# 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 midbrain-hindbrain boundary development 85 5.671203e-23 8.77968944435294e-21 4.139125 73 0.004705731 1168 0.03411036998715754 1.904554 9 9 0.0009128715 GO Biological Process preganglionic parasympathetic fiber development 144 3.554291e-15 3.2479802270138893e-13 2.413995 103 0.006639593 849 0.007967067726855124 1.78552 15 16 0.001521452 GO Biological Process parasympathetic nervous system development 150 1.284565e-14 1.1269060556666667e-12 2.269801 112 0.007219751 738 0.0028182673093495934 1.798746 17 18 0.001724313 GO Biological Process negative regulation of Notch signaling pathway 162 8.457425e-14 6.869830591049383e-12 2.311499 101 0.006510668 693 0.0019263446808080809 1.615985 28 33 0.002840045 GO Biological Process corpus callosum development 187 1.668571e-12 1.1741564593048129e-10 2.732027 66 0.004254496 944 0.01285690616059322 1.777584 14 15 0.001420022 GO Biological Process placenta blood vessel development 208 1.183274e-11 7.485914695192308e-10 2.108381 102 0.006575131 1225 0.041510575746938776 1.474494 24 31 0.002434324 GO Biological Process negative regulation of stem cell differentiation 257 1.732792e-10 8.872299582879378e-9 2.222353 80 0.005156965 738 0.0028182673093495934 1.798746 17 18 0.001724313 GO Biological Process positive regulation of pri-miRNA transcription from RNA polymerase II promoter 345 5.519302e-9 2.1051737686376811e-7 2.214921 67 0.004318958 1121 0.030182297060660123 1.618871 17 20 0.001724313 GO Biological Process positive regulation of metanephros development 426 6.367854e-8 0.0000019670091733802815 2.08474 66 0.004254496 1031 0.02104038585645005 1.768515 13 14 0.001318592 GO Biological Process positive regulation of pseudopodium assembly 677 0.000004630187 0.00008999797744903987 2.318712 37 0.002385096 1154 0.033448900870017326 1.75805 12 13 0.001217162 GO Biological Process diacylglycerol metabolic process 1375 0.0008347666 0.007988868137745455 2.020337 26 0.001676014 1206 0.04124964605306799 1.666485 14 16 0.001420022 Human Phenotype Holoprosencephaly 3 2.896687e-11 6.443197450333333e-8 2.127482 96 0.006188358 230 0.0478280602 1.768515 13 14 0.001318592 Mouse Phenotype Single KO abnormal vertebral body morphology 17 5.839641e-23 3.145505449235294e-20 2.161065 205 0.01321472 333 0.00005666967566366367 1.587129 45 54 0.004564357 Mouse Phenotype Single KO abnormal neuromere morphology 70 2.10856e-13 2.7582977028571432e-11 2.343279 95 0.006123896 630 0.002297356125238095 1.798746 17 18 0.001724313 Mouse Phenotype Single KO abnormal rhombomere morphology 86 1.628322e-12 1.7337842504651163e-10 2.341215 88 0.005672662 700 0.003734466606428571 1.792522 16 17 0.001622883 Mouse Phenotype Single KO small basisphenoid bone 106 1.878632e-11 1.6228899267924528e-9 2.279045 84 0.005414813 670 0.0031385713170149258 1.904554 13 13 0.001318592 Mouse Phenotype Single KO abnormal prechordal plate morphology 119 6.820496e-11 5.248343014453781e-9 4.646277 28 0.001804938 1248 0.04232586987660256 1.904554 8 8 0.0008114413 Mouse Phenotype Single KO abnormal midbrain-hindbrain boundary development 126 1.724956e-10 1.253604927936508e-8 2.697381 55 0.003545414 1104 0.025112533365036233 1.904554 9 9 0.0009128715 Mouse Phenotype Single KO abnormal midbrain-hindbrain boundary morphology 137 3.804886e-10 2.5431635840875913e-8 2.307473 71 0.004576807 964 0.015659058935684648 1.768515 13 14 0.001318592 Mouse Phenotype Single KO abnormal basioccipital bone morphology 147 6.556503e-10 4.084210746326531e-8 2.016642 94 0.006059434 795 0.007427231181761007 1.611546 22 26 0.002231464 Mouse Phenotype Single KO enhanced wound healing 199 8.137331e-9 3.7443989933165825e-7 2.254634 63 0.00406111 862 0.009966938774593967 1.644842 19 22 0.001927173 Mouse Phenotype Single KO small superior vagus ganglion 297 1.663281e-7 0.000005128169736363636 2.028085 66 0.004254496 1189 0.03349094580487805 1.558272 18 22 0.001825743 Mouse Phenotype Single KO abnormal Peyer's patch follicle morphology 362 0.000001218199 0.000030815050395027624 2.034884 56 0.003609876 1180 0.03330183615254237 1.523643 20 25 