# 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 gene expression, epigenetic 41 3.531538e-9 0.0000011334514278536586 2.238462 66 0.03428571 108 0.009299885656944444 1.690323 53 248 0.02232519 GO Cellular Component melanosome 18 5.123971e-7 0.0000491901216 2.408992 41 0.0212987 8 0.000771960024 2.335167 31 105 0.01305813 Human Phenotype Abnormality of metacarpal epiphyses 1 1.649977e-12 1.1010296521e-8 10.65909 17 0.008831169 35 0.008261103456857143 5.536605 7 10 0.00294861 Human Phenotype Pseudoepiphyses of the metacarpals 12 3.531159e-7 0.00019636186672499997 7.662621 11 0.005714286 20 0.008460936928 6.779516 6 7 0.00252738 Human Phenotype Low posterior hairline 15 0.000001019805 0.000453677251 3.32972 23 0.01194805 25 0.0080044209828 3.256826 14 34 0.00589722 Human Phenotype Pseudoepiphyses of hand bones 17 0.00000150324 0.0005900659129411764 6.589603 11 0.005714286 154 0.046026930837662336 4.314238 6 11 0.00252738 Human Phenotype Malrotation of small bowel 21 0.000004400987 0.001398466011952381 14.75888 6 0.003116883 161 0.04749911860248447 6.327548 4 5 0.00168492 Human Phenotype Rib segmentation abnormalities 21 0.000004400987 0.001398466011952381 14.75888 6 0.003116883 161 0.04749911860248447 6.327548 4 5 0.00168492 Human Phenotype Tethered cord 23 0.000004641589 0.0013466662346521738 6.558424 10 0.005194805 154 0.046026930837662336 4.314238 6 11 0.00252738 Human Phenotype Obstructive sleep apnea 38 0.00001347766 0.0023667480310526315 5.789693 10 0.005194805 60 0.011798520178333332 5.033277 7 11 0.00294861 Human Phenotype Single transverse palmar crease 91 0.0001622469 0.011897511689010988 2.004786 34 0.01766234 15 0.009091241816 2.681165 20 59 0.0084246 Human Phenotype Short upper lip 99 0.0002290937 0.015441841011111112 5.09062 8 0.004155844 122 0.02957393195819672 4.745661 6 10 0.00252738 Human Phenotype Skin tags 107 0.0002642329 0.01647874898785047 2.555118 19 0.00987013 14 0.009511160359999998 3.355518 14 33 0.00589722 Human Phenotype Rib fusion 109 0.0002743682 0.01679687154678899 3.242419 13 0.006753247 126 0.02875706577063492 3.722087 8 17 0.00336984 Human Phenotype Shawl scrotum 116 0.0003695459 0.021258446471551725 4.224813 9 0.004675325 87 0.018582655925287357 5.272957 6 9 0.00252738 Human Phenotype Vertebral fusion 143 0.0007386983 0.034470865425874124 2.342948 19 0.00987013 84 0.01899569545 2.768302 14 40 0.00589722 Human Phenotype Preauricular skin tag 151 0.0007857496 0.03472388795231788 2.551777 16 0.008311688 43 0.010264633619767441 3.625158 11 24 0.00463353 Human Phenotype Hemangioma 155 0.0008219904 0.035388012510967744 2.212536 21 0.01090909 166 0.046433949903614456 2.50787 13 41 0.00547599 Human Phenotype Split hand 169 0.001105741 0.043660412384615384 2.390241 17 0.008831169 131 0.030802262366412213 2.791565 12 34 0.00505476 Human Phenotype Prominent glabella 178 0.001320609 0.04950799919662921 4.378848 7 0.003636364 124 0.029137116354838708 5.649597 5 7 0.00210615 Mouse Phenotype Single KO decreased circulating total protein level 17 9.382447e-8 0.000050538274811176476 3.20557 29 0.01506494 54 0.03226818272592592 2.454652 18 58 0.00758214 Mouse Phenotype Single KO absent ovarian follicles 21 4.966557e-7 0.00021656553547142856 3.476572 23 0.01194805 36 0.017876562479166667 2.812244 16 45 0.00673968 Mouse Phenotype Single KO abnormal heart apex morphology 51 0.00002869846 0.005152780357254902 6.903196 8 0.004155844 50 0.031648313516000004 6.591196 5 6 0.00210615 Mouse Phenotype Single KO abnormal muscle development 55 0.00004056091 0.006753022779454546 2.106331 36 0.0187013 71 0.03736851756197183 2.214642 21 75 0.00884583 Mouse Phenotype Single KO abnormal surfactant secretion 103 0.0004509022 0.04008651888737864 2.597853 17 0.008831169 78 0.041204762517948725 3.107278 11 28 0.00463353 Mouse Phenotype decreased circulating total protein level 12 1.157097e-7 0.00009219170347500001 3.172819 29 0.01506494 106 0.02181170773584906 2.413048 18 59 0.00758214 Mouse Phenotype absent ovarian follicles 28 0.000002271932 0.0007757836375714285 2.919437 26 0.01350649 65 0.007492395278307693 2.686223 18 53 0.00758214 Mouse Phenotype thin myocardium compact layer 56 0.00006697081 0.011434069900178572 2.298978 28 0.01454545 28 0.0016724944616785715 3.005586 19 50 0.00800337 Mouse Phenotype abnormal heart apex morphology 77 0.0001725734 0.02142823736883117 5.311737 8 0.004155844 142 0.03645541969014084 5.649597 5 7 0.00210615 Mouse Phenotype primary atelectasis 105 0.0004180585 0.038067212557142856 2.819854 15 0.007792208 136 0.03524330827058823 3.000131 11 29 0.00463353 Mouse Phenotype increased synaptic depression 109 0.0005113084 0.044849721214678895 2.568286 17 0.008831169 151 0.03616094303046357 3.389758 9 21 0.00379107