

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | retina vasculature morphogenesis in camera-type eye (GO:0061299) | 4.12948732 |
| 2 | cellular response to vitamin D (GO:0071305) | 3.78032560 |
| 3 | positive regulation of natural killer cell differentiation (GO:0032825) | 3.61527231 |
| 4 | mesodermal cell differentiation (GO:0048333) | 3.52130426 |
| 5 | cell adhesion mediated by integrin (GO:0033627) | 3.51674366 |
| 6 | COPII vesicle coating (GO:0048208) | 3.46361140 |
| 7 | cellular response to interferon-alpha (GO:0035457) | 3.45781042 |
| 8 | regulation of vitamin D biosynthetic process (GO:0060556) | 3.41252680 |
| 9 | interleukin-6-mediated signaling pathway (GO:0070102) | 3.38092865 |
| 10 | platelet-derived growth factor receptor signaling pathway (GO:0048008) | 3.26264535 |
| 11 | tyrosine phosphorylation of STAT protein (GO:0007260) | 3.22931865 |
| 12 | membrane raft organization (GO:0031579) | 3.20179036 |
| 13 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 3.18122012 |
| 14 | retinal rod cell development (GO:0046548) | 3.16796818 |
| 15 | tolerance induction (GO:0002507) | 3.12846514 |
| 16 | sequestering of extracellular ligand from receptor (GO:0035581) | 3.10340247 |
| 17 | collagen fibril organization (GO:0030199) | 3.09931905 |
| 18 | axon extension involved in axon guidance (GO:0048846) | 3.08487388 |
| 19 | neuron projection extension involved in neuron projection guidance (GO:1902284) | 3.08487388 |
| 20 | regulation of transforming growth factor beta1 production (GO:0032908) | 3.02568165 |
| 21 | regulation of branching involved in salivary gland morphogenesis (GO:0060693) | 3.01705802 |
| 22 | positive regulation of interleukin-2 biosynthetic process (GO:0045086) | 2.98760551 |
| 23 | mesenchymal-epithelial cell signaling (GO:0060638) | 2.97303141 |
| 24 | negative regulation of chondrocyte differentiation (GO:0032331) | 2.95706024 |
| 25 | * regulation of transforming growth factor beta2 production (GO:0032909) | 2.93619187 |
| 26 | Notch signaling involved in heart development (GO:0061314) | 2.90229947 |
| 27 | growth hormone receptor signaling pathway (GO:0060396) | 2.89209091 |
| 28 | negative T cell selection (GO:0043383) | 2.88738805 |
| 29 | lung lobe morphogenesis (GO:0060463) | 2.87776546 |
| 30 | smooth muscle tissue development (GO:0048745) | 2.86363675 |
| 31 | UDP-N-acetylglucosamine metabolic process (GO:0006047) | 2.78836459 |
| 32 | negative thymic T cell selection (GO:0045060) | 2.78688231 |
| 33 | JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397) | 2.78252448 |
| 34 | sprouting angiogenesis (GO:0002040) | 2.77278786 |
| 35 | regulation of vitamin metabolic process (GO:0030656) | 2.76708633 |
| 36 | regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547) | 2.75311375 |
| 37 | endodermal cell differentiation (GO:0035987) | 2.73565188 |
| 38 | membrane protein ectodomain proteolysis (GO:0006509) | 2.71851132 |
| 39 | antigen processing and presentation of endogenous peptide antigen (GO:0002483) | 2.70897017 |
| 40 | antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885) | 2.70897017 |
| 41 | positive regulation of astrocyte differentiation (GO:0048711) | 2.69677499 |
| 42 | response to lipoprotein particle (GO:0055094) | 2.69379982 |
| 43 | dichotomous subdivision of an epithelial terminal unit (GO:0060600) | 2.67655375 |
| 44 | substrate adhesion-dependent cell spreading (GO:0034446) | 2.66255692 |
| 45 | wound healing, spreading of epidermal cells (GO:0035313) | 2.66118130 |
| 46 | positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511) | 2.65195586 |
| 47 | regulation of membrane protein ectodomain proteolysis (GO:0051043) | 2.64993648 |
| 48 | positive regulation of membrane protein ectodomain proteolysis (GO:0051044) | 2.64561221 |
| 49 | positive regulation of osteoblast proliferation (GO:0033690) | 2.64249853 |
| 50 | negative regulation of epidermal growth factor-activated receptor activity (GO:0007175) | 2.64091134 |
| 51 | NLS-bearing protein import into nucleus (GO:0006607) | 2.64042336 |
| 52 | hypotonic response (GO:0006971) | 2.63308126 |
| 53 | positive regulation of gamma-delta T cell activation (GO:0046645) | 2.62367878 |
| 54 | chronic inflammatory response (GO:0002544) | 2.62180991 |
| 55 | glomerular visceral epithelial cell development (GO:0072015) | 2.60734587 |
| 56 | negative regulation of anoikis (GO:2000811) | 2.59844237 |
| 57 | regulation of T cell tolerance induction (GO:0002664) | 2.59329345 |
| 58 | * positive regulation vascular endothelial growth factor production (GO:0010575) | 2.59075954 |
| 59 | regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307) | 2.59025995 |
| 60 | glycoprotein catabolic process (GO:0006516) | 2.58222059 |
| 61 | regulation of interleukin-12 biosynthetic process (GO:0045075) | 2.57407358 |
| 62 | ganglion development (GO:0061548) | 2.56787944 |
| 63 | hippo signaling (GO:0035329) | 2.56437716 |
| 64 | detection of light stimulus involved in visual perception (GO:0050908) | 2.55474296 |
| 65 | detection of light stimulus involved in sensory perception (GO:0050962) | 2.55474296 |
| 66 | positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241) | 2.55124530 |
| 67 | desmosome organization (GO:0002934) | 2.54678981 |
| 68 | positive regulation of syncytium formation by plasma membrane fusion (GO:0060143) | 2.53054560 |
| 69 | cell-substrate junction assembly (GO:0007044) | 2.52224069 |
| 70 | regulation of nephron tubule epithelial cell differentiation (GO:0072182) | 2.51117675 |
| 71 | pinocytosis (GO:0006907) | 2.50767924 |
| 72 | wound healing, spreading of cells (GO:0044319) | 2.50541323 |
| 73 | substrate-dependent cell migration (GO:0006929) | 2.48703687 |
| 74 | mammary gland epithelial cell proliferation (GO:0033598) | 2.47895446 |
| 75 | sodium ion export (GO:0071436) | 2.47743655 |
| 76 | extracellular matrix disassembly (GO:0022617) | 2.47537238 |
| 77 | negative regulation of smooth muscle cell migration (GO:0014912) | 2.47458846 |
| 78 | chondroitin sulfate biosynthetic process (GO:0030206) | 2.47292828 |
| 79 | nuclear pore complex assembly (GO:0051292) | 2.47163153 |
| 80 | apoptotic cell clearance (GO:0043277) | 2.45063022 |
| 81 | negative regulation of axon extension involved in axon guidance (GO:0048843) | 2.45041496 |
| 82 | protein localization to cell surface (GO:0034394) | 2.44979379 |
| 83 | cellular response to growth hormone stimulus (GO:0071378) | 2.44619081 |
