

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | cilium or flagellum-dependent cell motility (GO:0001539) | 9.86340510 |
| 2 | cell wall macromolecule catabolic process (GO:0016998) | 8.88609363 |
| 3 | cell wall macromolecule metabolic process (GO:0044036) | 8.88609363 |
| 4 | multicellular organism reproduction (GO:0032504) | 8.44592703 |
| 5 | acrosome assembly (GO:0001675) | 8.43338676 |
| 6 | sperm motility (GO:0030317) | 8.36309725 |
| 7 | sperm-egg recognition (GO:0035036) | 8.18082452 |
| 8 | plasma membrane fusion (GO:0045026) | 7.97899444 |
| 9 | binding of sperm to zona pellucida (GO:0007339) | 7.50553548 |
| 10 | cell-cell recognition (GO:0009988) | 7.41737904 |
| 11 | axonemal dynein complex assembly (GO:0070286) | 7.24155559 |
| 12 | reproduction (GO:0000003) | 7.20319063 |
| 13 | epithelial cilium movement (GO:0003351) | 6.79798601 |
| 14 | acrosome reaction (GO:0007340) | 6.62317091 |
| 15 | spermatid development (GO:0007286) | 6.51205575 |
| 16 | piRNA metabolic process (GO:0034587) | 6.42910995 |
| 17 | motile cilium assembly (GO:0044458) | 6.33931769 |
| 18 | interferon-gamma secretion (GO:0072643) | 6.11610247 |
| 19 | cilium movement (GO:0003341) | 5.99395401 |
| 20 | male meiosis (GO:0007140) | 5.86865215 |
| 21 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 5.60818792 |
| 22 | synaptonemal complex organization (GO:0070193) | 5.52534717 |
| 23 | synaptonemal complex assembly (GO:0007130) | 5.46662242 |
| 24 | single fertilization (GO:0007338) | 5.41439980 |
| 25 | organic cation transport (GO:0015695) | 5.29524448 |
| 26 | sperm capacitation (GO:0048240) | 5.15849588 |
| 27 | hemidesmosome assembly (GO:0031581) | 5.13417103 |
| 28 | fertilization (GO:0009566) | 4.62721246 |
| 29 | negative regulation of keratinocyte proliferation (GO:0010839) | 4.56445820 |
| 30 | establishment of skin barrier (GO:0061436) | 4.56227509 |
| 31 | diterpenoid biosynthetic process (GO:0016102) | 4.49821769 |
| 32 | regulation of cilium movement (GO:0003352) | 4.48710838 |
| 33 | multicellular organismal water homeostasis (GO:0050891) | 4.43106033 |
| 34 | keratinocyte proliferation (GO:0043616) | 4.37044096 |
| 35 | regulation of podosome assembly (GO:0071801) | 4.12293326 |
| 36 | spermatogenesis (GO:0007283) | 4.04459645 |
| 37 | male gamete generation (GO:0048232) | 4.02635533 |
| 38 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.85924996 |
| 39 | hypotonic response (GO:0006971) | 3.83451073 |
| 40 | water homeostasis (GO:0030104) | 3.81079549 |
| 41 | regulation of keratinocyte proliferation (GO:0010837) | 3.79956139 |
| 42 | DNA methylation involved in gamete generation (GO:0043046) | 3.75695342 |
| 43 | surfactant homeostasis (GO:0043129) | 3.74850710 |
| 44 | seminiferous tubule development (GO:0072520) | 3.73525298 |
| 45 | germ cell development (GO:0007281) | 3.71559787 |
| 46 | gamete generation (GO:0007276) | 3.70508957 |
| 47 | positive regulation of epidermal cell differentiation (GO:0045606) | 3.66782634 |
| 48 | negative regulation of inclusion body assembly (GO:0090084) | 3.63390160 |
| 49 | positive regulation of Cdc42 GTPase activity (GO:0043089) | 3.59241845 |
| 50 | sphingomyelin metabolic process (GO:0006684) | 3.57167466 |
| 51 | regulation of keratinocyte differentiation (GO:0045616) | 3.53664050 |
| 52 | male meiosis I (GO:0007141) | 3.48257920 |
| 53 | chromosome organization involved in meiosis (GO:0070192) | 3.47975136 |
| 54 | monoubiquitinated protein deubiquitination (GO:0035520) | 3.39759205 |
| 55 | amino-acid betaine transport (GO:0015838) | 3.39073548 |
| 56 | carnitine transport (GO:0015879) | 3.39073548 |
| 57 | pyrimidine-containing compound transmembrane transport (GO:0072531) | 3.38075546 |
| 58 | keratinocyte development (GO:0003334) | 3.36612397 |
| 59 | Golgi transport vesicle coating (GO:0048200) | 3.36488988 |
| 60 | COPI coating of Golgi vesicle (GO:0048205) | 3.36488988 |
| 61 | tight junction assembly (GO:0070830) | 3.35938115 |
| 62 | ventricular system development (GO:0021591) | 3.34110039 |
| 63 | cell-substrate junction assembly (GO:0007044) | 3.29886613 |
| 64 | hepatocyte apoptotic process (GO:0097284) | 3.24717272 |
| 65 | iron ion import (GO:0097286) | 3.23867807 |
| 66 | intestinal epithelial cell development (GO:0060576) | 3.20011723 |
| 67 | alditol metabolic process (GO:0019400) | 3.18819519 |
| 68 | meiotic nuclear division (GO:0007126) | 3.18445494 |
| 69 | bundle of His cell to Purkinje myocyte communication (GO:0086069) | 3.17813912 |
| 70 | desmosome organization (GO:0002934) | 3.15885833 |
| 71 | chemical homeostasis within a tissue (GO:0048875) | 3.14232097 |
| 72 | epithelial cell differentiation involved in prostate gland development (GO:0060742) | 3.10541821 |
| 73 | genitalia morphogenesis (GO:0035112) | 3.09849111 |
| 74 | positive regulation of keratinocyte differentiation (GO:0045618) | 3.07669441 |
| 75 | gap junction assembly (GO:0016264) | 3.02304233 |
| 76 | primary alcohol catabolic process (GO:0034310) | 3.00245979 |
| 77 | cell recognition (GO:0008037) | 3.00025653 |
| 78 | multicellular organismal reproductive process (GO:0048609) | 3.00017908 |
| 79 | COPII vesicle coating (GO:0048208) | 2.97942727 |
| 80 | regulation of inclusion body assembly (GO:0090083) | 2.95605875 |
| 81 | glycerol ether metabolic process (GO:0006662) | 2.94785626 |
| 82 | terpenoid biosynthetic process (GO:0016114) | 2.94162120 |
| 83 | quaternary ammonium group transport (GO:0015697) | 2.93733324 |
| 84 | chaperone-mediated protein complex assembly (GO:0051131) | 2.91047836 |
| 85 | cell adhesion mediated by integrin (GO:0033627) | 2.90584556 |
| 86 | protein localization to endosome (GO:0036010) | 2.88665412 |
| 87 | glycerol metabolic process (GO:0006071) | 2.87810607 |
| 88 | auditory receptor cell differentiation (GO:0042491) | 2.86758943 |
| 89 | sexual reproduction (GO:0019953) | 2.85361320 |
| 90 | gene silencing by RNA (GO:0031047) | 2.84759477 |
| 91 | positive regulation of epidermis development (GO:0045684) | 2.84155711 |
| 92 | meiotic cell cycle (GO:0051321) | 2.84071207 |
| 93 | carnitine transmembrane transport (GO:1902603) | 2.83154267 |
| 94 | regulation of transforming growth factor beta1 production (GO:0032908) | 2.82406292 |
| 95 | meiosis I (GO:0007127) | 2.82399637 |
| 96 | cellular glucuronidation (GO:0052695) | 2.81604738 |
| 97 | regulation of metalloenzyme activity (GO:0048552) | 2.73135081 |
