

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm motility (GO:0030317) | 9.08512390 |
| 2 | fusion of sperm to egg plasma membrane (GO:0007342) | 8.20643388 |
| 3 | cell wall macromolecule catabolic process (GO:0016998) | 8.00803607 |
| 4 | cell wall macromolecule metabolic process (GO:0044036) | 8.00803607 |
| 5 | sperm-egg recognition (GO:0035036) | 7.91073731 |
| 6 | acrosome reaction (GO:0007340) | 7.71802025 |
| 7 | binding of sperm to zona pellucida (GO:0007339) | 7.53469427 |
| 8 | epithelial cilium movement (GO:0003351) | 7.30358289 |
| 9 | axonemal dynein complex assembly (GO:0070286) | 7.26701944 |
| 10 | acrosome assembly (GO:0001675) | 7.01082799 |
| 11 | motile cilium assembly (GO:0044458) | 6.95031549 |
| 12 | cell-cell recognition (GO:0009988) | 6.89509308 |
| 13 | regulation of cilium movement (GO:0003352) | 6.80083449 |
| 14 | multicellular organism reproduction (GO:0032504) | 6.75529370 |
| 15 | spermatid development (GO:0007286) | 6.46972514 |
| 16 | plasma membrane fusion (GO:0045026) | 6.14347050 |
| 17 | cilium or flagellum-dependent cell motility (GO:0001539) | 6.11061807 |
| 18 | piRNA metabolic process (GO:0034587) | 5.97519327 |
| 19 | cilium movement (GO:0003341) | 5.94734211 |
| 20 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 5.83005032 |
| 21 | reproduction (GO:0000003) | 5.66800571 |
| 22 | male meiosis (GO:0007140) | 5.63405954 |
| 23 | synaptonemal complex organization (GO:0070193) | 5.25564551 |
| 24 | energy coupled proton transport, down electrochemical gradient (GO:0015985) | 5.24931593 |
| 25 | ATP synthesis coupled proton transport (GO:0015986) | 5.24931593 |
| 26 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 5.17598299 |
| 27 | deoxyribonucleoside monophosphate metabolic process (GO:0009162) | 5.10467802 |
| 28 | synaptonemal complex assembly (GO:0007130) | 5.08918113 |
| 29 | single fertilization (GO:0007338) | 5.07187639 |
| 30 | establishment of protein localization to mitochondrial membrane (GO:0090151) | 5.04529464 |
| 31 | sperm capacitation (GO:0048240) | 4.94488157 |
| 32 | microtubule depolymerization (GO:0007019) | 4.80018366 |
| 33 | mitochondrial electron transport, NADH to ubiquinone (GO:0006120) | 4.66421170 |
| 34 | DNA deamination (GO:0045006) | 4.61694099 |
| 35 | regulation of mitochondrial translation (GO:0070129) | 4.57293746 |
| 36 | sequestering of actin monomers (GO:0042989) | 4.55416558 |
| 37 | * spermatogenesis (GO:0007283) | 4.51556584 |
| 38 | * male gamete generation (GO:0048232) | 4.50310674 |
| 39 | establishment of integrated proviral latency (GO:0075713) | 4.44472933 |
| 40 | respiratory electron transport chain (GO:0022904) | 4.42973777 |
| 41 | electron transport chain (GO:0022900) | 4.35710167 |
| 42 | fertilization (GO:0009566) | 4.31014285 |
| 43 | GTP biosynthetic process (GO:0006183) | 4.30873678 |
| 44 | protein maturation by protein folding (GO:0022417) | 4.24637404 |
| 45 | * gamete generation (GO:0007276) | 4.14904432 |
| 46 | single strand break repair (GO:0000012) | 4.10678370 |
| 47 | DNA methylation involved in gamete generation (GO:0043046) | 4.07827021 |
| 48 | transcription elongation from RNA polymerase III promoter (GO:0006385) | 4.04327877 |
| 49 | termination of RNA polymerase III transcription (GO:0006386) | 4.04327877 |
| 50 | mitochondrial respiratory chain complex I assembly (GO:0032981) | 4.04045003 |
| 51 | NADH dehydrogenase complex assembly (GO:0010257) | 4.04045003 |
| 52 | mitochondrial respiratory chain complex I biogenesis (GO:0097031) | 4.04045003 |
| 53 | organic cation transport (GO:0015695) | 4.03302204 |
| 54 | protein targeting to mitochondrion (GO:0006626) | 4.00126519 |
| 55 | ribosomal small subunit biogenesis (GO:0042274) | 3.99125461 |
| 56 | establishment of viral latency (GO:0019043) | 3.96930727 |
| 57 | regulation of inclusion body assembly (GO:0090083) | 3.96724990 |
| 58 | regulation of microtubule-based movement (GO:0060632) | 3.88022630 |
| 59 | cullin deneddylation (GO:0010388) | 3.86183458 |
| 60 | protein deneddylation (GO:0000338) | 3.84519672 |
| 61 | DNA strand elongation involved in DNA replication (GO:0006271) | 3.80927528 |
| 62 | guanosine-containing compound biosynthetic process (GO:1901070) | 3.80714445 |
| 63 | oxidative phosphorylation (GO:0006119) | 3.79765720 |
| 64 | protein neddylation (GO:0045116) | 3.73243264 |
| 65 | positive regulation of ubiquitin-protein transferase activity (GO:0051443) | 3.71747460 |
| 66 | establishment of protein localization to mitochondrion (GO:0072655) | 3.71363684 |
| 67 | nucleoside diphosphate phosphorylation (GO:0006165) | 3.70807818 |
| 68 | pyrimidine deoxyribonucleotide catabolic process (GO:0009223) | 3.69972672 |
| 69 | UTP biosynthetic process (GO:0006228) | 3.68331783 |
| 70 | DNA strand elongation (GO:0022616) | 3.67846702 |
| 71 | male meiosis I (GO:0007141) | 3.66327734 |
| 72 | telomere maintenance via semi-conservative replication (GO:0032201) | 3.64373095 |
| 73 | protein localization to mitochondrion (GO:0070585) | 3.63822672 |
| 74 | calcium ion-dependent exocytosis (GO:0017156) | 3.62608649 |
| 75 | negative regulation of inclusion body assembly (GO:0090084) | 3.57376495 |
| 76 | positive regulation of ligase activity (GO:0051351) | 3.56525756 |
| 77 | germ cell development (GO:0007281) | 3.54967916 |
| 78 | ribosomal small subunit assembly (GO:0000028) | 3.50485635 |
| 79 | chromosome organization involved in meiosis (GO:0070192) | 3.50206559 |
| 80 | protein localization to cilium (GO:0061512) | 3.49751463 |
| 81 | meiotic nuclear division (GO:0007126) | 3.46159019 |
| 82 | chromatin remodeling at centromere (GO:0031055) | 3.46127949 |
| 83 | microtubule severing (GO:0051013) | 3.44796029 |
| 84 | RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394) | 3.43981151 |
| 85 | tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) | 3.43981151 |
| 86 | spliceosomal snRNP assembly (GO:0000387) | 3.43764145 |
| 87 | regulation of cellular amino acid metabolic process (GO:0006521) | 3.41294847 |
| 88 | CENP-A containing nucleosome assembly (GO:0034080) | 3.39758772 |
| 89 | respiratory chain complex IV assembly (GO:0008535) | 3.39737637 |
| 90 | regulation of ubiquitin-protein transferase activity (GO:0051438) | 3.39471825 |
| 91 | glycerol ether metabolic process (GO:0006662) | 3.37225868 |
