

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | fusion of sperm to egg plasma membrane (GO:0007342) | 5.14474224 |
| 2 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.74793562 |
| 3 | sperm-egg recognition (GO:0035036) | 4.70071594 |
| 4 | nuclear pore complex assembly (GO:0051292) | 4.64546070 |
| 5 | binding of sperm to zona pellucida (GO:0007339) | 4.64325244 |
| 6 | nuclear pore organization (GO:0006999) | 4.26410555 |
| 7 | sperm motility (GO:0030317) | 4.20994748 |
| 8 | acrosome assembly (GO:0001675) | 4.19304782 |
| 9 | cell-cell recognition (GO:0009988) | 4.14862129 |
| 10 | piRNA metabolic process (GO:0034587) | 4.05300454 |
| 11 | synaptonemal complex assembly (GO:0007130) | 4.03144754 |
| 12 | multicellular organism reproduction (GO:0032504) | 3.98164961 |
| 13 | synaptonemal complex organization (GO:0070193) | 3.85786724 |
| 14 | negative regulation of DNA repair (GO:0045738) | 3.81666855 |
| 15 | cell wall macromolecule metabolic process (GO:0044036) | 3.79825168 |
| 16 | cell wall macromolecule catabolic process (GO:0016998) | 3.79825168 |
| 17 | negative regulation of chondrocyte differentiation (GO:0032331) | 3.75589157 |
| 18 | plasma membrane fusion (GO:0045026) | 3.74059066 |
| 19 | mitotic sister chromatid cohesion (GO:0007064) | 3.71441723 |
| 20 | heterochromatin organization (GO:0070828) | 3.68699042 |
| 21 | paraxial mesoderm development (GO:0048339) | 3.67501763 |
| 22 | regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091 | 3.66545589 |
| 23 | male meiosis (GO:0007140) | 3.66507085 |
| 24 | hippo signaling (GO:0035329) | 3.50746433 |
| 25 | spermatid development (GO:0007286) | 3.48145563 |
| 26 | endothelial cell morphogenesis (GO:0001886) | 3.47098036 |
| 27 | retina vasculature morphogenesis in camera-type eye (GO:0061299) | 3.46185296 |
| 28 | substrate-dependent cell migration (GO:0006929) | 3.45797713 |
| 29 | lymphangiogenesis (GO:0001946) | 3.43995690 |
| 30 | pore complex assembly (GO:0046931) | 3.42495683 |
| 31 | reproduction (GO:0000003) | 3.38048280 |
| 32 | chondrocyte proliferation (GO:0035988) | 3.37731639 |
| 33 | mesenchymal-epithelial cell signaling (GO:0060638) | 3.30013400 |
| 34 | bone trabecula formation (GO:0060346) | 3.24966131 |
| 35 | regulation of hippo signaling (GO:0035330) | 3.24731260 |
| 36 | cell adhesion mediated by integrin (GO:0033627) | 3.21199166 |
| 37 | axonemal dynein complex assembly (GO:0070286) | 3.16273672 |
| 38 | kidney mesenchyme development (GO:0072074) | 3.13823778 |
| 39 | monoubiquitinated protein deubiquitination (GO:0035520) | 3.11104627 |
| 40 | regulation of centriole replication (GO:0046599) | 3.08083533 |
| 41 | establishment of apical/basal cell polarity (GO:0035089) | 3.07700499 |
| 42 | genitalia morphogenesis (GO:0035112) | 3.06559396 |
| 43 | regulation of SMAD protein import into nucleus (GO:0060390) | 3.05728740 |
| 44 | epithelial cilium movement (GO:0003351) | 3.02190343 |
| 45 | positive regulation of macrophage activation (GO:0043032) | 2.97851023 |
| 46 | notochord development (GO:0030903) | 2.97845285 |
| 47 | endodermal cell differentiation (GO:0035987) | 2.97818643 |
| 48 | positive regulation of SMAD protein import into nucleus (GO:0060391) | 2.96411008 |
| 49 | gene silencing by RNA (GO:0031047) | 2.96105967 |
| 50 | artery development (GO:0060840) | 2.94805916 |
| 51 | basement membrane organization (GO:0071711) | 2.92572105 |
| 52 | substrate adhesion-dependent cell spreading (GO:0034446) | 2.92099217 |
| 53 | chromosome organization involved in meiosis (GO:0070192) | 2.91433442 |
| 54 | cellular response to vitamin (GO:0071295) | 2.90160210 |
| 55 | chromosome condensation (GO:0030261) | 2.90120014 |
| 56 | motile cilium assembly (GO:0044458) | 2.90106390 |
| 57 | collagen fibril organization (GO:0030199) | 2.89163609 |
| 58 | regulation of transforming growth factor beta2 production (GO:0032909) | 2.86826055 |
| 59 | polarized epithelial cell differentiation (GO:0030859) | 2.86550426 |
| 60 | cellular response to vitamin D (GO:0071305) | 2.86194006 |
| 61 | collagen metabolic process (GO:0032963) | 2.85208348 |
| 62 | chaperone-mediated protein complex assembly (GO:0051131) | 2.83879936 |
| 63 | negative regulation of axon extension involved in axon guidance (GO:0048843) | 2.83138792 |
| 64 | acrosome reaction (GO:0007340) | 2.82979979 |
| 65 | maintenance of protein localization in endoplasmic reticulum (GO:0035437) | 2.82341758 |
| 66 | regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307) | 2.82183741 |
| 67 | anterior/posterior axis specification, embryo (GO:0008595) | 2.81054611 |
| 68 | metanephric mesenchyme development (GO:0072075) | 2.79908647 |
| 69 | regulation of vascular endothelial growth factor signaling pathway (GO:1900746) | 2.79343961 |
| 70 | ventricular cardiac muscle cell development (GO:0055015) | 2.78911114 |
| 71 | cell migration involved in heart development (GO:0060973) | 2.77903656 |
| 72 | COPI coating of Golgi vesicle (GO:0048205) | 2.77023209 |
| 73 | Golgi transport vesicle coating (GO:0048200) | 2.77023209 |
| 74 | Wnt signaling pathway, planar cell polarity pathway (GO:0060071) | 2.75824013 |
| 75 | DNA replication-dependent nucleosome organization (GO:0034723) | 2.75518027 |
| 76 | DNA replication-dependent nucleosome assembly (GO:0006335) | 2.75518027 |
| 77 | convergent extension (GO:0060026) | 2.75420270 |
| 78 | dichotomous subdivision of an epithelial terminal unit (GO:0060600) | 2.73040056 |
| 79 | morphogenesis of an endothelium (GO:0003159) | 2.72948435 |
| 80 | endothelial tube morphogenesis (GO:0061154) | 2.72948435 |
| 81 | sequestering of extracellular ligand from receptor (GO:0035581) | 2.72362018 |
| 82 | collagen catabolic process (GO:0030574) | 2.71356540 |
| 83 | regulation of posttranscriptional gene silencing (GO:0060147) | 2.70582308 |
| 84 | regulation of gene silencing by miRNA (GO:0060964) | 2.70582308 |
| 85 | regulation of gene silencing by RNA (GO:0060966) | 2.70582308 |
| 86 | negative regulation of cell fate specification (GO:0009996) | 2.69644593 |
| 87 | planar cell polarity pathway involved in neural tube closure (GO:0090179) | 2.69193535 |
| 88 | regulation of establishment of planar polarity (GO:0090175) | 2.67328100 |
