# 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 potassium ion transport 14 2.928777e-18 2.752841181642857e-15 2.171739 154 0.0518344 334 0.000890941126497006 1.693968 56 177 0.01596806 GO Biological Process potassium ion transmembrane transport 16 1.232757e-17 1.0138655851875e-14 2.201776 144 0.04846853 420 0.003882503421190477 1.660464 49 158 0.01397206 GO Biological Process negative regulation of ossification 136 6.12864e-7 0.00005929909835294117 2.059232 57 0.01918546 630 0.029120616352380956 1.835708 24 70 0.006843456 GO Biological Process commissural neuron axon guidance 162 0.00001526151 0.0012396679635185185 3.466539 17 0.005721979 562 0.019588925252846976 4.015612 6 8 0.001710864 GO Biological Process regulation of phosphoprotein phosphatase activity 164 0.0000181054 0.0014527375524390244 2.224591 35 0.01178055 626 0.029097281699680507 2.14166 16 40 0.004562304 GO Biological Process regulation of protein dephosphorylation 167 0.00002166007 0.0017067356953892217 2.018453 43 0.01447324 622 0.028676845951768486 1.86584 23 66 0.006558312 GO Biological Process positive regulation of cellular response to insulin stimulus 177 0.00003492316 0.0025963495053107346 2.814405 21 0.007068327 716 0.05014610033379888 2.294635 12 28 0.003421728 GO Biological Process nephron tubule formation 223 0.0001141582 0.0067363576403587444 2.159548 30 0.01009761 512 0.013153759531054689 2.974527 10 18 0.00285144 GO Biological Process positive regulation of meiotic cell cycle 244 0.0001561784 0.008422752318032788 2.459871 22 0.007404914 256 0.00022031399207421873 3.779399 12 17 0.003421728 GO Biological Process venous blood vessel development 251 0.0001688643 0.008852929576494023 2.507507 21 0.007068327 565 0.020389213714513275 3.011709 9 16 0.002566296 GO Biological Process T cell selection 276 0.0002822226 0.01345567823695652 2.044819 30 0.01009761 543 0.017297835080847146 2.254378 16 38 0.004562304 GO Biological Process regulation of neuroblast proliferation 302 0.0003659768 0.015946651361589407 2.01211 30 0.01009761 211 0.00006392349084834124 3.250733 17 28 0.004847448 GO Biological Process positive regulation of meiotic nuclear division 318 0.0004497974 0.018612842725157234 2.446673 19 0.006395153 354 0.0012944909761016948 4.015612 9 12 0.002566296 GO Biological Process dorsal spinal cord development 335 0.000535867 0.021049175680597016 2.410621 19 0.006395153 400 0.0031709923278249994 3.059514 12 21 0.003421728 GO Biological Process nuclear envelope reassembly 341 0.0005769479 0.022264097994428154 2.993883 13 0.004375631 512 0.013153759531054689 2.974527 10 18 0.00285144 GO Biological Process positive regulation of protein dephosphorylation 352 0.0006767281 0.025298480306534088 2.047296 26 0.008751262 607 0.025673599217462935 2.230895 15 36 0.00427716 GO Biological Process positive regulation of cell fate commitment 403 0.001163091 0.037977951535980145 3.586209 9 0.003029283 675 0.04116907194666667 3.569433 6 9 0.001710864 GO Biological Process positive regulation of phosphoprotein phosphatase activity 408 0.001191187 0.038418700325980396 2.248789 19 0.006395153 565 0.020389213714513275 3.011709 9 16 0.002566296 GO Biological Process spinal cord association neuron differentiation 457 0.001711303 0.04927579032166302 2.647599 13 0.004375631 638 0.030959703184952978 3.059514 8 14 0.002281152 GO Molecular Function potassium ion transmembrane transporter activity 1 1.130671e-19 4.773692962000001e-16 2.261417 153 0.05149781 23 0.0016148006388695651 1.762951 54 164 0.01539778 GO Molecular Function voltage-gated potassium channel activity 