| 92 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.36738937 |
| 93 | chaperone-mediated protein transport (GO:0072321) | 3.35825418 |
| 94 | pseudouridine synthesis (GO:0001522) | 3.35644626 |
| 95 | rRNA modification (GO:0000154) | 3.34268483 |
| 96 | maturation of SSU-rRNA (GO:0030490) | 3.34116891 |
| 97 | ATP biosynthetic process (GO:0006754) | 3.34091758 |
| 98 | kinetochore assembly (GO:0051382) | 3.34078259 |
| 99 | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436) | 3.33823567 |
| 100 | cytochrome complex assembly (GO:0017004) | 3.31910641 |
| 101 | DNA replication checkpoint (GO:0000076) | 3.31320109 |
| 102 | CTP metabolic process (GO:0046036) | 3.31087032 |
| 103 | CTP biosynthetic process (GO:0006241) | 3.31087032 |
| 104 | peptidyl-histidine modification (GO:0018202) | 3.30168070 |
| 105 | pyrimidine deoxyribonucleotide metabolic process (GO:0009219) | 3.29139787 |
| 106 | proteasome assembly (GO:0043248) | 3.28529765 |
| 107 | regulation of ligase activity (GO:0051340) | 3.28034471 |
| 108 | translation (GO:0006412) | 3.27296922 |
| 109 | intraciliary transport (GO:0042073) | 3.26944120 |
| 110 | protein polyglutamylation (GO:0018095) | 3.25478018 |
| 111 | viral transcription (GO:0019083) | 3.24800909 |
| 112 | spermatid nucleus differentiation (GO:0007289) | 3.23608624 |
| 113 | negative regulation of ubiquitin-protein transferase activity (GO:0051444) | 3.22245956 |
| 114 | negative regulation of ligase activity (GO:0051352) | 3.22245956 |
| 115 | meiosis I (GO:0007127) | 3.21880476 |
| 116 | UTP metabolic process (GO:0046051) | 3.21788295 |
| 117 | ether metabolic process (GO:0018904) | 3.19372640 |
| 118 | cellular component biogenesis (GO:0044085) | 3.19292035 |
| 119 | translational termination (GO:0006415) | 3.17829014 |
| 120 | * multicellular organismal reproductive process (GO:0048609) | 3.17600588 |
| 121 | ribosomal large subunit biogenesis (GO:0042273) | 3.17203595 |
| 122 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00 | 3.16327786 |
| 123 | SRP-dependent cotranslational protein targeting to membrane (GO:0006614) | 3.15820343 |
| 124 | nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291) | 3.15388592 |
| 125 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) | 3.15041109 |
| 126 | DNA packaging (GO:0006323) | 3.14774546 |
| 127 | protein complex biogenesis (GO:0070271) | 3.12378822 |
| 128 | cell recognition (GO:0008037) | 3.12026919 |
| 129 | seminiferous tubule development (GO:0072520) | 3.11801491 |
| 130 | cotranslational protein targeting to membrane (GO:0006613) | 3.11716502 |
| 131 | chromosome condensation (GO:0030261) | 3.11712261 |
| 132 | transcription-coupled nucleotide-excision repair (GO:0006283) | 3.11511770 |
| 133 | regulation of cellular amine metabolic process (GO:0033238) | 3.10816844 |
| 134 | ribonucleoside triphosphate biosynthetic process (GO:0009201) | 3.10314481 |
| 135 | positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437) | 3.08637692 |
| 136 | pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148) | 3.07200333 |
| 137 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 3.06990838 |
| 138 | signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431) | 3.06127428 |
| 139 | intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400) | 3.06127428 |
| 140 | protein targeting to ER (GO:0045047) | 3.05628665 |
| 141 | chaperone-mediated protein complex assembly (GO:0051131) | 3.03449410 |
| 142 | signal transduction involved in mitotic cell cycle checkpoint (GO:0072413) | 3.03104428 |
| 143 | signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403) | 3.03104428 |
| 144 | signal transduction involved in mitotic DNA damage checkpoint (GO:1902402) | 3.03104428 |
| 145 | kinetochore organization (GO:0051383) | 3.02024889 |
| 146 | mitochondrial respiratory chain complex assembly (GO:0033108) | 3.00352103 |
| 147 | rRNA processing (GO:0006364) | 3.00214990 |
| 148 | translational elongation (GO:0006414) | 2.97921540 |
| 149 | positive regulation of mitochondrial fission (GO:0090141) | 2.97791453 |
| 150 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0 | 2.97584153 |
| 151 | base-excision repair, AP site formation (GO:0006285) | 2.97404392 |
| 152 | DNA damage response, signal transduction by p53 class mediator (GO:0030330) | 2.97081553 |
| 153 | protein localization to endoplasmic reticulum (GO:0070972) | 2.96570910 |
| 154 | ventricular system development (GO:0021591) | 2.96395883 |
| 155 | negative regulation of protein ubiquitination (GO:0031397) | 2.95453419 |
| 156 | positive regulation of cell cycle arrest (GO:0071158) | 2.95254697 |
| 157 | pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209) | 2.91875419 |
| 158 | metallo-sulfur cluster assembly (GO:0031163) | 2.91652949 |
| 159 | iron-sulfur cluster assembly (GO:0016226) | 2.91652949 |
| 160 | 7-methylguanosine mRNA capping (GO:0006370) | 2.88151888 |
| 161 | purine ribonucleoside triphosphate biosynthetic process (GO:0009206) | 2.87719673 |
| 162 | signal transduction involved in DNA damage checkpoint (GO:0072422) | 2.87068976 |
| 163 | signal transduction involved in DNA integrity checkpoint (GO:0072401) | 2.87068976 |
| 164 | signal transduction involved in cell cycle checkpoint (GO:0072395) | 2.85028040 |
| 165 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO: | 2.85008249 |
| 166 | purine nucleoside triphosphate biosynthetic process (GO:0009145) | 2.84391451 |
| 167 | pyrimidine nucleoside triphosphate metabolic process (GO:0009147) | 2.83248685 |
| 168 | protein refolding (GO:0042026) | 2.82887004 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 7.15132034 |
| 2 | E2F7_22180533_ChIP-Seq_HELA_Human | 4.63477810 |
| 3 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 3.66013818 |
| 4 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 3.51808831 |
| 5 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 3.31479933 |
| 6 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 3.31268165 |
| 7 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 3.26056154 |
| 8 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 3.05633450 |
| 9 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 2.93184036 |
| 10 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 2.75348327 |
| 11 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 2.61771448 |
| 12 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 2.56415014 |
