

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | COPI coating of Golgi vesicle (GO:0048205) | 8.49572089 |
| 2 | Golgi transport vesicle coating (GO:0048200) | 8.49572089 |
| 3 | maintenance of protein localization in endoplasmic reticulum (GO:0035437) | 5.93886019 |
| 4 | signal peptide processing (GO:0006465) | 5.33593594 |
| 5 | protein retention in ER lumen (GO:0006621) | 5.03879419 |
| 6 | COPII vesicle coating (GO:0048208) | 4.99899653 |
| 7 | sequestering of metal ion (GO:0051238) | 4.44585862 |
| 8 | retrograde vesicle-mediated transport, Golgi to ER (GO:0006890) | 4.13242456 |
| 9 | activation of signaling protein activity involved in unfolded protein response (GO:0006987) | 4.12199266 |
| 10 | folic acid-containing compound biosynthetic process (GO:0009396) | 4.12027866 |
| 11 | positive regulation of nuclease activity (GO:0032075) | 4.07739709 |
| 12 | ribosome assembly (GO:0042255) | 3.86492166 |
| 13 | regulation of nuclease activity (GO:0032069) | 3.81612212 |
| 14 | endoplasmic reticulum unfolded protein response (GO:0030968) | 3.78190335 |
| 15 | cellular response to unfolded protein (GO:0034620) | 3.70165854 |
| 16 | UDP-N-acetylglucosamine metabolic process (GO:0006047) | 3.62031037 |
| 17 | cellular response to topologically incorrect protein (GO:0035967) | 3.55395337 |
| 18 | ER-nucleus signaling pathway (GO:0006984) | 3.48127439 |
| 19 | vesicle coating (GO:0006901) | 3.39175930 |
| 20 | protein maturation by protein folding (GO:0022417) | 3.36338404 |
| 21 | establishment of integrated proviral latency (GO:0075713) | 3.34934646 |
| 22 | ER overload response (GO:0006983) | 3.31825885 |
| 23 | desmosome organization (GO:0002934) | 3.18949819 |
| 24 | * protein N-linked glycosylation via asparagine (GO:0018279) | 3.17826578 |
| 25 | proteasome assembly (GO:0043248) | 3.15829219 |
| 26 | * peptidyl-asparagine modification (GO:0018196) | 3.15331086 |
| 27 | tRNA aminoacylation (GO:0043039) | 3.05041494 |
| 28 | amino acid activation (GO:0043038) | 3.05041494 |
| 29 | response to endoplasmic reticulum stress (GO:0034976) | 3.01803492 |
| 30 | exocrine pancreas development (GO:0031017) | 2.99272838 |
| 31 | ER-associated ubiquitin-dependent protein catabolic process (GO:0030433) | 2.97297602 |
| 32 | IMP biosynthetic process (GO:0006188) | 2.95042224 |
| 33 | regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714) | 2.94985712 |
| 34 | hemidesmosome assembly (GO:0031581) | 2.94889399 |
| 35 | lactate metabolic process (GO:0006089) | 2.93245784 |
| 36 | * protein N-linked glycosylation (GO:0006487) | 2.90605861 |
| 37 | cellular response to vitamin D (GO:0071305) | 2.90395504 |
| 38 | pteridine-containing compound biosynthetic process (GO:0042559) | 2.89530474 |
| 39 | response to unfolded protein (GO:0006986) | 2.87974274 |
| 40 | L-serine transport (GO:0015825) | 2.87886760 |
| 41 | keratan sulfate catabolic process (GO:0042340) | 2.82425244 |
| 42 | mitotic sister chromatid segregation (GO:0000070) | 2.78295857 |
| 43 | response to topologically incorrect protein (GO:0035966) | 2.78083815 |
| 44 | 4-hydroxyproline metabolic process (GO:0019471) | 2.77289368 |
| 45 | antigen processing and presentation of endogenous peptide antigen (GO:0002483) | 2.76526925 |
| 46 | antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885) | 2.76526925 |
| 47 | dolichol-linked oligosaccharide biosynthetic process (GO:0006488) | 2.74928357 |
| 48 | regulation of attachment of spindle microtubules to kinetochore (GO:0051988) | 2.74248802 |
| 49 | regulation of translational termination (GO:0006449) | 2.74119185 |
| 50 | regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547) | 2.73100828 |
| 51 | collagen fibril organization (GO:0030199) | 2.72598752 |
| 52 | peptide catabolic process (GO:0043171) | 2.71993969 |
| 53 | establishment of viral latency (GO:0019043) | 2.71804669 |
| 54 | ER to Golgi vesicle-mediated transport (GO:0006888) | 2.71525721 |
| 55 | nucleobase biosynthetic process (GO:0046112) | 2.70744760 |
| 56 | tetrahydrofolate metabolic process (GO:0046653) | 2.70045898 |
| 57 | nucleotide-sugar biosynthetic process (GO:0009226) | 2.69741871 |
| 58 | non-recombinational repair (GO:0000726) | 2.69664269 |
| 59 | double-strand break repair via nonhomologous end joining (GO:0006303) | 2.69664269 |
| 60 | proline biosynthetic process (GO:0006561) | 2.65928203 |
| 61 | nuclear pore organization (GO:0006999) | 2.65046251 |
| 62 | nucleotide-sugar metabolic process (GO:0009225) | 2.61822832 |
| 63 | nucleobase-containing small molecule interconversion (GO:0015949) | 2.60059137 |
| 64 | nuclear pore complex assembly (GO:0051292) | 2.56701845 |
| 65 | peptide hormone processing (GO:0016486) | 2.56147714 |
| 66 | sister chromatid segregation (GO:0000819) | 2.55359681 |
| 67 | endocrine pancreas development (GO:0031018) | 2.54882749 |
| 68 | IMP metabolic process (GO:0046040) | 2.54878062 |
| 69 | mitotic metaphase plate congression (GO:0007080) | 2.54872110 |
| 70 | zinc ion transport (GO:0006829) | 2.54833091 |
| 71 | protein autoprocessing (GO:0016540) | 2.52254737 |
| 72 | metaphase plate congression (GO:0051310) | 2.51851291 |
| 73 | regulation of mitotic spindle organization (GO:0060236) | 2.51578288 |
| 74 | chaperone-mediated protein folding (GO:0061077) | 2.51339505 |
| 75 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) | 2.50311195 |
| 76 | regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902235 | 2.50122482 |
| 77 | DNA unwinding involved in DNA replication (GO:0006268) | 2.49617979 |
| 78 | regulation of metalloenzyme activity (GO:0048552) | 2.48651466 |
| 79 | histone-serine phosphorylation (GO:0035404) | 2.48626315 |
| 80 | mitotic nuclear envelope disassembly (GO:0007077) | 2.47103117 |
| 81 | positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437) | 2.46848212 |
| 82 | protein localization to kinetochore (GO:0034501) | 2.45776308 |
| 83 | regulation of vascular endothelial growth factor signaling pathway (GO:1900746) | 2.43901974 |
| 84 | L-serine metabolic process (GO:0006563) | 2.43384593 |
| 85 | positive regulation of actin filament depolymerization (GO:0030836) | 2.43292573 |
| 86 | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436) | 2.43026107 |
| 87 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0 | 2.41200625 |
| 88 | zinc ion transmembrane transport (GO:0071577) | 2.40861041 |
