# 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 regulation of fibroblast growth factor receptor signaling pathway 288 0.0006812735 0.031128048564236108 2.196106 22 0.01536313 61 0.03979946021639345 4.077623 9 26 0.005646173 Human Phenotype Unilateral primary pulmonary dysgenesis 2 1.474902e-30 4.921010523e-27 62.32495 21 0.0146648 74 0.021754034105405405 9.423839 4 5 0.00250941 Human Phenotype Pierre-Robin sequence 28 7.271943e-17 1.73305984425e-14 11.19558 23 0.01606145 70 0.020844526362857146 5.8899 6 12 0.003764115 Human Phenotype Posterior embryotoxon 29 1.390166e-16 3.1988199027586214e-14 10.856 23 0.01606145 30 0.012835241907 7.06788 6 10 0.003764115 Human Phenotype Abnormality of the line of Schwalbe 30 1.692729e-16 3.765193539e-14 10.75466 23 0.01606145 48 0.016377001718750003 6.425345 6 11 0.003764115 Human Phenotype Hypocalcemia 32 6.916726e-16 1.4423535186875e-13 8.845596 25 0.0174581 101 0.03734757193168317 3.9266 8 24 0.005018821 Human Phenotype Abnormality of the umbilicus 50 4.148557e-13 5.5366641721999995e-11 3.028371 58 0.04050279 122 0.046012949503278694 2.255706 18 94 0.01129235 Human Phenotype Ventricular septal defect 73 2.207204e-10 2.017626341369863e-8 2.308462 71 0.04958101 112 0.04446209771339286 1.8956 28 174 0.01756587 Human Phenotype Hernia of the abdominal wall 85 6.817181e-10 5.351888095647059e-8 2.231504 72 0.05027933 13 0.007293065426153846 2.254159 31 162 0.01944793 Human Phenotype Abdominal wall defect 87 8.055842e-10 6.178923409885058e-8 2.222509 72 0.05027933 16 0.00763751542 2.226669 31 164 0.01944793 Human Phenotype Aplasia/Hypoplasia involving the nose 89 9.308269e-10 6.979110004157304e-8 3.212282 38 0.02653631 12 0.007552089898333333 3.464647 15 51 0.009410289 Human Phenotype Limb undergrowth 95 3.0519e-9 2.1437188105263158e-7 2.717766 46 0.03212291 80 0.02341566543625 2.332634 20 101 0.01254705 Human Phenotype Underdeveloped nasal alae 99 6.118301e-9 4.123982078080808e-7 3.229965 34 0.02374302 86 0.026549298670930237 3.072991 12 46 0.007528231 Human Phenotype Hernia 106 1.544245e-8 9.721459325471699e-7 2.04098 74 0.05167598 23 0.007084338226521739 2.135898 33 182 0.02070263 Human Phenotype Abnormal aggressive, impulsive or violent behavior 167 0.00008003112 0.0031978902021556886 2.008825 37 0.02583799 116 0.04521759410517241 2.161431 20 109 0.01254705 Mouse Phenotype Single KO abnormal pro-B cell morphology 22 3.723636e-93 1.5498788569090909e-90 9.7782 147 0.1026536 94 0.03302926003404256 2.581874 16 73 0.01003764 Mouse Phenotype Single KO abnormal long bone epiphyseal plate morphology 102 5.060747e-41 4.543260811666667e-39 4.085391 132 0.09217877 36 0.004234601234166666 2.308204 29 148 0.01819322 Mouse Phenotype Single KO abnormal epiphyseal plate morphology 110 3.116181e-39 2.5940790379090904e-37 3.846124 135 0.09427374 19 0.002194337695 2.341327 32 161 0.02007528 Mouse Phenotype Single KO abnormal cartilage development 111 4.568665e-39 3.768942829279279e-37 4.017478 128 0.08938547 105 0.048297959870476186 2.017089 25 146 0.01568381 Mouse Phenotype Single KO abnormal cartilage morphology 155 