# 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 cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation 25 9.860373e-10 5.19010593228e-7 4.108523 28 0.004291845 628 0.016644326685191082 3.28499 6 6 0.001049685 GO Biological Process cellular response to monosaccharide stimulus 30 1.425226e-9 6.251516311333334e-7 2.014362 90 0.01379522 247 0.00003044172160323887 1.95195 41 69 0.007172848 GO Biological Process cellular response to hexose stimulus 31 1.442518e-9 6.123256245806451e-7 2.022832 89 0.01364194 267 0.000055678193232209745 1.932347 40 68 0.006997901 GO Biological Process regulation of timing of cell differentiation 48 1.742868e-8 0.000004778000002500001 3.049688 35 0.005364807 506 0.0061151745426877464 2.737491 10 12 0.001749475 GO Biological Process regulation of development, heterochronic 52 2.260718e-8 0.0000057209208003846154 3.01675 35 0.005364807 618 0.015738206585760518 2.526915 10 13 0.001749475 GO Biological Process positive regulation of cyclic-nucleotide phosphodiesterase activity 64 6.909197e-8 0.000014205956769218752 6.51498 14 0.002145923 785 0.04376778949426752 3.28499 5 5 0.0008747376 GO Biological Process negative regulation of peptidyl-tyrosine phosphorylation 68 8.233565e-8 0.000015933159093382357 2.219696 56 0.008583691 775 0.04171290936258065 1.677441 24 47 0.00419874 GO Biological Process positive regulation of vascular permeability 134 0.000001377069 0.00013523023112686568 3.012007 26 0.003985285 576 0.01102600834375 2.919991 8 9 0.00139958 GO Biological Process preganglionic parasympathetic fiber development 236 0.0000242543 0.001352382769915254 2.1177 38 0.005824647 539 0.007517949099443413 2.463742 12 16 0.00209937 GO Biological Process dorsal spinal cord development 241 0.00002532989 0.0013830540353112033 2.137794 37 0.005671367 798 0.04622797924937343 2.033565 13 21 0.002274318 GO Biological Process positive regulation of mRNA catabolic process 243 0.00002635603 0.0014272386780658437 2.18675 35 0.005364807 586 0.012119463701194539 2.102393 16 25 0.00279916 GO Biological Process positive regulation of synapse maturation 369 0.0001462456 0.005215300407588076 2.365442 24 0.003678725 576 0.01102600834375 2.919991 8 9 0.00139958 GO Biological Process metanephric tubule morphogenesis 426 0.0003054939 0.009436606173943662 2.292429 23 0.003525445 720 0.032236168868055554 2.627992 8 10 0.00139958 GO Biological Process negative regulation of stem cell population maintenance 493 0.0006021274 0.016071794029614603 2.842142 14 0.002145923 628 0.016644326685191082 3.28499 6 6 0.001049685 GO Biological Process positive regulation of pri-miRNA transcription from RNA polymerase II promoter 508 0.000704457 0.018247932407480315 2.043801 26 0.003985285 336 0.00026523797360714286 2.627992 16 20 0.00279916 GO Biological Process endocardium development 510 0.0007153953 0.018458601475882352 2.04157 26 0.003985285 609 0.014032576096551725 2.687719 9 11 0.001574528 GO Biological Process commissural neuron axon guidance 523 0.000784156 0.01972984474952199 2.135815 23 0.003525445 432 0.002238652029513889 3.28499 8 8 0.00139958 GO Biological Process regulation of hepatic stellate cell activation 584 0.001103471 0.024863998097602737 3.331396 10 0.001532802 628 0.016644326685191082 3.28499 6 6 0.001049685 GO Biological Process photoperiodism 620 0.001359323 0.028850534446774195 2.126215 21 0.003218884 534 0.007187019487827716 2.239766 15 22 0.002624213 GO Biological Process metanephric tubule formation 749 0.002643042 0.046434966192256344 2.262131 16 0.002452483 628 0.016644326685191082 3.28499 6 6 0.001049685 GO Cellular Component cytoplasmic stress granule 29 0.00002743943 