

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 6.03011415 |
| 2 | energy coupled proton transport, down electrochemical gradient (GO:0015985) | 5.59140081 |
| 3 | ATP synthesis coupled proton transport (GO:0015986) | 5.59140081 |
| 4 | proteasome assembly (GO:0043248) | 5.22473353 |
| 5 | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436) | 4.92623405 |
| 6 | * cullin deneddylation (GO:0010388) | 4.77077973 |
| 7 | establishment of protein localization to mitochondrial membrane (GO:0090151) | 4.70317017 |
| 8 | regulation of cellular amino acid metabolic process (GO:0006521) | 4.69229163 |
| 9 | positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437) | 4.68533665 |
| 10 | chaperone-mediated protein transport (GO:0072321) | 4.57808578 |
| 11 | negative regulation of ligase activity (GO:0051352) | 4.55340153 |
| 12 | negative regulation of ubiquitin-protein transferase activity (GO:0051444) | 4.55340153 |
| 13 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) | 4.53458691 |
| 14 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0 | 4.47080865 |
| 15 | * protein deneddylation (GO:0000338) | 4.41198958 |
| 16 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00 | 4.33322350 |
| 17 | L-methionine biosynthetic process from methylthioadenosine (GO:0019509) | 4.28884437 |
| 18 | mitochondrial electron transport, NADH to ubiquinone (GO:0006120) | 4.26295506 |
| 19 | signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431) | 4.25615116 |
| 20 | intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400) | 4.25615116 |
| 21 | protein neddylation (GO:0045116) | 4.24302364 |
| 22 | formation of translation preinitiation complex (GO:0001731) | 4.21817426 |
| 23 | signal transduction involved in mitotic DNA damage checkpoint (GO:1902402) | 4.21030979 |
| 24 | signal transduction involved in mitotic cell cycle checkpoint (GO:0072413) | 4.21030979 |
| 25 | signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403) | 4.21030979 |
| 26 | signal transduction involved in DNA integrity checkpoint (GO:0072401) | 4.11590145 |
| 27 | signal transduction involved in DNA damage checkpoint (GO:0072422) | 4.11590145 |
| 28 | positive regulation of ubiquitin-protein transferase activity (GO:0051443) | 4.08403983 |
| 29 | signal transduction involved in cell cycle checkpoint (GO:0072395) | 4.05523926 |
| 30 | respiratory electron transport chain (GO:0022904) | 4.01534767 |
| 31 | electron transport chain (GO:0022900) | 3.94156586 |
| 32 | termination of RNA polymerase III transcription (GO:0006386) | 3.94140518 |
| 33 | transcription elongation from RNA polymerase III promoter (GO:0006385) | 3.94140518 |
| 34 | maturation of SSU-rRNA (GO:0030490) | 3.93515647 |
| 35 | mitochondrial respiratory chain complex I assembly (GO:0032981) | 3.91611597 |
| 36 | NADH dehydrogenase complex assembly (GO:0010257) | 3.91611597 |
| 37 | mitochondrial respiratory chain complex I biogenesis (GO:0097031) | 3.91611597 |
| 38 | positive regulation of ligase activity (GO:0051351) | 3.91537540 |
| 39 | respiratory chain complex IV assembly (GO:0008535) | 3.91509898 |
| 40 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO: | 3.84953055 |
| 41 | ribosomal small subunit biogenesis (GO:0042274) | 3.83417653 |
| 42 | regulation of mitochondrial translation (GO:0070129) | 3.82044036 |
| 43 | 7-methylguanosine mRNA capping (GO:0006370) | 3.79814943 |
| 44 | 7-methylguanosine RNA capping (GO:0009452) | 3.76242417 |
| 45 | RNA capping (GO:0036260) | 3.76242417 |
| 46 | protein complex biogenesis (GO:0070271) | 3.74410169 |
| 47 | establishment of integrated proviral latency (GO:0075713) | 3.72591281 |
| 48 | viral transcription (GO:0019083) | 3.68566524 |
| 49 | translational termination (GO:0006415) | 3.67686626 |
| 50 | amino acid salvage (GO:0043102) | 3.65882849 |
| 51 | L-methionine salvage (GO:0071267) | 3.65882849 |
| 52 | L-methionine biosynthetic process (GO:0071265) | 3.65882849 |
