

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 6.66743095 |
| 2 | ribosomal small subunit biogenesis (GO:0042274) | 6.39293128 |
| 3 | ATP synthesis coupled proton transport (GO:0015986) | 6.30878234 |
| 4 | energy coupled proton transport, down electrochemical gradient (GO:0015985) | 6.30878234 |
| 5 | mitochondrial electron transport, NADH to ubiquinone (GO:0006120) | 6.23090244 |
| 6 | ribosomal small subunit assembly (GO:0000028) | 5.81746474 |
| 7 | viral transcription (GO:0019083) | 5.74252799 |
| 8 | translational termination (GO:0006415) | 5.52718197 |
| 9 | respiratory electron transport chain (GO:0022904) | 5.40112580 |
| 10 | cotranslational protein targeting to membrane (GO:0006613) | 5.31421025 |
| 11 | SRP-dependent cotranslational protein targeting to membrane (GO:0006614) | 5.25717580 |
| 12 | electron transport chain (GO:0022900) | 5.24568652 |
| 13 | protein targeting to ER (GO:0045047) | 5.22970540 |
| 14 | protein localization to endoplasmic reticulum (GO:0070972) | 5.01377504 |
| 15 | establishment of protein localization to endoplasmic reticulum (GO:0072599) | 4.98927640 |
| 16 | protein neddylation (GO:0045116) | 4.73121453 |
| 17 | GTP biosynthetic process (GO:0006183) | 4.53767130 |
| 18 | translational elongation (GO:0006414) | 4.44470585 |
| 19 | central nervous system myelination (GO:0022010) | 4.32078359 |
| 20 | axon ensheathment in central nervous system (GO:0032291) | 4.32078359 |
| 21 | viral life cycle (GO:0019058) | 4.31812169 |
| 22 | mitochondrial respiratory chain complex I assembly (GO:0032981) | 4.29358860 |
| 23 | NADH dehydrogenase complex assembly (GO:0010257) | 4.29358860 |
| 24 | mitochondrial respiratory chain complex I biogenesis (GO:0097031) | 4.29358860 |
| 25 | cellular protein complex disassembly (GO:0043624) | 4.27483488 |
| 26 | proteasome assembly (GO:0043248) | 4.26657264 |
| 27 | maturation of SSU-rRNA (GO:0030490) | 4.23237176 |
| 28 | protein complex biogenesis (GO:0070271) | 4.14318235 |
| 29 | chaperone-mediated protein transport (GO:0072321) | 4.05748528 |
| 30 | ribosomal large subunit biogenesis (GO:0042273) | 3.89129802 |
| 31 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184) | 3.82954887 |
| 32 | termination of RNA polymerase III transcription (GO:0006386) | 3.79433137 |
| 33 | transcription elongation from RNA polymerase III promoter (GO:0006385) | 3.79433137 |
| 34 | UTP biosynthetic process (GO:0006228) | 3.78876639 |
| 35 | oxidative phosphorylation (GO:0006119) | 3.78190619 |
| 36 | translational initiation (GO:0006413) | 3.77383056 |
| 37 | * translation (GO:0006412) | 3.74466059 |
| 38 | establishment of protein localization to mitochondrial membrane (GO:0090151) | 3.73346289 |
| 39 | mitochondrial respiratory chain complex assembly (GO:0033108) | 3.73186721 |
| 40 | DNA deamination (GO:0045006) | 3.65993255 |
| 41 | sequestering of actin monomers (GO:0042989) | 3.56395331 |
| 42 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO: | 3.50665306 |
| 43 | GPI anchor biosynthetic process (GO:0006506) | 3.48742756 |
| 44 | intracellular protein transmembrane import (GO:0044743) | 3.46174534 |
| 45 | protein targeting to membrane (GO:0006612) | 3.45283021 |
| 46 | protein complex disassembly (GO:0043241) | 3.43805356 |
| 47 | rRNA modification (GO:0000154) | 3.40122296 |
| 48 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) | 3.39859479 |
| 49 | RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394) | 3.39731020 |
| 50 | tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) | 3.39731020 |
| 51 | respiratory chain complex IV assembly (GO:0008535) | 3.37303809 |
| 52 | antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590) | 3.36002244 |
| 53 | CTP metabolic process (GO:0046036) | 3.31108594 |
| 54 | CTP biosynthetic process (GO:0006241) | 3.31108594 |
| 55 | mitochondrial transport (GO:0006839) | 3.28946680 |
| 56 | neutrophil activation involved in immune response (GO:0002283) | 3.26891947 |
| 57 | mannosylation (GO:0097502) | 3.25875178 |
| 58 | macromolecular complex disassembly (GO:0032984) | 3.24931178 |
| 59 | purine ribonucleoside triphosphate biosynthetic process (GO:0009206) | 3.24090218 |
| 60 | guanosine-containing compound biosynthetic process (GO:1901070) | 3.22709219 |
| 61 | DNA damage response, detection of DNA damage (GO:0042769) | 3.21151946 |
| 62 | water-soluble vitamin biosynthetic process (GO:0042364) | 3.21109335 |
| 63 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0 | 3.20108682 |
| 64 | UTP metabolic process (GO:0046051) | 3.17293176 |
| 65 | protein targeting to mitochondrion (GO:0006626) | 3.16212702 |
| 66 | purine nucleoside triphosphate biosynthetic process (GO:0009145) | 3.16009801 |
| 67 | regulation of cellular amino acid metabolic process (GO:0006521) | 3.12221568 |
| 68 | cytochrome complex assembly (GO:0017004) | 3.11034177 |
| 69 | aerobic respiration (GO:0009060) | 3.10678117 |
| 70 | nucleoside triphosphate biosynthetic process (GO:0009142) | 3.10513758 |
| 71 | hydrogen ion transmembrane transport (GO:1902600) | 3.09709342 |
| 72 | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436) | 3.08633579 |
| 73 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00 | 3.08567231 |
| 74 | protein-cofactor linkage (GO:0018065) | 3.08078985 |
| 75 | spliceosomal snRNP assembly (GO:0000387) | 3.06772877 |
| 76 | establishment of protein localization to mitochondrion (GO:0072655) | 3.05327831 |
| 77 | purine nucleoside monophosphate biosynthetic process (GO:0009127) | 3.03481615 |
| 78 | purine ribonucleoside monophosphate biosynthetic process (GO:0009168) | 3.03481615 |
| 79 | positive regulation of ubiquitin-protein transferase activity (GO:0051443) | 3.02696191 |
| 80 | establishment of integrated proviral latency (GO:0075713) | 3.02479769 |
| 81 | establishment of viral latency (GO:0019043) | 3.01683207 |
| 82 | fatty acid elongation (GO:0030497) | 3.01219663 |
| 83 | intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400) | 3.00643242 |
| 84 | signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431) | 3.00643242 |
| 85 | signal transduction involved in mitotic cell cycle checkpoint (GO:0072413) | 2.99710723 |
| 86 | signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403) | 2.99710723 |