2 6.047862e-18 1.2767036682e-14 2.536957 111 0.03736116 38 0.02076052950526316 1.840489 33 96 0.009409752 GO Molecular Function potassium channel activity 3 6.158392e-18 8.666910341333334e-15 2.290469 135 0.04543925 25 0.002426450952 1.839211 45 131 0.01283148 GO Molecular Function voltage-gated cation channel activity 4 1.227255e-16 1.2953676524999998e-13 2.226672 132 0.04442949 28 0.003406268887857143 1.797743 46 137 0.01311662 Human Phenotype 2-3 toe syndactyly 35 1.749058e-8 0.0000033347040097142856 2.514707 48 0.01615618 4 0.035702118155 2.758198 17 33 0.004847448 Mouse Phenotype Single KO abnormal cochlear inner hair cell number 23 2.873093e-34 1.1438657652608695e-31 5.495074 83 0.02793672 299 0.005324235054849498 2.677074 14 28 0.003992016 Mouse Phenotype Single KO head tossing 36 1.382556e-25 3.516684803333333e-23 4.059166 83 0.02793672 289 0.004773163878546713 2.519599 16 34 0.004562304 Mouse Phenotype Single KO abnormal vestibular hair cell morphology 54 1.325546e-20 2.247782355925926e-18 3.494967 79 0.02659037 567 0.03038105261022928 2.089424 16 41 0.004562304 Mouse Phenotype Single KO head bobbing 58 4.77892e-20 7.544925937931034e-18 3.385052 80 0.02692696 369 0.010667972002439026 2.275513 17 40 0.004847448 Mouse Phenotype Single KO abnormal vestibular saccule morphology 60 9.763226e-20 1.4900310080333335e-17 3.342944 80 0.02692696 631 0.03962439968779715 1.978707 17 46 0.004847448 Mouse Phenotype Single KO abnormal cochlear hair cell number 61 9.886021e-20 1.4840376114262295e-17 2.905636 98 0.03298553 536 0.02719980929477612 1.905714 21 59 0.005988024 Mouse Phenotype Single KO abnormal otolith organ morphology 65 7.285197e-19 1.0263161373692307e-16 3.117523 84 0.02827331 420 0.01455318303595238 2.059288 20 52 0.00570288 Mouse Phenotype Single KO deafness 69 7.850391e-17 1.0418265273478261e-14 2.356746 119 0.04005385 372 0.010828802351612904 1.750395 34 104 0.009694896 Mouse Phenotype Single KO circling 73 7.849009e-16 9.845667864794521e-14 2.359999 111 0.03736116 212 0.0013067064916037737 1.952033 35 96 0.00998004 Mouse Phenotype Single KO abnormal vestibular labyrinth morphology 76 1.809156e-15 2.1797949331578946e-13 2.513327 96 0.03231235 463 0.018475720926565877 1.831682 26 76 0.007413744 Mouse Phenotype Single KO abnormal inner ear vestibule morphology 79 8.122616e-15 9.415037305316454e-13 2.552505 89 0.02995624 373 0.01081539898391421 1.939909 25 69 0.0071286 Mouse Phenotype Single KO abnormal semicircular canal morphology 83 7.269014e-14 8.019561590120483e-12 2.358218 96 0.03231235 219 0.0015303625796803653 2.254378 24 57 0.006843456 Mouse Phenotype Single KO abnormal inner ear canal morphology 88 1.401578e-13 1.4584374711363634e-11 2.319058 97 0.03264894 226 0.0017760439091150442 2.194323 25 61 0.0071286 Mouse Phenotype Single KO abnormal head movements 90 7.624535e-13 7.757540777222223e-11 2.22852 99 0.03332211 642 0.04381667289719626 1.665735 28 90 0.007984032 Mouse Phenotype Single KO incomplete somite formation 133 4.167717e-8 0.0000028694574863909772 2.468845 47 0.01581959 214 0.001334634033691589 2.543221 19 40 0.005417736 Mouse Phenotype Single KO small pterygoid bone 143 3.900042e-7 0.00002497390531048951 4.876727 16 0.005385392 316 0.006570619838924051 5.354149 5 5 0.00142572 Mouse Phenotype Single KO failure of heart looping 145 4.233827e-7 0.000026737347475172416 2.43274 41 0.01380007 408 0.01363886222892157 2.220013 17 41 0.004847448 Mouse Phenotype Single KO abnormal hippocampal fimbria morphology 163 0.000004196469 0.00023574887504907973 3.508949 19 0.006395153 228 0.001851521302631579 4.283319 