1.006765e-25 5.947707809677419e-24 2.504877 161 0.1124302 48 0.007592373933333334 1.853465 45 286 0.02823087 Mouse Phenotype Single KO abnormal skeleton development 208 6.840262e-17 3.01135957375e-15 2.0432 157 0.1096369 96 0.033958877578125 1.613254 53 387 0.03324969 Mouse Phenotype Single KO decreased vertical activity 330 9.566155e-8 0.0000026544630707575755 2.248395 53 0.03701117 90 0.03277768498888889 2.088617 25 141 0.01568381 Mouse Phenotype Single KO abnormal fourth pharyngeal arch artery morphology 339 3.728447e-7 0.000010071206247492626 4.143202 19 0.01326816 75 0.022032547816 5.153662 7 16 0.004391468 Mouse Phenotype Single KO decreased exploration in new environment 345 9.159202e-7 0.000024310380496811595 2.267868 44 0.03072626 101 0.03851958234257426 2.382431 18 89 0.01129235 Mouse Phenotype Single KO abnormal dorsal aorta morphology 397 0.00007989805 0.001842887767884131 2.031499 36 0.02513966 78 0.023942655283333333 2.600735 17 77 0.01066499 Mouse Phenotype Single KO abnormal red blood cell distribution width 411 0.0002195831 0.00489226872676399 2.247063 25 0.0174581 20 0.002279506952 2.94495 21 84 0.0131744 Mouse Phenotype decreased pre-B cell number 14 2.245637e-144 1.5336096683571428e-141 11.6545 204 0.1424581 129 0.031121551579069765 2.265346 20 104 0.01254705 Mouse Phenotype abnormal long bone hypertrophic chondrocyte zone 101 2.142967e-41 2.0286047016831682e-39 4.20911 129 0.0900838 150 0.043413613578 1.989831 25 148 0.01568381 Mouse Phenotype abnormal long bone epiphyseal plate morphology 141 7.909507e-33 5.363318895531915e-31 3.229293 140 0.09776536 70 0.011768001142285715 1.9633 35 210 0.02195734 Mouse Phenotype abnormal epiphyseal plate morphology 153 3.919125e-30 2.449068897058823e-28 3.002591 142 0.09916201 77 0.013278341633766233 1.903286 37 229 0.02321205 Mouse Phenotype abnormal cartilage development 158 2.164215e-28 1.3096240262658228e-26 2.868046 143 0.09986034 41 0.006981425876341463 2.017836 37 216 0.02321205 Mouse Phenotype abnormal cartilage morphology 195 6.10591e-21 2.9937746415384613e-19 2.099724 184 0.1284916 31 0.00628368042 1.73752 59 400 0.0370138 Mouse Phenotype decreased vertical activity 343 2.430859e-7 0.000006775930874344024 2.144066 55 0.03840782 152 0.044466613306578945 1.927604 27 165 0.01693852 Mouse Phenotype small pharyngeal arch 356 8.101601e-7 0.000021758260438483148 2.527672 36 0.02513966 38 0.0069455708376315786 3.14128 16 60 0.01003764 Mouse Phenotype decreased exploration in new environment 372 0.000002171173 0.000055802647991935485 2.148231 46 0.03212291 129 0.031121551579069765 2.265346 20 104 0.01254705 Mouse Phenotype abnormal fourth pharyngeal arch artery morphology 381 0.000004137568 0.00010383015130708661 3.145661 22 0.01536313 105 0.023312385974285716 3.9266 9 27 0.005646173 Mouse Phenotype cyclopia 387 0.000006527929 0.00016127526917054263 3.053868 22 0.01536313 72 0.011981716392083333 4.417425 9 24 0.005646173 Mouse Phenotype abnormal fourth pharyngeal arch morphology 407 0.00002220945 0.0005217310846437346 2.814881 22 0.01536313 160 0.0482404796475 3.419942 9 31 0.005646173