

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm motility (GO:0030317) | 5.62630421 |
| 2 | fusion of sperm to egg plasma membrane (GO:0007342) | 5.48468273 |
| 3 | sperm-egg recognition (GO:0035036) | 4.72880169 |
| 4 | acrosome reaction (GO:0007340) | 4.71563381 |
| 5 | acrosome assembly (GO:0001675) | 4.65335474 |
| 6 | Golgi transport vesicle coating (GO:0048200) | 4.56948844 |
| 7 | COPI coating of Golgi vesicle (GO:0048205) | 4.56948844 |
| 8 | binding of sperm to zona pellucida (GO:0007339) | 4.45348572 |
| 9 | heterochromatin organization (GO:0070828) | 4.40703119 |
| 10 | spermatid development (GO:0007286) | 4.38826119 |
| 11 | cell wall macromolecule metabolic process (GO:0044036) | 4.37899100 |
| 12 | cell wall macromolecule catabolic process (GO:0016998) | 4.37899100 |
| 13 | negative regulation of erythrocyte differentiation (GO:0045647) | 4.34077984 |
| 14 | piRNA metabolic process (GO:0034587) | 4.32746376 |
| 15 | cell-cell recognition (GO:0009988) | 4.27403580 |
| 16 | plasma membrane fusion (GO:0045026) | 4.23897978 |
| 17 | pre-miRNA processing (GO:0031054) | 4.01265818 |
| 18 | peptidyl-lysine dimethylation (GO:0018027) | 3.93500560 |
| 19 | regulation of early endosome to late endosome transport (GO:2000641) | 3.92604442 |
| 20 | negative regulation of cell size (GO:0045792) | 3.84847569 |
| 21 | regulation of NFAT protein import into nucleus (GO:0051532) | 3.81553543 |
| 22 | male meiosis (GO:0007140) | 3.79009720 |
| 23 | protein retention in ER lumen (GO:0006621) | 3.78330847 |
| 24 | motile cilium assembly (GO:0044458) | 3.76493793 |
| 25 | proline biosynthetic process (GO:0006561) | 3.76113594 |
| 26 | * synaptonemal complex assembly (GO:0007130) | 3.73964955 |
| 27 | maintenance of protein localization in endoplasmic reticulum (GO:0035437) | 3.73081017 |
| 28 | * synaptonemal complex organization (GO:0070193) | 3.70674315 |
| 29 | cilium or flagellum-dependent cell motility (GO:0001539) | 3.68921671 |
| 30 | gene silencing by RNA (GO:0031047) | 3.58792764 |
| 31 | chromosome condensation (GO:0030261) | 3.56689316 |
| 32 | retrograde vesicle-mediated transport, Golgi to ER (GO:0006890) | 3.55440705 |
| 33 | multicellular organism reproduction (GO:0032504) | 3.52700612 |
| 34 | negative regulation of organelle assembly (GO:1902116) | 3.50671065 |
| 35 | regulation of mammary gland epithelial cell proliferation (GO:0033599) | 3.48104152 |
| 36 | protein localization to endosome (GO:0036010) | 3.45766868 |
| 37 | NLS-bearing protein import into nucleus (GO:0006607) | 3.45437741 |
| 38 | negative regulation of inclusion body assembly (GO:0090084) | 3.45298642 |
| 39 | gene silencing (GO:0016458) | 3.43119392 |
| 40 | protein-DNA complex disassembly (GO:0032986) | 3.40634488 |
| 41 | nucleosome disassembly (GO:0006337) | 3.40634488 |
| 42 | nuclear pore complex assembly (GO:0051292) | 3.40601502 |
| 43 | positive regulation of histone deacetylation (GO:0031065) | 3.40364127 |
| 44 | intracellular estrogen receptor signaling pathway (GO:0030520) | 3.38484564 |
| 45 | 3-UTR-mediated mRNA stabilization (GO:0070935) | 3.36441155 |
| 46 | activation of Rac GTPase activity (GO:0032863) | 3.35337165 |
| 47 | reproduction (GO:0000003) | 3.32833661 |
| 48 | RNA stabilization (GO:0043489) | 3.28446699 |
| 49 | mRNA stabilization (GO:0048255) | 3.28446699 |
| 50 | axonemal dynein complex assembly (GO:0070286) | 3.26515740 |
| 51 | regulation of translational fidelity (GO:0006450) | 3.25593085 |
| 52 | basement membrane organization (GO:0071711) | 3.23272735 |
| 53 | epithelial cilium movement (GO:0003351) | 3.22899583 |
| 54 | mannose metabolic process (GO:0006013) | 3.21652204 |
| 55 | regulation of histone H3-K27 methylation (GO:0061085) | 3.20812637 |
| 56 | cytoskeletal anchoring at plasma membrane (GO:0007016) | 3.19519879 |
| 57 | DNA packaging (GO:0006323) | 3.17820043 |
| 58 | regulation of glucose import in response to insulin stimulus (GO:2001273) | 3.17047874 |
| 59 | establishment of apical/basal cell polarity (GO:0035089) | 3.16278181 |
| 60 | glucose 6-phosphate metabolic process (GO:0051156) | 3.15966560 |
| 61 | regulation of cilium movement (GO:0003352) | 3.13866929 |
| 62 | embryonic process involved in female pregnancy (GO:0060136) | 3.13118690 |
| 63 | regulation of hippo signaling (GO:0035330) | 3.11410905 |
| 64 | cell-cell junction maintenance (GO:0045217) | 3.08592976 |
| 65 | * spermatogenesis (GO:0007283) | 3.07492577 |
| 66 | chromatin silencing (GO:0006342) | 3.07115764 |
| 67 | regulation of cholesterol homeostasis (GO:2000188) | 3.06417951 |
| 68 | nuclear pore organization (GO:0006999) | 3.06339364 |
| 69 | * male gamete generation (GO:0048232) | 3.06007926 |
| 70 | regulation of chromatin binding (GO:0035561) | 3.04945417 |
| 71 | cell-substrate junction assembly (GO:0007044) | 3.03614689 |
| 72 | modulation by symbiont of host cellular process (GO:0044068) | 3.02193972 |
| 73 | semaphorin-plexin signaling pathway (GO:0071526) | 2.99706301 |
| 74 | mitotic chromosome condensation (GO:0007076) | 2.98784924 |
| 75 | epithelial cell-cell adhesion (GO:0090136) | 2.95689825 |
| 76 | pentose-phosphate shunt (GO:0006098) | 2.95346976 |
| 77 | mitotic sister chromatid cohesion (GO:0007064) | 2.94696947 |
| 78 | DNA unwinding involved in DNA replication (GO:0006268) | 2.94109734 |
| 79 | germ cell development (GO:0007281) | 2.94066439 |
| 80 | left/right pattern formation (GO:0060972) | 2.92297986 |
| 81 | activation of signaling protein activity involved in unfolded protein response (GO:0006987) | 2.90216187 |
| 82 | regulation of inclusion body assembly (GO:0090083) | 2.89498662 |
| 83 | seminiferous tubule development (GO:0072520) | 2.89264162 |
| 84 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 2.88458513 |
| 85 | modulation by virus of host process (GO:0019054) | 2.87808362 |
| 86 | adherens junction assembly (GO:0034333) | 2.84688048 |
| 87 | cellular response to epidermal growth factor stimulus (GO:0071364) | 2.84081027 |
| 88 | plasma membrane repair (GO:0001778) | 2.83422127 |
| 89 | regulation of RNA export from nucleus (GO:0046831) | 2.82523831 |
| 90 | negative regulation of potassium ion transmembrane transporter activity (GO:1901017) | 2.81123503 |
| 91 | positive regulation of nuclease activity (GO:0032075) | 2.80663081 |
| 92 | regulation of extracellular matrix disassembly (GO:0010715) | 2.80563810 |
| 93 | RNA localization (GO:0006403) | 2.80227036 |
| 94 | negative regulation of potassium ion transmembrane transport (GO:1901380) | 2.79638631 |
