

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | protein retention in ER lumen (GO:0006621) | 4.58915357 |
| 2 | apoptotic cell clearance (GO:0043277) | 4.53098609 |
| 3 | maintenance of protein localization in endoplasmic reticulum (GO:0035437) | 4.35841851 |
| 4 | cell adhesion mediated by integrin (GO:0033627) | 4.30640912 |
| 5 | low-density lipoprotein particle clearance (GO:0034383) | 4.16022421 |
| 6 | melanin biosynthetic process (GO:0042438) | 4.12175858 |
| 7 | basement membrane organization (GO:0071711) | 3.90684127 |
| 8 | regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547) | 3.88423759 |
| 9 | regulation of vascular endothelial growth factor signaling pathway (GO:1900746) | 3.85006021 |
| 10 | negative regulation of fatty acid transport (GO:2000192) | 3.83121400 |
| 11 | endodermal cell differentiation (GO:0035987) | 3.82198959 |
| 12 | plasma membrane repair (GO:0001778) | 3.77087824 |
| 13 | protein heterotrimerization (GO:0070208) | 3.69285990 |
| 14 | regulation of early endosome to late endosome transport (GO:2000641) | 3.68468667 |
| 15 | positive regulation by symbiont of host defense response (GO:0052509) | 3.64657465 |
| 16 | modulation by symbiont of host defense response (GO:0052031) | 3.64657465 |
| 17 | modulation by organism of immune response of other organism involved in symbiotic interaction (GO:00 | 3.64657465 |
| 18 | modulation by organism of defense response of other organism involved in symbiotic interaction (GO:0 | 3.64657465 |
| 19 | positive regulation by organism of defense response of other organism involved in symbiotic interact | 3.64657465 |
| 20 | modulation by symbiont of host immune response (GO:0052553) | 3.64657465 |
| 21 | negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471) | 3.60370109 |
| 22 | skin morphogenesis (GO:0043589) | 3.59439072 |
| 23 | protein localization to endosome (GO:0036010) | 3.58827471 |
| 24 | planar cell polarity pathway involved in neural tube closure (GO:0090179) | 3.53600251 |
| 25 | protein maturation by protein folding (GO:0022417) | 3.49611572 |
| 26 | semaphorin-plexin signaling pathway (GO:0071526) | 3.43618491 |
| 27 | melanin metabolic process (GO:0006582) | 3.42722636 |
| 28 | neuron projection extension involved in neuron projection guidance (GO:1902284) | 3.40830882 |
| 29 | axon extension involved in axon guidance (GO:0048846) | 3.40830882 |
| 30 | retrograde vesicle-mediated transport, Golgi to ER (GO:0006890) | 3.39188327 |
| 31 | regulation of cholesterol storage (GO:0010885) | 3.37971975 |
| 32 | retina vasculature morphogenesis in camera-type eye (GO:0061299) | 3.33072295 |
| 33 | paraxial mesoderm development (GO:0048339) | 3.32518409 |
| 34 | positive regulation of p38MAPK cascade (GO:1900745) | 3.31907970 |
| 35 | wound healing, spreading of epidermal cells (GO:0035313) | 3.31793900 |
| 36 | stress fiber assembly (GO:0043149) | 3.29604933 |
| 37 | regulation of integrin activation (GO:0033623) | 3.26276910 |
| 38 | positive regulation of membrane protein ectodomain proteolysis (GO:0051044) | 3.24318158 |
| 39 | collagen fibril organization (GO:0030199) | 3.24110242 |
| 40 | regulation of establishment of planar polarity involved in neural tube closure (GO:0090178) | 3.22584457 |
| 41 | response to laminar fluid shear stress (GO:0034616) | 3.15044808 |
| 42 | chondrocyte proliferation (GO:0035988) | 3.14891312 |
| 43 | glucose 6-phosphate metabolic process (GO:0051156) | 3.14130198 |
| 44 | adhesion of symbiont to host (GO:0044406) | 3.12879048 |
| 45 | collagen metabolic process (GO:0032963) | 3.12144851 |
| 46 | collagen catabolic process (GO:0030574) | 3.11918989 |
| 47 | cell-substrate junction assembly (GO:0007044) | 3.10425064 |
| 48 | mannose metabolic process (GO:0006013) | 3.10161283 |
| 49 | secondary metabolite biosynthetic process (GO:0044550) | 3.09571972 |
| 50 | negative regulation of cell size (GO:0045792) | 3.09173123 |
| 51 | cytoskeletal anchoring at plasma membrane (GO:0007016) | 3.07996782 |
| 52 | epithelial cell-cell adhesion (GO:0090136) | 3.06995118 |
| 53 | protein hydroxylation (GO:0018126) | 3.05098824 |
| 54 | activation of signaling protein activity involved in unfolded protein response (GO:0006987) | 3.04496496 |
| 55 | barbed-end actin filament capping (GO:0051016) | 3.03222852 |
| 56 | positive regulation of endothelial cell apoptotic process (GO:2000353) | 2.99649856 |
| 57 | axon extension (GO:0048675) | 2.98947866 |
| 58 | keratan sulfate catabolic process (GO:0042340) | 2.98180525 |
| 59 | multicellular organismal macromolecule metabolic process (GO:0044259) | 2.97710082 |
| 60 | L-alpha-amino acid transmembrane transport (GO:1902475) | 2.95814224 |
| 61 | extracellular matrix disassembly (GO:0022617) | 2.94303604 |
| 62 | adhesion of symbiont to host cell (GO:0044650) | 2.94200414 |
| 63 | virion attachment to host cell (GO:0019062) | 2.94200414 |
| 64 | regulation of interferon-beta biosynthetic process (GO:0045357) | 2.93464486 |
| 65 | multicellular organismal catabolic process (GO:0044243) | 2.92310418 |
| 66 | cortical actin cytoskeleton organization (GO:0030866) | 2.91334458 |
| 67 | positive regulation of nuclease activity (GO:0032075) | 2.90663031 |
| 68 | endothelial cell morphogenesis (GO:0001886) | 2.90519007 |
| 69 | regulation of membrane protein ectodomain proteolysis (GO:0051043) | 2.88563351 |
| 70 | receptor catabolic process (GO:0032801) | 2.88470107 |
| 71 | epithelial cell differentiation involved in prostate gland development (GO:0060742) | 2.88178136 |
| 72 | response to fluid shear stress (GO:0034405) | 2.86925759 |
| 73 | type B pancreatic cell proliferation (GO:0044342) | 2.86213738 |
| 74 | negative regulation of chondrocyte differentiation (GO:0032331) | 2.85673263 |
| 75 | hyaluronan catabolic process (GO:0030214) | 2.84886425 |
| 76 | vascular endothelial growth factor signaling pathway (GO:0038084) | 2.84285537 |
| 77 | Golgi transport vesicle coating (GO:0048200) | 2.83489825 |
| 78 | COPI coating of Golgi vesicle (GO:0048205) | 2.83489825 |
| 79 | multicellular organismal metabolic process (GO:0044236) | 2.80131683 |
| 80 | adherens junction assembly (GO:0034333) | 2.79463993 |