| 84 | endothelial cell morphogenesis (GO:0001886) | 2.44055456 |
| 85 | hemidesmosome assembly (GO:0031581) | 2.43356097 |
| 86 | cortical actin cytoskeleton organization (GO:0030866) | 2.42874205 |
| 87 | antigen processing and presentation of endogenous antigen (GO:0019883) | 2.41425784 |
| 88 | protein localization to endosome (GO:0036010) | 2.40949677 |
| 89 | response to interleukin-15 (GO:0070672) | 2.40038319 |
| 90 | response to laminar fluid shear stress (GO:0034616) | 2.39200944 |
| 91 | cell migration involved in sprouting angiogenesis (GO:0002042) | 2.38642555 |
| 92 | wound healing (GO:0042060) | 2.38561069 |
| 93 | vesicle coating (GO:0006901) | 2.38109429 |
| 94 | positive regulation of chemokine biosynthetic process (GO:0045080) | 2.37054384 |
| 95 | negative regulation of fatty acid transport (GO:2000192) | 2.36955871 |
| 96 | heparan sulfate proteoglycan biosynthetic process (GO:0015012) | 2.36785472 |
| 97 | hepatocyte apoptotic process (GO:0097284) | 2.36479022 |
| 98 | endothelial tube morphogenesis (GO:0061154) | 2.36418199 |
| 99 | morphogenesis of an endothelium (GO:0003159) | 2.36418199 |
| 100 | positive regulation of endothelial cell apoptotic process (GO:2000353) | 2.36304880 |
| 101 | blood vessel endothelial cell migration (GO:0043534) | 2.35830156 |
| 102 | regulation of metalloenzyme activity (GO:0048552) | 2.35545459 |
| 103 | protein heterotrimerization (GO:0070208) | 2.34641842 |
| 104 | retinal cone cell development (GO:0046549) | 2.33921148 |
| 105 | myelin assembly (GO:0032288) | 2.33753733 |
| 106 | negative regulation of nitric oxide biosynthetic process (GO:0045019) | 2.31952348 |
| 107 | type B pancreatic cell proliferation (GO:0044342) | 2.31861994 |
| 108 | epithelial cell-cell adhesion (GO:0090136) | 2.31481096 |
| 109 | response to host (GO:0075136) | 2.31292284 |
| 110 | response to host defenses (GO:0052200) | 2.31292284 |
| 111 | response to defenses of other organism involved in symbiotic interaction (GO:0052173) | 2.31292284 |
| 112 | corticosteroid receptor signaling pathway (GO:0031958) | 2.30667519 |
| 113 | regulation of integrin-mediated signaling pathway (GO:2001044) | 2.30345033 |
| 114 | endothelial cell proliferation (GO:0001935) | 2.30181253 |
| 115 | cellular response to follicle-stimulating hormone stimulus (GO:0071372) | 2.30001117 |
| 116 | keratan sulfate catabolic process (GO:0042340) | 2.29504349 |
| 117 | chondrocyte proliferation (GO:0035988) | 2.29284848 |
| 118 | * regulation of transforming growth factor beta production (GO:0071634) | 2.29022954 |
| 119 | maintenance of protein localization in endoplasmic reticulum (GO:0035437) | 2.28696476 |
| 120 | * multicellular organismal macromolecule metabolic process (GO:0044259) | 2.28650140 |
| 121 | stress fiber assembly (GO:0043149) | 2.27271790 |
| 122 | positive regulation of p38MAPK cascade (GO:1900745) | 2.26585716 |
| 123 | regulation of interleukin-2 biosynthetic process (GO:0045076) | 2.26484954 |
| 124 | pericardium development (GO:0060039) | 2.25802178 |
| 125 | embryonic process involved in female pregnancy (GO:0060136) | 2.25745941 |
| 126 | positive regulation of epithelial to mesenchymal transition (GO:0010718) | 2.25681974 |
| 127 | germ cell migration (GO:0008354) | 2.25634221 |
| 128 | epithelial cell fate commitment (GO:0072148) | 2.25202346 |
| 129 | Golgi transport vesicle coating (GO:0048200) | 2.25126824 |
| 130 | COPI coating of Golgi vesicle (GO:0048205) | 2.25126824 |
| 131 | skin morphogenesis (GO:0043589) | 2.25076116 |
| 132 | positive thymic T cell selection (GO:0045059) | 2.24423749 |
| 133 | cytoplasmic mRNA processing body assembly (GO:0033962) | 2.24342057 |
| 134 | positive regulation of tolerance induction (GO:0002645) | 2.24177102 |
| 135 | regulation of epithelial cell differentiation involved in kidney development (GO:2000696) | 2.23804653 |
| 136 | vascular endothelial growth factor signaling pathway (GO:0038084) | 2.22730093 |
| 137 | * regulation of vascular endothelial growth factor production (GO:0010574) | 2.22720635 |
| 138 | thymic T cell selection (GO:0045061) | 2.22533845 |
| 139 | leukocyte aggregation (GO:0070486) | 2.22340675 |
| 140 | negative regulation of cell killing (GO:0031342) | 2.18296113 |
| 141 | negative regulation of leukocyte mediated cytotoxicity (GO:0001911) | 2.18296113 |
| 142 | positive regulation of natural killer cell mediated immunity (GO:0002717) | 2.17690693 |
| 143 | positive regulation of natural killer cell mediated cytotoxicity (GO:0045954) | 2.17690693 |
| 144 | epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198) | 2.16586379 |
| 145 | positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr | 2.16463272 |
| 146 | collagen catabolic process (GO:0030574) | 2.16148156 |
| 147 | photoreceptor cell development (GO:0042461) | 2.15930852 |
| 148 | modulation by organism of defense response of other organism involved in symbiotic interaction (GO:0 | 2.13914995 |
| 149 | positive regulation by organism of defense response of other organism involved in symbiotic interact | 2.13914995 |
| 150 | modulation by symbiont of host immune response (GO:0052553) | 2.13914995 |
| 151 | positive regulation by symbiont of host defense response (GO:0052509) | 2.13914995 |
| 152 | modulation by symbiont of host defense response (GO:0052031) | 2.13914995 |
| 153 | modulation by organism of immune response of other organism involved in symbiotic interaction (GO:00 | 2.13914995 |
| 154 | * collagen metabolic process (GO:0032963) | 2.12405053 |
| 155 | decidualization (GO:0046697) | 2.11402254 |
| 156 | chondrocyte development (GO:0002063) | 2.11358046 |
| 157 | regulation of natural killer cell differentiation (GO:0032823) | 2.10415246 |
| 158 | positive regulation of tumor necrosis factor biosynthetic process (GO:0042535) | 2.10300816 |
| 159 | cortical cytoskeleton organization (GO:0030865) | 2.09150813 |
| 160 | fibroblast migration (GO:0010761) | 2.08889118 |
| 161 | positive regulation of blood vessel endothelial cell migration (GO:0043536) | 2.08665192 |
| 162 | regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition | 2.08663676 |
| 163 | nuclear pore organization (GO:0006999) | 2.07855828 |
| 164 | T cell selection (GO:0045058) | 2.07567583 |
| 165 | cellular response to vitamin (GO:0071295) | 2.07527081 |