| 95 | modulation by virus of host morphology or physiology (GO:0019048) | 2.79225134 |
| 96 | stress fiber assembly (GO:0043149) | 2.77270014 |
| 97 | * gamete generation (GO:0007276) | 2.76890154 |
| 98 | chaperone-mediated protein complex assembly (GO:0051131) | 2.75214489 |
| 99 | positive regulation of Cdc42 GTPase activity (GO:0043089) | 2.75051849 |
| 100 | planar cell polarity pathway involved in neural tube closure (GO:0090179) | 2.73588191 |
| 101 | regulation of establishment of planar polarity involved in neural tube closure (GO:0090178) | 2.73284986 |
| 102 | negative regulation of fatty acid transport (GO:2000192) | 2.72347571 |
| 103 | pinocytosis (GO:0006907) | 2.70647094 |
| 104 | epithelial cell differentiation involved in prostate gland development (GO:0060742) | 2.70638726 |
| 105 | barbed-end actin filament capping (GO:0051016) | 2.69534392 |
| 106 | establishment of monopolar cell polarity (GO:0061162) | 2.69113878 |
| 107 | establishment or maintenance of monopolar cell polarity (GO:0061339) | 2.69113878 |
| 108 | glucose catabolic process (GO:0006007) | 2.67219454 |
| 109 | genitalia morphogenesis (GO:0035112) | 2.66952534 |
| 110 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 2.66732710 |
| 111 | proline metabolic process (GO:0006560) | 2.65026936 |
| 112 | glycolytic process (GO:0006096) | 2.64274432 |
| 113 | chromatin assembly (GO:0031497) | 2.63927085 |
| 114 | sexual reproduction (GO:0019953) | 2.63299332 |
| 115 | cytoplasmic mRNA processing body assembly (GO:0033962) | 2.60942255 |
| 116 | positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling | 2.60574350 |
| 117 | apoptotic process involved in morphogenesis (GO:0060561) | 2.60031662 |
| 118 | spliceosomal tri-snRNP complex assembly (GO:0000244) | 2.59335680 |
| 119 | regulation of histone H3-K9 methylation (GO:0051570) | 2.58589051 |
| 120 | negative regulation of gene expression, epigenetic (GO:0045814) | 2.58093621 |
| 121 | hippo signaling (GO:0035329) | 2.57888094 |
| 122 | polarized epithelial cell differentiation (GO:0030859) | 2.57819887 |
| 123 | sperm capacitation (GO:0048240) | 2.56820931 |
| 124 | focal adhesion assembly (GO:0048041) | 2.56632014 |
| 125 | cell-substrate adherens junction assembly (GO:0007045) | 2.56632014 |
| 126 | negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471) | 2.55443560 |
| 127 | paraxial mesoderm development (GO:0048339) | 2.55254360 |
| 128 | regulation of fatty acid beta-oxidation (GO:0031998) | 2.54825740 |
| 129 | carnitine transmembrane transport (GO:1902603) | 2.53595001 |
| 130 | fertilization (GO:0009566) | 2.52866461 |
| 131 | response to laminar fluid shear stress (GO:0034616) | 2.52335458 |
| 132 | regulation of translational termination (GO:0006449) | 2.52288901 |
| 133 | response to epidermal growth factor (GO:0070849) | 2.51928977 |
| 134 | stress granule assembly (GO:0034063) | 2.51790520 |
| 135 | regulation of mRNA stability (GO:0043488) | 2.51555442 |
| 136 | amino-acid betaine transport (GO:0015838) | 2.50705348 |
| 137 | carnitine transport (GO:0015879) | 2.50705348 |
| 138 | activation of MAPKKK activity (GO:0000185) | 2.50369917 |
| 139 | maternal placenta development (GO:0001893) | 2.48854682 |
| 140 | skin morphogenesis (GO:0043589) | 2.48851190 |
| 141 | positive regulation of blood vessel endothelial cell migration (GO:0043536) | 2.48636810 |
| 142 | cilium movement (GO:0003341) | 2.48540455 |
| 143 | negative regulation of histone methylation (GO:0031061) | 2.47932855 |
| 144 | regulation of cholesterol biosynthetic process (GO:0045540) | 2.47324319 |
| 145 | regulation of nuclease activity (GO:0032069) | 2.47273262 |
| 146 | microtubule depolymerization (GO:0007019) | 2.46305706 |
| 147 | NADPH regeneration (GO:0006740) | 2.46081343 |
| 148 | endoplasmic reticulum unfolded protein response (GO:0030968) | 2.45729102 |
| 149 | positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr | 2.45313543 |
| 150 | atrioventricular valve morphogenesis (GO:0003181) | 2.43278873 |
| 151 | ER-nucleus signaling pathway (GO:0006984) | 2.43238237 |
| 152 | protein export from nucleus (GO:0006611) | 2.42973981 |
| 153 | cellular response to virus (GO:0098586) | 2.42767752 |
| 154 | negative regulation of viral release from host cell (GO:1902187) | 2.42586495 |
| 155 | regulation of nucleobase-containing compound transport (GO:0032239) | 2.42067465 |
| 156 | low-density lipoprotein particle clearance (GO:0034383) | 2.42007809 |
| 157 | meiotic nuclear division (GO:0007126) | 2.41901105 |
| 158 | regulation of microtubule-based movement (GO:0060632) | 2.41698266 |
| 159 | microtubule severing (GO:0051013) | 2.41620051 |
| 160 | protein targeting to plasma membrane (GO:0072661) | 2.41515287 |
| 161 | vesicle coating (GO:0006901) | 2.37928613 |
| 162 | glucocorticoid receptor signaling pathway (GO:0042921) | 2.37338574 |
| 163 | regulation of ARF GTPase activity (GO:0032312) | 2.36469145 |
| 164 | branching involved in mammary gland duct morphogenesis (GO:0060444) | 2.34640115 |
| 165 | positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:00360 | 2.34633570 |
| 166 | cortical actin cytoskeleton organization (GO:0030866) | 2.32582587 |
| 167 | convergent extension (GO:0060026) | 2.31838766 |
| 168 | histone H4 deacetylation (GO:0070933) | 2.31698420 |
| 169 | NADH metabolic process (GO:0006734) | 2.29453259 |
| 170 | positive regulation of receptor recycling (GO:0001921) | 2.28595402 |
| 171 | negative regulation of myotube differentiation (GO:0010832) | 2.28543314 |
| 172 | negative regulation of striated muscle cell differentiation (GO:0051154) | 2.28042614 |
| 173 | vascular endothelial growth factor receptor signaling pathway (GO:0048010) | 2.27670713 |
| 174 | insulin-like growth factor receptor signaling pathway (GO:0048009) | 2.27150711 |
| 175 | regulation of extracellular matrix organization (GO:1903053) | 2.27122385 |
| 176 | apoptotic process involved in development (GO:1902742) | 2.26926958 |
| 177 | positive regulation of myotube differentiation (GO:0010831) | 2.26840756 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 4.46074604 |
| 2 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 3.76788247 |
| 3 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 3.00401995 |
| 4 | MYC_22102868_ChIP-Seq_BL_Human | 2.73862258 |
| 5 | * EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 2.67924648 |
| 6 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 2.64466589 |
| 7 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 2.61404001 |
