# 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 electron transport, NADH to ubiquinone 2 4.881149e-14 3.21155198455e-10 27.586 12 0.05263158 16 0.001935720152625 9.096833 8 49 0.02373887 GO Biological Process mitochondrial respiratory chain complex I assembly 4 8.831935e-12 2.905485816625e-8 17.56773 12 0.05263158 86 0.02227339773604651 6.094167 7 64 0.02077151 GO Biological Process mitochondrial respiratory chain complex assembly 5 8.348766e-11 2.1972282358799998e-7 12.40226 13 0.05701754 92 0.04130070867065217 4.741966 8 94 0.02373887 GO Biological Process mitochondrial ATP synthesis coupled electron transport 9 2.625861e-9 0.000003839300544333334 10.57653 12 0.05263158 1 0.0013700308624 7.189432 12 93 0.03560831 GO Biological Process ATP synthesis coupled electron transport 10 4.004274e-9 0.0000052692241566 10.17816 12 0.05263158 3 0.0005151766045333333 7.112949 12 94 0.03560831 GO Biological Process oxidative phosphorylation 11 6.195818e-9 0.0000074118880965454555 9.780397 12 0.05263158 4 0.000961477138875 6.555071 12 102 0.03560831 GO Biological Process respiratory electron transport chain 12 2.352979e-8 0.000025802375550833332 7.696884 13 0.05701754 2 0.00072085199385 6.46728 13 112 0.03857567 GO Biological Process ATP metabolic process 16 2.518792e-7 0.00020715489955 5.712029 14 0.06140351 49 0.005701689965102041 3.805139 14 205 0.04154303 GO Biological Process purine ribonucleoside monophosphate metabolic process 17 4.092534e-7 0.00031678620532941173 4.74204 16 0.07017544 57 0.01083064423140351 3.356512 15 249 0.04451039 GO Biological Process purine nucleoside monophosphate metabolic process 18 4.149048e-7 0.0003033184590666667 4.737056 16 0.07017544 59 0.010953602897796611 3.343086 15 250 0.04451039 GO Biological Process cellular respiration 19 9.184321e-7 0.0006360867370473685 5.115666 14 0.06140351 13 0.0018799402903846155 4.699117 14 166 0.04154303 GO Biological Process electron transport chain 20 0.000001301403 0.0008562581038499999 4.963854 14 0.06140351 24 0.0026412322615416667 4.33363 14 180 0.04154303 GO Biological Process ribonucleoside monophosphate metabolic process 21 0.000001383578 0.0008669763286666666 4.314702 16 0.07017544 68 0.01547068603838235 3.20219 15 261 0.04451039 GO Biological Process purine ribonucleoside triphosphate metabolic process 26 0.000002534525 0.0012827620951923076 4.683369 14 0.06140351 72 0.016443003903333333 3.333562 14 234 0.04154303 GO Biological Process nucleoside monophosphate metabolic process 27 0.000002556942 0.0012461777695555554 4.110542 16 0.07017544 85 0.022101484851764705 3.039169 15 275 0.04451039 GO Biological Process ribonucleoside triphosphate metabolic process 28 0.000003782011 0.0017774100981785715 4.520938 14 0.06140351 77 0.01924014987142857 3.263822 14 239 0.04154303 GO Biological Process purine nucleoside triphosphate metabolic process 31 0.000004251763 0.0018048048166774194 4.474249 14 0.06140351 80 0.02021954369375 3.236736 14 241 0.04154303 GO Biological Process energy derivation by oxidation of organic compounds 34 0.00000852696 0.0033001843129411767 3.73058 16 0.07017544 26 0.0027450301583076928 3.809785 16 234 0.04747774 GO Biological Process nucleoside triphosphate metabolic process 37 0.00001275287 0.004535540981891892 4.053598 14 0.06140351 91 0.03752388627032967 3.011789 14 259 0.04154303 GO Biological Process generation of precursor metabolites and energy 49 0.00007290019 0.01957742041244898 2.869606 18 0.07894737 81 0.020645512504938273 2.725342 18 368 0.05341246 GO Cellular Component oxidoreductase complex 3 1.409397e-9 8.118126719999999e-7 8.72233 14 0.06140351 3 0.00291470688 5.521614 11 111 0.03264095 GO Cellular Component respiratory chain complex 4 2.272498e-9 9.81719136e-7 10.7162 12 0.05263158 2 0.00042666816959999995 6.964763 11 88 0.03264095 GO Cellular Component mitochondrial protein complex 5 3.91592e-9 0.0000013533419520000002 7.294772 15 0.06578947 6 0.010086972480000001 4.152902 12 161 0.03560831 GO Cellular Component mitochondrial respiratory chain 6 7.160516e-9 0.000002062228608 9.65167 12 0.05263158 4 0.003119406336 5.927458 10 94 0.02967359 GO Cellular Component respiratory chain 7 9.188073e-9 0.000002268141449142857 9.433452 12 0.05263158 1 0.000505033056 6.555071 12 102 0.03560831 GO Cellular