| 166 | eye photoreceptor cell development (GO:0042462) | 2.07293968 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | * FOXP3_17237761_ChIP-ChIP_TREG_Mouse | 6.00093313 |
| 2 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 5.37106832 |
| 3 | * NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 5.00238747 |
| 4 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 4.02343076 |
| 5 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 3.73151616 |
| 6 | STAT6_20620947_ChIP-Seq_CD4_POS_T_Human | 3.58337388 |
| 7 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 2.72487146 |
| 8 | STAT3_20064451_ChIP-Seq_CD4+T_Mouse | 2.65956303 |
| 9 | STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse | 2.63604018 |
| 10 | CLOCK_20551151_ChIP-Seq_293T_Human | 2.62755498 |
| 11 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 2.41186748 |
| 12 | SMAD_19615063_ChIP-ChIP_OVARY_Human | 2.34091431 |
| 13 | GATA2_21666600_ChIP-Seq_HMVEC_Human | 2.34045283 |
| 14 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 2.15971182 |
| 15 | RUNX_20019798_ChIP-Seq_JUKART_Human | 2.11430049 |
| 16 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 2.07316866 |
| 17 | SALL4_18804426_ChIP-ChIP_XEN_Mouse | 2.01215105 |
| 18 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.98494937 |
| 19 | * RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human | 1.92767539 |
| 20 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 1.91891107 |
| 21 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 1.83714667 |
| 22 | ZIC3_20872845_ChIP-ChIP_MESCs_Mouse | 1.82780916 |
| 23 | JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.72016312 |
| 24 | CJUN_26792858_Chip-Seq_BT549_Human | 1.70708989 |
| 25 | * CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse | 1.67163054 |
| 26 | FOXO3_23340844_ChIP-Seq_DLD1_Human | 1.62698896 |
| 27 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 1.60649596 |
| 28 | RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 1.58078839 |
| 29 | * TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.57778004 |
| 30 | * NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse | 1.57753742 |
| 31 | SMAD3_18955504_ChIP-ChIP_HaCaT_Human | 1.57589829 |
| 32 | SMAD2_18955504_ChIP-ChIP_HaCaT_Human | 1.57589829 |
| 33 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.57551005 |
| 34 | WT1_19549856_ChIP-ChIP_CCG9911_Human | 1.57348047 |
| 35 | KDM2B_26808549_Chip-Seq_DND41_Human | 1.57073954 |
| 36 | MYC_22102868_ChIP-Seq_BL_Human | 1.55836688 |
| 37 | * ESR1_22446102_ChIP-Seq_UTERUS_Mouse | 1.55253905 |
| 38 | * BRD4_25478319_ChIP-Seq_HGPS_Human | 1.54194602 |
| 39 | ATF3_23680149_ChIP-Seq_GBM1-GSC_Human | 1.52754983 |
| 40 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 1.52305235 |
| 41 | * KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.51209206 |
| 42 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.51069628 |
| 43 | EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse | 1.48749805 |
| 44 | WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 1.44475299 |
| 45 | * UBF1/2_26484160_Chip-Seq_HMECs_Human | 1.42852534 |
| 46 | * TCF3_18467660_ChIP-ChIP_MESCs_Mouse | 1.42214744 |
| 47 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 1.41686747 |
| 48 | KDM2B_26808549_Chip-Seq_JURKAT_Human | 1.41498196 |
| 49 | SOX2_20726797_ChIP-Seq_SW620_Human | 1.41330299 |
| 50 | KDM2B_26808549_Chip-Seq_HPB-ALL_Human | 1.41094356 |
| 51 | KDM2B_26808549_Chip-Seq_SUP-B15_Human | 1.39728333 |
| 52 | * CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 1.38818131 |
| 53 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 1.37260185 |
| 54 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.35992103 |
| 55 | FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse | 1.34566522 |
| 56 | IRF1_21803131_ChIP-Seq_MONOCYTES_Human | 1.34355656 |
| 57 | MYB_26560356_Chip-Seq_TH2_Human | 1.33062510 |
| 58 | * STAT4_19710469_ChIP-ChIP_TH1__Mouse | 1.31371861 |
| 59 | * TP63_23658742_ChIP-Seq_EP156T_Human | 1.30635954 |
| 60 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.30371954 |
| 61 | * AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.30251187 |
| 62 | SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse | 1.30244923 |
| 63 | * ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.28793273 |
| 64 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.28361748 |
| 65 | NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 1.28305621 |
| 66 | KDM2B_26808549_Chip-Seq_SIL-ALL_Human | 1.28294940 |
| 67 | TCF7_22412390_ChIP-Seq_EML_Mouse | 1.28074259 |
| 68 | * Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse | 1.27768671 |
| 69 | PPAR_26484153_Chip-Seq_NCI-H1993_Human | 1.26650751 |
| 70 | * DMRT1_23473982_ChIP-Seq_TESTES_Mouse | 1.26376076 |
| 71 | * P300_27058665_Chip-Seq_ZR-75-30cells_Human | 1.24422783 |
| 72 | * IRF8_27001747_Chip-Seq_BMDM_Mouse | 1.24326205 |
| 73 | FOXM1_26456572_ChIP-Seq_MCF-7_Human | 1.24321131 |
| 74 | FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.22089792 |
| 75 | * MAF_26560356_Chip-Seq_TH1_Human | 1.21863004 |
| 76 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.21326665 |
| 77 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.21069411 |
| 78 | * EP300_21415370_ChIP-Seq_HL-1_Mouse | 1.20368979 |
| 79 | HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse | 1.20119302 |
| 80 | TP53_16413492_ChIP-PET_HCT116_Human | 1.18825578 |
| 81 | * SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 1.17954037 |
| 82 | SALL4_18804426_ChIP-ChIP_MESCs_Mouse | 1.17023724 |
| 83 | VDR_24787735_ChIP-Seq_THP-1_Human | 1.14851130 |
| 84 | PRDM5_23873026_ChIP-Seq_MEFs_Mouse | 1.14587754 |
| 85 | ELK3_25401928_ChIP-Seq_HUVEC_Human | 1.14483176 |
| 86 | EOMES_20176728_ChIP-ChIP_TSCs_Mouse | 1.12886806 |
| 87 | UTX_26944678_Chip-Seq_JUKART_Human | 1.11194033 |
| 88 | FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human | 1.10560894 |
| 89 | PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 1.10350461 |
| 90 | ASXL1_24218140_ChIP-Seq_BMDM_Mouse | 1.09677725 |
| 91 | MYB_21317192_ChIP-Seq_ERMYB_Mouse | 1.08295500 |
| 92 | ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.07991359 |
| 93 | IRF8_21731497_ChIP-ChIP_J774_Mouse | 1.07812993 |
| 94 | NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human | 1.07754344 |
| 95 | JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.05790407 |
| 96 | VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human | 1.05720699 |
