

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | fusion of sperm to egg plasma membrane (GO:0007342) | 6.00669924 |
| 2 | sperm motility (GO:0030317) | 5.68366048 |
| 3 | sperm-egg recognition (GO:0035036) | 5.64777274 |
| 4 | cell wall macromolecule metabolic process (GO:0044036) | 5.51579427 |
| 5 | cell wall macromolecule catabolic process (GO:0016998) | 5.51579427 |
| 6 | binding of sperm to zona pellucida (GO:0007339) | 5.27912629 |
| 7 | barbed-end actin filament capping (GO:0051016) | 5.12356749 |
| 8 | cell-cell recognition (GO:0009988) | 5.05602119 |
| 9 | protein localization to endosome (GO:0036010) | 5.03596493 |
| 10 | acrosome assembly (GO:0001675) | 4.91636680 |
| 11 | multicellular organism reproduction (GO:0032504) | 4.87053722 |
| 12 | acrosome reaction (GO:0007340) | 4.70559035 |
| 13 | plasma membrane fusion (GO:0045026) | 4.51195170 |
| 14 | reproduction (GO:0000003) | 4.31762590 |
| 15 | synaptonemal complex assembly (GO:0007130) | 4.22319471 |
| 16 | spermatid development (GO:0007286) | 4.20541598 |
| 17 | synaptonemal complex organization (GO:0070193) | 4.08009470 |
| 18 | pinocytosis (GO:0006907) | 3.81422488 |
| 19 | stress fiber assembly (GO:0043149) | 3.79013238 |
| 20 | regulation of early endosome to late endosome transport (GO:2000641) | 3.65164890 |
| 21 | Golgi transport vesicle coating (GO:0048200) | 3.51916908 |
| 22 | COPI coating of Golgi vesicle (GO:0048205) | 3.51916908 |
| 23 | axonemal dynein complex assembly (GO:0070286) | 3.49466371 |
| 24 | protein maturation by protein folding (GO:0022417) | 3.48592060 |
| 25 | dichotomous subdivision of an epithelial terminal unit (GO:0060600) | 3.43038783 |
| 26 | motile cilium assembly (GO:0044458) | 3.42467628 |
| 27 | low-density lipoprotein particle clearance (GO:0034383) | 3.41248024 |
| 28 | cellular response to arsenic-containing substance (GO:0071243) | 3.39505210 |
| 29 | hyaluronan catabolic process (GO:0030214) | 3.39133745 |
| 30 | interferon-gamma secretion (GO:0072643) | 3.38744099 |
| 31 | basement membrane organization (GO:0071711) | 3.32146201 |
| 32 | cilium or flagellum-dependent cell motility (GO:0001539) | 3.28597549 |
| 33 | substrate-dependent cell migration (GO:0006929) | 3.28361188 |
| 34 | amino sugar catabolic process (GO:0046348) | 3.28014686 |
| 35 | regulation of cilium movement (GO:0003352) | 3.27461616 |
| 36 | amyloid precursor protein catabolic process (GO:0042987) | 3.26189668 |
| 37 | tooth mineralization (GO:0034505) | 3.24520062 |
| 38 | piRNA metabolic process (GO:0034587) | 3.23273777 |
| 39 | adhesion of symbiont to host cell (GO:0044650) | 3.21528718 |
| 40 | virion attachment to host cell (GO:0019062) | 3.21528718 |
| 41 | sequestering of actin monomers (GO:0042989) | 3.14713722 |
| 42 | protein retention in ER lumen (GO:0006621) | 3.14163644 |
| 43 | natural killer cell mediated immunity (GO:0002228) | 3.13797625 |
| 44 | natural killer cell mediated cytotoxicity (GO:0042267) | 3.13797625 |
| 45 | single fertilization (GO:0007338) | 3.13190785 |
| 46 | glycosphingolipid catabolic process (GO:0046479) | 3.11342971 |
| 47 | vascular endothelial growth factor receptor signaling pathway (GO:0048010) | 3.09631955 |
| 48 | positive regulation of syncytium formation by plasma membrane fusion (GO:0060143) | 3.07322296 |
| 49 | endoplasmic reticulum calcium ion homeostasis (GO:0032469) | 3.06486656 |
| 50 | male meiosis (GO:0007140) | 3.00677899 |
| 51 | decidualization (GO:0046697) | 3.00590721 |
| 52 | maintenance of protein localization in endoplasmic reticulum (GO:0035437) | 2.98237041 |
| 53 | positive regulation of receptor recycling (GO:0001921) | 2.98038175 |
| 54 | cell-substrate junction assembly (GO:0007044) | 2.96806077 |
| 55 | regulation of podosome assembly (GO:0071801) | 2.93453068 |
| 56 | epithelial cell-cell adhesion (GO:0090136) | 2.92707889 |
| 57 | adhesion of symbiont to host (GO:0044406) | 2.88108119 |
| 58 | adherens junction assembly (GO:0034333) | 2.87623758 |
| 59 | epithelial cilium movement (GO:0003351) | 2.86687180 |
| 60 | response to peptidoglycan (GO:0032494) | 2.85336706 |
| 61 | organic cation transport (GO:0015695) | 2.82077280 |
| 62 | neutrophil activation involved in immune response (GO:0002283) | 2.82041037 |
| 63 | pentose-phosphate shunt (GO:0006098) | 2.81826688 |
| 64 | positive regulation by symbiont of host defense response (GO:0052509) | 2.80806117 |
| 65 | modulation by symbiont of host defense response (GO:0052031) | 2.80806117 |
| 66 | modulation by organism of immune response of other organism involved in symbiotic interaction (GO:00 | 2.80806117 |
| 67 | modulation by organism of defense response of other organism involved in symbiotic interaction (GO:0 | 2.80806117 |
| 68 | positive regulation by organism of defense response of other organism involved in symbiotic interact | 2.80806117 |
| 69 | modulation by symbiont of host immune response (GO:0052553) | 2.80806117 |
| 70 | negative regulation of inclusion body assembly (GO:0090084) | 2.79584541 |
| 71 | spermatogenesis (GO:0007283) | 2.79182543 |
| 72 | glial cell migration (GO:0008347) | 2.78668737 |
| 73 | male gamete generation (GO:0048232) | 2.78208660 |
| 74 | adenosine receptor signaling pathway (GO:0001973) | 2.78020395 |
| 75 | embryo implantation (GO:0007566) | 2.77990377 |
| 76 | apoptotic cell clearance (GO:0043277) | 2.76376290 |
| 77 | response to laminar fluid shear stress (GO:0034616) | 2.74548443 |
| 78 | vascular endothelial growth factor signaling pathway (GO:0038084) | 2.73247693 |
| 79 | cellular response to thyroid hormone stimulus (GO:0097067) | 2.73133471 |
| 80 | hemidesmosome assembly (GO:0031581) | 2.71681730 |
| 81 | semaphorin-plexin signaling pathway (GO:0071526) | 2.71392660 |
| 82 | response to muramyl dipeptide (GO:0032495) | 2.71311985 |
| 83 | Arp2/3 complex-mediated actin nucleation (GO:0034314) | 2.70042335 |
| 84 | glycolipid catabolic process (GO:0019377) | 2.69107489 |
| 85 | immunoglobulin mediated immune response (GO:0016064) | 2.68569546 |
| 86 | fertilization (GO:0009566) | 2.68512999 |
| 87 | regulation of membrane protein ectodomain proteolysis (GO:0051043) | 2.65133962 |
| 88 | endodermal cell differentiation (GO:0035987) | 2.65103301 |
| 89 | positive regulation of blood vessel endothelial cell migration (GO:0043536) | 2.64788079 |
| 90 | membrane protein ectodomain proteolysis (GO:0006509) | 2.63729997 |
| 91 | cortical actin cytoskeleton organization (GO:0030866) | 2.63562623 |
| 92 | chromosome condensation (GO:0030261) | 2.61879128 |