| 89 | multicellular organismal macromolecule metabolic process (GO:0044259) | 2.67007440 |
| 90 | cell migration involved in sprouting angiogenesis (GO:0002042) | 2.66251587 |
| 91 | skin morphogenesis (GO:0043589) | 2.66076655 |
| 92 | mitotic nuclear envelope disassembly (GO:0007077) | 2.65487315 |
| 93 | axon extension involved in axon guidance (GO:0048846) | 2.64413840 |
| 94 | neuron projection extension involved in neuron projection guidance (GO:1902284) | 2.64413840 |
| 95 | wound healing, spreading of epidermal cells (GO:0035313) | 2.63385035 |
| 96 | DNA packaging (GO:0006323) | 2.62888112 |
| 97 | renal system development (GO:0072001) | 2.62872181 |
| 98 | endocardial cushion development (GO:0003197) | 2.62745700 |
| 99 | heparan sulfate proteoglycan biosynthetic process (GO:0015012) | 2.61644090 |
| 100 | regulation of establishment of planar polarity involved in neural tube closure (GO:0090178) | 2.61128216 |
| 101 | regulation of protein polyubiquitination (GO:1902914) | 2.60629068 |
| 102 | protein localization to chromosome, centromeric region (GO:0071459) | 2.60228013 |
| 103 | protein retention in ER lumen (GO:0006621) | 2.59135047 |
| 104 | G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199 | 2.59058038 |
| 105 | positive regulation of endothelial cell apoptotic process (GO:2000353) | 2.58997080 |
| 106 | negative regulation of cartilage development (GO:0061037) | 2.58443273 |
| 107 | muscle cell migration (GO:0014812) | 2.58222845 |
| 108 | protein heterotrimerization (GO:0070208) | 2.56563502 |
| 109 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 2.55622584 |
| 110 | microtubule depolymerization (GO:0007019) | 2.55302666 |
| 111 | wound healing, spreading of cells (GO:0044319) | 2.55176245 |
| 112 | positive regulation of osteoblast proliferation (GO:0033690) | 2.54847566 |
| 113 | hemidesmosome assembly (GO:0031581) | 2.54819294 |
| 114 | regulation of RNA export from nucleus (GO:0046831) | 2.54291088 |
| 115 | blood vessel maturation (GO:0001955) | 2.53569060 |
| 116 | single fertilization (GO:0007338) | 2.53339684 |
| 117 | glomerular visceral epithelial cell development (GO:0072015) | 2.53014722 |
| 118 | cell-substrate junction assembly (GO:0007044) | 2.52963829 |
| 119 | membrane disassembly (GO:0030397) | 2.52875709 |
| 120 | nuclear envelope disassembly (GO:0051081) | 2.52875709 |
| 121 | mRNA stabilization (GO:0048255) | 2.52457711 |
| 122 | RNA stabilization (GO:0043489) | 2.52457711 |
| 123 | establishment of tissue polarity (GO:0007164) | 2.51800520 |
| 124 | establishment of planar polarity (GO:0001736) | 2.51800520 |
| 125 | negative regulation of stem cell proliferation (GO:2000647) | 2.51179840 |
| 126 | cochlea morphogenesis (GO:0090103) | 2.50730622 |
| 127 | regulation of branching involved in salivary gland morphogenesis (GO:0060693) | 2.50042327 |
| 128 | multicellular organismal metabolic process (GO:0044236) | 2.49831898 |
| 129 | regulation of Wnt signaling pathway involved in heart development (GO:0003307) | 2.49142224 |
| 130 | NLS-bearing protein import into nucleus (GO:0006607) | 2.48592758 |
| 131 | establishment of monopolar cell polarity (GO:0061162) | 2.48078706 |
| 132 | establishment or maintenance of monopolar cell polarity (GO:0061339) | 2.48078706 |
| 133 | extracellular matrix disassembly (GO:0022617) | 2.47871581 |
| 134 | peptidyl-proline hydroxylation (GO:0019511) | 2.47558285 |
| 135 | vascular endothelial growth factor signaling pathway (GO:0038084) | 2.47383100 |
| 136 | meiotic nuclear division (GO:0007126) | 2.46621838 |
| 137 | negative regulation of keratinocyte proliferation (GO:0010839) | 2.46295509 |
| 138 | multicellular organismal catabolic process (GO:0044243) | 2.45344049 |
| 139 | regulation of chondrocyte differentiation (GO:0032330) | 2.45158785 |
| 140 | embryonic foregut morphogenesis (GO:0048617) | 2.45082228 |
| 141 | sprouting angiogenesis (GO:0002040) | 2.44451590 |
| 142 | neural crest cell development (GO:0014032) | 2.43890249 |
| 143 | protein localization to kinetochore (GO:0034501) | 2.43179880 |
| 144 | mesodermal cell differentiation (GO:0048333) | 2.43152511 |
| 145 | regulation of mitotic spindle organization (GO:0060236) | 2.43021615 |
| 146 | regulation of sister chromatid cohesion (GO:0007063) | 2.42962058 |
| 147 | chondrocyte development (GO:0002063) | 2.42860126 |
| 148 | sister chromatid segregation (GO:0000819) | 2.42610318 |
| 149 | positive regulation of mitotic metaphase/anaphase transition (GO:0045842) | 2.41835559 |
| 150 | positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101) | 2.41835559 |
| 151 | positive regulation of mitotic sister chromatid separation (GO:1901970) | 2.41835559 |
| 152 | regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547) | 2.40564842 |
| 153 | regulation of cardioblast differentiation (GO:0051890) | 2.40558995 |
| 154 | COPII vesicle coating (GO:0048208) | 2.40527431 |
| 155 | positive regulation of cartilage development (GO:0061036) | 2.40135602 |
| 156 | branching involved in salivary gland morphogenesis (GO:0060445) | 2.39628906 |
| 157 | spermatogenesis (GO:0007283) | 2.39534924 |
| 158 | mitotic metaphase plate congression (GO:0007080) | 2.39400335 |
| 159 | fertilization (GO:0009566) | 2.39305045 |
| 160 | renal filtration (GO:0097205) | 2.39195519 |
| 161 | outer ear morphogenesis (GO:0042473) | 2.39016191 |
| 162 | male gamete generation (GO:0048232) | 2.38941767 |
| 163 | ganglion development (GO:0061548) | 2.36734090 |
| 164 | negative regulation of axon guidance (GO:1902668) | 2.36124617 |
| 165 | positive regulation of blood vessel endothelial cell migration (GO:0043536) | 2.35830790 |
| 166 | glomerular basement membrane development (GO:0032836) | 2.35152657 |
| 167 | protein hydroxylation (GO:0018126) | 2.33609812 |
| 168 | epithelial cell-cell adhesion (GO:0090136) | 2.32941504 |
| 169 | pericardium development (GO:0060039) | 2.31890759 |
| 170 | mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337) | 2.31600499 |
| 171 | midgut development (GO:0007494) | 2.30767145 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 6.52476820 |
| 2 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 4.65527264 |
