

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | melanin biosynthetic process (GO:0042438) | 4.31054655 |
| 2 | neutrophil activation involved in immune response (GO:0002283) | 4.27167038 |
| 3 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 4.13123154 |
| 4 | protein localization to endosome (GO:0036010) | 4.11576712 |
| 5 | regulation of vascular endothelial growth factor signaling pathway (GO:1900746) | 3.76372349 |
| 6 | extracellular fibril organization (GO:0043206) | 3.69478464 |
| 7 | melanin metabolic process (GO:0006582) | 3.68521810 |
| 8 | cell adhesion mediated by integrin (GO:0033627) | 3.64974399 |
| 9 | regulation of vitamin D biosynthetic process (GO:0060556) | 3.54639561 |
| 10 | COPI coating of Golgi vesicle (GO:0048205) | 3.50112025 |
| 11 | Golgi transport vesicle coating (GO:0048200) | 3.50112025 |
| 12 | secondary metabolite biosynthetic process (GO:0044550) | 3.47006202 |
| 13 | regulation of membrane protein ectodomain proteolysis (GO:0051043) | 3.45458044 |
| 14 | fibril organization (GO:0097435) | 3.44816970 |
| 15 | pinocytosis (GO:0006907) | 3.43822964 |
| 16 | membrane budding (GO:0006900) | 3.43244049 |
| 17 | negative regulation of nitric oxide biosynthetic process (GO:0045019) | 3.43198281 |
| 18 | hyaluronan catabolic process (GO:0030214) | 3.43017473 |
| 19 | regulation of early endosome to late endosome transport (GO:2000641) | 3.42918784 |
| 20 | substrate-dependent cell migration (GO:0006929) | 3.40146277 |
| 21 | positive regulation of membrane protein ectodomain proteolysis (GO:0051044) | 3.39698551 |
| 22 | virion attachment to host cell (GO:0019062) | 3.38520401 |
| 23 | adhesion of symbiont to host cell (GO:0044650) | 3.38520401 |
| 24 | stress fiber assembly (GO:0043149) | 3.36494755 |
| 25 | retina vasculature morphogenesis in camera-type eye (GO:0061299) | 3.35358786 |
| 26 | negative regulation of smooth muscle cell migration (GO:0014912) | 3.28750648 |
| 27 | signal peptide processing (GO:0006465) | 3.26782979 |
| 28 | maintenance of protein localization in endoplasmic reticulum (GO:0035437) | 3.22720994 |
| 29 | protein heterotrimerization (GO:0070208) | 3.17869964 |
| 30 | membrane raft organization (GO:0031579) | 3.16700672 |
| 31 | regulation of integrin-mediated signaling pathway (GO:2001044) | 3.12883127 |
| 32 | keratan sulfate catabolic process (GO:0042340) | 3.10742620 |
| 33 | type B pancreatic cell proliferation (GO:0044342) | 3.08414977 |
| 34 | cell migration involved in heart development (GO:0060973) | 3.03940532 |
| 35 | cellular response to nicotine (GO:0071316) | 3.03699114 |
| 36 | regulation of monocyte chemotaxis (GO:0090025) | 3.01074804 |
| 37 | basement membrane organization (GO:0071711) | 2.99013432 |
| 38 | positive regulation of extracellular matrix organization (GO:1903055) | 2.98405141 |
| 39 | bundle of His cell to Purkinje myocyte communication (GO:0086069) | 2.98058328 |
| 40 | wound healing, spreading of epidermal cells (GO:0035313) | 2.94151043 |
| 41 | positive regulation of receptor recycling (GO:0001921) | 2.93148095 |
| 42 | adhesion of symbiont to host (GO:0044406) | 2.92869028 |
| 43 | protein retention in ER lumen (GO:0006621) | 2.91366641 |
| 44 | peptidyl-proline hydroxylation (GO:0019511) | 2.90570381 |
| 45 | collagen fibril organization (GO:0030199) | 2.88633426 |
| 46 | modulation by organism of defense response of other organism involved in symbiotic interaction (GO:0 | 2.87818228 |
| 47 | positive regulation by organism of defense response of other organism involved in symbiotic interact | 2.87818228 |
| 48 | modulation by symbiont of host immune response (GO:0052553) | 2.87818228 |
| 49 | positive regulation by symbiont of host defense response (GO:0052509) | 2.87818228 |
| 50 | modulation by symbiont of host defense response (GO:0052031) | 2.87818228 |
| 51 | modulation by organism of immune response of other organism involved in symbiotic interaction (GO:00 | 2.87818228 |
| 52 | glycosphingolipid catabolic process (GO:0046479) | 2.87151645 |
| 53 | positive regulation of endothelial cell apoptotic process (GO:2000353) | 2.85856447 |
| 54 | protein hydroxylation (GO:0018126) | 2.85035035 |
| 55 | COPII vesicle coating (GO:0048208) | 2.83997471 |
| 56 | positive regulation of monocyte chemotaxis (GO:0090026) | 2.83406406 |
| 57 | regulation of branching involved in salivary gland morphogenesis (GO:0060693) | 2.83003047 |
| 58 | positive regulation of heat generation (GO:0031652) | 2.82716149 |
| 59 | negative regulation of nitric-oxide synthase activity (GO:0051001) | 2.82654042 |
| 60 | low-density lipoprotein particle clearance (GO:0034383) | 2.81765339 |
| 61 | regulation of vitamin metabolic process (GO:0030656) | 2.81304067 |
| 62 | regulation of mononuclear cell migration (GO:0071675) | 2.81069797 |
| 63 | negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315) | 2.80737810 |
| 64 | cellular response to ATP (GO:0071318) | 2.75508152 |
| 65 | regulation of dendritic cell antigen processing and presentation (GO:0002604) | 2.74993070 |
| 66 | sequestering of extracellular ligand from receptor (GO:0035581) | 2.74565480 |
| 67 | negative regulation of protein localization to plasma membrane (GO:1903077) | 2.73409888 |
| 68 | mesenchymal-epithelial cell signaling (GO:0060638) | 2.71304749 |
| 69 | apoptotic cell clearance (GO:0043277) | 2.70669985 |
| 70 | cellular response to interferon-alpha (GO:0035457) | 2.70364830 |
| 71 | detection of temperature stimulus involved in sensory perception (GO:0050961) | 2.68362359 |
| 72 | detection of temperature stimulus involved in sensory perception of pain (GO:0050965) | 2.68362359 |
| 73 | decidualization (GO:0046697) | 2.67532542 |
| 74 | negative regulation of chondrocyte differentiation (GO:0032331) | 2.65697663 |
| 75 | positive regulation of natural killer cell differentiation (GO:0032825) | 2.65369911 |
| 76 | UDP-N-acetylglucosamine metabolic process (GO:0006047) | 2.65330788 |
| 77 | sequestering of metal ion (GO:0051238) | 2.64264160 |
| 78 | oligosaccharide catabolic process (GO:0009313) | 2.63436667 |
| 79 | regulation of cytokine secretion involved in immune response (GO:0002739) | 2.63101618 |
| 80 | glycolipid catabolic process (GO:0019377) | 2.61738008 |
| 81 | granulocyte activation (GO:0036230) | 2.60691208 |
| 82 | positive regulation of p38MAPK cascade (GO:1900745) | 2.60563940 |