| 81 | regulation of SMAD protein import into nucleus (GO:0060390) | 2.79139085 |
| 82 | ganglion development (GO:0061548) | 2.77197829 |
| 83 | apoptotic process involved in morphogenesis (GO:0060561) | 2.76537448 |
| 84 | positive regulation of histone deacetylation (GO:0031065) | 2.75932994 |
| 85 | positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr | 2.75163150 |
| 86 | positive regulation of axon extension (GO:0045773) | 2.74308293 |
| 87 | cellular response to interferon-alpha (GO:0035457) | 2.74051454 |
| 88 | hemidesmosome assembly (GO:0031581) | 2.73121378 |
| 89 | vascular endothelial growth factor receptor signaling pathway (GO:0048010) | 2.71620327 |
| 90 | glial cell migration (GO:0008347) | 2.71560379 |
| 91 | endoplasmic reticulum unfolded protein response (GO:0030968) | 2.70253864 |
| 92 | heterochromatin organization (GO:0070828) | 2.68694996 |
| 93 | cell-cell junction maintenance (GO:0045217) | 2.67162980 |
| 94 | regulation of hippo signaling (GO:0035330) | 2.66210957 |
| 95 | L-serine transport (GO:0015825) | 2.64881708 |
| 96 | endothelial cell chemotaxis (GO:0035767) | 2.64394303 |
| 97 | Wnt signaling pathway, planar cell polarity pathway (GO:0060071) | 2.64201287 |
| 98 | macrophage activation involved in immune response (GO:0002281) | 2.64153348 |
| 99 | platelet aggregation (GO:0070527) | 2.63307162 |
| 100 | vesicle coating (GO:0006901) | 2.62646596 |
| 101 | convergent extension (GO:0060026) | 2.62055334 |
| 102 | regulation of macrophage cytokine production (GO:0010935) | 2.61996481 |
| 103 | glycosphingolipid catabolic process (GO:0046479) | 2.61633452 |
| 104 | regulation of nuclease activity (GO:0032069) | 2.61483153 |
| 105 | positive regulation of SMAD protein import into nucleus (GO:0060391) | 2.60846369 |
| 106 | cell migration involved in sprouting angiogenesis (GO:0002042) | 2.59990963 |
| 107 | polarized epithelial cell differentiation (GO:0030859) | 2.59243040 |
| 108 | substrate adhesion-dependent cell spreading (GO:0034446) | 2.58979215 |
| 109 | maternal placenta development (GO:0001893) | 2.57057569 |
| 110 | neuron projection extension (GO:1990138) | 2.56742199 |
| 111 | cellular response to unfolded protein (GO:0034620) | 2.56604310 |
| 112 | regulation of tight junction assembly (GO:2000810) | 2.55042140 |
| 113 | extracellular fibril organization (GO:0043206) | 2.54650980 |
| 114 | negative regulation of smooth muscle cell migration (GO:0014912) | 2.54128497 |
| 115 | negative regulation of adherens junction organization (GO:1903392) | 2.50790948 |
| 116 | negative regulation of focal adhesion assembly (GO:0051895) | 2.50790948 |
| 117 | negative regulation of cell junction assembly (GO:1901889) | 2.50790948 |
| 118 | dichotomous subdivision of an epithelial terminal unit (GO:0060600) | 2.49980512 |
| 119 | cellular response to vitamin (GO:0071295) | 2.49472531 |
| 120 | regulation of establishment of planar polarity (GO:0090175) | 2.49209020 |
| 121 | pinocytosis (GO:0006907) | 2.47098980 |
| 122 | pentose-phosphate shunt (GO:0006098) | 2.46820572 |
| 123 | peptidyl-proline hydroxylation (GO:0019511) | 2.46605497 |
| 124 | germ cell migration (GO:0008354) | 2.46349530 |
| 125 | wound healing, spreading of cells (GO:0044319) | 2.45950610 |
| 126 | serine transport (GO:0032329) | 2.45669212 |
| 127 | ER-nucleus signaling pathway (GO:0006984) | 2.44929282 |
| 128 | cellular copper ion homeostasis (GO:0006878) | 2.44736092 |
| 129 | regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition | 2.43849533 |
| 130 | regulation of p38MAPK cascade (GO:1900744) | 2.43641546 |
| 131 | positive regulation of syncytium formation by plasma membrane fusion (GO:0060143) | 2.43526752 |
| 132 | mating behavior (GO:0007617) | 2.43521231 |
| 133 | 4-hydroxyproline metabolic process (GO:0019471) | 2.42789060 |
| 134 | oligosaccharide catabolic process (GO:0009313) | 2.42676779 |
| 135 | heparan sulfate proteoglycan biosynthetic process (GO:0015012) | 2.42300216 |
| 136 | regulation of mammary gland epithelial cell proliferation (GO:0033599) | 2.41122332 |
| 137 | substrate-dependent cell migration (GO:0006929) | 2.40743916 |
| 138 | blood vessel endothelial cell migration (GO:0043534) | 2.40506143 |
| 139 | positive regulation of bone resorption (GO:0045780) | 2.40279297 |
| 140 | positive regulation of bone remodeling (GO:0046852) | 2.40279297 |
| 141 | positive regulation of receptor recycling (GO:0001921) | 2.40011366 |
| 142 | cochlea morphogenesis (GO:0090103) | 2.39007151 |
| 143 | cellular response to vascular endothelial growth factor stimulus (GO:0035924) | 2.38537691 |
| 144 | regulation of mononuclear cell migration (GO:0071675) | 2.38184631 |
| 145 | regulation of extracellular matrix disassembly (GO:0010715) | 2.37568759 |
| 146 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 2.37456955 |
| 147 | fibroblast migration (GO:0010761) | 2.36853164 |
| 148 | cortical cytoskeleton organization (GO:0030865) | 2.36851534 |
| 149 | cell migration involved in heart development (GO:0060973) | 2.35149312 |
| 150 | embryo implantation (GO:0007566) | 2.32168971 |
| 151 | glycolipid catabolic process (GO:0019377) | 2.31714306 |
| 152 | positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241) | 2.31180215 |
| 153 | NADPH regeneration (GO:0006740) | 2.31060493 |
| 154 | craniofacial suture morphogenesis (GO:0097094) | 2.29775897 |
| 155 | negative regulation of microtubule polymerization (GO:0031115) | 2.28846431 |
| 156 | endocytic recycling (GO:0032456) | 2.28330837 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 4.45705056 |
| 2 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 3.74054252 |
| 3 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 3.40188383 |
| 4 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 3.15358725 |
| 5 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 2.82196589 |
| 6 | * ELK3_25401928_ChIP-Seq_HUVEC_Human | 2.49763602 |
| 7 | CLOCK_20551151_ChIP-Seq_293T_Human | 2.41030653 |
| 8 | * RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 2.27587412 |
| 9 | TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 2.24934844 |
| 10 | KDM2B_26808549_Chip-Seq_SUP-B15_Human | 2.18425294 |
