# 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 protein monoubiquitination 117 8.111037e-11 9.122490246410255e-9 2.055987 99 0.01216366 1046 0.04660525294455067 1.478716 33 60 0.004725086 GO Biological Process BMP signaling pathway involved in heart development 267 3.482296e-7 0.000017162371934082395 2.682573 35 0.004300283 971 0.03583321733676622 2.688574 6 6 0.0008591065 GO Biological Process TOR signaling 305 8.255547e-7 0.00003561794851573771 2.245277 46 0.0056518 898 0.025348556834075726 1.82823 17 25 0.002434135 GO Biological Process negative regulation of monooxygenase activity 922 0.0005198731 0.007419750675596529 2.300751 21 0.00258017 692 0.006990408790895954 2.444158 10 11 0.001431844 GO Biological Process norepinephrine biosynthetic process 968 0.0006097759 0.008289298624070249 2.222337 22 0.002703035 971 0.03583321733676622 2.688574 6 6 0.0008591065 GO Biological Process multicellular organismal iron ion homeostasis 1015 0.00077171 0.01000485900492611 2.76902 14 0.001720113 935 0.03098937463101604 2.389843 8 9 0.001145475 Human Phenotype Fair hair 382 0.0004019892 0.007022183067015707 2.003333 30 0.003685957 199 0.030305771533165833 2.419716 9 10 0.00128866 Mouse Phenotype Single KO iris synechia 66 5.22664e-8 0.000007251567042424242 2.199307 59 0.007249048 446 0.002377539083856502 2.150859 16 20 0.002290951 Mouse Phenotype Single KO anterior iris synechia 77 2.411275e-7 0.000028675383344155846 2.258436 50 0.006143261 834 0.02621218699040767 2.01643 12 16 0.001718213 Mouse Phenotype Single KO abnormal roof plate morphology 425 0.0002803413 0.006040200668470589 2.35856 22 0.002703035 998 0.04868369514428858 2.352502 7 8 0.001002291 Mouse Phenotype Single KO abnormal retinal nerve fiber layer morphology 449 0.0003365216 0.006863091962583518 2.08414 28 0.003440226 801 0.022501012528089885 2.112451 11 14 0.001575029 Mouse Phenotype Single KO absent palatine bone horizontal plate 460 0.0003873253 0.007710299504565217 2.13124 26 0.003194496 645 0.01283071315643411 2.419716 9 10 0.00128866 Mouse Phenotype Single KO calcified joint 689 0.001964794 0.026112654075471697 2.204826 18 0.002211574 852 0.028418147631455403 2.688574 6 6 0.0008591065 Mouse Phenotype ectopic cortical neuron 138 4.966272e-8 0.000003440762796521739 3.719558 25 0.00307163 1152 0.018274789166666666 2.389843 8 9 0.001145475 Mouse Phenotype large lymphoid organs 178 2.413563e-7 0.00001296408755224719 2.145507 56 0.006880452 1549 0.049101851817947066 1.568335 21 36 0.003006873 Mouse Phenotype increased CD4-negative NK T cell number 231 0.000001497972 0.00006200047745454545 2.797699 29 0.003563091 1485 0.045790597094949495 2.688574 5 5 0.0007159221 Mouse Phenotype abnormal meninges morphology 233 0.000001586069 0.00006508328630472103 2.060351 53 0.006511856 1247 0.024717707509222135 1.792383 16 24 0.002290951 Mouse Phenotype abnormal fornicate gyrus morphology 250 0.000003056318 0.000116885825592 2.114595 47 0.005774665 1359 0.03444197935320088 1.971621 11 15 0.001575029 Mouse Phenotype abnormal brain meninges morphology 256 0.000003309786 0.0001236127497890625 2.293518 39 0.004791743 1131 0.016638802877984082 2.112451 11 14 0.001575029 Mouse Phenotype abnormal cingulate gyrus morphology 319 0.00001288901 0.0003863066602194357 2.367894 32 0.003931687 1388 0.03654893389193084 2.352502 7 8 0.001002291 Mouse Phenotype abnormal malleus processus brevis morphology 334 0.00001647512 0.0004716126416766467 2.414845 30 0.003685957 1388 0.03654893389193084 2.352502 7 8 0.001002291 Mouse Phenotype abnormal malleus manubrium morphology 382 0.00003263607 0.0008168415321204189 2.112027 37 0.004546013 1152 0.018274789166666666 2.389843 8 9 0.001145475 Mouse Phenotype abnormal joint capsule morphology 446 0.0000756849 0.0016224738316143498 2.743223 20 0.002457304 1485 0.045790597094949495 2.688574 5 5 0.0007159221 Mouse Phenotype abnormal Reichert's cartilage morphology 454 0.00008159449 0.0017183368257488987 2.518628 23 0.0028259 1485 0.045790597094949495 2.688574 5 5 0.0007159221 Mouse Phenotype polyphalangy 481 0.0001072084 0.002131017697297297 2.1711 30 0.003685957 1267 0.025026789082872928 2.199742 9 11 0.00128866 Mouse Phenotype midface hypoplasia 571 0.0002119641 0.0035491922243432576 2.084229 30 0.003685957 1152 0.018274789166666666 2.389843 8 9 0.001145475 Mouse Phenotype absent palatine bone horizontal plate 612 0.0002933365 0.004582663850490196 2.043091 30 0.003685957 1057 0.013239379921475874 2.240478 10 12 0.001431844 Mouse Phenotype absent pubis 646 0.000363986 0.0053871054891640865 2.043664 29 0.003563091 1485 0.045790597094949495 2.688574 5 5 0.0007159221 Mouse Phenotype calcified joint 945 0.001964794 0.019878725326984127 2.204826 18 0.002211574 1199 0.02108464444203503 2.688574 6 6 0.0008591065 Mouse Phenotype abnormal heart apex morphology 1247 0.005976022 0.045819363546110665 2.19854 14 0.001720113 988 0.009512004713562752 2.688574 7 7 0.001002291