# 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 ATP synthesis coupled electron transport 9 1.35176e-17 1.9764233155555555e-14 7.925613 30 0.04098361 227 0.0466315425030837 2.517924 15 94 0.01260504 GO Biological Process respiratory electron transport chain 12 6.120587e-16 6.711733694416667e-13 6.085682 33 0.04508197 214 0.04137507506682243 2.395026 17 112 0.01428571 GO Biological Process energy derivation by oxidation of organic compounds 28 1.129898e-11 5.310117065e-9 3.26808 45 0.06147541 194 0.028367249713402064 1.955516 29 234 0.02436975 GO Biological Process response to nicotine 29 1.131362e-11 5.133652606206896e-9 6.187465 23 0.03142077 156 0.016665046844871793 3.542223 11 49 0.009243697 GO Biological Process hindbrain development 81 0.000001348177 0.00021902050793827163 2.384085 38 0.05191257 211 0.03630842505687203 2.238155 20 141 0.01680672 GO Biological Process response to alkaloid 91 0.000003548872 0.0005131824906373626 2.500074 32 0.04371585 222 0.045293088320720716 2.191527 20 144 0.01680672 GO Biological Process cellular response to steroid hormone stimulus 122 0.00004109736 0.004432788198688525 2.064084 37 0.05054645 94 0.003227964295319149 2.299451 29 199 0.02436975 Human Phenotype Leber optic atrophy 1 1.053824e-85 7.032167552e-82 6055.311 25 0.03415301 1 1.069721938e-7 15.77899 9 9 0.007563025 Human Phenotype Central retinal vessel vascular tortuosity 1 1.053824e-85 7.032167552e-82 6055.311 25 0.03415301 1 1.069721938e-7 15.77899 9 9 0.007563025 Human Phenotype Hemianopia 1 1.053824e-85 7.032167552e-82 6055.311 25 0.03415301 4 0.0000067377381095 15.77899 7 7 0.005882353 Human Phenotype Stroke-like episode 4 7.156646e-50 1.19390746895e-46 222.3882 25 0.03415301 12 0.00022736985190833332 11.04529 7 10 0.005882353 Human Phenotype Optic neuropathy 5 2.301016e-47 3.0709359535999997e-44 149.7113 26 0.03551913 5 0.0000075764681468 9.86187 10 16 0.008403361 Human Phenotype Centrocecal scotoma 6 5.126862e-47 5.701925021e-44 170.7488 25 0.03415301 3 3.3637992429999995e-7 14.20109 9 10 0.007563025 Human Phenotype Wolff-Parkinson-White syndrome 7 2.907937e-44 2.7720948001428567e-41 113.5275 26 0.03551913 14 0.0002580381893357143 9.016567 8 14 0.006722689 Human Phenotype Episodic vomiting 8 3.006087e-40 2.507452318875e-37 91.11019 25 0.03415301 16 0.0004431576835625 10.04118 7 11 0.005882353 Human Phenotype Mitochondrial myopathy 9 9.156642e-39 6.789141340666667e-36 79.3527 25 0.03415301 17 0.00042997985788235287 8.415462 8 15 0.006722689 Human Phenotype Retinal vascular tortuosity 10 1.045837e-35 6.978870300999999e-33 52.71448 26 0.03551913 6 0.00003067998499 8.766106 10 18 0.008403361 Human Phenotype Ragged-red muscle fibers 12 6.428928e-34 3.5750197120000003e-31 50.44203 25 0.03415301 126 0.028431190345238094 4.602206 7 24 0.005882353 Human Phenotype Muscle abnormality related to mitochondrial dysfunction 13 1.669898e-31 8.571714887692308e-29 32.55824 27 0.03688525 45 0.0026615052895555555 4.930935 10 32 0.008403361 Human Phenotype Abnormal retinal artery morphology 14 7.244552e-31 3.4530639640000004e-28 37.84927 25 0.03415301 23 0.0010871483324347826 6.455042 9 22 0.007563025 Human Phenotype Abnormality of head blood vessel 15 1.416542e-28 6.301723177333333e-26 30.4668 25 0.03415301 32 0.001829639007375 5.917122 9 24 