| 8 | KDM2B_26808549_Chip-Seq_DND41_Human | 2.53745741 |
| 9 | TCF7_22412390_ChIP-Seq_EML_Mouse | 2.45513534 |
| 10 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 2.42688929 |
| 11 | ZNF263_19887448_ChIP-Seq_K562_Human | 2.33067372 |
| 12 | ZFP281_18757296_ChIP-ChIP_E14_Mouse | 2.32855619 |
| 13 | KDM2B_26808549_Chip-Seq_SUP-B15_Human | 2.24309400 |
| 14 | LXR_22292898_ChIP-Seq_THP-1_Human | 2.16835574 |
| 15 | KDM2B_26808549_Chip-Seq_SIL-ALL_Human | 2.14827063 |
| 16 | NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human | 2.07999670 |
| 17 | KDM2B_26808549_Chip-Seq_HPB-ALL_Human | 2.06490917 |
| 18 | ZFP281_18358816_ChIP-ChIP_MESCs_Mouse | 2.02544451 |
| 19 | ZFP281_27345836_Chip-Seq_ESCs_Mouse | 2.01200248 |
| 20 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 1.95824590 |
| 21 | SMAD3_22036565_ChIP-Seq_ESCs_Mouse | 1.91054546 |
| 22 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 1.87068666 |
| 23 | KDM2B_26808549_Chip-Seq_K562_Human | 1.86529727 |
| 24 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 1.82907922 |
| 25 | ELK3_25401928_ChIP-Seq_HUVEC_Human | 1.82489724 |
| 26 | VDR_21846776_ChIP-Seq_THP-1_Human | 1.79471919 |
| 27 | EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human | 1.69252640 |
| 28 | EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse | 1.63691323 |
| 29 | KDM2B_26808549_Chip-Seq_JURKAT_Human | 1.63199566 |
| 30 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.61842574 |
| 31 | SMAD1_18555785_ChIP-Seq_MESCs_Mouse | 1.61616812 |
| 32 | RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 1.61233174 |
| 33 | DMRT1_23473982_ChIP-Seq_TESTES_Mouse | 1.56252936 |
| 34 | P300_27058665_Chip-Seq_ZR-75-30cells_Human | 1.54613270 |
| 35 | P68_20966046_ChIP-Seq_HELA_Human | 1.54291296 |
| 36 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 1.51846602 |
| 37 | ERG_21242973_ChIP-ChIP_JURKAT_Human | 1.50592455 |
| 38 | RACK7_27058665_Chip-Seq_MCF-7_Human | 1.50542007 |
| 39 | CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat | 1.50327410 |
| 40 | TP53_22127205_ChIP-Seq_IMR90_Human | 1.48288865 |
| 41 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.47872005 |
| 42 | CREB1_26743006_Chip-Seq_LNCaP_Human | 1.46238892 |
| 43 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 1.42131580 |
| 44 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.41706056 |
| 45 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 1.41244714 |
| 46 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.40611735 |
| 47 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 1.39738532 |
| 48 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.39310116 |
| 49 | KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.37158326 |
| 50 | VDR_24763502_ChIP-Seq_THP-1_Human | 1.35587796 |
| 51 | TFAP2A_17053090_ChIP-ChIP_MCF-7_Human | 1.35484587 |
| 52 | WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 1.34272600 |
| 53 | CREB1_26743006_Chip-Seq_LNCaP-abl_Human | 1.31594223 |
| 54 | SRY_22984422_ChIP-ChIP_TESTIS_Rat | 1.30580214 |
| 55 | RUNX1_27514584_Chip-Seq_MCF-7_Human | 1.30383578 |
| 56 | CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.30227920 |
| 57 | TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 1.28869904 |
| 58 | TBX20_22080862_ChIP-Seq_HEART_Mouse | 1.28842279 |
| 59 | TBX20_22328084_ChIP-Seq_HEART_Mouse | 1.28842279 |
| 60 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.27943012 |
| 61 | ZIC3_20872845_ChIP-ChIP_MESCs_Mouse | 1.27468521 |
| 62 | UTX_26944678_Chip-Seq_JUKART_Human | 1.27004296 |
| 63 | NCOR1_26117541_ChIP-Seq_K562_Human | 1.26188527 |
| 64 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.25871052 |
| 65 | DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 1.24626842 |
| 66 | SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 1.24115406 |
| 67 | TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse | 1.23906014 |
| 68 | ATF3_27146783_Chip-Seq_COLON_Human | 1.23513710 |
| 69 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 1.22961374 |
| 70 | KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.22091458 |
| 71 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.21765117 |
| 72 | TCF3_18467660_ChIP-ChIP_MESCs_Mouse | 1.21140221 |
| 73 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.20731996 |
| 74 | KLF4_18358816_ChIP-ChIP_MESCs_Mouse | 1.19916744 |
| 75 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 1.19020292 |
| 76 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.17816727 |
| 77 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.17444897 |
| 78 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.16649947 |
| 79 | GATA1_22383799_ChIP-Seq_G1ME_Mouse | 1.15468576 |
| 80 | MAF_26560356_Chip-Seq_TH2_Human | 1.13940946 |
| 81 | BRD4_27068464_Chip-Seq_AML-cells_Mouse | 1.13872932 |
| 82 | DNAJC2_21179169_ChIP-ChIP_NT2_Human | 1.13188148 |
| 83 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.12185645 |
| 84 | GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.12151671 |
| 85 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 1.11057030 |
| 86 | MAF_26560356_Chip-Seq_TH1_Human | 1.10212963 |
| 87 | STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse | 1.10048447 |
| 88 | RUNX1_22412390_ChIP-Seq_EML_Mouse | 1.09577632 |
| 89 | UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 1.09537761 |
| 90 | NANOG_21062744_ChIP-ChIP_HESCs_Human | 1.09505647 |
| 91 | TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.09321059 |
| 92 | PKCTHETA_26484144_Chip-Seq_BREAST_Human | 1.09017651 |
| 93 | TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 1.08358227 |
| 94 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.08193307 |
| 95 | OCT4_19829295_ChIP-Seq_ESCs_Human | 1.08074910 |
| 96 | NR0B1_18358816_ChIP-ChIP_MESCs_Mouse | 1.07442555 |
| 97 | SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 1.07141699 |
| 98 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.07073189 |
| 99 | E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human | 1.06742026 |
| 100 | * FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human | 1.06000032 |
| 101 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.05684278 |
| 102 | * SREBP2_21459322_ChIP-Seq_LIVER_Mouse | 1.05283693 |
| 103 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 1.04497852 |
| 104 | GATA1_19941827_ChIP-Seq_MEL_Mouse | 1.04319366 |
| 105 | KLF4_18555785_ChIP-Seq_MESCs_Mouse | 1.04246924 |
| 106 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.03902577 |
| 107 | E2F7_22180533_ChIP-Seq_HELA_Human | 1.03541076 |