| 13 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 2.43203564 |
| 14 | * MYC_18358816_ChIP-ChIP_MESCs_Mouse | 2.16936795 |
| 15 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 2.16325327 |
| 16 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 2.14134288 |
| 17 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 2.11989420 |
| 18 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 2.09089257 |
| 19 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 2.07021660 |
| 20 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.00408464 |
| 21 | SRF_21415370_ChIP-Seq_HL-1_Mouse | 1.98720840 |
| 22 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 1.96382413 |
| 23 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 1.95850198 |
| 24 | ELK1_19687146_ChIP-ChIP_HELA_Human | 1.95492867 |
| 25 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 1.92447660 |
| 26 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.92202348 |
| 27 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.79203588 |
| 28 | CEBPB_24764292_ChIP-Seq_MC3T3_Mouse | 1.79055767 |
| 29 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 1.78856761 |
| 30 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 1.78400121 |
| 31 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.77138622 |
| 32 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.72696156 |
| 33 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 1.72155462 |
| 34 | * VDR_23849224_ChIP-Seq_CD4+_Human | 1.65115217 |
| 35 | VDR_22108803_ChIP-Seq_LS180_Human | 1.64652678 |
| 36 | * GABP_19822575_ChIP-Seq_HepG2_Human | 1.63981683 |
| 37 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 1.62961583 |
| 38 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.61757236 |
| 39 | SRY_22984422_ChIP-ChIP_TESTIS_Rat | 1.56902105 |
| 40 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.55379369 |
| 41 | * SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 1.54923103 |
| 42 | SIN3A_21632747_ChIP-Seq_MESCs_Mouse | 1.53985879 |
| 43 | * FLI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.47935140 |
| 44 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 1.44217367 |
| 45 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.43685811 |
| 46 | FOXP3_21729870_ChIP-Seq_TREG_Human | 1.43139351 |
| 47 | * GATA3_21867929_ChIP-Seq_CD8_Mouse | 1.43096823 |
| 48 | KDM5A_27292631_Chip-Seq_BREAST_Human | 1.42988619 |
| 49 | CTCF_18555785_ChIP-Seq_MESCs_Mouse | 1.42866303 |
| 50 | ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.42767304 |
| 51 | YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.41692503 |
| 52 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.41527532 |
| 53 | NANOG_18555785_ChIP-Seq_MESCs_Mouse | 1.40836585 |
| 54 | XRN2_22483619_ChIP-Seq_HELA_Human | 1.38857567 |
| 55 | * DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 1.38845928 |
| 56 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.37964726 |
| 57 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 1.36039190 |
| 58 | * MYC_18940864_ChIP-ChIP_HL60_Human | 1.35365362 |
| 59 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 1.34429511 |
| 60 | CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 1.33837347 |
| 61 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.32661159 |
| 62 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 1.29965264 |
| 63 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.25844954 |
| 64 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.24122956 |
| 65 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.21473376 |
| 66 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 1.19300869 |
| 67 | BCL3_23251550_ChIP-Seq_MUSCLE_Mouse | 1.18663317 |
| 68 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.18635564 |
| 69 | ELK1_22589737_ChIP-Seq_MCF10A_Human | 1.18041386 |
| 70 | HNF4A_19761587_ChIP-ChIP_CACO-2_Human | 1.17610760 |
| 71 | E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human | 1.17412790 |
| 72 | PADI4_21655091_ChIP-ChIP_MCF-7_Human | 1.15966564 |
| 73 | * E2F1_18555785_ChIP-Seq_MESCs_Mouse | 1.15897515 |
| 74 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 1.14826953 |
| 75 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.14409239 |
| 76 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.14058694 |
| 77 | FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.13523678 |
| 78 | * CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 1.13166669 |
| 79 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.12185978 |
| 80 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.11761318 |
| 81 | GATA3_21867929_ChIP-Seq_TH1_Mouse | 1.10888188 |
| 82 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.10786338 |
| 83 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.10524101 |
| 84 | ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 1.10222122 |
| 85 | FOXP1_21924763_ChIP-Seq_HESCs_Human | 1.07708389 |
| 86 | ERG_20887958_ChIP-Seq_HPC-7_Mouse | 1.07457421 |
| 87 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 1.06091170 |
| 88 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.05325789 |
| 89 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.03745473 |
| 90 | ZNF263_19887448_ChIP-Seq_K562_Human | 1.03200495 |
| 91 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.02923811 |
| 92 | * MYC_19079543_ChIP-ChIP_MESCs_Mouse | 1.02710423 |
| 93 | LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.02154909 |
| 94 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 1.02065238 |
| 95 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 1.01809846 |
| 96 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.00955827 |
| 97 | RUNX1_20887958_ChIP-Seq_HPC-7_Mouse | 1.00406641 |
| 98 | MEIS1_20887958_ChIP-Seq_HPC-7_Mouse | 0.99929523 |
| 99 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 0.99646144 |
| 100 | * FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 0.99540359 |
| 101 | KLF4_19030024_ChIP-ChIP_MESCs_Mouse | 0.99305127 |
| 102 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 0.98668858 |
| 103 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 0.97398185 |
| 104 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 0.96387735 |
| 105 | CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human | 0.96318585 |
| 106 | TAL1_20887958_ChIP-Seq_HPC-7_Mouse | 0.96180327 |
