# 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 mitochondrial ATP synthesis coupled electron transport 10 2.03003e-11 2.6713164769999997e-8 8.91963 17 0.04438642 63 0.021953264136507937 3.648853 12 93 0.01807229 GO Biological Process ATP synthesis coupled electron transport 12 3.645484e-11 3.997576996333334e-8 8.583667 17 0.04438642 68 0.022579024961764706 3.610036 12 94 0.01807229 GO Biological Process ATP metabolic process 13 6.568518e-11 6.648856027846155e-8 5.586326 23 0.06005222 43 0.012830242276511628 2.758889 20 205 0.03012048 GO Biological Process oxidative phosphorylation 14 6.676333e-11 6.275276139071428e-8 8.24822 17 0.04438642 92 0.0365320158 3.326896 12 102 0.01807229 GO Biological Process purine ribonucleoside monophosphate metabolic process 18 1.19844e-9 8.761262200000001e-7 4.410841 25 0.06527415 53 0.019745521443773582 2.498512 22 249 0.03313253 GO Biological Process purine nucleoside monophosphate metabolic process 19 1.223757e-9 8.475483348947368e-7 4.406204 25 0.06527415 55 0.020186721858000002 2.488518 22 250 0.03313253 GO Biological Process ribonucleoside monophosphate metabolic process 23 1.722423e-9 9.854506198695653e-7 4.173883 26 0.06788512 48 0.015740307820416667 2.491985 23 261 0.03463855 GO Biological Process purine ribonucleoside triphosphate metabolic process 24 2.792678e-9 0.0000015312020750833335 4.580303 23 0.06005222 93 0.03644447307634408 2.416976 20 234 0.03012048 GO Biological Process ribose phosphate metabolic process 25 2.881572e-9 0.00000151674423792 3.060913 37 0.09660574 16 0.00414885834325 2.356551 33 396 0.0496988 GO Biological Process nucleotide metabolic process 26 2.904953e-9 0.0000014702414048846156 2.762088 43 0.1122715 18 0.004341080263388889 2.15825 39 511 0.05873494 GO Biological Process nucleoside phosphate metabolic process 28 3.496931e-9 0.0000016434326796071431 2.744503 43 0.1122715 23 0.004463458423043478 2.133203 39 517 0.05873494 GO Biological Process nucleoside monophosphate metabolic process 31 4.593413e-9 0.0000019498297311935486 3.976386 26 0.06788512 72 0.023164427373611112 2.36512 23 275 0.03463855 GO Biological Process organophosphate metabolic process 32 5.097118e-9 0.0000020960304925624998 2.146865 65 0.1697128 28 0.005413659596428572 1.765604 61 977 0.09186747 GO Biological Process nucleobase-containing small molecule metabolic process 33 5.145804e-9 0.000002051928328363636 2.632001 45 0.1174935 31 0.005585812971935483 2.041238 41 568 0.06174699 GO Biological Process ribonucleoside triphosphate metabolic process 34 5.343371e-9 0.0000020680417349705883 4.421447 23 0.06005222 99 0.04515388564343434 2.366411 20 239 0.03012048 GO Biological Process purine ribonucleoside metabolic process 35 5.868186e-9 0.000002206270273542857 3.579718 29 0.07571802 59 0.020833583058644065 2.269272 26 324 0.03915663 GO Biological Process purine nucleoside triphosphate metabolic process 36 6.459657e-9 0.0000023611840684166667 4.375786 23 0.06005222 103 0.04835301379029126 2.346773 20 241 0.03012048 GO Biological Process purine nucleoside metabolic process 37 6.850674e-9 0.0000024364329504324323 3.554229 29 0.07571802 64 0.022314497615625 2.248453 26 327 0.03915663 GO Biological Process ribonucleoside metabolic process 39 8.719312e-9 0.000002941985297641026 3.421154 30 0.07832898 73 0.02516750682739726 2.175278 27 351 0.04066265 GO Biological Process purine-containing compound metabolic process 40 9.853392e-9 0.0000032415196332000003 2.918896 37 0.09660574 34 0.00601862858735294 2.232522 33 418 0.0496988 GO Molecular Function phosphatase regulator activity 19 0.000003145024 0.0006988574383157896 4.084971 16 0.04177546 9 0.03981854047333334 3.729048 12 91 0.01807229 Human Phenotype Leber optic atrophy 1 6.017688e-53 4.0156032024000004e-49 6943.845 15 0.03916449 1 5.474992973499999e-10 28.27861 9 9 0.01355422 Human Phenotype Central retinal vessel vascular tortuosity 1 6.017688e-53 4.0156032024000004e-49 6943.845 15 0.03916449 1 5.474992973499999e-10 28.27861 9 9 0.01355422 Human Phenotype Hemianopia 1 6.017688e-53 4.0156032024000004e-49 6943.845 15 0.03916449 6 7.458792461e-8 28.27861 7 7 0.01054217 Human Phenotype Stroke-like episode 4 1.917058e-31 3.1981320085000003e-28 255.0207 15 0.03916449 9 0.00000543562561 19.79503 7 10 0.01054217 Human Phenotype Centrocecal scotoma 5 9.930917e-30 1.32538018282e-26 195.8038 15 0.03916449 3 1.7676745859333333e-9 25.45075 9 10 0.01355422 