| 89 | formation of translation preinitiation complex (GO:0001731) | 2.40119745 |
| 90 | regulation of cellular amino acid metabolic process (GO:0006521) | 2.38163112 |
| 91 | apoptotic cell clearance (GO:0043277) | 2.38096490 |
| 92 | regulation of ER to Golgi vesicle-mediated transport (GO:0060628) | 2.38022287 |
| 93 | purine nucleobase biosynthetic process (GO:0009113) | 2.37280046 |
| 94 | chondrocyte proliferation (GO:0035988) | 2.35682568 |
| 95 | long-chain fatty-acyl-CoA biosynthetic process (GO:0035338) | 2.35605144 |
| 96 | regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091 | 2.35369782 |
| 97 | tricarboxylic acid cycle (GO:0006099) | 2.34812091 |
| 98 | antigen processing and presentation of endogenous antigen (GO:0019883) | 2.34473699 |
| 99 | type B pancreatic cell development (GO:0003323) | 2.33283476 |
| 100 | positive regulation of mitotic metaphase/anaphase transition (GO:0045842) | 2.32590602 |
| 101 | positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101) | 2.32590602 |
| 102 | positive regulation of mitotic sister chromatid separation (GO:1901970) | 2.32590602 |
| 103 | regulation of translational elongation (GO:0006448) | 2.31820543 |
| 104 | peptidyl-proline hydroxylation (GO:0019511) | 2.30723153 |
| 105 | negative regulation of ligase activity (GO:0051352) | 2.30001886 |
| 106 | negative regulation of ubiquitin-protein transferase activity (GO:0051444) | 2.30001886 |
| 107 | misfolded or incompletely synthesized protein catabolic process (GO:0006515) | 2.28925444 |
| 108 | lipopolysaccharide biosynthetic process (GO:0009103) | 2.28649019 |
| 109 | cellular response to vitamin (GO:0071295) | 2.28643859 |
| 110 | mitotic sister chromatid cohesion (GO:0007064) | 2.28497367 |
| 111 | mitotic chromosome condensation (GO:0007076) | 2.28361844 |
| 112 | membrane disassembly (GO:0030397) | 2.27596879 |
| 113 | nuclear envelope disassembly (GO:0051081) | 2.27596879 |
| 114 | pyrimidine ribonucleoside monophosphate metabolic process (GO:0009173) | 2.27431372 |
| 115 | UMP biosynthetic process (GO:0006222) | 2.27431372 |
| 116 | pyrimidine ribonucleoside monophosphate biosynthetic process (GO:0009174) | 2.27431372 |
| 117 | UMP metabolic process (GO:0046049) | 2.27431372 |
| 118 | telomere maintenance via semi-conservative replication (GO:0032201) | 2.26410410 |
| 119 | retina vasculature morphogenesis in camera-type eye (GO:0061299) | 2.25768014 |
| 120 | folic acid-containing compound metabolic process (GO:0006760) | 2.25741876 |
| 121 | cell redox homeostasis (GO:0045454) | 2.21659614 |
| 122 | skin morphogenesis (GO:0043589) | 2.19657549 |
| 123 | pyrimidine nucleoside monophosphate biosynthetic process (GO:0009130) | 2.17735990 |
| 124 | pore complex assembly (GO:0046931) | 2.16231513 |
| 125 | protein hydroxylation (GO:0018126) | 2.15250843 |
| 126 | production of molecular mediator involved in inflammatory response (GO:0002532) | 2.12811005 |
| 127 | negative regulation of glycoprotein biosynthetic process (GO:0010561) | 2.12724443 |
| 128 | cell adhesion mediated by integrin (GO:0033627) | 2.11892433 |
| 129 | regulation of translational fidelity (GO:0006450) | 2.11866022 |
| 130 | antigen processing and presentation of peptide antigen via MHC class I (GO:0002474) | 2.11415335 |
| 131 | maintenance of protein localization in organelle (GO:0072595) | 2.10347582 |
| 132 | negative regulation of fatty acid transport (GO:2000192) | 2.08677705 |
| 133 | DNA strand elongation involved in DNA replication (GO:0006271) | 2.08153644 |
| 134 | chaperone mediated protein folding requiring cofactor (GO:0051085) | 2.07627974 |
| 135 | regulation of spindle organization (GO:0090224) | 2.04201876 |
| 136 | glandular epithelial cell development (GO:0002068) | 2.04107889 |
| 137 | pteridine-containing compound metabolic process (GO:0042558) | 2.03229106 |
| 138 | viral mRNA export from host cell nucleus (GO:0046784) | 2.01139201 |
| 139 | translesion synthesis (GO:0019985) | 1.99422739 |
| 140 | folic acid metabolic process (GO:0046655) | 1.97528160 |
| 141 | Golgi organization (GO:0007030) | 1.97395948 |
| 142 | DNA strand elongation (GO:0022616) | 1.97267333 |
| 143 | pyrimidine nucleoside monophosphate metabolic process (GO:0009129) | 1.95986364 |
| 144 | glandular epithelial cell differentiation (GO:0002067) | 1.94913157 |
| 145 | cellular response to glucose starvation (GO:0042149) | 1.94531510 |
| 146 | SRP-dependent cotranslational protein targeting to membrane (GO:0006614) | 1.94452877 |
| 147 | L-alpha-amino acid transmembrane transport (GO:1902475) | 1.94293422 |
| 148 | tRNA aminoacylation for protein translation (GO:0006418) | 1.91248709 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | E2F7_22180533_ChIP-Seq_HELA_Human | 6.13083409 |
| 2 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 3.33117139 |
| 3 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 2.98509253 |
| 4 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 2.90645835 |
| 5 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 2.76404814 |
| 6 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 2.70764118 |
| 7 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 2.63044491 |
| 8 | * EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 2.53499802 |
| 9 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 2.52798060 |
| 10 | GATA1_22025678_ChIP-Seq_K562_Human | 2.51798243 |
| 11 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 2.31591628 |
| 12 | ELK1_19687146_ChIP-ChIP_HELA_Human | 2.24620290 |
| 13 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 2.17272816 |
| 14 | ZNF263_19887448_ChIP-Seq_K562_Human | 2.14696837 |
| 15 | AR_21909140_ChIP-Seq_LNCAP_Human | 2.14116665 |
| 16 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 2.11713965 |
| 17 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 2.09765704 |
| 18 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 2.04339973 |
| 19 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 2.01892909 |
| 20 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 2.01073701 |
| 21 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 1.92688084 |
| 22 | CLOCK_20551151_ChIP-Seq_293T_Human | 1.90707046 |
| 23 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 1.89594826 |
| 24 | * MYC_19030024_ChIP-ChIP_MESCs_Mouse | 1.88297005 |
| 25 | SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse | 1.79732554 |