| 108 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.02877959 |
| 109 | ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.02393945 |
| 110 | SALL4_18804426_ChIP-ChIP_MESCs_Mouse | 1.00995955 |
| 111 | PPARA_22158963_ChIP-Seq_LIVER_Mouse | 1.00919371 |
| 112 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.00586214 |
| 113 | CTCF_21964334_ChIP-Seq_BJAB-B_Human | 1.00250835 |
| 114 | CTCF_27219007_Chip-Seq_ERYTHROID_Human | 0.99741814 |
| 115 | ISL1_27105846_Chip-Seq_CPCs_Mouse | 0.98664837 |
| 116 | MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human | 0.98491206 |
| 117 | POU5F1_16518401_ChIP-PET_MESCs_Mouse | 0.98196029 |
| 118 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 0.97970427 |
| 119 | SETDB1_19884255_ChIP-Seq_MESCs_Mouse | 0.97900265 |
| 120 | RARB_27405468_Chip-Seq_BRAIN_Mouse | 0.96669692 |
| 121 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 0.96599031 |
| 122 | RXR_22158963_ChIP-Seq_LIVER_Mouse | 0.96327729 |
| 123 | CLOCK_20551151_ChIP-Seq_293T_Human | 0.95732209 |
| 124 | ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.95133692 |
| 125 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 0.94542197 |
| 126 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 0.94466551 |
| 127 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 0.94273240 |
| 128 | TP53_23651856_ChIP-Seq_MEFs_Mouse | 0.94110826 |
| 129 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 0.94081176 |
| 130 | SREBP1_19666523_ChIP-Seq_LIVER_Mouse | 0.93676236 |
| 131 | GATA1_19941826_ChIP-Seq_K562_Human | 0.93625780 |
| 132 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 0.93608278 |
| 133 | UBF1/2_26484160_Chip-Seq_HMECs_Human | 0.93596265 |
| 134 | PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse | 0.93150495 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 6.04026620 |
| 2 | MP0003705_abnormal_hypodermis_morpholog | 3.96760171 |
| 3 | MP0005451_abnormal_body_composition | 3.70316566 |
| 4 | MP0002653_abnormal_ependyma_morphology | 3.11681202 |
| 5 | MP0005076_abnormal_cell_differentiation | 2.86833267 |
| 6 | MP0005058_abnormal_lysosome_morphology | 2.80756742 |
| 7 | MP0005623_abnormal_meninges_morphology | 2.58962121 |
| 8 | MP0005409_darkened_coat_color | 2.51755825 |
| 9 | MP0003698_abnormal_male_reproductive | 2.45456184 |
| 10 | MP0004233_abnormal_muscle_weight | 2.43800209 |
| 11 | MP0009278_abnormal_bone_marrow | 2.39687325 |
| 12 | MP0001929_abnormal_gametogenesis | 2.24816977 |
| 13 | MP0008961_abnormal_basal_metabolism | 2.19500846 |
| 14 | MP0008877_abnormal_DNA_methylation | 2.18898136 |
| 15 | MP0003283_abnormal_digestive_organ | 2.18629819 |
| 16 | MP0010352_gastrointestinal_tract_polyps | 2.16757090 |
| 17 | MP0008260_abnormal_autophagy | 2.16410644 |
| 18 | MP0003172_abnormal_lysosome_physiology | 2.11474578 |
| 19 | MP0000678_abnormal_parathyroid_gland | 2.01158363 |
| 20 | MP0005670_abnormal_white_adipose | 1.97695780 |
| 21 | MP0005257_abnormal_intraocular_pressure | 1.97082166 |
| 22 | MP0000751_myopathy | 1.90937982 |
| 23 | MP0009840_abnormal_foam_cell | 1.90357505 |
| 24 | MP0001849_ear_inflammation | 1.89640898 |
| 25 | MP0000733_abnormal_muscle_development | 1.88645610 |
| 26 | MP0000537_abnormal_urethra_morphology | 1.81941526 |
| 27 | MP0003453_abnormal_keratinocyte_physiol | 1.80236907 |
| 28 | MP0004197_abnormal_fetal_growth/weight/ | 1.62821006 |
| 29 | MP0010030_abnormal_orbit_morphology | 1.61914844 |
| 30 | MP0004084_abnormal_cardiac_muscle | 1.58257568 |
| 31 | MP0001730_embryonic_growth_arrest | 1.57928770 |
| 32 | MP0002210_abnormal_sex_determination | 1.56203862 |
| 33 | MP0002234_abnormal_pharynx_morphology | 1.53206022 |
| 34 | MP0004087_abnormal_muscle_fiber | 1.53125844 |
| 35 | MP0004264_abnormal_extraembryonic_tissu | 1.50966783 |
| 36 | MP0002084_abnormal_developmental_patter | 1.49290262 |
| 37 | * MP0003115_abnormal_respiratory_system | 1.48461611 |
| 38 | MP0003329_amyloid_beta_deposits | 1.47202880 |
| 39 | MP0002249_abnormal_larynx_morphology | 1.46834430 |
| 40 | MP0003566_abnormal_cell_adhesion | 1.46547358 |
| 41 | MP0000858_altered_metastatic_potential | 1.44851492 |
| 42 | MP0000566_synostosis | 1.44087007 |
| 43 | MP0002161_abnormal_fertility/fecundity | 1.43850266 |
| 44 | MP0005666_abnormal_adipose_tissue | 1.43512909 |
| 45 | MP0010630_abnormal_cardiac_muscle | 1.43074205 |
| 46 | MP0003191_abnormal_cellular_cholesterol | 1.40622014 |
| 47 | MP0003646_muscle_fatigue | 1.40504360 |
| 48 | MP0001145_abnormal_male_reproductive | 1.39502314 |
| 49 | MP0003436_decreased_susceptibility_to | 1.35381898 |
| 50 | MP0002796_impaired_skin_barrier | 1.34468570 |
| 51 | MP0002269_muscular_atrophy | 1.34303480 |
| 52 | MP0003300_gastrointestinal_ulcer | 1.32565435 |
| 53 | MP0003119_abnormal_digestive_system | 1.31639886 |
| 54 | MP0009053_abnormal_anal_canal | 1.30327751 |
| 55 | MP0004858_abnormal_nervous_system | 1.30165299 |
| 56 | MP0010307_abnormal_tumor_latency | 1.28915978 |
| 57 | MP0004185_abnormal_adipocyte_glucose | 1.28683526 |
| 58 | MP0003984_embryonic_growth_retardation | 1.28505767 |
| 59 | MP0001672_abnormal_embryogenesis/_devel | 1.28045069 |
| 60 | MP0005380_embryogenesis_phenotype | 1.28045069 |
| 61 | MP0002088_abnormal_embryonic_growth/wei | 1.27340524 |
| 62 | MP0002085_abnormal_embryonic_tissue | 1.26877287 |
| 63 | MP0005375_adipose_tissue_phenotype | 1.25120164 |
| 64 | MP0004947_skin_inflammation | 1.24964653 |
| 65 | MP0004130_abnormal_muscle_cell | 1.21952935 |
| 66 | MP0002086_abnormal_extraembryonic_tissu | 1.19234492 |
| 67 | MP0008438_abnormal_cutaneous_collagen | 1.16716544 |
| 68 | MP0010234_abnormal_vibrissa_follicle | 1.16213310 |
| 69 | MP0003111_abnormal_nucleus_morphology | 1.15928535 |
| 70 | MP0001697_abnormal_embryo_size | 1.14919442 |
| 71 | MP0000569_abnormal_digit_pigmentation | 1.14245488 |
| 72 | MP0005501_abnormal_skin_physiology | 1.14160368 |
| 73 | MP0004510_myositis | 1.12340959 |
| 74 | MP0000750_abnormal_muscle_regeneration | 1.11706749 |
| 75 | MP0002396_abnormal_hematopoietic_system | 1.11549648 |
| 76 | MP0009672_abnormal_birth_weight | 1.11280913 |
| 77 | MP0002925_abnormal_cardiovascular_devel | 1.07959861 |
| 78 | MP0002282_abnormal_trachea_morphology | 1.07125819 |
| 79 | MP0000653_abnormal_sex_gland | 1.07065282 |
| 80 | MP0000759_abnormal_skeletal_muscle | 1.05032151 |
| 81 | MP0000428_abnormal_craniofacial_morphol | 1.02224589 |
| 82 | MP0000003_abnormal_adipose_tissue | 1.02075046 |
| 83 | MP0002697_abnormal_eye_size | 1.01166776 |