| 87 | signal transduction involved in mitotic DNA damage checkpoint (GO:1902402) | 2.99710723 |
| 88 | GPI anchor metabolic process (GO:0006505) | 2.98916151 |
| 89 | mRNA catabolic process (GO:0006402) | 2.98447788 |
| 90 | spliceosomal complex assembly (GO:0000245) | 2.98079707 |
| 91 | organelle disassembly (GO:1903008) | 2.97209247 |
| 92 | regulation of mitochondrial translation (GO:0070129) | 2.96161010 |
| 93 | signal peptide processing (GO:0006465) | 2.94310803 |
| 94 | nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291) | 2.93512684 |
| 95 | negative regulation of ubiquitin-protein transferase activity (GO:0051444) | 2.92409529 |
| 96 | negative regulation of ligase activity (GO:0051352) | 2.92409529 |
| 97 | positive regulation of ligase activity (GO:0051351) | 2.89685538 |
| 98 | cullin deneddylation (GO:0010388) | 2.88800113 |
| 99 | ATP biosynthetic process (GO:0006754) | 2.87039671 |
| 100 | pseudouridine synthesis (GO:0001522) | 2.86992051 |
| 101 | L-methionine biosynthetic process from methylthioadenosine (GO:0019509) | 2.86401103 |
| 102 | 7-methylguanosine RNA capping (GO:0009452) | 2.86358092 |
| 103 | RNA capping (GO:0036260) | 2.86358092 |
| 104 | ribonucleoside triphosphate biosynthetic process (GO:0009201) | 2.86237611 |
| 105 | proton transport (GO:0015992) | 2.86212644 |
| 106 | cellular component biogenesis (GO:0044085) | 2.85522675 |
| 107 | signal transduction involved in DNA damage checkpoint (GO:0072422) | 2.84724698 |
| 108 | signal transduction involved in DNA integrity checkpoint (GO:0072401) | 2.84724698 |
| 109 | pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209) | 2.84366137 |
| 110 | 7-methylguanosine mRNA capping (GO:0006370) | 2.83346049 |
| 111 | CENP-A containing nucleosome assembly (GO:0034080) | 2.81128489 |
| 112 | signal transduction involved in cell cycle checkpoint (GO:0072395) | 2.80949285 |
| 113 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 2.80896862 |
| 114 | pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148) | 2.80416578 |
| 115 | preassembly of GPI anchor in ER membrane (GO:0016254) | 2.80308847 |
| 116 | chromatin remodeling at centromere (GO:0031055) | 2.79624700 |
| 117 | hydrogen transport (GO:0006818) | 2.77110261 |
| 118 | nucleoside diphosphate phosphorylation (GO:0006165) | 2.77063750 |
| 119 | ribonucleoprotein complex biogenesis (GO:0022613) | 2.76987653 |
| 120 | nuclear-transcribed mRNA catabolic process (GO:0000956) | 2.76617481 |
| 121 | positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437) | 2.75134446 |
| 122 | peptidyl-histidine modification (GO:0018202) | 2.74037361 |
| 123 | protein localization to mitochondrion (GO:0070585) | 2.72959599 |
| 124 | inner mitochondrial membrane organization (GO:0007007) | 2.72197950 |
| 125 | antigen processing and presentation of peptide antigen via MHC class I (GO:0002474) | 2.68298800 |
| 126 | platelet dense granule organization (GO:0060155) | 2.66597089 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 6.39698069 |
| 2 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 4.61265326 |
| 3 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 4.56507518 |
| 4 | * GABP_17652178_ChIP-ChIP_JURKAT_Human | 4.30408909 |
| 5 | * EST1_17652178_ChIP-ChIP_JURKAT_Human | 3.87432156 |
| 6 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 3.27497802 |
| 7 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 3.25273681 |
| 8 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 3.05902099 |
| 9 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 3.05818687 |
| 10 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 3.05504934 |
| 11 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 2.98243273 |
| 12 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 2.91158810 |
| 13 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 2.90129371 |
| 14 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 2.80276721 |
| 15 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 2.68381076 |
| 16 | ELK1_19687146_ChIP-ChIP_HELA_Human | 2.62692444 |
| 17 | * MYC_18555785_ChIP-Seq_MESCs_Mouse | 2.46100034 |
| 18 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 2.40113467 |
| 19 | SRF_21415370_ChIP-Seq_HL-1_Mouse | 2.36938863 |
| 20 | VDR_23849224_ChIP-Seq_CD4+_Human | 2.29439210 |
| 21 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 2.11974998 |
| 22 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.10352370 |
| 23 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.99856831 |
| 24 | CEBPB_24764292_ChIP-Seq_MC3T3_Mouse | 1.93195580 |
| 25 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.90202613 |
| 26 | * EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 1.86114116 |
| 27 | SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse | 1.82426775 |
| 28 | * HOXB4_20404135_ChIP-ChIP_EML_Mouse | 1.80607020 |
| 29 | VDR_22108803_ChIP-Seq_LS180_Human | 1.77662171 |
| 30 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.76411491 |
| 31 | * PADI4_21655091_ChIP-ChIP_MCF-7_Human | 1.71383773 |
| 32 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 1.70283311 |
| 33 | FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 1.70153494 |
| 34 | * FLI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.69039502 |
| 35 | ELK1_22589737_ChIP-Seq_MCF10A_Human | 1.65096429 |
| 36 | IRF8_21731497_ChIP-ChIP_J774_Mouse | 1.63847224 |
| 37 | FOXP3_21729870_ChIP-Seq_TREG_Human | 1.62855233 |
| 38 | IRF8_22096565_ChIP-ChIP_GC-B_Mouse | 1.62778079 |
| 39 | * MYC_19030024_ChIP-ChIP_MESCs_Mouse | 1.61220924 |
| 40 | * E2F1_18555785_ChIP-Seq_MESCs_Mouse | 1.57673875 |
| 41 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.56783453 |
| 42 | SPI1_22096565_ChIP-ChIP_GC-B_Mouse | 1.56675785 |
| 43 | * ERG_20887958_ChIP-Seq_HPC-7_Mouse | 1.54124949 |
| 44 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.53141358 |
| 45 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.50912246 |
| 46 | XRN2_22483619_ChIP-Seq_HELA_Human | 1.49751441 |
| 47 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.44245662 |
| 48 | POU5F1_18358816_ChIP-ChIP_MESCs_Mouse | 1.42131137 |
| 49 | TAL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.41049835 |