| 26 | * KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 1.72470116 |
| 27 | FOXP3_17237761_ChIP-ChIP_TREG_Mouse | 1.72259386 |
| 28 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 1.68143659 |
| 29 | VDR_23849224_ChIP-Seq_CD4+_Human | 1.67855653 |
| 30 | * TFEB_21752829_ChIP-Seq_HELA_Human | 1.67412812 |
| 31 | * JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 1.65176995 |
| 32 | E2F1_18555785_ChIP-Seq_MESCs_Mouse | 1.64744944 |
| 33 | * ASXL1_24218140_ChIP-Seq_BMDM_Mouse | 1.61020027 |
| 34 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.60549275 |
| 35 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 1.60067630 |
| 36 | HOXB4_20404135_ChIP-ChIP_EML_Mouse | 1.59303788 |
| 37 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 1.58860085 |
| 38 | FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 1.58736151 |
| 39 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 1.58432747 |
| 40 | * MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.56561260 |
| 41 | * PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 1.55852883 |
| 42 | ERG_20887958_ChIP-Seq_HPC-7_Mouse | 1.55733510 |
| 43 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.55261755 |
| 44 | ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.55127409 |
| 45 | SFPI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.55020904 |
| 46 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.53078312 |
| 47 | PRDM5_23873026_ChIP-Seq_MEFs_Mouse | 1.53030894 |
| 48 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.52437892 |
| 49 | * MYC_19079543_ChIP-ChIP_MESCs_Mouse | 1.52403529 |
| 50 | STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse | 1.48878547 |
| 51 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 1.48811835 |
| 52 | FOXP3_21729870_ChIP-Seq_TREG_Human | 1.46880817 |
| 53 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 1.46409179 |
| 54 | MYB_21317192_ChIP-Seq_ERMYB_Mouse | 1.46056886 |
| 55 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 1.45042550 |
| 56 | IRF8_22096565_ChIP-ChIP_GC-B_Mouse | 1.44765589 |
| 57 | TAL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.43802660 |
| 58 | GABP_19822575_ChIP-Seq_HepG2_Human | 1.43644629 |
| 59 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 1.41735572 |
| 60 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 1.40967817 |
| 61 | NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 1.40500935 |
| 62 | PADI4_21655091_ChIP-ChIP_MCF-7_Human | 1.38809847 |
| 63 | CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 1.38174812 |
| 64 | * MYCN_18555785_ChIP-Seq_MESCs_Mouse | 1.37607217 |
| 65 | * NANOG_18555785_ChIP-Seq_MESCs_Mouse | 1.36481580 |
| 66 | XRN2_22483619_ChIP-Seq_HELA_Human | 1.35454804 |
| 67 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 1.34356500 |
| 68 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.30937819 |
| 69 | STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse | 1.29985793 |
| 70 | * MYC_22102868_ChIP-Seq_BL_Human | 1.28339971 |
| 71 | * MECOM_23826213_ChIP-Seq_KASUMI_Mouse | 1.25846382 |
| 72 | DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 1.24737423 |
| 73 | SPI1_23547873_ChIP-Seq_NB4_Human | 1.23642952 |
| 74 | SPI1_22096565_ChIP-ChIP_GC-B_Mouse | 1.23524627 |
| 75 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.23501123 |
| 76 | FLI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.22366428 |
| 77 | ESR1_15608294_ChIP-ChIP_MCF-7_Human | 1.22244679 |
| 78 | SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 1.22085188 |
| 79 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 1.21680040 |
| 80 | HNF4A_19761587_ChIP-ChIP_CACO-2_Human | 1.20367383 |
| 81 | ELK1_22589737_ChIP-Seq_MCF10A_Human | 1.19196341 |
| 82 | KDM5A_27292631_Chip-Seq_BREAST_Human | 1.18939302 |
| 83 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 1.18247895 |
| 84 | NKX2-5_21415370_ChIP-Seq_HL-1_Mouse | 1.17336630 |
| 85 | NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse | 1.16193104 |
| 86 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.15202138 |
| 87 | SRF_21415370_ChIP-Seq_HL-1_Mouse | 1.13637650 |
| 88 | * CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat | 1.13443735 |
| 89 | KLF4_18555785_ChIP-Seq_MESCs_Mouse | 1.11305523 |
| 90 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.10364655 |
| 91 | CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 1.09285839 |
| 92 | GFI1B_20887958_ChIP-Seq_HPC-7_Mouse | 1.08240579 |
| 93 | * MYB_26560356_Chip-Seq_TH2_Human | 1.07676686 |
| 94 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 1.07253067 |
| 95 | YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.06819684 |
| 96 | CHD1_26751641_Chip-Seq_LNCaP_Human | 1.06702915 |
| 97 | SOX17_20123909_ChIP-Seq_XEN_Mouse | 1.06645078 |
| 98 | IRF8_21731497_ChIP-ChIP_J774_Mouse | 1.04876074 |
| 99 | * CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.04609184 |
| 100 | SALL4_18804426_ChIP-ChIP_XEN_Mouse | 1.03310275 |
| 101 | TBX5_21415370_ChIP-Seq_HL-1_Mouse | 1.02051582 |
| 102 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 1.02038927 |
| 103 | BRD4_25478319_ChIP-Seq_HGPS_Human | 1.01388053 |
| 104 | KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.01271952 |
| 105 | GATA6_25053715_ChIP-Seq_YYC3_Human | 1.01022278 |
| 106 | ASH2L_23239880_ChIP-Seq_MESCs_Mouse | 1.00956256 |
| 107 | CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human | 1.00622828 |
| 108 | ELF5_23300383_ChIP-Seq_T47D_Human | 1.00256589 |
| 109 | PPARA_22158963_ChIP-Seq_LIVER_Mouse | 1.00033131 |
| 110 | ATF3_27146783_Chip-Seq_COLON_Human | 0.99935578 |
| 111 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 0.99506719 |
| 112 | FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.99262402 |
| 113 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 0.98317992 |
| 114 | TTF2_22483619_ChIP-Seq_HELA_Human | 0.97854082 |
| 115 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 0.97785321 |
| 116 | MEF2A_21415370_ChIP-Seq_HL-1_Mouse | 0.97290791 |
| 117 | SMAD3_18955504_ChIP-ChIP_HaCaT_Human | 0.96966928 |
| 118 | SMAD2_18955504_ChIP-ChIP_HaCaT_Human | 0.96966928 |
| 119 | WT1_19549856_ChIP-ChIP_CCG9911_Human | 0.96256973 |
| 120 | ATF3_23680149_ChIP-Seq_GBM1-GSC_Human | 0.95746563 |
| 121 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 0.95710126 |
| 122 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 0.94511202 |