| 84 | MP0003091_abnormal_cell_migration | 1.00187730 |
| 85 | MP0008995_early_reproductive_senescence | 0.99570142 |
| 86 | MP0005621_abnormal_cell_physiology | 0.99373700 |
| 87 | MP0000350_abnormal_cell_proliferation | 0.99196967 |
| 88 | MP0000266_abnormal_heart_morphology | 0.98293006 |
| 89 | * MP0002080_prenatal_lethality | 0.98171510 |
| 90 | MP0002060_abnormal_skin_morphology | 0.96931130 |
| 91 | MP0003303_peritoneal_inflammation | 0.96791754 |
| 92 | MP0003878_abnormal_ear_physiology | 0.95828323 |
| 93 | MP0005377_hearing/vestibular/ear_phenot | 0.95828323 |
| 94 | MP0003123_paternal_imprinting | 0.95729916 |
| 95 | MP0004036_abnormal_muscle_relaxation | 0.94799309 |
| 96 | MP0003279_aneurysm | 0.94235451 |
| 97 | MP0008770_decreased_survivor_rate | 0.92762713 |
| 98 | MP0003045_fibrosis | 0.92611465 |
| 99 | MP0003935_abnormal_craniofacial_develop | 0.92330556 |
| 100 | MP0002106_abnormal_muscle_physiology | 0.92051482 |
| 101 | MP0003385_abnormal_body_wall | 0.91428396 |
| 102 | MP0009703_decreased_birth_body | 0.90881785 |
| 103 | MP0009333_abnormal_splenocyte_physiolog | 0.89723595 |
| 104 | * MP0003861_abnormal_nervous_system | 0.89413884 |
| 105 | MP0002092_abnormal_eye_morphology | 0.89010584 |
| 106 | MP0009931_abnormal_skin_appearance | 0.87682670 |
| 107 | MP0002877_abnormal_melanocyte_morpholog | 0.86478748 |
| 108 | MP0001545_abnormal_hematopoietic_system | 0.85970837 |
| 109 | MP0005397_hematopoietic_system_phenotyp | 0.85970837 |
| 110 | MP0005187_abnormal_penis_morphology | 0.85483257 |
| 111 | MP0000767_abnormal_smooth_muscle | 0.85335467 |
| 112 | MP0001915_intracranial_hemorrhage | 0.84797669 |
| 113 | MP0006138_congestive_heart_failure | 0.83857665 |
| 114 | MP0004272_abnormal_basement_membrane | 0.83435676 |
| 115 | MP0005023_abnormal_wound_healing | 0.83314346 |
| 116 | MP0005330_cardiomyopathy | 0.82578968 |
| 117 | MP0004808_abnormal_hematopoietic_stem | 0.81989508 |
| 118 | MP0001293_anophthalmia | 0.81474056 |
| 119 | MP0000747_muscle_weakness | 0.79123228 |
| 120 | MP0002089_abnormal_postnatal_growth/wei | 0.79098924 |
| 121 | MP0002837_dystrophic_cardiac_calcinosis | 0.78292186 |
| 122 | MP0003567_abnormal_fetal_cardiomyocyte | 0.77211263 |
| 123 | MP0002909_abnormal_adrenal_gland | 0.75586911 |
| 124 | MP0005083_abnormal_biliary_tract | 0.74383253 |
| 125 | * MP0003942_abnormal_urinary_system | 0.74362161 |
| 126 | MP0001348_abnormal_lacrimal_gland | 0.74190692 |
| 127 | MP0002998_abnormal_bone_remodeling | 0.74012108 |
| 128 | MP0002108_abnormal_muscle_morphology | 0.73640227 |
| 129 | * MP0000534_abnormal_ureter_morphology | 0.73183034 |
| 130 | MP0002896_abnormal_bone_mineralization | 0.71701250 |
| 131 | MP0003634_abnormal_glial_cell | 0.71496623 |
| 132 | MP0005464_abnormal_platelet_physiology | 0.69684153 |
| 133 | MP0003656_abnormal_erythrocyte_physiolo | 0.69224927 |
| 134 | MP0001661_extended_life_span | 0.66465722 |
| 135 | MP0000490_abnormal_crypts_of | 0.66233004 |
| 136 | MP0005384_cellular_phenotype | 0.66042343 |
| 137 | MP0001614_abnormal_blood_vessel | 0.64590156 |
| 138 | MP0001216_abnormal_epidermal_layer | 0.64133596 |
| 139 | MP0005360_urolithiasis | 0.63974542 |
| 140 | MP0000604_amyloidosis | 0.63638221 |
| 141 | MP0004381_abnormal_hair_follicle | 0.63407309 |
| 142 | MP0002970_abnormal_white_adipose | 0.63049194 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Absent/shortened dynein arms (HP:0200106) | 3.92514025 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 3.92514025 |
| 3 | Hyperacusis (HP:0010780) | 3.79634277 |
| 4 | Abnormality of the lower motor neuron (HP:0002366) | 3.74216403 |
| 5 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.70107584 |
| 6 | Male infertility (HP:0003251) | 3.36415997 |
| 7 | Nasal polyposis (HP:0100582) | 3.30023132 |
| 8 | Cerebral aneurysm (HP:0004944) | 3.26910130 |
| 9 | Distal upper limb amyotrophy (HP:0007149) | 3.03544582 |
| 10 | Upper limb amyotrophy (HP:0009129) | 3.03544582 |
| 11 | Hand muscle atrophy (HP:0009130) | 3.00930885 |
| 12 | Infertility (HP:0000789) | 2.99417453 |
| 13 | Short 4th metacarpal (HP:0010044) | 2.99403670 |
| 14 | Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042) | 2.99403670 |
| 15 | Deep venous thrombosis (HP:0002625) | 2.92404601 |
| 16 | Abnormality of the nasal mucosa (HP:0000433) | 2.91508963 |
| 17 | Renovascular hypertension (HP:0100817) | 2.91318911 |
| 18 | Distal lower limb amyotrophy (HP:0008944) | 2.86320106 |
| 19 | Heterotopia (HP:0002282) | 2.85780845 |
| 20 | Asymmetry of the thorax (HP:0001555) | 2.85245507 |
| 21 | Renal duplication (HP:0000075) | 2.83756594 |
| 22 | Difficulty climbing stairs (HP:0003551) | 2.80443285 |
| 23 | Elfin facies (HP:0004428) | 2.78464052 |
| 24 | Difficulty running (HP:0009046) | 2.76329938 |
| 25 | Shallow orbits (HP:0000586) | 2.72679165 |
| 26 | Broad face (HP:0000283) | 2.67275240 |
| 27 | Disproportionate tall stature (HP:0001519) | 2.67055885 |
| 28 | Flat acetabular roof (HP:0003180) | 2.65158484 |
| 29 | Centrally nucleated skeletal muscle fibers (HP:0003687) | 2.63509564 |
| 30 | Neoplasm of the heart (HP:0100544) | 2.63386472 |
| 31 | Protrusio acetabuli (HP:0003179) | 2.63046404 |
| 32 | Insomnia (HP:0100785) | 2.61817209 |
| 33 | Abnormality of the 4th metacarpal (HP:0010012) | 2.59257413 |
| 34 | Hemorrhage of the eye (HP:0011885) | 2.59125801 |
| 35 | Obstructive sleep apnea (HP:0002870) | 2.57873224 |
| 36 | Hyporeflexia of lower limbs (HP:0002600) | 2.52668044 |
| 37 | Ependymoma (HP:0002888) | 2.52047796 |
| 38 | Astrocytoma (HP:0009592) | 2.51025758 |
| 39 | Abnormality of the astrocytes (HP:0100707) | 2.51025758 |
| 40 | Cholecystitis (HP:0001082) | 2.41726428 |
| 41 | Abnormal gallbladder physiology (HP:0012438) | 2.41726428 |
| 42 | Reticulocytosis (HP:0001923) | 2.40578940 |
| 43 | Bladder diverticulum (HP:0000015) | 2.40405549 |
| 44 | Chronic bronchitis (HP:0004469) | 2.40341468 |
| 45 | Vertebral compression fractures (HP:0002953) | 2.38859400 |
| 46 | Increased connective tissue (HP:0009025) | 2.36701363 |
| 47 | Lymphangioma (HP:0100764) | 2.34917709 |
| 48 | Dysmetric saccades (HP:0000641) | 2.32721878 |
| 49 | Long palpebral fissure (HP:0000637) | 2.31046900 |
| 50 | Overriding aorta (HP:0002623) | 2.29760324 |
| 51 | Ankle contracture (HP:0006466) | 2.29257730 |
| 52 | Myopathic facies (HP:0002058) | 2.23854076 |
| 53 | Bowel diverticulosis (HP:0005222) | 2.23329111 |
| 54 | Distal lower limb muscle weakness (HP:0009053) | 2.19600828 |
| 55 | Abnormal respiratory motile cilium physiology (HP:0012261) | 2.17577268 |