| 83 | endothelial cell morphogenesis (GO:0001886) | 2.60143275 |
| 84 | respiratory burst (GO:0045730) | 2.60037359 |
| 85 | neutrophil activation (GO:0042119) | 2.56791361 |
| 86 | positive regulation of chemokine biosynthetic process (GO:0045080) | 2.55706264 |
| 87 | positive regulation of interferon-alpha production (GO:0032727) | 2.55270477 |
| 88 | cortical actin cytoskeleton organization (GO:0030866) | 2.53551542 |
| 89 | collagen catabolic process (GO:0030574) | 2.52697036 |
| 90 | regulation of fever generation (GO:0031620) | 2.52618273 |
| 91 | cellular response to thyroid hormone stimulus (GO:0097067) | 2.52603877 |
| 92 | positive regulation of protein autophosphorylation (GO:0031954) | 2.52121598 |
| 93 | collagen metabolic process (GO:0032963) | 2.51552559 |
| 94 | positive regulation of actin filament depolymerization (GO:0030836) | 2.50498628 |
| 95 | positive regulation of mitochondrial calcium ion concentration (GO:0051561) | 2.48382003 |
| 96 | cellular response to vitamin (GO:0071295) | 2.48349401 |
| 97 | dichotomous subdivision of an epithelial terminal unit (GO:0060600) | 2.48033912 |
| 98 | monocyte chemotaxis (GO:0002548) | 2.47915942 |
| 99 | substrate adhesion-dependent cell spreading (GO:0034446) | 2.47315375 |
| 100 | cellular copper ion homeostasis (GO:0006878) | 2.47136050 |
| 101 | positive regulation of macrophage cytokine production (GO:0060907) | 2.46654264 |
| 102 | regulation of extracellular matrix disassembly (GO:0010715) | 2.45666678 |
| 103 | protein maturation by protein folding (GO:0022417) | 2.44184754 |
| 104 | response to interferon-alpha (GO:0035455) | 2.44176588 |
| 105 | endodermal cell differentiation (GO:0035987) | 2.44170067 |
| 106 | negative regulation of anoikis (GO:2000811) | 2.44074847 |
| 107 | negative regulation of monooxygenase activity (GO:0032769) | 2.44070830 |
| 108 | response to hyperoxia (GO:0055093) | 2.43919479 |
| 109 | response to increased oxygen levels (GO:0036296) | 2.43919479 |
| 110 | negative regulation of hydrogen peroxide-induced cell death (GO:1903206) | 2.43706960 |
| 111 | proteasome assembly (GO:0043248) | 2.43334195 |
| 112 | glial cell migration (GO:0008347) | 2.43196634 |
| 113 | positive regulation of syncytium formation by plasma membrane fusion (GO:0060143) | 2.43003734 |
| 114 | regulation of podosome assembly (GO:0071801) | 2.42627616 |
| 115 | sequestering of actin monomers (GO:0042989) | 2.42066502 |
| 116 | regulation of type B pancreatic cell apoptotic process (GO:2000674) | 2.42032772 |
| 117 | response to peptidoglycan (GO:0032494) | 2.41219070 |
| 118 | membrane protein ectodomain proteolysis (GO:0006509) | 2.40598589 |
| 119 | wound healing, spreading of cells (GO:0044319) | 2.40168611 |
| 120 | macrophage activation involved in immune response (GO:0002281) | 2.39861529 |
| 121 | vesicle coating (GO:0006901) | 2.39272677 |
| 122 | protein localization to cell surface (GO:0034394) | 2.39138947 |
| 123 | regulation of interferon-alpha production (GO:0032647) | 2.38385900 |
| 124 | fibrinolysis (GO:0042730) | 2.38356014 |
| 125 | extracellular matrix assembly (GO:0085029) | 2.37849202 |
| 126 | positive regulation of heterotypic cell-cell adhesion (GO:0034116) | 2.37053907 |
| 127 | regulation of interferon-beta biosynthetic process (GO:0045357) | 2.37037622 |
| 128 | detection of temperature stimulus (GO:0016048) | 2.35239838 |
| 129 | response to thyroid hormone (GO:0097066) | 2.35143418 |
| 130 | regulation of macrophage cytokine production (GO:0010935) | 2.35092926 |
| 131 | hemidesmosome assembly (GO:0031581) | 2.33706572 |
| 132 | negative regulation of macrophage derived foam cell differentiation (GO:0010745) | 2.30872668 |
| 133 | multicellular organismal macromolecule metabolic process (GO:0044259) | 2.30197319 |
| 134 | multicellular organismal catabolic process (GO:0044243) | 2.29963362 |
| 135 | extracellular matrix disassembly (GO:0022617) | 2.29962312 |
| 136 | negative regulation of lipid storage (GO:0010888) | 2.29691591 |
| 137 | positive regulation of myeloid leukocyte cytokine production involved in immune response (GO:0061081 | 2.29602644 |
| 138 | regulation of T cell migration (GO:2000404) | 2.29105011 |
| 139 | regulation of metalloenzyme activity (GO:0048552) | 2.28453754 |
| 140 | positive regulation of T cell migration (GO:2000406) | 2.28172909 |
| 141 | hydrogen peroxide biosynthetic process (GO:0050665) | 2.27681054 |
| 142 | barbed-end actin filament capping (GO:0051016) | 2.27673250 |
| 143 | cellular response to vitamin D (GO:0071305) | 2.27188748 |
| 144 | positive regulation of tumor necrosis factor biosynthetic process (GO:0042535) | 2.25503752 |
| 145 | antigen processing and presentation of endogenous antigen (GO:0019883) | 2.24496116 |
| 146 | peripheral nervous system neuron development (GO:0048935) | 2.21870011 |
| 147 | chondrocyte proliferation (GO:0035988) | 2.20851060 |
| 148 | negative regulation of fatty acid transport (GO:2000192) | 2.20739617 |
| 149 | regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547) | 2.20728685 |
| 150 | multicellular organismal metabolic process (GO:0044236) | 2.20223673 |
| 151 | response to water (GO:0009415) | 2.20026570 |
| 152 | phospholipid scrambling (GO:0017121) | 2.19408112 |
| 153 | endosome to melanosome transport (GO:0035646) | 2.19013743 |
| 154 | endosome to pigment granule transport (GO:0043485) | 2.19013743 |
| 155 | skin morphogenesis (GO:0043589) | 2.18477881 |
| 156 | regulation of T-helper 1 cell differentiation (GO:0045625) | 2.17675210 |
| 157 | eosinophil chemotaxis (GO:0048245) | 2.17658253 |
| 158 | negative regulation of bone resorption (GO:0045779) | 2.17553199 |
| 159 | natural killer cell mediated cytotoxicity (GO:0042267) | 2.17003103 |
| 160 | natural killer cell mediated immunity (GO:0002228) | 2.17003103 |
| 161 | positive regulation of macrophage differentiation (GO:0045651) | 2.16776474 |
| 162 | regulation of antigen processing and presentation (GO:0002577) | 2.16229197 |
| 163 | regulation of cholesterol storage (GO:0010885) | 2.15241563 |
| 164 | positive regulation of cellular amide metabolic process (GO:0034250) | 2.15225702 |
| 165 | lipopolysaccharide-mediated signaling pathway (GO:0031663) | 2.14766847 |
| 166 | phagocytosis, recognition (GO:0006910) | 2.13768830 |
| 167 | response to lipoprotein particle (GO:0055094) | 2.13427128 |