8 10 0.002281152 Mouse Phenotype Single KO abnormal pterygoid bone morphology 166 0.000005382651 0.00029692129642771084 3.202541 21 0.007068327 181 0.0005287904425966851 4.380667 9 11 0.002566296 Mouse Phenotype Single KO abnormal pterygoid process morphology 170 0.00001076946 0.0005800937954117647 2.314582 34 0.01144396 89 0.000007017898049213484 4.015612 15 20 0.00427716 Mouse Phenotype decreased cochlear inner hair cell number 16 3.168194e-37 1.893193927125e-34 7.665991 69 0.0232245 759 0.018899741391304348 2.677074 10 20 0.00285144 Mouse Phenotype abnormal cochlear inner hair cell number 26 7.765557e-31 2.855634249115385e-28 4.717682 86 0.02894648 463 0.0031108086732181428 2.519599 16 34 0.004562304 Mouse Phenotype head tossing 30 2.065406e-25 6.582448922e-23 4.033482 83 0.02793672 506 0.00433904822312253 2.447611 16 35 0.004562304 Mouse Phenotype absent cochlear hair cells 34 8.821488e-24 2.4806543167058824e-21 4.194786 74 0.02490744 1022 0.04292927356262231 2.265217 11 26 0.003136584 Mouse Phenotype cochlear hair cell degeneration 50 8.270882e-20 1.58155805604e-17 2.697055 111 0.03736116 999 0.04036658028228228 1.617399 29 96 0.008269176 Mouse Phenotype abnormal cochlear outer hair cell number 52 1.619703e-19 2.978073150576923e-17 2.983616 93 0.03130259 918 0.03156565191503268 1.883867 19 54 0.005417736 Mouse Phenotype decreased cochlear hair cell number 59 2.196372e-18 3.5592394393220335e-16 2.881092 92 0.030966 486 0.00372267174691358 2.14166 22 55 0.006273168 Mouse Phenotype abnormal vestibular hair cell morphology 60 5.298499e-18 8.443158156499999e-16 3.036154 83 0.02793672 732 0.016897852782786885 2.050525 18 47 0.005132592 Mouse Phenotype abnormal cochlear hair cell number 61 6.783093e-18 1.0631664290655737e-15 2.571734 108 0.0363514 396 0.0015735353765151516 2.053646 28 73 0.007984032 Mouse Phenotype head bobbing 62 8.086548e-18 1.2470239585161291e-15 3.038099 82 0.02760013 607 0.009366998331795716 2.119351 19 48 0.005417736 Mouse Phenotype impaired swimming 63 1.624468e-17 2.4653235790476186e-15 2.733781 95 0.03197577 1029 0.04336787834402333 1.673172 25 80 0.0071286 Mouse Phenotype abnormal cochlear inner hair cell morphology 65 3.425807e-17 5.039098573384615e-15 2.298798 128 0.04308314 804 0.02307202488059702 1.577191 38 129 0.01083547 Mouse Phenotype abnormal vestibular saccule morphology 66 1.644251e-16 2.3819217895454547e-14 2.792514 86 0.02894648 765 0.018885012180392156 1.946963 20 55 0.00570288 Mouse Phenotype deafness 69 4.732294e-16 6.557313468695653e-14 2.269216 122 0.04106361 526 0.005387856163117871 1.73775 37 114 0.01055033 Mouse Phenotype abnormal otolith organ morphology 73 2.871063e-15 3.7603059373972603e-13 2.537381 93 0.03130259 442 0.0024183943825791853 2.091464 25 64 0.0071286 Mouse Phenotype abnormal cochlear outer hair cell morphology 74 4.695181e-15 6.066300748783784e-13 2.047563 143 0.04813194 687 0.014793539069868996 1.548999 46 159 0.01311662 Mouse Phenotype circling 76 2.702555e-14 3.399885309868421e-12 2.13941 122 0.04106361 258 0.00020228682044186048 1.915305 44 123 0.01254634 Mouse Phenotype abnormal vestibular labyrinth morphology 78 7.348538e-14 9.007611771538461e-12 2.207699 110 0.03702457 303 0.0004329365950495049 2.015002 35 93 0.00998004 Mouse Phenotype abnormal semicircular canal morphology 83 2.452067e-13 2.824603926144578e-11 2.231278 103 0.03466846 196 0.000041499476597448976 2.39738 30 67 0.00855432 Mouse Phenotype abnormal inner ear vestibule morphology 85 2.639494e-13 2.9689649569411767e-11 2.249148 101 0.03399529 253 0.00017048865317786558 2.154718 33 82 0.009409752