| 97 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 1.05369610 |
| 98 | * SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.03976305 |
| 99 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.03061937 |
| 100 | ATF3_27146783_Chip-Seq_COLON_Human | 1.02904795 |
| 101 | BRD4_27068464_Chip-Seq_AML-cells_Mouse | 1.02287016 |
| 102 | OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.00846797 |
| 103 | FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human | 0.99602794 |
| 104 | * POU3F2_20337985_ChIP-ChIP_501MEL_Human | 0.99413053 |
| 105 | ZFP281_27345836_Chip-Seq_ESCs_Mouse | 0.99298338 |
| 106 | MECOM_23826213_ChIP-Seq_KASUMI_Mouse | 0.98114516 |
| 107 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 0.98061447 |
| 108 | * FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.97136681 |
| 109 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 0.97125497 |
| 110 | * SOX9_24532713_ChIP-Seq_HFSC_Mouse | 0.96740388 |
| 111 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 0.96300436 |
| 112 | MYB_26560356_Chip-Seq_TH1_Human | 0.94312567 |
| 113 | KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.93789882 |
| 114 | * BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human | 0.93743989 |
| 115 | CTNNB1_20460455_ChIP-Seq_HCT116_Human | 0.92708536 |
| 116 | * KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 0.92564531 |
| 117 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 0.92014664 |
| 118 | * PPARG_20887899_ChIP-Seq_3T3-L1_Mouse | 0.90362637 |
| 119 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 0.90030064 |
| 120 | ISL1_27105846_Chip-Seq_CPCs_Mouse | 0.89321102 |
| 121 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 0.89242011 |
| 122 | GATA3_27048872_Chip-Seq_THYMUS_Human | 0.88940984 |
| 123 | RUNX1_17652178_ChIP-ChIP_JURKAT_Human | 0.88329365 |
| 124 | * PU_27001747_Chip-Seq_BMDM_Mouse | 0.87547966 |
| 125 | KDM2B_26808549_Chip-Seq_K562_Human | 0.87477975 |
| 126 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 0.87141956 |
| 127 | PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse | 0.87060844 |
| 128 | * ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 0.86996491 |
| 129 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 0.86939376 |
| 130 | * TRIM28_17542650_ChIP-ChIP_NTERA2_Human | 0.86799051 |
| 131 | NRF2_20460467_ChIP-Seq_MEFs_Mouse | 0.86543327 |
| 132 | NFE2L2_20460467_ChIP-Seq_MEFs_Mouse | 0.86543327 |
| 133 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 0.86447738 |
| 134 | CDX2_22108803_ChIP-Seq_LS180_Human | 0.85456003 |
| 135 | NKX2-5_21415370_ChIP-Seq_HL-1_Mouse | 0.85412088 |
| 136 | TBX20_22328084_ChIP-Seq_HEART_Mouse | 0.85240212 |
| 137 | TBX20_22080862_ChIP-Seq_HEART_Mouse | 0.85240212 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0008438_abnormal_cutaneous_collagen | 4.09551119 |
| 2 | MP0003705_abnormal_hypodermis_morpholog | 3.54056411 |
| 3 | MP0003300_gastrointestinal_ulcer | 2.94519544 |
| 4 | MP0010352_gastrointestinal_tract_polyps | 2.94203606 |
| 5 | MP0005076_abnormal_cell_differentiation | 2.54990739 |
| 6 | MP0005275_abnormal_skin_tensile | 2.51229585 |
| 7 | MP0008004_abnormal_stomach_pH | 2.39597776 |
| 8 | MP0005503_abnormal_tendon_morphology | 2.27236517 |
| 9 | MP0003303_peritoneal_inflammation | 2.20574018 |
| 10 | MP0002933_joint_inflammation | 2.19661531 |
| 11 | MP0003279_aneurysm | 2.15584807 |
| 12 | MP0010234_abnormal_vibrissa_follicle | 2.11698713 |
| 13 | MP0005551_abnormal_eye_electrophysiolog | 1.99898012 |
| 14 | MP0003091_abnormal_cell_migration | 1.96711272 |
| 15 | MP0006072_abnormal_retinal_apoptosis | 1.91464472 |
| 16 | MP0009384_cardiac_valve_regurgitation | 1.90098586 |
| 17 | MP0005623_abnormal_meninges_morphology | 1.89729120 |
| 18 | MP0003566_abnormal_cell_adhesion | 1.85593838 |
| 19 | MP0003011_delayed_dark_adaptation | 1.80904084 |
| 20 | MP0006054_spinal_hemorrhage | 1.80403420 |
| 21 | * MP0005023_abnormal_wound_healing | 1.78928792 |
| 22 | MP0000569_abnormal_digit_pigmentation | 1.71939929 |
| 23 | MP0000733_abnormal_muscle_development | 1.70239268 |
| 24 | MP0003828_pulmonary_edema | 1.68233709 |
| 25 | * MP0003436_decreased_susceptibility_to | 1.58584822 |
| 26 | MP0005164_abnormal_response_to | 1.57715677 |
| 27 | MP0002090_abnormal_vision | 1.57431306 |
| 28 | MP0004272_abnormal_basement_membrane | 1.56117050 |
| 29 | MP0005253_abnormal_eye_physiology | 1.55177449 |
| 30 | MP0005248_abnormal_Harderian_gland | 1.55042304 |
| 31 | MP0003941_abnormal_skin_development | 1.49475993 |
| 32 | MP0003191_abnormal_cellular_cholesterol | 1.48401032 |
| 33 | MP0001542_abnormal_bone_strength | 1.47852352 |
| 34 | MP0001958_emphysema | 1.45615869 |
| 35 | MP0010030_abnormal_orbit_morphology | 1.44177506 |
| 36 | MP0005257_abnormal_intraocular_pressure | 1.41749647 |
| 37 | MP0004947_skin_inflammation | 1.41688017 |
| 38 | * MP0001533_abnormal_skeleton_physiology | 1.40557470 |
| 39 | MP0005508_abnormal_skeleton_morphology | 1.38765452 |
| 40 | MP0003763_abnormal_thymus_physiology | 1.38095596 |
| 41 | MP0003453_abnormal_keratinocyte_physiol | 1.35550369 |
| 42 | MP0002166_altered_tumor_susceptibility | 1.34322495 |
| 43 | MP0010678_abnormal_skin_adnexa | 1.34221149 |
| 44 | MP0000685_abnormal_immune_system | 1.32849091 |
| 45 | MP0003045_fibrosis | 1.32457033 |
| 46 | MP0003950_abnormal_plasma_membrane | 1.32236783 |
| 47 | * MP0005390_skeleton_phenotype | 1.29347416 |
| 48 | MP0001243_abnormal_dermal_layer | 1.28949535 |
| 49 | MP0005671_abnormal_response_to | 1.27442064 |
| 50 | * MP0003448_altered_tumor_morphology | 1.25792720 |
| 51 | MP0002998_abnormal_bone_remodeling | 1.24456678 |
| 52 | MP0002877_abnormal_melanocyte_morpholog | 1.24309726 |
| 53 | MP0001299_abnormal_eye_distance/ | 1.24275701 |
| 54 | MP0001853_heart_inflammation | 1.23870450 |
| 55 | MP0000383_abnormal_hair_follicle | 1.22428134 |
| 56 | MP0001790_abnormal_immune_system | 1.18530823 |
| 57 | MP0005387_immune_system_phenotype | 1.18530823 |
| 58 | MP0002168_other_aberrant_phenotype | 1.18341904 |
| 59 | MP0000537_abnormal_urethra_morphology | 1.16690098 |
| 60 | MP0002295_abnormal_pulmonary_circulatio | 1.16678266 |
| 61 | MP0002006_tumorigenesis | 1.16487181 |
| 62 | MP0009840_abnormal_foam_cell | 1.16115400 |
| 63 | MP0000428_abnormal_craniofacial_morphol | 1.15794955 |
| 64 | MP0001346_abnormal_lacrimal_gland | 1.13797112 |
| 65 | MP0002896_abnormal_bone_mineralization | 1.13407853 |