| 50 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 1.37586202 |
| 51 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.37164894 |
| 52 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 1.33969080 |
| 53 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.33484063 |
| 54 | SPI1_23547873_ChIP-Seq_NB4_Human | 1.32478704 |
| 55 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.31434185 |
| 56 | STAT4_19710469_ChIP-ChIP_TH1__Mouse | 1.31206230 |
| 57 | * ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.29881159 |
| 58 | FUS_26573619_Chip-Seq_HEK293_Human | 1.29115134 |
| 59 | LYL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.27911145 |
| 60 | * HNF4A_19761587_ChIP-ChIP_CACO-2_Human | 1.25865107 |
| 61 | P300_19829295_ChIP-Seq_ESCs_Human | 1.24619071 |
| 62 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.23073158 |
| 63 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.21472361 |
| 64 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 1.20361254 |
| 65 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.19672124 |
| 66 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.17109114 |
| 67 | * ASH2L_23239880_ChIP-Seq_MESCs_Mouse | 1.17079544 |
| 68 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.14391494 |
| 69 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.13445845 |
| 70 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 1.11831595 |
| 71 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.10659536 |
| 72 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.09716768 |
| 73 | FOXP3_17237761_ChIP-ChIP_TREG_Mouse | 1.09338044 |
| 74 | NANOG_16153702_ChIP-ChIP_HESCs_Human | 1.06987423 |
| 75 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.05875689 |
| 76 | EWS_26573619_Chip-Seq_HEK293_Human | 1.03017413 |
| 77 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 1.02633354 |
| 78 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.02462526 |
| 79 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 1.02193041 |
| 80 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.01643610 |
| 81 | SOX2_16153702_ChIP-ChIP_HESCs_Human | 1.01498159 |
| 82 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.00270907 |
| 83 | CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human | 0.99904693 |
| 84 | HTT_18923047_ChIP-ChIP_STHdh_Human | 0.99630088 |
| 85 | * GABP_19822575_ChIP-Seq_HepG2_Human | 0.99120285 |
| 86 | SOX2_19829295_ChIP-Seq_ESCs_Human | 0.98340344 |
| 87 | NANOG_19829295_ChIP-Seq_ESCs_Human | 0.98340344 |
| 88 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 0.97933985 |
| 89 | SOX17_20123909_ChIP-Seq_XEN_Mouse | 0.97611792 |
| 90 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 0.95806919 |
| 91 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 0.94812833 |
| 92 | ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 0.92947361 |
| 93 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 0.92643601 |
| 94 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 0.92397884 |
| 95 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 0.92164826 |
| 96 | * AR_20517297_ChIP-Seq_VCAP_Human | 0.90521093 |
| 97 | CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 0.90318056 |
| 98 | SFPI1_20887958_ChIP-Seq_HPC-7_Mouse | 0.90190461 |
| 99 | * FOXA1_25329375_ChIP-Seq_VCAP_Human | 0.90174234 |
| 100 | * FOXA1_27270436_Chip-Seq_PROSTATE_Human | 0.90174234 |
| 101 | SOX2_18555785_ChIP-Seq_MESCs_Mouse | 0.89745233 |
| 102 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 0.88433771 |
| 103 | MECOM_23826213_ChIP-Seq_KASUMI_Mouse | 0.88138369 |
| 104 | STAT1_20625510_ChIP-Seq_HELA_Human | 0.87468497 |
| 105 | PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse | 0.82564068 |
| 106 | FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse | 0.81158016 |
| 107 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 0.80375121 |
| 108 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 0.78363576 |
| 109 | * ERG_20517297_ChIP-Seq_VCAP_Human | 0.77789779 |
| 110 | MEIS1_20887958_ChIP-Seq_HPC-7_Mouse | 0.77461016 |
| 111 | BCL3_23251550_ChIP-Seq_MUSCLE_Mouse | 0.77438641 |
| 112 | IGF1R_20145208_ChIP-Seq_DFB_Human | 0.77055010 |
| 113 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 0.76737200 |
| 114 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 0.76494212 |
| 115 | GFI1B_20887958_ChIP-Seq_HPC-7_Mouse | 0.76385660 |
| 116 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 0.76378561 |
| 117 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 0.75817446 |
| 118 | STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse | 0.75501468 |
| 119 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 0.74932285 |
| 120 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 0.74920180 |
| 121 | NOTCH1_21737748_ChIP-Seq_TLL_Human | 0.74776828 |
| 122 | SALL4_22934838_ChIP-ChIP_CD34+_Human | 0.74757224 |
| 123 | MYB_21317192_ChIP-Seq_ERMYB_Mouse | 0.74699018 |
| 124 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 0.74433082 |
| 125 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 0.74400605 |
| 126 | YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 0.74317641 |
| 127 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 0.74250349 |
| 128 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 0.74248425 |
| 129 | CBP_20019798_ChIP-Seq_JUKART_Human | 0.74248425 |
| 130 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 0.73131724 |
| 131 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 0.72890264 |
| 132 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 0.72775012 |
| 133 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 0.70424081 |
| 134 | SMAD1_18555785_Chip-Seq_ESCs_Mouse | 0.70280076 |
| 135 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 0.69163125 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0009379_abnormal_foot_pigmentation | 4.30778932 |
| 2 | MP0003136_yellow_coat_color | 4.27437606 |
| 3 | MP0004381_abnormal_hair_follicle | 2.94018703 |
| 4 | MP0003724_increased_susceptibility_to | 2.79145214 |
| 5 | MP0001529_abnormal_vocalization | 2.66459812 |
| 6 | MP0002148_abnormal_hypersensitivity_rea | 2.62946420 |
| 7 | MP0009785_altered_susceptibility_to | 2.47127140 |
| 8 | MP0001905_abnormal_dopamine_level | 2.45872097 |