| 11 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.97431994 |
| 12 | KDM2B_26808549_Chip-Seq_DND41_Human | 1.96801004 |
| 13 | * P300_27058665_Chip-Seq_ZR-75-30cells_Human | 1.94808426 |
| 14 | * NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human | 1.92374173 |
| 15 | RACK7_27058665_Chip-Seq_MCF-7_Human | 1.90344611 |
| 16 | KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.85268355 |
| 17 | * KDM2B_26808549_Chip-Seq_SIL-ALL_Human | 1.84957831 |
| 18 | VDR_21846776_ChIP-Seq_THP-1_Human | 1.84452277 |
| 19 | ATF3_27146783_Chip-Seq_COLON_Human | 1.83727185 |
| 20 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 1.82025980 |
| 21 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.80911281 |
| 22 | NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse | 1.79389074 |
| 23 | MYC_22102868_ChIP-Seq_BL_Human | 1.75892902 |
| 24 | * CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 1.74568174 |
| 25 | Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse | 1.72877122 |
| 26 | TCF7_22412390_ChIP-Seq_EML_Mouse | 1.72743731 |
| 27 | IRF8_21731497_ChIP-ChIP_J774_Mouse | 1.71504147 |
| 28 | CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 1.70381785 |
| 29 | * ZFP281_18757296_ChIP-ChIP_E14_Mouse | 1.66355569 |
| 30 | SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 1.66062926 |
| 31 | * SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse | 1.65645490 |
| 32 | * BRD4_27068464_Chip-Seq_AML-cells_Mouse | 1.63576131 |
| 33 | MYB_21317192_ChIP-Seq_ERMYB_Mouse | 1.63560885 |
| 34 | WT1_19549856_ChIP-ChIP_CCG9911_Human | 1.62599426 |
| 35 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.61169064 |
| 36 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 1.60604118 |
| 37 | ZNF263_19887448_ChIP-Seq_K562_Human | 1.59459692 |
| 38 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.58112615 |
| 39 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.57887453 |
| 40 | RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human | 1.57690378 |
| 41 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 1.57251578 |
| 42 | * ERG_21242973_ChIP-ChIP_JURKAT_Human | 1.55370381 |
| 43 | KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.52985190 |
| 44 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 1.52566216 |
| 45 | STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse | 1.52201454 |
| 46 | KDM2B_26808549_Chip-Seq_K562_Human | 1.51130859 |
| 47 | KDM2B_26808549_Chip-Seq_HPB-ALL_Human | 1.51053984 |
| 48 | DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 1.50708435 |
| 49 | IRF8_27001747_Chip-Seq_BMDM_Mouse | 1.49332855 |
| 50 | WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 1.48887442 |
| 51 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 1.48296141 |
| 52 | TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 1.45262703 |
| 53 | TFEB_21752829_ChIP-Seq_HELA_Human | 1.44960621 |
| 54 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.41173020 |
| 55 | TP53_22127205_ChIP-Seq_IMR90_Human | 1.40880608 |
| 56 | ESR1_15608294_ChIP-ChIP_MCF-7_Human | 1.39755045 |
| 57 | UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 1.38748764 |
| 58 | * ZFP281_18358816_ChIP-ChIP_MESCs_Mouse | 1.37640834 |
| 59 | FOXO3_23340844_ChIP-Seq_DLD1_Human | 1.36221721 |
| 60 | ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.36199968 |
| 61 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 1.34925171 |
| 62 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 1.33353695 |
| 63 | EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse | 1.32118374 |
| 64 | SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 1.31977188 |
| 65 | SRY_22984422_ChIP-ChIP_TESTIS_Rat | 1.31962675 |
| 66 | * TET1_21490601_ChIP-Seq_MESCs_Mouse | 1.31736952 |
| 67 | FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human | 1.31280591 |
| 68 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.31039639 |
| 69 | * NR0B1_18358816_ChIP-ChIP_MESCs_Mouse | 1.30182463 |
| 70 | * KDM2B_26808549_Chip-Seq_JURKAT_Human | 1.30003425 |
| 71 | SMAD3_22036565_ChIP-Seq_ESCs_Mouse | 1.29916759 |
| 72 | EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.29864772 |
| 73 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 1.27716042 |
| 74 | SPI1_23127762_ChIP-Seq_K562_Human | 1.27571288 |
| 75 | ZIC3_20872845_ChIP-ChIP_MESCs_Mouse | 1.27519964 |
| 76 | * ATF3_23680149_ChIP-Seq_GBM1-GSC_Human | 1.27453014 |
| 77 | * KLF4_18358816_ChIP-ChIP_MESCs_Mouse | 1.27210971 |
| 78 | VDR_24763502_ChIP-Seq_THP-1_Human | 1.27050089 |
| 79 | KLF4_18555785_ChIP-Seq_MESCs_Mouse | 1.26868566 |
| 80 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.26600365 |
| 81 | PPAR_26484153_Chip-Seq_NCI-H1993_Human | 1.26402758 |
| 82 | SMAD3_18955504_ChIP-ChIP_HaCaT_Human | 1.26275085 |
| 83 | SMAD2_18955504_ChIP-ChIP_HaCaT_Human | 1.26275085 |
| 84 | ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 1.26082563 |
| 85 | NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 1.25986500 |
| 86 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 1.25317577 |
| 87 | GATA2_21666600_ChIP-Seq_HMVEC_Human | 1.24822656 |
| 88 | OLIG2_26023283_ChIP-Seq_AINV15_Mouse | 1.22917058 |
| 89 | * ZFP281_27345836_Chip-Seq_ESCs_Mouse | 1.22847890 |
| 90 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 1.21623008 |
| 91 | TP53_20018659_ChIP-ChIP_R1E_Mouse | 1.20452959 |
| 92 | UBF1/2_26484160_Chip-Seq_HMECs_Human | 1.19564408 |
| 93 | MAF_26560356_Chip-Seq_TH1_Human | 1.18466516 |
| 94 | SREBP1_19666523_ChIP-Seq_LIVER_Mouse | 1.17290704 |
| 95 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 1.17268942 |
| 96 | * NCOR1_26117541_ChIP-Seq_K562_Human | 1.17001410 |
| 97 | * MECOM_23826213_ChIP-Seq_KASUMI_Mouse | 1.16875127 |
| 98 | CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat | 1.15993851 |
| 99 | JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.15931994 |
| 100 | * SALL4_18804426_ChIP-ChIP_MESCs_Mouse | 1.14842651 |
| 101 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 1.14784983 |
| 102 | DNAJC2_21179169_ChIP-ChIP_NT2_Human | 1.14556150 |
| 103 | * EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human | 1.12376867 |
