# 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 neural tube patterning 2 0.000002031029 0.013363155305499998 6.322199 11 0.03107345 4 0.013716948179500001 8.181699 8 34 0.01481481 GO Biological Process cell fate commitment 5 0.0000091876 0.02417992568 2.313465 33 0.09322034 1 0.00056908700982 3.676358 24 227 0.04444444 Human Phenotype Zonular cataract 1 1.916855e-14 1.2791173415e-10 17.87766 15 0.04237288 1 0.0058465182542 12.17028 7 20 0.01296296 Human Phenotype Abnormal number of incisors 9 3.141016e-9 0.000002328888863111111 12.17743 11 0.03107345 3 0.04565259547 13.37393 5 13 0.009259259 Mouse Phenotype Single KO abnormal presphenoid bone morphology 9 5.671695e-11 5.7706345683333336e-8 9.117019 16 0.04519774 37 0.03680242847567568 7.194253 6 29 0.01111111 Mouse Phenotype Single KO abnormal basicranium morphology 11 1.212373e-10 1.0092454146363638e-7 5.400271 23 0.06497175 1 0.00077326085046 6.457698 13 70 0.02407407 Mouse Phenotype Single KO abnormal basisphenoid bone morphology 13 3.015417e-10 2.124013343769231e-7 6.437473 19 0.05367232 12 0.002264693978333333 7.277907 9 43 0.01666667 Mouse Phenotype Single KO abnormal sphenoid bone morphology 18 3.696983e-9 0.0000018807374072777778 4.502576 23 0.06497175 4 0.000531322334125 5.94788 13 76 0.02407407 Mouse Phenotype Single KO abnormal frontal bone morphology 28 4.045348e-8 0.000013229732727142856 4.729701 19 0.05367232 28 0.024451626416071428 4.96746 9 63 0.01666667 Mouse Phenotype Single KO abnormal incisor morphology 44 0.000002607761 0.0005427106244772727 3.734542 18 0.05084746 3 0.0005378379211666667 5.59553 14 87 0.02592593 Mouse Phenotype Single KO absent upper incisors 48 0.000005569369 0.0010624731652708332 14.08131 6 0.01694915 20 0.010117844009999998 19.86984 4 7 0.007407407 Mouse Phenotype Single KO small cerebellum 49 0.000005864467 0.0010959372310000001 3.371801 19 0.05367232 17 0.006831795308823529 4.535507 12 92 0.02222222 Mouse Phenotype Single KO abnormal neurocranium morphology 52 0.000008370152 0.0014739515743076924 2.446622 30 0.08474576 13 0.004262925126538461 3.161111 20 220 0.03703704 Mouse Phenotype Single KO abnormal viscerocranium morphology 54 0.000009320183 0.0015804614024259257 2.01537 44 0.1242938 2 0.0007238233063 2.758373 33 416 0.06111111 Mouse Phenotype Single KO abnormal jaw morphology 62 0.00004232536 0.006251182605161289 2.009127 38 0.1073446 9 0.002074490879 2.704506 28 360 0.05185185 Mouse Phenotype Single KO abnormal tooth morphology 82 0.000303281 0.03386761118292683 2.363532 21 0.05932203 18 0.008001768141666667 3.320943 17 178 0.03148148 Mouse Phenotype small basisphenoid bone 5 2.503542e-11 4.7872730124e-8 13.81983 13 0.03672316 57 0.015044480073157894 10.22712 5 17 0.009259259 Mouse Phenotype abnormal presphenoid bone morphology 7 1.169185e-10 1.5969396835714286e-7 7.935742 17 0.0480226 51 0.009797126704705882 6.954444 7 35 0.01296296 Mouse Phenotype abnormal basisphenoid bone morphology 10 1.591693e-9 0.0000015218176773 4.934484 22 0.06214689 10 0.00010781031405000001 6.954444 12 60 0.02222222 Mouse Phenotype abnormal basicranium morphology 14 7.121453e-9 0.000004863443723785714 4.173315 24 0.06779661 9 0.00007647045025333333 5.548759 15 94 0.02777778 Mouse Phenotype abnormal sphenoid bone morphology 19 1.594613e-8 0.000008024260470000001 3.727772 26 0.07344633 4 0.0000523771897125 5.619753 16 99 0.02962963 Mouse Phenotype abnormal maternal nurturing 33 9.371534e-7 0.0002715188987090909 3.287419 23 0.06497175 56 0.014092282291071428 3.531554 13 128 0.02407407 Mouse Phenotype abnormal frontal bone morphology 34 0.000001140489 0.0003207122155588236 3.783293 19 0.05367232 121 0.04939445698760331 3.770482 9 83 0.01666667 Mouse Phenotype abnormal maternal behavior 37 0.000002743955 0.0007090528041891893 3.080119 23 0.06497175 73 0.0200564633260274 3.323815 13 136 0.02407407 Mouse Phenotype abnormal floor plate morphology 45 0.000009153188 0.0019447473437333332 5.380726 11 0.03107345 105 0.042945853945714284 4.96746 7 49 0.01296296 Mouse Phenotype absent upper incisors 47 0.00001014496 0.002063743884255319 12.65704 6 0.01694915 44 0.0093851015025 17.38611 4 8 0.007407407 Mouse Phenotype absent intervertebral disk 49 0.00001132228 0.002209231001632653 9.555207 7 0.01977401 80 0.0227120359875 12.64444 4 11 0.007407407 Mouse Phenotype decreased bone marrow cell number 62 0.00005239932 0.008080482234193548 2.972536 18 0.05084746 103 0.04245422812135923 2.97394 13 152 0.02407407 Mouse Phenotype abnormal neurocranium morphology 64 0.00006133017 0.009162152427656249 2.098999 33 0.09322034 20 0.00086921871495 3.001918 24 278 0.04444444 Mouse Phenotype abnormal notochord morphology 69 0.00007265601 0.010067595820434783 3.471656 14 0.03954802 27 0.0017227682611111112 4.96746 12 84 0.02222222 Mouse Phenotype abnormal parental behavior 71 0.00007306224 0.009838705304788734 2.434904 24 0.06779661 120 0.043942116974999994 2.781778 14 175 0.02592593 Mouse Phenotype abnormal incisor morphology 74 0.00008338569 0.010773656514729729 2.863894 18 0.05084746 15 0.00026402433792 4.874611 15 107 0.02777778 Mouse Phenotype abnormal bone marrow cell number 89 0.0002067663 0.02221227634044944 2.43343 21 0.05932203 112 0.043615480775892855 2.5877 16 215 0.02962963 Mouse Phenotype abnormal mesocardium morphology 90 0.0002108962 0.022404206313333334 14.12305 4 0.01129944 35 0.006462356388 34.77222 3 3 0.005555556 Mouse Phenotype abnormal vein development 94 0.0002581419 0.02625632665851064 3.435323 12 0.03389831 24 0.0008786750220000001 5.88453 11 65 0.02037037 Mouse Phenotype small cerebellum 95 0.0002666693 0.026838159761052634 2.386914 21 0.05932203 47 0.009251783020212765 3.343483 15 156 0.02777778