| 98 | branching involved in mammary gland duct morphogenesis (GO:0060444) | 2.73093037 |
| 99 | epithelial cell-cell adhesion (GO:0090136) | 2.72471590 |
| 100 | polyol catabolic process (GO:0046174) | 2.70637643 |
| 101 | neutrophil activation involved in immune response (GO:0002283) | 2.70306991 |
| 102 | positive regulation of glycoprotein metabolic process (GO:1903020) | 2.70051099 |
| 103 | negative regulation of epidermal growth factor-activated receptor activity (GO:0007175) | 2.70042870 |
| 104 | nuclear pore complex assembly (GO:0051292) | 2.66162985 |
| 105 | columnar/cuboidal epithelial cell development (GO:0002066) | 2.65496740 |
| 106 | ether metabolic process (GO:0018904) | 2.64828878 |
| 107 | drug transmembrane transport (GO:0006855) | 2.64799801 |
| 108 | membrane budding (GO:0006900) | 2.63844992 |
| 109 | sulfate transmembrane transport (GO:1902358) | 2.63657757 |
| 110 | vitamin transmembrane transport (GO:0035461) | 2.61623505 |
| 111 | glucuronate metabolic process (GO:0019585) | 2.59787678 |
| 112 | uronic acid metabolic process (GO:0006063) | 2.59787678 |
| 113 | regulation of vitamin metabolic process (GO:0030656) | 2.59289990 |
| 114 | protein autoprocessing (GO:0016540) | 2.58406639 |
| 115 | transcytosis (GO:0045056) | 2.57083218 |
| 116 | dichotomous subdivision of an epithelial terminal unit (GO:0060600) | 2.56988854 |
| 117 | oligosaccharide biosynthetic process (GO:0009312) | 2.56874118 |
| 118 | spermatid nucleus differentiation (GO:0007289) | 2.56363859 |
| 119 | regulation of transforming growth factor beta2 production (GO:0032909) | 2.56295034 |
| 120 | nucleotide-sugar biosynthetic process (GO:0009226) | 2.55919116 |
| 121 | peptide catabolic process (GO:0043171) | 2.55576606 |
| 122 | microtubule depolymerization (GO:0007019) | 2.55375482 |
| 123 | renal filtration (GO:0097205) | 2.55167212 |
| 124 | positive regulation of glycoprotein biosynthetic process (GO:0010560) | 2.53417333 |
| 125 | calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338) | 2.53097974 |
| 126 | cellular response to arsenic-containing substance (GO:0071243) | 2.52852360 |
| 127 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 2.52214418 |
| 128 | negative regulation of glycoprotein biosynthetic process (GO:0010561) | 2.51937152 |
| 129 | angiotensin maturation (GO:0002003) | 2.51375871 |
| 130 | chromosome condensation (GO:0030261) | 2.51034411 |
| 131 | regulation of microtubule-based movement (GO:0060632) | 2.50684165 |
| 132 | renal system development (GO:0072001) | 2.48070496 |
| 133 | regulation of transforming growth factor beta production (GO:0071634) | 2.47807838 |
| 134 | regulation of water loss via skin (GO:0033561) | 2.47591213 |
| 135 | regulation of epidermal cell differentiation (GO:0045604) | 2.47226126 |
| 136 | amyloid precursor protein catabolic process (GO:0042987) | 2.47186988 |
| 137 | * O-glycan processing (GO:0016266) | 2.47132663 |
| 138 | peptidyl-tyrosine autophosphorylation (GO:0038083) | 2.45832486 |
| 139 | antigen processing and presentation of endogenous antigen (GO:0019883) | 2.45344179 |
| 140 | epidermis development (GO:0008544) | 2.45023478 |
| 141 | negative regulation of cell fate specification (GO:0009996) | 2.44841765 |
| 142 | negative regulation of toll-like receptor 4 signaling pathway (GO:0034144) | 2.44479647 |
| 143 | drug transport (GO:0015893) | 2.43525472 |
| 144 | multicellular organismal development (GO:0007275) | 2.43236305 |
| 145 | skin morphogenesis (GO:0043589) | 2.43149685 |
| 146 | cellular response to vitamin D (GO:0071305) | 2.43006177 |
| 147 | flavonoid metabolic process (GO:0009812) | 2.41060131 |
| 148 | intermediate filament organization (GO:0045109) | 2.40960785 |
| 149 | negative regulation of humoral immune response (GO:0002921) | 2.40329289 |
| 150 | microtubule severing (GO:0051013) | 2.40246094 |
| 151 | keratinocyte differentiation (GO:0030216) | 2.39183348 |
| 152 | ethanol metabolic process (GO:0006067) | 2.38705995 |
| 153 | ventricular cardiac muscle cell action potential (GO:0086005) | 2.38399496 |
| 154 | regulation of cellular extravasation (GO:0002691) | 2.38055151 |
| 155 | amyloid precursor protein metabolic process (GO:0042982) | 2.37900185 |
| 156 | activation of Rac GTPase activity (GO:0032863) | 2.37509472 |
| 157 | left/right pattern formation (GO:0060972) | 2.36848492 |
| 158 | transepithelial transport (GO:0070633) | 2.35849351 |
| 159 | cell-cell junction assembly (GO:0007043) | 2.34269964 |
| 160 | digestion (GO:0007586) | 2.32231436 |
| 161 | filopodium assembly (GO:0046847) | 2.31466780 |
| 162 | regulation of epidermis development (GO:0045682) | 2.30617295 |
| 163 | natural killer cell mediated cytotoxicity (GO:0042267) | 2.30127536 |
| 164 | natural killer cell mediated immunity (GO:0002228) | 2.30127536 |
| 165 | endosome organization (GO:0007032) | 2.29892673 |
| 166 | early endosome to late endosome transport (GO:0045022) | 2.29700490 |
| 167 | glandular epithelial cell differentiation (GO:0002067) | 2.29332886 |
| 168 | growth hormone receptor signaling pathway (GO:0060396) | 2.29255316 |
| 169 | antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885) | 2.28721347 |
| 170 | antigen processing and presentation of endogenous peptide antigen (GO:0002483) | 2.28721347 |
| 171 | regulation of branching involved in salivary gland morphogenesis (GO:0060693) | 2.28672354 |
| 172 | UDP-N-acetylglucosamine metabolic process (GO:0006047) | 2.27800250 |
| 173 | DNA packaging (GO:0006323) | 2.27713310 |
| 174 | diol metabolic process (GO:0034311) | 2.27385963 |
| 175 | ectoderm development (GO:0007398) | 2.25554552 |
| 176 | excretion (GO:0007588) | 2.25408282 |
| 177 | maintenance of gastrointestinal epithelium (GO:0030277) | 2.25072119 |
| 178 | calcium ion-dependent exocytosis (GO:0017156) | 2.23683157 |
| 179 | intestinal absorption (GO:0050892) | 2.22348339 |
| 180 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.9303933 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 7.54591454 |
| 2 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 6.40695247 |
| 3 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 3.16616004 |
| 4 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 3.11956573 |
| 5 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.89801485 |
| 6 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 2.63060105 |
