# 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 pericyte cell differentiation 93 1.971078e-17 2.788969398064516e-15 9.22785 27 0.007648725 517 0.026164240775628626 3.871014 6 8 0.001649258 GO Biological Process regulation of phospholipid metabolic process 127 9.019688e-16 9.345675148976377e-14 2.979498 74 0.02096317 591 0.03972891358037225 1.826325 23 65 0.006322155 GO Biological Process positive regulation of lipid metabolic process 163 3.576539e-14 2.8873421288957054e-12 2.297779 104 0.02946176 369 0.007556261544715448 1.693569 42 128 0.0115448 GO Biological Process regulation of pri-miRNA transcription from RNA polymerase II promoter 167 5.691274e-14 4.484519435089821e-12 3.639613 49 0.01388102 424 0.012869148196698113 2.491687 14 29 0.003848268 GO Biological Process regulation of lymphocyte differentiation 176 1.146405e-13 8.571331474431819e-12 2.075442 125 0.03541076 307 0.00270209477791531 1.686716 50 153 0.01374382 GO Biological Process mammary gland epithelium development 179 1.50699e-13 1.1078481234636872e-11 2.530756 82 0.02322946 223 0.0003821231978475336 2.389515 25 54 0.006871908 GO Biological Process metanephric tubule development 212 9.150696e-12 5.679906069056604e-10 3.737131 39 0.01104816 464 0.019726361956896553 2.867418 10 18 0.002748763 GO Biological Process metanephric epithelium development 226 3.364185e-11 1.9588190449115043e-9 3.502452 40 0.01133144 475 0.02013646971473684 2.703566 11 21 0.003023639 GO Biological Process regulation of T cell differentiation 239 5.23379e-11 2.881650318410042e-9 2.015631 105 0.02974504 397 0.010121693979596976 1.679488 41 126 0.01126993 GO Biological Process lens fiber cell differentiation 243 6.078354e-11 3.29156626691358e-9 3.254209 43 0.0121813 587 0.03920525656218058 2.382163 12 26 0.003298516 GO Biological Process metanephric tubule morphogenesis 254 1.622362e-10 8.40498486535433e-9 4.789394 26 0.007365439 469 0.019729016541577826 3.612947 7 10 0.001924134 GO Biological Process negative regulation of ERK1 and ERK2 cascade 259 1.887836e-10 9.59151888957529e-9 2.424709 66 0.01869688 292 0.0019106953623630135 2.187014 25 59 0.006871908 GO Biological Process mammary gland duct morphogenesis 289 7.016717e-10 3.194912768269896e-8 2.727372 50 0.01416431 424 0.012869148196698113 2.491687 14 29 0.003848268 GO Biological Process glomerulus vasculature development 324 2.434835e-9 9.888886964506173e-8 3.447436 33 0.009348442 547 0.029212763489945153 2.716501 10 19 0.002748763 GO Biological Process metanephric nephron epithelium development 343 3.606244e-9 1.3835150086297377e-7 3.31721 34 0.009631728 464 0.019726361956896553 2.867418 10 18 0.002748763 GO Biological Process notochord morphogenesis 350 4.410436e-9 1.6581979235428572e-7 3.824253 28 0.007932011 469 0.019729016541577826 3.612947 7 10 0.001924134 GO Biological Process metanephric nephron tubule development 352 4.799418e-9 1.794191518806818e-7 3.350282 33 0.009348442 537 0.02833436557728119 2.903261 9 16 0.002473887 GO Biological Process activation of MAPKKK activity 371 6.500747e-9 2.3057501286522912e-7 3.553228 30 0.008498584 329 0.0046693771571428575 3.15416 11 18 0.003023639 GO Biological Process cellular response to amino acid stimulus 406 1.307801e-8 4.238756984975369e-7 2.233075 62 0.01756374 405 0.010400317997777778 1.997943 24 62 0.006597031 GO Biological Process embryonic placenta development 436 2.398501e-8 7.238962077752293e-7 2.001923 77 0.02181303 315 0.0030358234923492065 1.91376 33 89 0.009070918 GO Cellular Component cleavage furrow 74 8.827684e-7 0.000020613835070270268 2.491893 37 0.01048159 59 0.031660416 1.985136 20 52 0.005497526 GO Molecular Function neurotrophin binding 83 