# 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 negative regulation of cell-cell adhesion 106 2.388979e-10 2.9657145906603777e-8 2.063899 92 0.03052422 532 0.006945780270300753 1.619999 47 145 0.01250998 GO Biological Process adrenergic receptor signaling pathway 155 2.867893e-7 0.000024347486443225807 2.850837 32 0.01061712 237 0.000013633157081012658 4.06077 13 16 0.003460208 GO Biological Process positive regulation of epithelial to mesenchymal transition 190 0.000002755245 0.00019082246818421055 2.030126 52 0.01725282 249 0.00002175150991566265 2.726111 24 44 0.006388076 GO Biological Process adenylate cyclase-activating adrenergic receptor signaling pathway 214 0.000008101071 0.0004981401555560747 2.716902 26 0.00862641 323 0.00016464096734674925 3.926898 11 14 0.002927868 GO Biological Process embryonic forelimb morphogenesis 220 0.00001089872 0.0006518920749090908 2.169628 39 0.01293962 342 0.000251145286491228 2.811302 18 32 0.004791057 GO Biological Process regulation of systemic arterial blood pressure by norepinephrine-epinephrine 221 0.00001130961 0.0006734079547058824 3.265493 19 0.006303915 856 0.04713146424415888 3.331914 6 9 0.001597019 GO Biological Process regulation of homotypic cell-cell adhesion 231 0.00001589005 0.0009051825452380953 2.610243 26 0.00862641 562 0.008593690998398575 2.598893 13 25 0.003460208 GO Biological Process regulation of dopaminergic neuron differentiation 271 0.00004403629 0.002138278745793358 3.056611 18 0.00597213 647 0.017564820314064915 3.498509 7 10 0.001863189 GO Biological Process B cell receptor signaling pathway 272 0.00004472069 0.0021635277930514706 2.358544 28 0.00928998 782 0.02931423025959079 2.141945 15 35 0.003992547 GO Biological Process adrenergic receptor signaling pathway involved in heart process 274 0.00004845966 0.0023273017005109487 3.650399 14 0.00464499 763 0.027605995331585847 4.997871 4 4 0.001064679 GO Biological Process anterior/posterior axis specification 275 0.00004908896 0.002348951362327273 2.001339 40 0.0132714 578 0.009957724923529412 2.057947 21 51 0.005589566 GO Biological Process positive regulation of alpha-beta T cell activation 282 0.00005414451 0.002526551798191489 2.012115 39 0.01293962 661 0.018368474902874434 1.999148 20 50 0.005323396 GO Biological Process positive regulation of alpha-beta T cell differentiation 295 0.00006785491 0.0030267890192881355 2.105365 34 0.01128069 805 0.03506469739378882 2.050408 16 39 0.004258717 GO Biological Process regulation of cellular senescence 319 0.00008566822 0.003533881213103448 2.450344 24 0.00796284 869 0.046935881596087456 2.165744 13 30 0.003460208 GO Biological Process outer ear morphogenesis 333 0.00009838003 0.0038876360803903904 3.24028 15 0.004976775 541 0.007626041837338263 3.887233 7 9 0.001863189 GO Biological Process cartilage development involved in endochondral bone morphogenesis 351 0.0001347261 0.005050885327350427 2.376082 24 0.00796284 826 0.039725236728813555 2.390286 11 23 0.002927868 GO Biological Process paraxial mesoderm development 372 0.0001961874 0.0069398655822580655 2.546028 20 0.0066357 583 0.011100598346483704 2.939924 10 17 0.002661698 GO Biological Process positive regulation of core promoter binding 432 0.0003207777 0.009771096653472222 3.031098 14 0.00464499 444 0.001895579734527027 4.997871 6 6 0.001597019 GO Biological Process regulation of core promoter binding 460 0.0004630615 0.013246578866304348 2.918889 14 0.00464499 565 0.00864134062300885 4.283889 6 7 0.001597019 GO Biological Process nose development 464 0.0004742006 0.013448288136637933 2.680695 16 0.00530856 733 0.026448818053206 2.811302 9 16 0.002395528 Human Phenotype Holoprosencephaly 56 0.00001567415 0.0018677429098214286 2.737528 24 0.00796284 109 0.023327583596330276 3.212917 9 14 0.002395528 Human Phenotype Broad metatarsal 108 0.000103321 0.006383898453703703 4.140777 11 0.003649635 