| 53 | mitochondrial respiratory chain complex assembly (GO:0033108) | 3.64684497 |
| 54 | establishment of protein localization to mitochondrion (GO:0072655) | 3.63660066 |
| 55 | ribosomal large subunit biogenesis (GO:0042273) | 3.63638563 |
| 56 | regulation of ubiquitin-protein transferase activity (GO:0051438) | 3.63551731 |
| 57 | protein targeting to mitochondrion (GO:0006626) | 3.59689766 |
| 58 | regulation of cellular amine metabolic process (GO:0033238) | 3.54985086 |
| 59 | spliceosomal snRNP assembly (GO:0000387) | 3.51853071 |
| 60 | regulation of ligase activity (GO:0051340) | 3.51346838 |
| 61 | * translation (GO:0006412) | 3.50661819 |
| 62 | antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590) | 3.50175290 |
| 63 | cytochrome complex assembly (GO:0017004) | 3.48072039 |
| 64 | cotranslational protein targeting to membrane (GO:0006613) | 3.45052422 |
| 65 | GTP biosynthetic process (GO:0006183) | 3.42798228 |
| 66 | SRP-dependent cotranslational protein targeting to membrane (GO:0006614) | 3.42152217 |
| 67 | protein localization to mitochondrion (GO:0070585) | 3.40526377 |
| 68 | * translational initiation (GO:0006413) | 3.40511224 |
| 69 | DNA strand elongation involved in DNA replication (GO:0006271) | 3.40177229 |
| 70 | protein targeting to ER (GO:0045047) | 3.37845763 |
| 71 | translational elongation (GO:0006414) | 3.34830674 |
| 72 | positive regulation of cell cycle arrest (GO:0071158) | 3.34260490 |
| 73 | nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291) | 3.32187767 |
| 74 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 3.30979406 |
| 75 | protein localization to endoplasmic reticulum (GO:0070972) | 3.29360477 |
| 76 | branched-chain amino acid catabolic process (GO:0009083) | 3.29186626 |
| 77 | guanosine-containing compound biosynthetic process (GO:1901070) | 3.28757343 |
| 78 | purine nucleobase biosynthetic process (GO:0009113) | 3.28636473 |
| 79 | DNA damage response, signal transduction by p53 class mediator (GO:0030330) | 3.27259774 |
| 80 | de novo protein folding (GO:0006458) | 3.27028263 |
| 81 | protein-cofactor linkage (GO:0018065) | 3.26343231 |
| 82 | DNA replication checkpoint (GO:0000076) | 3.24298977 |
| 83 | cellular component biogenesis (GO:0044085) | 3.23579707 |
| 84 | ribonucleoprotein complex biogenesis (GO:0022613) | 3.22881024 |
| 85 | peptidyl-histidine modification (GO:0018202) | 3.22496553 |
| 86 | nucleobase biosynthetic process (GO:0046112) | 3.20909826 |
| 87 | establishment of protein localization to endoplasmic reticulum (GO:0072599) | 3.20838221 |
| 88 | G1/S transition of mitotic cell cycle (GO:0000082) | 3.19242510 |
| 89 | cell cycle G1/S phase transition (GO:0044843) | 3.19242510 |
| 90 | DNA strand elongation (GO:0022616) | 3.19186759 |
| 91 | DNA double-strand break processing (GO:0000729) | 3.18609950 |
| 92 | de novo posttranslational protein folding (GO:0051084) | 3.18461620 |
| 93 | DNA replication initiation (GO:0006270) | 3.16862983 |
| 94 | CENP-A containing nucleosome assembly (GO:0034080) | 3.15668989 |
| 95 | DNA deamination (GO:0045006) | 3.15394407 |
| 96 | establishment of viral latency (GO:0019043) | 3.14652266 |
| 97 | cellular protein complex disassembly (GO:0043624) | 3.14008777 |
| 98 | ribosomal small subunit assembly (GO:0000028) | 3.13335182 |
| 99 | oxidative phosphorylation (GO:0006119) | 3.13313541 |
| 100 | rRNA modification (GO:0000154) | 3.12779702 |
| 101 | RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394) | 3.12418277 |
| 102 | tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) | 3.12418277 |
| 103 | UTP biosynthetic process (GO:0006228) | 3.12064861 |
| 104 | spliceosomal complex assembly (GO:0000245) | 3.11683567 |
| 105 | chromatin remodeling at centromere (GO:0031055) | 3.11384407 |
| 106 | transcription elongation from RNA polymerase I promoter (GO:0006362) | 3.09690617 |