| 7 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 2.43021387 |
| 8 | SOX2_27498859_Chip-Seq_STOMACH_Mouse | 2.29064407 |
| 9 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 2.22478087 |
| 10 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.22414511 |
| 11 | GATA4_25053715_ChIP-Seq_YYC3_Human | 2.08270225 |
| 12 | TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 2.07722630 |
| 13 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 2.02469882 |
| 14 | FOXO3_23340844_ChIP-Seq_DLD1_Human | 1.99335455 |
| 15 | ZNF263_19887448_ChIP-Seq_K562_Human | 1.98301666 |
| 16 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 1.95879547 |
| 17 | GATA6_25053715_ChIP-Seq_YYC3_Human | 1.90752521 |
| 18 | FOXP3_17237761_ChIP-ChIP_TREG_Mouse | 1.89518410 |
| 19 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.81581932 |
| 20 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 1.79168997 |
| 21 | RUNX1_27514584_Chip-Seq_MCF-7_Human | 1.73254685 |
| 22 | PPAR_26484153_Chip-Seq_NCI-H1993_Human | 1.68750732 |
| 23 | * STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse | 1.62865655 |
| 24 | Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse | 1.60780791 |
| 25 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 1.60346537 |
| 26 | SMAD3_18955504_ChIP-ChIP_HaCaT_Human | 1.60186051 |
| 27 | SMAD2_18955504_ChIP-ChIP_HaCaT_Human | 1.60186051 |
| 28 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.55057171 |
| 29 | * AR_21915096_ChIP-Seq_LNCaP-1F5_Human | 1.53973388 |
| 30 | CLOCK_20551151_ChIP-Seq_293T_Human | 1.49710353 |
| 31 | SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 1.44614651 |
| 32 | * CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.40941237 |
| 33 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.39839258 |
| 34 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.38795964 |
| 35 | HNF4A_19761587_ChIP-ChIP_CACO-2_Human | 1.37822850 |
| 36 | IRF1_21803131_ChIP-Seq_MONOCYTES_Human | 1.37478543 |
| 37 | KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.34758674 |
| 38 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.34641063 |
| 39 | RXR_22158963_ChIP-Seq_LIVER_Mouse | 1.33987407 |
| 40 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.33141144 |
| 41 | MYB_21317192_ChIP-Seq_ERMYB_Mouse | 1.31893501 |
| 42 | GATA2_21666600_ChIP-Seq_HMVEC_Human | 1.31597307 |
| 43 | KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.31112491 |
| 44 | SOX9_24532713_ChIP-Seq_HFSC_Mouse | 1.30435847 |
| 45 | KLF5_25053715_ChIP-Seq_YYC3_Human | 1.28809872 |
| 46 | CDX2_20551321_ChIP-Seq_CACO-2_Human | 1.28414907 |
| 47 | FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.28009762 |
| 48 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.25719885 |
| 49 | CHD1_26751641_Chip-Seq_LNCaP_Human | 1.23814850 |
| 50 | ELF5_23300383_ChIP-Seq_T47D_Human | 1.23465948 |
| 51 | * FOXA1_25552417_ChIP-Seq_VCAP_Human | 1.20211232 |
| 52 | SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse | 1.20008584 |
| 53 | FOXO1_23066095_ChIP-Seq_LIVER_Mouse | 1.19927596 |
| 54 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.19761979 |
| 55 | SMAD_19615063_ChIP-ChIP_OVARY_Human | 1.18209660 |
| 56 | FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human | 1.17258719 |
| 57 | CDX2_22108803_ChIP-Seq_LS180_Human | 1.17033860 |
| 58 | FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.15502300 |
| 59 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.15006141 |
| 60 | ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 1.14893295 |
| 61 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.14704933 |
| 62 | NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human | 1.13502309 |
| 63 | FOXA1_26743006_Chip-Seq_LNCaP-abl_Human | 1.12867428 |
| 64 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.12246662 |
| 65 | PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 1.11779625 |
| 66 | JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.11678178 |
| 67 | * SOX2_20726797_ChIP-Seq_SW620_Human | 1.10036530 |
| 68 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.09197656 |
| 69 | * STAT3_20064451_ChIP-Seq_CD4+T_Mouse | 1.07753414 |
| 70 | P63_26484246_Chip-Seq_KERATINOCYTES_Human | 1.07353334 |
| 71 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 1.06683035 |
| 72 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 1.05346579 |
| 73 | BRD4_27068464_Chip-Seq_AML-cells_Mouse | 1.05325743 |
| 74 | NR1I2_20693526_ChIP-Seq_LIVER_Mouse | 1.04906397 |
| 75 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 1.03024401 |
| 76 | CJUN_26792858_Chip-Seq_BT549_Human | 1.02159802 |
| 77 | CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.02045980 |
| 78 | ATF3_27146783_Chip-Seq_COLON_Human | 1.01403567 |
| 79 | * IRF8_27001747_Chip-Seq_BMDM_Mouse | 1.01299851 |
| 80 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.00396902 |
| 81 | EOMES_20176728_ChIP-ChIP_TSCs_Mouse | 0.99871027 |
| 82 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 0.98750144 |
| 83 | VDR_24787735_ChIP-Seq_THP-1_Human | 0.98710058 |
| 84 | GATA1_22025678_ChIP-Seq_K562_Human | 0.96364767 |
| 85 | * FOXM1_26456572_ChIP-Seq_MCF-7_Human | 0.96245198 |
| 86 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 0.95399721 |
| 87 | RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human | 0.94480009 |
| 88 | JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 0.94240652 |
| 89 | * GATA3_24758297_ChIP-Seq_MCF-7_Human | 0.93388221 |
| 90 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 0.93146827 |
| 91 | AHR_22903824_ChIP-Seq_MCF-7_Human | 0.92107358 |
| 92 | BMI1_19503595_ChIP-Seq_MEFsC_Mouse | 0.91724935 |
| 93 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 0.91436085 |
| 94 | * TP63_23658742_ChIP-Seq_EP156T_Human | 0.90481311 |
| 95 | CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 0.90234307 |
| 96 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 0.89639459 |
| 97 | CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse | 0.89282736 |
| 98 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 0.88598394 |
| 99 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 0.88235328 |
| 100 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 0.88117466 |
| 101 | P300_27058665_Chip-Seq_ZR-75-30cells_Human | 0.88071231 |
| 102 | ZNF274_21170338_ChIP-Seq_K562_Hela | 0.87518264 |