0.002028603 Mouse Phenotype Single KO abnormal thymus development 376 0.000001703737 0.00004149233965159575 2.089716 51 0.003287565 773 0.006089155048253558 1.78552 15 16 0.001521452 Mouse Phenotype Single KO abnormal brown fat cell size 731 0.0001171874 0.0014679685660738716 2.515933 22 0.001418165 1248 0.04232586987660256 1.904554 8 8 0.0008114413 Mouse Phenotype Single KO enlarged inguinal lymph nodes 940 0.0004277264 0.004166692175319149 2.052491 28 0.001804938 1248 0.04232586987660256 1.904554 8 8 0.0008114413 Mouse Phenotype Single KO decreased bone trabecular spacing 941 0.0004323655 0.004207407952709883 2.051033 28 0.001804938 1248 0.04232586987660256 1.904554 8 8 0.0008114413 Mouse Phenotype Single KO abnormal lung endothelial cell physiology 1060 0.000774142 0.006687564428301887 2.138999 23 0.001482627 1248 0.04232586987660256 1.904554 8 8 0.0008114413 Mouse Phenotype abnormal neuromere morphology 81 5.432005e-17 6.411777753703703e-15 2.281951 131 0.00844453 590 0.00007862449457796612 1.768515 26 28 0.002637184 Mouse Phenotype abnormal midbrain-hindbrain boundary morphology 84 8.29327e-17 9.439518389285715e-15 2.260947 132 0.008508992 668 0.00020723696505988025 1.817984 21 22 0.002130033 Mouse Phenotype abnormal rhombomere morphology 93 4.157038e-16 4.27370326e-14 2.277199 124 0.007993296 637 0.0001293347239309262 1.763476 25 27 0.002535754 Mouse Phenotype abnormal ileum morphology 106 8.550461e-15 7.71235449254717e-13 2.135428 130 0.008380068 1837 0.041048490604246056 1.380802 29 40 0.002941475 Mouse Phenotype abnormal thymus development 116 7.588127e-14 6.254317435086207e-12 2.1033 125 0.008057758 711 0.00031309733468354425 1.707531 26 29 0.002637184 Mouse Phenotype absent upper incisors 137 6.222632e-13 4.342670405255475e-11 2.93642 61 0.003932186 1684 0.03275129634085511 1.904554 8 8 0.0008114413 Mouse Phenotype small basisphenoid bone 170 3.258691e-11 1.8327261559411765e-9 2.183279 90 0.005801586 682 0.00024399700038123164 1.904554 17 17 0.001724313 Mouse Phenotype abnormal midbrain-hindbrain boundary development 178 5.868918e-11 3.1524002807865164e-9 2.449025 69 0.004447882 1045 0.004003918982870813 1.904554 12 12 0.001217162 Mouse Phenotype abnormal prechordal plate morphology 180 7.994675e-11 4.246504870833333e-9 3.001691 48 0.003094179 1474 0.01902701269742198 1.75805 12 13 0.001217162 Mouse Phenotype absent midbrain-hindbrain boundary 185 1.032811e-10 5.3376789032432434e-9 2.433939 68 0.00438342 1320 0.011509437638636363 1.904554 10 10 0.001014302 Mouse Phenotype absent cerebellum 196 1.563838e-10 7.628497509183674e-9 2.009063 102 0.006575131 1093 0.004496415835224154 1.78552 15 16 0.001521452 Mouse Phenotype abnormal pterygoid bone morphology 206 2.099206e-10 9.74296532330097e-9 2.111695 89 0.005737124 1193 0.007391770186420788 1.777584 14 15 0.001420022 Mouse Phenotype abnormal trochlear nerve morphology 207 2.223417e-10 1.026960866521739e-8 2.109157 89 0.005737124 1543 0.023425131600777707 1.666485 14 16 0.001420022 Mouse Phenotype enhanced behavioral response to alcohol 266 5.455802e-9 1.961012139924812e-7 2.415731 56 0.003609876 1543 0.023425131600777707 1.666485 14 16 0.001420022 Mouse Phenotype abnormal facial motor nucleus morphology 281 1.214353e-8 4.131825278647687e-7 2.18308 66 0.004254496 1093 0.004496415835224154 1.78552 15 16 0.001521452 Mouse Phenotype fused somites 325 4.69434e-8 0.0000013810026073846155 2.089533 67 0.004318958 985 0.0027710253182741114 1.792522 16 17 0.001622883 Mouse Phenotype abnormal rhombomere 1 morphology 344 6.391301e-8 0.000001776372932005814 2.55983 43 0.002771869 1684 0.03275129634085511 1.904554 8 8 0.0008114413 Mouse Phenotype small superior vagus ganglion 385 1.663281e-7 0.000004130553153506493 2.028085 66 0.004254496 1601 0.025969766162398503 1.558272 18 22 0.001825743 Mouse Phenotype osteomyelitis 586 0.000005213669 0.00008506465752389079 3.460581 19 0.001224779 1684 0.03275129634085511 1.904554 8 8 0.0008114413 Mouse Phenotype abnormal sebaceous lipid secretion 830 0.0000568267 0.0006546025044578313 2.523019 24 0.00154709 1886 0.04633423836585366 1.731413 10 11 0.001014302