| 3 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 4.57654035 |
| 4 | E2F7_22180533_ChIP-Seq_HELA_Human | 4.55151507 |
| 5 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 3.59908150 |
| 6 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 3.16361354 |
| 7 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 3.07021350 |
| 8 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 2.95208172 |
| 9 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 2.91139658 |
| 10 | AR_21909140_ChIP-Seq_LNCAP_Human | 2.71138494 |
| 11 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 2.68982723 |
| 12 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 2.58333496 |
| 13 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 2.53529645 |
| 14 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 2.32900760 |
| 15 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 2.27906671 |
| 16 | NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 2.19557260 |
| 17 | KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 2.16596548 |
| 18 | RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 2.15793678 |
| 19 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 2.07716889 |
| 20 | EP300_21415370_ChIP-Seq_HL-1_Mouse | 2.04274933 |
| 21 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.90711319 |
| 22 | ESR1_22446102_ChIP-Seq_UTERUS_Mouse | 1.89514034 |
| 23 | KLF5_18264089_ChIP-ChIP_MESCs_Mouse | 1.88148572 |
| 24 | KLF4_18264089_ChIP-ChIP_MESCs_Mouse | 1.88148572 |
| 25 | KLF2_18264089_ChIP-ChIP_MESCs_Mouse | 1.88148572 |
| 26 | CLOCK_20551151_ChIP-Seq_293T_Human | 1.87281841 |
| 27 | * HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.85562967 |
| 28 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.82228125 |
| 29 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 1.80508331 |
| 30 | CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 1.78959969 |
| 31 | SMAD_19615063_ChIP-ChIP_OVARY_Human | 1.77704979 |
| 32 | SMAD2_18955504_ChIP-ChIP_HaCaT_Human | 1.76325338 |
| 33 | SMAD3_18955504_ChIP-ChIP_HaCaT_Human | 1.76325338 |
| 34 | ZIC3_20872845_ChIP-ChIP_MESCs_Mouse | 1.75692924 |
| 35 | * BRD4_25478319_ChIP-Seq_HGPS_Human | 1.75044544 |
| 36 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.74231856 |
| 37 | SMAD1_18555785_ChIP-Seq_MESCs_Mouse | 1.68893904 |
| 38 | ZFP281_18358816_ChIP-ChIP_MESCs_Mouse | 1.68773380 |
| 39 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 1.67757127 |
| 40 | SALL4_18804426_ChIP-ChIP_XEN_Mouse | 1.65876590 |
| 41 | TCF3_18467660_ChIP-ChIP_MESCs_Mouse | 1.61368082 |
| 42 | TCF3_18692474_ChIP-Seq_MEFs_Mouse | 1.60520123 |
| 43 | * CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse | 1.60096233 |
| 44 | HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse | 1.58849267 |
| 45 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 1.51210052 |
| 46 | TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.50818016 |
| 47 | * WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 1.50384860 |
| 48 | CJUN_26792858_Chip-Seq_BT549_Human | 1.45808532 |
| 49 | * SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 1.44784749 |
| 50 | * ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.43328649 |
| 51 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 1.41015067 |
| 52 | KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.40308959 |
| 53 | PRDM5_23873026_ChIP-Seq_MEFs_Mouse | 1.39980326 |
| 54 | SOX2_18555785_ChIP-Seq_MESCs_Mouse | 1.39716521 |
| 55 | * CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.38324065 |
| 56 | KLF4_18358816_ChIP-ChIP_MESCs_Mouse | 1.37267370 |
| 57 | TP53_16413492_ChIP-PET_HCT116_Human | 1.35783544 |
| 58 | * NRF2_20460467_ChIP-Seq_MEFs_Mouse | 1.32828141 |
| 59 | * NFE2L2_20460467_ChIP-Seq_MEFs_Mouse | 1.32828141 |
| 60 | TBX3_20139965_ChIP-Seq_ESCs_Mouse | 1.32007455 |
| 61 | * SMAD3_22036565_ChIP-Seq_ESCs_Mouse | 1.31977352 |
| 62 | TBX3_20139965_ChIP-Seq_MESCs_Mouse | 1.31284380 |
| 63 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 1.30793635 |
| 64 | * SOX17_20123909_ChIP-Seq_XEN_Mouse | 1.30259577 |
| 65 | MEF2A_21415370_ChIP-Seq_HL-1_Mouse | 1.29479697 |
| 66 | UBF1/2_26484160_Chip-Seq_HMECs_Human | 1.28418244 |
| 67 | * NACC1_18358816_ChIP-ChIP_MESCs_Mouse | 1.26511440 |
| 68 | ATF3_27146783_Chip-Seq_COLON_Human | 1.25903374 |
| 69 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 1.25532950 |
| 70 | PPAR_26484153_Chip-Seq_NCI-H1993_Human | 1.24773997 |
| 71 | KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.24613189 |
| 72 | NANOG_16153702_ChIP-ChIP_HESCs_Human | 1.24377723 |
| 73 | TP53_22127205_ChIP-Seq_IMR90_Human | 1.22200554 |
| 74 | * TCF3_18692474_ChIP-Seq_MESCs_Mouse | 1.21612655 |
| 75 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 1.21535771 |
| 76 | * SALL4_18804426_ChIP-ChIP_MESCs_Mouse | 1.20891884 |
| 77 | ESR1_15608294_ChIP-ChIP_MCF-7_Human | 1.20032721 |
| 78 | FOXO3_23340844_ChIP-Seq_DLD1_Human | 1.19286601 |
| 79 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.18564292 |
| 80 | GATA2_21666600_ChIP-Seq_HMVEC_Human | 1.17134092 |
| 81 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.15533872 |
| 82 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 1.12481472 |
| 83 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 1.12032224 |
| 84 | ZNF263_19887448_ChIP-Seq_K562_Human | 1.11942533 |
| 85 | * EOMES_20176728_ChIP-ChIP_TSCs_Mouse | 1.11832321 |
| 86 | NKX2-5_21415370_ChIP-Seq_HL-1_Mouse | 1.11611138 |
| 87 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 1.10298846 |
| 88 | TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 1.10033041 |
| 89 | * SOX9_24532713_ChIP-Seq_HFSC_Mouse | 1.09824909 |
| 90 | EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse | 1.09698268 |
| 91 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 1.08801126 |
| 92 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.08429627 |
| 93 | ELK3_25401928_ChIP-Seq_HUVEC_Human | 1.07700252 |
| 94 | P300_27058665_Chip-Seq_ZR-75-30cells_Human | 1.07014466 |
| 95 | STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse | 1.06709958 |
| 96 | ELK1_19687146_ChIP-ChIP_HELA_Human | 1.06225893 |