| 104 | NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human | 1.11106754 |
| 105 | TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 1.11021654 |
| 106 | GATA1_19941826_ChIP-Seq_K562_Human | 1.10352227 |
| 107 | ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.10189590 |
| 108 | SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 1.09714747 |
| 109 | OCT4_18692474_ChIP-Seq_MEFs_Mouse | 1.08774451 |
| 110 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 1.08718218 |
| 111 | * SETDB1_19884255_ChIP-Seq_MESCs_Mouse | 1.08698739 |
| 112 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 1.07778406 |
| 113 | E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human | 1.06397552 |
| 114 | * UTX_26944678_Chip-Seq_JUKART_Human | 1.06310597 |
| 115 | CREB1_26743006_Chip-Seq_LNCaP_Human | 1.06093648 |
| 116 | BRD4_25478319_ChIP-Seq_HGPS_Human | 1.05903195 |
| 117 | DMRT1_23473982_ChIP-Seq_TESTES_Mouse | 1.05666376 |
| 118 | RUNX1_22412390_ChIP-Seq_EML_Mouse | 1.05565867 |
| 119 | PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 1.04756088 |
| 120 | * TP53_23651856_ChIP-Seq_MEFs_Mouse | 1.04249118 |
| 121 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.03101302 |
| 122 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 1.02988275 |
| 123 | CJUN_26792858_Chip-Seq_BT549_Human | 1.02596936 |
| 124 | NKX2-5_21415370_ChIP-Seq_HL-1_Mouse | 1.02596202 |
| 125 | P63_26484246_Chip-Seq_KERATINOCYTES_Human | 1.02232650 |
| 126 | CTCF_18555785_ChIP-Seq_MESCs_Mouse | 1.02074629 |
| 127 | SOX9_24532713_ChIP-Seq_HFSC_Mouse | 1.00401131 |
| 128 | * CTCF_27219007_Chip-Seq_ERYTHROID_Human | 0.99814752 |
| 129 | NANOG_21062744_ChIP-ChIP_HESCs_Human | 0.99635376 |
| 130 | CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse | 0.99252866 |
| 131 | * SOX2_18358816_ChIP-ChIP_MESCs_Mouse | 0.99110378 |
| 132 | SMC1_22415368_ChIP-Seq_MEFs_Mouse | 0.98594923 |
| 133 | CREB1_26743006_Chip-Seq_LNCaP-abl_Human | 0.98441036 |
| 134 | * TCF3_18467660_ChIP-ChIP_MESCs_Mouse | 0.97728782 |
| 135 | SOX2_18692474_ChIP-Seq_MEFs_Mouse | 0.96708065 |
| 136 | RNF2_18974828_ChIP-Seq_MESCs_Mouse | 0.96646272 |
| 137 | EZH2_18974828_ChIP-Seq_MESCs_Mouse | 0.96646272 |
| 138 | SMC3_22415368_ChIP-Seq_MEFs_Mouse | 0.95913512 |
| 139 | TBX20_22328084_ChIP-Seq_HEART_Mouse | 0.95885646 |
| 140 | TBX20_22080862_ChIP-Seq_HEART_Mouse | 0.95885646 |
| 141 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 0.92806840 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0008438_abnormal_cutaneous_collagen | 5.69950214 |
| 2 | MP0003705_abnormal_hypodermis_morpholog | 4.89991850 |
| 3 | MP0005058_abnormal_lysosome_morphology | 3.52913036 |
| 4 | MP0005171_absent_coat_pigmentation | 3.36884814 |
| 5 | MP0005257_abnormal_intraocular_pressure | 3.29420639 |
| 6 | MP0005275_abnormal_skin_tensile | 3.25306330 |
| 7 | MP0003566_abnormal_cell_adhesion | 3.12634923 |
| 8 | MP0003172_abnormal_lysosome_physiology | 2.66906467 |
| 9 | MP0001958_emphysema | 2.66829066 |
| 10 | MP0003303_peritoneal_inflammation | 2.64918709 |
| 11 | MP0010352_gastrointestinal_tract_polyps | 2.38782835 |
| 12 | MP0005623_abnormal_meninges_morphology | 2.37640836 |
| 13 | MP0003300_gastrointestinal_ulcer | 2.31245671 |
| 14 | MP0003279_aneurysm | 2.29210269 |
| 15 | MP0002877_abnormal_melanocyte_morpholog | 2.26806717 |
| 16 | MP0004272_abnormal_basement_membrane | 2.16781206 |
| 17 | MP0005076_abnormal_cell_differentiation | 2.12776567 |
| 18 | MP0003091_abnormal_cell_migration | 2.10888762 |
| 19 | MP0004858_abnormal_nervous_system | 2.07221734 |
| 20 | MP0005409_darkened_coat_color | 2.01389670 |
| 21 | MP0009840_abnormal_foam_cell | 1.99586108 |
| 22 | MP0005023_abnormal_wound_healing | 1.95553100 |
| 23 | MP0003329_amyloid_beta_deposits | 1.92519373 |
| 24 | MP0005503_abnormal_tendon_morphology | 1.90324884 |
| 25 | MP0000733_abnormal_muscle_development | 1.79631195 |
| 26 | MP0006054_spinal_hemorrhage | 1.78530417 |
| 27 | MP0003136_yellow_coat_color | 1.77307110 |
| 28 | MP0010307_abnormal_tumor_latency | 1.76437606 |
| 29 | MP0005408_hypopigmentation | 1.66260377 |
| 30 | MP0000569_abnormal_digit_pigmentation | 1.62061441 |
| 31 | MP0001849_ear_inflammation | 1.61993062 |
| 32 | MP0009278_abnormal_bone_marrow | 1.60985617 |
| 33 | MP0003448_altered_tumor_morphology | 1.49807469 |
| 34 | MP0003283_abnormal_digestive_organ | 1.37437930 |
| 35 | MP0000372_irregular_coat_pigmentation | 1.36121859 |
| 36 | MP0002060_abnormal_skin_morphology | 1.33867695 |
| 37 | MP0003045_fibrosis | 1.33083149 |
| 38 | MP0006082_CNS_inflammation | 1.32850367 |
| 39 | MP0003191_abnormal_cellular_cholesterol | 1.32370063 |
| 40 | MP0000015_abnormal_ear_pigmentation | 1.30503923 |
| 41 | MP0010234_abnormal_vibrissa_follicle | 1.28941372 |
| 42 | MP0000858_altered_metastatic_potential | 1.25754992 |
| 43 | MP0003950_abnormal_plasma_membrane | 1.22873641 |
| 44 | MP0003436_decreased_susceptibility_to | 1.22407309 |
| 45 | MP0004185_abnormal_adipocyte_glucose | 1.20119964 |
| 46 | MP0008260_abnormal_autophagy | 1.19861581 |
| 47 | MP0004947_skin_inflammation | 1.19108941 |
| 48 | MP0003634_abnormal_glial_cell | 1.19007668 |
| 49 | MP0002998_abnormal_bone_remodeling | 1.18912617 |
| 50 | MP0001533_abnormal_skeleton_physiology | 1.18713344 |
| 51 | MP0000604_amyloidosis | 1.16387484 |
| 52 | MP0003122_maternal_imprinting | 1.16180669 |
| 53 | MP0005508_abnormal_skeleton_morphology | 1.16132622 |
| 54 | MP0004510_myositis | 1.15252273 |
| 55 | MP0001348_abnormal_lacrimal_gland | 1.15231396 |
| 56 | MP0001542_abnormal_bone_strength | 1.13851606 |
| 57 | MP0003942_abnormal_urinary_system | 1.13517492 |
| 58 | MP0000767_abnormal_smooth_muscle | 1.12970169 |
| 59 | MP0002896_abnormal_bone_mineralization | 1.11286639 |
| 60 | MP0000750_abnormal_muscle_regeneration | 1.10730222 |
| 61 | MP0001879_abnormal_lymphatic_vessel | 1.09635839 |
| 62 | MP0002075_abnormal_coat/hair_pigmentati | 1.05767050 |
| 63 | MP0003453_abnormal_keratinocyte_physiol | 1.04743351 |
| 64 | MP0000537_abnormal_urethra_morphology | 1.03861802 |
| 65 | MP0005451_abnormal_body_composition | 1.01607245 |
| 66 | MP0001915_intracranial_hemorrhage | 1.01184194 |
| 67 | MP0005197_abnormal_uvea_morphology | 0.99772720 |