0.0016350115531034483 2.020023 42 0.006437768 52 0.004981006523076923 1.909878 25 43 0.004373688 GO Cellular Component nuclear transcriptional repressor complex 38 0.00007260079 0.0033014253978947373 2.100942 34 0.005211527 62 0.011721400258064516 2.038959 18 29 0.003149055 GO Cellular Component microvillus membrane 42 0.0001280752 0.005269379657142857 2.215548 28 0.004291845 92 0.04547481808695652 1.999559 14 23 0.002449265 GO Cellular Component neurofilament 88 0.002367413 0.04648738254545455 2.027444 21 0.003218884 44 0.0028862803636363634 3.28499 8 8 0.00139958 GO Molecular Function high voltage-gated calcium channel activity 28 0.000007737388 0.0011666875762857145 2.613044 28 0.004291845 88 0.011281634986363635 2.737491 10 12 0.001749475 Human Phenotype Hypotelorism 4 7.431819e-10 0.000001239813204675 2.134908 81 0.0124157 27 0.029083331337037038 1.988283 23 38 0.004023793 Human Phenotype Capillary malformation 35 0.000004280535 0.0008161145729999999 2.759421 27 0.004138565 24 0.0233416034775 2.779607 11 13 0.001924423 Human Phenotype Holoprosencephaly 52 0.00001675612 0.002150261322307692 2.107835 40 0.006131208 4 0.0032011815695 3.050347 13 14 0.002274318 Human Phenotype Adrenocortical carcinoma 74 0.00005497358 0.0049572797208108105 4.111138 12 0.001839362 33 0.04886061595454545 3.28499 7 7 0.001224633 Mouse Phenotype Single KO abnormal embryonic erythropoiesis 8 2.183389e-8 0.00002499161634125 2.502386 48 0.007357449 558 0.024858563695340504 1.925684 17 29 0.002974108 Mouse Phenotype Single KO abnormal embryonic erythrocyte morphology 9 2.782345e-8 0.00002830881462777778 2.381307 52 0.00797057 654 0.03894385290519878 1.78328 19 35 0.003324003 Mouse Phenotype Single KO abnormal thoracic cavity morphology 10 3.095121e-8 0.000028342022996999996 2.662027 42 0.006437768 524 0.020191621879770992 2.053118 15 24 0.002624213 Mouse Phenotype Single KO abnormal eye posterior chamber morphology 11 4.087975e-8 0.000034030533704545454 3.640677 26 0.003985285 480 0.015153570189374998 3.28499 6 6 0.001049685 Mouse Phenotype Single KO abnormal vascular endothelial cell differentiation 17 1.443409e-7 0.00007774880125294117 4.943667 17 0.002605763 635 0.037651377667716535 3.28499 5 5 0.0008747376 Mouse Phenotype Single KO abnormal prechordal plate morphology 26 4.879394e-7 0.00017184850329999998 5.524041 14 0.002145923 550 0.023618250521818183 2.874366 7 8 0.001224633 Mouse Phenotype Single KO abnormal adrenal medulla morphology 44 0.000001274048 0.0002651467621818182 2.709354 31 0.004751686 396 0.007266541974747475 2.372492 13 18 0.002274318 Mouse Phenotype Single KO absent notochord 62 0.000007104185 0.0010492422910483871 2.33296 35 0.005364807 473 0.014637414165539112 2.318816 12 17 0.00209937 Mouse Phenotype Single KO abnormal mesendoderm development 75 0.00001152471 0.0014070902596 3.396932 18 0.002759044 590 0.029368842571186438 2.463742 9 12 0.001574528 Mouse Phenotype Single KO abnormal axial mesoderm 76 0.00001237142 0.0014905933281578946 2.21274 37 0.005671367 683 0.04318618172767203 2.07473 12 19 0.00209937 Mouse Phenotype Single KO absent scala media 184 0.0002903881 0.014451542563586958 2.54022 19 0.002912324 635 0.037651377667716535 3.28499 5 5 0.0008747376 Mouse Phenotype Single KO absent cochlear ganglion 201 0.0003916245 0.01784132112686567 2.842553 15 0.002299203 635 0.037651377667716535 3.28499 5 5 0.0008747376 Mouse Phenotype Single KO absent inner ear 264 0.0008557008 0.029680500854545454 2.867597 13 0.001992643 635 0.037651377667716535 3.28499 5 5 0.0008747376 Mouse Phenotype Single KO abnormal central nervous system regeneration 293 0.001173086 0.03666194027986348 2.767101 