2.469182e-7 0.000012560104101204819 3.911567 21 0.005949008 40 0.0064305092010000005 4.129082 8 10 0.00219901 GO Molecular Function phosphoprotein binding 87 3.813548e-7 0.00001850666627126437 2.048694 60 0.01699717 29 0.0026981025848275865 2.077947 31 77 0.008521165 GO Molecular Function kinesin binding 91 5.421544e-7 0.000025153581063736265 2.94379 29 0.008215297 73 0.038765432361643835 2.193575 17 40 0.004672897 GO Molecular Function protein phosphorylated amino acid binding 121 0.000008678549 0.00030281680890909094 2.193297 39 0.01104816 43 0.0072974520790697675 2.346069 20 44 0.005497526 GO Molecular Function voltage-gated calcium channel activity 148 0.00003919713 0.001118177586891892 2.066664 38 0.01076487 73 0.038765432361643835 2.193575 17 40 0.004672897 GO Molecular Function calcium-release channel activity 163 0.00007094136 0.0018375117909202453 2.754068 20 0.005665722 49 0.010058983930612244 3.15416 11 18 0.003023639 GO Molecular Function calcium-dependent protein binding 164 0.00007590256 0.0019540280995121954 2.021743 37 0.01048159 27 0.002017671908148148 2.274494 26 59 0.007146784 GO Molecular Function ligand-gated calcium channel activity 265 0.001059928 0.016886852890566035 2.12517 22 0.006232295 70 0.02632413984285714 2.69288 12 23 0.003298516 Human Phenotype Abnormality of the shoulder 1 2.65157e-19 1.769392661e-15 4.272822 58 0.01643059 122 0.013712615713934426 2.497429 15 31 0.004123145 Human Phenotype Abnormality of the synovia 4 7.319653e-14 1.221101111725e-10 2.314036 100 0.02832861 220 0.031557193304545456 1.591094 41 133 0.01126993 Human Phenotype Abnormality of the hip joint 6 8.500355e-14 9.453811485833332e-11 2.343037 97 0.02747875 265 0.04350075819622642 1.5726 39 128 0.01072018 Human Phenotype Abnormality of the sclera 9 1.050295e-12 7.787353927777778e-10 2.981808 58 0.01643059 183 0.02518970714535519 2.007193 21 54 0.005772402 Human Phenotype Non-midline cleft palate 11 3.81365e-12 2.313498768181818e-9 8.540489 19 0.005382436 241 0.0389647822406639 5.161352 4 4 0.001099505 Human Phenotype Abnormality of the odontoid process 14 4.436445e-12 2.114599820357143e-9 5.932714 25 0.007082153 124 0.013629930768548388 2.815283 12 22 0.003298516 Human Phenotype Blue sclerae 18 1.098942e-11 4.074022203333334e-9 2.935227 54 0.01529745 247 0.040536016526315784 2.01966 18 46 0.004947774 Human Phenotype Abnormality of the vocal cords 23 2.305865e-11 6.69001615e-9 4.865655 28 0.007932011 284 0.04784714873943663 2.732481 9 17 0.002473887 Human Phenotype Abnormality of the wrist 27 3.597384e-11 8.890867937777778e-9 2.44834 70 0.01983003 30 0.0015761149992666666 2.162188 31 74 0.008521165 Human Phenotype Hypoplasia of the odontoid process 31 5.184307e-11 1.1159638906774193e-8 5.777757 23 0.006515581 185 0.02508947003243243 2.867418 10 18 0.002748763 Human Phenotype Abnormality of the upper arm 35 1.638385e-10 3.12369803e-8 2.783069 52 0.01473088 120 0.013093621579166666 2.428872 16 34 0.004398021 Human Phenotype Hyperlordosis 37 1.8202e-10 3.282755297297297e-8 2.44633 65 0.0184136 161 0.020277576677639755 1.825356 29 82 0.007971413 Human Phenotype Hypotelorism 40 1.923031e-10 3.2080964657500004e-8 2.679144 55 0.01558074 225 0.032095409848888895 2.173201 16 38 0.004398021 Human Phenotype Mitral valve prolapse 42 2.53897e-10 4.033939716666667e-8 2.813648 50 0.01416431 210 0.029879711165714282 2.140073 17 41 0.004672897 Human Phenotype Hypochloremic metabolic alkalosis 45 3.316193e-10 4.917545753111112e-8 45.89329 7 0.001983003 241 0.0389647822406639 5.161352 4 4 0.001099505 Human Phenotype Aplasia/Hypoplasia of the lens 50 4.708845e-10 6.284424537e-8 5.679948 21 0.005949008 251 0.04279296533067729 3.284497 