| 103 | TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 0.86102179 |
| 104 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 0.85753535 |
| 105 | CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 0.85752507 |
| 106 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 0.85746655 |
| 107 | EGR1_23403033_ChIP-Seq_LIVER_Mouse | 0.85651447 |
| 108 | SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.85470445 |
| 109 | CREB1_26743006_Chip-Seq_LNCaP-abl_Human | 0.84092195 |
| 110 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 0.84044536 |
| 111 | RACK7_27058665_Chip-Seq_MCF-7_Human | 0.83886538 |
| 112 | MYB_26560356_Chip-Seq_TH2_Human | 0.83615708 |
| 113 | ERG_20517297_ChIP-Seq_VCAP_Human | 0.83543210 |
| 114 | IRF8_21731497_ChIP-ChIP_J774_Mouse | 0.83162016 |
| 115 | FOXA2_19822575_ChIP-Seq_HepG2_Human | 0.82464333 |
| 116 | VDR_24763502_ChIP-Seq_THP-1_Human | 0.82462158 |
| 117 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 0.82341776 |
| 118 | * TP63_22573176_ChIP-Seq_HFKS_Human | 0.82318149 |
| 119 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 0.82148220 |
| 120 | STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse | 0.81948515 |
| 121 | ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.80847436 |
| 122 | PPARA_22158963_ChIP-Seq_LIVER_Mouse | 0.80710711 |
| 123 | NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse | 0.80674479 |
| 124 | SALL4_18804426_ChIP-ChIP_XEN_Mouse | 0.79422823 |
| 125 | UBF1/2_26484160_Chip-Seq_HMECs_Human | 0.79161348 |
| 126 | PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 0.79078852 |
| 127 | TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 0.78978062 |
| 128 | GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse | 0.78972845 |
| 129 | TBX20_22328084_ChIP-Seq_HEART_Mouse | 0.78870286 |
| 130 | TBX20_22080862_ChIP-Seq_HEART_Mouse | 0.78870286 |
| 131 | LXR_22158963_ChIP-Seq_LIVER_Mouse | 0.78717589 |
| 132 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 0.78588815 |
| 133 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 0.78264943 |
| 134 | NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 0.77447719 |
| 135 | RUNX1_22412390_ChIP-Seq_EML_Mouse | 0.75066190 |
| 136 | TCF7_22412390_ChIP-Seq_EML_Mouse | 0.71430299 |
| 137 | CTNNB1_20460455_ChIP-Seq_HCT116_Human | 0.70799605 |
| 138 | MECOM_23826213_ChIP-Seq_KASUMI_Mouse | 0.65155957 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 7.75413359 |
| 2 | MP0010234_abnormal_vibrissa_follicle | 5.02224111 |
| 3 | MP0004264_abnormal_extraembryonic_tissu | 3.08103734 |
| 4 | MP0003300_gastrointestinal_ulcer | 2.69338381 |
| 5 | * MP0003698_abnormal_male_reproductive | 2.62724444 |
| 6 | * MP0001929_abnormal_gametogenesis | 2.57431855 |
| 7 | MP0002796_impaired_skin_barrier | 2.36230033 |
| 8 | MP0010352_gastrointestinal_tract_polyps | 2.23461298 |
| 9 | MP0001666_abnormal_nutrient_absorption | 2.09567476 |
| 10 | MP0000537_abnormal_urethra_morphology | 2.08723982 |
| 11 | MP0005409_darkened_coat_color | 1.96756229 |
| 12 | MP0001873_stomach_inflammation | 1.85214911 |
| 13 | MP0010678_abnormal_skin_adnexa | 1.84534163 |
| 14 | MP0003191_abnormal_cellular_cholesterol | 1.84415910 |
| 15 | MP0009780_abnormal_chondrocyte_physiolo | 1.81447300 |
| 16 | MP0003806_abnormal_nucleotide_metabolis | 1.79647810 |
| 17 | MP0001849_ear_inflammation | 1.73627397 |
| 18 | MP0002166_altered_tumor_susceptibility | 1.70625737 |
| 19 | MP0001881_abnormal_mammary_gland | 1.70256658 |
| 20 | * MP0001765_abnormal_ion_homeostasis | 1.69473615 |
| 21 | MP0008877_abnormal_DNA_methylation | 1.68774239 |
| 22 | MP0005377_hearing/vestibular/ear_phenot | 1.65634531 |
| 23 | MP0003878_abnormal_ear_physiology | 1.65634531 |
| 24 | MP0002210_abnormal_sex_determination | 1.62986798 |
| 25 | MP0005360_urolithiasis | 1.56166393 |
| 26 | MP0004381_abnormal_hair_follicle | 1.54509850 |
| 27 | MP0001216_abnormal_epidermal_layer | 1.54195692 |
| 28 | MP0005501_abnormal_skin_physiology | 1.52157218 |
| 29 | MP0003566_abnormal_cell_adhesion | 1.52010864 |
| 30 | MP0002254_reproductive_system_inflammat | 1.51499231 |
| 31 | MP0003705_abnormal_hypodermis_morpholog | 1.49550483 |
| 32 | MP0002138_abnormal_hepatobiliary_system | 1.47988210 |
| 33 | MP0000762_abnormal_tongue_morphology | 1.47762610 |
| 34 | * MP0001145_abnormal_male_reproductive | 1.46313950 |
| 35 | MP0000678_abnormal_parathyroid_gland | 1.46233196 |
| 36 | MP0009643_abnormal_urine_homeostasis | 1.46217944 |
| 37 | MP0002006_tumorigenesis | 1.44238546 |
| 38 | * MP0002161_abnormal_fertility/fecundity | 1.41063750 |
| 39 | MP0002282_abnormal_trachea_morphology | 1.39630009 |
| 40 | MP0003866_abnormal_defecation | 1.39317812 |
| 41 | * MP0004019_abnormal_vitamin_homeostasis | 1.37893253 |
| 42 | MP0010155_abnormal_intestine_physiology | 1.36847055 |
| 43 | MP0003453_abnormal_keratinocyte_physiol | 1.35844135 |
| 44 | MP0002136_abnormal_kidney_physiology | 1.35806618 |
| 45 | MP0004947_skin_inflammation | 1.35377418 |
| 46 | MP0002098_abnormal_vibrissa_morphology | 1.34884357 |
| 47 | MP0005076_abnormal_cell_differentiation | 1.33669853 |
| 48 | MP0000490_abnormal_crypts_of | 1.33448168 |
| 49 | MP0005451_abnormal_body_composition | 1.33236526 |
| 50 | MP0008004_abnormal_stomach_pH | 1.30472320 |
| 51 | MP0002060_abnormal_skin_morphology | 1.29661685 |
| 52 | MP0008260_abnormal_autophagy | 1.24859208 |
| 53 | MP0002653_abnormal_ependyma_morphology | 1.24450911 |
| 54 | MP0002877_abnormal_melanocyte_morpholog | 1.24014442 |
| 55 | MP0004043_abnormal_pH_regulation | 1.23948818 |
| 56 | MP0000383_abnormal_hair_follicle | 1.22648935 |
| 57 | * MP0000653_abnormal_sex_gland | 1.22575672 |
| 58 | MP0008875_abnormal_xenobiotic_pharmacok | 1.22422438 |
| 59 | MP0001663_abnormal_digestive_system | 1.20093914 |
| 60 | MP0005085_abnormal_gallbladder_physiolo | 1.18028148 |
| 61 | MP0000627_abnormal_mammary_gland | 1.17421623 |
| 62 | MP0005365_abnormal_bile_salt | 1.15399596 |
| 63 | MP0000377_abnormal_hair_follicle | 1.14233169 |
| 64 | * MP0005636_abnormal_mineral_homeostasis | 1.14208221 |
| 65 | MP0006054_spinal_hemorrhage | 1.13958718 |
| 66 | MP0005408_hypopigmentation | 1.13789146 |
| 67 | MP0005166_decreased_susceptibility_to | 1.13328982 |
| 68 | MP0002277_abnormal_respiratory_mucosa | 1.12968670 |
| 69 | MP0003436_decreased_susceptibility_to | 1.05252512 |
| 70 | MP0003941_abnormal_skin_development | 1.05201403 |