| 68 | MP0001186_pigmentation_phenotype | 0.98468743 |
| 69 | MP0002089_abnormal_postnatal_growth/wei | 0.97710540 |
| 70 | MP0005390_skeleton_phenotype | 0.97220995 |
| 71 | MP0005595_abnormal_vascular_smooth | 0.95334147 |
| 72 | MP0003123_paternal_imprinting | 0.93260262 |
| 73 | MP0005464_abnormal_platelet_physiology | 0.90925367 |
| 74 | MP0000343_altered_response_to | 0.90843027 |
| 75 | MP0001243_abnormal_dermal_layer | 0.90252860 |
| 76 | MP0003941_abnormal_skin_development | 0.88935650 |
| 77 | MP0000003_abnormal_adipose_tissue | 0.88111408 |
| 78 | MP0002295_abnormal_pulmonary_circulatio | 0.87365936 |
| 79 | MP0002168_other_aberrant_phenotype | 0.85381446 |
| 80 | MP0000371_diluted_coat_color | 0.85096633 |
| 81 | MP0000428_abnormal_craniofacial_morphol | 0.84588684 |
| 82 | MP0000778_abnormal_nervous_system | 0.84480367 |
| 83 | MP0002697_abnormal_eye_size | 0.83082070 |
| 84 | MP0008961_abnormal_basal_metabolism | 0.82519591 |
| 85 | MP0002092_abnormal_eye_morphology | 0.82483051 |
| 86 | MP0010030_abnormal_orbit_morphology | 0.82172509 |
| 87 | MP0005164_abnormal_response_to | 0.81426951 |
| 88 | MP0001299_abnormal_eye_distance/ | 0.79992498 |
| 89 | MP0004130_abnormal_muscle_cell | 0.79828522 |
| 90 | MP0005167_abnormal_blood-brain_barrier | 0.79642626 |
| 91 | MP0000462_abnormal_digestive_system | 0.78201953 |
| 92 | MP0001614_abnormal_blood_vessel | 0.77938972 |
| 93 | MP0005375_adipose_tissue_phenotype | 0.77230972 |
| 94 | MP0002933_joint_inflammation | 0.76912444 |
| 95 | MP0005397_hematopoietic_system_phenotyp | 0.76740985 |
| 96 | MP0001545_abnormal_hematopoietic_system | 0.76740985 |
| 97 | MP0000534_abnormal_ureter_morphology | 0.76189574 |
| 98 | MP0003795_abnormal_bone_structure | 0.75782000 |
| 99 | MP0009384_cardiac_valve_regurgitation | 0.75176748 |
| 100 | MP0002938_white_spotting | 0.73859689 |
| 101 | MP0005083_abnormal_biliary_tract | 0.73630726 |
| 102 | MP0000013_abnormal_adipose_tissue | 0.73564829 |
| 103 | MP0003385_abnormal_body_wall | 0.72538036 |
| 104 | MP0000751_myopathy | 0.72492063 |
| 105 | MP0002419_abnormal_innate_immunity | 0.71439657 |
| 106 | MP0005193_abnormal_anterior_eye | 0.71009657 |
| 107 | MP0002925_abnormal_cardiovascular_devel | 0.70038637 |
| 108 | MP0004197_abnormal_fetal_growth/weight/ | 0.69856710 |
| 109 | MP0002090_abnormal_vision | 0.69075073 |
| 110 | MP0010368_abnormal_lymphatic_system | 0.67831287 |
| 111 | MP0000747_muscle_weakness | 0.67654435 |
| 112 | MP0009250_abnormal_appendicular_skeleto | 0.67120712 |
| 113 | MP0002128_abnormal_blood_circulation | 0.66718884 |
| 114 | MP0004087_abnormal_muscle_fiber | 0.66375410 |
| 115 | MP0003075_altered_response_to | 0.65688360 |
| 116 | MP0002254_reproductive_system_inflammat | 0.65436604 |
| 117 | MP0005621_abnormal_cell_physiology | 0.64959053 |
| 118 | MP0001324_abnormal_eye_pigmentation | 0.64198439 |
| 119 | MP0000432_abnormal_head_morphology | 0.62753862 |
| 120 | MP0008770_decreased_survivor_rate | 0.62670570 |
| 121 | MP0004233_abnormal_muscle_weight | 0.62219760 |
| 122 | MP0002113_abnormal_skeleton_development | 0.62142836 |
| 123 | MP0006138_congestive_heart_failure | 0.62007252 |
| 124 | MP0000249_abnormal_blood_vessel | 0.61997923 |
| 125 | MP0002177_abnormal_outer_ear | 0.61649634 |
| 126 | MP0004883_abnormal_blood_vessel | 0.61207655 |
| 127 | MP0002796_impaired_skin_barrier | 0.60576737 |
| 128 | MP0003115_abnormal_respiratory_system | 0.60373498 |
| 129 | MP0001175_abnormal_lung_morphology | 0.60250008 |
| 130 | MP0009053_abnormal_anal_canal | 0.60072778 |
| 131 | MP0000049_abnormal_middle_ear | 0.60031479 |
| 132 | MP0003690_abnormal_glial_cell | 0.59695866 |
| 133 | MP0003935_abnormal_craniofacial_develop | 0.59676782 |
| 134 | MP0002116_abnormal_craniofacial_bone | 0.58599721 |
| 135 | MP0000163_abnormal_cartilage_morphology | 0.58406086 |
| 136 | MP0000759_abnormal_skeletal_muscle | 0.57206828 |
| 137 | MP0000762_abnormal_tongue_morphology | 0.55214329 |
| 138 | MP0009672_abnormal_birth_weight | 0.54060112 |
| 139 | MP0004859_abnormal_synaptic_plasticity | 0.52402283 |
| 140 | MP0000467_abnormal_esophagus_morphology | 0.50028700 |
| 141 | MP0005248_abnormal_Harderian_gland | 0.49902846 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Premature rupture of membranes (HP:0001788) | 5.28076113 |
| 2 | Protrusio acetabuli (HP:0003179) | 5.21227938 |
| 3 | Cerebral aneurysm (HP:0004944) | 4.35707103 |
| 4 | Increased cerebral lipofuscin (HP:0011813) | 4.32868564 |
| 5 | Ankle contracture (HP:0006466) | 3.77874822 |
| 6 | Cervical subluxation (HP:0003308) | 3.65332086 |
| 7 | Shallow orbits (HP:0000586) | 3.53957136 |
| 8 | Dysostosis multiplex (HP:0000943) | 3.25895763 |
| 9 | Increased neuronal autofluorescent lipopigment (HP:0002074) | 3.19519696 |
| 10 | Peritonitis (HP:0002586) | 3.17761319 |
| 11 | Urinary glycosaminoglycan excretion (HP:0003541) | 3.12239295 |
| 12 | Mucopolysacchariduria (HP:0008155) | 3.12239295 |
| 13 | Distal upper limb amyotrophy (HP:0007149) | 3.10167201 |
| 14 | Upper limb amyotrophy (HP:0009129) | 3.10167201 |
| 15 | Neurofibrillary tangles (HP:0002185) | 2.99503952 |
| 16 | Aortic dissection (HP:0002647) | 2.97197832 |
| 17 | Vertebral compression fractures (HP:0002953) | 2.92797695 |
| 18 | Abnormality of polysaccharide metabolism (HP:0011012) | 2.92274574 |
| 19 | Abnormality of glycosaminoglycan metabolism (HP:0004371) | 2.92274574 |
| 20 | Abnormality of mucopolysaccharide metabolism (HP:0011020) | 2.92274574 |
| 21 | Atrophic scars (HP:0001075) | 2.90387534 |
| 22 | Hand muscle atrophy (HP:0009130) | 2.86917278 |
| 23 | Bladder diverticulum (HP:0000015) | 2.81313937 |
| 24 | Dilatation of the ascending aorta (HP:0005111) | 2.79339578 |
| 25 | Increased connective tissue (HP:0009025) | 2.78019997 |
| 26 | Genu recurvatum (HP:0002816) | 2.74702620 |
| 27 | Fragile skin (HP:0001030) | 2.70115240 |
| 28 | Aortic aneurysm (HP:0004942) | 2.69490166 |
| 29 | Mitral valve prolapse (HP:0001634) | 2.66642927 |
| 30 | Nuclear cataract (HP:0100018) | 2.64403904 |
| 31 | Vacuolated lymphocytes (HP:0001922) | 2.54913539 |
| 32 | Abnormality of liposaccharide metabolism (HP:0010968) | 2.49951222 |