| 9 | MP0000372_irregular_coat_pigmentation | 2.45302775 |
| 10 | MP0005171_absent_coat_pigmentation | 2.34741268 |
| 11 | MP0000920_abnormal_myelination | 2.33560371 |
| 12 | MP0005409_darkened_coat_color | 2.22081341 |
| 13 | MP0001835_abnormal_antigen_presentation | 2.08028106 |
| 14 | MP0003880_abnormal_central_pattern | 1.95548786 |
| 15 | MP0003186_abnormal_redox_activity | 1.94791780 |
| 16 | MP0005671_abnormal_response_to | 1.89076318 |
| 17 | MP0003950_abnormal_plasma_membrane | 1.84578461 |
| 18 | MP0005025_abnormal_response_to | 1.82679181 |
| 19 | MP0001986_abnormal_taste_sensitivity | 1.81906481 |
| 20 | MP0005000_abnormal_immune_tolerance | 1.80263756 |
| 21 | MP0001984_abnormal_olfaction | 1.76825124 |
| 22 | MP0008789_abnormal_olfactory_epithelium | 1.70243305 |
| 23 | MP0001188_hyperpigmentation | 1.68232251 |
| 24 | MP0002419_abnormal_innate_immunity | 1.67215549 |
| 25 | MP0008877_abnormal_DNA_methylation | 1.63237586 |
| 26 | MP0002938_white_spotting | 1.62496868 |
| 27 | MP0010030_abnormal_orbit_morphology | 1.61881786 |
| 28 | MP0005075_abnormal_melanosome_morpholog | 1.59611132 |
| 29 | MP0008057_abnormal_DNA_replication | 1.58159285 |
| 30 | MP0002234_abnormal_pharynx_morphology | 1.57586238 |
| 31 | MP0002163_abnormal_gland_morphology | 1.57006804 |
| 32 | MP0005253_abnormal_eye_physiology | 1.55350010 |
| 33 | MP0002132_abnormal_respiratory_system | 1.52581060 |
| 34 | MP0004142_abnormal_muscle_tone | 1.47270265 |
| 35 | MP0004147_increased_porphyrin_level | 1.46372481 |
| 36 | MP0004215_abnormal_myocardial_fiber | 1.45957183 |
| 37 | MP0005174_abnormal_tail_pigmentation | 1.43284487 |
| 38 | MP0003436_decreased_susceptibility_to | 1.42932848 |
| 39 | MP0005408_hypopigmentation | 1.42420781 |
| 40 | MP0003646_muscle_fatigue | 1.41102253 |
| 41 | MP0006036_abnormal_mitochondrial_physio | 1.40497755 |
| 42 | MP0000631_abnormal_neuroendocrine_gland | 1.40354411 |
| 43 | MP0008995_early_reproductive_senescence | 1.40065736 |
| 44 | MP0005551_abnormal_eye_electrophysiolog | 1.39304252 |
| 45 | MP0001853_heart_inflammation | 1.38538394 |
| 46 | MP0002277_abnormal_respiratory_mucosa | 1.37354139 |
| 47 | MP0002723_abnormal_immune_serum | 1.32747291 |
| 48 | MP0003195_calcinosis | 1.31363110 |
| 49 | MP0008875_abnormal_xenobiotic_pharmacok | 1.31249536 |
| 50 | MP0009333_abnormal_splenocyte_physiolog | 1.29935365 |
| 51 | MP0001293_anophthalmia | 1.29583795 |
| 52 | MP0002420_abnormal_adaptive_immunity | 1.26158276 |
| 53 | MP0005379_endocrine/exocrine_gland_phen | 1.26061954 |
| 54 | MP0006082_CNS_inflammation | 1.25444384 |
| 55 | MP0002822_catalepsy | 1.25053002 |
| 56 | MP0001819_abnormal_immune_cell | 1.23966674 |
| 57 | MP0009046_muscle_twitch | 1.23403524 |
| 58 | MP0001790_abnormal_immune_system | 1.22490313 |
| 59 | MP0005387_immune_system_phenotype | 1.22490313 |
| 60 | MP0000015_abnormal_ear_pigmentation | 1.21600848 |
| 61 | MP0002736_abnormal_nociception_after | 1.21143859 |
| 62 | MP0000685_abnormal_immune_system | 1.21079032 |
| 63 | MP0001851_eye_inflammation | 1.17870103 |
| 64 | MP0002452_abnormal_antigen_presenting | 1.17772917 |
| 65 | MP0000749_muscle_degeneration | 1.16225696 |
| 66 | MP0003718_maternal_effect | 1.15860697 |
| 67 | MP0001542_abnormal_bone_strength | 1.15348179 |
| 68 | MP0000343_altered_response_to | 1.13882960 |
| 69 | MP0002095_abnormal_skin_pigmentation | 1.12678293 |
| 70 | MP0003283_abnormal_digestive_organ | 1.12095880 |
| 71 | MP0006292_abnormal_olfactory_placode | 1.11735741 |
| 72 | MP0002160_abnormal_reproductive_system | 1.11359762 |
| 73 | MP0000465_gastrointestinal_hemorrhage | 1.07867849 |
| 74 | MP0001800_abnormal_humoral_immune | 1.06817467 |
| 75 | MP0001764_abnormal_homeostasis | 1.06058297 |
| 76 | MP0001968_abnormal_touch/_nociception | 1.05587429 |
| 77 | MP0008932_abnormal_embryonic_tissue | 1.05032176 |
| 78 | MP0006035_abnormal_mitochondrial_morpho | 1.04768977 |
| 79 | MP0002405_respiratory_system_inflammati | 1.04409578 |
| 80 | MP0002933_joint_inflammation | 1.04282693 |
| 81 | MP0004742_abnormal_vestibular_system | 1.03762411 |
| 82 | MP0005332_abnormal_amino_acid | 1.03706265 |
| 83 | MP0002272_abnormal_nervous_system | 1.03333908 |
| 84 | MP0003137_abnormal_impulse_conducting | 1.02594069 |
| 85 | MP0002006_tumorigenesis | 1.02420612 |
| 86 | MP0005646_abnormal_pituitary_gland | 1.01976909 |
| 87 | MP0002751_abnormal_autonomic_nervous | 1.01543649 |
| 88 | MP0002282_abnormal_trachea_morphology | 0.99487928 |
| 89 | MP0003786_premature_aging | 0.99036726 |
| 90 | MP0005645_abnormal_hypothalamus_physiol | 0.99028649 |
| 91 | MP0004133_heterotaxia | 0.98379110 |
| 92 | MP0001485_abnormal_pinna_reflex | 0.96855099 |
| 93 | MP0003938_abnormal_ear_development | 0.94060193 |
| 94 | MP0001286_abnormal_eye_development | 0.93927529 |
| 95 | MP0000049_abnormal_middle_ear | 0.93794571 |
| 96 | MP0009745_abnormal_behavioral_response | 0.93647655 |
| 97 | MP0000566_synostosis | 0.93443598 |
| 98 | MP0005389_reproductive_system_phenotype | 0.92873931 |
| 99 | MP0003011_delayed_dark_adaptation | 0.92819470 |
| 100 | MP0003763_abnormal_thymus_physiology | 0.91957285 |
| 101 | MP0005164_abnormal_response_to | 0.91167722 |
| 102 | MP0002009_preneoplasia | 0.90925560 |
| 103 | MP0003567_abnormal_fetal_cardiomyocyte | 0.89318837 |
| 104 | MP0002837_dystrophic_cardiac_calcinosis | 0.88923712 |
| 105 | MP0002233_abnormal_nose_morphology | 0.88396495 |
| 106 | MP0002166_altered_tumor_susceptibility | 0.88318509 |
| 107 | MP0003121_genomic_imprinting | 0.88297132 |
| 108 | MP0005195_abnormal_posterior_eye | 0.87346222 |
| 109 | MP0001727_abnormal_embryo_implantation | 0.86750438 |
| 110 | MP0001346_abnormal_lacrimal_gland | 0.86319526 |
| 111 | MP0008260_abnormal_autophagy | 0.86183642 |
| 112 | MP0008872_abnormal_physiological_respon | 0.85394411 |
| 113 | MP0003315_abnormal_perineum_morphology | 0.84174669 |
| 114 | MP0000716_abnormal_immune_system | 0.83560400 |
| 115 | MP0000026_abnormal_inner_ear | 0.83550459 |
| 116 | MP0005266_abnormal_metabolism | 0.82440422 |
| 117 | MP0002210_abnormal_sex_determination | 0.82321614 |
| 118 | MP0006276_abnormal_autonomic_nervous | 0.81900696 |
| 119 | MP0000383_abnormal_hair_follicle | 0.81788147 |