13 0.001992643 435 0.010159723075862069 2.919991 8 9 0.00139958 Mouse Phenotype Single KO abnormal adrenal chromaffin cell morphology 310 0.00135665 0.040073690483870966 2.224756 19 0.002912324 456 0.013041278913157895 2.687719 9 11 0.001574528 Mouse Phenotype Single KO abnormal peritubular capillary morphology 323 0.001551493 0.04398458638080495 2.471721 15 0.002299203 635 0.037651377667716535 3.28499 5 5 0.0008747376 Mouse Phenotype abnormal pancreatic islet number 13 4.719295e-8 0.00003470859961153846 2.824215 37 0.005671367 1063 0.03594310892285983 1.801446 17 31 0.002974108 Mouse Phenotype abnormal eye posterior chamber morphology 21 2.048372e-7 0.00009325945091428572 3.170915 28 0.004291845 850 0.019839806135294114 2.627992 8 10 0.00139958 Mouse Phenotype athymia 22 2.111836e-7 0.00009177847270909089 2.41524 44 0.006744329 570 0.004146645956842105 2.147878 17 26 0.002974108 Mouse Phenotype abnormal embryonic erythropoiesis 37 8.880258e-7 0.00022947066685945945 2.195041 48 0.007357449 1063 0.03594310892285983 1.801446 17 31 0.002974108 Mouse Phenotype absent spleen germinal center 42 0.000001185482 0.00026986650957142857 2.831197 29 0.004445126 1181 0.04119871330567315 1.739112 18 34 0.003149055 Mouse Phenotype megacephaly 51 0.000003014866 0.0005651987024705883 2.362459 37 0.005671367 811 0.01743236734771887 2.135243 13 20 0.002274318 Mouse Phenotype increased large intestine adenocarcinoma incidence 52 0.000003113284 0.0005724251600769231 3.588687 19 0.002912324 1077 0.03639751966852367 2.189993 10 15 0.001749475 Mouse Phenotype abnormal thoracic cavity morphology 55 0.000003818953 0.0006638729024181818 2.134875 45 0.006897609 818 0.017705452525672374 1.925684 17 29 0.002974108 Mouse Phenotype increased bronchioalveolar stem cell number 66 0.000006137544 0.0008891069421818181 8.590629 8 0.001226242 958 0.026057886729645093 3.28499 5 5 0.0008747376 Mouse Phenotype abnormal adrenal medulla morphology 69 0.00000699272 0.0009689477669565217 2.302898 36 0.005518087 570 0.004146645956842105 2.147878 17 26 0.002974108 Mouse Phenotype pharyngeal arch hypoplasia 78 0.000009968764 0.001221940418 2.071673 44 0.006744329 425 0.0011578499229882354 2.463742 15 20 0.002624213 Mouse Phenotype abnormal vascular endothelial cell differentiation 92 0.0000214724 0.002231495830434783 3.010629 20 0.003065604 798 0.0169964267556391 2.874366 7 8 0.001224633 Mouse Phenotype abnormal thymus involution 109 0.00003763246 0.003300953670275229 2.344405 29 0.004445126 501 0.002401896862874252 2.28521 16 23 0.00279916 Mouse Phenotype abnormal mesendoderm development 139 0.00008208522 0.005646163945467626 2.204849 30 0.004598406 811 0.01743236734771887 2.135243 13 20 0.002274318 Mouse Phenotype dilated renal glomerular capsule 147 0.00009012817 0.005862009750816326 2.887864 18 0.002759044 872 0.020602102008027524 2.346421 10 14 0.001749475 Mouse Phenotype abnormal urine ammonia level 159 0.0001325393 0.00796986319056604 3.737428 12 0.001839362 1138 0.03944072130052724 2.554992 7 9 0.001224633 Mouse Phenotype increased colon adenocarcinoma incidence 161 0.0001393672 0.00827633415652174 3.139113 15 0.002299203 1126 0.03809854713143872 2.274224 9 13 0.001574528 Mouse Phenotype abnormal prechordal plate morphology 194 0.0002246094 0.011069538522680413 2.676573 18 0.002759044 1126 0.03809854713143872 2.274224 9 13 0.001574528 Mouse Phenotype absent scala media 208 0.0002903881 0.013348079923557694 2.54022 19 0.002912324 958 0.026057886729645093 3.28499 5 5 0.0008747376 Mouse Phenotype absent upper incisors 210 0.0002972944 0.013535389325714286 2.403751 21 0.003218884 798 0.0169964267556391 2.874366 7 8 0.001224633