| 66 | MP0002060_abnormal_skin_morphology | 1.12791125 |
| 67 | MP0002405_respiratory_system_inflammati | 1.11326193 |
| 68 | * MP0005000_abnormal_immune_tolerance | 1.10109019 |
| 69 | MP0009053_abnormal_anal_canal | 1.09459757 |
| 70 | MP0001835_abnormal_antigen_presentation | 1.09445784 |
| 71 | MP0010307_abnormal_tumor_latency | 1.07755979 |
| 72 | MP0005197_abnormal_uvea_morphology | 1.07050086 |
| 73 | MP0005195_abnormal_posterior_eye | 1.05094644 |
| 74 | MP0001324_abnormal_eye_pigmentation | 1.04108237 |
| 75 | MP0002697_abnormal_eye_size | 1.02743101 |
| 76 | MP0005391_vision/eye_phenotype | 1.02247956 |
| 77 | MP0000767_abnormal_smooth_muscle | 1.00852879 |
| 78 | MP0001849_ear_inflammation | 1.00314019 |
| 79 | MP0001800_abnormal_humoral_immune | 0.99822188 |
| 80 | MP0009785_altered_susceptibility_to | 0.99542638 |
| 81 | MP0004883_abnormal_blood_vessel | 0.99152217 |
| 82 | MP0001851_eye_inflammation | 0.99031079 |
| 83 | MP0009278_abnormal_bone_marrow | 0.98875513 |
| 84 | * MP0010155_abnormal_intestine_physiology | 0.98524336 |
| 85 | MP0001216_abnormal_epidermal_layer | 0.96623242 |
| 86 | MP0003795_abnormal_bone_structure | 0.95606150 |
| 87 | * MP0002452_abnormal_antigen_presenting | 0.94900090 |
| 88 | * MP0005595_abnormal_vascular_smooth | 0.94487590 |
| 89 | MP0004233_abnormal_muscle_weight | 0.94092914 |
| 90 | MP0001915_intracranial_hemorrhage | 0.93369284 |
| 91 | MP0004510_myositis | 0.92174640 |
| 92 | MP0004808_abnormal_hematopoietic_stem | 0.91805561 |
| 93 | MP0002254_reproductive_system_inflammat | 0.91647900 |
| 94 | MP0006082_CNS_inflammation | 0.91182049 |
| 95 | * MP0002113_abnormal_skeleton_development | 0.91072529 |
| 96 | MP0010368_abnormal_lymphatic_system | 0.88956974 |
| 97 | MP0003385_abnormal_body_wall | 0.88711314 |
| 98 | * MP0005165_increased_susceptibility_to | 0.88432043 |
| 99 | MP0009780_abnormal_chondrocyte_physiolo | 0.88008012 |
| 100 | * MP0002925_abnormal_cardiovascular_devel | 0.87566045 |
| 101 | MP0002234_abnormal_pharynx_morphology | 0.87247309 |
| 102 | MP0005621_abnormal_cell_physiology | 0.86746435 |
| 103 | MP0010386_abnormal_urinary_bladder | 0.86515396 |
| 104 | MP0001873_stomach_inflammation | 0.86099225 |
| 105 | MP0003115_abnormal_respiratory_system | 0.85705036 |
| 106 | MP0000858_altered_metastatic_potential | 0.85343707 |
| 107 | MP0001879_abnormal_lymphatic_vessel | 0.83643316 |
| 108 | MP0005058_abnormal_lysosome_morphology | 0.83380096 |
| 109 | MP0009333_abnormal_splenocyte_physiolog | 0.83233246 |
| 110 | MP0002148_abnormal_hypersensitivity_rea | 0.82727534 |
| 111 | MP0000343_altered_response_to | 0.82638906 |
| 112 | * MP0002282_abnormal_trachea_morphology | 0.82546056 |
| 113 | * MP0002115_abnormal_skeleton_extremities | 0.79503444 |
| 114 | MP0003724_increased_susceptibility_to | 0.78964064 |
| 115 | MP0002089_abnormal_postnatal_growth/wei | 0.78476740 |
| 116 | MP0004197_abnormal_fetal_growth/weight/ | 0.77091043 |
| 117 | MP0001191_abnormal_skin_condition | 0.77020630 |
| 118 | MP0009250_abnormal_appendicular_skeleto | 0.76830418 |
| 119 | MP0000013_abnormal_adipose_tissue | 0.76543626 |
| 120 | * MP0001614_abnormal_blood_vessel | 0.75709545 |
| 121 | * MP0000163_abnormal_cartilage_morphology | 0.74855032 |
| 122 | * MP0002723_abnormal_immune_serum | 0.74707801 |
| 123 | * MP0000627_abnormal_mammary_gland | 0.71476629 |
| 124 | MP0009697_abnormal_copulation | 0.70984029 |
| 125 | MP0000762_abnormal_tongue_morphology | 0.68707213 |
| 126 | * MP0002128_abnormal_blood_circulation | 0.67373470 |
| 127 | MP0000432_abnormal_head_morphology | 0.66571931 |
| 128 | MP0000465_gastrointestinal_hemorrhage | 0.66047513 |
| 129 | * MP0001175_abnormal_lung_morphology | 0.65742329 |
| 130 | * MP0000249_abnormal_blood_vessel | 0.64186706 |
| 131 | MP0005167_abnormal_blood-brain_barrier | 0.63361713 |
| 132 | MP0003221_abnormal_cardiomyocyte_apopto | 0.63099410 |
| 133 | * MP0005193_abnormal_anterior_eye | 0.61513078 |
| 134 | * MP0002133_abnormal_respiratory_system | 0.60617644 |
| 135 | * MP0005388_respiratory_system_phenotype | 0.60617644 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Congenital stationary night blindness (HP:0007642) | 5.68012679 |
| 2 | Protrusio acetabuli (HP:0003179) | 4.10163797 |
| 3 | Premature rupture of membranes (HP:0001788) | 3.63514371 |
| 4 | Central scotoma (HP:0000603) | 3.53346488 |
| 5 | Aortic aneurysm (HP:0004942) | 3.48701958 |
| 6 | Vitreoretinal degeneration (HP:0000655) | 3.47713646 |
| 7 | Aortic dissection (HP:0002647) | 3.43685002 |
| 8 | Chorioretinal atrophy (HP:0000533) | 3.31621349 |
| 9 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.23994016 |
| 10 | Arterial tortuosity (HP:0005116) | 3.06973357 |
| 11 | Scotoma (HP:0000575) | 3.00640129 |
| 12 | Cervical subluxation (HP:0003308) | 2.96547393 |
| 13 | Vascular tortuosity (HP:0004948) | 2.88674613 |
| 14 | Cerebral aneurysm (HP:0004944) | 2.86059176 |
| 15 | Persistence of primary teeth (HP:0006335) | 2.83924741 |
| 16 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.81697341 |
| 17 | Dilatation of the ascending aorta (HP:0005111) | 2.81324876 |
| 18 | Atrophic scars (HP:0001075) | 2.80994473 |
| 19 | Relative macrocephaly (HP:0004482) | 2.78843009 |
| 20 | Shallow orbits (HP:0000586) | 2.72006851 |
| 21 | Large earlobe (HP:0009748) | 2.70567783 |
| 22 | Aplasia/Hypoplasia of the frontal sinuses (HP:0009119) | 2.70550786 |
| 23 | Subacute progressive viral hepatitis (HP:0006572) | 2.69808711 |
| 24 | Increased density of long bones (HP:0006392) | 2.69806266 |
| 25 | Peritonitis (HP:0002586) | 2.68576651 |
| 26 | Abnormality of macular pigmentation (HP:0008002) | 2.68490457 |
| 27 | Short nail (HP:0001799) | 2.65911016 |
| 28 | Abnormality of dentin (HP:0010299) | 2.65081147 |
| 29 | Mitral valve prolapse (HP:0001634) | 2.63745996 |
| 30 | Mitral stenosis (HP:0001718) | 2.63312645 |
| 31 | Pigmentary retinal degeneration (HP:0001146) | 2.62757520 |
| 32 | Tetraparesis (HP:0002273) | 2.58964897 |
| 33 | Vertebral compression fractures (HP:0002953) | 2.58881128 |
| 34 | Ankle contracture (HP:0006466) | 2.40967699 |
| 35 | Epiphyseal dysplasia (HP:0002656) | 2.39959139 |
| 36 | Increased corneal curvature (HP:0100692) | 2.38187726 |
| 37 | Keratoconus (HP:0000563) | 2.38187726 |
| 38 | Myocardial infarction (HP:0001658) | 2.37186933 |
| 39 | Pendular nystagmus (HP:0012043) | 2.35978678 |
| 40 | Soft skin (HP:0000977) | 2.33242441 |