| 33 | Abnormality of glycosphingolipid metabolism (HP:0004343) | 2.49951222 |
| 34 | Abnormality of glycolipid metabolism (HP:0010969) | 2.49951222 |
| 35 | Broad metatarsal (HP:0001783) | 2.48926038 |
| 36 | Insomnia (HP:0100785) | 2.43220373 |
| 37 | Ulnar bowing (HP:0003031) | 2.41099196 |
| 38 | Osteolytic defects of the phalanges of the hand (HP:0009771) | 2.38300672 |
| 39 | Osteolytic defects of the hand bones (HP:0009699) | 2.38300672 |
| 40 | Wrist flexion contracture (HP:0001239) | 2.37401057 |
| 41 | Aneurysm (HP:0002617) | 2.35689651 |
| 42 | Soft skin (HP:0000977) | 2.33212848 |
| 43 | Spinal rigidity (HP:0003306) | 2.32043074 |
| 44 | Cortical dysplasia (HP:0002539) | 2.31603444 |
| 45 | Blue sclerae (HP:0000592) | 2.29930042 |
| 46 | Increased density of long bones (HP:0006392) | 2.29190009 |
| 47 | Axonal loss (HP:0003447) | 2.28365055 |
| 48 | Hypoventilation (HP:0002791) | 2.27998604 |
| 49 | Asymmetric septal hypertrophy (HP:0001670) | 2.26230402 |
| 50 | Wormian bones (HP:0002645) | 2.25901849 |
| 51 | Loss of speech (HP:0002371) | 2.25182715 |
| 52 | Achilles tendon contracture (HP:0001771) | 2.24231028 |
| 53 | White forelock (HP:0002211) | 2.22150307 |
| 54 | Myocardial infarction (HP:0001658) | 2.18514328 |
| 55 | Thin bony cortex (HP:0002753) | 2.13788567 |
| 56 | Long toe (HP:0010511) | 2.13523275 |
| 57 | Striae distensae (HP:0001065) | 2.13279494 |
| 58 | Biconcave vertebral bodies (HP:0004586) | 2.11924962 |
| 59 | Difficulty climbing stairs (HP:0003551) | 2.11296970 |
| 60 | Mitral regurgitation (HP:0001653) | 2.10248448 |
| 61 | Abnormality of the acetabulum (HP:0003170) | 2.08667451 |
| 62 | Tetraparesis (HP:0002273) | 2.08338005 |
| 63 | Bowel diverticulosis (HP:0005222) | 2.08325113 |
| 64 | Turricephaly (HP:0000262) | 2.04987512 |
| 65 | Hyperacusis (HP:0010780) | 2.04658175 |
| 66 | Disinhibition (HP:0000734) | 2.04145764 |
| 67 | Neonatal short-limb short stature (HP:0008921) | 2.02950062 |
| 68 | Subacute progressive viral hepatitis (HP:0006572) | 2.02271703 |
| 69 | Natal tooth (HP:0000695) | 2.00993155 |
| 70 | Type 1 muscle fiber predominance (HP:0003803) | 2.00535369 |
| 71 | Abnormality of the Achilles tendon (HP:0005109) | 1.99803552 |
| 72 | Nonimmune hydrops fetalis (HP:0001790) | 1.99081953 |
| 73 | Enlarged penis (HP:0000040) | 1.98503414 |
| 74 | Cholecystitis (HP:0001082) | 1.97339528 |
| 75 | Abnormal gallbladder physiology (HP:0012438) | 1.97339528 |
| 76 | Back pain (HP:0003418) | 1.96251436 |
| 77 | Hyperextensible skin (HP:0000974) | 1.92749147 |
| 78 | Global brain atrophy (HP:0002283) | 1.92712633 |
| 79 | Renal duplication (HP:0000075) | 1.91147953 |
| 80 | Slender build (HP:0001533) | 1.90529080 |
| 81 | Vascular tortuosity (HP:0004948) | 1.89509299 |
| 82 | Hammertoe (HP:0001765) | 1.88347145 |
| 83 | Mildly elevated creatine phosphokinase (HP:0008180) | 1.88140066 |
| 84 | Upper limb muscle weakness (HP:0003484) | 1.87981183 |
| 85 | Lower limb amyotrophy (HP:0007210) | 1.85990951 |
| 86 | Frequent falls (HP:0002359) | 1.85370706 |
| 87 | Radial bowing (HP:0002986) | 1.84681241 |
| 88 | J-shaped sella turcica (HP:0002680) | 1.83585357 |
| 89 | Bowed forearm bones (HP:0003956) | 1.83287603 |
| 90 | Bowing of the arm (HP:0006488) | 1.83287603 |
| 91 | Hypoplasia of the iris (HP:0007676) | 1.83247130 |
| 92 | Ovoid vertebral bodies (HP:0003300) | 1.83129127 |
| 93 | Primitive reflexes (palmomental, snout, glabellar) (HP:0002476) | 1.83007924 |
| 94 | Spondylolisthesis (HP:0003302) | 1.82665885 |
| 95 | Abnormality of dentin (HP:0010299) | 1.82155276 |
| 96 | Deviation of the hallux (HP:0010051) | 1.82041323 |
| 97 | Hypercortisolism (HP:0001578) | 1.82018246 |
| 98 | Elbow flexion contracture (HP:0002987) | 1.81927515 |
| 99 | Camptodactyly of toe (HP:0001836) | 1.81915637 |
| 100 | Increased variability in muscle fiber diameter (HP:0003557) | 1.81451452 |
| 101 | Joint stiffness (HP:0001387) | 1.80723313 |
| 102 | Scapular winging (HP:0003691) | 1.80240789 |
| 103 | Hallux valgus (HP:0001822) | 1.79789113 |
| 104 | Patchy hypopigmentation of hair (HP:0011365) | 1.79081790 |
| 105 | Distal lower limb amyotrophy (HP:0008944) | 1.78931672 |
| 106 | Disproportionate tall stature (HP:0001519) | 1.78207659 |
| 107 | Increased CSF protein (HP:0002922) | 1.76911775 |
| 108 | Mitral stenosis (HP:0001718) | 1.75591378 |
| 109 | Diminished motivation (HP:0000745) | 1.74661765 |
| 110 | Generalized amyotrophy (HP:0003700) | 1.73352742 |
| 111 | Follicular hyperkeratosis (HP:0007502) | 1.70947279 |
| 112 | Apathy (HP:0000741) | 1.70551668 |
| 113 | Supranuclear gaze palsy (HP:0000605) | 1.70081710 |
| 114 | Arterial tortuosity (HP:0005116) | 1.69619295 |
| 115 | Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204) | 1.69062051 |
| 116 | Short nail (HP:0001799) | 1.67214749 |
| 117 | Abnormality of the peritoneum (HP:0002585) | 1.66372770 |
| 118 | Osteopenia (HP:0000938) | 1.65784262 |
| 119 | Abnormality of skeletal muscle fiber size (HP:0012084) | 1.65370678 |
| 120 | Increased mean platelet volume (HP:0011877) | 1.65283757 |
| 121 | Abnormal delivery (HP:0001787) | 1.65201033 |
| 122 | Skin nodule (HP:0200036) | 1.64565174 |
| 123 | Hematochezia (HP:0002573) | 1.64512547 |
| 124 | Cerebral inclusion bodies (HP:0100314) | 1.64139535 |
| 125 | Long palpebral fissure (HP:0000637) | 1.63814750 |
| 126 | Arnold-Chiari malformation (HP:0002308) | 1.63676768 |
| 127 | Joint laxity (HP:0001388) | 1.63439152 |
| 128 | Breech presentation (HP:0001623) | 1.62590555 |
| 129 | Distal lower limb muscle weakness (HP:0009053) | 1.62326001 |
| 130 | Delayed cranial suture closure (HP:0000270) | 1.61998582 |
| 131 | Wide anterior fontanel (HP:0000260) | 1.61659968 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TRIB3 | 5.34500793 |
| 2 | PKN2 | 4.04542807 |
| 3 | ERN1 | 3.46282000 |
| 4 | TTN | 3.10538742 |
| 5 | EEF2K | 2.65912187 |
| 6 | BMX | 2.56504139 |
| 7 | DDR2 | 2.54178364 |
| 8 | RIPK1 | 2.44753208 |
| 9 | PDGFRA | 2.42129894 |
| 10 | TIE1 | 2.19723633 |
| 11 | PTK6 | 2.11903521 |
| 12 | SCYL2 | 2.11650625 |
| 13 | IRAK3 | 1.88667770 |
| 14 | MARK1 | 1.82912044 |
| 15 | LRRK2 | 1.80535269 |
| 16 | LATS2 | 1.75642258 |