| 107 | CTCF_26484167_Chip-Seq_Bcells_Mouse | 0.95905958 |
| 108 | SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 0.95454757 |
| 109 | KLF4_18555785_ChIP-Seq_MESCs_Mouse | 0.95148832 |
| 110 | * CTCF_20526341_ChIP-Seq_ESCs_Human | 0.94108809 |
| 111 | SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.93249423 |
| 112 | TBX5_21415370_ChIP-Seq_HL-1_Mouse | 0.92367498 |
| 113 | PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse | 0.92146147 |
| 114 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 0.91924707 |
| 115 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 0.91340803 |
| 116 | HOXB4_20404135_ChIP-ChIP_EML_Mouse | 0.90654953 |
| 117 | TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse | 0.89916210 |
| 118 | * SFPI1_20887958_ChIP-Seq_HPC-7_Mouse | 0.88821646 |
| 119 | P53_21459846_ChIP-Seq_SAOS-2_Human | 0.88358113 |
| 120 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 0.88351014 |
| 121 | CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.88012573 |
| 122 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 0.87392623 |
| 123 | SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse | 0.87322189 |
| 124 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 0.87059335 |
| 125 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 0.87033427 |
| 126 | STAT1_20625510_ChIP-Seq_HELA_Human | 0.86986536 |
| 127 | SOX2_18555785_ChIP-Seq_MESCs_Mouse | 0.86822668 |
| 128 | * PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 0.85809871 |
| 129 | SPI1_26923725_Chip-Seq_HPCs_Mouse | 0.84565986 |
| 130 | PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse | 0.84308606 |
| 131 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 0.84304513 |
| 132 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 0.84175072 |
| 133 | TFEB_21752829_ChIP-Seq_HELA_Human | 0.84137002 |
| 134 | POU5F1_18358816_ChIP-ChIP_MESCs_Mouse | 0.83990407 |
| 135 | ASH2L_23239880_ChIP-Seq_MESCs_Mouse | 0.83784605 |
| 136 | CNOT3_19339689_ChIP-ChIP_MESCs_Mouse | 0.83644803 |
| 137 | NANOG_16153702_ChIP-ChIP_HESCs_Human | 0.83580486 |
| 138 | * SOX2_18692474_ChIP-Seq_MEFs_Mouse | 0.82019478 |
| 139 | SOX17_20123909_ChIP-Seq_XEN_Mouse | 0.81575073 |
| 140 | ATF3_23680149_ChIP-Seq_GBM1-GSC_Human | 0.81233079 |
| 141 | KLF4_18358816_ChIP-ChIP_MESCs_Mouse | 0.79213686 |
| 142 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 0.79212352 |
| 143 | SREBP1_19666523_ChIP-Seq_LIVER_Mouse | 0.77507869 |
| 144 | * OCT4_18692474_ChIP-Seq_MEFs_Mouse | 0.77417767 |
| 145 | GFI1B_20887958_ChIP-Seq_HPC-7_Mouse | 0.76422264 |
| 146 | CIITA_25753668_ChIP-Seq_RAJI_Human | 0.72030727 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 4.47004596 |
| 2 | MP0008877_abnormal_DNA_methylation | 4.36796315 |
| 3 | MP0001929_abnormal_gametogenesis | 4.35215466 |
| 4 | MP0002210_abnormal_sex_determination | 3.04273433 |
| 5 | MP0002653_abnormal_ependyma_morphology | 2.89132272 |
| 6 | MP0002161_abnormal_fertility/fecundity | 2.56571537 |
| 7 | MP0001145_abnormal_male_reproductive | 2.49240837 |
| 8 | MP0008058_abnormal_DNA_repair | 2.26940171 |
| 9 | MP0000653_abnormal_sex_gland | 2.25231871 |
| 10 | MP0003693_abnormal_embryo_hatching | 2.24668753 |
| 11 | MP0002160_abnormal_reproductive_system | 2.22563397 |
| 12 | MP0003646_muscle_fatigue | 2.08824854 |
| 13 | MP0002234_abnormal_pharynx_morphology | 2.07344492 |
| 14 | MP0001984_abnormal_olfaction | 2.00608624 |
| 15 | MP0005410_abnormal_fertilization | 11.3100646 |
| 16 | MP0006036_abnormal_mitochondrial_physio | 1.76771863 |
| 17 | MP0003786_premature_aging | 1.69282145 |
| 18 | MP0002938_white_spotting | 1.68750239 |
| 19 | MP0006276_abnormal_autonomic_nervous | 1.66776242 |
| 20 | MP0001529_abnormal_vocalization | 1.64366221 |
| 21 | MP0004957_abnormal_blastocyst_morpholog | 1.60863634 |
| 22 | MP0001293_anophthalmia | 1.49399493 |
| 23 | MP0003718_maternal_effect | 1.45089226 |
| 24 | MP0008932_abnormal_embryonic_tissue | 1.44020074 |
| 25 | MP0002736_abnormal_nociception_after | 1.41361766 |
| 26 | MP0003186_abnormal_redox_activity | 1.40820566 |
| 27 | MP0002132_abnormal_respiratory_system | 1.39681608 |
| 28 | MP0003315_abnormal_perineum_morphology | 1.39221563 |
| 29 | MP0010094_abnormal_chromosome_stability | 1.37665731 |
| 30 | MP0002102_abnormal_ear_morphology | 1.37567254 |
| 31 | MP0008007_abnormal_cellular_replicative | 1.35678354 |
| 32 | MP0008875_abnormal_xenobiotic_pharmacok | 1.35399622 |
| 33 | MP0008995_early_reproductive_senescence | 1.35087540 |
| 34 | MP0005389_reproductive_system_phenotype | 1.34947101 |
| 35 | MP0001764_abnormal_homeostasis | 1.34209756 |
| 36 | MP0002277_abnormal_respiratory_mucosa | 1.33424818 |
| 37 | MP0006072_abnormal_retinal_apoptosis | 1.32161321 |
| 38 | MP0001986_abnormal_taste_sensitivity | 1.31751020 |
| 39 | MP0005084_abnormal_gallbladder_morpholo | 1.31028237 |
| 40 | MP0001905_abnormal_dopamine_level | 1.29686601 |
| 41 | MP0006035_abnormal_mitochondrial_morpho | 1.29128428 |
| 42 | MP0002282_abnormal_trachea_morphology | 1.27319658 |
| 43 | MP0003011_delayed_dark_adaptation | 1.24211521 |
| 44 | MP0003077_abnormal_cell_cycle | 1.21683867 |
| 45 | MP0003123_paternal_imprinting | 1.21532631 |
| 46 | MP0009697_abnormal_copulation | 1.20232930 |
| 47 | MP0003806_abnormal_nucleotide_metabolis | 1.19552449 |
| 48 | MP0000350_abnormal_cell_proliferation | 1.19424095 |
| 49 | MP0003122_maternal_imprinting | 1.15617198 |
| 50 | MP0003136_yellow_coat_color | 1.15003820 |
| 51 | MP0005670_abnormal_white_adipose | 1.13938947 |
| 52 | MP0000358_abnormal_cell_content/ | 1.12180472 |
| 53 | MP0005501_abnormal_skin_physiology | 1.10248993 |
| 54 | MP0003111_abnormal_nucleus_morphology | 1.09543084 |
| 55 | MP0003941_abnormal_skin_development | 1.05938131 |
| 56 | MP0005636_abnormal_mineral_homeostasis | 1.04279801 |
| 57 | MP0005332_abnormal_amino_acid | 1.03379620 |
| 58 | MP0001968_abnormal_touch/_nociception | 1.02521829 |
| 59 | MP0003937_abnormal_limbs/digits/tail_de | 1.01753697 |
| 60 | MP0002177_abnormal_outer_ear | 1.00978480 |
| 61 | MP0002163_abnormal_gland_morphology | 1.00267327 |
| 62 | MP0000647_abnormal_sebaceous_gland | 1.00064663 |
| 63 | MP0002876_abnormal_thyroid_physiology | 0.97486185 |
| 64 | MP0001119_abnormal_female_reproductive | 0.96340600 |
| 65 | MP0001697_abnormal_embryo_size | 0.95902758 |