| 123 | * CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 0.94388206 |
| 124 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 0.94085809 |
| 125 | EOMES_20176728_ChIP-ChIP_TSCs_Mouse | 0.93925895 |
| 126 | * MYB_26560356_Chip-Seq_TH1_Human | 0.93863742 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0008438_abnormal_cutaneous_collagen | 3.92301731 |
| 2 | MP0010234_abnormal_vibrissa_follicle | 3.53426688 |
| 3 | MP0006054_spinal_hemorrhage | 3.35603489 |
| 4 | MP0002877_abnormal_melanocyte_morpholog | 3.01079567 |
| 5 | MP0003941_abnormal_skin_development | 2.44967088 |
| 6 | MP0003950_abnormal_plasma_membrane | 2.43311192 |
| 7 | MP0003693_abnormal_embryo_hatching | 2.33033143 |
| 8 | MP0010352_gastrointestinal_tract_polyps | 2.12273715 |
| 9 | MP0005503_abnormal_tendon_morphology | 2.11775834 |
| 10 | MP0005275_abnormal_skin_tensile | 2.04086369 |
| 11 | MP0003705_abnormal_hypodermis_morpholog | 1.99311616 |
| 12 | MP0003300_gastrointestinal_ulcer | 1.98332316 |
| 13 | MP0004264_abnormal_extraembryonic_tissu | 1.90834230 |
| 14 | MP0005220_abnormal_exocrine_pancreas | 1.90710540 |
| 15 | MP0005623_abnormal_meninges_morphology | 1.76241786 |
| 16 | MP0003195_calcinosis | 1.66226364 |
| 17 | MP0003566_abnormal_cell_adhesion | 1.66001346 |
| 18 | MP0008007_abnormal_cellular_replicative | 1.63775154 |
| 19 | MP0004957_abnormal_blastocyst_morpholog | 1.63709067 |
| 20 | MP0000013_abnormal_adipose_tissue | 1.58712994 |
| 21 | MP0004272_abnormal_basement_membrane | 1.56767465 |
| 22 | MP0003806_abnormal_nucleotide_metabolis | 1.56128164 |
| 23 | MP0003183_abnormal_peptide_metabolism | 1.51688878 |
| 24 | MP0009384_cardiac_valve_regurgitation | 1.51411592 |
| 25 | MP0005023_abnormal_wound_healing | 1.50582343 |
| 26 | MP0003283_abnormal_digestive_organ | 1.50150716 |
| 27 | MP0002396_abnormal_hematopoietic_system | 1.49331918 |
| 28 | MP0005058_abnormal_lysosome_morphology | 1.46081397 |
| 29 | MP0010307_abnormal_tumor_latency | 1.45264022 |
| 30 | MP0003279_aneurysm | 1.44352242 |
| 31 | MP0001661_extended_life_span | 1.38825091 |
| 32 | MP0010368_abnormal_lymphatic_system | 1.33397036 |
| 33 | MP0002896_abnormal_bone_mineralization | 1.33262606 |
| 34 | MP0002933_joint_inflammation | 1.30648801 |
| 35 | MP0010094_abnormal_chromosome_stability | 1.29993679 |
| 36 | MP0005408_hypopigmentation | 1.28071426 |
| 37 | MP0002254_reproductive_system_inflammat | 1.26860773 |
| 38 | MP0001944_abnormal_pancreas_morphology | 1.25667244 |
| 39 | MP0001849_ear_inflammation | 1.25330455 |
| 40 | MP0002938_white_spotting | 1.23753438 |
| 41 | MP0002060_abnormal_skin_morphology | 1.23371147 |
| 42 | MP0010678_abnormal_skin_adnexa | 1.21162525 |
| 43 | MP0003786_premature_aging | 1.20863773 |
| 44 | MP0003718_maternal_effect | 1.20808114 |
| 45 | MP0001299_abnormal_eye_distance/ | 1.20533196 |
| 46 | MP0005076_abnormal_cell_differentiation | 1.20418213 |
| 47 | MP0000537_abnormal_urethra_morphology | 1.19781332 |
| 48 | MP0002693_abnormal_pancreas_physiology | 1.19546183 |
| 49 | MP0001243_abnormal_dermal_layer | 1.18619956 |
| 50 | MP0003077_abnormal_cell_cycle | 1.15237949 |
| 51 | MP0001533_abnormal_skeleton_physiology | 1.13893942 |
| 52 | MP0003172_abnormal_lysosome_physiology | 1.13062941 |
| 53 | MP0002139_abnormal_hepatobiliary_system | 1.11745211 |
| 54 | MP0000358_abnormal_cell_content/ | 1.11364104 |
| 55 | MP0001958_emphysema | 1.11300147 |
| 56 | MP0004233_abnormal_muscle_weight | 1.10338416 |
| 57 | MP0000858_altered_metastatic_potential | 1.08313815 |
| 58 | MP0002084_abnormal_developmental_patter | 1.06335749 |
| 59 | MP0003937_abnormal_limbs/digits/tail_de | 1.06008374 |
| 60 | MP0010030_abnormal_orbit_morphology | 1.04410259 |
| 61 | MP0000490_abnormal_crypts_of | 1.04249066 |
| 62 | MP0003123_paternal_imprinting | 1.04171317 |
| 63 | MP0008057_abnormal_DNA_replication | 1.03911794 |
| 64 | MP0003795_abnormal_bone_structure | 1.03607134 |
| 65 | MP0005257_abnormal_intraocular_pressure | 1.03448788 |
| 66 | MP0003385_abnormal_body_wall | 1.02384255 |
| 67 | MP0002166_altered_tumor_susceptibility | 1.01522405 |
| 68 | MP0003186_abnormal_redox_activity | 1.00662034 |
| 69 | MP0003436_decreased_susceptibility_to | 1.00204744 |
| 70 | MP0004808_abnormal_hematopoietic_stem | 1.00187360 |
| 71 | MP0003868_abnormal_feces_composition | 1.00030369 |
| 72 | MP0005508_abnormal_skeleton_morphology | 0.99396294 |
| 73 | MP0000647_abnormal_sebaceous_gland | 0.98397865 |
| 74 | MP0001666_abnormal_nutrient_absorption | 0.97864256 |
| 75 | MP0005390_skeleton_phenotype | 0.97606213 |
| 76 | MP0005395_other_phenotype | 0.96622691 |
| 77 | MP0005365_abnormal_bile_salt | 0.95947136 |
| 78 | MP0002085_abnormal_embryonic_tissue | 0.95391160 |
| 79 | MP0001542_abnormal_bone_strength | 0.94913600 |
| 80 | MP0001216_abnormal_epidermal_layer | 0.94077033 |
| 81 | MP0000762_abnormal_tongue_morphology | 0.93061529 |
| 82 | MP0001881_abnormal_mammary_gland | 0.91938006 |
| 83 | MP0000627_abnormal_mammary_gland | 0.91457096 |
| 84 | MP0000163_abnormal_cartilage_morphology | 0.90873713 |
| 85 | MP0005501_abnormal_skin_physiology | 0.90124528 |
| 86 | MP0003252_abnormal_bile_duct | 0.90023426 |
| 87 | MP0000465_gastrointestinal_hemorrhage | 0.89769877 |
| 88 | MP0003111_abnormal_nucleus_morphology | 0.88323873 |
| 89 | MP0003943_abnormal_hepatobiliary_system | 0.88254620 |
| 90 | MP0002928_abnormal_bile_duct | 0.87659623 |
| 91 | MP0005197_abnormal_uvea_morphology | 0.87329787 |
| 92 | MP0005171_absent_coat_pigmentation | 0.86637655 |
| 93 | MP0009333_abnormal_splenocyte_physiolog | 0.86303870 |
| 94 | MP0003942_abnormal_urinary_system | 0.86263634 |
| 95 | MP0005165_increased_susceptibility_to | 0.86208648 |
| 96 | MP0005367_renal/urinary_system_phenotyp | 0.85079124 |
| 97 | MP0000516_abnormal_urinary_system | 0.85079124 |
| 98 | MP0001730_embryonic_growth_arrest | 0.84787408 |
| 99 | MP0005187_abnormal_penis_morphology | 0.84588402 |
| 100 | MP0002115_abnormal_skeleton_extremities | 0.84150945 |
| 101 | MP0009053_abnormal_anal_canal | 0.83817741 |
| 102 | MP0004197_abnormal_fetal_growth/weight/ | 0.83724859 |
| 103 | MP0002111_abnormal_tail_morphology | 0.83386717 |
| 104 | MP0003315_abnormal_perineum_morphology | 0.83351971 |
| 105 | MP0001915_intracranial_hemorrhage | 0.82309476 |
| 106 | MP0009643_abnormal_urine_homeostasis | 0.81435509 |
| 107 | MP0000432_abnormal_head_morphology | 0.80757134 |
