# 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 positive regulation of keratinocyte differentiation 13 0.000008167953 0.00826785334823077 7.003091 9 0.007431874 497 0.041932093428571425 4.274787 6 15 0.003414912 Human Phenotype Abnormality of the tarsal bones 6 0.00004631983 0.051515370931666665 2.928769 19 0.01568951 58 0.012888853479310345 2.914627 15 55 0.008537279 Human Phenotype Slow-growing hair 7 0.00004751978 0.04529992742 4.972365 10 0.008257638 73 0.018572421575342463 5.829254 6 11 0.003414912 Human Phenotype Absence of subcutaneous fat 8 0.00004830534 0.0402926917275 13.1308 5 0.004128819 146 0.03738801915410959 10.68697 3 3 0.001707456 Human Phenotype Abnormality of hair growth 10 0.00006164998 0.041139031654 4.816748 10 0.008257638 98 0.02547696926530612 5.343483 6 12 0.003414912 Human Phenotype Abnormality of the forearm 11 0.00006370722 0.03864711627818181 2.007822 38 0.03137903 24 0.005364363530833333 2.451139 25 109 0.0142288 Human Phenotype Aplasia/Hypoplasia of the nails 12 0.00006438573 0.0358038313575 2.435553 25 0.0206441 19 0.005383421677368421 2.81236 20 76 0.01138304 Human Phenotype Delayed skeletal maturation 16 0.00009404944 0.03922449457 2.144179 31 0.02559868 111 0.029546168345945943 2.178896 21 103 0.01195219 Human Phenotype Tarsal synostosis 17 0.00009473773 0.03718734542882353 4.17495 11 0.009083402 11 0.0012315961786363637 7.124644 8 12 0.004553216 Human Phenotype Abnormality of skeletal maturation 23 0.0001204319 0.03494095950869565 2.008853 35 0.02890173 115 0.02981405299043478 2.051898 24 125 0.01365965 Human Phenotype Synostosis involving bones of the feet 25 0.0001228581 0.032793284052 3.523174 13 0.01073493 10 0.0010674858157000001 6.41218 9 15 0.005122368 Human Phenotype Patellar aplasia 28 0.0001480716 0.03528863524285714 6.356102 7 0.005780347 177 0.045320829367231634 5.343483 5 10 0.00284576 Human Phenotype Abnormality of the phalanges of the toes 31 0.000158401 0.03409709267741935 2.659273 19 0.01568951 2 0.0000087910602475 5.190812 17 35 0.009675583 Human Phenotype Proptosis 35 0.0001848746 0.035247663022857145 2.009245 33 0.02725021 63 0.014569754055555557 2.275928 23 108 0.0130905 Human Phenotype Abnormality of dental eruption 43 0.0002809644 0.043601754446511626 2.067196 29 0.02394715 70 0.01684886742285714 2.531124 18 76 0.01024474 Human Phenotype Abnormality of sodium homeostasis 44 0.0002908965 0.04411709873863637 3.964878 10 0.008257638 167 0.04322158041317365 3.562322 8 24 0.004553216 Human Phenotype Aplasia/Hypoplasia of the patella 45 0.0002974136 0.04410313228444444 4.350938 9 0.007431874 141 0.03695325667234042 4.156042 7 18 0.003984064 Human Phenotype Axenfeld anomaly 53 0.0003849106 0.048462423279245284 6.51223 6 0.004954583 146 0.03738801915410959 10.68697 3 3 0.001707456 Mouse Phenotype Single KO small heart 4 0.000001709737 0.00391401542725 2.051986 52 0.04293972 72 0.000032887607143055556 2.402987 38 169 0.02162777 Mouse Phenotype Single KO abnormal sternum ossification 10 0.00003140738 0.028759737866 2.609252 24 0.01981833 223 0.0035693542521973098 3.466043 12 37 0.006829824 Mouse Phenotype Single KO abnormal vibrissa number 11 0.00004725617 0.039338613517272726 4.975732 10 0.008257638 299 0.00960564706187291 6.679354 5 8 0.00284576 Mouse Phenotype abnormal vibrissa number 12 0.00004725617 0.0376513534475 4.975732 10 0.008257638 458 0.006547604518558952 6.679354 5 8 0.00284576 Mouse Phenotype abnormal inguinal fat pad morphology 13 0.00004733066 0.03480988002 2.602104 23 0.01899257 319 0.0017271083312539186 2.838725 17 64 0.009675583 Mouse Phenotype abnormal canal of Schlemm morphology 15 0.00005465964 0.034840054536000004 3.826559 13 0.01073493 623 0.015829747150882825 4.580128 6 14 0.003414912 Mouse Phenotype cornea ulcer 16 0.00005734877 0.034269474373125 9.296687 6 0.004954583 810 0.03591638045185185 8.015225 3 4 0.001707456 Mouse Phenotype decreased fetal weight 21 0.00008309702 0.03783288610571428 2.566503 22 0.0181668 438 0.00546514181780822 2.466223 18 78 0.01024474 Mouse Phenotype decreased molar number 25 0.0001249669 0.04779234123599999 4.900433 9 0.007431874 551 0.011300031376225044 5.937204 5 9 0.00284576 Mouse Phenotype decreased memory T cell number 27 0.0001263891 0.04475578463333334 2.627193 20 0.01651528 669 0.01977351998206278 2.52601 13 55 0.007398976