0.007563025 Human Phenotype Bilateral sensorineural hearing impairment 16 2.037915e-28 8.499379246874999e-26 27.18765 26 0.03551913 53 0.004592981833018868 5.737815 8 22 0.006722689 Human Phenotype Scotoma 17 9.217458e-28 3.618123366705882e-25 23.40037 27 0.03688525 15 0.00033687319246 5.985135 11 29 0.009243697 Human Phenotype Hemiparesis 18 2.514262e-27 9.320927958888888e-25 27.05131 25 0.03415301 115 0.02333216190782609 4.802302 7 23 0.005882353 Human Phenotype Arterial tortuosity 19 5.868954e-27 2.0612384232631577e-24 26.11735 25 0.03415301 9 0.00009047483247777778 8.875683 9 16 0.007563025 Human Phenotype Cortical visual impairment 20 7.658969e-27 2.5554150068500002e-24 15.07773 32 0.04371585 35 0.0018496124164857142 4.40344 12 43 0.01008403 Human Phenotype Ventricular arrhythmia 21 1.015211e-26 3.225953810952381e-24 13.31497 34 0.04644809 7 0.000026681542455714287 5.152324 16 49 0.01344538 Mouse Phenotype Single KO fusion of vertebral arches 17 0.00001182315 0.006368504973529412 3.898429 15 0.0204918 181 0.009995002096132596 3.542223 11 49 0.009243697 Mouse Phenotype Single KO abnormal epidermis stratum basale morphology 19 0.0000144433 0.00696091042631579 4.353573 13 0.01775956 67 0.0008770715371791045 4.959112 11 35 0.009243697 Mouse Phenotype Single KO increased CD8-positive, alpha-beta T cell number 22 0.00002374377 0.009882804631363635 2.646468 24 0.03278689 337 0.03372330178041543 2.156841 19 139 0.01596639 Mouse Phenotype Single KO abnormal CD5-positive Ly6C-positive T cell number 27 0.00004130111 0.014007194972962963 7.81259 7 0.009562842 305 0.027440415620000002 7.889496 4 8 0.003361345 Mouse Phenotype Single KO abnormal epidermis stratum corneum morphology 28 0.00004384802 0.014339868540714285 2.931815 19 0.02595628 143 0.0053973259838461535 2.653105 19 113 0.01596639 Mouse Phenotype Single KO abnormal nose morphology 29 0.00004535841 0.014322308978275862 2.191129 32 0.04371585 63 0.0006427682021904762 2.857613 23 127 0.01932773 Mouse Phenotype Single KO abnormal effector memory CD8-positive, alpha-beta T cell number 31 0.0000503748 0.014880065922580643 3.849024 13 0.01775956 321 0.03036760728037383 3.381212 9 42 0.007563025 Mouse Phenotype Single KO abnormal CD4-negative NK T cell number 35 0.00009884509 0.02586069968942857 6.783265 7 0.009562842 256 0.017210427691015624 9.016567 4 7 0.003361345 Mouse Phenotype Single KO abnormal vertebral artery morphology 37 0.0001067119 0.026409753197297294 4.109575 11 0.01502732 355 0.04027650992112676 3.506443 8 36 0.006722689 Mouse Phenotype Single KO abnormal premaxilla morphology 39 0.0001141693 0.026806366156410258 3.541884 13 0.01775956 64 0.000659492147734375 5.635354 10 28 0.008403361 Mouse Phenotype Single KO increased keratinocyte proliferation 51 0.0001609182 0.028892705047058823 6.260991 7 0.009562842 384 0.0472058373203125 4.303361 6 22 0.005042017 Mouse Phenotype Single KO retroesophageal right subclavian artery 53 0.0001650248 0.028511926294339622 4.710891 9 0.01229508 296 0.02623228063783784 4.982839 6 19 0.005042017 Mouse Phenotype Single KO abnormal maxilla morphology 59 0.0002213437 0.03435329255762712 2.005076 32 0.04371585 27 0.00003644543655185185 3.28729 25 120 0.0210084 Mouse Phenotype Single KO abnormal keratinocyte proliferation 61 0.000237241 0.03561337437704918 