| 168 | positive regulation of lymphocyte migration (GO:2000403) | 2.12164887 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 4.94092701 |
| 2 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 4.63002513 |
| 3 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 4.01257453 |
| 4 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 4.00943626 |
| 5 | IRF8_21731497_ChIP-ChIP_J774_Mouse | 3.32482750 |
| 6 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 2.86725058 |
| 7 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 2.72231186 |
| 8 | Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse | 2.59836429 |
| 9 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 2.58266772 |
| 10 | RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human | 2.57732393 |
| 11 | CLOCK_20551151_ChIP-Seq_293T_Human | 2.37203933 |
| 12 | GATA1_22025678_ChIP-Seq_K562_Human | 2.30167939 |
| 13 | TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 2.29796675 |
| 14 | * CJUN_26792858_Chip-Seq_BT549_Human | 2.28841440 |
| 15 | * SOX2_20726797_ChIP-Seq_SW620_Human | 2.21297139 |
| 16 | IRF8_27001747_Chip-Seq_BMDM_Mouse | 2.16724762 |
| 17 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 2.14614911 |
| 18 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 2.14512983 |
| 19 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 2.13471884 |
| 20 | GATA2_21666600_ChIP-Seq_HMVEC_Human | 2.13380122 |
| 21 | NFE2L2_20460467_ChIP-Seq_MEFs_Mouse | 2.08079145 |
| 22 | NRF2_20460467_ChIP-Seq_MEFs_Mouse | 2.08079145 |
| 23 | FOXP3_17237761_ChIP-ChIP_TREG_Mouse | 2.07672505 |
| 24 | NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse | 2.07248026 |
| 25 | SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse | 2.05906212 |
| 26 | IRF1_21803131_ChIP-Seq_MONOCYTES_Human | 1.99348544 |
| 27 | NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human | 1.95963028 |
| 28 | STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse | 1.94321849 |
| 29 | MYB_21317192_ChIP-Seq_ERMYB_Mouse | 1.91200291 |
| 30 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.90904817 |
| 31 | TFEB_21752829_ChIP-Seq_HELA_Human | 1.88871385 |
| 32 | CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 1.88676291 |
| 33 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 1.84548610 |
| 34 | SMAD3_18955504_ChIP-ChIP_HaCaT_Human | 1.81488226 |
| 35 | SMAD2_18955504_ChIP-ChIP_HaCaT_Human | 1.81488226 |
| 36 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 1.78849405 |
| 37 | WT1_19549856_ChIP-ChIP_CCG9911_Human | 1.76817963 |
| 38 | CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse | 1.76513422 |
| 39 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.74423234 |
| 40 | SMAD_19615063_ChIP-ChIP_OVARY_Human | 1.71087609 |
| 41 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 1.70332579 |
| 42 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 1.65967043 |
| 43 | * ATF3_23680149_ChIP-Seq_GBM1-GSC_Human | 1.65632175 |
| 44 | * RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 1.60358704 |
| 45 | IRF8_22096565_ChIP-ChIP_GC-B_Mouse | 1.57223868 |
| 46 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.56542467 |
| 47 | * ESR1_22446102_ChIP-Seq_UTERUS_Mouse | 1.55852423 |
| 48 | * JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.55831341 |
| 49 | EOMES_20176728_ChIP-ChIP_TSCs_Mouse | 1.48578230 |
| 50 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.46841689 |
| 51 | MECOM_23826213_ChIP-Seq_KASUMI_Mouse | 1.46737585 |
| 52 | * JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.46481360 |
| 53 | VDR_24787735_ChIP-Seq_THP-1_Human | 1.46226462 |
| 54 | EP300_21415370_ChIP-Seq_HL-1_Mouse | 1.45102633 |
| 55 | PPAR_26484153_Chip-Seq_NCI-H1993_Human | 1.40809897 |
| 56 | NKX2-5_21415370_ChIP-Seq_HL-1_Mouse | 1.39837538 |
| 57 | NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 1.38885695 |
| 58 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.38464933 |
| 59 | * SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 1.35424276 |
| 60 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 1.35075585 |
| 61 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 1.34009588 |
| 62 | SALL4_18804426_ChIP-ChIP_XEN_Mouse | 1.33265838 |
| 63 | STAT3_20064451_ChIP-Seq_CD4+T_Mouse | 1.29919995 |
| 64 | FOXO3_23340844_ChIP-Seq_DLD1_Human | 1.29835278 |
| 65 | P63_26484246_Chip-Seq_KERATINOCYTES_Human | 1.28628462 |
| 66 | P300_27058665_Chip-Seq_ZR-75-30cells_Human | 1.28568172 |
| 67 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 1.24351154 |
| 68 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 1.23375498 |
| 69 | STAT6_20620947_ChIP-Seq_CD4_POS_T_Human | 1.21353192 |
| 70 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 1.17580403 |
| 71 | MEF2A_21415370_ChIP-Seq_HL-1_Mouse | 1.16461138 |
| 72 | * STAT4_19710469_ChIP-ChIP_TH1__Mouse | 1.16343759 |
| 73 | KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.16094774 |
| 74 | BRD4_25478319_ChIP-Seq_HGPS_Human | 1.15868093 |
| 75 | PRDM5_23873026_ChIP-Seq_MEFs_Mouse | 1.15662769 |
| 76 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.15387395 |
| 77 | CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse | 1.15014961 |
| 78 | ELK3_25401928_ChIP-Seq_HUVEC_Human | 1.13909589 |
| 79 | SOX17_20123909_ChIP-Seq_XEN_Mouse | 1.11003055 |
| 80 | STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse | 1.10539550 |
| 81 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 1.07548681 |
| 82 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 1.07172524 |
| 83 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 1.07061802 |
| 84 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 1.06550405 |
| 85 | TP63_23658742_ChIP-Seq_EP156T_Human | 1.01006621 |
| 86 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.00365134 |
| 87 | GATA4_25053715_ChIP-Seq_YYC3_Human | 0.99663803 |
| 88 | * TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 0.99339900 |
| 89 | GATA4_21415370_ChIP-Seq_HL-1_Mouse | 0.99279288 |
| 90 | GATA3_24758297_ChIP-Seq_MCF-7_Human | 0.98122647 |
| 91 | EGR1_19032775_ChIP-ChIP_M12_Human | 0.97953616 |
| 92 | ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.97681533 |
| 93 | RXR_22158963_ChIP-Seq_LIVER_Mouse | 0.97509158 |
| 94 | BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human | 0.96918636 |
| 95 | ELK1_19687146_ChIP-ChIP_HELA_Human | 0.96628886 |
| 96 | E2F1_18555785_ChIP-Seq_MESCs_Mouse | 0.96208969 |