| 71 | MP0003693_abnormal_embryo_hatching | 1.04701441 |
| 72 | MP0003724_increased_susceptibility_to | 1.02943969 |
| 73 | MP0005381_digestive/alimentary_phenotyp | 1.02285778 |
| 74 | MP0000538_abnormal_urinary_bladder | 1.01925767 |
| 75 | MP0000462_abnormal_digestive_system | 1.01858260 |
| 76 | MP0000858_altered_metastatic_potential | 1.00826459 |
| 77 | MP0001958_emphysema | 0.97459773 |
| 78 | MP0000477_abnormal_intestine_morphology | 0.91715177 |
| 79 | MP0009278_abnormal_bone_marrow | 0.91665762 |
| 80 | MP0005023_abnormal_wound_healing | 0.91636941 |
| 81 | MP0000465_gastrointestinal_hemorrhage | 0.90602617 |
| 82 | MP0002132_abnormal_respiratory_system | 0.90581829 |
| 83 | MP0005058_abnormal_lysosome_morphology | 0.88741966 |
| 84 | MP0005275_abnormal_skin_tensile | 0.87609445 |
| 85 | MP0001664_abnormal_digestion | 0.86739613 |
| 86 | MP0000367_abnormal_coat/_hair | 0.86093702 |
| 87 | MP0010771_integument_phenotype | 0.85339528 |
| 88 | MP0000566_synostosis | 0.84074793 |
| 89 | MP0003045_fibrosis | 0.83887180 |
| 90 | MP0009785_altered_susceptibility_to | 0.81935064 |
| 91 | MP0005025_abnormal_response_to | 0.81460512 |
| 92 | MP0005332_abnormal_amino_acid | 0.81331585 |
| 93 | MP0001756_abnormal_urination | 0.80579781 |
| 94 | MP0009840_abnormal_foam_cell | 0.80203127 |
| 95 | MP0003075_altered_response_to | 0.80107999 |
| 96 | MP0001835_abnormal_antigen_presentation | 0.78949172 |
| 97 | MP0001845_abnormal_inflammatory_respons | 0.78702615 |
| 98 | MP0005164_abnormal_response_to | 0.78082615 |
| 99 | MP0002234_abnormal_pharynx_morphology | 0.78024294 |
| 100 | MP0003303_peritoneal_inflammation | 0.77912831 |
| 101 | MP0002896_abnormal_bone_mineralization | 0.77585303 |
| 102 | MP0002396_abnormal_hematopoietic_system | 0.77187951 |
| 103 | MP0005220_abnormal_exocrine_pancreas | 0.77000463 |
| 104 | MP0005165_increased_susceptibility_to | 0.76543364 |
| 105 | MP0002909_abnormal_adrenal_gland | 0.75550489 |
| 106 | MP0005623_abnormal_meninges_morphology | 0.75092147 |
| 107 | MP0002405_respiratory_system_inflammati | 0.74400392 |
| 108 | MP0010307_abnormal_tumor_latency | 0.74259074 |
| 109 | MP0005083_abnormal_biliary_tract | 0.73836410 |
| 110 | MP0003252_abnormal_bile_duct | 0.72656542 |
| 111 | MP0004272_abnormal_basement_membrane | 0.72596678 |
| 112 | MP0000427_abnormal_hair_cycle | 0.71987327 |
| 113 | MP0005310_abnormal_salivary_gland | 0.71896841 |
| 114 | MP0000470_abnormal_stomach_morphology | 0.71868324 |
| 115 | MP0001545_abnormal_hematopoietic_system | 0.71819595 |
| 116 | MP0005397_hematopoietic_system_phenotyp | 0.71819595 |
| 117 | MP0003868_abnormal_feces_composition | 0.71668097 |
| 118 | MP0003091_abnormal_cell_migration | 0.70848536 |
| 119 | MP0002009_preneoplasia | 0.70817445 |
| 120 | MP0006082_CNS_inflammation | 0.70752849 |
| 121 | MP0000613_abnormal_salivary_gland | 0.69624469 |
| 122 | MP0005075_abnormal_melanosome_morpholog | 0.67765358 |
| 123 | MP0001191_abnormal_skin_condition | 0.67653168 |
| 124 | MP0005248_abnormal_Harderian_gland | 0.66420440 |
| 125 | MP0002139_abnormal_hepatobiliary_system | 0.65937312 |
| 126 | MP0005666_abnormal_adipose_tissue | 0.65749475 |
| 127 | MP0003183_abnormal_peptide_metabolism | 0.65734259 |
| 128 | MP0002148_abnormal_hypersensitivity_rea | 0.65273341 |
| 129 | MP0009931_abnormal_skin_appearance | 0.65114175 |
| 130 | MP0003448_altered_tumor_morphology | 0.64805882 |
| 131 | MP0000467_abnormal_esophagus_morphology | 0.64801977 |
| 132 | MP0000579_abnormal_nail_morphology | 0.64149540 |
| 133 | MP0002135_abnormal_kidney_morphology | 0.62561310 |
| 134 | MP0001851_eye_inflammation | 0.62410468 |
| 135 | MP0002928_abnormal_bile_duct | 0.62394758 |
| 136 | MP0004782_abnormal_surfactant_physiolog | 0.60502208 |
| 137 | MP0001533_abnormal_skeleton_physiology | 0.60418634 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 9.72958805 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 8.63479922 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 8.63479922 |
| 4 | Abnormal respiratory motile cilium physiology (HP:0012261) | 6.64744246 |
| 5 | Chronic bronchitis (HP:0004469) | 6.50174983 |
| 6 | Nasal polyposis (HP:0100582) | 5.96810162 |
| 7 | Abnormal respiratory epithelium morphology (HP:0012253) | 5.88139520 |
| 8 | Abnormal respiratory motile cilium morphology (HP:0005938) | 5.88139520 |
| 9 | Rhinitis (HP:0012384) | 5.68772539 |
| 10 | Abnormal ciliary motility (HP:0012262) | 5.18840899 |
| 11 | Abnormality of the nasal mucosa (HP:0000433) | 4.87205860 |
| 12 | Infertility (HP:0000789) | 4.41264673 |
| 13 | Abnormality of nail color (HP:0100643) | 4.30453072 |
| 14 | Bronchiectasis (HP:0002110) | 3.93230746 |
| 15 | Thick nail (HP:0001805) | 3.87953232 |
| 16 | Bronchitis (HP:0012387) | 3.82273393 |
| 17 | Milia (HP:0001056) | 3.80222229 |
| 18 | Lip pit (HP:0100267) | 3.68384948 |
| 19 | Tubular atrophy (HP:0000092) | 3.66076328 |
| 20 | Abnormality of chloride homeostasis (HP:0011422) | 3.61112797 |
| 21 | Onycholysis (HP:0001806) | 3.49795151 |
| 22 | Tubulointerstitial fibrosis (HP:0005576) | 3.34238635 |
| 23 | Gout (HP:0001997) | 3.30127474 |
| 24 | Right ventricular cardiomyopathy (HP:0011663) | 3.28833586 |
| 25 | Hyperactive renin-angiotensin system (HP:0000841) | 3.13934398 |
| 26 | Male infertility (HP:0003251) | 3.08244134 |
| 27 | Elevated circulating parathyroid hormone (PTH) level (HP:0003165) | 3.06940188 |
| 28 | Fragile nails (HP:0001808) | 2.88899186 |
| 29 | * Abnormality of renal excretion (HP:0011036) | 2.82246883 |
| 30 | Popliteal pterygium (HP:0009756) | 2.81936276 |
| 31 | Pili torti (HP:0003777) | 2.81797013 |
| 32 | Plantar hyperkeratosis (HP:0007556) | 2.81454912 |
| 33 | Abnormality of the renal medulla (HP:0100957) | 2.80636299 |
| 34 | Ridged nail (HP:0001807) | 2.79750635 |
| 35 | Sparse eyelashes (HP:0000653) | 2.75035810 |
| 36 | Tubulointerstitial nephritis (HP:0001970) | 2.74164976 |
| 37 | Tubulointerstitial abnormality (HP:0001969) | 2.71979863 |
| 38 | Abnormal urine output (HP:0012590) | 2.69116044 |
| 39 | Polyuria (HP:0000103) | 2.64313643 |
| 40 | Atrophic scars (HP:0001075) | 2.62853713 |
| 41 | Curly hair (HP:0002212) | 2.51036879 |
| 42 | Nephronophthisis (HP:0000090) | 2.50323218 |
| 43 | Micronodular cirrhosis (HP:0001413) | 2.49245578 |
| 44 | Amelogenesis imperfecta (HP:0000705) | 2.47835361 |
| 45 | Hyperuricemia (HP:0002149) | 2.46602141 |