| 93 | positive regulation of extracellular matrix organization (GO:1903055) | 2.61724230 |
| 94 | extracellular fibril organization (GO:0043206) | 2.61115996 |
| 95 | negative regulation of adherens junction organization (GO:1903392) | 2.60571232 |
| 96 | negative regulation of focal adhesion assembly (GO:0051895) | 2.60571232 |
| 97 | negative regulation of cell junction assembly (GO:1901889) | 2.60571232 |
| 98 | cell-substrate adherens junction assembly (GO:0007045) | 2.60554540 |
| 99 | focal adhesion assembly (GO:0048041) | 2.60554540 |
| 100 | retina vasculature morphogenesis in camera-type eye (GO:0061299) | 2.60528057 |
| 101 | heterochromatin organization (GO:0070828) | 2.60512167 |
| 102 | fibril organization (GO:0097435) | 2.59972430 |
| 103 | regulation of cholesterol storage (GO:0010885) | 2.59568810 |
| 104 | endothelial cell chemotaxis (GO:0035767) | 2.59010918 |
| 105 | hypotonic response (GO:0006971) | 2.56709804 |
| 106 | regulation of superoxide anion generation (GO:0032928) | 2.56359164 |
| 107 | negative regulation of smooth muscle cell migration (GO:0014912) | 2.55742773 |
| 108 | leukocyte mediated cytotoxicity (GO:0001909) | 2.55387510 |
| 109 | peptidyl-proline hydroxylation (GO:0019511) | 2.55357666 |
| 110 | planar cell polarity pathway involved in neural tube closure (GO:0090179) | 2.55192861 |
| 111 | positive regulation of interferon-alpha production (GO:0032727) | 2.55183585 |
| 112 | positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241) | 2.55036137 |
| 113 | negative regulation of interleukin-8 production (GO:0032717) | 2.51891574 |
| 114 | angiogenesis involved in wound healing (GO:0060055) | 2.51847198 |
| 115 | oligosaccharide catabolic process (GO:0009313) | 2.51638062 |
| 116 | gamete generation (GO:0007276) | 2.51557186 |
| 117 | skin morphogenesis (GO:0043589) | 2.50695283 |
| 118 | respiratory burst (GO:0045730) | 2.50463538 |
| 119 | modulation by symbiont of host cellular process (GO:0044068) | 2.50371900 |
| 120 | regulation of inclusion body assembly (GO:0090083) | 2.50358903 |
| 121 | collagen metabolic process (GO:0032963) | 2.49389839 |
| 122 | retrograde vesicle-mediated transport, Golgi to ER (GO:0006890) | 2.48914724 |
| 123 | regulation of mammary gland epithelial cell proliferation (GO:0033599) | 2.47697206 |
| 124 | regulation of vascular endothelial growth factor signaling pathway (GO:1900746) | 2.46653185 |
| 125 | seminiferous tubule development (GO:0072520) | 2.46489571 |
| 126 | cortical cytoskeleton organization (GO:0030865) | 2.46181407 |
| 127 | regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547) | 2.45712075 |
| 128 | cell migration involved in heart development (GO:0060973) | 2.44502739 |
| 129 | collagen catabolic process (GO:0030574) | 2.44060416 |
| 130 | negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176) | 2.43621576 |
| 131 | regulation of G0 to G1 transition (GO:0070316) | 2.43255632 |
| 132 | monoubiquitinated protein deubiquitination (GO:0035520) | 2.42938073 |
| 133 | NADPH regeneration (GO:0006740) | 2.42380155 |
| 134 | regulation of interferon-beta biosynthetic process (GO:0045357) | 2.42326364 |
| 135 | wound healing, spreading of cells (GO:0044319) | 2.41982693 |
| 136 | glucose catabolic process (GO:0006007) | 2.40267500 |
| 137 | heparan sulfate proteoglycan biosynthetic process (GO:0015012) | 2.39934225 |
| 138 | regulation of extracellular matrix disassembly (GO:0010715) | 2.39666222 |
| 139 | regulation of syncytium formation by plasma membrane fusion (GO:0060142) | 2.39574365 |
| 140 | sexual reproduction (GO:0019953) | 2.38243628 |
| 141 | folic acid transport (GO:0015884) | 2.38242545 |
| 142 | lipopolysaccharide-mediated signaling pathway (GO:0031663) | 2.37796765 |
| 143 | response to progesterone (GO:0032570) | 2.37751377 |
| 144 | cellular response to vascular endothelial growth factor stimulus (GO:0035924) | 2.37237113 |
| 145 | cellular copper ion homeostasis (GO:0006878) | 2.37232410 |
| 146 | regulation of interferon-alpha production (GO:0032647) | 2.37182248 |
| 147 | protein heterotrimerization (GO:0070208) | 2.35825288 |
| 148 | extracellular matrix disassembly (GO:0022617) | 2.35644017 |
| 149 | cellular response to interferon-alpha (GO:0035457) | 2.35146213 |
| 150 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 2.35055329 |
| 151 | left/right pattern formation (GO:0060972) | 2.34789235 |
| 152 | regulation of apoptotic process involved in morphogenesis (GO:1902337) | 2.34514121 |
| 153 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 2.33766457 |
| 154 | protein hydroxylation (GO:0018126) | 2.33319139 |
| 155 | regulation of mononuclear cell migration (GO:0071675) | 2.32897900 |
| 156 | mannose metabolic process (GO:0006013) | 2.32374790 |
| 157 | wound healing, spreading of epidermal cells (GO:0035313) | 2.31988542 |
| 158 | response to magnesium ion (GO:0032026) | 2.30299227 |
| 159 | negative regulation of release of cytochrome c from mitochondria (GO:0090201) | 2.30245476 |
| 160 | negative regulation of cell size (GO:0045792) | 2.30124784 |
| 161 | DNA packaging (GO:0006323) | 2.30004668 |
| 162 | cell adhesion mediated by integrin (GO:0033627) | 2.29705839 |
| 163 | negative regulation of toll-like receptor 4 signaling pathway (GO:0034144) | 2.29548379 |
| 164 | response to acidic pH (GO:0010447) | 2.28588114 |
| 165 | macrophage activation involved in immune response (GO:0002281) | 2.27634780 |
| 166 | sperm capacitation (GO:0048240) | 2.26317819 |
| 167 | positive regulation of interleukin-8 biosynthetic process (GO:0045416) | 2.26177412 |
| 168 | positive regulation of protein import into nucleus, translocation (GO:0033160) | 2.25881259 |
| 169 | membrane protein intracellular domain proteolysis (GO:0031293) | 2.25446387 |
| 170 | antigen processing and presentation via MHC class Ib (GO:0002475) | 2.23907866 |
| 171 | regulation of protein import into nucleus, translocation (GO:0033158) | 2.23200511 |
| 172 | chromosome organization involved in meiosis (GO:0070192) | 2.22948213 |
| 173 | negative regulation of fatty acid transport (GO:2000192) | 2.22641323 |
| 174 | male meiosis I (GO:0007141) | 2.22543440 |
| 175 | apoptotic process involved in morphogenesis (GO:0060561) | 2.22536679 |
| 176 | germ cell development (GO:0007281) | 2.22383056 |
| 177 | protein localization to chromosome, centromeric region (GO:0071459) | 2.22190919 |
| 178 | negative regulation of interleukin-12 production (GO:0032695) | 2.21942606 |
| 179 | antigen processing and presentation of endogenous peptide antigen (GO:0002483) | 2.21467983 |