| 97 | CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse | 0.95777545 |
| 98 | SPI1_23127762_ChIP-Seq_K562_Human | 0.93075571 |
| 99 | PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse | 0.92959009 |
| 100 | ZNF263_19887448_ChIP-Seq_K562_Human | 0.91204879 |
| 101 | KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.91107986 |
| 102 | * UBF1/2_26484160_Chip-Seq_HMECs_Human | 0.91013392 |
| 103 | BRD4_27068464_Chip-Seq_AML-cells_Mouse | 0.90308214 |
| 104 | PU_27001747_Chip-Seq_BMDM_Mouse | 0.89478357 |
| 105 | SA1_22415368_ChIP-Seq_MEFs_Mouse | 0.88950917 |
| 106 | SMC1_22415368_ChIP-Seq_MEFs_Mouse | 0.88434420 |
| 107 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 0.88285333 |
| 108 | VDR_24763502_ChIP-Seq_THP-1_Human | 0.87795001 |
| 109 | NANOG_18692474_ChIP-Seq_MEFs_Mouse | 0.87753380 |
| 110 | ZIC3_20872845_ChIP-ChIP_MESCs_Mouse | 0.87393633 |
| 111 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 0.87337409 |
| 112 | TCF3_18692474_ChIP-Seq_MEFs_Mouse | 0.85988203 |
| 113 | * SOX9_24532713_ChIP-Seq_HFSC_Mouse | 0.85782415 |
| 114 | NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human | 0.85677746 |
| 115 | FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 0.85540933 |
| 116 | NR3C1_23031785_ChIP-Seq_PC12_Mouse | 0.85187029 |
| 117 | * ELK1_22589737_ChIP-Seq_MCF10A_Human | 0.84813682 |
| 118 | * TBX20_22080862_ChIP-Seq_HEART_Mouse | 0.84736831 |
| 119 | * TBX20_22328084_ChIP-Seq_HEART_Mouse | 0.84736831 |
| 120 | * PPARG_20887899_ChIP-Seq_3T3-L1_Mouse | 0.83833602 |
| 121 | EOMES_21245162_ChIP-Seq_HESCs_Human | 0.83616045 |
| 122 | * WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 0.82980218 |
| 123 | CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 0.82263432 |
| 124 | TP53_22127205_ChIP-Seq_IMR90_Human | 0.80910498 |
| 125 | CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse | 0.77719621 |
| 126 | ATF3_27146783_Chip-Seq_COLON_Human | 0.76514621 |
| 127 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 0.76029366 |
| 128 | GATA3_26560356_Chip-Seq_TH2_Human | 0.75991253 |
| 129 | SOX2_27498859_Chip-Seq_STOMACH_Mouse | 0.75547716 |
| 130 | PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 0.74808965 |
| 131 | FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.74387048 |
| 132 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 0.73347060 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0008438_abnormal_cutaneous_collagen | 4.54202222 |
| 2 | MP0003950_abnormal_plasma_membrane | 3.52330344 |
| 3 | MP0005171_absent_coat_pigmentation | 3.14829128 |
| 4 | MP0005275_abnormal_skin_tensile | 2.80826556 |
| 5 | MP0003279_aneurysm | 2.41806891 |
| 6 | MP0002877_abnormal_melanocyte_morpholog | 2.41183613 |
| 7 | MP0005058_abnormal_lysosome_morphology | 2.36771650 |
| 8 | MP0005503_abnormal_tendon_morphology | 2.36638445 |
| 9 | MP0001542_abnormal_bone_strength | 2.26735794 |
| 10 | MP0004272_abnormal_basement_membrane | 2.25808145 |
| 11 | MP0001958_emphysema | 2.20946747 |
| 12 | MP0003436_decreased_susceptibility_to | 2.19151065 |
| 13 | MP0001835_abnormal_antigen_presentation | 2.18156226 |
| 14 | MP0003566_abnormal_cell_adhesion | 2.13814008 |
| 15 | MP0001533_abnormal_skeleton_physiology | 2.13162625 |
| 16 | MP0009785_altered_susceptibility_to | 2.11652749 |
| 17 | MP0009840_abnormal_foam_cell | 1.97770472 |
| 18 | MP0004858_abnormal_nervous_system | 1.92239882 |
| 19 | MP0004782_abnormal_surfactant_physiolog | 1.91955728 |
| 20 | MP0003724_increased_susceptibility_to | 1.91462070 |
| 21 | MP0003705_abnormal_hypodermis_morpholog | 1.91190602 |
| 22 | MP0003806_abnormal_nucleotide_metabolis | 1.89828517 |
| 23 | MP0000343_altered_response_to | 1.72852231 |
| 24 | * MP0002148_abnormal_hypersensitivity_rea | 1.72724375 |
| 25 | MP0002735_abnormal_chemical_nociception | 1.72084735 |
| 26 | MP0002419_abnormal_innate_immunity | 1.71951923 |
| 27 | MP0000685_abnormal_immune_system | 1.71329483 |
| 28 | MP0002295_abnormal_pulmonary_circulatio | 1.70307203 |
| 29 | MP0002933_joint_inflammation | 1.69585635 |
| 30 | MP0002998_abnormal_bone_remodeling | 1.66621918 |
| 31 | MP0010386_abnormal_urinary_bladder | 1.61756271 |
| 32 | MP0003172_abnormal_lysosome_physiology | 1.60370274 |
| 33 | MP0006082_CNS_inflammation | 1.58550390 |
| 34 | MP0000371_diluted_coat_color | 1.55011070 |
| 35 | MP0001986_abnormal_taste_sensitivity | 1.54533348 |
| 36 | MP0004510_myositis | 1.53658682 |
| 37 | MP0005023_abnormal_wound_healing | 1.51197696 |
| 38 | MP0005390_skeleton_phenotype | 1.48773522 |
| 39 | MP0005000_abnormal_immune_tolerance | 1.47447700 |
| 40 | MP0005164_abnormal_response_to | 1.47199409 |
| 41 | MP0002896_abnormal_bone_mineralization | 1.45969690 |
| 42 | MP0003300_gastrointestinal_ulcer | 1.42245836 |
| 43 | MP0006054_spinal_hemorrhage | 1.38998832 |
| 44 | MP0003186_abnormal_redox_activity | 1.38383143 |
| 45 | MP0000372_irregular_coat_pigmentation | 1.37938508 |
| 46 | MP0001299_abnormal_eye_distance/ | 1.37792340 |
| 47 | MP0005257_abnormal_intraocular_pressure | 1.37674142 |
| 48 | MP0001348_abnormal_lacrimal_gland | 1.34912018 |
| 49 | MP0001790_abnormal_immune_system | 1.34764680 |
| 50 | MP0005387_immune_system_phenotype | 1.34764680 |
| 51 | MP0002736_abnormal_nociception_after | 1.31645906 |
| 52 | MP0000015_abnormal_ear_pigmentation | 1.31309813 |
| 53 | MP0003091_abnormal_cell_migration | 1.29331338 |
| 54 | MP0009384_cardiac_valve_regurgitation | 1.29308212 |
| 55 | MP0005197_abnormal_uvea_morphology | 1.27595152 |
| 56 | MP0003941_abnormal_skin_development | 1.27563426 |
| 57 | MP0003045_fibrosis | 1.22778258 |
| 58 | MP0001968_abnormal_touch/_nociception | 1.21689234 |
| 59 | MP0001879_abnormal_lymphatic_vessel | 1.21132522 |
| 60 | MP0003795_abnormal_bone_structure | 1.20776272 |
| 61 | MP0005595_abnormal_vascular_smooth | 1.19218371 |
| 62 | MP0000013_abnormal_adipose_tissue | 1.18223728 |
| 63 | MP0005025_abnormal_response_to | 1.18084860 |
| 64 | MP0000858_altered_metastatic_potential | 1.17786804 |
| 65 | MP0003195_calcinosis | 1.17780902 |
| 66 | MP0005623_abnormal_meninges_morphology | 1.17748530 |
| 67 | MP0002405_respiratory_system_inflammati | 1.16368207 |
| 68 | MP0003448_altered_tumor_morphology | 1.14105786 |
| 69 | MP0001270_distended_abdomen | 1.14065286 |
| 70 | MP0002254_reproductive_system_inflammat | 1.13757978 |
| 71 | MP0008260_abnormal_autophagy | 1.11097358 |