| 120 | MP0002638_abnormal_pupillary_reflex | 0.81444629 |
| 121 | MP0003806_abnormal_nucleotide_metabolis | 0.81353389 |
| 122 | MP0005391_vision/eye_phenotype | 0.81164661 |
| 123 | MP0005394_taste/olfaction_phenotype | 0.80218431 |
| 124 | MP0005499_abnormal_olfactory_system | 0.80218431 |
| 125 | MP0001533_abnormal_skeleton_physiology | 0.79782131 |
| 126 | MP0000750_abnormal_muscle_regeneration | 0.78430222 |
| 127 | MP0003941_abnormal_skin_development | 0.78071059 |
| 128 | MP0010094_abnormal_chromosome_stability | 0.77775039 |
| 129 | MP0002928_abnormal_bile_duct | 0.76593102 |
| 130 | MP0009250_abnormal_appendicular_skeleto | 0.76323117 |
| 131 | MP0002396_abnormal_hematopoietic_system | 0.75418832 |
| 132 | MP0008058_abnormal_DNA_repair | 0.75413373 |
| 133 | MP0005410_abnormal_fertilization | 0.74876081 |
| 134 | MP0003122_maternal_imprinting | 0.74186980 |
| 135 | MP0003937_abnormal_limbs/digits/tail_de | 0.74051845 |
| 136 | MP0005330_cardiomyopathy | 0.73786784 |
| 137 | MP0000858_altered_metastatic_potential | 0.72696394 |
| 138 | MP0005620_abnormal_muscle_contractility | 0.72684792 |
| 139 | MP0003077_abnormal_cell_cycle | 0.72624596 |
| 140 | MP0001845_abnormal_inflammatory_respons | 0.72283116 |
| 141 | MP0002752_abnormal_somatic_nervous | 0.71345660 |
| 142 | MP0009697_abnormal_copulation | 0.71168755 |
| 143 | MP0006072_abnormal_retinal_apoptosis | 0.70080432 |
| 144 | MP0002102_abnormal_ear_morphology | 0.69953213 |
| 145 | MP0010386_abnormal_urinary_bladder | 0.69347087 |
| 146 | MP0003693_abnormal_embryo_hatching | 0.69326920 |
| 147 | MP0001929_abnormal_gametogenesis | 0.69293144 |
| 148 | MP0008469_abnormal_protein_level | 0.68525244 |
| 149 | MP0004782_abnormal_surfactant_physiolog | 0.67888801 |
| 150 | MP0004085_abnormal_heartbeat | 0.67866022 |
| 151 | MP0008438_abnormal_cutaneous_collagen | 0.67699776 |
| 152 | MP0005423_abnormal_somatic_nervous | 0.67611581 |
| 153 | MP0002876_abnormal_thyroid_physiology | 0.67575119 |
| 154 | MP0002295_abnormal_pulmonary_circulatio | 0.67455470 |
| 155 | MP0002398_abnormal_bone_marrow | 0.66559749 |
| 156 | MP0004957_abnormal_blastocyst_morpholog | 0.66276576 |
| 157 | MP0002429_abnormal_blood_cell | 0.65324889 |
| 158 | MP0004145_abnormal_muscle_electrophysio | 0.64107086 |
| 159 | MP0005084_abnormal_gallbladder_morpholo | 0.62884871 |
| 160 | MP0006054_spinal_hemorrhage | 0.62848319 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Acute necrotizing encephalopathy (HP:0006965) | 5.85905418 |
| 2 | Mitochondrial inheritance (HP:0001427) | 5.46788340 |
| 3 | Abnormality of cells of the erythroid lineage (HP:0012130) | 5.13615283 |
| 4 | Abnormal mitochondria in muscle tissue (HP:0008316) | 5.07002482 |
| 5 | Progressive macrocephaly (HP:0004481) | 4.90282539 |
| 6 | Increased hepatocellular lipid droplets (HP:0006565) | 4.87519829 |
| 7 | Parakeratosis (HP:0001036) | 4.75614983 |
| 8 | Abnormal number of erythroid precursors (HP:0012131) | 4.75248156 |
| 9 | Hepatocellular necrosis (HP:0001404) | 4.70994015 |
| 10 | Renal Fanconi syndrome (HP:0001994) | 4.66433767 |
| 11 | Acute encephalopathy (HP:0006846) | 4.55253560 |
| 12 | Increased CSF lactate (HP:0002490) | 4.50565273 |
| 13 | Lipid accumulation in hepatocytes (HP:0006561) | 4.23909919 |
| 14 | Congenital nonbullous ichthyosiform erythroderma (HP:0007479) | 4.18563395 |
| 15 | Hepatic necrosis (HP:0002605) | 4.11210958 |
| 16 | Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688) | 4.07153993 |
| 17 | Reticulocytopenia (HP:0001896) | 4.01055585 |
| 18 | 3-Methylglutaconic aciduria (HP:0003535) | 3.92112185 |
| 19 | Muscle abnormality related to mitochondrial dysfunction (HP:0003800) | 3.77744585 |
| 20 | Exertional dyspnea (HP:0002875) | 3.65797032 |
| 21 | Macrocytic anemia (HP:0001972) | 3.23640074 |
| 22 | Increased intramyocellular lipid droplets (HP:0012240) | 3.22477668 |
| 23 | Exercise intolerance (HP:0003546) | 3.21268286 |
| 24 | Respiratory failure (HP:0002878) | 3.21249928 |
| 25 | Optic disc pallor (HP:0000543) | 3.04392784 |
| 26 | Abnormality of renal resorption (HP:0011038) | 3.03397132 |
| 27 | Congenital ichthyosiform erythroderma (HP:0007431) | 3.03100297 |
| 28 | Respiratory difficulties (HP:0002880) | 2.99001836 |
| 29 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 2.97883705 |
| 30 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 2.97883705 |
| 31 | Leukodystrophy (HP:0002415) | 2.96897789 |
| 32 | Increased serum lactate (HP:0002151) | 2.91712822 |
| 33 | Cerebral edema (HP:0002181) | 2.88029058 |
| 34 | Pallor (HP:0000980) | 2.84073835 |
| 35 | Recurrent abscess formation (HP:0002722) | 2.81588907 |
| 36 | Methylmalonic acidemia (HP:0002912) | 2.80941352 |
| 37 | Abnormality of glycolysis (HP:0004366) | 2.74179015 |
| 38 | Increased serum pyruvate (HP:0003542) | 2.74179015 |
| 39 | Type I transferrin isoform profile (HP:0003642) | 2.73263324 |
| 40 | Lactic acidosis (HP:0003128) | 2.69105249 |
| 41 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 2.63875333 |
| 42 | Increased muscle lipid content (HP:0009058) | 2.62454030 |
| 43 | Patchy hypopigmentation of hair (HP:0011365) | 2.57981305 |
| 44 | Lethargy (HP:0001254) | 2.54264920 |
| 45 | Pancreatic cysts (HP:0001737) | 2.50832058 |
| 46 | Abnormality of midbrain morphology (HP:0002418) | 2.45903456 |
| 47 | Molar tooth sign on MRI (HP:0002419) | 2.45903456 |
| 48 | Recurrent bacterial skin infections (HP:0005406) | 2.42771691 |
| 49 | Pancreatic fibrosis (HP:0100732) | 2.40773031 |
| 50 | True hermaphroditism (HP:0010459) | 2.40062021 |
| 51 | Abnormality of the axillary hair (HP:0100134) | 2.34917486 |
| 52 | Abnormality of secondary sexual hair (HP:0009888) | 2.34917486 |
| 53 | Amniotic constriction ring (HP:0009775) | 2.29146589 |
| 54 | Abnormality of placental membranes (HP:0011409) | 2.29146589 |
| 55 | Methylmalonic aciduria (HP:0012120) | 2.25954657 |
| 56 | Septo-optic dysplasia (HP:0100842) | 2.21784446 |
| 57 | Generalized aminoaciduria (HP:0002909) | 2.19110239 |
| 58 | Nephronophthisis (HP:0000090) | 2.07094066 |
| 59 | Nemaline bodies (HP:0003798) | 2.04731145 |
| 60 | Obstructive lung disease (HP:0006536) | 2.03119717 |
| 61 | Chronic obstructive pulmonary disease (HP:0006510) | 2.03119717 |