| 97 | * MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.06117404 |
| 98 | KLF4_18555785_ChIP-Seq_MESCs_Mouse | 1.05806450 |
| 99 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 1.04997222 |
| 100 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.04495482 |
| 101 | ATF3_23680149_ChIP-Seq_GBM1-GSC_Human | 1.04316563 |
| 102 | NANOG_21062744_ChIP-ChIP_HESCs_Human | 1.02381825 |
| 103 | * JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.01590959 |
| 104 | SOX2_18358816_ChIP-ChIP_MESCs_Mouse | 0.99594930 |
| 105 | TRIM28_17542650_ChIP-ChIP_NTERA2_Human | 0.95409927 |
| 106 | SOX9_26525672_Chip-Seq_HEART_Mouse | 0.93875808 |
| 107 | FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.93324489 |
| 108 | RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 0.93236620 |
| 109 | * JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 0.93005125 |
| 110 | GATA6_25053715_ChIP-Seq_YYC3_Human | 0.92733697 |
| 111 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 0.90924775 |
| 112 | POU5F1_16518401_ChIP-PET_MESCs_Mouse | 0.90402586 |
| 113 | CTNNB1_20460455_ChIP-Seq_HCT116_Human | 0.90024162 |
| 114 | ZFX_18555785_ChIP-Seq_MESCs_Mouse | 0.89383183 |
| 115 | YAP1_20516196_ChIP-Seq_MESCs_Mouse | 0.88747759 |
| 116 | DMRT1_23473982_ChIP-Seq_TESTES_Mouse | 0.88218444 |
| 117 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 0.88188370 |
| 118 | ZFP281_27345836_Chip-Seq_ESCs_Mouse | 0.87105286 |
| 119 | * NANOG_18692474_ChIP-Seq_MEFs_Mouse | 0.86963676 |
| 120 | * PRDM14_21183938_ChIP-Seq_MESCs_Mouse | 0.86714024 |
| 121 | FOXM1_26456572_ChIP-Seq_MCF-7_Human | 0.86506485 |
| 122 | * DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 0.86145830 |
| 123 | CHD1_26751641_Chip-Seq_LNCaP_Human | 0.85828980 |
| 124 | RUNX1_27514584_Chip-Seq_MCF-7_Human | 0.85819865 |
| 125 | * NANOG_18347094_ChIP-ChIP_MESCs_Mouse | 0.85757674 |
| 126 | OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 0.85452517 |
| 127 | ASXL1_24218140_ChIP-Seq_BMDM_Mouse | 0.85348451 |
| 128 | * AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 0.85070882 |
| 129 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 0.85037071 |
| 130 | GATA4_25053715_ChIP-Seq_YYC3_Human | 0.84985984 |
| 131 | NCOR1_26117541_ChIP-Seq_K562_Human | 0.84930187 |
| 132 | * FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human | 0.83293336 |
| 133 | ISL1_27105846_Chip-Seq_CPCs_Mouse | 0.82839081 |
| 134 | WT1_19549856_ChIP-ChIP_CCG9911_Human | 0.82779578 |
| 135 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 0.81756793 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003705_abnormal_hypodermis_morpholog | 3.74811666 |
| 2 | MP0008438_abnormal_cutaneous_collagen | 3.73038249 |
| 3 | MP0005410_abnormal_fertilization | 3.38548966 |
| 4 | MP0005623_abnormal_meninges_morphology | 2.89811016 |
| 5 | MP0005275_abnormal_skin_tensile | 2.84461618 |
| 6 | MP0010352_gastrointestinal_tract_polyps | 2.69932271 |
| 7 | MP0004272_abnormal_basement_membrane | 2.57554223 |
| 8 | MP0009053_abnormal_anal_canal | 2.54640042 |
| 9 | MP0003950_abnormal_plasma_membrane | 2.47424977 |
| 10 | MP0005503_abnormal_tendon_morphology | 2.42580846 |
| 11 | MP0010030_abnormal_orbit_morphology | 2.27197900 |
| 12 | MP0000537_abnormal_urethra_morphology | 1.94557403 |
| 13 | MP0003566_abnormal_cell_adhesion | 1.93387541 |
| 14 | MP0001299_abnormal_eye_distance/ | 1.90944601 |
| 15 | MP0005076_abnormal_cell_differentiation | 1.86901444 |
| 16 | MP0006054_spinal_hemorrhage | 1.85944438 |
| 17 | MP0003279_aneurysm | 1.78672565 |
| 18 | MP0005023_abnormal_wound_healing | 1.78314151 |
| 19 | MP0010368_abnormal_lymphatic_system | 1.73973879 |
| 20 | MP0002877_abnormal_melanocyte_morpholog | 1.73679348 |
| 21 | MP0001958_emphysema | 1.69968135 |
| 22 | MP0003941_abnormal_skin_development | 1.69529585 |
| 23 | MP0010234_abnormal_vibrissa_follicle | 1.69337869 |
| 24 | MP0002282_abnormal_trachea_morphology | 1.66221873 |
| 25 | MP0003385_abnormal_body_wall | 1.59155360 |
| 26 | MP0003115_abnormal_respiratory_system | 1.48639199 |
| 27 | MP0000762_abnormal_tongue_morphology | 1.47608210 |
| 28 | MP0005197_abnormal_uvea_morphology | 1.43719504 |
| 29 | MP0005257_abnormal_intraocular_pressure | 1.43223357 |
| 30 | MP0003091_abnormal_cell_migration | 1.40825085 |
| 31 | MP0008007_abnormal_cellular_replicative | 1.38773204 |
| 32 | MP0003942_abnormal_urinary_system | 1.37220224 |
| 33 | MP0000733_abnormal_muscle_development | 1.36367582 |
| 34 | MP0004197_abnormal_fetal_growth/weight/ | 1.35584412 |
| 35 | MP0002060_abnormal_skin_morphology | 1.34180279 |
| 36 | MP0010307_abnormal_tumor_latency | 1.31667654 |
| 37 | MP0000534_abnormal_ureter_morphology | 1.31232499 |
| 38 | MP0001929_abnormal_gametogenesis | 1.30783824 |
| 39 | MP0005367_renal/urinary_system_phenotyp | 1.30251650 |
| 40 | MP0000516_abnormal_urinary_system | 1.30251650 |
| 41 | MP0002084_abnormal_developmental_patter | 1.27838910 |
| 42 | MP0009384_cardiac_valve_regurgitation | 1.27788578 |
| 43 | MP0001849_ear_inflammation | 1.27548470 |
| 44 | MP0005508_abnormal_skeleton_morphology | 1.27101968 |
| 45 | MP0003937_abnormal_limbs/digits/tail_de | 1.26846684 |
| 46 | MP0001293_anophthalmia | 1.24682924 |
| 47 | MP0001915_intracranial_hemorrhage | 1.23843673 |
| 48 | MP0004957_abnormal_blastocyst_morpholog | 1.23656562 |
| 49 | MP0001542_abnormal_bone_strength | 1.23592998 |
| 50 | MP0001730_embryonic_growth_arrest | 1.23496815 |
| 51 | MP0003698_abnormal_male_reproductive | 1.21468473 |
| 52 | MP0009250_abnormal_appendicular_skeleto | 1.20120304 |
| 53 | MP0002653_abnormal_ependyma_morphology | 1.16281998 |
| 54 | MP0002086_abnormal_extraembryonic_tissu | 1.15932353 |
| 55 | MP0005380_embryogenesis_phenotype | 1.15805274 |
| 56 | MP0001672_abnormal_embryogenesis/_devel | 1.15805274 |
| 57 | MP0009697_abnormal_copulation | 1.15102940 |
| 58 | MP0010094_abnormal_chromosome_stability | 1.14492501 |
| 59 | MP0002697_abnormal_eye_size | 1.14195825 |
| 60 | MP0000432_abnormal_head_morphology | 1.14150975 |
| 61 | MP0002254_reproductive_system_inflammat | 1.13722837 |
| 62 | MP0000428_abnormal_craniofacial_morphol | 1.13180453 |
| 63 | MP0005171_absent_coat_pigmentation | 1.12879143 |
| 64 | MP0002210_abnormal_sex_determination | 1.12533402 |