| 17 | PAK4 | 1.68241794 |
| 18 | MAP3K10 | 1.59235447 |
| 19 | PTK2 | 1.56197737 |
| 20 | CDK12 | 1.54228348 |
| 21 | SIK1 | 1.51908949 |
| 22 | PAK2 | 1.47596484 |
| 23 | TBK1 | 1.41921299 |
| 24 | MAP3K6 | 1.39404130 |
| 25 | CAMK1D | 1.38847113 |
| 26 | MST1R | 1.38268727 |
| 27 | ERBB4 | 1.35912476 |
| 28 | ICK | 1.31153144 |
| 29 | EPHB1 | 1.29470322 |
| 30 | KSR2 | 1.26382953 |
| 31 | ARAF | 1.24493957 |
| 32 | SMG1 | 1.20864660 |
| 33 | TESK1 | 1.18124444 |
| 34 | NTRK1 | 1.17358060 |
| 35 | TGFBR2 | 1.16284001 |
| 36 | MET | 1.15695575 |
| 37 | PIM2 | 1.11601282 |
| 38 | LATS1 | 1.11498296 |
| 39 | MTOR | 1.11292384 |
| 40 | RET | 1.11025085 |
| 41 | KIT | 1.07521772 |
| 42 | ALK | 1.05791633 |
| 43 | KDR | 1.03770508 |
| 44 | EPHB2 | 1.02088101 |
| 45 | CAMKK1 | 1.00565089 |
| 46 | PDGFRB | 0.97912949 |
| 47 | PRKD2 | 0.97865327 |
| 48 | EPHA2 | 0.96247861 |
| 49 | MYLK | 0.94890303 |
| 50 | TAOK2 | 0.93930886 |
| 51 | CDK6 | 0.92457416 |
| 52 | CAMK1G | 0.91800249 |
| 53 | PAK6 | 0.91724387 |
| 54 | CDC42BPA | 0.90527181 |
| 55 | PRPF4B | 0.89683197 |
| 56 | TAOK1 | 0.89663045 |
| 57 | MAP2K3 | 0.89497634 |
| 58 | FER | 0.89462575 |
| 59 | ILK | 0.86728789 |
| 60 | CDK15 | 0.86209579 |
| 61 | MARK2 | 0.85551038 |
| 62 | MAP3K2 | 0.85535575 |
| 63 | CDK11A | 0.85158464 |
| 64 | CDK18 | 0.84116941 |
| 65 | CDK14 | 0.84076356 |
| 66 | TRPM7 | 0.83596670 |
| 67 | RPS6KA4 | 0.82663889 |
| 68 | ROCK2 | 0.81845521 |
| 69 | MATK | 0.80079315 |
| 70 | MAP3K9 | 0.78027694 |
| 71 | MOS | 0.75639839 |
| 72 | DMPK | 0.75485091 |
| 73 | STK3 | 0.74392326 |
| 74 | PRKG2 | 0.74274301 |
| 75 | DYRK1B | 0.74016352 |
| 76 | CSNK1G3 | 0.73114796 |
| 77 | MAP3K3 | 0.72655851 |
| 78 | STK10 | 0.72546076 |
| 79 | MAPKAPK3 | 0.71984608 |
| 80 | LIMK1 | 0.70719010 |
| 81 | MAP2K1 | 0.70608766 |
| 82 | MAP3K11 | 0.70155630 |
| 83 | RPS6KA2 | 0.68565278 |
| 84 | CSNK1G2 | 0.68249549 |
| 85 | ABL2 | 0.66834332 |
| 86 | DYRK2 | 0.65200498 |
| 87 | PRKD3 | 0.64041238 |
| 88 | MAP3K8 | 0.63919143 |
| 89 | CSNK1A1L | 0.63091207 |
| 90 | NEK1 | 0.62981280 |
| 91 | TESK2 | 0.62953286 |
| 92 | DAPK3 | 0.62238860 |
| 93 | FLT3 | 0.60997044 |
| 94 | TYRO3 | 0.58585226 |
| 95 | DYRK3 | 0.57880754 |
| 96 | NEK9 | 0.57369888 |
| 97 | PRKCH | 0.56657534 |
| 98 | BRAF | 0.56143145 |
| 99 | FGR | 0.55687179 |
| 100 | NME2 | 0.55653058 |
| 101 | HCK | 0.55533749 |
| 102 | BLK | 0.55214837 |
| 103 | MAP2K7 | 0.55027620 |
| 104 | CSK | 0.54144938 |
| 105 | STK38 | 0.53826628 |
| 106 | CDK7 | 0.53613037 |
| 107 | MAP2K2 | 0.53073020 |
| 108 | PAK1 | 0.52932747 |
| 109 | EGFR | 0.52427034 |
| 110 | PTK2B | 0.52281950 |
| 111 | JAK1 | 0.52175896 |
| 112 | FGFR4 | 0.51281142 |
| 113 | MAP3K1 | 0.50753431 |
| 114 | AKT2 | 0.49084516 |
| 115 | EPHA3 | 0.48722710 |
| 116 | FGFR1 | 0.48623306 |
| 117 | SRC | 0.47974113 |
| 118 | TYK2 | 0.47313155 |
| 119 | LMTK2 | 0.46901668 |
| 120 | ZAP70 | 0.45767824 |
| 121 | PAK3 | 0.45586083 |
| 122 | TAOK3 | 0.44415855 |
| 123 | ROCK1 | 0.43389922 |
| 124 | GSK3A | 0.42898947 |
| 125 | KSR1 | 0.42728770 |
| 126 | JAK2 | 0.42340011 |
| 127 | PRKD1 | 0.41399327 |
| 128 | CLK1 | 0.40323387 |
| 129 | SIK2 | 0.38790027 |
| 130 | CSNK1G1 | 0.37750505 |
| 131 | NEK2 | 0.36463814 |
| 132 | RPS6KC1 | 0.35576288 |
| 133 | RPS6KL1 | 0.35576288 |
| 134 | CDK9 | 0.34910511 |
| 135 | AURKA | 0.34797997 |
| 136 | BCR | 0.33020349 |
| 137 | CAMK2G | 0.30358107 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 3.05453852 |
| 2 | Lysosome_Homo sapiens_hsa04142 | 2.85462798 |
| 3 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 2.20038139 |
| 4 | ECM-receptor interaction_Homo sapiens_hsa04512 | 2.02695285 |
| 5 | Focal adhesion_Homo sapiens_hsa04510 | 1.91953532 |
| 6 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 1.88672728 |
| 7 | Amoebiasis_Homo sapiens_hsa05146 | 1.80767659 |
| 8 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 1.78863450 |
| 9 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 1.72864729 |
| 10 | Bladder cancer_Homo sapiens_hsa05219 | 1.67026762 |
| 11 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 1.64038939 |
| 12 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.60451913 |
| 13 | Phagosome_Homo sapiens_hsa04145 | 1.57343208 |
| 14 | Other glycan degradation_Homo sapiens_hsa00511 | 1.52906072 |
| 15 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 1.43919186 |
| 16 | Steroid biosynthesis_Homo sapiens_hsa00100 | 1.41120135 |
| 17 | Leishmaniasis_Homo sapiens_hsa05140 | 1.41030480 |
| 18 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.40210580 |
| 19 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 1.38840024 |
| 20 | Adherens junction_Homo sapiens_hsa04520 | 1.37634196 |
| 21 | Osteoclast differentiation_Homo sapiens_hsa04380 | 1.37546818 |
| 22 | Axon guidance_Homo sapiens_hsa04360 | 1.36418821 |
| 23 | Tuberculosis_Homo sapiens_hsa05152 | 1.34711884 |
| 24 | Small cell lung cancer_Homo sapiens_hsa05222 | 1.33735693 |
| 25 | mTOR signaling pathway_Homo sapiens_hsa04150 | 1.31795604 |
| 26 | Shigellosis_Homo sapiens_hsa05131 | 1.30574826 |
| 27 | Apoptosis_Homo sapiens_hsa04210 | 1.30535579 |
| 28 | Malaria_Homo sapiens_hsa05144 | 1.30063206 |
| 29 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 1.29185092 |
| 30 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.25302496 |
| 31 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 1.24424263 |
| 32 | Pancreatic cancer_Homo sapiens_hsa05212 | 1.23445824 |
| 33 | Toxoplasmosis_Homo sapiens_hsa05145 | 1.23422524 |
| 34 | Salmonella infection_Homo sapiens_hsa05132 | 1.20669615 |
| 35 | Glioma_Homo sapiens_hsa05214 | 1.18445833 |
| 36 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 1.17962603 |
| 37 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 1.15553999 |
| 38 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 1.15338980 |
| 39 | VEGF signaling pathway_Homo sapiens_hsa04370 | 1.13713900 |
| 40 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 1.11906867 |
| 41 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.11190427 |
| 42 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 1.11031891 |
| 43 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 1.08241690 |
