# 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 rostrocaudal neural tube patterning 87 5.424661e-12 8.204955643563218e-10 2.900418 57 0.004839942 871 0.033655434227324914 1.897712 11 12 0.001212789 GO Biological Process uterus development 104 4.206849e-10 5.322877499134615e-8 2.177578 80 0.006792901 748 0.013700874601737969 1.759697 17 20 0.001874311 GO Biological Process regulation of necrotic cell death 145 1.119269e-8 0.0000010157559152413793 2.995337 37 0.003141717 668 0.008047939994760478 1.686855 22 27 0.002425579 GO Biological Process hematopoietic stem cell differentiation 146 1.123704e-8 0.000001012795954520548 3.237881 33 0.002802072 585 0.003615807525982906 2.070232 12 12 0.001323043 GO Biological Process labyrinthine layer blood vessel development 277 0.000002069771 0.00009832533064620938 2.057843 52 0.004415386 877 0.03361893429760548 1.675902 17 21 0.001874311 GO Biological Process collagen-activated tyrosine kinase receptor signaling pathway 339 0.000007959978 0.0003089833348141593 2.469146 31 0.002632249 812 0.023152887769704433 2.070232 9 9 0.0009922822 GO Biological Process diol metabolic process 1005 0.001415591 0.018535086536318406 2.165778 20 0.001698225 871 0.033655434227324914 1.897712 11 12 0.001212789 GO Cellular Component zonula adherens 112 0.0008121464 0.012530258742857141 2.465695 17 0.001443492 109 0.04691076110091743 2.070232 8 8 0.0008820287 GO Molecular Function SUMO transferase activity 120 0.0002108178 0.00741727293 2.085496 30 0.002547338 137 0.042665929489051097 1.743353 16 19 0.001764057 Human Phenotype Diminished motivation 156 0.00009748202 0.004169855893974359 2.095016 33 0.002802072 145 0.03584100054275862 1.759697 17 20 0.001874311 Human Phenotype Abnormality of metacarpal epiphyses 470 0.00263089 0.03735304036170213 2.049733 20 0.001698225 140 0.03287678902071429 2.070232 10 10 0.001102536 Mouse Phenotype Single KO increased brown adipose tissue amount 16 4.174462e-9 0.000002389096783375 2.295883 63 0.00534941 910 0.04528379009560439 1.449162 28 40 0.0030871 Mouse Phenotype Single KO delayed sexual maturation 79 0.000001696124 0.00019660009453164557 2.056481 53 0.004500297 740 0.021109013383783782 1.61018 21 27 0.002315325 Mouse Phenotype Single KO abnormal midbrain-hindbrain boundary morphology 113 0.000005139993 0.0004165213796548672 2.054853 48 0.004075741 918 0.04502200644117647 1.774484 12 14 0.001323043 Mouse Phenotype Single KO fused dorsal root ganglion 117 0.000005974402 0.0004675863172136753 2.209231 40 0.003396451 323 0.0005124668272755417 2.070232 15 15 0.001653804 Mouse Phenotype Single KO absent tympanic ring 192 0.00002669801 0.0012733004040104167 2.086313 39 0.003311539 711 0.018400173680731362 2.070232 9 9 0.0009922822 Mouse Phenotype abnormal neuron specification 30 1.698676e-9 5.413680412e-7 2.300197 66 0.005604144 1373 0.04458913362563729 1.634393 15 19 0.001653804 Mouse Phenotype abnormal hippocampal fimbria morphology 69 1.336502e-7 0.000018519269017391303 2.205822 55 0.00467012 694 0.002214532872190202 2.070232 12 12 0.001323043 Mouse Phenotype absent Purkinje cell layer 76 1.600202e-7 0.000020130962265789473 2.607185 39 0.003311539 1000 0.013659714651 2.070232 9 9 0.0009922822 Mouse Phenotype delayed sexual maturation 97 4.817744e-7 0.00004748706225154639 2.0681 58 0.004924854 929 0.00916324490409042 1.60276 24 31 0.002646086 Mouse Phenotype decreased collagen level 136 0.000002641613 0.00018570927862500002 2.484563 34 0.002886983 1256 0.03435800919506369 1.774484 12 14 0.001323043 Mouse Phenotype abnormal midbrain-hindbrain boundary development 160 0.000005582613 0.00033359601808125 2.103865 45 0.003821007 1074 0.01983122322905028 1.897712 11 12 0.001212789 Mouse Phenotype abnormal conotruncus septation 182 0.00001013924 0.0005326443606593407 2.74942 25 0.002122782 1348 0.043467128906528193 2.070232 7 7 0.0007717751 Mouse Phenotype ectopic cortical neuron 188 0.00001099285 0.0005590565896276596 2.673382 26 0.002207693 1000 0.013659714651 2.070232 9 9 0.0009922822 Mouse Phenotype colon polyps 406 0.0002724108 0.006415073051231527 2.11338 28 0.002377515 1106 0.02151639079475588 1.794201 13 15 0.001433297 Mouse Phenotype abnormal heart apex morphology 629 0.001380138 0.02097853643561208 2.170564 20 0.001698225 1348 0.043467128906528193 2.070232 7 7 0.0007717751