| 56 | Abnormal respiratory motile cilium morphology (HP:0005938) | 2.16606650 |
| 57 | Abnormal respiratory epithelium morphology (HP:0012253) | 2.16606650 |
| 58 | Abnormality of the thoracic spine (HP:0100711) | 2.14228352 |
| 59 | Ankyloglossia (HP:0010296) | 2.13912458 |
| 60 | Genu recurvatum (HP:0002816) | 2.09949530 |
| 61 | Lower limb amyotrophy (HP:0007210) | 2.08100591 |
| 62 | EMG: neuropathic changes (HP:0003445) | 2.07111788 |
| 63 | Bundle branch block (HP:0011710) | 2.06551732 |
| 64 | Pointed chin (HP:0000307) | 2.04823485 |
| 65 | Thin bony cortex (HP:0002753) | 2.04563727 |
| 66 | Rhinitis (HP:0012384) | 2.04059878 |
| 67 | Increased nuchal translucency (HP:0010880) | 2.04036302 |
| 68 | Macroorchidism (HP:0000053) | 2.01157269 |
| 69 | Asymmetric septal hypertrophy (HP:0001670) | 1.99395516 |
| 70 | Amyotrophic lateral sclerosis (HP:0007354) | 1.99078283 |
| 71 | Exercise-induced myalgia (HP:0003738) | 1.98414518 |
| 72 | Flat cornea (HP:0007720) | 1.97881170 |
| 73 | Cervical subluxation (HP:0003308) | 1.96673237 |
| 74 | Cone-shaped epiphyses of the phalanges of the hand (HP:0010230) | 1.96047417 |
| 75 | Aneurysm (HP:0002617) | 1.95633402 |
| 76 | Mitral valve prolapse (HP:0001634) | 1.94422352 |
| 77 | Mitral regurgitation (HP:0001653) | 1.91422384 |
| 78 | Exercise-induced muscle cramps (HP:0003710) | 1.90205443 |
| 79 | Ulnar bowing (HP:0003031) | 1.89971420 |
| 80 | Pseudobulbar signs (HP:0002200) | 1.88691704 |
| 81 | Spinal rigidity (HP:0003306) | 1.87818426 |
| 82 | Abnormality of the fingertips (HP:0001211) | 1.87532642 |
| 83 | Cerebral inclusion bodies (HP:0100314) | 1.87040158 |
| 84 | Mildly elevated creatine phosphokinase (HP:0008180) | 1.86986459 |
| 85 | Megalocornea (HP:0000485) | 1.86544598 |
| 86 | Hallux valgus (HP:0001822) | 1.86184260 |
| 87 | Type 1 muscle fiber predominance (HP:0003803) | 1.85574876 |
| 88 | Fibroma (HP:0010614) | 1.85531262 |
| 89 | Advanced eruption of teeth (HP:0006288) | 1.85393419 |
| 90 | Rectal prolapse (HP:0002035) | 1.85369649 |
| 91 | Deviation of the hallux (HP:0010051) | 1.84598233 |
| 92 | Fragile skin (HP:0001030) | 1.84441687 |
| 93 | Thin ribs (HP:0000883) | 1.83896385 |
| 94 | Segmental peripheral demyelination/remyelination (HP:0003481) | 1.83727690 |
| 95 | Abnormality of oral frenula (HP:0000190) | 1.82990976 |
| 96 | Increased variability in muscle fiber diameter (HP:0003557) | 1.82037828 |
| 97 | Bowel incontinence (HP:0002607) | 1.81145302 |
| 98 | Abnormality of the calcaneus (HP:0008364) | 1.80730628 |
| 99 | Truncus arteriosus (HP:0001660) | 1.79861091 |
| 100 | Hyperparathyroidism (HP:0000843) | 1.79492821 |
| 101 | Patellar dislocation (HP:0002999) | 1.79391025 |
| 102 | Enlarged penis (HP:0000040) | 1.79102836 |
| 103 | Biconcave vertebral bodies (HP:0004586) | 1.78839499 |
| 104 | Turricephaly (HP:0000262) | 1.77776417 |
| 105 | Short phalanx of the thumb (HP:0009660) | 1.75335065 |
| 106 | Broad metatarsal (HP:0001783) | 1.74431082 |
| 107 | High pitched voice (HP:0001620) | 1.74315841 |
| 108 | Fibrous tissue neoplasm (HP:0012316) | 1.74051810 |
| 109 | Arnold-Chiari malformation (HP:0002308) | 1.74021741 |
| 110 | Achilles tendon contracture (HP:0001771) | 1.73373845 |
| 111 | Short nail (HP:0001799) | 1.73228184 |
| 112 | Long toe (HP:0010511) | 1.72070866 |
| 113 | Blue sclerae (HP:0000592) | 1.71654138 |
| 114 | Cellulitis (HP:0100658) | 1.71480891 |
| 115 | Thoracic kyphosis (HP:0002942) | 1.70730893 |
| 116 | Polycythemia (HP:0001901) | 1.69333085 |
| 117 | Selective tooth agenesis (HP:0001592) | 1.68872161 |
| 118 | Buphthalmos (HP:0000557) | 1.68446687 |
| 119 | Myoglobinuria (HP:0002913) | 1.67601337 |
| 120 | Abnormality of the distal phalanx of the thumb (HP:0009617) | 1.67128399 |
| 121 | Deep palmar crease (HP:0006191) | 1.66995811 |
| 122 | Abnormal large intestine physiology (HP:0012700) | 1.66690240 |
| 123 | Sudden death (HP:0001699) | 1.66316162 |
| 124 | Easy fatigability (HP:0003388) | 1.65158715 |
| 125 | Aortic aneurysm (HP:0004942) | 1.64711887 |
| 126 | Trismus (HP:0000211) | 1.63979809 |
| 127 | Atelectasis (HP:0100750) | 1.63679344 |
| 128 | Trigonocephaly (HP:0000243) | 1.62501042 |
| 129 | Dislocated radial head (HP:0003083) | 1.61931909 |
| 130 | Premature skin wrinkling (HP:0100678) | 1.61615032 |
| 131 | Increased density of long bones (HP:0006392) | 1.61595797 |
| 132 | Abnormal ossification of hand bones (HP:0005921) | 1.61238834 |
| 133 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 1.60159872 |
| 134 | Abnormality of reticulocytes (HP:0004312) | 1.58894533 |
| 135 | Hyperthyroidism (HP:0000836) | 1.57872297 |
| 136 | Abnormality of the Achilles tendon (HP:0005109) | 1.57752017 |
| 137 | Glioma (HP:0009733) | 1.57653392 |
| 138 | Cupped ribs (HP:0000887) | 1.57006663 |
| 139 | Abnormality of skeletal muscle fiber size (HP:0012084) | 1.56578466 |
| 140 | Broad palm (HP:0001169) | 1.55697575 |
| 141 | Stridor (HP:0010307) | 1.55047050 |
| 142 | Abnormality involving the epiphyses of the upper limbs (HP:0003839) | 1.54619832 |
| 143 | Abnormality of carpal bone ossification (HP:0006257) | 1.54099036 |
| 144 | Dilatation of the ascending aorta (HP:0005111) | 1.54092503 |
| 145 | Bronchomalacia (HP:0002780) | 1.54030429 |
| 146 | Abnormality of the tricuspid valve (HP:0001702) | 1.53885151 |
| 147 | Premature rupture of membranes (HP:0001788) | 1.53828801 |
| 148 | Abnormality of the diencephalon (HP:0010662) | 1.53640754 |
| 149 | Obsessive-compulsive behavior (HP:0000722) | 1.53592948 |
| 150 | Back pain (HP:0003418) | 1.53334532 |
| 151 | Abnormality of the distal phalanges of the toes (HP:0010182) | 1.52743891 |
| 152 | Germ cell neoplasia (HP:0100728) | 1.52262977 |
| 153 | Subacute progressive viral hepatitis (HP:0006572) | 1.52249681 |
| 154 | Muscle fiber splitting (HP:0003555) | 1.51490138 |
| 155 | Decreased motor nerve conduction velocity (HP:0003431) | 1.51424164 |
| 156 | Supranuclear gaze palsy (HP:0000605) | 1.51037112 |
| 157 | Rhizomelia (HP:0008905) | 1.50832039 |
| 158 | Hypercortisolism (HP:0001578) | 1.50770244 |
| 159 | Foot dorsiflexor weakness (HP:0009027) | 1.50612680 |
| 160 | Metaphyseal cupping (HP:0003021) | 1.50145584 |
| 161 | Coxa vara (HP:0002812) | 1.49995136 |
| 162 | Sacral dimple (HP:0000960) | 1.49698009 |
| 163 | Syringomyelia (HP:0003396) | 1.49484939 |
| 164 | Spinal cord lesions (HP:0100561) | 1.49484939 |
| 165 | Precocious puberty (HP:0000826) | 1.49082990 |
| 166 | Truncal obesity (HP:0001956) | 1.48945702 |