Component mitochondrial respiratory chain complex I 9 2.757544e-8 0.0000052944844799999995 13.85696 9 0.03947368 5 0.011443752576 7.647582 7 51 0.02077151 GO Cellular Component mitochondrial membrane part 10 2.770389e-8 0.000004787232192 5.804294 16 0.07017544 9 0.02399136 3.416676 13 212 0.03857567 GO Cellular Component inner mitochondrial membrane protein complex 11 3.069381e-8 0.000004821718516363636 7.521122 13 0.05701754 7 0.00924101568 4.473716 11 137 0.03264095 GO Cellular Component mitochondrial membrane 17 0.000004971518 0.0005053401825882353 2.640761 27 0.1184211 17 0.04394475783529411 2.057771 26 704 0.07715134 GO Molecular Function NADH dehydrogenase (ubiquinone) activity 1 3.437391e-14 1.4512664801999998e-10 28.43078 12 0.05263158 5 0.0010111073588000001 9.90544 8 45 0.02373887 GO Molecular Function NADH dehydrogenase activity 2 4.122992e-14 8.703636112e-11 27.98958 12 0.05263158 6 0.001191423068 9.483932 8 47 0.02373887 GO Molecular Function oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor 3 1.270321e-13 1.787765087333333e-10 21.02904 13 0.05701754 3 0.0012005449804666666 8.645912 9 58 0.02670623 GO Molecular Function oxidoreductase activity, acting on NAD(P)H 6 1.180233e-8 0.00000830490621 8.169999 13 0.05701754 23 0.02815079076521739 4.600577 9 109 0.02670623 Human Phenotype Leber optic atrophy 1 3.114921e-40 2.0785867833e-36 8553.924 11 0.04824561 1 5.8622758764e-10 49.5272 8 9 0.02373887 Human Phenotype Central retinal vessel vascular tortuosity 1 3.114921e-40 2.0785867833e-36 8553.924 11 0.04824561 1 5.8622758764e-10 49.5272 8 9 0.02373887 Human Phenotype Hemianopia 1 3.114921e-40 2.0785867833e-36 8553.924 11 0.04824561 4 9.408799876499999e-10 55.7181 7 7 0.02077151 Human Phenotype Stroke-like episode 4 1.844757e-24 3.07751586525e-21 314.1526 11 0.04824561 7 6.158609888428571e-8 39.00267 7 10 0.02077151 Human Phenotype Centrocecal scotoma 5 3.343667e-23 4.4624579782000004e-20 241.2051 11 0.04824561 3 9.618246439666665e-10 44.57448 8 10 0.02373887 Human Phenotype Optic neuropathy 6 2.170241e-22 2.413669698833334e-19 203.3528 11 0.04824561 8 9.3885940325e-8 27.85905 8 16 0.02373887 Human Phenotype Wolff-Parkinson-White syndrome 7 4.483997e-21 4.274530283e-18 154.2043 11 0.04824561 11 0.0000010535302068181818 27.85905 7 14 0.02077151 Human Phenotype Episodic vomiting 8 3.234587e-20 2.6980498813750003e-17 128.7051 11 0.04824561 9 1.2970065423333332e-7 35.45697 7 11 0.02077151 Human Phenotype Mitochondrial myopathy 9 1.462446e-19 1.0843224620000002e-16 112.0961 11 0.04824561 14 0.0000015282333008571428 26.00178 7 15 0.02077151 Human Phenotype Retinal vascular tortuosity 10 1.929185e-17 1.2873451504999999e-14 71.60205 11 0.04824561 10 2.4748388655e-7 24.7636 8 18 0.02373887 Human Phenotype Ragged-red muscle fibers 11 2.033461e-17 1.2335713866363638e-14 71.256 11 0.04824561 23 0.0000435313155 16.25111 7 24 0.02077151 Human Phenotype Hemiparesis 12 3.91362e-16 2.1762988549999998e-13 41.68749 12 0.05263158 15 0.0000017093659119333331 19.38021 8 23 0.02373887 Human Phenotype Abnormal retinal artery morphology 13 4.580032e-16 2.3509656566153844e-13 53.46707 11 0.04824561 12 0.0000014155129054166665 20.26113 8 22 0.02373887 Human Phenotype Bilateral sensorineural hearing impairment 14 5.84758e-16 2.7872072385714286e-13 40.28615 12 0.05263158 12 0.0000014155129054166665 20.26113 8 22 0.02373887 Human Phenotype Arterial tortuosity 15 5.912622e-16 2.6303284404e-13 40.24821 12 0.05263158 5 2.3750594984000004e-9 31.34143 9 16 0.02670623 Human Phenotype Vascular tortuosity 16 9.728221e-16 4.0572761708124997e-13 38.57594 12 0.05263158 6 4.139733458666666e-9 29.49782 9 17 0.02670623 Human Phenotype Migraine 17 2.177853e-15 8.54871357e-13 36.0122 12 0.05263158 16 0.0000023664280563125 18.5727 8 24 0.02373887 Human Phenotype Abnormality of head blood vessel 18 4.770088e-15 1.7683776235555553e-12 43.03836 11 0.04824561 16 0.0000023664280563125 18.5727 8 24 0.02373887 Human Phenotype Muscle abnormality related to mitochondrial dysfunction 19 5.345444e-15 1.8773762006315787e-12 42.58593 11 0.04824561 30 0.00028685692209999997 12.18833 7 32 0.02077151 Human Phenotype Hemiplegia/hemiparesis 20 1.552793e-14 5.1808938445e-12 30.43892 12 0.05263158 21 0.00001306167618047619 14.85816 8 30 0.02373887