| 46 | Increased purine levels (HP:0004368) | 2.46602141 |
| 47 | Interstitial pulmonary disease (HP:0006530) | 2.45949323 |
| 48 | Periodontitis (HP:0000704) | 2.44662913 |
| 49 | Cheilitis (HP:0100825) | 2.43039229 |
| 50 | * Hypoplasia of dental enamel (HP:0006297) | 2.41463065 |
| 51 | Hypokalemic alkalosis (HP:0001949) | 2.38420236 |
| 52 | Recurrent sinusitis (HP:0011108) | 2.37850185 |
| 53 | Abnormality of the salivary glands (HP:0010286) | 2.37134421 |
| 54 | Fat malabsorption (HP:0002630) | 2.35409199 |
| 55 | Pterygium (HP:0001059) | 2.31614261 |
| 56 | Decreased circulating renin level (HP:0003351) | 2.30389160 |
| 57 | Recurrent otitis media (HP:0000403) | 2.29824426 |
| 58 | Abnormal drinking behavior (HP:0030082) | 2.29742174 |
| 59 | Polydipsia (HP:0001959) | 2.29742174 |
| 60 | Hypotrichosis (HP:0001006) | 2.28191081 |
| 61 | Rectal prolapse (HP:0002035) | 2.26867416 |
| 62 | Breast carcinoma (HP:0003002) | 2.24577731 |
| 63 | Flat acetabular roof (HP:0003180) | 2.19851363 |
| 64 | Abnormality of renin-angiotensin system (HP:0000847) | 2.19019580 |
| 65 | Abnormality of purine metabolism (HP:0004352) | 2.16219843 |
| 66 | Premature loss of primary teeth (HP:0006323) | 2.16181583 |
| 67 | Abnormality of the renal cortex (HP:0011035) | 2.15921786 |
| 68 | Abnormality of monocarboxylic acid metabolism (HP:0010996) | 2.15568454 |
| 69 | Metabolic alkalosis (HP:0200114) | 2.13768311 |
| 70 | Eczematoid dermatitis (HP:0000976) | 2.12528797 |
| 71 | Renal salt wasting (HP:0000127) | 2.12297082 |
| 72 | Pustule (HP:0200039) | 2.10188449 |
| 73 | Septate vagina (HP:0001153) | 2.09234268 |
| 74 | Tetany (HP:0001281) | 2.06896819 |
| 75 | Aplasia cutis congenita (HP:0001057) | 2.05234570 |
| 76 | Recurrent bronchitis (HP:0002837) | 2.03672333 |
| 77 | Stage 5 chronic kidney disease (HP:0003774) | 2.00844578 |
| 78 | Abnormal spermatogenesis (HP:0008669) | 2.00034457 |
| 79 | Recurrent bacterial skin infections (HP:0005406) | 1.99340958 |
| 80 | Ankyloglossia (HP:0010296) | 1.98398288 |
| 81 | Xerostomia (HP:0000217) | 1.98301154 |
| 82 | Chronic diarrhea (HP:0002028) | 1.97661530 |
| 83 | Palpitations (HP:0001962) | 1.97543412 |
| 84 | Steatorrhea (HP:0002570) | 1.97273512 |
| 85 | Selective tooth agenesis (HP:0001592) | 1.97202452 |
| 86 | Hoarse voice (HP:0001609) | 1.96139029 |
| 87 | Malnutrition (HP:0004395) | 1.94996921 |
| 88 | Abdominal distention (HP:0003270) | 1.92077820 |
| 89 | Hyperaldosteronism (HP:0000859) | 1.90799250 |
| 90 | Advanced eruption of teeth (HP:0006288) | 1.90030052 |
| 91 | Proximal tubulopathy (HP:0000114) | 1.89631078 |
| 92 | Natal tooth (HP:0000695) | 1.89156943 |
| 93 | Sparse scalp hair (HP:0002209) | 1.86719175 |
| 94 | Hyperkalemia (HP:0002153) | 1.86591617 |
| 95 | Hypomagnesemia (HP:0002917) | 1.85803019 |
| 96 | Subacute progressive viral hepatitis (HP:0006572) | 1.83493987 |
| 97 | Erythema (HP:0010783) | 1.82410954 |
| 98 | Gingivitis (HP:0000230) | 1.80990886 |
| 99 | Cone-shaped epiphyses of the phalanges of the hand (HP:0010230) | 1.80559031 |
| 100 | Abnormal biliary tract morphology (HP:0012440) | 1.79666772 |
| 101 | Hyperparathyroidism (HP:0000843) | 1.79569885 |
| 102 | Intrahepatic cholestasis (HP:0001406) | 1.79199643 |
| 103 | Vacuolated lymphocytes (HP:0001922) | 1.78960096 |
| 104 | Skin ulcer (HP:0200042) | 1.78671602 |
| 105 | Fragile skin (HP:0001030) | 1.78464577 |
| 106 | Abnormality of the axillary hair (HP:0100134) | 1.76112688 |
| 107 | Abnormality of secondary sexual hair (HP:0009888) | 1.76112688 |
| 108 | Hyponatremia (HP:0002902) | 1.74015500 |
| 109 | Hand muscle atrophy (HP:0009130) | 1.73643322 |
| 110 | Nail dystrophy (HP:0008404) | 1.73610212 |
| 111 | Blepharitis (HP:0000498) | 1.73426280 |
| 112 | Abnormal hair laboratory examination (HP:0003328) | 1.71996664 |
| 113 | Hypoplastic labia majora (HP:0000059) | 1.71530415 |
| 114 | Recurrent abscess formation (HP:0002722) | 1.71375421 |
| 115 | Urticaria (HP:0001025) | 1.70907270 |
| 116 | Palmoplantar hyperkeratosis (HP:0000972) | 1.70489341 |
| 117 | Biliary tract neoplasm (HP:0100574) | 1.70310912 |
| 118 | Absent eyelashes (HP:0000561) | 1.70062898 |
| 119 | Broad face (HP:0000283) | 1.69680089 |
| 120 | Spinal cord compression (HP:0002176) | 1.69573386 |
| 121 | Dry hair (HP:0011359) | 1.69425425 |
| 122 | Dehydration (HP:0001944) | 1.68196240 |
| 123 | Abnormality of glutamine family amino acid metabolism (HP:0010902) | 1.68112545 |
| 124 | Increased circulating renin level (HP:0000848) | 1.66601349 |
| 125 | Azoospermia (HP:0000027) | 1.66304889 |
| 126 | Abnormality of the gastric mucosa (HP:0004295) | 1.65098079 |
| 127 | Delayed epiphyseal ossification (HP:0002663) | 1.64576595 |
| 128 | Metaphyseal cupping (HP:0003021) | 1.64113771 |
| 129 | Glomerulosclerosis (HP:0000096) | 1.61570828 |
| 130 | Esophageal varix (HP:0002040) | 1.61281277 |
| 131 | Protuberant abdomen (HP:0001538) | 1.59634776 |
| 132 | Abnormality of proline metabolism (HP:0010907) | 1.58349768 |
| 133 | Hydroxyprolinuria (HP:0003080) | 1.58349768 |
| 134 | Abnormality of the distal phalanges of the toes (HP:0010182) | 1.57056930 |
| 135 | Absent frontal sinuses (HP:0002688) | 1.56556625 |
| 136 | 11 pairs of ribs (HP:0000878) | 1.54928809 |
| 137 | Osteolytic defects of the hand bones (HP:0009699) | 1.53960760 |
| 138 | Osteolytic defects of the phalanges of the hand (HP:0009771) | 1.53960760 |
| 139 | Palmar hyperkeratosis (HP:0010765) | 1.51672004 |
| 140 | Short nail (HP:0001799) | 1.50678272 |
| 141 | Alopecia of scalp (HP:0002293) | 1.49665486 |
| 142 | Abnormal blistering of the skin (HP:0008066) | 1.48595960 |
| 143 | Abnormality of small intestinal villus morphology (HP:0011472) | 1.47655821 |
| 144 | Villous atrophy (HP:0011473) | 1.47655821 |
| 145 | Abnormality of magnesium homeostasis (HP:0004921) | 1.47516121 |
| 146 | Abnormality of the labia majora (HP:0012881) | 1.46968598 |
| 147 | Glucose intolerance (HP:0000833) | 1.46860702 |
| 148 | Epiphyseal dysplasia (HP:0002656) | 1.45205619 |
| 149 | Hypodontia (HP:0000668) | 1.43906192 |
| 150 | Short ribs (HP:0000773) | 1.42631631 |
| 151 | Ileus (HP:0002595) | 1.42582815 |
| 152 | Woolly hair (HP:0002224) | 1.41029281 |
| 153 | Choroideremia (HP:0001139) | 1.40848986 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK4 | 6.65134780 |
| 2 | PDK3 | 6.65134780 |
| 3 | PDK2 | 4.51182010 |
| 4 | EPHA2 | 4.20750484 |