| 65 | MP0003755_abnormal_palate_morphology | 1.12219021 |
| 66 | MP0000767_abnormal_smooth_muscle | 1.12157744 |
| 67 | MP0003984_embryonic_growth_retardation | 1.12045894 |
| 68 | MP0003111_abnormal_nucleus_morphology | 1.11631777 |
| 69 | MP0002085_abnormal_embryonic_tissue | 1.11565397 |
| 70 | MP0002088_abnormal_embryonic_growth/wei | 1.11112288 |
| 71 | MP0002932_abnormal_joint_morphology | 1.10330279 |
| 72 | MP0003077_abnormal_cell_cycle | 1.08729342 |
| 73 | MP0002092_abnormal_eye_morphology | 1.08622076 |
| 74 | MP0009780_abnormal_chondrocyte_physiolo | 1.08077185 |
| 75 | MP0003935_abnormal_craniofacial_develop | 1.07087774 |
| 76 | MP0004233_abnormal_muscle_weight | 1.05820061 |
| 77 | MP0001879_abnormal_lymphatic_vessel | 1.05436363 |
| 78 | MP0002295_abnormal_pulmonary_circulatio | 1.04266313 |
| 79 | MP0000350_abnormal_cell_proliferation | 1.03782309 |
| 80 | MP0001697_abnormal_embryo_size | 1.02045356 |
| 81 | MP0002796_impaired_skin_barrier | 1.01336985 |
| 82 | MP0001286_abnormal_eye_development | 1.00886373 |
| 83 | MP0008877_abnormal_DNA_methylation | 0.99813792 |
| 84 | MP0000569_abnormal_digit_pigmentation | 0.98447148 |
| 85 | MP0003890_abnormal_embryonic-extraembry | 0.98096746 |
| 86 | MP0002925_abnormal_cardiovascular_devel | 0.97503397 |
| 87 | MP0001145_abnormal_male_reproductive | 0.97116760 |
| 88 | MP0003119_abnormal_digestive_system | 0.96777048 |
| 89 | MP0005595_abnormal_vascular_smooth | 0.95775398 |
| 90 | MP0000751_myopathy | 0.95723471 |
| 91 | MP0002108_abnormal_muscle_morphology | 0.95155037 |
| 92 | MP0009278_abnormal_bone_marrow | 0.95013875 |
| 93 | MP0002896_abnormal_bone_mineralization | 0.94286094 |
| 94 | MP0002177_abnormal_outer_ear | 0.92875020 |
| 95 | MP0002938_white_spotting | 0.92644541 |
| 96 | MP0002111_abnormal_tail_morphology | 0.92591492 |
| 97 | MP0001243_abnormal_dermal_layer | 0.92064031 |
| 98 | MP0005248_abnormal_Harderian_gland | 0.90333107 |
| 99 | MP0002233_abnormal_nose_morphology | 0.89454298 |
| 100 | MP0005187_abnormal_penis_morphology | 0.87315065 |
| 101 | MP0005193_abnormal_anterior_eye | 0.87265946 |
| 102 | MP0008932_abnormal_embryonic_tissue | 0.86517519 |
| 103 | MP0003453_abnormal_keratinocyte_physiol | 0.85273751 |
| 104 | MP0005501_abnormal_skin_physiology | 0.84652124 |
| 105 | MP0003123_paternal_imprinting | 0.83083249 |
| 106 | MP0000653_abnormal_sex_gland | 0.82584980 |
| 107 | MP0001614_abnormal_blood_vessel | 0.82284531 |
| 108 | MP0002115_abnormal_skeleton_extremities | 0.80367718 |
| 109 | MP0002109_abnormal_limb_morphology | 0.80098775 |
| 110 | MP0003693_abnormal_embryo_hatching | 0.80044355 |
| 111 | MP0003283_abnormal_digestive_organ | 0.79964885 |
| 112 | MP0008057_abnormal_DNA_replication | 0.79090625 |
| 113 | MP0002128_abnormal_blood_circulation | 0.78817759 |
| 114 | MP0004808_abnormal_hematopoietic_stem | 0.78799821 |
| 115 | MP0001175_abnormal_lung_morphology | 0.78589899 |
| 116 | MP0002080_prenatal_lethality | 0.78472759 |
| 117 | MP0000049_abnormal_middle_ear | 0.78204152 |
| 118 | MP0002116_abnormal_craniofacial_bone | 0.78183016 |
| 119 | MP0002168_other_aberrant_phenotype | 0.77952244 |
| 120 | MP0000163_abnormal_cartilage_morphology | 0.73358555 |
| 121 | MP0000013_abnormal_adipose_tissue | 0.71161258 |
| 122 | MP0004858_abnormal_nervous_system | 0.70043145 |
| 123 | MP0002114_abnormal_axial_skeleton | 0.68965616 |
| 124 | MP0006138_congestive_heart_failure | 0.67142798 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Protrusio acetabuli (HP:0003179) | 5.18873856 |
| 2 | Vascular tortuosity (HP:0004948) | 4.35244543 |
| 3 | Premature rupture of membranes (HP:0001788) | 4.31927263 |
| 4 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.27656429 |
| 5 | Arterial tortuosity (HP:0005116) | 4.27271828 |
| 6 | Shallow orbits (HP:0000586) | 3.82219811 |
| 7 | Absent/shortened dynein arms (HP:0200106) | 3.48638562 |
| 8 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 3.48638562 |
| 9 | Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042) | 3.30348544 |
| 10 | Short 4th metacarpal (HP:0010044) | 3.30348544 |
| 11 | Abnormality of dentin (HP:0010299) | 3.18671524 |
| 12 | Ankle contracture (HP:0006466) | 3.14190756 |
| 13 | Atrophic scars (HP:0001075) | 3.01661696 |
| 14 | Chronic bronchitis (HP:0004469) | 2.95698246 |
| 15 | Selective tooth agenesis (HP:0001592) | 2.87961698 |
| 16 | Cerebral aneurysm (HP:0004944) | 2.74251979 |
| 17 | Cervical subluxation (HP:0003308) | 2.63914137 |
| 18 | Microglossia (HP:0000171) | 2.58331991 |
| 19 | Abnormality of the 4th metacarpal (HP:0010012) | 2.51990541 |
| 20 | Spondylolisthesis (HP:0003302) | 2.49768309 |
| 21 | Peritonitis (HP:0002586) | 2.46894462 |
| 22 | Aortic dissection (HP:0002647) | 2.41883813 |
| 23 | Bladder diverticulum (HP:0000015) | 2.41216103 |
| 24 | Ulnar bowing (HP:0003031) | 2.40537858 |
| 25 | Overgrowth (HP:0001548) | 2.38964735 |
| 26 | Genu recurvatum (HP:0002816) | 2.34786652 |
| 27 | Absent frontal sinuses (HP:0002688) | 2.34560443 |
| 28 | Abnormal respiratory motile cilium physiology (HP:0012261) | 2.33881515 |
| 29 | Type 1 muscle fiber predominance (HP:0003803) | 2.32672960 |
| 30 | Soft skin (HP:0000977) | 2.31781018 |
| 31 | Mitral valve prolapse (HP:0001634) | 2.24107741 |
| 32 | Osteolytic defects of the hand bones (HP:0009699) | 2.23555928 |
| 33 | Osteolytic defects of the phalanges of the hand (HP:0009771) | 2.23555928 |
| 34 | Hyperextensible skin (HP:0000974) | 2.21519705 |
| 35 | Tubular atrophy (HP:0000092) | 2.19974080 |
| 36 | Broad metatarsal (HP:0001783) | 2.19516654 |
| 37 | Short nail (HP:0001799) | 2.18199918 |
| 38 | Syringomyelia (HP:0003396) | 2.16973563 |
| 39 | Spinal cord lesions (HP:0100561) | 2.16973563 |
| 40 | Natal tooth (HP:0000695) | 2.16255647 |
| 41 | Wormian bones (HP:0002645) | 2.16139445 |
| 42 | Coronal craniosynostosis (HP:0004440) | 2.15575575 |
| 43 | Neonatal short-limb short stature (HP:0008921) | 2.15119938 |
| 44 | Aortic aneurysm (HP:0004942) | 2.13487569 |
| 45 | Bell-shaped thorax (HP:0001591) | 2.08811113 |
| 46 | Fragile skin (HP:0001030) | 2.08143908 |
| 47 | Abnormality of the distal phalanx of the thumb (HP:0009617) | 2.07807879 |