| 180 | antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885) | 2.21467983 |
| 181 | negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471) | 2.21001692 |
| 182 | T cell apoptotic process (GO:0070231) | 2.20875674 |
| 183 | polyamine biosynthetic process (GO:0006596) | 2.19206362 |
| 184 | positive regulation of membrane protein ectodomain proteolysis (GO:0051044) | 2.19053602 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 4.55759251 |
| 2 | IRF8_21731497_ChIP-ChIP_J774_Mouse | 2.75055415 |
| 3 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 2.67203336 |
| 4 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 2.63763403 |
| 5 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 2.55503904 |
| 6 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 2.30921155 |
| 7 | MYB_21317192_ChIP-Seq_ERMYB_Mouse | 2.29596981 |
| 8 | * KDM2B_26808549_Chip-Seq_SUP-B15_Human | 2.11148873 |
| 9 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 2.08605675 |
| 10 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 2.03384342 |
| 11 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 1.95329292 |
| 12 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 1.92134073 |
| 13 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.89242657 |
| 14 | NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human | 1.86510302 |
| 15 | NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse | 1.84558921 |
| 16 | IRF8_27001747_Chip-Seq_BMDM_Mouse | 1.83352057 |
| 17 | * BRD4_27068464_Chip-Seq_AML-cells_Mouse | 1.80639595 |
| 18 | * RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 1.80024654 |
| 19 | ELK3_25401928_ChIP-Seq_HUVEC_Human | 1.79621835 |
| 20 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 1.74042662 |
| 21 | UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 1.72038345 |
| 22 | TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.71044427 |
| 23 | ZNF263_19887448_ChIP-Seq_K562_Human | 1.68991018 |
| 24 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 1.68595293 |
| 25 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.68337344 |
| 26 | * ASXL1_24218140_ChIP-Seq_BMDM_Mouse | 1.68281708 |
| 27 | ZFP281_18358816_ChIP-ChIP_MESCs_Mouse | 1.66601982 |
| 28 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.64075096 |
| 29 | * ESR2_21235772_ChIP-Seq_MCF-7_Human | 1.61654466 |
| 30 | * PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 1.61444541 |
| 31 | RUNX1_20887958_ChIP-Seq_HPC-7_Mouse | 1.60723144 |
| 32 | VDR_21846776_ChIP-Seq_THP-1_Human | 1.55272256 |
| 33 | * KDM2B_26808549_Chip-Seq_K562_Human | 1.54926953 |
| 34 | CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 1.50583196 |
| 35 | P300_27058665_Chip-Seq_ZR-75-30cells_Human | 1.47998545 |
| 36 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 1.47848985 |
| 37 | * STAT3_1855785_ChIP-Seq_MESCs_Mouse | 1.47436235 |
| 38 | MYC_22102868_ChIP-Seq_BL_Human | 1.45569605 |
| 39 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 1.42012155 |
| 40 | * SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse | 1.40671925 |
| 41 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 1.40540589 |
| 42 | * CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse | 1.40524933 |
| 43 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.39906147 |
| 44 | Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse | 1.39622000 |
| 45 | CTCF_27219007_Chip-Seq_ERYTHROID_Human | 1.38013630 |
| 46 | ATF3_27146783_Chip-Seq_COLON_Human | 1.36936103 |
| 47 | * TCF7_22412390_ChIP-Seq_EML_Mouse | 1.36881221 |
| 48 | RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human | 1.34760029 |
| 49 | PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse | 1.33848671 |
| 50 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 1.33543988 |
| 51 | ZFP281_18757296_ChIP-ChIP_E14_Mouse | 1.33099268 |
| 52 | * SPI1_22096565_ChIP-ChIP_GC-B_Mouse | 1.32988887 |
| 53 | NR0B1_18358816_ChIP-ChIP_MESCs_Mouse | 1.32751978 |
| 54 | SRY_22984422_ChIP-ChIP_TESTIS_Rat | 1.32099466 |
| 55 | SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 1.31324266 |
| 56 | * SPI1_23547873_ChIP-Seq_NB4_Human | 1.30964946 |
| 57 | MAF_26560356_Chip-Seq_TH1_Human | 1.30391793 |
| 58 | RUNX1_22412390_ChIP-Seq_EML_Mouse | 1.29620423 |
| 59 | KLF4_18358816_ChIP-ChIP_MESCs_Mouse | 1.27227109 |
| 60 | VDR_24763502_ChIP-Seq_THP-1_Human | 1.26744334 |
| 61 | * PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse | 1.26663372 |
| 62 | P68_20966046_ChIP-Seq_HELA_Human | 1.25492736 |
| 63 | WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 1.25475880 |
| 64 | MECOM_23826213_ChIP-Seq_KASUMI_Mouse | 1.25318599 |
| 65 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 1.24872819 |
| 66 | EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human | 1.24489365 |
| 67 | * TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 1.23915691 |
| 68 | * SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 1.23868370 |
| 69 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.22379111 |
| 70 | * CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 1.22237801 |
| 71 | ERG_21242973_ChIP-ChIP_JURKAT_Human | 1.21373746 |
| 72 | KDM2B_26808549_Chip-Seq_SIL-ALL_Human | 1.20511387 |
| 73 | * UBF1/2_26484160_Chip-Seq_HMECs_Human | 1.20222149 |
| 74 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.19249688 |
| 75 | SMC1_22415368_ChIP-Seq_MEFs_Mouse | 1.19243825 |
| 76 | P63_26484246_Chip-Seq_KERATINOCYTES_Human | 1.17346847 |
| 77 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.17269822 |
| 78 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.17234907 |
| 79 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.16741334 |
| 80 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 1.16516572 |
| 81 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.15463350 |
| 82 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 1.14855288 |
| 83 | MEIS1_20887958_ChIP-Seq_HPC-7_Mouse | 1.14448047 |
| 84 | UTX_26944678_Chip-Seq_JUKART_Human | 1.13835325 |
| 85 | SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 1.13760938 |
| 86 | RACK7_27058665_Chip-Seq_MCF-7_Human | 1.13066470 |
| 87 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 1.12788163 |
| 88 | SMC3_22415368_ChIP-Seq_MEFs_Mouse | 1.12743483 |
| 89 | CLOCK_20551151_ChIP-Seq_293T_Human | 1.12632036 |
| 90 | * KLF4_18555785_ChIP-Seq_MESCs_Mouse | 1.11964072 |
| 91 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 1.11676241 |
| 92 | FLI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.11168476 |
