43 0.004530011 Mouse Phenotype Leydig cell hyperplasia 153 0.00004172204 0.002607218460392157 2.219257 32 0.01253427 740 0.0333720632472973 1.905826 19 53 0.005379388 Mouse Phenotype abnormal fourth pharyngeal arch morphology 160 0.00005207309 0.0031116925843125 2.224801 31 0.01214258 299 0.0012717322726755853 2.743872 16 31 0.004530011 Mouse Phenotype decreased type II pneumocyte number 163 0.00005490432 0.003220492046134969 3.83203 13 0.005092049 479 0.00743430625052192 3.544168 8 12 0.002265006 Mouse Phenotype failure of somite differentiation 187 0.00007649639 0.003911133608502673 2.117782 33 0.01292597 519 0.010223743097687862 1.972158 23 62 0.006511891 Mouse Phenotype abnormal mesangial matrix morphology 195 0.00009141243 0.004482021760153846 2.155059 31 0.01214258 664 0.02218455820933735 1.980564 19 51 0.005379388 Mouse Phenotype abnormal pituitary diverticulum morphology 197 0.00009424297 0.0045738935846192895 2.019565 36 0.01410106 348 0.002198299737413793 2.404971 19 42 0.005379388 Mouse Phenotype abnormal adenohypophysis development 210 0.0001086617 0.0049472119699999996 2.004563 36 0.01410106 380 0.0029744547765789475 2.349041 19 43 0.005379388 Mouse Phenotype abnormal supraoccipital bone morphology 224 0.0001300344 0.0055502629392857146 2.142062 30 0.01175088 333 0.0018858891616216217 2.658126 16 32 0.004530011 Mouse Phenotype decreased thyroid-stimulating hormone level 230 0.0001491439 0.006199847077826086 2.358614 24 0.009400705 373 0.00286388604772118 2.879636 13 24 0.003680634 Mouse Phenotype small limb buds 234 0.0001645277 0.0067224330756410254 2.342679 24 0.009400705 463 0.006609213678401727 2.923938 11 20 0.003114383 Mouse Phenotype abnormal ureter development 238 0.0001791658 0.007197496696638656 2.201815 27 0.01057579 572 0.014493381165209792 2.551801 12 25 0.003397508 Mouse Phenotype absent somites 266 0.0002455812 0.008827074636090226 2.194232 26 0.0101841 577 0.014563464331715773 2.061404 19 49 0.005379388 Mouse Phenotype abnormal forelimb bud morphology 288 0.0003374762 0.011203506764583333 2.505594 19 0.007442225 88 0.000002256967487045455 4.907309 12 13 0.003397508 Mouse Phenotype expanded mesangial matrix 332 0.0005512576 0.015875222631325302 2.013891 28 0.01096749 728 0.031954306656593406 1.952909 18 49 0.005096263