| 48 | Vertebral compression fractures (HP:0002953) | 2.06690149 |
| 49 | Wrist flexion contracture (HP:0001239) | 2.06538539 |
| 50 | Abnormal respiratory epithelium morphology (HP:0012253) | 2.04146372 |
| 51 | Abnormal respiratory motile cilium morphology (HP:0005938) | 2.04146372 |
| 52 | Deviation of the hallux (HP:0010051) | 2.03694211 |
| 53 | Spinal rigidity (HP:0003306) | 2.02463371 |
| 54 | Slender build (HP:0001533) | 2.01867180 |
| 55 | Abnormality of the nasal mucosa (HP:0000433) | 2.01298829 |
| 56 | Nasal polyposis (HP:0100582) | 2.00428643 |
| 57 | Blue sclerae (HP:0000592) | 2.00071462 |
| 58 | Rhinitis (HP:0012384) | 1.99968895 |
| 59 | Protruding ear (HP:0000411) | 1.99760855 |
| 60 | Ectopia lentis (HP:0001083) | 1.98992237 |
| 61 | Short humerus (HP:0005792) | 1.98251166 |
| 62 | Deviation of the thumb (HP:0009603) | 1.97972419 |
| 63 | Hallux valgus (HP:0001822) | 1.97291039 |
| 64 | Infertility (HP:0000789) | 1.96216354 |
| 65 | Dilatation of the ascending aorta (HP:0005111) | 1.95435195 |
| 66 | Increased connective tissue (HP:0009025) | 1.92551117 |
| 67 | Disproportionate tall stature (HP:0001519) | 1.91647475 |
| 68 | Breech presentation (HP:0001623) | 1.90091999 |
| 69 | Abnormality of the acetabulum (HP:0003170) | 1.89813701 |
| 70 | Mildly elevated creatine phosphokinase (HP:0008180) | 1.87011290 |
| 71 | Buphthalmos (HP:0000557) | 1.84683324 |
| 72 | Aortic valve stenosis (HP:0001650) | 1.84260722 |
| 73 | Bowel diverticulosis (HP:0005222) | 1.83254994 |
| 74 | Abnormality of the peritoneum (HP:0002585) | 1.82897380 |
| 75 | Missing ribs (HP:0000921) | 1.82349074 |
| 76 | Aortic regurgitation (HP:0001659) | 1.80312126 |
| 77 | Short ribs (HP:0000773) | 1.79730109 |
| 78 | Aplasia/hypoplasia of the humerus (HP:0006507) | 1.79300253 |
| 79 | Subacute progressive viral hepatitis (HP:0006572) | 1.78266561 |
| 80 | Hypoplastic labia majora (HP:0000059) | 1.77624304 |
| 81 | Broad long bones (HP:0005622) | 1.76976799 |
| 82 | Male infertility (HP:0003251) | 1.76595787 |
| 83 | Abnormality of the calcaneus (HP:0008364) | 1.76027545 |
| 84 | Delayed cranial suture closure (HP:0000270) | 1.75313237 |
| 85 | Mesomelia (HP:0003027) | 1.74258627 |
| 86 | Pterygium (HP:0001059) | 1.73672429 |
| 87 | Mitral regurgitation (HP:0001653) | 1.72976093 |
| 88 | Proximal placement of thumb (HP:0009623) | 1.72107410 |
| 89 | Elbow flexion contracture (HP:0002987) | 1.71972840 |
| 90 | Renal duplication (HP:0000075) | 1.71515793 |
| 91 | Abnormality of the umbilical cord (HP:0010881) | 1.71287497 |
| 92 | Biconcave vertebral bodies (HP:0004586) | 1.70896426 |
| 93 | High pitched voice (HP:0001620) | 1.70532279 |
| 94 | Abnormal delivery (HP:0001787) | 1.70500456 |
| 95 | Radial bowing (HP:0002986) | 1.70191128 |
| 96 | Tibial bowing (HP:0002982) | 1.69759330 |
| 97 | Bowing of the arm (HP:0006488) | 1.68762574 |
| 98 | Bowed forearm bones (HP:0003956) | 1.68762574 |
| 99 | Camptodactyly of toe (HP:0001836) | 1.68088968 |
| 100 | Knee flexion contracture (HP:0006380) | 1.67664234 |
| 101 | Limited hip movement (HP:0008800) | 1.66719612 |
| 102 | Vertebral arch anomaly (HP:0008438) | 1.66279329 |
| 103 | Arnold-Chiari malformation (HP:0002308) | 1.66113570 |
| 104 | Lymphangioma (HP:0100764) | 1.65664233 |
| 105 | Wide anterior fontanel (HP:0000260) | 1.64793496 |
| 106 | Aplasia/Hypoplasia of the frontal sinuses (HP:0009119) | 1.64760926 |
| 107 | Nonimmune hydrops fetalis (HP:0001790) | 1.64651844 |
| 108 | Rectal prolapse (HP:0002035) | 1.64321365 |
| 109 | Increased density of long bones (HP:0006392) | 1.63699241 |
| 110 | Abnormality of the fetal cardiovascular system (HP:0010948) | 1.63683338 |
| 111 | Abnormal umbilical cord blood vessels (HP:0011403) | 1.63683338 |
| 112 | Single umbilical artery (HP:0001195) | 1.63683338 |
| 113 | Hypoventilation (HP:0002791) | 1.63557239 |
| 114 | Rhizomelia (HP:0008905) | 1.62475375 |
| 115 | Broad thumb (HP:0011304) | 1.62338794 |
| 116 | Abnormality of the phalanges of the hallux (HP:0010057) | 1.61682055 |
| 117 | Aneurysm (HP:0002617) | 1.61200387 |
| 118 | Abnormality of the labia majora (HP:0012881) | 1.59523871 |
| 119 | Fused cervical vertebrae (HP:0002949) | 1.59460530 |
| 120 | Abnormality of the lower motor neuron (HP:0002366) | 1.59108362 |
| 121 | Inguinal hernia (HP:0000023) | 1.59060854 |
| 122 | Turricephaly (HP:0000262) | 1.57838409 |
| 123 | Limb-girdle muscle weakness (HP:0003325) | 1.57833262 |
| 124 | Tubulointerstitial fibrosis (HP:0005576) | 1.57454372 |
| 125 | Asymmetry of the thorax (HP:0001555) | 1.56844843 |
| 126 | Broad phalanx (HP:0006009) | 1.56432918 |
| 127 | Follicular hyperkeratosis (HP:0007502) | 1.56364291 |
| 128 | Dislocated radial head (HP:0003083) | 1.56238778 |
| 129 | Milia (HP:0001056) | 1.56038335 |
| 130 | Pulmonic stenosis (HP:0001642) | 1.55015504 |
| 131 | Broad phalanges of the hand (HP:0009768) | 1.54328051 |
| 132 | Joint laxity (HP:0001388) | 1.52801726 |
| 133 | Arachnodactyly (HP:0001166) | 1.51437234 |
| 134 | Long eyelashes (HP:0000527) | 1.51052044 |
| 135 | Hydroureter (HP:0000072) | 1.50238272 |
| 136 | Cardiovascular calcification (HP:0011915) | 1.48855779 |
| 137 | Flat cornea (HP:0007720) | 1.48685539 |
| 138 | Congenital glaucoma (HP:0001087) | 1.45919033 |
| 139 | Ankyloglossia (HP:0010296) | 1.45671221 |
| 140 | Joint contractures involving the joints of the feet (HP:0100492) | 1.45204242 |
| 141 | Flexion contracture of toe (HP:0005830) | 1.45204242 |
| 142 | Hip contracture (HP:0003273) | 1.44950314 |
| 143 | Trismus (HP:0000211) | 1.44184773 |
| 144 | Abnormality of oral frenula (HP:0000190) | 1.44063305 |
| 145 | Hyperacusis (HP:0010780) | 1.43445510 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK3 | 3.66260986 |
| 2 | PDK4 | 3.66260986 |
| 3 | LATS1 | 3.43541616 |
| 4 | TESK1 | 2.88525015 |
| 5 | MYLK | 2.75355017 |
| 6 | CDK12 | 2.64910746 |
| 7 | PDK2 | 2.62166417 |
| 8 | NTRK1 | 2.47403938 |
| 9 | DDR2 | 2.47233594 |
| 10 | EPHA2 | 2.30444132 |
| 11 | NEK2 | 2.18895818 |
| 12 | TTN | 2.07218813 |
| 13 | STK3 | 2.07007498 |
| 14 | LATS2 | 2.06315584 |
| 15 | CDC7 | 1.96390701 |
| 16 | PDGFRA | 1.95556793 |
| 17 | ICK | 1.92679489 |
| 18 | TRIB3 | 1.88877186 |