| 62 | Oral leukoplakia (HP:0002745) | 2.02953085 |
| 63 | Muscle fiber inclusion bodies (HP:0100299) | 2.02715760 |
| 64 | Elevated erythrocyte sedimentation rate (HP:0003565) | 2.02478173 |
| 65 | Congenital, generalized hypertrichosis (HP:0004540) | 2.02254218 |
| 66 | Reduced antithrombin III activity (HP:0001976) | 2.01436661 |
| 67 | Glycosuria (HP:0003076) | 1.98450890 |
| 68 | Abnormality of urine glucose concentration (HP:0011016) | 1.98450890 |
| 69 | Abnormality of methionine metabolism (HP:0010901) | 1.96945875 |
| 70 | White forelock (HP:0002211) | 1.95930418 |
| 71 | Abnormality of macrophages (HP:0004311) | 1.93713129 |
| 72 | Hepatosplenomegaly (HP:0001433) | 1.93260193 |
| 73 | Muscle fiber cytoplasmatic inclusion bodies (HP:0100303) | 1.92591690 |
| 74 | Abnormality of the anterior horn cell (HP:0006802) | 1.88120843 |
| 75 | Degeneration of anterior horn cells (HP:0002398) | 1.88120843 |
| 76 | X-linked dominant inheritance (HP:0001423) | 1.85583710 |
| 77 | Abnormal hemoglobin (HP:0011902) | 1.85214432 |
| 78 | Exercise-induced muscle cramps (HP:0003710) | 1.84355707 |
| 79 | Microvesicular hepatic steatosis (HP:0001414) | 1.84309847 |
| 80 | Abnormal protein glycosylation (HP:0012346) | 1.82766157 |
| 81 | Abnormal glycosylation (HP:0012345) | 1.82766157 |
| 82 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 1.82766157 |
| 83 | Abnormal protein N-linked glycosylation (HP:0012347) | 1.82766157 |
| 84 | Congenital primary aphakia (HP:0007707) | 1.81236189 |
| 85 | Abnormality of aspartate family amino acid metabolism (HP:0010899) | 1.80282391 |
| 86 | Hyperglycinemia (HP:0002154) | 1.80261961 |
| 87 | Aplastic anemia (HP:0001915) | 1.79900455 |
| 88 | Poor head control (HP:0002421) | 1.78853906 |
| 89 | Gait imbalance (HP:0002141) | 1.78710847 |
| 90 | Abnormal ciliary motility (HP:0012262) | 1.78546675 |
| 91 | Sclerocornea (HP:0000647) | 1.78514877 |
| 92 | Renal tubular dysfunction (HP:0000124) | 1.78292621 |
| 93 | Petechiae (HP:0000967) | 1.78280675 |
| 94 | Hypothermia (HP:0002045) | 1.77306950 |
| 95 | Purpura (HP:0000979) | 1.77113621 |
| 96 | Cerebral hypomyelination (HP:0006808) | 1.77068282 |
| 97 | Abnormality of alanine metabolism (HP:0010916) | 1.76545096 |
| 98 | Hyperalaninemia (HP:0003348) | 1.76545096 |
| 99 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 1.76545096 |
| 100 | Absent septum pellucidum (HP:0001331) | 1.76159346 |
| 101 | Hyperphosphaturia (HP:0003109) | 1.76131892 |
| 102 | Abnormal respiratory epithelium morphology (HP:0012253) | 1.75803118 |
| 103 | Abnormal respiratory motile cilium morphology (HP:0005938) | 1.75803118 |
| 104 | CNS demyelination (HP:0007305) | 1.75421857 |
| 105 | Abnormality of serum amino acid levels (HP:0003112) | 1.73991699 |
| 106 | Abnormality of dicarboxylic acid metabolism (HP:0010995) | 1.73348220 |
| 107 | Dicarboxylic aciduria (HP:0003215) | 1.73348220 |
| 108 | Male pseudohermaphroditism (HP:0000037) | 1.72753360 |
| 109 | Vacuolated lymphocytes (HP:0001922) | 1.69868859 |
| 110 | Large for gestational age (HP:0001520) | 1.69049967 |
| 111 | Abnormal pupillary function (HP:0007686) | 1.68715368 |
| 112 | Nephrogenic diabetes insipidus (HP:0009806) | 1.68636040 |
| 113 | Aplasia/hypoplasia of the uterus (HP:0008684) | 1.68046699 |
| 114 | Palpitations (HP:0001962) | 1.66803350 |
| 115 | Megaloblastic anemia (HP:0001889) | 1.65275633 |
| 116 | Blindness (HP:0000618) | 1.64926872 |
| 117 | Recurrent skin infections (HP:0001581) | 1.64906458 |
| 118 | Abnormality of vitamin B metabolism (HP:0004340) | 1.64177021 |
| 119 | Duplicated collecting system (HP:0000081) | 1.63614257 |
| 120 | Stomatitis (HP:0010280) | 1.63550368 |
| 121 | Increased IgM level (HP:0003496) | 1.63492111 |
| 122 | Asplenia (HP:0001746) | 1.62575683 |
| 123 | Erythroderma (HP:0001019) | 1.62098642 |
| 124 | Calf muscle hypertrophy (HP:0008981) | 1.61691637 |
| 125 | Abnormality of the renal medulla (HP:0100957) | 1.61118364 |
| 126 | Emotional lability (HP:0000712) | 1.61047363 |
| 127 | Pancytopenia (HP:0001876) | 1.60790755 |
| 128 | Renal cortical cysts (HP:0000803) | 1.60493846 |
| 129 | Hypoglycemic coma (HP:0001325) | 1.60299490 |
| 130 | Retinal dysplasia (HP:0007973) | 1.59190688 |
| 131 | Muscle hypertrophy of the lower extremities (HP:0008968) | 1.58818559 |
| 132 | Partial duplication of thumb phalanx (HP:0009944) | 1.57697934 |
| 133 | Medial flaring of the eyebrow (HP:0010747) | 1.57351595 |
| 134 | Sparse eyelashes (HP:0000653) | 1.56467549 |
| 135 | Sensory axonal neuropathy (HP:0003390) | 1.54383289 |
| 136 | Stenosis of the external auditory canal (HP:0000402) | 1.52891446 |
| 137 | Rough bone trabeculation (HP:0100670) | 1.52479236 |
| 138 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 1.52467372 |
| 139 | Absent/shortened dynein arms (HP:0200106) | 1.52467372 |
| 140 | Abnormal urine phosphate concentration (HP:0012599) | 1.52029362 |
| 141 | Birth length less than 3rd percentile (HP:0003561) | 1.51524697 |
| 142 | Hypoplastic left heart (HP:0004383) | 1.50760320 |
| 143 | Prolonged neonatal jaundice (HP:0006579) | 1.48954667 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | VRK2 | 4.39386424 |
| 2 | STK16 | 3.85221659 |
| 3 | NME2 | 3.19232588 |
| 4 | PBK | 3.18597951 |
| 5 | STK39 | 2.76118687 |
| 6 | MST4 | 2.74228056 |
| 7 | NME1 | 2.38255216 |
| 8 | MUSK | 2.34488918 |
| 9 | PIM2 | 2.25873497 |
| 10 | TNIK | 2.24468303 |
| 11 | VRK1 | 2.21773098 |
| 12 | IRAK4 | 2.19706703 |
| 13 | MAP3K12 | 1.96286731 |
| 14 | MAP4K2 | 1.93907069 |
| 15 | MAPKAPK5 | 1.90879295 |
| 16 | WNK3 | 1.90003651 |
| 17 | MYLK | 1.87650587 |
| 18 | TLK1 | 1.84041758 |
| 19 | BMPR1B | 1.78654511 |
| 20 | EIF2AK3 | 1.74528802 |
| 21 | PHKG2 | 1.68655456 |
| 22 | PHKG1 | 1.68655456 |
| 23 | BUB1 | 1.68240355 |
| 24 | INSRR | 1.67350486 |
| 25 | PINK1 | 1.65042377 |
| 26 | OXSR1 | 1.63991244 |
| 27 | CASK | 1.61178736 |
| 28 | NEK1 | 1.56825227 |
| 29 | BCKDK | 1.56066158 |
| 30 | BLK | 1.55766842 |
| 31 | ZAK | 1.53145605 |
| 32 | TXK | 1.50906339 |
| 33 | CDC7 | 1.48587783 |
| 34 | TEC | 1.47265372 |
| 35 | BCR | 1.45354202 |
| 36 | IRAK3 | 1.44013495 |
| 37 | ADRBK2 | 1.43771686 |
| 38 | PLK3 | 1.38038878 |
| 39 | MKNK1 | 1.29913780 |
| 40 | LIMK1 | 1.28526128 |