| 66 | MP0002638_abnormal_pupillary_reflex | 0.94758881 |
| 67 | MP0003879_abnormal_hair_cell | 0.94534164 |
| 68 | MP0004133_heterotaxia | 0.91640906 |
| 69 | MP0001730_embryonic_growth_arrest | 0.89776398 |
| 70 | MP0000678_abnormal_parathyroid_gland | 0.87546865 |
| 71 | MP0002837_dystrophic_cardiac_calcinosis | 0.86803483 |
| 72 | MP0002080_prenatal_lethality | 0.86507048 |
| 73 | MP0004233_abnormal_muscle_weight | 0.85678024 |
| 74 | MP0002233_abnormal_nose_morphology | 0.85170469 |
| 75 | MP0008789_abnormal_olfactory_epithelium | 0.84575137 |
| 76 | MP0000749_muscle_degeneration | 0.84466135 |
| 77 | MP0003121_genomic_imprinting | 0.83229507 |
| 78 | MP0005075_abnormal_melanosome_morpholog | 0.83147151 |
| 79 | MP0004147_increased_porphyrin_level | 0.82713871 |
| 80 | MP0001348_abnormal_lacrimal_gland | 0.82535676 |
| 81 | MP0005379_endocrine/exocrine_gland_phen | 0.80738195 |
| 82 | MP0005397_hematopoietic_system_phenotyp | 0.79508849 |
| 83 | MP0001545_abnormal_hematopoietic_system | 0.79508849 |
| 84 | MP0005423_abnormal_somatic_nervous | 0.78584014 |
| 85 | MP0003567_abnormal_fetal_cardiomyocyte | 0.77997239 |
| 86 | MP0002085_abnormal_embryonic_tissue | 0.77915973 |
| 87 | MP0003938_abnormal_ear_development | 0.76330408 |
| 88 | MP0002090_abnormal_vision | 0.75267798 |
| 89 | MP0005257_abnormal_intraocular_pressure | 0.73919051 |
| 90 | MP0002095_abnormal_skin_pigmentation | 0.73394457 |
| 91 | MP0000372_irregular_coat_pigmentation | 0.73393636 |
| 92 | MP0000313_abnormal_cell_death | 0.69691604 |
| 93 | MP0002019_abnormal_tumor_incidence | 0.69128822 |
| 94 | MP0006292_abnormal_olfactory_placode | 0.69040431 |
| 95 | MP0002796_impaired_skin_barrier | 0.68843228 |
| 96 | MP0000762_abnormal_tongue_morphology | 0.68576023 |
| 97 | MP0001881_abnormal_mammary_gland | 0.67858123 |
| 98 | MP0010030_abnormal_orbit_morphology | 0.66629609 |
| 99 | MP0003119_abnormal_digestive_system | 0.66473880 |
| 100 | MP0001919_abnormal_reproductive_system | 0.63879060 |
| 101 | MP0002822_catalepsy | 0.63734356 |
| 102 | MP0002751_abnormal_autonomic_nervous | 0.63395421 |
| 103 | MP0009379_abnormal_foot_pigmentation | 0.63343223 |
| 104 | MP0009333_abnormal_splenocyte_physiolog | 0.63281018 |
| 105 | MP0005377_hearing/vestibular/ear_phenot | 0.63092082 |
| 106 | MP0003878_abnormal_ear_physiology | 0.63092082 |
| 107 | MP0003942_abnormal_urinary_system | 0.62648336 |
| 108 | MP0009785_altered_susceptibility_to | 0.62602242 |
| 109 | MP0000049_abnormal_middle_ear | 0.62468770 |
| 110 | MP0000566_synostosis | 0.61314160 |
| 111 | MP0002254_reproductive_system_inflammat | 0.61100247 |
| 112 | MP0008872_abnormal_physiological_respon | 0.60735320 |
| 113 | MP0001727_abnormal_embryo_implantation | 0.59238974 |
| 114 | MP0008260_abnormal_autophagy | 0.57159876 |
| 115 | MP0005394_taste/olfaction_phenotype | 0.56650387 |
| 116 | MP0005499_abnormal_olfactory_system | 0.56650387 |
| 117 | MP0005266_abnormal_metabolism | 0.55466817 |
| 118 | MP0000015_abnormal_ear_pigmentation | 0.53987410 |
| 119 | MP0001765_abnormal_ion_homeostasis | 0.52878126 |
| 120 | MP0003699_abnormal_female_reproductive | 0.52803738 |
| 121 | MP0010386_abnormal_urinary_bladder | 0.52782892 |
| 122 | MP0005408_hypopigmentation | 0.51892471 |
| 123 | MP0003880_abnormal_central_pattern | 0.50856267 |
| 124 | MP0004142_abnormal_muscle_tone | 0.50357847 |
| 125 | MP0005646_abnormal_pituitary_gland | 0.49538211 |
| 126 | MP0009046_muscle_twitch | 0.49521976 |
| 127 | MP0005671_abnormal_response_to | 0.48100864 |
| 128 | MP0005451_abnormal_body_composition | 0.46771073 |
| 129 | MP0001188_hyperpigmentation | 0.45240134 |
| 130 | MP0003787_abnormal_imprinting | 0.44976371 |
| 131 | MP0001664_abnormal_digestion | 0.44009934 |
| 132 | MP0001542_abnormal_bone_strength | 0.43309001 |
| 133 | MP0000026_abnormal_inner_ear | 0.42766334 |
| 134 | MP0002169_no_abnormal_phenotype | 0.41700725 |
| 135 | MP0002873_normal_phenotype | 0.40999299 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Absent/shortened dynein arms (HP:0200106) | 9.35008109 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 9.35008109 |
| 3 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 9.31938583 |
| 4 | Abnormal respiratory epithelium morphology (HP:0012253) | 7.07038040 |
| 5 | Abnormal respiratory motile cilium morphology (HP:0005938) | 7.07038040 |
| 6 | Abnormal respiratory motile cilium physiology (HP:0012261) | 6.91328138 |
| 7 | Chronic bronchitis (HP:0004469) | 5.68217453 |
| 8 | Abnormal ciliary motility (HP:0012262) | 5.66520657 |
| 9 | Rhinitis (HP:0012384) | 5.63428009 |
| 10 | Infertility (HP:0000789) | 5.14231831 |
| 11 | Nasal polyposis (HP:0100582) | 4.44770890 |
| 12 | Acute necrotizing encephalopathy (HP:0006965) | 3.92982368 |
| 13 | Abnormal mitochondria in muscle tissue (HP:0008316) | 3.68986087 |
| 14 | Medial flaring of the eyebrow (HP:0010747) | 3.56773782 |
| 15 | Hepatocellular necrosis (HP:0001404) | 3.56496326 |
| 16 | Mitochondrial inheritance (HP:0001427) | 3.55447232 |
| 17 | Abnormality of the nasal mucosa (HP:0000433) | 3.51318251 |
| 18 | Nephronophthisis (HP:0000090) | 3.50469858 |
| 19 | Bronchiectasis (HP:0002110) | 3.29179319 |
| 20 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 3.17688903 |
| 21 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 3.17688903 |
| 22 | Bronchitis (HP:0012387) | 3.16535792 |
| 23 | Progressive macrocephaly (HP:0004481) | 3.06901516 |
| 24 | Male infertility (HP:0003251) | 3.06375154 |
| 25 | Acute encephalopathy (HP:0006846) | 3.04165013 |
| 26 | Increased CSF lactate (HP:0002490) | 3.00885562 |
| 27 | Hepatic necrosis (HP:0002605) | 2.93634565 |
| 28 | Abnormal spermatogenesis (HP:0008669) | 2.90854220 |
| 29 | Congenital nonbullous ichthyosiform erythroderma (HP:0007479) | 2.74302659 |
| 30 | Microretrognathia (HP:0000308) | 2.70654306 |
| 31 | Colon cancer (HP:0003003) | 2.69943287 |
| 32 | Macrocytic anemia (HP:0001972) | 2.64377181 |
| 33 | 3-Methylglutaconic aciduria (HP:0003535) | 2.64261321 |
| 34 | Abnormal gallbladder physiology (HP:0012438) | 2.57567591 |
| 35 | Cholecystitis (HP:0001082) | 2.57567591 |
| 36 | Congenital primary aphakia (HP:0007707) | 2.56998302 |
| 37 | Gait imbalance (HP:0002141) | 2.52276537 |
| 38 | True hermaphroditism (HP:0010459) | 2.51664429 |
| 39 | Muscle abnormality related to mitochondrial dysfunction (HP:0003800) | 2.50772593 |