7 11 0.001924134 Human Phenotype Abnormality of the carpal bones 64 1.779281e-9 1.85517845515625e-7 2.464701 57 0.01614731 41 0.003769880426341463 2.293934 24 54 0.006597031 Human Phenotype Distal amyotrophy 79 5.151448e-9 4.351343354936708e-7 2.433968 55 0.01558074 64 0.0075771404098437505 1.91376 33 89 0.009070918 Human Phenotype Abnormality of the metaphysis 96 6.004799e-9 4.1739608048958334e-7 2.201276 67 0.01898017 200 0.027398113504499996 1.739151 31 92 0.008521165 Human Phenotype Abnormal mitral valve morphology 101 8.296929e-9 5.481723486831683e-7 2.470213 52 0.01473088 211 0.03007710853554502 2.043035 19 48 0.00522265 Mouse Phenotype Single KO extramedullary hematopoiesis 17 2.889034e-20 1.5561696669411764e-17 3.048919 94 0.0266289 160 0.0013756315005625 1.856276 41 114 0.01126993 Mouse Phenotype Single KO small alisphenoid bone 29 2.782325e-18 8.785431043103448e-16 6.675618 36 0.0101983 293 0.009620616097269625 4.424016 6 7 0.001649258 Mouse Phenotype Single KO abnormal body temperature 38 5.421022e-16 1.3063236435263158e-13 2.631391 92 0.02606232 349 0.01547165145730659 1.720451 34 102 0.009345794 Mouse Phenotype Single KO abnormal vertebral body morphology 53 9.792187e-15 1.6918312520566036e-12 3.057588 66 0.01869688 477 0.03561293599161426 1.911612 20 54 0.005497526 Mouse Phenotype Single KO abnormal central nervous system regeneration 63 6.130449e-14 8.910558967142857e-12 8.654531 22 0.006232295 525 0.04494232925523809 3.440902 6 9 0.001649258 Mouse Phenotype Single KO decreased body temperature 65 1.232846e-13 1.7367955110769232e-11 2.888582 66 0.01869688 417 0.025902715525179854 1.848843 24 67 0.006597031 Mouse Phenotype Single KO abnormal heart ventricle wall thickness 71 2.463109e-13 3.1767167764788735e-11 2.177102 109 0.03087819 277 0.008553309072563176 1.668708 43 133 0.01181968 Mouse Phenotype Single KO ocular hypertension 72 2.834385e-13 3.604786589583333e-11 6.432022 26 0.007365439 525 0.04494232925523809 3.440902 6 9 0.001649258 Mouse Phenotype Single KO thin ventricular wall 91 5.621113e-12 5.656322169340659e-10 2.272588 88 0.02492918 380 0.020287278076052632 1.720451 32 96 0.008796042 Mouse Phenotype Single KO absent incisors 97 8.130965e-12 7.675798608762887e-10 3.358116 45 0.01274788 370 0.017988938874324324 2.703566 11 21 0.003023639 Mouse Phenotype Single KO increased susceptibility to age-related hearing loss 100 1.294606e-11 1.1854707142000002e-9 3.855413 37 0.01048159 370 0.017988938874324324 2.703566 11 21 0.003023639 Mouse Phenotype Single KO abnormal parietal bone morphology 117 6.468305e-11 5.062416144017094e-9 2.316827 76 0.02152975 365 0.017330593392876712 2.007193 21 54 0.005772402 Mouse Phenotype Single KO abnormal susceptibility to hearing loss 124 1.524627e-10 1.1258878579838708e-8 2.85742 50 0.01416431 540 0.047725860064814815 2.125263 14 34 0.003848268 Mouse Phenotype Single KO abnormal basicranium morphology 132 2.376628e-10 1.6486956512121212e-8 2.09559 89 0.02521246 317 0.011411756707570978 1.917074 26 70 0.007146784 Mouse Phenotype Single KO increased transitional stage B cell number 134 2.722878e-10 1.8607010332835822e-8 3.773168 33 0.009348442 271 0.008558115305166052 2.815283 12 22 0.003298516 Mouse Phenotype Single KO abnormal frontal bone morphology 138 3.349081e-10 2.2222851244202896e-8 2.121913 85 0.02407932 533 0.04617521189681051 1.802377 22 63 0.006047279 Mouse Phenotype Single KO abnormal mean corpuscular hemoglobin concentration 141 4.562274e-10 2.9628895757446812e-8 2.428135 63 0.01784703 366 0.017396513634426233 1.833638 27 76 0.00742166 Mouse Phenotype Single KO increased T cell proliferation 142 4.689837e-10 3.024284324577465e-8 2.301542 70 0.01983003 