| 5 | TESK1 | 3.84315849 |
| 6 | WNK4 | 3.53595255 |
| 7 | STK39 | 3.00970588 |
| 8 | STK24 | 2.82383411 |
| 9 | MST4 | 2.79714051 |
| 10 | MAP3K12 | 2.62905700 |
| 11 | MST1R | 2.21138317 |
| 12 | BMPR2 | 1.94900930 |
| 13 | LMTK2 | 1.91450756 |
| 14 | FRK | 1.89531721 |
| 15 | SMG1 | 1.63164814 |
| 16 | STK38L | 1.56146976 |
| 17 | PRKD3 | 1.53820630 |
| 18 | STK10 | 1.50824369 |
| 19 | EEF2K | 1.49897529 |
| 20 | ICK | 1.42488583 |
| 21 | LATS1 | 1.38778191 |
| 22 | STK3 | 1.37787789 |
| 23 | PTK6 | 1.31106395 |
| 24 | TRIB3 | 1.27671588 |
| 25 | PTK2B | 1.24874668 |
| 26 | ERN1 | 1.22227701 |
| 27 | NEK2 | 1.19795273 |
| 28 | SCYL2 | 1.19550088 |
| 29 | FER | 1.15513728 |
| 30 | EPHB1 | 1.14633923 |
| 31 | MAP2K2 | 1.12897273 |
| 32 | SIK3 | 1.12036321 |
| 33 | PAK4 | 1.07018197 |
| 34 | OXSR1 | 1.03246860 |
| 35 | ACVR1B | 1.03140082 |
| 36 | MAP3K3 | 1.01181742 |
| 37 | LRRK2 | 1.00980401 |
| 38 | MAP3K2 | 1.00164000 |
| 39 | STK38 | 0.99948110 |
| 40 | NEK6 | 0.98887374 |
| 41 | IRAK4 | 0.96162158 |
| 42 | DYRK1B | 0.95170493 |
| 43 | RPS6KB2 | 0.93418837 |
| 44 | YES1 | 0.93151597 |
| 45 | RIPK1 | 0.92517881 |
| 46 | PTK2 | 0.87774783 |
| 47 | ARAF | 0.85771931 |
| 48 | IRAK2 | 0.83700674 |
| 49 | MAP3K9 | 0.78789467 |
| 50 | MAPKAPK3 | 0.75342874 |
| 51 | CDK6 | 0.73521426 |
| 52 | NEK9 | 0.73331500 |
| 53 | MET | 0.71937087 |
| 54 | WNK3 | 0.71923873 |
| 55 | PRKG2 | 0.71478816 |
| 56 | SIK1 | 0.70080637 |
| 57 | IRAK1 | 0.68906662 |
| 58 | TRPM7 | 0.68435577 |
| 59 | PDK1 | 0.67603924 |
| 60 | WNK1 | 0.64831661 |
| 61 | FGFR3 | 0.64000931 |
| 62 | PKN2 | 0.63091064 |
| 63 | RIPK4 | 0.62904004 |
| 64 | IKBKE | 0.62514036 |
| 65 | TTK | 0.60974691 |
| 66 | TBK1 | 0.59445177 |
| 67 | PDGFRB | 0.58563106 |
| 68 | PNCK | 0.58286732 |
| 69 | EIF2AK3 | 0.56917555 |
| 70 | CDK12 | 0.56701893 |
| 71 | DDR2 | 0.56393253 |
| 72 | MYLK | 0.56121622 |
| 73 | ZAP70 | 0.55142312 |
| 74 | CSF1R | 0.53962919 |
| 75 | PRKD2 | 0.52326561 |
| 76 | TGFBR2 | 0.51657133 |
| 77 | ILK | 0.49765607 |
| 78 | MATK | 0.49179427 |
| 79 | JAK1 | 0.48064973 |
| 80 | IKBKB | 0.47732869 |
| 81 | MAP3K13 | 0.46020016 |
| 82 | CAMK1G | 0.45962220 |
| 83 | BMX | 0.45113932 |
| 84 | MAP3K6 | 0.42780862 |
| 85 | MAP3K8 | 0.42565597 |
| 86 | SGK3 | 0.42426676 |
| 87 | TTN | 0.42143539 |
| 88 | CSK | 0.41718201 |
| 89 | MTOR | 0.40968420 |
| 90 | JAK3 | 0.40692296 |
| 91 | PIM2 | 0.39415325 |
| 92 | MAPK15 | 0.39091007 |
| 93 | CHUK | 0.37317629 |
| 94 | BRSK2 | 0.36871629 |
| 95 | PDPK1 | 0.36756574 |
| 96 | BCR | 0.35764142 |
| 97 | HIPK2 | 0.35547504 |
| 98 | EPHB2 | 0.35061931 |
| 99 | NUAK1 | 0.34428474 |
| 100 | MAP4K1 | 0.34280501 |
| 101 | TYRO3 | 0.34159706 |
| 102 | PRKCI | 0.34022735 |
| 103 | TRIM28 | 0.33422746 |
| 104 | FGFR4 | 0.33192353 |
| 105 | KSR2 | 0.32958839 |
| 106 | RPS6KA4 | 0.32652212 |
| 107 | EPHA3 | 0.32600725 |
| 108 | RPS6KA2 | 0.32222662 |
| 109 | CDC42BPA | 0.32173780 |
| 110 | MAPKAPK2 | 0.31509579 |
| 111 | CAMK1D | 0.31207223 |
| 112 | PRKAA2 | 0.30654905 |
| 113 | FGR | 0.30407035 |
| 114 | NME2 | 0.29288142 |
| 115 | RET | 0.29269888 |
| 116 | AURKB | 0.28836943 |
| 117 | PASK | 0.28018583 |
| 118 | MAP2K6 | 0.27790284 |
| 119 | PIK3CA | 0.27728937 |
| 120 | PIM1 | 0.27697009 |
| 121 | EGFR | 0.27674392 |
| 122 | GSK3A | 0.26954260 |
| 123 | PAK2 | 0.26534684 |
| 124 | MELK | 0.25460248 |
| 125 | TAOK1 | 0.24876605 |
| 126 | EIF2AK1 | 0.24757858 |
| 127 | TYK2 | 0.23938840 |
| 128 | DYRK3 | 0.23513167 |
| 129 | ERBB3 | 0.20147672 |
| 130 | GRK6 | 0.19976983 |
| 131 | PAK1 | 0.19466063 |
| 132 | ERBB2 | 0.19200156 |
| 133 | RPS6KA1 | 0.18521342 |
| 134 | MAP3K14 | 0.18517819 |
| 135 | PLK4 | 0.17527820 |
| 136 | MAP3K1 | 0.16977550 |
| 137 | IRAK3 | 0.16361699 |
| 138 | CHEK1 | 0.15916878 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Mineral absorption_Homo sapiens_hsa04978 | 2.92939634 |
| 2 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 2.85734277 |
| 3 | Pyruvate metabolism_Homo sapiens_hsa00620 | 2.77696492 |
| 4 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 2.63245148 |
| 5 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 2.34416498 |
| 6 | Protein digestion and absorption_Homo sapiens_hsa04974 | 2.25353198 |
| 7 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 2.19220466 |
| 8 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.13846430 |
| 9 | Fat digestion and absorption_Homo sapiens_hsa04975 | 2.07582439 |
| 10 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.94883075 |
| 11 | Renin-angiotensin system_Homo sapiens_hsa04614 | 1.94814588 |
| 12 | * Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.92629301 |
| 13 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.90067539 |
| 14 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.83421675 |
| 15 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 1.79804436 |
| 16 | Sulfur metabolism_Homo sapiens_hsa00920 | 1.77250603 |
| 17 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 1.66341432 |
| 18 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.62851425 |
| 19 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 1.57537115 |
| 20 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.55729360 |
| 21 | Thyroid cancer_Homo sapiens_hsa05216 | 1.54286864 |
| 22 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.51810742 |
| 23 | Pancreatic secretion_Homo sapiens_hsa04972 | 1.48364273 |
| 24 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.44618176 |
| 25 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.44366238 |
| 26 | Adherens junction_Homo sapiens_hsa04520 | 1.37675560 |
| 27 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 1.36789552 |
| 28 | ECM-receptor interaction_Homo sapiens_hsa04512 | 1.35800934 |
| 29 | Other glycan degradation_Homo sapiens_hsa00511 | 1.35118721 |
| 30 | Toxoplasmosis_Homo sapiens_hsa05145 | 1.33269968 |
| 31 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.33139363 |
| 32 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.32534582 |
| 33 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.29107629 |
| 34 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.28945601 |
| 35 | Tight junction_Homo sapiens_hsa04530 | 1.28330534 |
| 36 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 1.27097548 |
| 37 | Legionellosis_Homo sapiens_hsa05134 | 1.26955108 |
| 38 | Small cell lung cancer_Homo sapiens_hsa05222 | 1.25826732 |