| 93 | CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.10721582 |
| 94 | * DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 1.10418025 |
| 95 | SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse | 1.09704464 |
| 96 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.08925371 |
| 97 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 1.08658042 |
| 98 | ATF3_23680149_ChIP-Seq_GBM1-GSC_Human | 1.08320437 |
| 99 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.07519534 |
| 100 | CTCF_26484167_Chip-Seq_Bcells_Mouse | 1.07113535 |
| 101 | * SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 1.05942421 |
| 102 | STAT4_19710469_ChIP-ChIP_TH1__Mouse | 1.05654818 |
| 103 | MYB_26560356_Chip-Seq_TH2_Human | 1.05548616 |
| 104 | KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.05167094 |
| 105 | * KDM2B_26808549_Chip-Seq_JURKAT_Human | 1.04896719 |
| 106 | TP53_22127205_ChIP-Seq_IMR90_Human | 1.03912528 |
| 107 | * CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse | 1.03611822 |
| 108 | CTCF_18555785_ChIP-Seq_MESCs_Mouse | 1.03488466 |
| 109 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 1.02338113 |
| 110 | MAF_26560356_Chip-Seq_TH2_Human | 1.01718687 |
| 111 | PPARA_22158963_ChIP-Seq_LIVER_Mouse | 1.01537727 |
| 112 | TAL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.00789031 |
| 113 | GATA2_21666600_ChIP-Seq_HMVEC_Human | 1.00493784 |
| 114 | NCOR1_26117541_ChIP-Seq_K562_Human | 0.99975125 |
| 115 | TBX20_22328084_ChIP-Seq_HEART_Mouse | 0.99266919 |
| 116 | TBX20_22080862_ChIP-Seq_HEART_Mouse | 0.99266919 |
| 117 | MYB_26560356_Chip-Seq_TH1_Human | 0.99150191 |
| 118 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 0.98410415 |
| 119 | TFEB_21752829_ChIP-Seq_HELA_Human | 0.98395077 |
| 120 | CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse | 0.98230603 |
| 121 | SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.97497496 |
| 122 | CEBPB_24764292_ChIP-Seq_MC3T3_Mouse | 0.97445588 |
| 123 | FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human | 0.96561576 |
| 124 | TET1_21490601_ChIP-Seq_MESCs_Mouse | 0.96064549 |
| 125 | PHF8_20622854_ChIP-Seq_HELA_Human | 0.95604772 |
| 126 | * KDM2B_26808549_Chip-Seq_DND41_Human | 0.95585503 |
| 127 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 0.95527041 |
| 128 | IRF8_22096565_ChIP-ChIP_GC-B_Mouse | 0.95490769 |
| 129 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.94953762 |
| 130 | CTCF_21964334_Chip-Seq_Bcells_Human | 0.94544986 |
| 131 | TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 0.94107000 |
| 132 | RXR_22158963_ChIP-Seq_LIVER_Mouse | 0.93978789 |
| 133 | * SPI1_20517297_ChIP-Seq_HL60_Human | 0.93783670 |
| 134 | KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.92516451 |
| 135 | GATA1_22383799_ChIP-Seq_G1ME_Mouse | 0.92212683 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 4.90788543 |
| 2 | MP0008438_abnormal_cutaneous_collagen | 3.10271454 |
| 3 | MP0003705_abnormal_hypodermis_morpholog | 3.07382080 |
| 4 | MP0005451_abnormal_body_composition | 2.40072741 |
| 5 | MP0008260_abnormal_autophagy | 2.35539629 |
| 6 | MP0003303_peritoneal_inflammation | 2.24386478 |
| 7 | MP0009278_abnormal_bone_marrow | 2.23582605 |
| 8 | MP0010030_abnormal_orbit_morphology | 2.16502580 |
| 9 | MP0009840_abnormal_foam_cell | 2.14895353 |
| 10 | MP0003436_decreased_susceptibility_to | 2.14525495 |
| 11 | MP0003279_aneurysm | 2.11147740 |
| 12 | MP0010368_abnormal_lymphatic_system | 2.05413887 |
| 13 | MP0003566_abnormal_cell_adhesion | 1.94731370 |
| 14 | MP0005397_hematopoietic_system_phenotyp | 1.91118052 |
| 15 | MP0001545_abnormal_hematopoietic_system | 1.91118052 |
| 16 | MP0005058_abnormal_lysosome_morphology | 1.90513207 |
| 17 | MP0005275_abnormal_skin_tensile | 1.82801134 |
| 18 | MP0004858_abnormal_nervous_system | 1.77280875 |
| 19 | MP0003075_altered_response_to | 1.76546524 |
| 20 | MP0005023_abnormal_wound_healing | 1.75269202 |
| 21 | MP0002254_reproductive_system_inflammat | 1.67962143 |
| 22 | MP0010307_abnormal_tumor_latency | 1.58661871 |
| 23 | MP0010352_gastrointestinal_tract_polyps | 1.58519023 |
| 24 | MP0005623_abnormal_meninges_morphology | 1.57705160 |
| 25 | MP0004233_abnormal_muscle_weight | 1.57677651 |
| 26 | MP0006082_CNS_inflammation | 1.56929960 |
| 27 | MP0005257_abnormal_intraocular_pressure | 1.56702973 |
| 28 | MP0000858_altered_metastatic_potential | 1.55725613 |
| 29 | MP0000750_abnormal_muscle_regeneration | 1.55280799 |
| 30 | MP0000751_myopathy | 1.55077126 |
| 31 | MP0001533_abnormal_skeleton_physiology | 1.54440493 |
| 32 | MP0003191_abnormal_cellular_cholesterol | 1.50973773 |
| 33 | MP0000733_abnormal_muscle_development | 1.50045418 |
| 34 | MP0000604_amyloidosis | 1.49542990 |
| 35 | MP0009333_abnormal_splenocyte_physiolog | 1.45932708 |
| 36 | MP0000343_altered_response_to | 1.44180503 |
| 37 | MP0002419_abnormal_innate_immunity | 1.44109468 |
| 38 | MP0009785_altered_susceptibility_to | 1.43474294 |
| 39 | MP0003448_altered_tumor_morphology | 1.41094557 |
| 40 | MP0001929_abnormal_gametogenesis | 1.39851812 |
| 41 | MP0001958_emphysema | 1.35328176 |
| 42 | MP0004808_abnormal_hematopoietic_stem | 1.35125749 |
| 43 | MP0003329_amyloid_beta_deposits | 1.34129168 |
| 44 | MP0003698_abnormal_male_reproductive | 1.33408108 |
| 45 | MP0004947_skin_inflammation | 1.28709140 |
| 46 | MP0001835_abnormal_antigen_presentation | 1.27450179 |
| 47 | MP0002877_abnormal_melanocyte_morpholog | 1.26502562 |
| 48 | MP0002796_impaired_skin_barrier | 1.26377396 |
| 49 | MP0004510_myositis | 1.24936552 |
| 50 | MP0003091_abnormal_cell_migration | 1.24147444 |
| 51 | MP0005165_increased_susceptibility_to | 1.23654777 |
| 52 | MP0005670_abnormal_white_adipose | 1.21668260 |
| 53 | MP0002405_respiratory_system_inflammati | 1.19919031 |
| 54 | MP0005025_abnormal_response_to | 1.18662927 |
| 55 | MP0003724_increased_susceptibility_to | 1.17967610 |
| 56 | MP0002896_abnormal_bone_mineralization | 1.17718038 |
| 57 | MP0002148_abnormal_hypersensitivity_rea | 1.17601721 |
| 58 | MP0000678_abnormal_parathyroid_gland | 1.17359174 |
| 59 | MP0003693_abnormal_embryo_hatching | 1.16561037 |
| 60 | MP0005076_abnormal_cell_differentiation | 1.16156855 |
| 61 | MP0005464_abnormal_platelet_physiology | 1.15750711 |
| 62 | MP0000685_abnormal_immune_system | 1.15363792 |
| 63 | MP0009053_abnormal_anal_canal | 1.12891287 |
| 64 | MP0008007_abnormal_cellular_replicative | 1.12495495 |
| 65 | MP0005000_abnormal_immune_tolerance | 1.11760886 |