| 107 | deoxyribonucleotide biosynthetic process (GO:0009263) | 3.08325080 |
| 108 | ribosome assembly (GO:0042255) | 3.07010687 |
| 109 | water-soluble vitamin biosynthetic process (GO:0042364) | 3.06855970 |
| 110 | rRNA processing (GO:0006364) | 3.05645639 |
| 111 | transcription-coupled nucleotide-excision repair (GO:0006283) | 3.04715871 |
| 112 | deoxyribose phosphate biosynthetic process (GO:0046385) | 3.04512372 |
| 113 | inner mitochondrial membrane organization (GO:0007007) | 2.96620123 |
| 114 | ubiquinone biosynthetic process (GO:0006744) | 2.91302732 |
| 115 | maturation of 5.8S rRNA (GO:0000460) | 2.90967073 |
| 116 | pseudouridine synthesis (GO:0001522) | 2.88626255 |
| 117 | intracellular protein transmembrane import (GO:0044743) | 2.84474677 |
| 118 | purine nucleoside triphosphate biosynthetic process (GO:0009145) | 2.83595786 |
| 119 | replication fork processing (GO:0031297) | 2.82203381 |
| 120 | ATP biosynthetic process (GO:0006754) | 2.81917614 |
| 121 | aerobic respiration (GO:0009060) | 2.81179694 |
| 122 | purine ribonucleoside triphosphate biosynthetic process (GO:0009206) | 2.80702573 |
| 123 | hydrogen ion transmembrane transport (GO:1902600) | 2.79617254 |
| 124 | pyrimidine deoxyribonucleotide catabolic process (GO:0009223) | 2.76860695 |
| 125 | cellular respiration (GO:0045333) | 2.76128286 |
| 126 | regulation of mitotic spindle checkpoint (GO:1903504) | 2.75971014 |
| 127 | regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266) | 2.75971014 |
| 128 | ubiquinone metabolic process (GO:0006743) | 2.75397569 |
| 129 | tRNA processing (GO:0008033) | 2.74525670 |
| 130 | base-excision repair, AP site formation (GO:0006285) | 2.72595101 |
| 131 | tRNA metabolic process (GO:0006399) | 2.71635595 |
| 132 | preassembly of GPI anchor in ER membrane (GO:0016254) | 2.71379422 |
| 133 | rRNA methylation (GO:0031167) | 2.70151634 |
| 134 | organelle disassembly (GO:1903008) | 2.66259772 |
| 135 | DNA catabolic process, exonucleolytic (GO:0000738) | 2.62518655 |
| 136 | mitochondrial RNA metabolic process (GO:0000959) | 2.62508734 |
| 137 | IMP biosynthetic process (GO:0006188) | 2.61354763 |
| 138 | tRNA aminoacylation (GO:0043039) | 2.59972988 |
| 139 | amino acid activation (GO:0043038) | 2.59972988 |
| 140 | proton transport (GO:0015992) | 2.59536552 |
| 141 | cellular ketone body metabolic process (GO:0046950) | 2.58745874 |
| 142 | histone exchange (GO:0043486) | 2.58536934 |
| 143 | histone mRNA metabolic process (GO:0008334) | 2.57355289 |
| 144 | ribonucleoprotein complex disassembly (GO:0032988) | 2.57325419 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 4.93664346 |
| 2 | * GABP_17652178_ChIP-ChIP_JURKAT_Human | 4.46743219 |
| 3 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 4.37326878 |
| 4 | E2F7_22180533_ChIP-Seq_HELA_Human | 4.33363851 |
| 5 | * EST1_17652178_ChIP-ChIP_JURKAT_Human | 4.07730386 |
| 6 | * JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 4.02267543 |
| 7 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 3.75805513 |
| 8 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 3.72915149 |
| 9 | * ETS1_20019798_ChIP-Seq_JURKAT_Human | 3.67619644 |
| 10 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.65214462 |
| 11 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 3.28290943 |
| 12 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 3.26590375 |
| 13 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 3.22759249 |
| 14 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 3.19280066 |
| 15 | * MYC_18358816_ChIP-ChIP_MESCs_Mouse | 3.17070757 |
| 16 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 3.03182650 |
| 17 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 2.92186173 |
| 18 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 2.89154881 |
| 19 | VDR_22108803_ChIP-Seq_LS180_Human | 2.79834688 |
| 20 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 2.72395171 |