65 0.008661869170923079 4.373137 7 8 0.001863189 Human Phenotype Supernumerary ribs 150 0.0002375624 0.010568359301333333 2.580121 19 0.006303915 90 0.01829709908 3.123669 10 16 0.002661698 Human Phenotype Abnormal mitral valve physiology 151 0.0002397586 0.010595424753642385 2.065463 30 0.00995355 153 0.03811305321045752 2.092132 18 43 0.004791057 Human Phenotype Supernumerary bones of the axial skeleton 156 0.0002567249 0.010981572164743589 2.563744 19 0.006303915 118 0.027811932983050847 2.939924 10 17 0.002661698 Human Phenotype Mitral regurgitation 170 0.0003215545 0.012621959873529412 2.087326 28 0.00928998 166 0.04418510870481928 2.161241 16 37 0.004258717 Human Phenotype Short thumb 175 0.0003730045 0.014223194448571428 2.067275 28 0.00928998 143 0.03605266507762238 2.064338 19 46 0.005057227 Human Phenotype Abnormality of cartilage morphology 194 0.0005081036 0.017477192385567008 2.768271 15 0.004976775 30 0.0028429004143333335 4.997871 7 7 0.001863189 Human Phenotype Congenital diaphragmatic hernia 263 0.001117866 0.028363193224334598 2.039264 24 0.00796284 107 0.023118184421495328 2.498935 14 28 0.003726377 Human Phenotype Abnormality of the parietal bone 288 0.001407939 0.032622142177083334 2.410969 16 0.00530856 132 0.029338850505303028 3.331914 8 12 0.002129359 Mouse Phenotype Single KO oligodactyly 32 4.255805e-9 0.00000121782519953125 2.520455 52 0.01725282 282 0.00016788898402836881 2.447937 24 49 0.006388076 Mouse Phenotype Single KO abnormal occipital bone morphology 34 6.441911e-9 0.0000017349582066764705 2.126022 72 0.02388852 290 0.00018288054114137933 2.114484 33 78 0.008783604 Mouse Phenotype Single KO abnormal metacarpal bone morphology 46 2.52155e-8 0.000005019528989130435 2.573028 45 0.01493033 560 0.005668336706785714 2.351939 16 34 0.004258717 Mouse Phenotype Single KO abnormal intramembranous bone ossification 51 4.236597e-8 0.000007606768378235295 2.205987 59 0.01957532 147 0.000001710875815170068 2.887659 26 45 0.006920415 Mouse Phenotype Single KO abnormal cervical atlas morphology 98 9.723671e-7 0.00009085679117040817 2.412574 39 0.01293962 1047 0.038671506555873925 1.888084 17 45 0.004524887 Mouse Phenotype Single KO premature suture closure 102 0.000001326451 0.00011908148830392157 2.940153 27 0.008958195 347 0.0004983191899711816 4.089167 9 11 0.002395528 Mouse Phenotype Single KO abnormal pharynx morphology 107 0.000001702081 0.0001456631375420561 3.337993 22 0.00729927 802 0.018102475583541146 2.498935 11 22 0.002927868 Mouse Phenotype Single KO unidirectional circling 115 0.000002079072 0.00016554836786086957 3.541287 20 0.0066357 547 0.00524855133820841 3.887233 7 9 0.001863189 Mouse Phenotype Single KO hemimelia 161 0.000008980049 0.0005107472589627329 4.269663 14 0.00464499 818 0.017918637009779952 4.997871 4 4 0.001064679 Mouse Phenotype Single KO abnormal testis development 170 0.00001064614 0.000573451199882353 2.42642 31 0.01028534 307 0.0002568357746188925 2.961701 16 27 0.004258717 Mouse Phenotype Single KO anal atresia 187 0.00001400108 0.0006856036874866311 2.630128 26 0.00862641 748 0.015229143810160429 3.075613 8 13 0.002129359 Mouse Phenotype Single KO abnormal carpal bone morphology 189 0.00001486255 0.0007200866156084656 2.189725 37 0.01227605 268 0.00012003552536940298 2.901989 18 31 0.004791057 Mouse Phenotype Single KO microdontia 194 0.00001674883 0.0007905620428350516 2.368579 31 0.01028534 917 0.024900469328244274 2.390286 11 23 0.002927868 Mouse Phenotype Single KO abnormal anus morphology 203 0.00002050942 0.0009251465957635467 2.272641 33 0.01094891 276 0.0001481546529963768 3.331914 14 21 0.003726377 Mouse Phenotype Single KO abnormal anal canal morphology 209 0.00002592678 0.0011359403084210526 2.214105 34 0.01128069 262 0.00010610666759923664 3.259481 15 23 0.003992547 Mouse Phenotype Single KO decreased thyroxine level 210 0.00002592989 0.0011306666796666667 