| 66 | MP0002060_abnormal_skin_morphology | 1.10465876 |
| 67 | MP0003646_muscle_fatigue | 1.09348442 |
| 68 | MP0006054_spinal_hemorrhage | 1.09260531 |
| 69 | MP0005390_skeleton_phenotype | 1.08130660 |
| 70 | MP0001853_heart_inflammation | 1.08081072 |
| 71 | MP0005595_abnormal_vascular_smooth | 1.06592573 |
| 72 | MP0001542_abnormal_bone_strength | 1.06132553 |
| 73 | MP0003172_abnormal_lysosome_physiology | 1.04420574 |
| 74 | MP0002295_abnormal_pulmonary_circulatio | 1.04024794 |
| 75 | MP0002452_abnormal_antigen_presenting | 1.03848564 |
| 76 | MP0005164_abnormal_response_to | 1.00192831 |
| 77 | MP0000767_abnormal_smooth_muscle | 0.99458932 |
| 78 | MP0000747_muscle_weakness | 0.98378500 |
| 79 | MP0005503_abnormal_tendon_morphology | 0.97533265 |
| 80 | MP0003828_pulmonary_edema | 0.97496221 |
| 81 | MP0000759_abnormal_skeletal_muscle | 0.96643468 |
| 82 | MP0002998_abnormal_bone_remodeling | 0.95760114 |
| 83 | MP0005501_abnormal_skin_physiology | 0.93824380 |
| 84 | MP0005409_darkened_coat_color | 0.92807530 |
| 85 | MP0009384_cardiac_valve_regurgitation | 0.92737370 |
| 86 | MP0003011_delayed_dark_adaptation | 0.92345922 |
| 87 | MP0003186_abnormal_redox_activity | 0.92110026 |
| 88 | MP0003300_gastrointestinal_ulcer | 0.91917799 |
| 89 | MP0001915_intracranial_hemorrhage | 0.91276074 |
| 90 | MP0005375_adipose_tissue_phenotype | 0.90741200 |
| 91 | MP0001845_abnormal_inflammatory_respons | 0.90176664 |
| 92 | MP0002723_abnormal_immune_serum | 0.90173984 |
| 93 | MP0003634_abnormal_glial_cell | 0.87943125 |
| 94 | MP0003453_abnormal_keratinocyte_physiol | 0.87274765 |
| 95 | MP0008469_abnormal_protein_level | 0.86951736 |
| 96 | MP0002210_abnormal_sex_determination | 0.85194093 |
| 97 | MP0001879_abnormal_lymphatic_vessel | 0.84284279 |
| 98 | MP0005166_decreased_susceptibility_to | 0.82391719 |
| 99 | MP0003950_abnormal_plasma_membrane | 0.82020721 |
| 100 | MP0000003_abnormal_adipose_tissue | 0.81726131 |
| 101 | MP0002332_abnormal_exercise_endurance | 0.81667797 |
| 102 | MP0002161_abnormal_fertility/fecundity | 0.80974096 |
| 103 | MP0001849_ear_inflammation | 0.80868816 |
| 104 | MP0002653_abnormal_ependyma_morphology | 0.80630515 |
| 105 | MP0001819_abnormal_immune_cell | 0.80515276 |
| 106 | MP0003941_abnormal_skin_development | 0.80383643 |
| 107 | MP0000358_abnormal_cell_content/ | 0.80193129 |
| 108 | MP0002420_abnormal_adaptive_immunity | 0.79180878 |
| 109 | MP0004084_abnormal_cardiac_muscle | 0.78997696 |
| 110 | MP0003795_abnormal_bone_structure | 0.78747659 |
| 111 | MP0003111_abnormal_nucleus_morphology | 0.78507090 |
| 112 | MP0005508_abnormal_skeleton_morphology | 0.77005640 |
| 113 | MP0005666_abnormal_adipose_tissue | 0.76717761 |
| 114 | MP0002933_joint_inflammation | 0.76120372 |
| 115 | MP0000490_abnormal_crypts_of | 0.75135212 |
| 116 | MP0003077_abnormal_cell_cycle | 0.75120565 |
| 117 | MP0005319_abnormal_enzyme/_coenzyme | 0.74931338 |
| 118 | MP0004272_abnormal_basement_membrane | 0.74908938 |
| 119 | MP0010234_abnormal_vibrissa_follicle | 0.74479523 |
| 120 | MP0001145_abnormal_male_reproductive | 0.74426137 |
| 121 | MP0004087_abnormal_muscle_fiber | 0.74022668 |
| 122 | MP0001243_abnormal_dermal_layer | 0.73878568 |
| 123 | MP0002282_abnormal_trachea_morphology | 0.73593823 |
| 124 | MP0002089_abnormal_postnatal_growth/wei | 0.73144173 |
| 125 | MP0002269_muscular_atrophy | 0.72143388 |
| 126 | MP0005167_abnormal_blood-brain_barrier | 0.72132822 |
| 127 | MP0001800_abnormal_humoral_immune | 0.72022144 |
| 128 | MP0005330_cardiomyopathy | 0.70972509 |
| 129 | MP0005197_abnormal_uvea_morphology | 0.70201977 |
| 130 | MP0001614_abnormal_blood_vessel | 0.69875832 |
| 131 | MP0001851_eye_inflammation | 0.69291351 |
| 132 | MP0000249_abnormal_blood_vessel | 0.68990364 |
| 133 | MP0001216_abnormal_epidermal_layer | 0.68611391 |
| 134 | MP0009764_decreased_sensitivity_to | 0.68491873 |
| 135 | MP0000689_abnormal_spleen_morphology | 0.67148630 |
| 136 | MP0004883_abnormal_blood_vessel | 0.66945409 |
| 137 | MP0004185_abnormal_adipocyte_glucose | 0.66504979 |
| 138 | MP0000749_muscle_degeneration | 0.66480320 |
| 139 | MP0002398_abnormal_bone_marrow | 0.65887407 |
| 140 | MP0010155_abnormal_intestine_physiology | 0.65872994 |
| 141 | MP0000681_abnormal_thyroid_gland | 0.65677722 |
| 142 | MP0000598_abnormal_liver_morphology | 0.65565398 |
| 143 | MP0000716_abnormal_immune_system | 0.65544306 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormality of glycolipid metabolism (HP:0010969) | 4.74161210 |
| 2 | Abnormality of liposaccharide metabolism (HP:0010968) | 4.74161210 |
| 3 | Premature rupture of membranes (HP:0001788) | 4.69062812 |
| 4 | Protrusio acetabuli (HP:0003179) | 4.52650191 |
| 5 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.33963755 |
| 6 | Nasal polyposis (HP:0100582) | 4.33395204 |
| 7 | Abnormality of the nasal mucosa (HP:0000433) | 3.90169260 |
| 8 | Difficulty climbing stairs (HP:0003551) | 3.81788519 |
| 9 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 3.67788213 |
| 10 | Absent/shortened dynein arms (HP:0200106) | 3.67788213 |
| 11 | Eczematoid dermatitis (HP:0000976) | 3.64069812 |
| 12 | Peritonitis (HP:0002586) | 3.46059329 |
| 13 | Distal lower limb muscle weakness (HP:0009053) | 3.37086601 |
| 14 | Osteolytic defects of the hand bones (HP:0009699) | 3.30567260 |
| 15 | Osteolytic defects of the phalanges of the hand (HP:0009771) | 3.30567260 |
| 16 | Recurrent abscess formation (HP:0002722) | 3.13337909 |
| 17 | Increased connective tissue (HP:0009025) | 3.11936083 |
| 18 | Ankle contracture (HP:0006466) | 3.09895177 |
| 19 | Cerebral aneurysm (HP:0004944) | 3.06417164 |
| 20 | Vertebral compression fractures (HP:0002953) | 3.05929366 |
| 21 | Cervical subluxation (HP:0003308) | 3.04469468 |
| 22 | Short nail (HP:0001799) | 2.95715344 |
| 23 | Recurrent bacterial skin infections (HP:0005406) | 2.95400766 |
| 24 | Recurrent gram-negative bacterial infections (HP:0005420) | 2.93318350 |
| 25 | Nuclear cataract (HP:0100018) | 2.81446827 |
| 26 | Abnormality of polysaccharide metabolism (HP:0011012) | 2.77596735 |
| 27 | Abnormality of glycosaminoglycan metabolism (HP:0004371) | 2.77596735 |
| 28 | Abnormality of mucopolysaccharide metabolism (HP:0011020) | 2.77596735 |
| 29 | Increased variability in muscle fiber diameter (HP:0003557) | 2.66123238 |
| 30 | Infertility (HP:0000789) | 2.65230836 |
| 31 | Urinary glycosaminoglycan excretion (HP:0003541) | 2.64822755 |
| 32 | Mucopolysacchariduria (HP:0008155) | 2.64822755 |
| 33 | Ulnar deviation of the wrist (HP:0003049) | 2.61728202 |