| 41 | WEE1 | 1.27572573 |
| 42 | OBSCN | 1.26618031 |
| 43 | FRK | 1.26607987 |
| 44 | SRPK1 | 1.23536123 |
| 45 | GRK7 | 1.22347311 |
| 46 | CDK19 | 1.20187623 |
| 47 | TESK2 | 1.13300338 |
| 48 | ARAF | 1.12808096 |
| 49 | BMPR2 | 1.12706004 |
| 50 | CLK1 | 1.11887425 |
| 51 | MAP3K14 | 1.10701824 |
| 52 | ERBB3 | 1.10212800 |
| 53 | TAF1 | 1.06863814 |
| 54 | PIK3CG | 1.02661286 |
| 55 | EIF2AK1 | 1.01209170 |
| 56 | PDK2 | 0.99120643 |
| 57 | TRIM28 | 0.98162785 |
| 58 | KDR | 0.98104235 |
| 59 | EIF2AK2 | 0.95358048 |
| 60 | CSNK1G2 | 0.93781504 |
| 61 | TRPM7 | 0.92041562 |
| 62 | PASK | 0.91508763 |
| 63 | ABL2 | 0.90993338 |
| 64 | MKNK2 | 0.90929766 |
| 65 | RPS6KA5 | 0.90401004 |
| 66 | PNCK | 0.90264812 |
| 67 | WNK4 | 0.90111889 |
| 68 | RIPK4 | 0.88613241 |
| 69 | EPHB2 | 0.84718285 |
| 70 | BTK | 0.83055318 |
| 71 | STK38L | 0.82759511 |
| 72 | PLK2 | 0.81979027 |
| 73 | PLK1 | 0.81463608 |
| 74 | YES1 | 0.80554908 |
| 75 | MAP2K7 | 0.79010568 |
| 76 | AURKB | 0.78715332 |
| 77 | PKN1 | 0.78003138 |
| 78 | DYRK2 | 0.77805425 |
| 79 | KIT | 0.77773710 |
| 80 | IKBKB | 0.72200265 |
| 81 | CSNK1G3 | 0.71532561 |
| 82 | PLK4 | 0.70059811 |
| 83 | CCNB1 | 0.70049909 |
| 84 | MAP3K4 | 0.69232547 |
| 85 | CSNK1A1L | 0.67962978 |
| 86 | LYN | 0.67683734 |
| 87 | CAMK2B | 0.66920728 |
| 88 | PAK3 | 0.66407320 |
| 89 | TESK1 | 0.66052192 |
| 90 | MST1R | 0.64294781 |
| 91 | MAPK13 | 0.64102141 |
| 92 | ILK | 0.64073111 |
| 93 | CAMK2D | 0.63959768 |
| 94 | EPHB1 | 0.63686991 |
| 95 | ITK | 0.62791374 |
| 96 | PRKCG | 0.60994527 |
| 97 | TSSK6 | 0.59663544 |
| 98 | MAP4K1 | 0.58774184 |
| 99 | SYK | 0.56931505 |
| 100 | NLK | 0.56306095 |
| 101 | DAPK3 | 0.55777927 |
| 102 | LCK | 0.55344589 |
| 103 | FGR | 0.55260504 |
| 104 | PRKCQ | 0.54405421 |
| 105 | IRAK1 | 0.54352332 |
| 106 | NUAK1 | 0.54218301 |
| 107 | TIE1 | 0.53660478 |
| 108 | CHEK2 | 0.52568320 |
| 109 | ROCK2 | 0.52273765 |
| 110 | ADRBK1 | 0.51343136 |
| 111 | IRAK2 | 0.50771864 |
| 112 | CSNK2A1 | 0.50696008 |
| 113 | BRSK2 | 0.50617377 |
| 114 | TTK | 0.49841237 |
| 115 | MAPK4 | 0.49678503 |
| 116 | STK4 | 0.48955081 |
| 117 | TGFBR1 | 0.48157704 |
| 118 | CAMK2A | 0.47963801 |
| 119 | PIK3CA | 0.47936276 |
| 120 | IKBKE | 0.47329174 |
| 121 | PRKACA | 0.46026406 |
| 122 | NEK6 | 0.45626688 |
| 123 | MAPK15 | 0.45169734 |
| 124 | CAMK2G | 0.44370008 |
| 125 | CSNK1G1 | 0.43633408 |
| 126 | MAP3K3 | 0.42900451 |
| 127 | CSNK1A1 | 0.42418671 |
| 128 | GRK5 | 0.41698912 |
| 129 | GRK1 | 0.41251632 |
| 130 | PRKG1 | 0.40453037 |
| 131 | CSNK2A2 | 0.40070650 |
| 132 | AURKA | 0.39701764 |
| 133 | DYRK3 | 0.39071348 |
| 134 | PRKCE | 0.39001846 |
| 135 | PRKACB | 0.38129500 |
| 136 | CDK8 | 0.37384125 |
| 137 | MET | 0.37040742 |
| 138 | CSNK1E | 0.36351374 |
| 139 | CDK3 | 0.36169092 |
| 140 | STK24 | 0.35939461 |
| 141 | UHMK1 | 0.35851399 |
| 142 | MAPKAPK2 | 0.35789073 |
| 143 | MAP2K2 | 0.35742072 |
| 144 | RPS6KB2 | 0.35328785 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | * Ribosome_Homo sapiens_hsa03010 | 5.12000356 |
| 2 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 4.94359508 |
| 3 | Parkinsons disease_Homo sapiens_hsa05012 | 4.18583735 |
| 4 | Proteasome_Homo sapiens_hsa03050 | 3.81471228 |
| 5 | Protein export_Homo sapiens_hsa03060 | 3.49475830 |
| 6 | Alzheimers disease_Homo sapiens_hsa05010 | 3.19563779 |
| 7 | RNA polymerase_Homo sapiens_hsa03020 | 3.07385037 |
| 8 | Huntingtons disease_Homo sapiens_hsa05016 | 3.00445671 |
| 9 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 2.74823219 |
| 10 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 1.91532118 |
| 11 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.87726075 |
| 12 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.86559007 |
| 13 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.79600362 |
| 14 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 1.77858295 |
| 15 | DNA replication_Homo sapiens_hsa03030 | 1.77420364 |
| 16 | Homologous recombination_Homo sapiens_hsa03440 | 1.74370298 |
| 17 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.63481717 |
| 18 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.40869281 |
| 19 | Mismatch repair_Homo sapiens_hsa03430 | 1.40858512 |
| 20 | Steroid biosynthesis_Homo sapiens_hsa00100 | 1.37789831 |
| 21 | Spliceosome_Homo sapiens_hsa03040 | 1.35661360 |
| 22 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.34221550 |
| 23 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 1.32498211 |
| 24 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.31593620 |
| 25 | Asthma_Homo sapiens_hsa05310 | 1.29825970 |
| 26 | Allograft rejection_Homo sapiens_hsa05330 | 1.29779843 |
| 27 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.28500678 |
| 28 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 1.21237795 |
| 29 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 1.15418447 |
| 30 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.12903867 |
| 31 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.12711719 |
| 32 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.09362925 |
| 33 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.09306071 |
| 34 | Purine metabolism_Homo sapiens_hsa00230 | 1.08986363 |
| 35 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.08330271 |
| 36 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 1.04502930 |
| 37 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 1.04458638 |
| 38 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.02785249 |
| 39 | Basal transcription factors_Homo sapiens_hsa03022 | 1.02751158 |
| 40 | Base excision repair_Homo sapiens_hsa03410 | 1.01969225 |
| 41 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.00607662 |
| 42 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.00200395 |
| 43 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.99453508 |
| 44 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.94844313 |
| 45 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.94720903 |
| 46 | RNA degradation_Homo sapiens_hsa03018 | 0.90640957 |
| 47 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.90626805 |
| 48 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.89926786 |