| 44 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.07463780 |
| 45 | Endocytosis_Homo sapiens_hsa04144 | 1.06105921 |
| 46 | Carbon metabolism_Homo sapiens_hsa01200 | 1.06042181 |
| 47 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.05790070 |
| 48 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 1.04843212 |
| 49 | Toll-like receptor signaling pathway_Homo sapiens_hsa04620 | 1.04353874 |
| 50 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 1.04159879 |
| 51 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 1.04104088 |
| 52 | Renal cell carcinoma_Homo sapiens_hsa05211 | 1.04063604 |
| 53 | Pertussis_Homo sapiens_hsa05133 | 1.01755180 |
| 54 | Chagas disease (American trypanosomiasis)_Homo sapiens_hsa05142 | 1.01520939 |
| 55 | Endometrial cancer_Homo sapiens_hsa05213 | 1.00548623 |
| 56 | Melanogenesis_Homo sapiens_hsa04916 | 1.00234440 |
| 57 | Platelet activation_Homo sapiens_hsa04611 | 0.98990441 |
| 58 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.97817494 |
| 59 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.97731035 |
| 60 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.97061067 |
| 61 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.96866765 |
| 62 | Viral myocarditis_Homo sapiens_hsa05416 | 0.96345521 |
| 63 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.95927906 |
| 64 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.95641240 |
| 65 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.94889191 |
| 66 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.91553147 |
| 67 | Fc epsilon RI signaling pathway_Homo sapiens_hsa04664 | 0.91341143 |
| 68 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.90796556 |
| 69 | Colorectal cancer_Homo sapiens_hsa05210 | 0.90490692 |
| 70 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.90326883 |
| 71 | TNF signaling pathway_Homo sapiens_hsa04668 | 0.90286287 |
| 72 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.87001171 |
| 73 | Melanoma_Homo sapiens_hsa05218 | 0.86028324 |
| 74 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.85969642 |
| 75 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.84240310 |
| 76 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 0.84062993 |
| 77 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 0.82540888 |
| 78 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.82185980 |
| 79 | Insulin resistance_Homo sapiens_hsa04931 | 0.81882830 |
| 80 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.80297430 |
| 81 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.79116363 |
| 82 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.79099081 |
| 83 | Galactose metabolism_Homo sapiens_hsa00052 | 0.78933894 |
| 84 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.77445372 |
| 85 | Hepatitis B_Homo sapiens_hsa05161 | 0.77375995 |
| 86 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.76982905 |
| 87 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 0.75129076 |
| 88 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 0.74800098 |
| 89 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.73810316 |
| 90 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.73664048 |
| 91 | Legionellosis_Homo sapiens_hsa05134 | 0.73310307 |
| 92 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.73211212 |
| 93 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.72901546 |
| 94 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.72025001 |
| 95 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.71165114 |
| 96 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.71117282 |
| 97 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.69594375 |
| 98 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.69448928 |
| 99 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.68609021 |
| 100 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 0.67896822 |
| 101 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.67585837 |
| 102 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.67573893 |
| 103 | Thyroid cancer_Homo sapiens_hsa05216 | 0.67546301 |
| 104 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.67495332 |
| 105 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.66486419 |
| 106 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.65849080 |
| 107 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.65723493 |
| 108 | Prion diseases_Homo sapiens_hsa05020 | 0.65631595 |
| 109 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.65194288 |
| 110 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.65145804 |
| 111 | Prostate cancer_Homo sapiens_hsa05215 | 0.64370841 |
| 112 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.63259609 |
| 113 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.61922208 |
| 114 | Pathways in cancer_Homo sapiens_hsa05200 | 0.59792007 |
| 115 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.59402265 |
| 116 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.59301194 |
| 117 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.58917455 |
| 118 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.58418452 |
| 119 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.57867757 |
| 120 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.57643989 |
| 121 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.57377496 |
| 122 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.55181531 |
| 123 | Tight junction_Homo sapiens_hsa04530 | 0.55006550 |
| 124 | HTLV-I infection_Homo sapiens_hsa05166 | 0.54114842 |
| 125 | Gap junction_Homo sapiens_hsa04540 | 0.52433729 |
| 126 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.51969501 |
| 127 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.51218432 |
| 128 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.50609702 |
| 129 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.48989799 |
| 130 | Ras signaling pathway_Homo sapiens_hsa04014 | 0.44146999 |
| 131 | Sulfur relay system_Homo sapiens_hsa04122 | 0.43879833 |
| 132 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.41744447 |
| 133 | Lysine degradation_Homo sapiens_hsa00310 | 0.41288706 |