| 34 | Systemic lupus erythematosus (HP:0002725) | 2.53352447 |
| 35 | Neurofibrillary tangles (HP:0002185) | 2.52475652 |
| 36 | Male infertility (HP:0003251) | 2.52221707 |
| 37 | Distal lower limb amyotrophy (HP:0008944) | 2.51789008 |
| 38 | Rhinitis (HP:0012384) | 2.51296597 |
| 39 | Upper motor neuron abnormality (HP:0002127) | 2.49872206 |
| 40 | Abnormality of skeletal muscle fiber size (HP:0012084) | 2.47876010 |
| 41 | Myocardial infarction (HP:0001658) | 2.45557294 |
| 42 | Muscle fiber splitting (HP:0003555) | 2.45460326 |
| 43 | Increased cerebral lipofuscin (HP:0011813) | 2.42595662 |
| 44 | Asymmetric septal hypertrophy (HP:0001670) | 2.42471044 |
| 45 | Abnormality of the Achilles tendon (HP:0005109) | 2.36049009 |
| 46 | Abnormal respiratory motile cilium physiology (HP:0012261) | 2.35483118 |
| 47 | Upper limb amyotrophy (HP:0009129) | 2.33799551 |
| 48 | Distal upper limb amyotrophy (HP:0007149) | 2.33799551 |
| 49 | Abnormal respiratory motile cilium morphology (HP:0005938) | 2.33556075 |
| 50 | Abnormal respiratory epithelium morphology (HP:0012253) | 2.33556075 |
| 51 | Vascular tortuosity (HP:0004948) | 2.32972568 |
| 52 | Chronic bronchitis (HP:0004469) | 2.30403149 |
| 53 | Hand muscle atrophy (HP:0009130) | 2.29463072 |
| 54 | Slender build (HP:0001533) | 2.26903490 |
| 55 | Axonal loss (HP:0003447) | 2.24935111 |
| 56 | Tetraparesis (HP:0002273) | 2.23201640 |
| 57 | Elevated erythrocyte sedimentation rate (HP:0003565) | 2.22362588 |
| 58 | Spinal rigidity (HP:0003306) | 2.21536960 |
| 59 | Cerebral inclusion bodies (HP:0100314) | 2.21357541 |
| 60 | Alopecia of scalp (HP:0002293) | 2.19496409 |
| 61 | Arterial tortuosity (HP:0005116) | 2.19431671 |
| 62 | Myositis (HP:0100614) | 2.19116294 |
| 63 | Soft skin (HP:0000977) | 2.17191362 |
| 64 | Abnormality of macrophages (HP:0004311) | 2.16564437 |
| 65 | Trismus (HP:0000211) | 2.15776376 |
| 66 | Pustule (HP:0200039) | 2.14928648 |
| 67 | Aortic dissection (HP:0002647) | 2.13535757 |
| 68 | Spondylolisthesis (HP:0003302) | 2.11823959 |
| 69 | Dilatation of the ascending aorta (HP:0005111) | 2.09774226 |
| 70 | Abnormality of the distal phalanges of the toes (HP:0010182) | 2.09576257 |
| 71 | Genu recurvatum (HP:0002816) | 2.08883268 |
| 72 | Stridor (HP:0010307) | 2.07526530 |
| 73 | Centrally nucleated skeletal muscle fibers (HP:0003687) | 2.07385870 |
| 74 | Atrophic scars (HP:0001075) | 2.06047000 |
| 75 | Biconcave vertebral bodies (HP:0004586) | 2.02997558 |
| 76 | Shallow orbits (HP:0000586) | 2.02908649 |
| 77 | Hyperacusis (HP:0010780) | 2.02858317 |
| 78 | Type 1 muscle fiber predominance (HP:0003803) | 2.02814120 |
| 79 | Selective tooth agenesis (HP:0001592) | 2.02808422 |
| 80 | Mildly elevated creatine phosphokinase (HP:0008180) | 2.02173215 |
| 81 | Amyloidosis (HP:0011034) | 2.01858091 |
| 82 | Degeneration of anterior horn cells (HP:0002398) | 2.00896609 |
| 83 | Abnormality of the anterior horn cell (HP:0006802) | 2.00896609 |
| 84 | Thrombocytosis (HP:0001894) | 2.00827345 |
| 85 | Mitral regurgitation (HP:0001653) | 2.00369451 |
| 86 | Bladder diverticulum (HP:0000015) | 1.99832330 |
| 87 | Bulbar palsy (HP:0001283) | 1.98352346 |
| 88 | Fragile skin (HP:0001030) | 1.95210607 |
| 89 | Increased neuronal autofluorescent lipopigment (HP:0002074) | 1.94098055 |
| 90 | Prolonged neonatal jaundice (HP:0006579) | 1.92791653 |
| 91 | Natal tooth (HP:0000695) | 1.91936862 |
| 92 | Vacuolated lymphocytes (HP:0001922) | 1.91707968 |
| 93 | Thin bony cortex (HP:0002753) | 1.90529004 |
| 94 | Polycythemia (HP:0001901) | 1.89896804 |
| 95 | Progressive neurologic deterioration (HP:0002344) | 1.89504558 |
| 96 | Abnormality of the acetabulum (HP:0003170) | 1.88780194 |
| 97 | Aortic aneurysm (HP:0004942) | 1.88484383 |
| 98 | Orchitis (HP:0100796) | 1.85245481 |
| 99 | Wrist flexion contracture (HP:0001239) | 1.85080999 |
| 100 | Deformed sella turcica (HP:0002681) | 1.84243506 |
| 101 | Bronchitis (HP:0012387) | 1.83044248 |
| 102 | Disproportionate tall stature (HP:0001519) | 1.81929285 |
| 103 | Increased density of long bones (HP:0006392) | 1.81834204 |
| 104 | Abnormal delivery (HP:0001787) | 1.80459842 |
| 105 | Pathologic fracture (HP:0002756) | 1.79400142 |
| 106 | Long toe (HP:0010511) | 1.79064134 |
| 107 | Interstitial pulmonary disease (HP:0006530) | 1.78963177 |
| 108 | Achilles tendon contracture (HP:0001771) | 1.78773719 |
| 109 | Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204) | 1.78431464 |
| 110 | Nephritis (HP:0000123) | 1.77483251 |
| 111 | Abnormality of the umbilical cord (HP:0010881) | 1.77475700 |
| 112 | Dysostosis multiplex (HP:0000943) | 1.76540690 |
| 113 | Generalized amyotrophy (HP:0003700) | 1.75708545 |
| 114 | Congenital glaucoma (HP:0001087) | 1.75426400 |
| 115 | J-shaped sella turcica (HP:0002680) | 1.74960709 |
| 116 | Apathy (HP:0000741) | 1.74825014 |
| 117 | Difficulty running (HP:0009046) | 1.74707986 |
| 118 | Supranuclear gaze palsy (HP:0000605) | 1.73997491 |
| 119 | Elbow flexion contracture (HP:0002987) | 1.73503137 |
| 120 | Joint stiffness (HP:0001387) | 1.72869133 |
| 121 | Personality changes (HP:0000751) | 1.72691355 |
| 122 | Abnormality of dentin (HP:0010299) | 1.72226583 |
| 123 | Reduced subcutaneous adipose tissue (HP:0003758) | 1.71991885 |
| 124 | Mitral stenosis (HP:0001718) | 1.71901201 |
| 125 | Multiple enchondromatosis (HP:0005701) | 1.71755094 |
| 126 | Diminished motivation (HP:0000745) | 1.71593117 |
| 127 | Lower limb amyotrophy (HP:0007210) | 1.71217875 |
| 128 | Easy fatigability (HP:0003388) | 1.71095946 |
| 129 | Aneurysm (HP:0002617) | 1.71005570 |
| 130 | Muscle fiber cytoplasmatic inclusion bodies (HP:0100303) | 1.70656514 |
| 131 | Bone pain (HP:0002653) | 1.68195864 |
| 132 | Wormian bones (HP:0002645) | 1.67756140 |
| 133 | Entropion (HP:0000621) | 1.67608612 |
| 134 | Distal arthrogryposis (HP:0005684) | 1.66627760 |
| 135 | Abnormality of the calcaneus (HP:0008364) | 1.66597426 |
| 136 | Blue sclerae (HP:0000592) | 1.66201505 |
| 137 | Hemorrhage of the eye (HP:0011885) | 1.66070520 |
| 138 | Ulnar bowing (HP:0003031) | 1.65641325 |
| 139 | Fatigue (HP:0012378) | 1.65488578 |
| 140 | Global brain atrophy (HP:0002283) | 1.65088764 |
| 141 | Disinhibition (HP:0000734) | 1.64725399 |
| 142 | Loss of speech (HP:0002371) | 1.64565859 |
| 143 | Nonimmune hydrops fetalis (HP:0001790) | 1.64531180 |
| 144 | Gingivitis (HP:0000230) | 1.64450228 |
| 145 | Abnormality of glycosphingolipid metabolism (HP:0004343) | 1.64438937 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TESK1 | 4.42778933 |