| 49 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.89673632 |
| 50 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.89252184 |
| 51 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.87241117 |
| 52 | Malaria_Homo sapiens_hsa05144 | 0.83690072 |
| 53 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 0.80917611 |
| 54 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 0.80412901 |
| 55 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.78770780 |
| 56 | Phagosome_Homo sapiens_hsa04145 | 0.77464810 |
| 57 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.75035563 |
| 58 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.74664596 |
| 59 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.73248170 |
| 60 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.72829844 |
| 61 | Metabolic pathways_Homo sapiens_hsa01100 | 0.71627791 |
| 62 | Other glycan degradation_Homo sapiens_hsa00511 | 0.71365822 |
| 63 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.69625088 |
| 64 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.68895709 |
| 65 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.65526273 |
| 66 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.64353366 |
| 67 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.63831916 |
| 68 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.63174145 |
| 69 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.62237203 |
| 70 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.59829885 |
| 71 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.58466393 |
| 72 | Pertussis_Homo sapiens_hsa05133 | 0.58273061 |
| 73 | Sulfur relay system_Homo sapiens_hsa04122 | 0.57812152 |
| 74 | Histidine metabolism_Homo sapiens_hsa00340 | 0.57472019 |
| 75 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.56727902 |
| 76 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.55005689 |
| 77 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 0.53415387 |
| 78 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.52673460 |
| 79 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 0.51363473 |
| 80 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 0.50956488 |
| 81 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.50166257 |
| 82 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.49834797 |
| 83 | Leishmaniasis_Homo sapiens_hsa05140 | 0.48918096 |
| 84 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.47513302 |
| 85 | Circadian rhythm_Homo sapiens_hsa04710 | 0.46380984 |
| 86 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.46130625 |
| 87 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.46008652 |
| 88 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.45916959 |
| 89 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.45242556 |
| 90 | Phototransduction_Homo sapiens_hsa04744 | 0.44192491 |
| 91 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.42919955 |
| 92 | Carbon metabolism_Homo sapiens_hsa01200 | 0.42077290 |
| 93 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.41087252 |
| 94 | RNA transport_Homo sapiens_hsa03013 | 0.38748535 |
| 95 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.37929734 |
| 96 | Mineral absorption_Homo sapiens_hsa04978 | 0.37929709 |
| 97 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.37839796 |
| 98 | Measles_Homo sapiens_hsa05162 | 0.37297032 |
| 99 | Nicotine addiction_Homo sapiens_hsa05033 | 0.37191054 |
| 100 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.37024124 |
| 101 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.36892118 |
| 102 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.35735471 |
| 103 | Salmonella infection_Homo sapiens_hsa05132 | 0.35436217 |
| 104 | Legionellosis_Homo sapiens_hsa05134 | 0.35388957 |
| 105 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.35122162 |
| 106 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.34515936 |
| 107 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.34363893 |
| 108 | African trypanosomiasis_Homo sapiens_hsa05143 | 0.32245393 |
| 109 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.31556024 |
| 110 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.30456927 |
| 111 | RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622 | 0.30330602 |
| 112 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.29614331 |
| 113 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 0.29110139 |
| 114 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.28461929 |
| 115 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.26491053 |
| 116 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.26125360 |
| 117 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.24925793 |
| 118 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.24080148 |
| 119 | Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650 | 0.23471996 |
| 120 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.23425558 |
| 121 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.22758596 |
| 122 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.22340190 |
| 123 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.22063159 |
| 124 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.21121212 |
| 125 | Olfactory transduction_Homo sapiens_hsa04740 | 0.20985735 |
| 126 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.20170928 |
| 127 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.20093912 |
| 128 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.19530186 |
| 129 | Lysosome_Homo sapiens_hsa04142 | 0.18788537 |
| 130 | Tuberculosis_Homo sapiens_hsa05152 | 0.18749426 |
| 131 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.18295443 |
| 132 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.17327473 |
| 133 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.15664659 |
| 134 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.15502767 |
| 135 | Shigellosis_Homo sapiens_hsa05131 | 0.13627845 |
| 136 | Cell cycle_Homo sapiens_hsa04110 | 0.13460202 |
| 137 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.12745072 |
| 138 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.10296677 |
| 139 | Peroxisome_Homo sapiens_hsa04146 | 0.09676643 |
| 140 | Retinol metabolism_Homo sapiens_hsa00830 | 0.09214046 |