4.482064 9 0.01229508 319 0.03010204435423197 3.712704 8 34 0.006722689 Mouse Phenotype Single KO abnormal first pharyngeal arch morphology 66 0.0002897067 0.040194609877272726 2.793805 16 0.02185792 43 0.0001760696034604651 5.003095 13 41 0.01092437 Mouse Phenotype Single KO short limbs 69 0.000320988 0.042598364 2.267472 23 0.03142077 121 0.0038206364089256196 2.947724 17 91 0.01428571 Mouse Phenotype Single KO abnormal retinal ganglion layer morphology 72 0.0003542801 0.04505753994027777 2.300544 22 0.03005464 331 0.032180851770392746 2.629832 13 78 0.01092437 Mouse Phenotype Single KO short nasal bone 73 0.0003644815 0.04571996021232877 3.322452 12 0.01639344 241 0.016102850470954357 4.207731 8 30 0.006722689 Mouse Phenotype Single KO increased effector memory CD8-positive, alpha-beta T cell number 74 0.0003760864 0.04653815087567568 4.710765 8 0.01092896 350 0.03977722311428572 4.508283 6 21 0.005042017 Mouse Phenotype Single KO abnormal right subclavian artery morphology 75 0.000382442 0.046693618586666666 3.304294 12 0.01639344 194 0.011873202205154641 4.057455 9 35 0.007563025 Mouse Phenotype cardiomyopathy 12 0.000002251582 0.0017939479585000002 2.472107 34 0.04644809 331 0.027152881823564956 2.110566 21 157 0.01764706 Mouse Phenotype decreased insulin secretion 16 0.00000874426 0.00522524186625 2.472663 30 0.04098361 66 0.0004892983716363637 2.826088 24 134 0.02016807 Mouse Phenotype abnormal nose morphology 19 0.0000145109 0.00730203762631579 2.073006 41 0.05601093 33 0.00002522444731909091 2.877346 31 170 0.02605042 Mouse Phenotype abnormal epidermis stratum basale morphology 23 0.00001962569 0.008158314003913043 3.377721 17 0.02322404 245 0.010784847024489794 3.209286 12 59 0.01008403 Mouse Phenotype fusion of vertebral arches 26 0.00003681901 0.013539482869615387 3.526582 15 0.0204918 284 0.016334110029929575 3.214239 11 54 0.009243697 Mouse Phenotype abnormal CD5-positive Ly6C-positive T cell number 27 0.00004130111 0.01462518195222222 7.81259 7 0.009562842 328 0.02664199758932927 7.889496 4 8 0.003361345 Mouse Phenotype abnormal effector memory CD8-positive, alpha-beta T cell number 29 0.00006009255 0.019811892087931035 3.781316 13 0.01775956 354 0.034347622415254235 3.30258 9 43 0.007563025 Mouse Phenotype abnormal pancreas secretion 34 0.00008227531 0.023136301144411765 2.040243 35 0.04781421 204 0.00785119793382353 2.093895 28 211 0.02352941 Mouse Phenotype abnormal CD4-negative NK T cell number 36 0.00009884509 0.026251608485833335 6.783265 7 0.009562842 282 0.016312954467021277 9.016567 4 7 0.003361345 Mouse Phenotype cardiac fibrosis 37 0.0001045179 0.02700799032162162 2.014704 35 0.04781421 288 0.017514181738541666 2.043911 25 193 0.0210084 Mouse Phenotype abnormal vertebral artery morphology 38 0.0001078102 0.027125613742105262 3.804591 12 0.01639344 297 0.019329724796969698 3.641306 9 39 0.007563025 Mouse Phenotype brachydactyly 40 0.0001229939 0.029398616947499994 3.320818 14 0.01912568 256 0.011828450906250001 3.944748 9 36 0.007563025 Mouse Phenotype short nasal bone 42 0.0001493198 0.0339915859 3.10132 15 0.0204918 108 0.0018049317769444444 4.450485 11 39 0.009243697 Mouse Phenotype vertebral fusion 55 0.0002388202 0.0415156351309091 2.022371 31 0.04234973 100 0.0015529721957999998 2.528685 25 156 0.0210084