| 2 | PDK4 | 3.63695945 |
| 3 | PDK3 | 3.63695945 |
| 4 | TRIB3 | 3.56722902 |
| 5 | ERN1 | 2.99104617 |
| 6 | PDK2 | 2.70877569 |
| 7 | PIM2 | 2.47829144 |
| 8 | TTN | 2.43817153 |
| 9 | SMG1 | 2.28431771 |
| 10 | NME2 | 2.20987592 |
| 11 | PKN2 | 2.17948907 |
| 12 | RPS6KA4 | 2.12111792 |
| 13 | PRPF4B | 2.11368545 |
| 14 | NEK2 | 2.09464326 |
| 15 | LIMK1 | 1.92035873 |
| 16 | ICK | 1.90376722 |
| 17 | EPHB2 | 1.86246665 |
| 18 | PRKD3 | 1.82677485 |
| 19 | TBK1 | 1.82349484 |
| 20 | MAP2K3 | 1.77791863 |
| 21 | MAP3K3 | 1.74883583 |
| 22 | PAK4 | 1.73108433 |
| 23 | TESK2 | 1.43073805 |
| 24 | TIE1 | 1.40963442 |
| 25 | EEF2K | 1.38316597 |
| 26 | MAP3K11 | 1.35135428 |
| 27 | PTK2B | 1.33897005 |
| 28 | BMX | 1.30785446 |
| 29 | RIPK4 | 1.28162695 |
| 30 | PRKD2 | 1.26689926 |
| 31 | LMTK2 | 1.24073468 |
| 32 | TYK2 | 1.21667652 |
| 33 | MAP3K10 | 1.20131481 |
| 34 | RIPK1 | 1.16113067 |
| 35 | STK10 | 1.15758221 |
| 36 | STK3 | 1.15526925 |
| 37 | DYRK1B | 1.13123273 |
| 38 | EPHA2 | 1.11991759 |
| 39 | NTRK1 | 1.11336332 |
| 40 | MAP4K1 | 1.10912118 |
| 41 | LRRK2 | 1.09059803 |
| 42 | PIM1 | 1.08846746 |
| 43 | MAP3K1 | 1.08759841 |
| 44 | MYLK | 1.07611387 |
| 45 | TGFBR2 | 1.07487943 |
| 46 | CDC42BPA | 1.07264783 |
| 47 | KDR | 1.06926688 |
| 48 | BUB1 | 1.06540707 |
| 49 | DDR2 | 1.05783420 |
| 50 | RPS6KA2 | 1.04612655 |
| 51 | KIT | 1.04235628 |
| 52 | MAPKAPK3 | 0.99838832 |
| 53 | MARK3 | 0.99185268 |
| 54 | MOS | 0.99095954 |
| 55 | ZAP70 | 0.97652791 |
| 56 | BLK | 0.96999789 |
| 57 | LATS2 | 0.96914106 |
| 58 | TAOK1 | 0.91405117 |
| 59 | PAK2 | 0.90729589 |
| 60 | BRAF | 0.88290765 |
| 61 | ABL2 | 0.87608268 |
| 62 | DYRK3 | 0.86943612 |
| 63 | IRAK4 | 0.86704698 |
| 64 | MST1R | 0.84741573 |
| 65 | WEE1 | 0.83845159 |
| 66 | PTK6 | 0.83358179 |
| 67 | MAP3K6 | 0.83152921 |
| 68 | PAK1 | 0.82562450 |
| 69 | MAP3K8 | 0.81616048 |
| 70 | IKBKB | 0.80786199 |
| 71 | JAK3 | 0.79173166 |
| 72 | EPHB1 | 0.77617673 |
| 73 | NEK9 | 0.77429588 |
| 74 | TRPM7 | 0.76026383 |
| 75 | STK16 | 0.72740003 |
| 76 | MAP3K5 | 0.72720339 |
| 77 | PBK | 0.71591993 |
| 78 | TAOK2 | 0.71481089 |
| 79 | KSR2 | 0.71248389 |
| 80 | ARAF | 0.71103503 |
| 81 | IRAK2 | 0.70085071 |
| 82 | CSK | 0.69349902 |
| 83 | STK38 | 0.66844706 |
| 84 | MTOR | 0.65362188 |
| 85 | ROCK2 | 0.65102998 |
| 86 | MAP3K14 | 0.64878138 |
| 87 | SCYL2 | 0.64396243 |
| 88 | FGR | 0.63579572 |
| 89 | ERBB4 | 0.63073946 |
| 90 | MARK2 | 0.63019246 |
| 91 | MAP3K13 | 0.60437467 |
| 92 | PDGFRA | 0.58821825 |
| 93 | TTK | 0.57612705 |
| 94 | DMPK | 0.57397561 |
| 95 | CDK4 | 0.56835593 |
| 96 | IRAK3 | 0.56805959 |
| 97 | MET | 0.56016323 |
| 98 | CDK6 | 0.54560479 |
| 99 | ILK | 0.53669513 |
| 100 | CSF1R | 0.52490907 |
| 101 | MATK | 0.52481321 |
| 102 | MAP2K2 | 0.51546433 |
| 103 | PDPK1 | 0.49186793 |
| 104 | PTK2 | 0.47759548 |
| 105 | PDK1 | 0.47584554 |
| 106 | PAK6 | 0.47278475 |
| 107 | FLT3 | 0.47089175 |
| 108 | DAPK3 | 0.46784762 |
| 109 | GRK7 | 0.46365316 |
| 110 | CHUK | 0.46165472 |
| 111 | GSK3A | 0.44997833 |
| 112 | PRKG2 | 0.44129748 |
| 113 | PIK3CG | 0.43667098 |
| 114 | CAMK2G | 0.43023727 |
| 115 | CAMK1D | 0.40505046 |
| 116 | MAPKAPK2 | 0.39358687 |
| 117 | PDGFRB | 0.38586473 |
| 118 | EIF2AK3 | 0.37990657 |
| 119 | IKBKE | 0.37766701 |
| 120 | HCK | 0.36665738 |
| 121 | ROCK1 | 0.36548445 |
| 122 | RPS6KA6 | 0.36108401 |
| 123 | NEK1 | 0.36037280 |
| 124 | PRKD1 | 0.35707147 |
| 125 | BCKDK | 0.35048919 |
| 126 | BRSK2 | 0.34669171 |
| 127 | SIK1 | 0.34020556 |
| 128 | JAK1 | 0.33187036 |
| 129 | PLK1 | 0.32836875 |
| 130 | EIF2AK1 | 0.30898891 |
| 131 | MAPK12 | 0.28412571 |
| 132 | LATS1 | 0.27841940 |
| 133 | AKT2 | 0.27821024 |
| 134 | RPS6KC1 | 0.27793643 |
| 135 | RPS6KL1 | 0.27793643 |
| 136 | AURKA | 0.27661170 |
| 137 | MAPK4 | 0.27131133 |
| 138 | MAPK7 | 0.26321310 |
| 139 | FGFR4 | 0.24428488 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 2.75042429 |
| 2 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 2.28840985 |
| 3 | Legionellosis_Homo sapiens_hsa05134 | 2.21225743 |
| 4 | Leishmaniasis_Homo sapiens_hsa05140 | 2.10666440 |
| 5 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.94221582 |
| 6 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 1.81409310 |
| 7 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 1.75454577 |
| 8 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.69214630 |
| 9 | Lysosome_Homo sapiens_hsa04142 | 1.68127850 |
| 10 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 1.64029461 |
| 11 | Prion diseases_Homo sapiens_hsa05020 | 1.62769800 |
| 12 | Malaria_Homo sapiens_hsa05144 | 1.61880352 |
| 13 | Shigellosis_Homo sapiens_hsa05131 | 1.59752787 |
| 14 | Osteoclast differentiation_Homo sapiens_hsa04380 | 1.56367936 |
| 15 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.51658282 |
| 16 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 1.49751797 |
| 17 | p53 signaling pathway_Homo sapiens_hsa04115 | 1.45621422 |
| 18 | Toxoplasmosis_Homo sapiens_hsa05145 | 1.44199353 |
| 19 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 1.41712968 |
| 20 | Toll-like receptor signaling pathway_Homo sapiens_hsa04620 | 1.38800046 |
| 21 | Notch signaling pathway_Homo sapiens_hsa04330 | 1.35907785 |
| 22 | Tuberculosis_Homo sapiens_hsa05152 | 1.35876861 |
| 23 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.34270773 |
| 24 | Salmonella infection_Homo sapiens_hsa05132 | 1.34064661 |
| 25 | Apoptosis_Homo sapiens_hsa04210 | 1.33108681 |
| 26 | TNF signaling pathway_Homo sapiens_hsa04668 | 1.32051251 |
| 27 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.31631673 |
| 28 | Proteasome_Homo sapiens_hsa03050 | 1.24474556 |
| 29 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 1.23829531 |
| 30 | Other glycan degradation_Homo sapiens_hsa00511 | 1.21588098 |
| 31 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 1.21547830 |
| 32 | Phagosome_Homo sapiens_hsa04145 | 1.20883390 |
| 33 | Measles_Homo sapiens_hsa05162 | 1.20877936 |
| 34 | Influenza A_Homo sapiens_hsa05164 | 1.20051241 |
| 35 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 1.19228631 |
| 36 | Sulfur relay system_Homo sapiens_hsa04122 | 1.18347018 |
| 37 | RNA transport_Homo sapiens_hsa03013 | 1.18279296 |
| 38 | Small cell lung cancer_Homo sapiens_hsa05222 | 1.18173014 |
| 39 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 1.16117095 |
| 40 | Amoebiasis_Homo sapiens_hsa05146 | 1.15357687 |
| 41 | Pertussis_Homo sapiens_hsa05133 | 1.14173357 |