| 72 | MP0005508_abnormal_skeleton_morphology | 1.10639299 |
| 73 | MP0000163_abnormal_cartilage_morphology | 1.10316194 |
| 74 | MP0001853_heart_inflammation | 1.09339409 |
| 75 | MP0003191_abnormal_cellular_cholesterol | 1.08130553 |
| 76 | MP0004883_abnormal_blood_vessel | 1.06998671 |
| 77 | MP0004134_abnormal_chest_morphology | 1.06254313 |
| 78 | MP0004947_skin_inflammation | 1.05996911 |
| 79 | MP0008004_abnormal_stomach_pH | 1.04003121 |
| 80 | MP0002115_abnormal_skeleton_extremities | 1.01857839 |
| 81 | MP0005464_abnormal_platelet_physiology | 1.01409048 |
| 82 | MP0010368_abnormal_lymphatic_system | 1.01106140 |
| 83 | MP0000538_abnormal_urinary_bladder | 1.00909508 |
| 84 | MP0003453_abnormal_keratinocyte_physiol | 1.00692948 |
| 85 | MP0002168_other_aberrant_phenotype | 1.00335006 |
| 86 | MP0004233_abnormal_muscle_weight | 1.00220366 |
| 87 | MP0000767_abnormal_smooth_muscle | 1.00187808 |
| 88 | MP0002060_abnormal_skin_morphology | 0.99840158 |
| 89 | MP0009764_decreased_sensitivity_to | 0.99745580 |
| 90 | MP0003828_pulmonary_edema | 0.99531017 |
| 91 | MP0002452_abnormal_antigen_presenting | 0.97702860 |
| 92 | MP0003075_altered_response_to | 0.96606641 |
| 93 | MP0001915_intracranial_hemorrhage | 0.95875557 |
| 94 | MP0003303_peritoneal_inflammation | 0.95848775 |
| 95 | * MP0001845_abnormal_inflammatory_respons | 0.94357775 |
| 96 | MP0003136_yellow_coat_color | 0.93943547 |
| 97 | MP0002090_abnormal_vision | 0.93778727 |
| 98 | MP0002282_abnormal_trachea_morphology | 0.93005426 |
| 99 | MP0001849_ear_inflammation | 0.92702249 |
| 100 | MP0010030_abnormal_orbit_morphology | 0.92561684 |
| 101 | MP0002733_abnormal_thermal_nociception | 0.91029993 |
| 102 | MP0003183_abnormal_peptide_metabolism | 0.89650432 |
| 103 | MP0005165_increased_susceptibility_to | 0.89445429 |
| 104 | MP0000249_abnormal_blood_vessel | 0.89233925 |
| 105 | MP0002113_abnormal_skeleton_development | 0.88827306 |
| 106 | MP0009780_abnormal_chondrocyte_physiolo | 0.88201453 |
| 107 | MP0000749_muscle_degeneration | 0.86752831 |
| 108 | MP0009250_abnormal_appendicular_skeleto | 0.85554942 |
| 109 | MP0001186_pigmentation_phenotype | 0.85329898 |
| 110 | MP0009278_abnormal_bone_marrow | 0.84236084 |
| 111 | MP0005083_abnormal_biliary_tract | 0.83638715 |
| 112 | MP0000604_amyloidosis | 0.83522850 |
| 113 | MP0000733_abnormal_muscle_development | 0.83333128 |
| 114 | MP0005193_abnormal_anterior_eye | 0.83053179 |
| 115 | MP0005166_decreased_susceptibility_to | 0.82245033 |
| 116 | MP0002138_abnormal_hepatobiliary_system | 0.82081771 |
| 117 | MP0010352_gastrointestinal_tract_polyps | 0.81065787 |
| 118 | * MP0002723_abnormal_immune_serum | 0.80968791 |
| 119 | MP0005408_hypopigmentation | 0.80772935 |
| 120 | MP0008469_abnormal_protein_level | 0.79843470 |
| 121 | MP0002075_abnormal_coat/hair_pigmentati | 0.79099353 |
| 122 | MP0001243_abnormal_dermal_layer | 0.77700058 |
| 123 | MP0002332_abnormal_exercise_endurance | 0.72534837 |
| 124 | MP0000751_myopathy | 0.72271005 |
| 125 | MP0000569_abnormal_digit_pigmentation | 0.70044921 |
| 126 | MP0010234_abnormal_vibrissa_follicle | 0.62885615 |
| 127 | MP0002095_abnormal_skin_pigmentation | 0.61185576 |
| 128 | MP0005621_abnormal_cell_physiology | 0.57904566 |
| 129 | MP0001324_abnormal_eye_pigmentation | 0.57479874 |
| 130 | MP0000920_abnormal_myelination | 0.55527545 |
| 131 | MP0001614_abnormal_blood_vessel | 0.54258657 |
| 132 | MP0000759_abnormal_skeletal_muscle | 0.53258784 |
| 133 | MP0002108_abnormal_muscle_morphology | 0.52583353 |
| 134 | MP0005174_abnormal_tail_pigmentation | 0.52431484 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Vertebral compression fractures (HP:0002953) | 4.59293586 |
| 2 | Abnormality of proline metabolism (HP:0010907) | 4.05523097 |
| 3 | Hydroxyprolinuria (HP:0003080) | 4.05523097 |
| 4 | Premature rupture of membranes (HP:0001788) | 4.01735351 |
| 5 | Epiphyseal dysplasia (HP:0002656) | 3.90587490 |
| 6 | Protrusio acetabuli (HP:0003179) | 3.51125009 |
| 7 | Eczematoid dermatitis (HP:0000976) | 3.35939711 |
| 8 | Cervical subluxation (HP:0003308) | 3.34512184 |
| 9 | Beaking of vertebral bodies (HP:0004568) | 3.23371021 |
| 10 | Vacuolated lymphocytes (HP:0001922) | 3.16794575 |
| 11 | Dysostosis multiplex (HP:0000943) | 3.02553914 |
| 12 | Tetraparesis (HP:0002273) | 3.02387476 |
| 13 | Atrophic scars (HP:0001075) | 2.98368111 |
| 14 | Increased cerebral lipofuscin (HP:0011813) | 2.87266241 |
| 15 | Thoracolumbar scoliosis (HP:0002944) | 2.83890845 |
| 16 | Short nail (HP:0001799) | 2.82132258 |
| 17 | Recurrent abscess formation (HP:0002722) | 2.79539569 |
| 18 | Nuclear cataract (HP:0100018) | 2.79175300 |
| 19 | Cupped ribs (HP:0000887) | 2.78722821 |
| 20 | Osteolytic defects of the phalanges of the hand (HP:0009771) | 2.75789624 |
| 21 | Osteolytic defects of the hand bones (HP:0009699) | 2.75789624 |
| 22 | Wormian bones (HP:0002645) | 2.74483468 |
| 23 | Bladder diverticulum (HP:0000015) | 2.73864812 |
| 24 | Interstitial pulmonary disease (HP:0006530) | 2.71419997 |
| 25 | Increased neuronal autofluorescent lipopigment (HP:0002074) | 2.68328301 |
| 26 | Abnormality of dentin (HP:0010299) | 2.67923490 |
| 27 | Axonal loss (HP:0003447) | 2.67643711 |
| 28 | Mucopolysacchariduria (HP:0008155) | 2.66773911 |
| 29 | Urinary glycosaminoglycan excretion (HP:0003541) | 2.66773911 |
| 30 | White forelock (HP:0002211) | 2.66073957 |
| 31 | Patchy hypopigmentation of hair (HP:0011365) | 2.60825272 |
| 32 | Cardiovascular calcification (HP:0011915) | 2.58865454 |
| 33 | Mitral stenosis (HP:0001718) | 2.56614008 |
| 34 | Reduced subcutaneous adipose tissue (HP:0003758) | 2.56037053 |
| 35 | Ovoid vertebral bodies (HP:0003300) | 2.54660451 |
| 36 | Peritonitis (HP:0002586) | 2.49693690 |
| 37 | Aortic dissection (HP:0002647) | 2.45097240 |
| 38 | Recurrent bacterial skin infections (HP:0005406) | 2.44350239 |
| 39 | Neonatal short-limb short stature (HP:0008921) | 2.43960390 |
| 40 | Osteoarthritis (HP:0002758) | 2.43803225 |
| 41 | Segmental peripheral demyelination/remyelination (HP:0003481) | 2.42763337 |
| 42 | Metaphyseal dysplasia (HP:0100255) | 2.40843689 |
| 43 | Loss of speech (HP:0002371) | 2.39781196 |
| 44 | Abnormality of mucopolysaccharide metabolism (HP:0011020) | 2.39355164 |
| 45 | Abnormality of polysaccharide metabolism (HP:0011012) | 2.39355164 |
| 46 | Abnormality of glycosaminoglycan metabolism (HP:0004371) | 2.39355164 |