| 39 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 1.23056346 |
| 40 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 1.22162164 |
| 41 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 1.15924049 |
| 42 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.15808327 |
| 43 | Retinol metabolism_Homo sapiens_hsa00830 | 1.14800337 |
| 44 | Carbon metabolism_Homo sapiens_hsa01200 | 1.13614695 |
| 45 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 1.11872166 |
| 46 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.10965161 |
| 47 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.07254019 |
| 48 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 1.05521827 |
| 49 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 1.05174890 |
| 50 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 1.01543344 |
| 51 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.01360912 |
| 52 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 1.00242960 |
| 53 | Endometrial cancer_Homo sapiens_hsa05213 | 0.98594027 |
| 54 | Bladder cancer_Homo sapiens_hsa05219 | 0.96639279 |
| 55 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.95884549 |
| 56 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.95753700 |
| 57 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.94340473 |
| 58 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.92821055 |
| 59 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.91531522 |
| 60 | Salmonella infection_Homo sapiens_hsa05132 | 0.89343270 |
| 61 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.88898861 |
| 62 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.87833492 |
| 63 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.86368686 |
| 64 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.85658430 |
| 65 | Influenza A_Homo sapiens_hsa05164 | 0.83401372 |
| 66 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.80297272 |
| 67 | Bile secretion_Homo sapiens_hsa04976 | 0.79350455 |
| 68 | Prostate cancer_Homo sapiens_hsa05215 | 0.78960875 |
| 69 | Renal cell carcinoma_Homo sapiens_hsa05211 | 0.76801709 |
| 70 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.75094890 |
| 71 | Amoebiasis_Homo sapiens_hsa05146 | 0.74688696 |
| 72 | Asthma_Homo sapiens_hsa05310 | 0.70689230 |
| 73 | TNF signaling pathway_Homo sapiens_hsa04668 | 0.70119038 |
| 74 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.69601633 |
| 75 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.68819923 |
| 76 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.67908445 |
| 77 | Shigellosis_Homo sapiens_hsa05131 | 0.66818501 |
| 78 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 0.65936178 |
| 79 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.65841826 |
| 80 | Allograft rejection_Homo sapiens_hsa05330 | 0.65619129 |
| 81 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.65542619 |
| 82 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.65179770 |
| 83 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.65078779 |
| 84 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.64439679 |
| 85 | Hepatitis C_Homo sapiens_hsa05160 | 0.63065551 |
| 86 | Toll-like receptor signaling pathway_Homo sapiens_hsa04620 | 0.62465139 |
| 87 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.61940976 |
| 88 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.61834634 |
| 89 | Chagas disease (American trypanosomiasis)_Homo sapiens_hsa05142 | 0.61520911 |
| 90 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.60889447 |
| 91 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.60861096 |
| 92 | Leishmaniasis_Homo sapiens_hsa05140 | 0.59551193 |
| 93 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.58697389 |
| 94 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.57704438 |
| 95 | Focal adhesion_Homo sapiens_hsa04510 | 0.57590505 |
| 96 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.57299221 |
| 97 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.57163145 |
| 98 | Galactose metabolism_Homo sapiens_hsa00052 | 0.57138631 |
| 99 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.56597079 |
| 100 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.55517051 |
| 101 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.55166637 |
| 102 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.55112179 |
| 103 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.54954194 |
| 104 | Tuberculosis_Homo sapiens_hsa05152 | 0.53604102 |
| 105 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 0.53212588 |
| 106 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.52456500 |
| 107 | Lysosome_Homo sapiens_hsa04142 | 0.51608469 |
| 108 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.51145775 |
| 109 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.51006610 |
| 110 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.51003876 |
| 111 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 0.50807349 |
| 112 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 0.50768592 |
| 113 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 0.50480175 |
| 114 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.48781161 |
| 115 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.48757331 |
| 116 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.47750900 |
| 117 | Osteoclast differentiation_Homo sapiens_hsa04380 | 0.47629880 |
| 118 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.47425982 |
| 119 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.46709356 |
| 120 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 0.46218068 |
| 121 | Endocytosis_Homo sapiens_hsa04144 | 0.43256454 |
| 122 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.41682866 |
| 123 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.41544195 |
| 124 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.40995433 |
| 125 | Histidine metabolism_Homo sapiens_hsa00340 | 0.40365923 |
| 126 | Malaria_Homo sapiens_hsa05144 | 0.40051376 |
| 127 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.39252156 |
| 128 | Basal transcription factors_Homo sapiens_hsa03022 | 0.39233038 |
| 129 | Measles_Homo sapiens_hsa05162 | 0.37476740 |
| 130 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.36842912 |
| 131 | Insulin resistance_Homo sapiens_hsa04931 | 0.36326523 |
| 132 | Apoptosis_Homo sapiens_hsa04210 | 0.36116917 |