| 40 | Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688) | 2.47398812 |
| 41 | Abnormality of the renal medulla (HP:0100957) | 2.46745986 |
| 42 | Abnormality of midbrain morphology (HP:0002418) | 2.45255012 |
| 43 | Molar tooth sign on MRI (HP:0002419) | 2.45255012 |
| 44 | Nephrogenic diabetes insipidus (HP:0009806) | 2.44596234 |
| 45 | Cerebral hypomyelination (HP:0006808) | 2.43989290 |
| 46 | Lethargy (HP:0001254) | 2.42892328 |
| 47 | Type 2 muscle fiber atrophy (HP:0003554) | 2.36550094 |
| 48 | Methylmalonic aciduria (HP:0012120) | 2.35517559 |
| 49 | Pancreatic fibrosis (HP:0100732) | 2.34263483 |
| 50 | Congenital malformation of the right heart (HP:0011723) | 2.34160931 |
| 51 | Double outlet right ventricle (HP:0001719) | 2.34160931 |
| 52 | Exercise intolerance (HP:0003546) | 2.33531215 |
| 53 | Pancytopenia (HP:0001876) | 2.31709989 |
| 54 | Increased serum lactate (HP:0002151) | 2.30825166 |
| 55 | Lactic acidosis (HP:0003128) | 2.30418622 |
| 56 | Sclerocornea (HP:0000647) | 2.26906054 |
| 57 | Recurrent sinusitis (HP:0011108) | 2.25176652 |
| 58 | X-linked dominant inheritance (HP:0001423) | 2.24220953 |
| 59 | Optic disc pallor (HP:0000543) | 2.23659859 |
| 60 | Abnormal protein glycosylation (HP:0012346) | 2.23450733 |
| 61 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 2.23450733 |
| 62 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 2.22475332 |
| 63 | Congenital ichthyosiform erythroderma (HP:0007431) | 2.22410127 |
| 64 | Meckel diverticulum (HP:0002245) | 2.21252302 |
| 65 | Hypokinesia (HP:0002375) | 2.21249123 |
| 66 | Pancreatic cysts (HP:0001737) | 2.21018617 |
| 67 | Abnormality of the anterior horn cell (HP:0006802) | 2.20922895 |
| 68 | Degeneration of anterior horn cells (HP:0002398) | 2.20922895 |
| 69 | Recurrent otitis media (HP:0000403) | 2.19529532 |
| 70 | Poor suck (HP:0002033) | 2.18572856 |
| 71 | Increased hepatocellular lipid droplets (HP:0006565) | 2.15042943 |
| 72 | Opisthotonus (HP:0002179) | 2.14195056 |
| 73 | Abnormal number of erythroid precursors (HP:0012131) | 2.14126469 |
| 74 | Microvesicular hepatic steatosis (HP:0001414) | 2.13117320 |
| 75 | Azoospermia (HP:0000027) | 2.12858339 |
| 76 | Abnormality of the ileum (HP:0001549) | 2.11854969 |
| 77 | Muscle fiber atrophy (HP:0100295) | 2.11494824 |
| 78 | Redundant skin (HP:0001582) | 2.10988363 |
| 79 | Sparse eyelashes (HP:0000653) | 2.10736921 |
| 80 | Rough bone trabeculation (HP:0100670) | 2.07119360 |
| 81 | Abnormality of cells of the erythroid lineage (HP:0012130) | 2.05674938 |
| 82 | Abnormality of the preputium (HP:0100587) | 2.05014892 |
| 83 | Hypoplastic left heart (HP:0004383) | 2.03898885 |
| 84 | Respiratory failure (HP:0002878) | 2.02476070 |
| 85 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 2.01796482 |
| 86 | Abnormality of alanine metabolism (HP:0010916) | 2.01796482 |
| 87 | Hyperalaninemia (HP:0003348) | 2.01796482 |
| 88 | Testicular atrophy (HP:0000029) | 2.01143303 |
| 89 | Adrenal hypoplasia (HP:0000835) | 2.00384385 |
| 90 | Glycosuria (HP:0003076) | 1.99982143 |
| 91 | Abnormality of urine glucose concentration (HP:0011016) | 1.99982143 |
| 92 | Hyperglycinemia (HP:0002154) | 1.97983806 |
| 93 | Methylmalonic acidemia (HP:0002912) | 1.97631116 |
| 94 | Abnormal number of incisors (HP:0011064) | 1.96342678 |
| 95 | Abnormality of renal resorption (HP:0011038) | 1.96070143 |
| 96 | Lipid accumulation in hepatocytes (HP:0006561) | 1.95954014 |
| 97 | Tubulointerstitial nephritis (HP:0001970) | 1.95832145 |
| 98 | Chromsome breakage (HP:0040012) | 1.95625496 |
| 99 | Type I transferrin isoform profile (HP:0003642) | 1.94735534 |
| 100 | Poor coordination (HP:0002370) | 1.94710780 |
| 101 | Aplastic anemia (HP:0001915) | 1.94035060 |
| 102 | Gonadotropin excess (HP:0000837) | 1.91322429 |
| 103 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.90695387 |
| 104 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 1.89926945 |
| 105 | Emotional lability (HP:0000712) | 1.89345658 |
| 106 | Abnormality of methionine metabolism (HP:0010901) | 1.88983690 |
| 107 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.87702579 |
| 108 | Cerebral edema (HP:0002181) | 1.87573283 |
| 109 | Reduced antithrombin III activity (HP:0001976) | 1.87238763 |
| 110 | Postaxial foot polydactyly (HP:0001830) | 1.86582242 |
| 111 | Renal Fanconi syndrome (HP:0001994) | 1.86392780 |
| 112 | Abnormality of aromatic amino acid family metabolism (HP:0004338) | 1.86004471 |
| 113 | Abnormal hair whorl (HP:0010721) | 1.83114338 |
| 114 | Exertional dyspnea (HP:0002875) | 1.83099265 |
| 115 | Blindness (HP:0000618) | 1.82848949 |
| 116 | Generalized aminoaciduria (HP:0002909) | 1.82782757 |
| 117 | Abnormality of dentin (HP:0010299) | 1.81868094 |
| 118 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 1.78441187 |
| 119 | Increased intramyocellular lipid droplets (HP:0012240) | 1.77903743 |
| 120 | Oral leukoplakia (HP:0002745) | 1.76201433 |
| 121 | Leukodystrophy (HP:0002415) | 1.76176866 |
| 122 | Hyperphosphaturia (HP:0003109) | 1.76066186 |
| 123 | Hypoplastic pelvis (HP:0008839) | 1.75917222 |
| 124 | Aplasia/hypoplasia of the uterus (HP:0008684) | 1.74515435 |
| 125 | Delayed CNS myelination (HP:0002188) | 1.74344870 |
| 126 | Facial cleft (HP:0002006) | 1.74043694 |
| 127 | Cleft eyelid (HP:0000625) | 1.73938456 |
| 128 | Vaginal atresia (HP:0000148) | 1.72634964 |
| 129 | Tubular atrophy (HP:0000092) | 1.71425614 |
| 130 | Decreased muscle mass (HP:0003199) | 1.71119045 |
| 131 | Secondary amenorrhea (HP:0000869) | 1.70739419 |
| 132 | Oculomotor apraxia (HP:0000657) | 1.70325428 |
| 133 | Respiratory difficulties (HP:0002880) | 1.69276201 |
| 134 | Genital tract atresia (HP:0001827) | 1.67991463 |
| 135 | Increased serum pyruvate (HP:0003542) | 1.66837914 |
| 136 | Abnormality of glycolysis (HP:0004366) | 1.66837914 |
| 137 | Abnormality of serum amino acid levels (HP:0003112) | 1.66812818 |
| 138 | Birth length less than 3rd percentile (HP:0003561) | 1.66412549 |
| 139 | Polyphagia (HP:0002591) | 1.65574547 |
| 140 | Absent thumb (HP:0009777) | 1.64291997 |
| 141 | Increased muscle lipid content (HP:0009058) | 1.63376458 |
| 142 | Tubulointerstitial abnormality (HP:0001969) | 1.61365242 |
| 143 | Reticulocytopenia (HP:0001896) | 1.61079497 |
| 144 | Severe visual impairment (HP:0001141) | 1.60113433 |