| 47 | Abnormality of macrophages (HP:0004311) | 2.38138324 |
| 48 | Irregular epiphyses (HP:0010582) | 2.37749144 |
| 49 | Spinal rigidity (HP:0003306) | 2.37481628 |
| 50 | Elbow flexion contracture (HP:0002987) | 2.35625861 |
| 51 | Abnormality of the ischium (HP:0003174) | 2.33292309 |
| 52 | Genu recurvatum (HP:0002816) | 2.32728374 |
| 53 | Follicular hyperkeratosis (HP:0007502) | 2.31459469 |
| 54 | Platyspondyly (HP:0000926) | 2.30207546 |
| 55 | Protuberant abdomen (HP:0001538) | 2.29953541 |
| 56 | Abnormality of the lumbar spine (HP:0100712) | 2.29411075 |
| 57 | Aortic aneurysm (HP:0004942) | 2.27630045 |
| 58 | Slender build (HP:0001533) | 2.25957151 |
| 59 | Vascular tortuosity (HP:0004948) | 2.25383609 |
| 60 | Coxa vara (HP:0002812) | 2.24352596 |
| 61 | Generalized amyotrophy (HP:0003700) | 2.23165612 |
| 62 | Hypoplasia of the odontoid process (HP:0003311) | 2.22887235 |
| 63 | Ulnar claw (HP:0001178) | 2.21750021 |
| 64 | Hypoplastic ischia (HP:0003175) | 2.19875436 |
| 65 | Fragile skin (HP:0001030) | 2.19634621 |
| 66 | Joint stiffness (HP:0001387) | 2.19330125 |
| 67 | Type 1 muscle fiber predominance (HP:0003803) | 2.18688716 |
| 68 | Flat acetabular roof (HP:0003180) | 2.17103762 |
| 69 | Vitreoretinal degeneration (HP:0000655) | 2.16114531 |
| 70 | Biconcave vertebral bodies (HP:0004586) | 2.14761552 |
| 71 | Recurrent gram-negative bacterial infections (HP:0005420) | 2.11493547 |
| 72 | Soft skin (HP:0000977) | 2.09852619 |
| 73 | Primitive reflexes (palmomental, snout, glabellar) (HP:0002476) | 2.08860769 |
| 74 | Myocardial infarction (HP:0001658) | 2.08529495 |
| 75 | Albinism (HP:0001022) | 2.07847614 |
| 76 | Autoimmune thrombocytopenia (HP:0001973) | 2.07682290 |
| 77 | Hypoplasia of the iris (HP:0007676) | 2.06680113 |
| 78 | Absent frontal sinuses (HP:0002688) | 2.06294583 |
| 79 | Arterial tortuosity (HP:0005116) | 2.06127029 |
| 80 | Abnormality of glycolipid metabolism (HP:0010969) | 2.04986358 |
| 81 | Abnormality of liposaccharide metabolism (HP:0010968) | 2.04986358 |
| 82 | Abnormality of glycosphingolipid metabolism (HP:0004343) | 2.04986358 |
| 83 | Delayed cranial suture closure (HP:0000270) | 2.04122053 |
| 84 | Aortic regurgitation (HP:0001659) | 2.03982224 |
| 85 | Shallow orbits (HP:0000586) | 2.03336767 |
| 86 | Abnormal delivery (HP:0001787) | 2.02526578 |
| 87 | Pathologic fracture (HP:0002756) | 2.02445819 |
| 88 | Delayed closure of the anterior fontanelle (HP:0001476) | 2.01880701 |
| 89 | Systemic lupus erythematosus (HP:0002725) | 2.01183676 |
| 90 | Increased connective tissue (HP:0009025) | 2.00534058 |
| 91 | Abnormality of the odontoid process (HP:0003310) | 2.00264737 |
| 92 | Disproportionate short-trunk short stature (HP:0003521) | 1.99898656 |
| 93 | Ocular albinism (HP:0001107) | 1.99868212 |
| 94 | Natal tooth (HP:0000695) | 1.99599729 |
| 95 | Vascular calcification (HP:0004934) | 1.98510471 |
| 96 | Flat capital femoral epiphysis (HP:0003370) | 1.98021189 |
| 97 | Dysautonomia (HP:0002459) | 1.96453467 |
| 98 | Hypothermia (HP:0002045) | 1.96113517 |
| 99 | Ankle contracture (HP:0006466) | 1.96099511 |
| 100 | Dilatation of the ascending aorta (HP:0005111) | 1.95997395 |
| 101 | Autoamputation (HP:0001218) | 1.94895187 |
| 102 | Hyperextensible skin (HP:0000974) | 1.94548944 |
| 103 | Abnormal tarsal ossification (HP:0008369) | 1.94318142 |
| 104 | Aortic valve stenosis (HP:0001650) | 1.94050054 |
| 105 | Broad metatarsal (HP:0001783) | 1.93946184 |
| 106 | Abnormality of the acetabulum (HP:0003170) | 1.92869269 |
| 107 | Abnormality of the vertebral endplates (HP:0005106) | 1.91525737 |
| 108 | Aplasia/Hypoplasia of the frontal sinuses (HP:0009119) | 1.91276661 |
| 109 | Spondylolisthesis (HP:0003302) | 1.91102068 |
| 110 | Mitral regurgitation (HP:0001653) | 1.90524700 |
| 111 | Amyloidosis (HP:0011034) | 1.90163309 |
| 112 | Aplasia/Hypoplasia of the macula (HP:0008059) | 1.89269348 |
| 113 | Elevated erythrocyte sedimentation rate (HP:0003565) | 1.88327263 |
| 114 | Neurofibrillary tangles (HP:0002185) | 1.88087317 |
| 115 | Blue sclerae (HP:0000592) | 1.87825527 |
| 116 | Lumbar hyperlordosis (HP:0002938) | 1.86945809 |
| 117 | Nonimmune hydrops fetalis (HP:0001790) | 1.85616027 |
| 118 | Cerebral aneurysm (HP:0004944) | 1.85592850 |
| 119 | Abnormality of the umbilical cord (HP:0010881) | 1.85213493 |
| 120 | Joint laxity (HP:0001388) | 1.83525079 |
| 121 | Aneurysm (HP:0002617) | 1.83435127 |
| 122 | Episodic fever (HP:0001954) | 1.83315055 |
| 123 | Hypercortisolism (HP:0001578) | 1.82937187 |
| 124 | Mitral valve prolapse (HP:0001634) | 1.81968079 |
| 125 | Orthostatic hypotension (HP:0001278) | 1.79775575 |
| 126 | Skin nodule (HP:0200036) | 1.79744359 |
| 127 | Hyperparathyroidism (HP:0000843) | 1.79145522 |
| 128 | Abnormality of the distal phalanges of the toes (HP:0010182) | 1.79016790 |
| 129 | Femoral bowing (HP:0002980) | 1.77650598 |
| 130 | Irregular vertebral endplates (HP:0003301) | 1.77577780 |
| 131 | Aplasia/Hypoplasia involving the sinuses (HP:0009120) | 1.76487804 |
| 132 | Distal upper limb amyotrophy (HP:0007149) | 1.76329426 |
| 133 | Upper limb amyotrophy (HP:0009129) | 1.76329426 |
| 134 | Prolonged neonatal jaundice (HP:0006579) | 1.75813801 |
| 135 | Abnormality of glutamine family amino acid metabolism (HP:0010902) | 1.74622841 |
| 136 | Right ventricular cardiomyopathy (HP:0011663) | 1.74598038 |
| 137 | Abnormality of skull ossification (HP:0002703) | 1.74431686 |
| 138 | Hypoplasia of the fovea (HP:0007750) | 1.73555073 |
| 139 | Aplasia/Hypoplasia of the fovea (HP:0008060) | 1.73555073 |
| 140 | Aplasia/Hypoplasia affecting the retina (HP:0008061) | 1.73409768 |
| 141 | Glucose intolerance (HP:0000833) | 1.72848174 |
| 142 | Flared iliac wings (HP:0002869) | 1.72440043 |
| 143 | Abnormal foot bone ossification (HP:0010675) | 1.72141316 |
| 144 | Hypoalphalipoproteinemia (HP:0003233) | 1.71800747 |
| 145 | Distal lower limb muscle weakness (HP:0009053) | 1.71738281 |
| 146 | Bowel diverticulosis (HP:0005222) | 1.71731001 |
| 147 | Metaphyseal irregularity (HP:0003025) | 1.70784185 |
| 148 | Cerebral inclusion bodies (HP:0100314) | 1.70704646 |
| 149 | Flattened epiphyses (HP:0003071) | 1.69756179 |
| 150 | Thin bony cortex (HP:0002753) | 1.69438623 |
| 151 | Long toe (HP:0010511) | 1.69166943 |
| 152 | Arthropathy (HP:0003040) | 1.69092837 |