| 19 | EPHB2 | 1.86328499 |
| 20 | PAK4 | 1.79910720 |
| 21 | PKN2 | 1.70373820 |
| 22 | LIMK1 | 1.64305227 |
| 23 | PRKD3 | 1.62386797 |
| 24 | STK38L | 1.54554548 |
| 25 | TTK | 1.53691438 |
| 26 | PTK2B | 1.53216101 |
| 27 | PTK6 | 1.51768890 |
| 28 | TGFBR1 | 1.51221641 |
| 29 | MET | 1.48128762 |
| 30 | RIPK1 | 1.47739204 |
| 31 | EEF2K | 1.45226475 |
| 32 | BMX | 1.39708210 |
| 33 | PAK2 | 1.39099838 |
| 34 | CDK6 | 1.37507935 |
| 35 | STK10 | 1.27018893 |
| 36 | MTOR | 1.26962078 |
| 37 | BCR | 1.23363839 |
| 38 | LRRK2 | 1.23011321 |
| 39 | WEE1 | 1.22120798 |
| 40 | FER | 1.21847682 |
| 41 | MAP3K10 | 1.21828348 |
| 42 | PTK2 | 1.21598077 |
| 43 | PBK | 1.19956622 |
| 44 | TSSK6 | 1.16609772 |
| 45 | RPS6KA4 | 1.14697111 |
| 46 | DYRK1B | 1.13809678 |
| 47 | PLK2 | 1.11806634 |
| 48 | FGFR1 | 1.07692146 |
| 49 | EIF2AK1 | 1.07084690 |
| 50 | CDK8 | 1.06378171 |
| 51 | TAF1 | 1.04472491 |
| 52 | SIK1 | 1.02630447 |
| 53 | MOS | 1.01883557 |
| 54 | RPS6KB2 | 1.01248329 |
| 55 | AKT3 | 1.00560082 |
| 56 | SRPK1 | 0.99953972 |
| 57 | PASK | 0.98778147 |
| 58 | MKNK2 | 0.96707416 |
| 59 | MKNK1 | 0.95117951 |
| 60 | DMPK | 0.92669126 |
| 61 | PLK1 | 0.91515617 |
| 62 | PDGFRB | 0.89887498 |
| 63 | CDK7 | 0.89343459 |
| 64 | ROCK2 | 0.88940067 |
| 65 | KSR1 | 0.88765139 |
| 66 | ERN1 | 0.87988210 |
| 67 | NEK9 | 0.86864580 |
| 68 | FGFR2 | 0.85954086 |
| 69 | TNIK | 0.82961404 |
| 70 | BRSK1 | 0.81931481 |
| 71 | FRK | 0.80198801 |
| 72 | MAP3K8 | 0.79685118 |
| 73 | MST1R | 0.79662114 |
| 74 | TIE1 | 0.79278658 |
| 75 | AURKB | 0.78850357 |
| 76 | ATR | 0.77476131 |
| 77 | TYRO3 | 0.77311890 |
| 78 | EIF2AK3 | 0.75769703 |
| 79 | TGFBR2 | 0.75765507 |
| 80 | CHEK1 | 0.74624742 |
| 81 | ERBB3 | 0.73872845 |
| 82 | KDR | 0.72031072 |
| 83 | TRPM7 | 0.70630706 |
| 84 | BRSK2 | 0.66571741 |
| 85 | CHEK2 | 0.66450887 |
| 86 | NEK1 | 0.64968915 |
| 87 | PLK3 | 0.63980232 |
| 88 | CAMK1D | 0.63888925 |
| 89 | PNCK | 0.63689858 |
| 90 | CDK4 | 0.63652494 |
| 91 | MAP3K3 | 0.63470709 |
| 92 | ATM | 0.63336585 |
| 93 | CLK1 | 0.59397822 |
| 94 | DYRK3 | 0.58747756 |
| 95 | PAK6 | 0.57393139 |
| 96 | TRIM28 | 0.56308908 |
| 97 | BRD4 | 0.56033701 |
| 98 | PLK4 | 0.54754506 |
| 99 | ACVR1B | 0.54536205 |
| 100 | CAMK1G | 0.53761959 |
| 101 | EPHA3 | 0.52464980 |
| 102 | STK24 | 0.51082851 |
| 103 | CDK9 | 0.50437853 |
| 104 | MELK | 0.49810782 |
| 105 | ABL2 | 0.49604557 |
| 106 | STK38 | 0.48970703 |
| 107 | PAK1 | 0.47789454 |
| 108 | SCYL2 | 0.47347505 |
| 109 | ERBB4 | 0.46587604 |
| 110 | SMG1 | 0.46448938 |
| 111 | PRKG2 | 0.46443322 |
| 112 | PRKD2 | 0.46150149 |
| 113 | CHUK | 0.45857696 |
| 114 | BUB1 | 0.44624727 |
| 115 | ERBB2 | 0.42625392 |
| 116 | CDK2 | 0.41151038 |
| 117 | PIM1 | 0.41109565 |
| 118 | PRKCE | 0.40950553 |
| 119 | BRAF | 0.39217537 |
| 120 | MAP3K12 | 0.38541977 |
| 121 | IRAK3 | 0.36401303 |
| 122 | RPS6KA2 | 0.36247493 |
| 123 | WNK4 | 0.35895812 |
| 124 | GSK3A | 0.35717506 |
| 125 | DAPK3 | 0.34619237 |
| 126 | EIF2AK2 | 0.33283009 |
| 127 | WNK1 | 0.33197687 |
| 128 | PAK3 | 0.33063378 |
| 129 | INSR | 0.32606046 |
| 130 | CSNK1G1 | 0.32509556 |
| 131 | EGFR | 0.32198980 |
| 132 | CDK1 | 0.31686146 |
| 133 | * MAPK1 | 0.31424984 |
| 134 | TESK2 | 0.31077136 |
| 135 | FLT3 | 0.30798889 |
| 136 | ILK | 0.29966049 |
| 137 | AURKA | 0.29343905 |
| 138 | ROCK1 | 0.29336235 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | ECM-receptor interaction_Homo sapiens_hsa04512 | 2.78068968 |
| 2 | Adherens junction_Homo sapiens_hsa04520 | 2.47501161 |
| 3 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 2.36255803 |
| 4 | Small cell lung cancer_Homo sapiens_hsa05222 | 2.18432623 |
| 5 | Hippo signaling pathway_Homo sapiens_hsa04390 | 2.08993219 |
| 6 | Basal cell carcinoma_Homo sapiens_hsa05217 | 2.08498639 |
| 7 | RNA transport_Homo sapiens_hsa03013 | 2.08076255 |
| 8 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.97359820 |
| 9 | Focal adhesion_Homo sapiens_hsa04510 | 1.96899616 |
| 10 | Cell cycle_Homo sapiens_hsa04110 | 1.93966658 |
| 11 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 1.88966290 |
| 12 | p53 signaling pathway_Homo sapiens_hsa04115 | 1.88401118 |
| 13 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.85690724 |
| 14 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 1.83367085 |
| 15 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 1.79462894 |
| 16 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 1.78721154 |
| 17 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.70598917 |
| 18 | Protein export_Homo sapiens_hsa03060 | 1.66411669 |
| 19 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 1.66198174 |
| 20 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.64814762 |
| 21 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 1.55504801 |
| 22 | Bladder cancer_Homo sapiens_hsa05219 | 1.53255808 |
| 23 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 1.48002855 |
| 24 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 1.37006344 |
| 25 | Amoebiasis_Homo sapiens_hsa05146 | 1.36404049 |
| 26 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.36162741 |
| 27 | Tight junction_Homo sapiens_hsa04530 | 1.32904067 |
| 28 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 1.32885560 |
| 29 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 1.30213622 |
| 30 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.27931126 |
| 31 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.27867138 |
| 32 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.18582399 |
| 33 | Viral carcinogenesis_Homo sapiens_hsa05203 | 1.17466163 |
| 34 | DNA replication_Homo sapiens_hsa03030 | 1.15680734 |
| 35 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 1.14381353 |
| 36 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 1.11521223 |
| 37 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.10377962 |
| 38 | HTLV-I infection_Homo sapiens_hsa05166 | 1.10124036 |
| 39 | Axon guidance_Homo sapiens_hsa04360 | 1.09208398 |
| 40 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 1.05017943 |
| 41 | Spliceosome_Homo sapiens_hsa03040 | 1.04095264 |
| 42 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.02907284 |