| 145 | Postaxial hand polydactyly (HP:0001162) | 1.59068300 |
| 146 | Impulsivity (HP:0100710) | 1.53412443 |
| 147 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.52251068 |
| 148 | CNS demyelination (HP:0007305) | 1.51092196 |
| 149 | Congenital hepatic fibrosis (HP:0002612) | 1.50392907 |
| 150 | Delusions (HP:0000746) | 1.50021393 |
| 151 | Abnormal protein N-linked glycosylation (HP:0012347) | 1.49236592 |
| 152 | Abnormal glycosylation (HP:0012345) | 1.49236592 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | VRK2 | 6.72420560 |
| 2 | PDK4 | 5.81224511 |
| 3 | PDK3 | 5.81224511 |
| 4 | TESK1 | 5.48013864 |
| 5 | PDK2 | 3.70858162 |
| 6 | TAF1 | 2.94718731 |
| 7 | STK16 | 2.80650310 |
| 8 | BUB1 | 2.69759365 |
| 9 | MAP3K12 | 2.65938412 |
| 10 | PIM2 | 2.50796163 |
| 11 | ARAF | 2.47806957 |
| 12 | BRAF | 2.31674538 |
| 13 | NUAK1 | 2.23826832 |
| 14 | ICK | 2.21408562 |
| 15 | PRKD3 | 2.20640148 |
| 16 | SMG1 | 2.02793871 |
| 17 | MST4 | 1.97953025 |
| 18 | PBK | 1.93860301 |
| 19 | PLK4 | 1.78347525 |
| 20 | CASK | 1.61066511 |
| 21 | CSNK1G3 | 1.60349717 |
| 22 | CCNB1 | 1.59388114 |
| 23 | BMPR1B | 1.57376060 |
| 24 | NEK1 | 1.53225972 |
| 25 | EIF2AK1 | 1.48919890 |
| 26 | MUSK | 1.46695144 |
| 27 | VRK1 | 1.45115411 |
| 28 | TRIM28 | 1.38884759 |
| 29 | NME2 | 1.38007071 |
| 30 | CSNK1G1 | 1.33846836 |
| 31 | MYLK | 1.32721300 |
| 32 | TLK1 | 1.28366171 |
| 33 | NEK2 | 1.28141960 |
| 34 | WEE1 | 1.27380070 |
| 35 | TESK2 | 1.26583090 |
| 36 | ACVR1B | 1.25483229 |
| 37 | DYRK3 | 1.24055196 |
| 38 | MAP3K11 | 1.23656461 |
| 39 | MAP2K7 | 1.21166510 |
| 40 | CSNK1G2 | 1.20080612 |
| 41 | CSNK1A1L | 1.19815953 |
| 42 | WNK4 | 1.18359241 |
| 43 | PTK2B | 1.18342937 |
| 44 | NME1 | 1.17767653 |
| 45 | CDK19 | 1.06345491 |
| 46 | GRK5 | 1.03112450 |
| 47 | EPHA2 | 0.98201845 |
| 48 | STK38L | 0.97409455 |
| 49 | IRAK3 | 0.97291914 |
| 50 | SIK3 | 0.95559580 |
| 51 | IRAK1 | 0.90471272 |
| 52 | BRSK1 | 0.89791967 |
| 53 | CDK8 | 0.87058451 |
| 54 | AURKA | 0.84396825 |
| 55 | DYRK1B | 0.84011065 |
| 56 | CDK7 | 0.83845506 |
| 57 | MAP2K6 | 0.82901893 |
| 58 | IRAK2 | 0.80044068 |
| 59 | BRSK2 | 0.79785526 |
| 60 | PLK1 | 0.79544118 |
| 61 | EIF2AK3 | 0.79190491 |
| 62 | DYRK2 | 0.77837326 |
| 63 | PINK1 | 0.77463940 |
| 64 | ADRBK2 | 0.75082932 |
| 65 | EIF2AK2 | 0.74564964 |
| 66 | LIMK1 | 0.73406160 |
| 67 | SRPK1 | 0.70187720 |
| 68 | MAP4K2 | 0.69273422 |
| 69 | MAPKAPK3 | 0.66483618 |
| 70 | STK39 | 0.63475440 |
| 71 | STK38 | 0.63124170 |
| 72 | STK4 | 0.61730294 |
| 73 | CHEK2 | 0.61651516 |
| 74 | PAK1 | 0.61272112 |
| 75 | TSSK6 | 0.61082766 |
| 76 | BCKDK | 0.60151977 |
| 77 | WNK3 | 0.56593742 |
| 78 | PRKCG | 0.53785532 |
| 79 | KDR | 0.52992790 |
| 80 | PLK3 | 0.51153634 |
| 81 | ILK | 0.50414061 |
| 82 | DAPK1 | 0.49607163 |
| 83 | CSNK2A1 | 0.48962209 |
| 84 | MAPKAPK5 | 0.48381431 |
| 85 | LRRK2 | 0.47848581 |
| 86 | MAPK13 | 0.46749738 |
| 87 | PASK | 0.46597371 |
| 88 | DAPK3 | 0.46014624 |
| 89 | TAOK1 | 0.45778061 |
| 90 | TIE1 | 0.45390261 |
| 91 | CDK15 | 0.44239878 |
| 92 | TTK | 0.43287133 |
| 93 | ABL2 | 0.43228525 |
| 94 | MAPK15 | 0.41687475 |
| 95 | RPS6KA5 | 0.40926041 |
| 96 | PNCK | 0.40042814 |
| 97 | CHEK1 | 0.39924054 |
| 98 | MAP3K8 | 0.38789281 |
| 99 | PLK2 | 0.37420382 |
| 100 | GRK1 | 0.36744974 |
| 101 | ERBB4 | 0.36619877 |
| 102 | PRKG2 | 0.36588816 |
| 103 | PRKCI | 0.36529972 |
| 104 | PAK4 | 0.36421090 |
| 105 | ATR | 0.36250786 |
| 106 | TAOK2 | 0.32316501 |
| 107 | PDK1 | 0.31488040 |
| 108 | RAF1 | 0.30855667 |
| 109 | IRAK4 | 0.30480780 |
| 110 | TEC | 0.30446327 |
| 111 | MINK1 | 0.29567582 |
| 112 | CAMK2G | 0.29546402 |
| 113 | ATM | 0.29033703 |
| 114 | CDK18 | 0.28737279 |
| 115 | ZAP70 | 0.28231261 |
| 116 | MAP3K5 | 0.28111624 |
| 117 | CDC7 | 0.27682172 |
| 118 | STK10 | 0.27650833 |
| 119 | PHKG2 | 0.26503502 |
| 120 | PHKG1 | 0.26503502 |
| 121 | AKT3 | 0.26490786 |
| 122 | CSNK1A1 | 0.25782921 |
| 123 | TGFBR1 | 0.25418568 |
| 124 | BMPR2 | 0.25374530 |
| 125 | CSNK2A2 | 0.25152630 |
| 126 | AURKB | 0.24385571 |
| 127 | CDK11A | 0.23979253 |
| 128 | PIM1 | 0.23748966 |
| 129 | LMTK2 | 0.21795625 |
| 130 | CAMK2D | 0.20974957 |
| 131 | CSNK1E | 0.20850946 |
| 132 | CDK14 | 0.20329259 |
| 133 | PRKCD | 0.20209554 |
| 134 | ZAK | 0.20100703 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Proteasome_Homo sapiens_hsa03050 | 4.78175625 |
| 2 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 3.85967434 |
| 3 | Parkinsons disease_Homo sapiens_hsa05012 | 3.33978731 |
| 4 | Huntingtons disease_Homo sapiens_hsa05016 | 3.15077447 |
| 5 | RNA polymerase_Homo sapiens_hsa03020 | 3.10380634 |
| 6 | Ribosome_Homo sapiens_hsa03010 | 2.93440407 |
| 7 | Basal transcription factors_Homo sapiens_hsa03022 | 2.68223974 |
| 8 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 2.63215811 |
| 9 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 2.45668548 |
| 10 | Pyruvate metabolism_Homo sapiens_hsa00620 | 2.23148389 |
| 11 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 2.14495485 |
| 12 | DNA replication_Homo sapiens_hsa03030 | 2.14255806 |
| 13 | Alzheimers disease_Homo sapiens_hsa05010 | 2.11470894 |
| 14 | Protein export_Homo sapiens_hsa03060 | 2.02869363 |
| 15 | Purine metabolism_Homo sapiens_hsa00230 | 1.88154258 |
| 16 | Base excision repair_Homo sapiens_hsa03410 | 1.85389940 |
| 17 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 1.85211403 |
| 18 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.75958157 |
| 19 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.70463708 |
| 20 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 1.68939080 |
| 21 | RNA transport_Homo sapiens_hsa03013 | 1.67465377 |
| 22 | Spliceosome_Homo sapiens_hsa03040 | 1.61909710 |
| 23 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.61450868 |
| 24 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.59508684 |
| 25 | Homologous recombination_Homo sapiens_hsa03440 | 1.59214754 |
| 26 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 1.54870205 |
| 27 | Mismatch repair_Homo sapiens_hsa03430 | 1.51876420 |
| 28 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.51522772 |
| 29 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.49967663 |
| 30 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.48916368 |