| 21 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 2.65913462 |
| 22 | * VDR_23849224_ChIP-Seq_CD4+_Human | 2.50649918 |
| 23 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 2.49261217 |
| 24 | XRN2_22483619_ChIP-Seq_HELA_Human | 2.49160069 |
| 25 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 2.45681476 |
| 26 | DCP1A_22483619_ChIP-Seq_HELA_Human | 2.43166413 |
| 27 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 2.42695357 |
| 28 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.42255339 |
| 29 | E2F1_18555785_ChIP-Seq_MESCs_Mouse | 2.37805129 |
| 30 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 2.35000403 |
| 31 | IGF1R_20145208_ChIP-Seq_DFB_Human | 2.33598432 |
| 32 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 2.20091597 |
| 33 | SRF_21415370_ChIP-Seq_HL-1_Mouse | 2.16539896 |
| 34 | ELK1_19687146_ChIP-ChIP_HELA_Human | 2.12223152 |
| 35 | GABP_19822575_ChIP-Seq_HepG2_Human | 2.11880632 |
| 36 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 2.07900916 |
| 37 | * FOXP3_21729870_ChIP-Seq_TREG_Human | 2.07553165 |
| 38 | TTF2_22483619_ChIP-Seq_HELA_Human | 2.05747971 |
| 39 | * FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.02457664 |
| 40 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 1.99611195 |
| 41 | * ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.99572570 |
| 42 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.92788053 |
| 43 | EWS_26573619_Chip-Seq_HEK293_Human | 1.91808223 |
| 44 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.83783754 |
| 45 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.81270975 |
| 46 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 1.79104891 |
| 47 | * FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 1.77014657 |
| 48 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.75002549 |
| 49 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.70915237 |
| 50 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.70908507 |
| 51 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.63325583 |
| 52 | * MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.61952722 |
| 53 | * YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.61821359 |
| 54 | ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.55382657 |
| 55 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.52497618 |
| 56 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.51963481 |
| 57 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.50198660 |
| 58 | * HOXB4_20404135_ChIP-ChIP_EML_Mouse | 1.47681110 |
| 59 | * PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.45547695 |
| 60 | POU5F1_18358816_ChIP-ChIP_MESCs_Mouse | 1.44617958 |
| 61 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.42074172 |
| 62 | ELK1_22589737_ChIP-Seq_MCF10A_Human | 1.40281314 |
| 63 | PADI4_21655091_ChIP-ChIP_MCF-7_Human | 1.35320712 |
| 64 | NOTCH1_21737748_ChIP-Seq_TLL_Human | 1.34747504 |
| 65 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.30988396 |
| 66 | * CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 1.28080145 |
| 67 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.27806631 |
| 68 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.27217147 |
| 69 | NANOG_18555785_ChIP-Seq_MESCs_Mouse | 1.27135594 |
| 70 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 1.26951596 |
| 71 | P300_19829295_ChIP-Seq_ESCs_Human | 1.24885320 |
| 72 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.24022657 |
| 73 | CEBPB_24764292_ChIP-Seq_MC3T3_Mouse | 1.21666026 |
| 74 | ASH2L_23239880_ChIP-Seq_MESCs_Mouse | 1.21521178 |
| 75 | * BCL3_23251550_ChIP-Seq_MUSCLE_Mouse | 1.19650834 |
| 76 | KLF4_19030024_ChIP-ChIP_MESCs_Mouse | 1.19107698 |
| 77 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.17340392 |
| 78 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.12876730 |
| 79 | * CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human | 1.12667335 |