| 43 | Mismatch repair_Homo sapiens_hsa03430 | 1.01578077 |
| 44 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 1.01468670 |
| 45 | Melanogenesis_Homo sapiens_hsa04916 | 1.01226629 |
| 46 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 1.01192933 |
| 47 | Basal transcription factors_Homo sapiens_hsa03022 | 1.00361356 |
| 48 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 1.00280940 |
| 49 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.00075129 |
| 50 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 0.99915980 |
| 51 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.99408135 |
| 52 | Prostate cancer_Homo sapiens_hsa05215 | 0.96570948 |
| 53 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.96392411 |
| 54 | Pathways in cancer_Homo sapiens_hsa05200 | 0.94571867 |
| 55 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.94130135 |
| 56 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 0.94079375 |
| 57 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.92418681 |
| 58 | Malaria_Homo sapiens_hsa05144 | 0.92415290 |
| 59 | Thyroid cancer_Homo sapiens_hsa05216 | 0.92144869 |
| 60 | Lysine degradation_Homo sapiens_hsa00310 | 0.90812710 |
| 61 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.88213605 |
| 62 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.87184266 |
| 63 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.86818852 |
| 64 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.86804939 |
| 65 | Viral myocarditis_Homo sapiens_hsa05416 | 0.86512144 |
| 66 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.85618166 |
| 67 | Legionellosis_Homo sapiens_hsa05134 | 0.83773612 |
| 68 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.82806736 |
| 69 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.82546907 |
| 70 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.82419272 |
| 71 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.82047105 |
| 72 | Melanoma_Homo sapiens_hsa05218 | 0.81211792 |
| 73 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.81149470 |
| 74 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.79371011 |
| 75 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.74840963 |
| 76 | Shigellosis_Homo sapiens_hsa05131 | 0.73118348 |
| 77 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.71348982 |
| 78 | Base excision repair_Homo sapiens_hsa03410 | 0.69991328 |
| 79 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.69432445 |
| 80 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.69144233 |
| 81 | Gap junction_Homo sapiens_hsa04540 | 0.68032235 |
| 82 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.67766406 |
| 83 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.67054476 |
| 84 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.64693631 |
| 85 | Galactose metabolism_Homo sapiens_hsa00052 | 0.64691199 |
| 86 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.64536956 |
| 87 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.64512196 |
| 88 | Proteasome_Homo sapiens_hsa03050 | 0.63742232 |
| 89 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.62218639 |
| 90 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.61925431 |
| 91 | Glioma_Homo sapiens_hsa05214 | 0.60939108 |
| 92 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.60880959 |
| 93 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.60831750 |
| 94 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.60798498 |
| 95 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.60786118 |
| 96 | Endometrial cancer_Homo sapiens_hsa05213 | 0.59569199 |
| 97 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.59530747 |
| 98 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.58947468 |
| 99 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.58419626 |
| 100 | RNA degradation_Homo sapiens_hsa03018 | 0.57896304 |
| 101 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.57201719 |
| 102 | Mineral absorption_Homo sapiens_hsa04978 | 0.57185491 |
| 103 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.56991461 |
| 104 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.56984263 |
| 105 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.56456341 |
| 106 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.56429237 |
| 107 | Colorectal cancer_Homo sapiens_hsa05210 | 0.56157470 |
| 108 | TNF signaling pathway_Homo sapiens_hsa04668 | 0.55718083 |
| 109 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.55349128 |
| 110 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.55293383 |
| 111 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.54545432 |
| 112 | Renal cell carcinoma_Homo sapiens_hsa05211 | 0.54212432 |
| 113 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 0.53519353 |
| 114 | Apoptosis_Homo sapiens_hsa04210 | 0.52926384 |
| 115 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.52099753 |
| 116 | Prion diseases_Homo sapiens_hsa05020 | 0.52011240 |
| 117 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.50799164 |
| 118 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.50255123 |
| 119 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.49876486 |
| 120 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.48099198 |
| 121 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.47319578 |
| 122 | Salmonella infection_Homo sapiens_hsa05132 | 0.46830026 |
| 123 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.46814363 |
| 124 | Homologous recombination_Homo sapiens_hsa03440 | 0.46753711 |
| 125 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.45389824 |
| 126 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.44567095 |
| 127 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.43838127 |
| 128 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.43535952 |
| 129 | Carbon metabolism_Homo sapiens_hsa01200 | 0.41511560 |
| 130 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.38904953 |
| 131 | RNA polymerase_Homo sapiens_hsa03020 | 0.34247433 |
| 132 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.32797813 |
| 133 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.30990593 |
| 134 | Ras signaling pathway_Homo sapiens_hsa04014 | 0.29488315 |