| 108 | MP0000003_abnormal_adipose_tissue | 0.80222631 |
| 109 | MP0002113_abnormal_skeleton_development | 0.80190906 |
| 110 | MP0000350_abnormal_cell_proliferation | 0.79925767 |
| 111 | MP0002295_abnormal_pulmonary_circulatio | 0.79564834 |
| 112 | MP0002697_abnormal_eye_size | 0.78785744 |
| 113 | MP0002086_abnormal_extraembryonic_tissu | 0.78592349 |
| 114 | MP0000377_abnormal_hair_follicle | 0.78575672 |
| 115 | MP0009672_abnormal_birth_weight | 0.78111997 |
| 116 | MP0010386_abnormal_urinary_bladder | 0.77835626 |
| 117 | MP0000767_abnormal_smooth_muscle | 0.77164910 |
| 118 | MP0002168_other_aberrant_phenotype | 0.77058860 |
| 119 | MP0001835_abnormal_antigen_presentation | 0.76797282 |
| 120 | MP0003755_abnormal_palate_morphology | 0.76424083 |
| 121 | MP0009780_abnormal_chondrocyte_physiolo | 0.76409320 |
| 122 | MP0005384_cellular_phenotype | 0.75718655 |
| 123 | MP0000534_abnormal_ureter_morphology | 0.75630630 |
| 124 | MP0002796_impaired_skin_barrier | 0.75440980 |
| 125 | MP0004134_abnormal_chest_morphology | 0.74890811 |
| 126 | MP0000598_abnormal_liver_morphology | 0.73927543 |
| 127 | MP0003984_embryonic_growth_retardation | 0.71886209 |
| 128 | MP0004947_skin_inflammation | 0.71401763 |
| 129 | MP0005084_abnormal_gallbladder_morpholo | 0.71346453 |
| 130 | MP0000613_abnormal_salivary_gland | 0.71263653 |
| 131 | MP0002088_abnormal_embryonic_growth/wei | 0.71054812 |
| 132 | MP0003724_increased_susceptibility_to | 0.70609491 |
| 133 | MP0002419_abnormal_innate_immunity | 0.70517690 |
| 134 | MP0008932_abnormal_embryonic_tissue | 0.70036077 |
| 135 | MP0004782_abnormal_surfactant_physiolog | 0.69971817 |
| 136 | MP0000428_abnormal_craniofacial_morphol | 0.68133253 |
| 137 | MP0000477_abnormal_intestine_morphology | 0.66393579 |
| 138 | MP0001845_abnormal_inflammatory_respons | 0.66101962 |
| 139 | MP0005380_embryogenesis_phenotype | 0.65896904 |
| 140 | MP0001672_abnormal_embryogenesis/_devel | 0.65896904 |
| 141 | MP0005464_abnormal_platelet_physiology | 0.65765818 |
| 142 | MP0002998_abnormal_bone_remodeling | 0.65593181 |
| 143 | MP0002006_tumorigenesis | 0.65547278 |
| 144 | MP0010155_abnormal_intestine_physiology | 0.65143003 |
| 145 | MP0002080_prenatal_lethality | 0.63448733 |
| 146 | MP0009697_abnormal_copulation | 0.63387979 |
| 147 | MP0001697_abnormal_embryo_size | 0.63278112 |
| 148 | MP0008058_abnormal_DNA_repair | 0.62961396 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Cervical subluxation (HP:0003308) | 4.23783443 |
| 2 | Premature rupture of membranes (HP:0001788) | 3.80554254 |
| 3 | Protrusio acetabuli (HP:0003179) | 3.70048666 |
| 4 | Abnormality of the intrinsic pathway (HP:0010989) | 3.22976743 |
| 5 | Hypoglycemic coma (HP:0001325) | 3.17327869 |
| 6 | Abnormality of glycolysis (HP:0004366) | 2.97237250 |
| 7 | Epiphyseal dysplasia (HP:0002656) | 2.96452346 |
| 8 | Hypoglycemic seizures (HP:0002173) | 2.95630171 |
| 9 | Asymmetry of the thorax (HP:0001555) | 2.92146872 |
| 10 | Hyperinsulinemic hypoglycemia (HP:0000825) | 2.84619067 |
| 11 | Thoracolumbar scoliosis (HP:0002944) | 2.84006150 |
| 12 | Beaking of vertebral bodies (HP:0004568) | 2.82140751 |
| 13 | Abnormal foot bone ossification (HP:0010675) | 2.80312760 |
| 14 | Cardiovascular calcification (HP:0011915) | 2.78593169 |
| 15 | Aortic dissection (HP:0002647) | 2.67464668 |
| 16 | Vascular calcification (HP:0004934) | 2.63373764 |
| 17 | Aortic aneurysm (HP:0004942) | 2.55955973 |
| 18 | Increased serum pyruvate (HP:0003542) | 2.53574579 |
| 19 | Short nail (HP:0001799) | 2.53427724 |
| 20 | Metaphyseal cupping (HP:0003021) | 2.50971479 |
| 21 | Soft skin (HP:0000977) | 2.50927292 |
| 22 | Symptomatic seizures (HP:0011145) | 2.49796980 |
| 23 | Pancreatic islet-cell hyperplasia (HP:0004510) | 2.48818761 |
| 24 | Thrombocytosis (HP:0001894) | 2.46254379 |
| 25 | Abnormality of the pancreatic islet cells (HP:0006476) | 2.45732189 |
| 26 | Abnormality of endocrine pancreas physiology (HP:0012093) | 2.45732189 |
| 27 | Orthostatic hypotension (HP:0001278) | 2.42641257 |
| 28 | Abnormality of the anterior horn cell (HP:0006802) | 2.42464065 |
| 29 | Degeneration of anterior horn cells (HP:0002398) | 2.42464065 |
| 30 | Platyspondyly (HP:0000926) | 2.41915418 |
| 31 | Hypokinesia (HP:0002375) | 2.40797967 |
| 32 | Arterial tortuosity (HP:0005116) | 2.37909860 |
| 33 | Abnormal gallbladder physiology (HP:0012438) | 2.37782715 |
| 34 | Cholecystitis (HP:0001082) | 2.37782715 |
| 35 | Hyperglycemia (HP:0003074) | 2.35941472 |
| 36 | Vascular tortuosity (HP:0004948) | 2.35225249 |
| 37 | Mucopolysacchariduria (HP:0008155) | 2.33039359 |
| 38 | Urinary glycosaminoglycan excretion (HP:0003541) | 2.33039359 |
| 39 | Microglossia (HP:0000171) | 2.32346114 |
| 40 | Abnormality of the common coagulation pathway (HP:0010990) | 2.31743959 |
| 41 | Vacuolated lymphocytes (HP:0001922) | 2.29663325 |
| 42 | 11 pairs of ribs (HP:0000878) | 2.29219220 |
| 43 | Abnormality of carpal bone ossification (HP:0006257) | 2.26825933 |
| 44 | Pterygium (HP:0001059) | 2.25893132 |
| 45 | Abnormal tarsal ossification (HP:0008369) | 2.24748433 |
| 46 | Abnormality of methionine metabolism (HP:0010901) | 2.24635864 |
| 47 | Peritonitis (HP:0002586) | 2.24459639 |
| 48 | Spondylolisthesis (HP:0003302) | 2.23488202 |
| 49 | Abnormal delivery (HP:0001787) | 2.23395608 |
| 50 | Abnormality of dentin (HP:0010299) | 2.22459335 |
| 51 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 2.19886559 |
| 52 | Broad face (HP:0000283) | 2.19652352 |
| 53 | Entropion (HP:0000621) | 2.18474519 |
| 54 | Fragile skin (HP:0001030) | 2.18473612 |
| 55 | Osteolytic defects of the hand bones (HP:0009699) | 2.18278558 |
| 56 | Osteolytic defects of the phalanges of the hand (HP:0009771) | 2.18278558 |
| 57 | Wormian bones (HP:0002645) | 2.17973629 |
| 58 | Small epiphyses (HP:0010585) | 2.17368515 |
| 59 | Cupped ribs (HP:0000887) | 2.17099929 |
| 60 | Abnormal pancreas size (HP:0012094) | 2.16356734 |
| 61 | Delayed epiphyseal ossification (HP:0002663) | 2.15771244 |
| 62 | Irregular epiphyses (HP:0010582) | 2.15764268 |
| 63 | Atrophic scars (HP:0001075) | 2.15691211 |
| 64 | Blue sclerae (HP:0000592) | 2.14711481 |
| 65 | Nonimmune hydrops fetalis (HP:0001790) | 2.14507255 |
| 66 | Abnormality of the acetabulum (HP:0003170) | 2.14003167 |
| 67 | Dysostosis multiplex (HP:0000943) | 2.13898496 |