2.278007 32 0.01061712 947 0.02803207172650475 1.914078 18 47 0.004791057 Mouse Phenotype Single KO decreased brain weight 218 0.00003239459 0.0013607213790366973 2.020626 41 0.01360319 677 0.010815830451255538 1.91585 23 60 0.006121906 Mouse Phenotype Single KO prolonged QT interval 220 0.00003288757 0.0013688703567727271 2.610457 24 0.00796284 997 0.03471133060381144 2.290691 11 24 0.002927868 Mouse Phenotype Single KO small parietal bone 221 0.00003356585 0.0013907804907239817 2.494102 26 0.00862641 781 0.01727386563252241 2.811302 9 16 0.002395528 Mouse Phenotype Single KO decreased midbrain size 222 0.00003383215 0.001395499988963964 2.670321 23 0.007631055 798 0.018077616290726815 2.630458 10 19 0.002661698 Mouse Phenotype abnormal metacarpal bone morphology 45 1.933598e-9 4.108251217333333e-7 2.479993 56 0.01857996 500 0.0006279586399800001 2.385347 21 44 0.005589566 Mouse Phenotype abnormal xiphoid process morphology 47 1.950165e-9 3.9671335244680855e-7 2.150956 75 0.02488388 291 0.000010330098668041237 2.457969 30 61 0.007985094 Mouse Phenotype microdontia 61 1.084898e-8 0.0000017004442259016393 2.72184 43 0.01426676 573 0.001389374485445026 2.677431 15 28 0.003992547 Mouse Phenotype abnormal intramembranous bone ossification 68 2.473239e-8 0.0000034774467763235295 2.130925 66 0.02189781 216 0.0000012331255486111112 2.626 31 59 0.008251264 Mouse Phenotype oligodactyly 84 7.676823e-8 0.0000087378696075 2.051614 67 0.0222296 302 0.000013892880150993378 2.322954 33 71 0.008783604 Mouse Phenotype abnormal carpal bone morphology 108 3.048695e-7 0.000026989419347222222 2.254938 49 0.01625747 238 0.0000026756791929831935 2.925583 24 41 0.006388076 Mouse Phenotype small incisors 112 3.805901e-7 0.000032489481661607145 2.623251 36 0.01194426 610 0.0018950873773770493 2.824883 13 23 0.003460208 Mouse Phenotype abnormal cervical atlas morphology 124 6.192377e-7 0.000047746222981451615 2.395857 41 0.01360319 1336 0.037839468078592814 1.791689 19 53 0.005057227 Mouse Phenotype abnormal tracheal cartilage morphology 125 6.860404e-7 0.0000524738581152 2.115648 53 0.01758461 165 9.145392021818182e-8 3.331914 24 36 0.006388076 Mouse Phenotype hydroureter 141 0.000001108619 0.00007517380325531915 2.152293 49 0.01625747 384 0.0000874708750703125 2.901989 18 31 0.004791057 Mouse Phenotype unidirectional circling 152 0.000001544483 0.00009715001291447368 3.478342 21 0.006967485 826 0.006717677823123486 3.331914 8 12 0.002129359 Mouse Phenotype premature suture closure 160 0.000001999067 0.00011945674741875001 2.874769 27 0.008958195 645 0.002454369475348837 3.460064 9 13 0.002395528 Mouse Phenotype abnormal clavicle morphology 178 0.000003714717 0.0001995303889719101 2.176192 43 0.01426676 535 0.0009697797358317757 2.43486 19 39 0.005057227 Mouse Phenotype polyphalangy 216 0.000007174745 0.00031758211548611114 3.517701 18 0.00597213 1066 0.017615846521575985 3.180463 7 11 0.001863189 Mouse Phenotype abnormal ureter development 221 0.000008031954 0.00034748195562895923 2.34857 34 0.01128069 761 0.004611177328383705 2.598893 13 25 0.003460208 Mouse Phenotype abnormal rostral-caudal body axis extension 222 0.000008117887 0.0003496176468783784 2.60223 28 0.00928998 998 0.015189095104208416 2.498935 11 22 0.002927868 Mouse Phenotype hemimelia 226 0.000008980049 0.00037990375437610614 4.269663 14 0.00464499 1013 0.015107720238894373 4.997871 4 4 0.001064679 Mouse Phenotype abnormal anal canal morphology 227 0.000009131682 0.00038461679119823784 2.002933 48 0.01592568 286 0.000010315844293006991 2.893504 22 38 0.005855736 Mouse Phenotype interstitial pneumonia 231 0.000009592856 0.00039704457236363635 3.305182 19 0.006303915 747 0.004448451717670683 2.726111 12 22 0.003194038 Mouse Phenotype abnormal nasolacrimal duct morphology 241 0.00001116963 0.0004431237860165975 4.185585 14 0.00464499 1416 0.04539724850847458 3.998297 4 5 0.001064679