| 167 | Short humerus (HP:0005792) | 1.46797928 |
| 168 | Urethral obstruction (HP:0000796) | 1.45927591 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TRIB3 | 4.31940865 |
| 2 | PRKD3 | 4.02913581 |
| 3 | SMG1 | 3.82937948 |
| 4 | PDK4 | 3.42144002 |
| 5 | PDK3 | 3.42144002 |
| 6 | EEF2K | 3.39865692 |
| 7 | CDK12 | 3.21382336 |
| 8 | TESK1 | 3.11011762 |
| 9 | PKN2 | 3.01499707 |
| 10 | MAP3K10 | 2.97630774 |
| 11 | PRPF4B | 2.97388798 |
| 12 | IRAK3 | 2.29317261 |
| 13 | RIPK1 | 2.07876089 |
| 14 | TYRO3 | 2.07680102 |
| 15 | TTN | 2.03771097 |
| 16 | NEK2 | 1.94300116 |
| 17 | PDGFRA | 1.74295027 |
| 18 | PDK2 | 1.71641263 |
| 19 | CAMK1G | 1.70060177 |
| 20 | ERN1 | 1.65081321 |
| 21 | PTK6 | 1.58971700 |
| 22 | MTOR | 1.54937547 |
| 23 | MAP2K3 | 1.51446069 |
| 24 | STK38 | 1.42005855 |
| 25 | * ICK | 1.39481263 |
| 26 | BMX | 1.34664541 |
| 27 | SIK1 | 1.30394708 |
| 28 | DYRK1B | 1.26672001 |
| 29 | CAMK1D | 1.23626778 |
| 30 | NEK1 | 1.21528175 |
| 31 | PAK4 | 1.20787554 |
| 32 | ALK | 1.18984911 |
| 33 | LATS2 | 1.18837439 |
| 34 | PTK2B | 1.17470756 |
| 35 | TAOK2 | 1.17154391 |
| 36 | TAOK1 | 1.14449971 |
| 37 | NME2 | 1.11089162 |
| 38 | LATS1 | 1.09314207 |
| 39 | NTRK1 | 1.09307217 |
| 40 | MAP3K11 | 1.07707679 |
| 41 | DDR2 | 1.05454424 |
| 42 | MAP3K13 | 1.03094693 |
| 43 | PAK2 | 1.01082104 |
| 44 | PNCK | 1.00702595 |
| 45 | RIPK4 | 0.99813737 |
| 46 | PAK6 | 0.99020042 |
| 47 | DMPK | 0.98706572 |
| 48 | MST1R | 0.96002142 |
| 49 | SIK2 | 0.95506788 |
| 50 | MAP3K1 | 0.93745012 |
| 51 | EPHB2 | 0.88732892 |
| 52 | MAP3K3 | 0.86142934 |
| 53 | CDK6 | 0.85997251 |
| 54 | MAP3K9 | 0.85467325 |
| 55 | MAP3K6 | 0.84245871 |
| 56 | CDC7 | 0.83294708 |
| 57 | LMTK2 | 0.82829294 |
| 58 | PTK2 | 0.82393594 |
| 59 | ARAF | 0.81505359 |
| 60 | CDK4 | 0.80421166 |
| 61 | BRD4 | 0.78662453 |
| 62 | FGFR3 | 0.78644730 |
| 63 | SCYL2 | 0.77067920 |
| 64 | HIPK2 | 0.74953936 |
| 65 | STK3 | 0.74843716 |
| 66 | KSR2 | 0.74404764 |
| 67 | MAPK11 | 0.70244299 |
| 68 | RET | 0.70022520 |
| 69 | BRAF | 0.69347631 |
| 70 | CAMKK1 | 0.69198854 |
| 71 | PDGFRB | 0.68164586 |
| 72 | MAP4K1 | 0.66457775 |
| 73 | LRRK2 | 0.65305259 |
| 74 | FGFR1 | 0.64672743 |
| 75 | WNK1 | 0.63238745 |
| 76 | MARK2 | 0.60789887 |
| 77 | CHEK1 | 0.58709268 |
| 78 | MAP3K7 | 0.58502437 |
| 79 | PASK | 0.58118386 |
| 80 | RPS6KA1 | 0.57991906 |
| 81 | SIK3 | 0.57522068 |
| 82 | MAP2K2 | 0.57388245 |
| 83 | WNK4 | 0.56748219 |
| 84 | PDK1 | 0.55929157 |
| 85 | CDC42BPA | 0.55448080 |
| 86 | EPHB1 | 0.53662888 |
| 87 | TTK | 0.53281270 |
| 88 | FGFR4 | 0.53075797 |
| 89 | RPS6KA2 | 0.52672419 |
| 90 | IRAK4 | 0.52426969 |
| 91 | STK10 | 0.52203864 |
| 92 | SGK3 | 0.52060550 |
| 93 | MAP3K2 | 0.51918539 |
| 94 | ZAP70 | 0.51561106 |
| 95 | NTRK2 | 0.51307486 |
| 96 | PRKG2 | 0.48699499 |
| 97 | PRKAA1 | 0.47819445 |
| 98 | IRAK2 | 0.47348605 |
| 99 | MET | 0.45241368 |
| 100 | KSR1 | 0.44977080 |
| 101 | STK11 | 0.44634924 |
| 102 | PRKCH | 0.44194970 |
| 103 | MAPK12 | 0.43784122 |
| 104 | TYK2 | 0.43723907 |
| 105 | CDK9 | 0.43491136 |
| 106 | ILK | 0.42912782 |
| 107 | CLK1 | 0.42573964 |
| 108 | CDK2 | 0.42525696 |
| 109 | MAP3K8 | 0.41426161 |
| 110 | PDPK1 | 0.41141080 |
| 111 | ERBB2 | 0.41042099 |
| 112 | UHMK1 | 0.40688255 |
| 113 | TBK1 | 0.40174976 |
| 114 | PHKG2 | 0.39848518 |
| 115 | PHKG1 | 0.39848518 |
| 116 | RPS6KB2 | 0.38660447 |
| 117 | PAK1 | 0.38517104 |
| 118 | RPS6KA6 | 0.37990512 |
| 119 | CDK7 | 0.37292779 |
| 120 | FGFR2 | 0.37059744 |
| 121 | AKT2 | 0.36373581 |
| 122 | PRKD2 | 0.35805165 |
| 123 | TESK2 | 0.35251829 |
| 124 | MOS | 0.34872830 |
| 125 | DAPK2 | 0.34628326 |
| 126 | MAPKAPK2 | 0.33943692 |
| 127 | CDK11A | 0.33719889 |
| 128 | PRKD1 | 0.33118839 |
| 129 | MAPK8 | 0.32529648 |
| 130 | CSNK1D | 0.32482320 |
| 131 | DYRK3 | 0.32140392 |
| 132 | RPS6KL1 | 0.31935441 |
| 133 | RPS6KC1 | 0.31935441 |
| 134 | ATR | 0.31828510 |
| 135 | EPHA2 | 0.31701117 |
| 136 | MAPK10 | 0.31050375 |
| 137 | GSK3B | 0.28727312 |
| 138 | MAPK1 | 0.27713706 |
| 139 | CSNK1E | 0.25851965 |
| 140 | CDK1 | 0.25083809 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Other glycan degradation_Homo sapiens_hsa00511 | 2.18210491 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 2.10549971 |
| 3 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.94134069 |
| 4 | mTOR signaling pathway_Homo sapiens_hsa04150 | 1.79146647 |
| 5 | Thyroid cancer_Homo sapiens_hsa05216 | 1.73784657 |
| 6 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 1.68859679 |
| 7 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.65678785 |
| 8 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 1.64822310 |
| 9 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.64296224 |
| 10 | Lysine degradation_Homo sapiens_hsa00310 | 1.61386900 |
| 11 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.59857271 |
| 12 | Prion diseases_Homo sapiens_hsa05020 | 1.59743263 |
| 13 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.58683701 |
| 14 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 1.54975954 |
| 15 | Basal cell carcinoma_Homo sapiens_hsa05217 | 1.53476461 |
| 16 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 1.52040722 |
| 17 | Notch signaling pathway_Homo sapiens_hsa04330 | 1.49491945 |
| 18 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 1.44472903 |
| 19 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.42296296 |
| 20 | VEGF signaling pathway_Homo sapiens_hsa04370 | 1.39931168 |
| 21 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 1.38671146 |
| 22 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.38548215 |
| 23 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 1.32984876 |
| 24 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.32619774 |
| 25 | Adherens junction_Homo sapiens_hsa04520 | 1.32370443 |
| 26 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 1.31007414 |
| 27 | AMPK signaling pathway_Homo sapiens_hsa04152 | 1.30682463 |
| 28 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 1.30317253 |
| 29 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 1.28832476 |
| 30 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 1.26431487 |
| 31 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 1.25099883 |
| 32 | Endometrial cancer_Homo sapiens_hsa05213 | 1.24922454 |
| 33 | Insulin resistance_Homo sapiens_hsa04931 | 1.24135888 |
| 34 | Hippo signaling pathway_Homo sapiens_hsa04390 | 1.23766384 |
| 35 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 1.22458630 |
| 36 | Glioma_Homo sapiens_hsa05214 | 1.21904829 |