Human Phenotype Optic neuropathy 6 1.26899e-28 1.4113283783333331e-25 165.0763 15 0.03916449 8 6.263013382375e-7 15.90672 9 16 0.01355422 Human Phenotype Wolff-Parkinson-White syndrome 7 7.842106e-27 7.475767619714286e-24 125.1789 15 0.03916449 16 0.00007723509536875001 14.13931 7 14 0.01054217 Human Phenotype Episodic vomiting 8 1.155199e-25 9.63580365875e-23 104.4794 15 0.03916449 11 0.000011856095024545456 17.99548 7 11 0.01054217 Human Phenotype Mitochondrial myopathy 9 9.003589e-25 6.675661044111112e-22 90.99662 15 0.03916449 10 0.000008084019196 15.08193 8 15 0.01204819 Human Phenotype Retinal vascular tortuosity 10 1.066756e-23 7.118462788000001e-21 61.9996 16 0.04177546 7 9.234350020714286e-8 15.71034 10 18 0.01506024 Human Phenotype Ragged-red muscle fibers 11 1.151434e-23 6.985017347272727e-21 61.69995 16 0.04177546 19 0.00036646640915789476 9.426205 8 24 0.01204819 Human Phenotype Abnormal retinal artery morphology 12 5.084951e-20 2.8276565019166666e-17 43.40313 15 0.03916449 13 0.000013845150666153846 11.56852 9 22 0.01355422 Human Phenotype Bilateral sensorineural hearing impairment 13 3.420743e-19 1.7558936953076924e-16 31.97648 16 0.04177546 17 0.00018961627822352943 10.28313 8 22 0.01204819 Human Phenotype Arterial tortuosity 14 3.471229e-19 1.6545365083571428e-16 31.94636 16 0.04177546 4 3.153779914e-8 17.67413 10 16 0.01506024 Human Phenotype Vascular tortuosity 15 6.712169e-19 2.9860202491333337e-16 30.61903 16 0.04177546 5 5.9334928016e-8 16.63448 10 17 0.01506024 Human Phenotype Abnormality of head blood vessel 16 1.221802e-18 5.095677966249999e-16 34.93738 15 0.03916449 15 0.00002959782458 10.60448 9 24 0.01355422 Human Phenotype Muscle abnormality related to mitochondrial dysfunction 17 1.425809e-18 5.596719680588236e-16 34.57011 15 0.03916449 30 0.0025834830906666666 7.069654 8 32 0.01204819 Human Phenotype Migraine 18 1.9506e-18 7.231307666666666e-16 28.5841 16 0.04177546 19 0.00036646640915789476 9.426205 8 24 0.01204819 Human Phenotype Scotoma 19 6.284807e-18 2.207290374263158e-15 26.50276 16 0.04177546 14 0.000014848359219999999 9.751246 10 29 0.01506024 Human Phenotype Hemiparesis 20 6.924426e-18 2.3103347349e-15 31.02071 15 0.03916449 28 0.002386319613928571 8.606535 7 23 0.01054217 Mouse Phenotype Single KO increased classified tumor incidence 3 1.639059e-7 0.0005002954420999999 2.747706 34 0.08877285 2 0.00325369866305 2.672674 31 328 0.04668675 Mouse Phenotype Single KO abnormal classified tumor incidence 4 1.838462e-7 0.00042086991335 2.733913 34 0.08877285 3 0.0024727623846666665 2.656476 31 330 0.04668675 Mouse Phenotype Single KO increased lymphoma incidence 11 7.964194e-7 0.0006629829496181817 3.717293 20 0.05221932 19 0.03453717737052632 3.057148 16 148 0.02409639 Mouse Phenotype Single KO increased hemolymphoid system tumor incidence 13 8.59347e-7 0.0006053108060769231 3.425042 22 0.05744125 12 0.0304944353675 2.95939 18 172 0.02710843 Mouse Phenotype Single KO increased organ/body region tumor incidence 19 0.000005920993 0.0028536069947894733 2.408548 32 0.08355091 9 0.023726010837777776 2.370662 28 334 0.04216867 Mouse Phenotype Single KO abnormal organ/body region tumor incidence 20 0.000006851694 0.0031370480978999997 2.390985 32 0.08355091 10 0.026467365329000004 2.342607 28 338 0.04216867 Mouse Phenotype Single KO increased tumor incidence 28 0.00004773459 0.015610915736785715 2.074826 35 0.09138381 22 0.036928178946818185 2.070745 32 437 0.04819277 Mouse Phenotype Single KO abnormal mesoderm morphology 52 0.0002196041 0.03867143737884615 2.848693 16 0.04177546 14 0.03263495933571429 3.472812 14 114 0.02108434 Mouse Phenotype Single KO abnormal pre-B cell morphology 65 0.0003211889 0.045248103958461544 3.354653 12 0.03133159 29 0.05015721489310345 3.747768 11 83 0.01656627 Mouse Phenotype Single KO abnormal erythropoiesis 66 0.0003239226 0.044941806790909096 2.998933 14 0.03655352 27 0.046316682551851854 3.342018 13 110 0.01957831 Mouse Phenotype abnormal pre-B cell morphology 14 0.00000770261 0.005260332443571429 3.310785 19 0.04960836 6 0.0074171640595 3.61456 17 133 0.02560241 Mouse Phenotype decreased pre-B cell number 20 0.00002750238 0.013147512759000002 3.417651 16 0.04177546 11 0.015259243006363638 3.806737 14 104 0.02108434 Mouse Phenotype abnormal B cell differentiation 24 0.00003987064 0.01588346621 2.216443 31 0.08093995 10 0.016067862843 2.370173 29 346 0.0436747