| 41 | Hypoplastic ischia (HP:0003175) | 2.28329606 |
| 42 | Aplasia/Hypoplasia involving the sinuses (HP:0009120) | 2.24727673 |
| 43 | Abolished electroretinogram (ERG) (HP:0000550) | 2.24084999 |
| 44 | Genu recurvatum (HP:0002816) | 2.22499283 |
| 45 | Bladder diverticulum (HP:0000015) | 2.20703922 |
| 46 | Delayed closure of the anterior fontanelle (HP:0001476) | 2.19422087 |
| 47 | Aneurysm (HP:0002617) | 2.14100638 |
| 48 | Posterior subcapsular cataract (HP:0007787) | 2.12460017 |
| 49 | Eczematoid dermatitis (HP:0000976) | 2.11923516 |
| 50 | Severe visual impairment (HP:0001141) | 2.06753292 |
| 51 | Cone-rod dystrophy (HP:0000548) | 2.05448724 |
| 52 | Aortic regurgitation (HP:0001659) | 2.04782703 |
| 53 | Absent frontal sinuses (HP:0002688) | 2.04677310 |
| 54 | Rhizomelia (HP:0008905) | 2.04614542 |
| 55 | Pulmonic stenosis (HP:0001642) | 2.02623097 |
| 56 | Spinal rigidity (HP:0003306) | 2.02162238 |
| 57 | Abnormality of the ischium (HP:0003174) | 2.01346549 |
| 58 | Neonatal short-limb short stature (HP:0008921) | 2.00469029 |
| 59 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 1.99916786 |
| 60 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 1.99468757 |
| 61 | Abnormality of skull ossification (HP:0002703) | 1.96431871 |
| 62 | Spondylolisthesis (HP:0003302) | 1.95833261 |
| 63 | Abnormality of the distal phalanges of the toes (HP:0010182) | 1.95631704 |
| 64 | Natal tooth (HP:0000695) | 1.95286878 |
| 65 | Exostoses (HP:0100777) | 1.95129881 |
| 66 | Decreased skull ossification (HP:0004331) | 1.94728979 |
| 67 | Interstitial pulmonary disease (HP:0006530) | 1.94306330 |
| 68 | Abnormality of the acetabulum (HP:0003170) | 1.93900873 |
| 69 | Abnormality of the frontal sinuses (HP:0002687) | 1.92503166 |
| 70 | Radial bowing (HP:0002986) | 1.92325748 |
| 71 | Wormian bones (HP:0002645) | 1.91623255 |
| 72 | Cupped ribs (HP:0000887) | 1.89563044 |
| 73 | Abnormality of the peritoneum (HP:0002585) | 1.89346060 |
| 74 | Osteolytic defects of the phalanges of the hand (HP:0009771) | 1.86167927 |
| 75 | Osteolytic defects of the hand bones (HP:0009699) | 1.86167927 |
| 76 | Hematochezia (HP:0002573) | 1.85874951 |
| 77 | Abnormality of liposaccharide metabolism (HP:0010968) | 1.84541363 |
| 78 | Abnormality of glycosphingolipid metabolism (HP:0004343) | 1.84541363 |
| 79 | Abnormality of glycolipid metabolism (HP:0010969) | 1.84541363 |
| 80 | Blue sclerae (HP:0000592) | 1.81917764 |
| 81 | Asymmetry of the thorax (HP:0001555) | 1.81074363 |
| 82 | Cardiovascular calcification (HP:0011915) | 1.80271293 |
| 83 | Mesomelia (HP:0003027) | 1.79983078 |
| 84 | Ulnar bowing (HP:0003031) | 1.78680062 |
| 85 | Cone-shaped epiphyses of the phalanges of the hand (HP:0010230) | 1.78525522 |
| 86 | Thoracolumbar scoliosis (HP:0002944) | 1.76641154 |
| 87 | Abnormality of the epiphyses of the phalanges of the hand (HP:0005920) | 1.76205492 |
| 88 | Broad metatarsal (HP:0001783) | 1.76164693 |
| 89 | Aortic valve stenosis (HP:0001650) | 1.75756969 |
| 90 | Ovoid vertebral bodies (HP:0003300) | 1.75355850 |
| 91 | Hand muscle atrophy (HP:0009130) | 1.74572987 |
| 92 | Broad face (HP:0000283) | 1.74435275 |
| 93 | Broad ribs (HP:0000885) | 1.74099766 |
| 94 | Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042) | 1.73959131 |
| 95 | Short 4th metacarpal (HP:0010044) | 1.73959131 |
| 96 | Limited elbow extension (HP:0001377) | 1.73384116 |
| 97 | Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173) | 1.70405959 |
| 98 | Elbow flexion contracture (HP:0002987) | 1.68935746 |
| 99 | Tibial bowing (HP:0002982) | 1.68828960 |
| 100 | Thin bony cortex (HP:0002753) | 1.68322007 |
| 101 | Wrist flexion contracture (HP:0001239) | 1.68025606 |
| 102 | Striae distensae (HP:0001065) | 1.67983340 |
| 103 | Osteoarthritis (HP:0002758) | 1.67252581 |
| 104 | Thick nail (HP:0001805) | 1.66337048 |
| 105 | Short clavicles (HP:0000894) | 1.66150731 |
| 106 | Hallux valgus (HP:0001822) | 1.66034310 |
| 107 | Arterial thrombosis (HP:0004420) | 1.65842294 |
| 108 | Mitral regurgitation (HP:0001653) | 1.65699128 |
| 109 | Ectopia lentis (HP:0001083) | 1.65539459 |
| 110 | T lymphocytopenia (HP:0005403) | 1.64793756 |
| 111 | Fragile skin (HP:0001030) | 1.64467841 |
| 112 | Deviation of the hallux (HP:0010051) | 1.63807859 |
| 113 | Delayed cranial suture closure (HP:0000270) | 1.63647046 |
| 114 | Orchitis (HP:0100796) | 1.63602930 |
| 115 | Flared iliac wings (HP:0002869) | 1.62909574 |
| 116 | Papillary thyroid carcinoma (HP:0002895) | 1.62524634 |
| 117 | Protruding ear (HP:0000411) | 1.62293114 |
| 118 | Pectus carinatum (HP:0000768) | 1.62079362 |
| 119 | Follicular hyperkeratosis (HP:0007502) | 1.61544066 |
| 120 | Milia (HP:0001056) | 1.61444722 |
| 121 | Bowel diverticulosis (HP:0005222) | 1.61178945 |
| 122 | Abnormality of T cell number (HP:0011839) | 1.60439261 |
| 123 | Joint laxity (HP:0001388) | 1.59895975 |
| 124 | Spinal cord lesions (HP:0100561) | 1.59664360 |
| 125 | Syringomyelia (HP:0003396) | 1.59664360 |
| 126 | Deviation of the thumb (HP:0009603) | 1.59455330 |
| 127 | Coarse hair (HP:0002208) | 1.58806454 |
| 128 | Scapular winging (HP:0003691) | 1.58287751 |
| 129 | Abnormality of carpal bone ossification (HP:0006257) | 1.57164877 |
| 130 | Abnormal vertebral ossification (HP:0100569) | 1.56170166 |
| 131 | Alopecia of scalp (HP:0002293) | 1.56038050 |
| 132 | Inguinal hernia (HP:0000023) | 1.55269926 |
| 133 | Type II diabetes mellitus (HP:0005978) | 1.55160986 |
| 134 | Micronodular cirrhosis (HP:0001413) | 1.55158213 |
| 135 | Myositis (HP:0100614) | 1.55080517 |
| 136 | Camptodactyly of toe (HP:0001836) | 1.54533674 |
| 137 | Distal upper limb amyotrophy (HP:0007149) | 1.53723718 |
| 138 | Upper limb amyotrophy (HP:0009129) | 1.53723718 |
| 139 | Narrow palate (HP:0000189) | 1.53598433 |
| 140 | Hyperextensible skin (HP:0000974) | 1.53527815 |
| 141 | Photophobia (HP:0000613) | 1.52427066 |
| 142 | Emphysema (HP:0002097) | 1.52350635 |
| 143 | Disproportionate tall stature (HP:0001519) | 1.52298463 |
| 144 | Abnormal delivery (HP:0001787) | 1.51516721 |
| 145 | Short humerus (HP:0005792) | 1.51346396 |
| 146 | Overgrowth (HP:0001548) | 1.51123685 |
| 147 | Bicuspid aortic valve (HP:0001647) | 1.50825608 |
| 148 | Broad long bones (HP:0005622) | 1.50726205 |
| 149 | Periodontitis (HP:0000704) | 1.50500042 |
| 150 | Dysostosis multiplex (HP:0000943) | 1.50083326 |