| 68 | Flat capital femoral epiphysis (HP:0003370) | 2.13612999 |
| 69 | Vertebral compression fractures (HP:0002953) | 2.13154840 |
| 70 | Breech presentation (HP:0001623) | 2.11463939 |
| 71 | Hypoplasia of the odontoid process (HP:0003311) | 2.08947009 |
| 72 | Overlapping toe (HP:0001845) | 2.07641458 |
| 73 | Ependymoma (HP:0002888) | 2.06775397 |
| 74 | Ankle contracture (HP:0006466) | 2.06196146 |
| 75 | Nuclear cataract (HP:0100018) | 2.05501258 |
| 76 | Abnormality of the umbilical cord (HP:0010881) | 2.03014126 |
| 77 | Back pain (HP:0003418) | 1.99719463 |
| 78 | Abnormalities of placenta or umbilical cord (HP:0001194) | 1.98677799 |
| 79 | Cerebral aneurysm (HP:0004944) | 1.98364647 |
| 80 | Missing ribs (HP:0000921) | 1.97373383 |
| 81 | Type I transferrin isoform profile (HP:0003642) | 1.97217544 |
| 82 | Hypobetalipoproteinemia (HP:0003563) | 1.96678374 |
| 83 | Generalized aminoaciduria (HP:0002909) | 1.96079950 |
| 84 | Cutaneous melanoma (HP:0012056) | 1.95834400 |
| 85 | Syringomyelia (HP:0003396) | 1.94888560 |
| 86 | Spinal cord lesions (HP:0100561) | 1.94888560 |
| 87 | Abnormality of mucopolysaccharide metabolism (HP:0011020) | 1.94749208 |
| 88 | Abnormality of polysaccharide metabolism (HP:0011012) | 1.94749208 |
| 89 | Abnormality of glycosaminoglycan metabolism (HP:0004371) | 1.94749208 |
| 90 | Biconcave vertebral bodies (HP:0004586) | 1.94602352 |
| 91 | Mesomelia (HP:0003027) | 1.94230255 |
| 92 | Irregular vertebral endplates (HP:0003301) | 1.93060041 |
| 93 | Severe short stature (HP:0003510) | 1.92502924 |
| 94 | Dilatation of the ascending aorta (HP:0005111) | 1.92333265 |
| 95 | Osteoarthritis (HP:0002758) | 1.91931259 |
| 96 | Right ventricular cardiomyopathy (HP:0011663) | 1.91811936 |
| 97 | Aplasia/Hypoplasia of the vertebrae (HP:0008515) | 1.91678210 |
| 98 | Vertebral hypoplasia (HP:0008417) | 1.91678210 |
| 99 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 1.90284221 |
| 100 | Abnormal protein N-linked glycosylation (HP:0012347) | 1.90284221 |
| 101 | Abnormal protein glycosylation (HP:0012346) | 1.90284221 |
| 102 | Abnormal glycosylation (HP:0012345) | 1.90284221 |
| 103 | Mitral stenosis (HP:0001718) | 1.90263965 |
| 104 | Abnormality of the odontoid process (HP:0003310) | 1.89666173 |
| 105 | Natal tooth (HP:0000695) | 1.89536905 |
| 106 | Abnormality of the calcaneus (HP:0008364) | 1.88972626 |
| 107 | Insulin-resistant diabetes mellitus (HP:0000831) | 1.88535586 |
| 108 | Abnormality of the distal phalanges of the toes (HP:0010182) | 1.86948334 |
| 109 | Disproportionate short-trunk short stature (HP:0003521) | 1.85108808 |
| 110 | Joint stiffness (HP:0001387) | 1.84926577 |
| 111 | Bladder diverticulum (HP:0000015) | 1.83263103 |
| 112 | Trismus (HP:0000211) | 1.83117397 |
| 113 | Protuberant abdomen (HP:0001538) | 1.82850319 |
| 114 | Flat acetabular roof (HP:0003180) | 1.82207544 |
| 115 | Hand muscle atrophy (HP:0009130) | 1.81881128 |
| 116 | Thin bony cortex (HP:0002753) | 1.80476661 |
| 117 | Follicular hyperkeratosis (HP:0007502) | 1.78920158 |
| 118 | Reduced antithrombin III activity (HP:0001976) | 1.77873030 |
| 119 | Neonatal short-limb short stature (HP:0008921) | 1.77852552 |
| 120 | Spastic diplegia (HP:0001264) | 1.77595757 |
| 121 | Aplastic anemia (HP:0001915) | 1.77083898 |
| 122 | Insidious onset (HP:0003587) | 1.76358002 |
| 123 | Termporal pattern (HP:0011008) | 1.76358002 |
| 124 | Aplasia/Hypoplasia of the frontal sinuses (HP:0009119) | 1.75963471 |
| 125 | Elevated circulating parathyroid hormone (PTH) level (HP:0003165) | 1.75640548 |
| 126 | Coxa valga (HP:0002673) | 1.74889930 |
| 127 | Secondary amenorrhea (HP:0000869) | 1.74596974 |
| 128 | Ovoid vertebral bodies (HP:0003300) | 1.72426304 |
| 129 | Delayed gross motor development (HP:0002194) | 1.70046772 |
| 130 | Advanced eruption of teeth (HP:0006288) | 1.69372923 |
| 131 | Abnormal vertebral ossification (HP:0100569) | 1.68990427 |
| 132 | Abnormality of the astrocytes (HP:0100707) | 1.68836741 |
| 133 | Astrocytoma (HP:0009592) | 1.68836741 |
| 134 | Osteomalacia (HP:0002749) | 1.68642291 |
| 135 | Tetraparesis (HP:0002273) | 1.68210735 |
| 136 | Hypoplasia of the thymus (HP:0000778) | 1.67584510 |
| 137 | Spinal cord compression (HP:0002176) | 1.66794184 |
| 138 | Intrahepatic cholestasis (HP:0001406) | 1.66455189 |
| 139 | Abnormality of the lumbar spine (HP:0100712) | 1.66453571 |
| 140 | Aortic regurgitation (HP:0001659) | 1.66375194 |
| 141 | Abnormal umbilical cord blood vessels (HP:0011403) | 1.66311038 |
| 142 | Single umbilical artery (HP:0001195) | 1.66311038 |
| 143 | Abnormality of the fetal cardiovascular system (HP:0010948) | 1.66311038 |
| 144 | Mild short stature (HP:0003502) | 1.66272015 |
| 145 | Metaphyseal irregularity (HP:0003025) | 1.66105105 |
| 146 | Abnormality of the vertebral endplates (HP:0005106) | 1.65202778 |
| 147 | Abdominal distention (HP:0003270) | 1.64690271 |
| 148 | Stillbirth (HP:0003826) | 1.64649337 |
| 149 | Sparse eyelashes (HP:0000653) | 1.64205909 |
| 150 | Unilateral renal agenesis (HP:0000122) | 1.64019758 |
| 151 | Alopecia of scalp (HP:0002293) | 1.63723540 |
| 152 | Upper limb amyotrophy (HP:0009129) | 1.62873466 |
| 153 | Distal upper limb amyotrophy (HP:0007149) | 1.62873466 |
| 154 | Chromsome breakage (HP:0040012) | 1.61986979 |
| 155 | Abnormal ossification of hand bones (HP:0005921) | 1.61635349 |
| 156 | Upper limb muscle weakness (HP:0003484) | 1.60245390 |
| 157 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 1.60105434 |
| 158 | Elbow flexion contracture (HP:0002987) | 1.58823823 |
| 159 | Prominent metopic ridge (HP:0005487) | 1.56777133 |
| 160 | Congenital glaucoma (HP:0001087) | 1.56741356 |
| 161 | Abnormal hand bone ossification (HP:0010660) | 1.55556506 |
| 162 | Abnormality of oral frenula (HP:0000190) | 1.53805918 |
| 163 | Ulnar bowing (HP:0003031) | 1.51521980 |
| 164 | Increased nuchal translucency (HP:0010880) | 1.49573617 |
| 165 | Renal duplication (HP:0000075) | 1.49212363 |
| 166 | Deviation of the thumb (HP:0009603) | 1.49065146 |
| 167 | Bowel diverticulosis (HP:0005222) | 1.48637403 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PASK | 3.46882485 |
| 2 | FLT3 | 2.99909675 |
| 3 | MST1R | 2.60686551 |
| 4 | ERN1 | 2.56822783 |
| 5 | NEK1 | 2.50688534 |
| 6 | TAOK3 | 2.39546726 |
| 7 | EIF2AK3 | 2.27083246 |
| 8 | BRSK2 | 2.20643772 |
| 9 | TRIM28 | 2.17521273 |
