# 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 platelet-derived growth factor receptor-beta signaling pathway 29 8.049403e-8 0.00003652486002655172 12.36284 9 0.006823351 327 0.043536732587155964 6.946726 4 6 0.002219756 GO Biological Process middle ear morphogenesis 76 0.00005344887 0.009254390530657894 3.420065 15 0.01137225 205 0.013038232475121952 4.387406 8 19 0.004439512 GO Biological Process negative regulation of vascular smooth muscle cell differentiation 82 0.00006687069 0.010731114752560975 12.25004 5 0.003790751 304 0.038201559596381586 10.42009 3 3 0.001664817 GO Biological Process embryonic placenta development 98 0.0001912815 0.02568442100510204 2.08741 30 0.0227445 216 0.014626143210185185 2.341593 20 89 0.01109878 Mouse Phenotype Single KO abnormal vertebral body morphology 34 0.000003878745 0.0010446372930882355 2.975612 24 0.0181956 152 0.026180603994078944 2.701505 14 54 0.007769145 Mouse Phenotype Single KO abnormal occipital bone morphology 66 0.00006515491 0.009039750164696969 2.159155 32 0.0242608 68 0.001279677957132353 2.805409 21 78 0.01165372 Mouse Phenotype Single KO abnormal trabecular bone volume 70 0.00008301125 0.010859057375 2.349309 26 0.0197119 193 0.03589685862331606 2.259778 18 83 0.009988901 Mouse Phenotype Single KO abnormal cervical atlas morphology 74 0.0001406374 0.017402927997297295 2.685765 19 0.01440485 199 0.03847811893266332 2.77869 12 45 0.006659267 Mouse Phenotype Single KO decreased trabecular bone volume 78 0.0001729051 0.020298615393589743 2.825358 17 0.01288855 199 0.03847811893266332 2.77869 12 45 0.006659267 Mouse Phenotype Single KO increased heart right ventricle size 90 0.000229639 0.023364492477777776 2.094409 29 0.02198635 170 0.031212587905294117 2.249792 19 88 0.01054384 Mouse Phenotype Single KO absent placental labyrinth 95 0.0002963503 0.028565049443157898 3.212785 13 0.009855951 138 0.020579979276086957 4.168036 8 20 0.004439512 Mouse Phenotype Single KO abnormal duodenum morphology 96 0.0003118998 0.02975069238125 3.034314 14 0.0106141 90 0.004231928916333333 3.952447 11 29 0.006104329 Mouse Phenotype Single KO abnormal maxillary shelf morphology 106 0.000417846 0.036096375679245285 2.707648 16 0.0121304 155 0.027120245545806453 3.969558 8 21 0.004439512 Mouse Phenotype Single KO cervical vertebral fusion 108 0.0004413659 0.03742210691018519 2.517813 18 0.0136467 222 0.0426221227027027 2.865524 11 40 0.006104329 Mouse Phenotype abnormal vertebral body morphology 49 0.00004968463 0.009694586682244898 2.379591 27 0.02047005 176 0.004298443615056818 2.767836 17 64 0.009433962 Mouse Phenotype abnormal cervical atlas morphology 60 0.0001025998 0.01634927813 2.670579 20 0.015163 372 0.031096715572580647 2.555871 13 53 0.007214206 Mouse Phenotype abnormal jejunum morphology 62 0.0001161062 0.017904699648387097 4.078629 11 0.008339651 451 0.0483465638713969 3.206181 8 26 0.004439512 Mouse Phenotype cervical vertebral fusion 73 0.0001765493 0.02312312133287671 2.560988 20 0.015163 274 0.015231761697810218 2.822107 13 48 0.007214206 Mouse Phenotype abnormal metacarpal bone morphology 79 0.0002357193 0.02852800287721519 2.327495 23 0.01743745 303 0.021175567115841586 2.841842 12 44 0.006659267 Mouse Phenotype absent squamosal bone 99 0.0004017612 0.03880039225454546 3.519043 11 0.008339651 309 0.02267320602815534 5.788938 5 9 0.002774695 Mouse Phenotype absent alisphenoid bone 105 0.000442439 0.040287231228571425 3.477923 11 0.008339651 260 0.01300592391 6.512555 5 8 0.002774695 Mouse Phenotype abnormal gastric parietal cell morphology 111 0.0004894338 0.0421574465027027 3.04338 13 0.009855951 253 0.012140531346640317 3.473363 10 30 0.00554939 Mouse Phenotype abnormal atrioventricular bundle morphology 113 0.0004914928 0.04158551027256637 6.214575 6 0.004548901 180 0.004491970797833333 10.42009 4 4 0.002219756