| 151 | Ureteral obstruction (HP:0006000) | 1.50000643 |
| 152 | Dyschromatopsia (HP:0007641) | 1.49967450 |
| 153 | Reduced subcutaneous adipose tissue (HP:0003758) | 1.49059014 |
| 154 | Spastic diplegia (HP:0001264) | 1.48647999 |
| 155 | Urinary glycosaminoglycan excretion (HP:0003541) | 1.47961024 |
| 156 | Mucopolysacchariduria (HP:0008155) | 1.47961024 |
| 157 | Coxa vara (HP:0002812) | 1.47121527 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EIF2AK3 | 3.00414093 |
| 2 | FGFR4 | 2.79037210 |
| 3 | EPHA3 | 2.66518029 |
| 4 | JAK3 | 2.64493765 |
| 5 | IRAK3 | 2.60943159 |
| 6 | PKN2 | 2.56356591 |
| 7 | PDGFRA | 2.54002810 |
| 8 | DDR2 | 2.53509162 |
| 9 | ERBB4 | 2.42328664 |
| 10 | FGFR3 | 2.30110345 |
| 11 | TRIB3 | 2.17847320 |
| 12 | RIPK1 | 1.99504348 |
| 13 | TXK | 1.99288918 |
| 14 | TTN | 1.97496839 |
| 15 | LMTK2 | 1.92153223 |
| 16 | JAK1 | 1.88148738 |
| 17 | LATS1 | 1.86155171 |
| 18 | CDK12 | 1.81025882 |
| 19 | STK10 | 1.80317270 |
| 20 | ITK | 1.80236056 |
| 21 | MAP3K10 | 1.77445840 |
| 22 | RPS6KA4 | 1.72304345 |
| 23 | PTK6 | 1.71470125 |
| 24 | TIE1 | 1.69543475 |
| 25 | EPHB1 | 1.67256637 |
| 26 | TYK2 | 1.67186516 |
| 27 | SCYL2 | 1.62371310 |
| 28 | BCR | 1.59993015 |
| 29 | MAP3K14 | 1.59888706 |
| 30 | STK38L | 1.57881898 |
| 31 | FGFR1 | 1.53359611 |
| 32 | EEF2K | 1.46088880 |
| 33 | SIK3 | 1.45824873 |
| 34 | FER | 1.45758051 |
| 35 | MYLK | 1.44682422 |
| 36 | MAP4K1 | 1.37395314 |
| 37 | LRRK2 | 1.37063299 |
| 38 | PDGFRB | 1.34688843 |
| 39 | CAMK1D | 1.34241802 |
| 40 | PRPF4B | 1.33599917 |
| 41 | FGFR2 | 1.30186034 |
| 42 | KSR1 | 1.29961359 |
| 43 | DMPK | 1.29034949 |
| 44 | NEK9 | 1.23813527 |
| 45 | TRIM28 | 1.22919932 |
| 46 | BMX | 1.22724840 |
| 47 | STK3 | 1.17534721 |
| 48 | CHUK | 1.17484486 |
| 49 | PBK | 1.17373253 |
| 50 | NTRK1 | 1.15417868 |
| 51 | AKT3 | 1.14872142 |
| 52 | TGFBR1 | 1.11807964 |
| 53 | TYRO3 | 1.10915175 |
| 54 | LIMK1 | 1.10363112 |
| 55 | PDK2 | 1.09616319 |
| 56 | TBK1 | 1.08867852 |
| 57 | SIK1 | 1.08311444 |
| 58 | BMPR2 | 1.08167503 |
| 59 | ERN1 | 1.05832901 |
| 60 | BRSK2 | 1.04952251 |
| 61 | MAP3K3 | 1.03450776 |
| 62 | TGFBR2 | 1.02125965 |
| 63 | CDK6 | 0.97880198 |
| 64 | MAP3K13 | 0.96246121 |
| 65 | MELK | 0.96148636 |
| 66 | PLK2 | 0.95701367 |
| 67 | STK24 | 0.94537623 |
| 68 | CDK8 | 0.93901876 |
| 69 | RET | 0.93264396 |
| 70 | CAMK1G | 0.93158978 |
| 71 | IRAK1 | 0.93059751 |
| 72 | PTK2 | 0.92937043 |
| 73 | MAP3K12 | 0.92438436 |
| 74 | CSK | 0.91533571 |
| 75 | JAK2 | 0.89333658 |
| 76 | CDK9 | 0.88146734 |
| 77 | EIF2AK2 | 0.85283733 |
| 78 | EIF2AK1 | 0.84302754 |
| 79 | ZAP70 | 0.84249313 |
| 80 | MST4 | 0.83926400 |
| 81 | MTOR | 0.79818920 |
| 82 | PAK2 | 0.79783431 |
| 83 | ERBB3 | 0.79429898 |
| 84 | MST1R | 0.78172286 |
| 85 | GRK7 | 0.77854057 |
| 86 | STK38 | 0.77566175 |
| 87 | KSR2 | 0.76337021 |
| 88 | PAK3 | 0.75993407 |
| 89 | IKBKE | 0.75667887 |
| 90 | TRPM7 | 0.74646598 |
| 91 | EPHB2 | 0.74627245 |
| 92 | CLK1 | 0.73817455 |
| 93 | TAOK2 | 0.73427067 |
| 94 | LCK | 0.72934960 |
| 95 | HCK | 0.72486172 |
| 96 | ALK | 0.72102536 |
| 97 | MARK3 | 0.71677100 |
| 98 | MET | 0.71127624 |
| 99 | PRKCH | 0.70152229 |
| 100 | BRD4 | 0.66907906 |
| 101 | EGFR | 0.66035359 |
| 102 | CDC42BPA | 0.66015266 |
| 103 | PAK4 | 0.65424022 |
| 104 | HIPK2 | 0.65231959 |
| 105 | TESK1 | 0.64480902 |
| 106 | MAP3K8 | 0.63974171 |
| 107 | PRKCE | 0.63221122 |
| 108 | KDR | 0.61596324 |
| 109 | FRK | 0.57690221 |
| 110 | DYRK1B | 0.56993002 |
| 111 | INSR | 0.56965339 |
| 112 | MAPK7 | 0.55436995 |
| 113 | NLK | 0.53354236 |
| 114 | ABL2 | 0.53269699 |
| 115 | MKNK1 | 0.52419265 |
| 116 | IKBKB | 0.51362324 |
| 117 | ERBB2 | 0.51165749 |
| 118 | MAP3K6 | 0.50336464 |
| 119 | PAK6 | 0.50212980 |
| 120 | EPHA2 | 0.49922332 |
| 121 | MAP3K2 | 0.48490673 |
| 122 | PIK3CA | 0.48393191 |
| 123 | BMPR1B | 0.47529076 |
| 124 | PRKG2 | 0.47168609 |
| 125 | FLT3 | 0.46709473 |
| 126 | ROCK2 | 0.45363276 |
| 127 | ABL1 | 0.45104870 |
| 128 | RPS6KB2 | 0.44750667 |
| 129 | NEK6 | 0.44531470 |
| 130 | IGF1R | 0.44427419 |
| 131 | MAP3K5 | 0.43738532 |
| 132 | MAP3K7 | 0.43425985 |
| 133 | CSNK1A1L | 0.43251399 |
| 134 | SRC | 0.41646064 |
| 135 | NEK1 | 0.41440924 |
| 136 | MKNK2 | 0.41102539 |
| 137 | ROCK1 | 0.40002658 |
| 138 | GSK3A | 0.38950738 |
| 139 | NUAK1 | 0.38856071 |
| 140 | KIT | 0.37456022 |
| 141 | SGK3 | 0.37308955 |
| 142 | LATS2 | 0.34516163 |
| 143 | MOS | 0.34418829 |
| 144 | CDK4 | 0.34351707 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Phototransduction_Homo sapiens_hsa04744 | 2.46697239 |
| 2 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 2.20097993 |
| 3 | ECM-receptor interaction_Homo sapiens_hsa04512 | 1.85271876 |
| 4 | Leishmaniasis_Homo sapiens_hsa05140 | 1.68996269 |
| 5 | Viral myocarditis_Homo sapiens_hsa05416 | 1.67816299 |
| 6 | Malaria_Homo sapiens_hsa05144 | 1.64420128 |
| 7 | Other glycan degradation_Homo sapiens_hsa00511 | 1.63778959 |
| 8 | TNF signaling pathway_Homo sapiens_hsa04668 | 1.62773773 |
| 9 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.61766721 |
| 10 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.60193093 |
| 11 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 1.60153629 |
| 12 | Adherens junction_Homo sapiens_hsa04520 | 1.58142202 |
| 13 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 1.57732419 |
| 14 | Focal adhesion_Homo sapiens_hsa04510 | 1.57361063 |
| 15 | T cell receptor signaling pathway_Homo sapiens_hsa04660 | 1.55801958 |
| 16 | Small cell lung cancer_Homo sapiens_hsa05222 | 1.54047497 |
| 17 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 1.53620277 |
| 18 | Allograft rejection_Homo sapiens_hsa05330 | 1.50572758 |
| 19 | Osteoclast differentiation_Homo sapiens_hsa04380 | 1.49275680 |
| 20 | Toxoplasmosis_Homo sapiens_hsa05145 | 1.49241193 |
| 21 | * Proteoglycans in cancer_Homo sapiens_hsa05205 | 1.45441843 |
| 22 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 1.45336914 |
| 23 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 1.40747528 |
| 24 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.38725600 |
| 25 | Measles_Homo sapiens_hsa05162 | 1.35333766 |
| 26 | Pancreatic cancer_Homo sapiens_hsa05212 | 1.31741817 |
| 27 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 1.27820400 |
| 28 | Legionellosis_Homo sapiens_hsa05134 | 1.26201455 |
| 29 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 1.22961959 |