| 42 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 1.11977529 |
| 43 | Bladder cancer_Homo sapiens_hsa05219 | 1.11169649 |
| 44 | Herpes simplex infection_Homo sapiens_hsa05168 | 1.09892582 |
| 45 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 1.08455665 |
| 46 | ECM-receptor interaction_Homo sapiens_hsa04512 | 1.07110814 |
| 47 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.04844296 |
| 48 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.03989905 |
| 49 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.03536170 |
| 50 | Pancreatic cancer_Homo sapiens_hsa05212 | 1.03234710 |
| 51 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.01603538 |
| 52 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 1.01206364 |
| 53 | Focal adhesion_Homo sapiens_hsa04510 | 0.98709377 |
| 54 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.98279115 |
| 55 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.95865309 |
| 56 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.94250498 |
| 57 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.92677815 |
| 58 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.92267516 |
| 59 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.92029127 |
| 60 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 0.91831039 |
| 61 | Carbon metabolism_Homo sapiens_hsa01200 | 0.91329814 |
| 62 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.91012879 |
| 63 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.90342228 |
| 64 | Renal cell carcinoma_Homo sapiens_hsa05211 | 0.90006384 |
| 65 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 0.88795578 |
| 66 | Viral myocarditis_Homo sapiens_hsa05416 | 0.88636148 |
| 67 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.88104759 |
| 68 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.87098901 |
| 69 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.84464904 |
| 70 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 0.84014132 |
| 71 | RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622 | 0.81719649 |
| 72 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 0.79781731 |
| 73 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.79773188 |
| 74 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 0.79224324 |
| 75 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.78565520 |
| 76 | Hepatitis C_Homo sapiens_hsa05160 | 0.78185503 |
| 77 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.77814843 |
| 78 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.77457375 |
| 79 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.76251874 |
| 80 | HTLV-I infection_Homo sapiens_hsa05166 | 0.75937509 |
| 81 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.75903246 |
| 82 | Hepatitis B_Homo sapiens_hsa05161 | 0.75569522 |
| 83 | Chagas disease (American trypanosomiasis)_Homo sapiens_hsa05142 | 0.74202808 |
| 84 | Galactose metabolism_Homo sapiens_hsa00052 | 0.73922831 |
| 85 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.73307386 |
| 86 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.73260144 |
| 87 | Cell cycle_Homo sapiens_hsa04110 | 0.72545638 |
| 88 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.71930374 |
| 89 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.69305695 |
| 90 | Endometrial cancer_Homo sapiens_hsa05213 | 0.68617754 |
| 91 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.68461949 |
| 92 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.67434178 |
| 93 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.67218529 |
| 94 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.66342443 |
| 95 | Thyroid cancer_Homo sapiens_hsa05216 | 0.65191351 |
| 96 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.64986876 |
| 97 | Endocytosis_Homo sapiens_hsa04144 | 0.64513086 |
| 98 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.64176911 |
| 99 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.64033325 |
| 100 | DNA replication_Homo sapiens_hsa03030 | 0.63982399 |
| 101 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.63137300 |
| 102 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.62381665 |
| 103 | Glioma_Homo sapiens_hsa05214 | 0.60967151 |
| 104 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 0.60705534 |
| 105 | Base excision repair_Homo sapiens_hsa03410 | 0.59694057 |
| 106 | Adherens junction_Homo sapiens_hsa04520 | 0.59475320 |
| 107 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.59065303 |
| 108 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.58874749 |
| 109 | Mineral absorption_Homo sapiens_hsa04978 | 0.55688219 |
| 110 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.54544587 |
| 111 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 0.54369013 |
| 112 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.54203189 |
| 113 | Pathways in cancer_Homo sapiens_hsa05200 | 0.53525630 |
| 114 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.53470742 |
| 115 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.53054966 |
| 116 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.52978121 |
| 117 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 0.52895176 |
| 118 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.52667072 |
| 119 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.52011669 |
| 120 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.51430078 |
| 121 | Insulin resistance_Homo sapiens_hsa04931 | 0.51257508 |
| 122 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 0.50285917 |
| 123 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.49729331 |
| 124 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.48921069 |
| 125 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 0.47914274 |
| 126 | Asthma_Homo sapiens_hsa05310 | 0.47556774 |
| 127 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.45935540 |
| 128 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.45332990 |
| 129 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.44926336 |
| 130 | Basal transcription factors_Homo sapiens_hsa03022 | 0.44234781 |
| 131 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 0.43833196 |
| 132 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.43289754 |
| 133 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.43265741 |
| 134 | Fc epsilon RI signaling pathway_Homo sapiens_hsa04664 | 0.43137250 |
| 135 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.43077035 |
| 136 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 0.42773010 |