| 10 | VRK2 | 2.05276057 |
| 11 | LATS1 | 2.00526382 |
| 12 | FRK | 1.97840109 |
| 13 | SCYL2 | 1.96661242 |
| 14 | PBK | 1.86899010 |
| 15 | EPHA2 | 1.85612685 |
| 16 | INSRR | 1.75476865 |
| 17 | FER | 1.66354910 |
| 18 | MAP3K3 | 1.62818745 |
| 19 | NUAK1 | 1.59365848 |
| 20 | TSSK6 | 1.55158146 |
| 21 | BCR | 1.52094597 |
| 22 | STK10 | 1.50909545 |
| 23 | ERBB4 | 1.50249622 |
| 24 | JAK3 | 1.46918929 |
| 25 | ICK | 1.46740753 |
| 26 | EPHA3 | 1.45437179 |
| 27 | PIK3CG | 1.41817508 |
| 28 | MST4 | 1.39129103 |
| 29 | PKN2 | 1.38360921 |
| 30 | MET | 1.38033829 |
| 31 | TESK1 | 1.36703067 |
| 32 | TGFBR1 | 1.36461843 |
| 33 | EIF2AK1 | 1.34641884 |
| 34 | STK3 | 1.33336197 |
| 35 | RPS6KA4 | 1.31761700 |
| 36 | CDC7 | 1.31306985 |
| 37 | TIE1 | 1.30688628 |
| 38 | TRIB3 | 1.30616504 |
| 39 | NEK9 | 1.29358784 |
| 40 | BUB1 | 1.29056727 |
| 41 | MKNK1 | 1.25178636 |
| 42 | DDR2 | 1.24643168 |
| 43 | PDGFRA | 1.23558800 |
| 44 | TGFBR2 | 1.22864033 |
| 45 | SIK1 | 1.22749397 |
| 46 | PLK2 | 1.18380146 |
| 47 | LMTK2 | 1.17025475 |
| 48 | PTK6 | 1.16564253 |
| 49 | SMG1 | 1.12174712 |
| 50 | ZAP70 | 1.11098070 |
| 51 | WEE1 | 1.10411737 |
| 52 | PLK3 | 1.09264602 |
| 53 | MYLK | 1.08745723 |
| 54 | LATS2 | 1.06363718 |
| 55 | TRPM7 | 1.04466288 |
| 56 | RPS6KB2 | 1.04150544 |
| 57 | VRK1 | 1.02941178 |
| 58 | LRRK2 | 1.02204098 |
| 59 | TEC | 1.02188484 |
| 60 | CLK1 | 0.98275465 |
| 61 | ACVR1B | 0.95514228 |
| 62 | ERBB3 | 0.94531756 |
| 63 | PDK2 | 0.94190787 |
| 64 | PIM2 | 0.93773610 |
| 65 | MAP3K12 | 0.93152447 |
| 66 | PAK4 | 0.91606647 |
| 67 | MAP3K8 | 0.91080221 |
| 68 | KDR | 0.90155252 |
| 69 | ATR | 0.89657387 |
| 70 | PLK4 | 0.89397084 |
| 71 | FGFR2 | 0.89340303 |
| 72 | NEK2 | 0.87488846 |
| 73 | CCNB1 | 0.86633425 |
| 74 | AKT3 | 0.86274563 |
| 75 | MAP3K14 | 0.86085140 |
| 76 | MAPK15 | 0.85494934 |
| 77 | ITK | 0.84324821 |
| 78 | ZAK | 0.83554062 |
| 79 | MKNK2 | 0.83203101 |
| 80 | PAK2 | 0.83073249 |
| 81 | SIK3 | 0.81732250 |
| 82 | EEF2K | 0.80575702 |
| 83 | MAP2K3 | 0.80398064 |
| 84 | AURKB | 0.78847432 |
| 85 | IRAK3 | 0.78003123 |
| 86 | KIT | 0.77539485 |
| 87 | BTK | 0.77377694 |
| 88 | ILK | 0.76123396 |
| 89 | NME2 | 0.75693285 |
| 90 | CDK12 | 0.75596432 |
| 91 | TAF1 | 0.74921825 |
| 92 | NTRK1 | 0.74502064 |
| 93 | PRKG2 | 0.73533017 |
| 94 | TESK2 | 0.72275407 |
| 95 | MAPKAPK3 | 0.70926231 |
| 96 | STK39 | 0.70538835 |
| 97 | FGFR4 | 0.70346736 |
| 98 | CHEK2 | 0.69130215 |
| 99 | HIPK2 | 0.68388335 |
| 100 | STK38L | 0.66997674 |
| 101 | SRPK1 | 0.66464420 |
| 102 | BCKDK | 0.66334121 |
| 103 | CDK7 | 0.65465740 |
| 104 | TTN | 0.64860835 |
| 105 | CDK6 | 0.63657211 |
| 106 | TYK2 | 0.63251712 |
| 107 | PTK2 | 0.62772764 |
| 108 | PIM1 | 0.62256444 |
| 109 | PRKCI | 0.60530458 |
| 110 | CHUK | 0.60507084 |
| 111 | CSNK1G1 | 0.60118251 |
| 112 | JAK1 | 0.60084748 |
| 113 | CSF1R | 0.56196038 |
| 114 | BRSK1 | 0.55818916 |
| 115 | IRAK4 | 0.54694797 |
| 116 | LIMK1 | 0.54505778 |
| 117 | PLK1 | 0.54370006 |
| 118 | CSNK1G3 | 0.53151704 |
| 119 | STK16 | 0.52173268 |
| 120 | CSNK1A1L | 0.51023189 |
| 121 | EIF2AK2 | 0.50476076 |
| 122 | TTK | 0.50082153 |
| 123 | ROCK2 | 0.49478663 |
| 124 | ATM | 0.48803169 |
| 125 | CDK8 | 0.48415300 |
| 126 | CDK4 | 0.46817360 |
| 127 | EPHB1 | 0.46543160 |
| 128 | IGF1R | 0.45592006 |
| 129 | FGFR1 | 0.43901735 |
| 130 | FGFR3 | 0.43708797 |
| 131 | STK4 | 0.43563991 |
| 132 | CHEK1 | 0.42982917 |
| 133 | CDK9 | 0.42981459 |
| 134 | MAPKAPK2 | 0.42884570 |
| 135 | PDGFRB | 0.42393308 |
| 136 | MELK | 0.38215410 |
| 137 | WNK3 | 0.38061159 |
| 138 | DAPK1 | 0.37948546 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Protein export_Homo sapiens_hsa03060 | 4.78570556 |
| 2 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 3.90447773 |
| 3 | * Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 3.21764955 |
| 4 | One carbon pool by folate_Homo sapiens_hsa00670 | 2.32086302 |
| 5 | Fatty acid elongation_Homo sapiens_hsa00062 | 2.20266375 |
| 6 | Sulfur metabolism_Homo sapiens_hsa00920 | 2.15800785 |
| 7 | DNA replication_Homo sapiens_hsa03030 | 2.12049755 |
| 8 | * N-Glycan biosynthesis_Homo sapiens_hsa00510 | 2.06659065 |
| 9 | Selenocompound metabolism_Homo sapiens_hsa00450 | 2.05855561 |
| 10 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 2.03359249 |
| 11 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 1.95584486 |
| 12 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 1.88869392 |
| 13 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 1.82864941 |
| 14 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.79755623 |
| 15 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.65814430 |
| 16 | Mismatch repair_Homo sapiens_hsa03430 | 1.60504299 |
| 17 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 1.58320374 |
| 18 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.55797794 |
| 19 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 1.51789611 |
| 20 | Folate biosynthesis_Homo sapiens_hsa00790 | 1.49755058 |
| 21 | Carbon metabolism_Homo sapiens_hsa01200 | 1.48792519 |
| 22 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.47021976 |
| 23 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.46035443 |
| 24 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.43906567 |
| 25 | Other glycan degradation_Homo sapiens_hsa00511 | 1.42182879 |
| 26 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.38107982 |
| 27 | RNA transport_Homo sapiens_hsa03013 | 1.37446809 |
| 28 | Legionellosis_Homo sapiens_hsa05134 | 1.35173784 |
| 29 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.33867315 |
| 30 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.33738722 |
| 31 | Cell cycle_Homo sapiens_hsa04110 | 1.33303090 |
| 32 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 1.33138156 |
| 33 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.31557866 |
| 34 | ECM-receptor interaction_Homo sapiens_hsa04512 | 1.30077170 |
| 35 | Base excision repair_Homo sapiens_hsa03410 | 1.24956581 |
| 36 | Proteasome_Homo sapiens_hsa03050 | 1.24603454 |
| 37 | Lysosome_Homo sapiens_hsa04142 | 1.24252844 |
| 38 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.21218366 |
| 39 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.19930880 |
| 40 | Galactose metabolism_Homo sapiens_hsa00052 | 1.19194216 |
| 41 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.15257627 |