| 153 | Progressive neurologic deterioration (HP:0002344) | 1.66797748 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PAK4 | 2.91381850 |
| 2 | FRK | 2.82734513 |
| 3 | PIM2 | 2.78807891 |
| 4 | DDR2 | 2.47943276 |
| 5 | TESK1 | 2.43107138 |
| 6 | MAP3K14 | 2.31520767 |
| 7 | MAP3K12 | 2.29672041 |
| 8 | NTRK1 | 2.29562704 |
| 9 | PDK2 | 2.29067497 |
| 10 | ERN1 | 2.19872980 |
| 11 | LIMK1 | 2.12807177 |
| 12 | TBK1 | 2.11066494 |
| 13 | TRPM7 | 2.10775047 |
| 14 | EPHA3 | 2.07882785 |
| 15 | EPHB1 | 2.03204461 |
| 16 | MAP3K3 | 1.99900205 |
| 17 | LATS2 | 1.99827875 |
| 18 | ERBB3 | 1.92879555 |
| 19 | NEK9 | 1.92094350 |
| 20 | GRK7 | 1.89136003 |
| 21 | ERBB4 | 1.83536723 |
| 22 | EIF2AK1 | 1.82115437 |
| 23 | MST4 | 1.78269781 |
| 24 | EIF2AK3 | 1.62658816 |
| 25 | MAP3K2 | 1.57706885 |
| 26 | TRIB3 | 1.56881695 |
| 27 | TGFBR2 | 1.56032018 |
| 28 | JAK3 | 1.53636386 |
| 29 | MAPK15 | 1.50838920 |
| 30 | PRKG2 | 1.49928707 |
| 31 | MATK | 1.46015908 |
| 32 | RIPK4 | 1.45621715 |
| 33 | TTN | 1.45021309 |
| 34 | NME2 | 1.43116433 |
| 35 | ARAF | 1.42792175 |
| 36 | NEK1 | 1.38631225 |
| 37 | CAMKK2 | 1.35388111 |
| 38 | TAOK2 | 1.28016735 |
| 39 | LRRK2 | 1.27133642 |
| 40 | PBK | 1.25966846 |
| 41 | PTK2 | 1.22023677 |
| 42 | TYK2 | 1.19592558 |
| 43 | PLK2 | 1.19496793 |
| 44 | BMPR1B | 1.15951433 |
| 45 | SIK3 | 1.15939526 |
| 46 | JAK1 | 1.14840568 |
| 47 | WEE1 | 1.12537357 |
| 48 | MYLK | 1.12272026 |
| 49 | MET | 1.11063858 |
| 50 | RIPK1 | 1.10295246 |
| 51 | FER | 1.10100350 |
| 52 | IKBKB | 1.08555616 |
| 53 | PTK6 | 1.08138778 |
| 54 | MOS | 1.07419457 |
| 55 | MAP2K1 | 1.06293723 |
| 56 | MAPKAPK3 | 1.05785903 |
| 57 | PIK3CG | 1.04696240 |
| 58 | MAP2K3 | 1.04443618 |
| 59 | BLK | 1.04103834 |
| 60 | IRAK4 | 1.02517141 |
| 61 | MST1R | 1.01868748 |
| 62 | MAPKAPK5 | 0.99963139 |
| 63 | CDC42BPA | 0.98660680 |
| 64 | PDGFRA | 0.98253024 |
| 65 | GRK5 | 0.98010354 |
| 66 | LATS1 | 0.95206088 |
| 67 | ZAP70 | 0.94960305 |
| 68 | FGFR3 | 0.93317307 |
| 69 | CLK1 | 0.92966662 |
| 70 | KIT | 0.92746442 |
| 71 | IKBKE | 0.91912069 |
| 72 | IRAK3 | 0.90614312 |
| 73 | TGFBR1 | 0.90313843 |
| 74 | FLT3 | 0.90236113 |
| 75 | SCYL2 | 0.89283643 |
| 76 | FGFR4 | 0.88123474 |
| 77 | EPHB2 | 0.88084818 |
| 78 | MAP2K2 | 0.86820056 |
| 79 | ROCK2 | 0.85134463 |
| 80 | GSK3A | 0.84848208 |
| 81 | CHUK | 0.83613887 |
| 82 | MARK3 | 0.82389599 |
| 83 | STK3 | 0.81282429 |
| 84 | BUB1 | 0.79729212 |
| 85 | TRIM28 | 0.79161151 |
| 86 | EPHA2 | 0.79068315 |
| 87 | ABL2 | 0.78288765 |
| 88 | MAP3K1 | 0.77823903 |
| 89 | ADRBK2 | 0.76373569 |
| 90 | CDK6 | 0.74057135 |
| 91 | FGR | 0.73982546 |
| 92 | KDR | 0.71094831 |
| 93 | MELK | 0.70530225 |
| 94 | RPS6KA4 | 0.70304877 |
| 95 | PTK2B | 0.68985058 |
| 96 | MAP3K11 | 0.68753203 |
| 97 | MAPKAPK2 | 0.68695868 |
| 98 | PAK2 | 0.67703483 |
| 99 | PRKCE | 0.66871377 |
| 100 | PAK6 | 0.66149125 |
| 101 | RET | 0.66076371 |
| 102 | BMPR2 | 0.65355296 |
| 103 | BMX | 0.64374346 |
| 104 | PLK3 | 0.62919561 |
| 105 | LMTK2 | 0.62712413 |
| 106 | TEC | 0.61892571 |
| 107 | STK38L | 0.60448863 |
| 108 | IRAK1 | 0.60218071 |
| 109 | STK38 | 0.58440917 |
| 110 | STK10 | 0.58188457 |
| 111 | CAMK1D | 0.58109311 |
| 112 | CSK | 0.57554841 |
| 113 | PAK1 | 0.57258709 |
| 114 | DAPK3 | 0.56946395 |
| 115 | KSR2 | 0.56755157 |
| 116 | STK24 | 0.56434357 |
| 117 | MAP3K8 | 0.55682101 |
| 118 | IGF1R | 0.55506621 |
| 119 | RPS6KA2 | 0.55337767 |
| 120 | TIE1 | 0.55272711 |
| 121 | PAK3 | 0.53033027 |
| 122 | SIK1 | 0.52659711 |
| 123 | JAK2 | 0.51989353 |
| 124 | ROCK1 | 0.51179042 |
| 125 | NLK | 0.51108053 |
| 126 | PRKCD | 0.50451216 |
| 127 | STK16 | 0.49913439 |
| 128 | PRKD3 | 0.49568095 |
| 129 | HIPK2 | 0.49307817 |
| 130 | PDGFRB | 0.49154764 |
| 131 | ILK | 0.48691555 |
| 132 | PRKD2 | 0.47621639 |
| 133 | ADRBK1 | 0.46921533 |
| 134 | ABL1 | 0.37873880 |
| 135 | BRSK1 | 0.34815506 |
| 136 | MUSK | 0.34813992 |
| 137 | FGFR1 | 0.34124195 |
| 138 | BCR | 0.33072146 |
| 139 | INSR | 0.32941666 |
| 140 | DMPK | 0.32905101 |
| 141 | CDK18 | 0.32570566 |
| 142 | EGFR | 0.29930332 |
| 143 | ACVR1B | 0.29893633 |
| 144 | PRKD1 | 0.28461134 |
| 145 | CDK14 | 0.27792135 |
| 146 | EIF2AK2 | 0.27630380 |
| 147 | CAMK2D | 0.27434023 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Lysosome_Homo sapiens_hsa04142 | 2.59775029 |
| 2 | Phagosome_Homo sapiens_hsa04145 | 2.35135644 |
| 3 | Leishmaniasis_Homo sapiens_hsa05140 | 2.33168973 |
| 4 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 2.29618288 |
| 5 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 2.27777030 |
| 6 | ECM-receptor interaction_Homo sapiens_hsa04512 | 2.08733319 |
| 7 | Malaria_Homo sapiens_hsa05144 | 2.05530595 |
| 8 | Protein export_Homo sapiens_hsa03060 | 2.02193419 |
| 9 | Pertussis_Homo sapiens_hsa05133 | 1.85312300 |
| 10 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.84364784 |
| 11 | Legionellosis_Homo sapiens_hsa05134 | 1.81784243 |
| 12 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 1.79152300 |
| 13 | Toll-like receptor signaling pathway_Homo sapiens_hsa04620 | 1.68137242 |
| 14 | Salmonella infection_Homo sapiens_hsa05132 | 1.60651484 |
| 15 | Osteoclast differentiation_Homo sapiens_hsa04380 | 1.59366075 |
| 16 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.57815775 |
| 17 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 1.57397160 |
| 18 | TNF signaling pathway_Homo sapiens_hsa04668 | 1.56930415 |
| 19 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 1.54165904 |
| 20 | Other glycan degradation_Homo sapiens_hsa00511 | 1.54041190 |
| 21 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 1.48717910 |
| 22 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 1.46261788 |
| 23 | Toxoplasmosis_Homo sapiens_hsa05145 | 1.46046426 |
| 24 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 1.45943885 |
| 25 | Tuberculosis_Homo sapiens_hsa05152 | 1.45379994 |
| 26 | Shigellosis_Homo sapiens_hsa05131 | 1.45228611 |
| 27 | Amoebiasis_Homo sapiens_hsa05146 | 1.41020535 |
| 28 | Focal adhesion_Homo sapiens_hsa04510 | 1.39422404 |
| 29 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.36414252 |
| 30 | Apoptosis_Homo sapiens_hsa04210 | 1.30963473 |
| 31 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.30224209 |
| 32 | Steroid biosynthesis_Homo sapiens_hsa00100 | 1.28861747 |
| 33 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.27951971 |