| 30 | Hepatitis B_Homo sapiens_hsa05161 | 1.17991814 |
| 31 | Asthma_Homo sapiens_hsa05310 | 1.17990039 |
| 32 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 1.17753681 |
| 33 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.17059996 |
| 34 | Lysosome_Homo sapiens_hsa04142 | 1.16945107 |
| 35 | Toll-like receptor signaling pathway_Homo sapiens_hsa04620 | 1.16893219 |
| 36 | Amoebiasis_Homo sapiens_hsa05146 | 1.14420009 |
| 37 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 1.13574771 |
| 38 | Hippo signaling pathway_Homo sapiens_hsa04390 | 1.12116977 |
| 39 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 1.11905750 |
| 40 | Shigellosis_Homo sapiens_hsa05131 | 1.11079348 |
| 41 | HTLV-I infection_Homo sapiens_hsa05166 | 1.10933234 |
| 42 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.10561949 |
| 43 | Notch signaling pathway_Homo sapiens_hsa04330 | 1.09908421 |
| 44 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 1.07690881 |
| 45 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 1.06291250 |
| 46 | Salmonella infection_Homo sapiens_hsa05132 | 1.05107516 |
| 47 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.04203304 |
| 48 | Colorectal cancer_Homo sapiens_hsa05210 | 1.02945816 |
| 49 | Chemokine signaling pathway_Homo sapiens_hsa04062 | 1.02676397 |
| 50 | * Renal cell carcinoma_Homo sapiens_hsa05211 | 1.01730142 |
| 51 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 1.01287929 |
| 52 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 1.00992477 |
| 53 | * HIF-1 signaling pathway_Homo sapiens_hsa04066 | 1.00943417 |
| 54 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 1.00687419 |
| 55 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 1.00125917 |
| 56 | * Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.99869756 |
| 57 | Thyroid cancer_Homo sapiens_hsa05216 | 0.99661405 |
| 58 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.98585031 |
| 59 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.98528052 |
| 60 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.98084706 |
| 61 | Chagas disease (American trypanosomiasis)_Homo sapiens_hsa05142 | 0.97968220 |
| 62 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 0.94828215 |
| 63 | Influenza A_Homo sapiens_hsa05164 | 0.91785544 |
| 64 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.91079184 |
| 65 | Apoptosis_Homo sapiens_hsa04210 | 0.90446564 |
| 66 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.89936857 |
| 67 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 0.89012318 |
| 68 | African trypanosomiasis_Homo sapiens_hsa05143 | 0.88895946 |
| 69 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 0.88726220 |
| 70 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.88667844 |
| 71 | Fc epsilon RI signaling pathway_Homo sapiens_hsa04664 | 0.88353370 |
| 72 | Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650 | 0.88303033 |
| 73 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.87426117 |
| 74 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.87056400 |
| 75 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.85922528 |
| 76 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.85773538 |
| 77 | * mTOR signaling pathway_Homo sapiens_hsa04150 | 0.85605020 |
| 78 | Tuberculosis_Homo sapiens_hsa05152 | 0.85068507 |
| 79 | * Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.84918685 |
| 80 | Circadian rhythm_Homo sapiens_hsa04710 | 0.84848528 |
| 81 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 0.84184317 |
| 82 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.81003257 |
| 83 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.80397026 |
| 84 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.79393273 |
| 85 | Glioma_Homo sapiens_hsa05214 | 0.78923508 |
| 86 | Bladder cancer_Homo sapiens_hsa05219 | 0.77439390 |
| 87 | Platelet activation_Homo sapiens_hsa04611 | 0.77332327 |
| 88 | Prostate cancer_Homo sapiens_hsa05215 | 0.77008910 |
| 89 | Endometrial cancer_Homo sapiens_hsa05213 | 0.76935699 |
| 90 | * Pathways in cancer_Homo sapiens_hsa05200 | 0.75164198 |
| 91 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.74265002 |
| 92 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 0.74205413 |
| 93 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.73912517 |
| 94 | Pertussis_Homo sapiens_hsa05133 | 0.73764646 |
| 95 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.72522142 |
| 96 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.71992951 |
| 97 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.71648532 |
| 98 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.70240013 |
| 99 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.69540395 |
| 100 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 0.69472919 |
| 101 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.67995268 |
| 102 | Endocytosis_Homo sapiens_hsa04144 | 0.67081431 |
| 103 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.66017043 |
| 104 | Phagosome_Homo sapiens_hsa04145 | 0.65236897 |
| 105 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.63912867 |
| 106 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.63107963 |
| 107 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.60533722 |
| 108 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.60278385 |
| 109 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 0.59706883 |
| 110 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.59394857 |
| 111 | Insulin resistance_Homo sapiens_hsa04931 | 0.58329022 |
| 112 | Melanoma_Homo sapiens_hsa05218 | 0.58196699 |
| 113 | Hepatitis C_Homo sapiens_hsa05160 | 0.57083416 |
| 114 | Galactose metabolism_Homo sapiens_hsa00052 | 0.57012142 |
| 115 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.56859241 |
| 116 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.56009293 |
| 117 | RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622 | 0.55967162 |
| 118 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.54975810 |
| 119 | Tight junction_Homo sapiens_hsa04530 | 0.54154444 |
| 120 | FoxO signaling pathway_Homo sapiens_hsa04068 | 0.53027655 |
| 121 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.51214765 |
| 122 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.49777866 |
| 123 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.46705368 |
| 124 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.46225774 |