| 80 | TAL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.12025687 |
| 81 | * SOX17_20123909_ChIP-Seq_XEN_Mouse | 1.10933197 |
| 82 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.10072239 |
| 83 | KDM5A_27292631_Chip-Seq_BREAST_Human | 1.09296071 |
| 84 | SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse | 1.08524236 |
| 85 | ERG_20887958_ChIP-Seq_HPC-7_Mouse | 1.07105329 |
| 86 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.06176512 |
| 87 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 1.05641778 |
| 88 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.03859799 |
| 89 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 1.03517035 |
| 90 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.03021267 |
| 91 | HTT_18923047_ChIP-ChIP_STHdh_Human | 1.00639003 |
| 92 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.00611812 |
| 93 | FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse | 0.99379130 |
| 94 | SOX2_18555785_ChIP-Seq_MESCs_Mouse | 0.98800632 |
| 95 | E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human | 0.98738525 |
| 96 | ER_23166858_ChIP-Seq_MCF-7_Human | 0.98144587 |
| 97 | FLI1_20887958_ChIP-Seq_HPC-7_Mouse | 0.97849888 |
| 98 | CNOT3_19339689_ChIP-ChIP_MESCs_Mouse | 0.97028659 |
| 99 | SOX2_19829295_ChIP-Seq_ESCs_Human | 0.97000451 |
| 100 | NANOG_19829295_ChIP-Seq_ESCs_Human | 0.97000451 |
| 101 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 0.96928425 |
| 102 | SIN3A_21632747_ChIP-Seq_MESCs_Mouse | 0.94110270 |
| 103 | SOX2_16153702_ChIP-ChIP_HESCs_Human | 0.93885067 |
| 104 | NANOG_16153702_ChIP-ChIP_HESCs_Human | 0.92792799 |
| 105 | CBP_20019798_ChIP-Seq_JUKART_Human | 0.91707151 |
| 106 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 0.91707151 |
| 107 | * KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 0.91344678 |
| 108 | CIITA_25753668_ChIP-Seq_RAJI_Human | 0.90860320 |
| 109 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 0.88874437 |
| 110 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 0.87904735 |
| 111 | * CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 0.87495022 |
| 112 | * EZH2_27294783_Chip-Seq_NPCs_Mouse | 0.87371603 |
| 113 | ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 0.87321488 |
| 114 | AR_20517297_ChIP-Seq_VCAP_Human | 0.87100940 |
| 115 | * SUZ12_27294783_Chip-Seq_NPCs_Mouse | 0.86941877 |
| 116 | * NFE2_27457419_Chip-Seq_LIVER_Mouse | 0.86416521 |
| 117 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 0.86278697 |
| 118 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 0.86278697 |
| 119 | CTCF_18555785_ChIP-Seq_MESCs_Mouse | 0.85168851 |
| 120 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 0.84518567 |
| 121 | KLF4_18555785_ChIP-Seq_MESCs_Mouse | 0.83773322 |
| 122 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 0.83568176 |
| 123 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 0.83321840 |
| 124 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 0.82500064 |
| 125 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 0.81864681 |
| 126 | TFEB_21752829_ChIP-Seq_HELA_Human | 0.80737550 |
| 127 | * TRIM28_19339689_ChIP-ChIP_MESCs_Mouse | 0.79059948 |
| 128 | CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse | 0.78606572 |
| 129 | * SOX2_18692474_ChIP-Seq_MEFs_Mouse | 0.77377059 |
| 130 | * OCT4_18692474_ChIP-Seq_MEFs_Mouse | 0.76718297 |
| 131 | TBX5_21415370_ChIP-Seq_HL-1_Mouse | 0.76575400 |
| 132 | SOX2_19030024_ChIP-ChIP_MESCs_Mouse | 0.75941266 |
| 133 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 0.75814888 |
| 134 | FUS_26573619_Chip-Seq_HEK293_Human | 0.73614272 |
| 135 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 0.71671301 |
| 136 | HNF4A_19761587_ChIP-ChIP_CACO-2_Human | 0.70821004 |
| 137 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 0.69846457 |
| 138 | * REST_19997604_ChIP-ChIP_NEURONS_Mouse | 0.69491333 |
| 139 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.69489868 |