| 42 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 1.14561370 |
| 43 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.10591061 |
| 44 | Spliceosome_Homo sapiens_hsa03040 | 1.08175330 |
| 45 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 1.07758576 |
| 46 | p53 signaling pathway_Homo sapiens_hsa04115 | 1.03458480 |
| 47 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.99286330 |
| 48 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.98975318 |
| 49 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.95138585 |
| 50 | Homologous recombination_Homo sapiens_hsa03440 | 0.94686251 |
| 51 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 0.93772961 |
| 52 | Small cell lung cancer_Homo sapiens_hsa05222 | 0.91970642 |
| 53 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.91094412 |
| 54 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.89895806 |
| 55 | RNA degradation_Homo sapiens_hsa03018 | 0.86447421 |
| 56 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.83330199 |
| 57 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 0.82029674 |
| 58 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.81135786 |
| 59 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.77236971 |
| 60 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.75879501 |
| 61 | Focal adhesion_Homo sapiens_hsa04510 | 0.75626036 |
| 62 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.74780563 |
| 63 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 0.73633837 |
| 64 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.72417426 |
| 65 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 0.72002616 |
| 66 | Bladder cancer_Homo sapiens_hsa05219 | 0.71935287 |
| 67 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 0.69992912 |
| 68 | Malaria_Homo sapiens_hsa05144 | 0.69743895 |
| 69 | Phagosome_Homo sapiens_hsa04145 | 0.69693465 |
| 70 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.69311340 |
| 71 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.69070218 |
| 72 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 0.68881727 |
| 73 | Basal transcription factors_Homo sapiens_hsa03022 | 0.68699449 |
| 74 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.67149529 |
| 75 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.65915856 |
| 76 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.65226549 |
| 77 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.61178538 |
| 78 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 0.60864706 |
| 79 | Measles_Homo sapiens_hsa05162 | 0.60818737 |
| 80 | Thyroid cancer_Homo sapiens_hsa05216 | 0.59267903 |
| 81 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 0.59049801 |
| 82 | RNA polymerase_Homo sapiens_hsa03020 | 0.58929318 |
| 83 | Purine metabolism_Homo sapiens_hsa00230 | 0.58493696 |
| 84 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.58313842 |
| 85 | Prostate cancer_Homo sapiens_hsa05215 | 0.57584262 |
| 86 | Apoptosis_Homo sapiens_hsa04210 | 0.57475182 |
| 87 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.57290841 |
| 88 | * Metabolic pathways_Homo sapiens_hsa01100 | 0.56239791 |
| 89 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.55327242 |
| 90 | Leishmaniasis_Homo sapiens_hsa05140 | 0.54805841 |
| 91 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.54592443 |
| 92 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 0.54184681 |
| 93 | Hepatitis B_Homo sapiens_hsa05161 | 0.53994639 |
| 94 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.53257726 |
| 95 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 0.53196485 |
| 96 | Adherens junction_Homo sapiens_hsa04520 | 0.52806548 |
| 97 | HTLV-I infection_Homo sapiens_hsa05166 | 0.52731527 |
| 98 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.52424469 |
| 99 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.51380520 |
| 100 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.51259269 |
| 101 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.51002063 |
| 102 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.50817987 |
| 103 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.50657992 |
| 104 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.50543529 |
| 105 | Shigellosis_Homo sapiens_hsa05131 | 0.49947720 |
| 106 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.49837267 |
| 107 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.49692955 |
| 108 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.48966256 |
| 109 | Tight junction_Homo sapiens_hsa04530 | 0.48894178 |
| 110 | Histidine metabolism_Homo sapiens_hsa00340 | 0.48702780 |
| 111 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 0.48583483 |
| 112 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 0.48234974 |
| 113 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.47918802 |
| 114 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.46972873 |
| 115 | Lysine degradation_Homo sapiens_hsa00310 | 0.45910932 |
| 116 | Peroxisome_Homo sapiens_hsa04146 | 0.45093998 |
| 117 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 0.44272951 |
| 118 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.43694273 |
| 119 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.43130159 |
| 120 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 0.42850887 |
| 121 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.42282937 |
| 122 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.41987753 |
| 123 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.41522958 |
| 124 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 0.38913043 |
| 125 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.38841034 |
| 126 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.38751035 |
| 127 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.37877692 |
| 128 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.37845226 |
| 129 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.37320861 |
| 130 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.35781691 |
| 131 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.35297992 |
| 132 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.34605266 |
| 133 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.34382412 |
| 134 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.32623940 |
| 135 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.32431446 |