| 31 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.46748813 |
| 32 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.40683924 |
| 33 | RNA degradation_Homo sapiens_hsa03018 | 1.39027818 |
| 34 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.37884174 |
| 35 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.28732079 |
| 36 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.26611515 |
| 37 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 1.22228253 |
| 38 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.21638701 |
| 39 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.20418265 |
| 40 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.19829361 |
| 41 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 1.18577530 |
| 42 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 1.17615926 |
| 43 | Sulfur relay system_Homo sapiens_hsa04122 | 1.13609703 |
| 44 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 1.10860886 |
| 45 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 1.05343215 |
| 46 | Carbon metabolism_Homo sapiens_hsa01200 | 1.05141972 |
| 47 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.97327652 |
| 48 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.93392430 |
| 49 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.92872957 |
| 50 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.92821677 |
| 51 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.91561606 |
| 52 | Cell cycle_Homo sapiens_hsa04110 | 0.90501971 |
| 53 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.90088011 |
| 54 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.88730206 |
| 55 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.88485233 |
| 56 | Metabolic pathways_Homo sapiens_hsa01100 | 0.88409507 |
| 57 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.88335029 |
| 58 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.88089350 |
| 59 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.87123827 |
| 60 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.83175197 |
| 61 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.79441774 |
| 62 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.75957495 |
| 63 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.75436315 |
| 64 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.75217294 |
| 65 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.74404789 |
| 66 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.73921571 |
| 67 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.72867523 |
| 68 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.69306757 |
| 69 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.68347145 |
| 70 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.65357561 |
| 71 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 0.64504177 |
| 72 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.63527303 |
| 73 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.61543629 |
| 74 | Galactose metabolism_Homo sapiens_hsa00052 | 0.56910096 |
| 75 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.54232646 |
| 76 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.53872284 |
| 77 | Phagosome_Homo sapiens_hsa04145 | 0.53871306 |
| 78 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.52016160 |
| 79 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.49279723 |
| 80 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.47910778 |
| 81 | Legionellosis_Homo sapiens_hsa05134 | 0.46013558 |
| 82 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.45819229 |
| 83 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.43456591 |
| 84 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.43308694 |
| 85 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.41615302 |
| 86 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.40202467 |
| 87 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.39874692 |
| 88 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.39667981 |
| 89 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.38719017 |
| 90 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.37129548 |
| 91 | Allograft rejection_Homo sapiens_hsa05330 | 0.34620324 |
| 92 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.33870333 |
| 93 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.33250883 |
| 94 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.32910205 |
| 95 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.32896340 |
| 96 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.30333953 |
| 97 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.28635175 |
| 98 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.27958074 |
| 99 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.27048306 |
| 100 | Other glycan degradation_Homo sapiens_hsa00511 | 0.27032778 |
| 101 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.26949505 |
| 102 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.26580575 |
| 103 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.26291689 |
| 104 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.25775173 |
| 105 | Peroxisome_Homo sapiens_hsa04146 | 0.24588386 |
| 106 | Phototransduction_Homo sapiens_hsa04744 | 0.24484917 |
| 107 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.23617837 |
| 108 | Shigellosis_Homo sapiens_hsa05131 | 0.21983548 |
| 109 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.21877174 |
| 110 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.21798380 |
| 111 | Asthma_Homo sapiens_hsa05310 | 0.21059542 |
| 112 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 0.18758388 |
| 113 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.17828655 |
| 114 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.16965344 |
| 115 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.15264485 |
| 116 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 0.14128450 |
| 117 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.13063618 |
| 118 | Alcoholism_Homo sapiens_hsa05034 | 0.11418706 |
| 119 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.10962227 |
| 120 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.10631456 |
| 121 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.09638296 |
| 122 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.08827837 |
| 123 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.05829837 |