| 34 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.26222187 |
| 35 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.24588856 |
| 36 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.23608272 |
| 37 | Allograft rejection_Homo sapiens_hsa05330 | 1.23465661 |
| 38 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 1.23272476 |
| 39 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 1.20044785 |
| 40 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 1.18919853 |
| 41 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 1.17789602 |
| 42 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 1.15756358 |
| 43 | Chagas disease (American trypanosomiasis)_Homo sapiens_hsa05142 | 1.14690844 |
| 44 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 1.14175908 |
| 45 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.10405141 |
| 46 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 1.09200599 |
| 47 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 1.07389930 |
| 48 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 1.07141271 |
| 49 | Viral myocarditis_Homo sapiens_hsa05416 | 1.07121683 |
| 50 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 1.06679883 |
| 51 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 1.06590689 |
| 52 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 1.04495930 |
| 53 | RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622 | 1.01933868 |
| 54 | Asthma_Homo sapiens_hsa05310 | 1.01863264 |
| 55 | Sulfur metabolism_Homo sapiens_hsa00920 | 1.01697737 |
| 56 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.95852017 |
| 57 | Measles_Homo sapiens_hsa05162 | 0.89291818 |
| 58 | Influenza A_Homo sapiens_hsa05164 | 0.87079542 |
| 59 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.86736275 |
| 60 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.86513491 |
| 61 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.86191495 |
| 62 | Mineral absorption_Homo sapiens_hsa04978 | 0.83805393 |
| 63 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.81991293 |
| 64 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.81883283 |
| 65 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 0.81404125 |
| 66 | Bladder cancer_Homo sapiens_hsa05219 | 0.81246117 |
| 67 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.79008784 |
| 68 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.77601042 |
| 69 | African trypanosomiasis_Homo sapiens_hsa05143 | 0.77469764 |
| 70 | Thyroid cancer_Homo sapiens_hsa05216 | 0.77339893 |
| 71 | Adherens junction_Homo sapiens_hsa04520 | 0.75648822 |
| 72 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.75050743 |
| 73 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.73737321 |
| 74 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.71662688 |
| 75 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 0.71202744 |
| 76 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.70663467 |
| 77 | Chemokine signaling pathway_Homo sapiens_hsa04062 | 0.69593916 |
| 78 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 0.69372521 |
| 79 | Prion diseases_Homo sapiens_hsa05020 | 0.69347913 |
| 80 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.68940750 |
| 81 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.68934565 |
| 82 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.68918636 |
| 83 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.68573104 |
| 84 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 0.67587914 |
| 85 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.66876927 |
| 86 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.66831658 |
| 87 | Platelet activation_Homo sapiens_hsa04611 | 0.66310425 |
| 88 | Melanoma_Homo sapiens_hsa05218 | 0.63979082 |
| 89 | Hepatitis B_Homo sapiens_hsa05161 | 0.63020959 |
| 90 | Hepatitis C_Homo sapiens_hsa05160 | 0.62141841 |
| 91 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.61498765 |
| 92 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.61470362 |
| 93 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.59544306 |
| 94 | Carbon metabolism_Homo sapiens_hsa01200 | 0.59417070 |
| 95 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.58825197 |
| 96 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.58174488 |
| 97 | Endocytosis_Homo sapiens_hsa04144 | 0.58131793 |
| 98 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 0.56603087 |
| 99 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.56526996 |
| 100 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 0.56311897 |
| 101 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.55158705 |
| 102 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.54198753 |
| 103 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.54072028 |
| 104 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.53210116 |
| 105 | Prostate cancer_Homo sapiens_hsa05215 | 0.52895765 |
| 106 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 0.52000483 |
| 107 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.51263228 |
| 108 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.51001463 |
| 109 | Small cell lung cancer_Homo sapiens_hsa05222 | 0.50895405 |
| 110 | Pathways in cancer_Homo sapiens_hsa05200 | 0.50409980 |
| 111 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.49890146 |
| 112 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.48509089 |
| 113 | Galactose metabolism_Homo sapiens_hsa00052 | 0.46813265 |
| 114 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.46518881 |
| 115 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.43576064 |
| 116 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.42264374 |
| 117 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.40289291 |
| 118 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.39896397 |
| 119 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 0.39771187 |
| 120 | Proteasome_Homo sapiens_hsa03050 | 0.39699231 |
| 121 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.38722295 |
| 122 | Insulin resistance_Homo sapiens_hsa04931 | 0.36347345 |
| 123 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.35565496 |
| 124 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.35140445 |
| 125 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.34667888 |
| 126 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.33947107 |