497 0.039229859293762576 1.598649 35 113 0.009620671 Mouse Phenotype Single KO abnormal lymph node cortex morphology 144 5.232007e-10 3.327047784652778e-8 2.897782 46 0.01303116 531 0.04525958479096045 1.935507 18 48 0.004947774 Mouse Phenotype Single KO abnormal nervous system regeneration 155 9.670021e-10 5.7127988578709675e-8 3.353294 36 0.0101983 323 0.011887736469349845 2.838744 11 20 0.003023639 Mouse Phenotype extramedullary hematopoiesis 29 1.389078e-19 4.5796464682758615e-17 2.435735 132 0.03739377 193 0.0002441987890103627 1.740113 59 175 0.0162177 Mouse Phenotype abnormal body temperature 45 1.681361e-17 3.5723316713333334e-15 2.479877 113 0.03201133 392 0.005239515805102042 1.68135 43 132 0.01181968 Mouse Phenotype small alisphenoid bone 48 5.364255e-17 1.0684925428125e-14 4.308873 50 0.01416431 383 0.004652959255613577 3.225845 10 16 0.002748763 Mouse Phenotype abnormal keratinocyte physiology 60 1.223701e-15 1.9499675434999998e-13 2.578943 93 0.02634561 337 0.003005306009198813 1.781352 39 113 0.01072018 Mouse Phenotype abnormal vertebral body morphology 67 5.278722e-15 7.532815080895523e-13 2.700366 82 0.02322946 316 0.0021571016868037977 2.096799 26 64 0.007146784 Mouse Phenotype abnormal central nervous system regeneration 82 8.366535e-14 9.755175748170731e-12 7.99658 23 0.006515581 621 0.024782019623188406 3.284497 7 11 0.001924134 Mouse Phenotype progressive hair loss 88 2.192012e-13 2.3815712195454544e-11 4.144336 40 0.01133144 360 0.003711224318333333 2.949344 12 21 0.003298516 Mouse Phenotype increased transitional stage B cell number 92 3.59513e-13 3.7361997750000005e-11 3.568959 47 0.01331445 633 0.026372062497630334 2.150563 15 36 0.004123145 Mouse Phenotype absent upper incisors 113 8.646364e-12 7.315742141946903e-10 5.500255 26 0.007365439 551 0.01783723411796733 3.871014 6 8 0.001649258 Mouse Phenotype decreased body temperature 115 9.508784e-12 7.90552033252174e-10 2.417729 76 0.02152975 606 0.023488852643564356 1.684231 31 95 0.008521165 Mouse Phenotype abnormal lymph node secondary follicle morphology 116 9.794075e-12 8.072513023706896e-10 3.808529 38 0.01076487 526 0.01563287664125475 2.277067 15 34 0.004123145 Mouse Phenotype increased keratinocyte proliferation 117 1.196092e-11 9.77421847179487e-10 3.265571 46 0.01303116 448 0.009396952020535714 2.106674 20 49 0.005497526 Mouse Phenotype increased body temperature 118 1.206794e-11 9.778099520338983e-10 3.55784 41 0.01161473 793 0.04660496790416141 2.064541 14 35 0.003848268 Mouse Phenotype abnormal lymph node cortex morphology 127 2.106664e-11 1.585969645984252e-9 2.849745 55 0.01558074 680 0.031553127838235294 1.798653 23 66 0.006322155 Mouse Phenotype abnormal white adipose tissue physiology 130 2.7478e-11 2.0209012153846155e-9 3.67201 38 0.01076487 753 0.04141156056972112 2.164438 13 31 0.003573392 Mouse Phenotype abnormal keratinocyte proliferation 141 6.308075e-11 4.277411707446808e-9 2.602281 61 0.01728045 405 0.006067823729629629 1.935507 27 72 0.00742166 Mouse Phenotype increased immature B cell number 150 1.017418e-10 6.485022331999999e-9 2.46253 66 0.01869688 536 0.016493747099440296 1.876855 24 66 0.006597031 Mouse Phenotype increased susceptibility to age-related hearing loss 159 1.817678e-10 1.0930075067924528e-8 3.244492 41 0.01161473 446 0.009275066075784754 2.580676 13 26 0.003573392 Mouse Phenotype abnormal mean corpuscular hemoglobin concentration 164 2.246783e-10 1.309847089207317e-8 2.414095 66 0.01869688 422 0.007366514873459716 1.84334 30 84 0.008246289 Mouse Phenotype caudal vertebral transformation 170 3.973929e-10 2.234984421705882e-8 11.14227 13 0.00368272 551 0.01783723411796733 3.871014 6 8 0.001649258