| 37 | Focal adhesion_Homo sapiens_hsa04510 | 1.21791675 |
| 38 | Insulin signaling pathway_Homo sapiens_hsa04910 | 1.20087139 |
| 39 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.14811859 |
| 40 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.14512759 |
| 41 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 1.12918140 |
| 42 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.11566734 |
| 43 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.11091380 |
| 44 | Galactose metabolism_Homo sapiens_hsa00052 | 1.10772338 |
| 45 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.10656274 |
| 46 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 1.09992767 |
| 47 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 1.08255633 |
| 48 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.07780403 |
| 49 | Bladder cancer_Homo sapiens_hsa05219 | 1.06072704 |
| 50 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.05162948 |
| 51 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 1.03735611 |
| 52 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 1.03036752 |
| 53 | Small cell lung cancer_Homo sapiens_hsa05222 | 1.01905425 |
| 54 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 1.01372847 |
| 55 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 1.01306659 |
| 56 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 1.00403052 |
| 57 | GnRH signaling pathway_Homo sapiens_hsa04912 | 1.00395322 |
| 58 | Viral myocarditis_Homo sapiens_hsa05416 | 0.98356415 |
| 59 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.97766010 |
| 60 | Renal cell carcinoma_Homo sapiens_hsa05211 | 0.96618894 |
| 61 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.95926680 |
| 62 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.95792803 |
| 63 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.94759349 |
| 64 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.94074039 |
| 65 | Colorectal cancer_Homo sapiens_hsa05210 | 0.94001201 |
| 66 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.92608983 |
| 67 | Hepatitis B_Homo sapiens_hsa05161 | 0.92190666 |
| 68 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.92096897 |
| 69 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.91964297 |
| 70 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.90696283 |
| 71 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.90020366 |
| 72 | Carbon metabolism_Homo sapiens_hsa01200 | 0.89898370 |
| 73 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 0.89122342 |
| 74 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.88809325 |
| 75 | Tight junction_Homo sapiens_hsa04530 | 0.88607341 |
| 76 | Hepatitis C_Homo sapiens_hsa05160 | 0.86752982 |
| 77 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.85952843 |
| 78 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.85724413 |
| 79 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.83991449 |
| 80 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.83095075 |
| 81 | RNA transport_Homo sapiens_hsa03013 | 0.81996301 |
| 82 | Apoptosis_Homo sapiens_hsa04210 | 0.81829447 |
| 83 | HTLV-I infection_Homo sapiens_hsa05166 | 0.81320123 |
| 84 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.80789735 |
| 85 | Endocytosis_Homo sapiens_hsa04144 | 0.79431940 |
| 86 | Bile secretion_Homo sapiens_hsa04976 | 0.79346033 |
| 87 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 0.77553818 |
| 88 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.76847306 |
| 89 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.76783921 |
| 90 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.76079839 |
| 91 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.75981484 |
| 92 | Osteoclast differentiation_Homo sapiens_hsa04380 | 0.74770494 |
| 93 | Amoebiasis_Homo sapiens_hsa05146 | 0.73155253 |
| 94 | Toll-like receptor signaling pathway_Homo sapiens_hsa04620 | 0.73042975 |
| 95 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.68985240 |
| 96 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.68779104 |
| 97 | Gap junction_Homo sapiens_hsa04540 | 0.68715859 |
| 98 | Long-term potentiation_Homo sapiens_hsa04720 | 0.68572319 |
| 99 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.68306848 |
| 100 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.67680305 |
| 101 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.67585571 |
| 102 | Fc epsilon RI signaling pathway_Homo sapiens_hsa04664 | 0.67128373 |
| 103 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.67022563 |
| 104 | Axon guidance_Homo sapiens_hsa04360 | 0.66803379 |
| 105 | Melanogenesis_Homo sapiens_hsa04916 | 0.66592600 |
| 106 | Shigellosis_Homo sapiens_hsa05131 | 0.64070023 |
| 107 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.63368219 |
| 108 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.62503634 |
| 109 | Influenza A_Homo sapiens_hsa05164 | 0.62416591 |
| 110 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.62358839 |
| 111 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.61813778 |
| 112 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.61417782 |
| 113 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.61290351 |
| 114 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.60953786 |
| 115 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.60797454 |
| 116 | Renin secretion_Homo sapiens_hsa04924 | 0.60313469 |
| 117 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.59200429 |
| 118 | Salmonella infection_Homo sapiens_hsa05132 | 0.58591029 |
| 119 | Chagas disease (American trypanosomiasis)_Homo sapiens_hsa05142 | 0.58067778 |
| 120 | Pathways in cancer_Homo sapiens_hsa05200 | 0.58036146 |
| 121 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.57924051 |
| 122 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.57884258 |
| 123 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.57023434 |
| 124 | T cell receptor signaling pathway_Homo sapiens_hsa04660 | 0.56585073 |
| 125 | FoxO signaling pathway_Homo sapiens_hsa04068 | 0.55987729 |
| 126 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.55158316 |
| 127 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.55057242 |
| 128 | Prostate cancer_Homo sapiens_hsa05215 | 0.54806715 |
| 129 | TNF signaling pathway_Homo sapiens_hsa04668 | 0.54112760 |
| 130 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.49541523 |
| 131 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.47957029 |
| 132 | Leishmaniasis_Homo sapiens_hsa05140 | 0.47610289 |