| 140 | CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 0.69267806 |
| 141 | * KLF4_18358816_ChIP-ChIP_MESCs_Mouse | 0.68688555 |
| 142 | SFPI1_20887958_ChIP-Seq_HPC-7_Mouse | 0.68313240 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003693_abnormal_embryo_hatching | 4.31704976 |
| 2 | MP0003806_abnormal_nucleotide_metabolis | 4.12795051 |
| 3 | MP0001529_abnormal_vocalization | 3.93463099 |
| 4 | * MP0004957_abnormal_blastocyst_morpholog | 3.58055617 |
| 5 | * MP0008932_abnormal_embryonic_tissue | 2.96256912 |
| 6 | * MP0010094_abnormal_chromosome_stability | 2.63804383 |
| 7 | MP0008057_abnormal_DNA_replication | 2.62409417 |
| 8 | * MP0003077_abnormal_cell_cycle | 2.54546155 |
| 9 | MP0001905_abnormal_dopamine_level | 2.51829850 |
| 10 | MP0003111_abnormal_nucleus_morphology | 2.46286508 |
| 11 | MP0009379_abnormal_foot_pigmentation | 2.40397083 |
| 12 | MP0006036_abnormal_mitochondrial_physio | 2.30800894 |
| 13 | MP0009697_abnormal_copulation | 2.18202289 |
| 14 | * MP0008058_abnormal_DNA_repair | 2.09858477 |
| 15 | MP0006276_abnormal_autonomic_nervous | 2.08621923 |
| 16 | MP0006035_abnormal_mitochondrial_morpho | 2.06903947 |
| 17 | MP0003123_paternal_imprinting | 2.04286587 |
| 18 | MP0003718_maternal_effect | 1.99994607 |
| 19 | MP0003186_abnormal_redox_activity | 1.98738297 |
| 20 | MP0006072_abnormal_retinal_apoptosis | 1.95079710 |
| 21 | MP0002837_dystrophic_cardiac_calcinosis | 1.93073961 |
| 22 | MP0005410_abnormal_fertilization | 1.91299666 |
| 23 | MP0003315_abnormal_perineum_morphology | 1.90992534 |
| 24 | MP0004215_abnormal_myocardial_fiber | 1.90602781 |
| 25 | MP0000372_irregular_coat_pigmentation | 1.77178073 |
| 26 | * MP0001730_embryonic_growth_arrest | 1.76208745 |
| 27 | MP0000537_abnormal_urethra_morphology | 1.76159374 |
| 28 | MP0003122_maternal_imprinting | 1.68561120 |
| 29 | MP0001984_abnormal_olfaction | 1.63020029 |
| 30 | MP0002751_abnormal_autonomic_nervous | 1.62584043 |
| 31 | MP0008877_abnormal_DNA_methylation | 1.61979677 |
| 32 | MP0005551_abnormal_eye_electrophysiolog | 1.59296141 |
| 33 | MP0005075_abnormal_melanosome_morpholog | 1.57553830 |
| 34 | MP0003880_abnormal_central_pattern | 1.56310295 |
| 35 | MP0002160_abnormal_reproductive_system | 1.52042860 |
| 36 | MP0004142_abnormal_muscle_tone | 1.51848936 |
| 37 | MP0002822_catalepsy | 1.49612159 |
| 38 | MP0004147_increased_porphyrin_level | 1.48141573 |
| 39 | MP0005084_abnormal_gallbladder_morpholo | 1.47358382 |
| 40 | MP0005253_abnormal_eye_physiology | 1.46524376 |
| 41 | MP0009046_muscle_twitch | 1.46056758 |
| 42 | MP0000358_abnormal_cell_content/ | 1.45926075 |
| 43 | MP0002102_abnormal_ear_morphology | 1.43943896 |
| 44 | MP0002638_abnormal_pupillary_reflex | 1.42759655 |
| 45 | MP0002234_abnormal_pharynx_morphology | 1.40169150 |
| 46 | MP0010030_abnormal_orbit_morphology | 1.39932030 |
| 47 | MP0006292_abnormal_olfactory_placode | 1.37527267 |
| 48 | MP0003195_calcinosis | 1.30675344 |
| 49 | MP0003656_abnormal_erythrocyte_physiolo | 1.30523997 |
| 50 | MP0001727_abnormal_embryo_implantation | 1.29020574 |
| 51 | MP0008260_abnormal_autophagy | 1.27337328 |
| 52 | MP0008007_abnormal_cellular_replicative | 1.26894623 |
| 53 | MP0003787_abnormal_imprinting | 1.25365942 |
| 54 | MP0003786_premature_aging | 1.25110138 |
| 55 | MP0002210_abnormal_sex_determination | 1.24222895 |
| 56 | MP0001986_abnormal_taste_sensitivity | 1.21573575 |
| 57 | MP0005499_abnormal_olfactory_system | 1.21105975 |
| 58 | MP0005394_taste/olfaction_phenotype | 1.21105975 |
| 59 | MP0002938_white_spotting | 1.19507505 |
| 60 | MP0001929_abnormal_gametogenesis | 1.18365989 |
| 61 | MP0008875_abnormal_xenobiotic_pharmacok | 1.17473879 |
| 62 | MP0004145_abnormal_muscle_electrophysio | 1.17447137 |
| 63 | MP0002272_abnormal_nervous_system | 1.17196308 |
| 64 | MP0008775_abnormal_heart_ventricle | 1.16828720 |
| 65 | MP0002163_abnormal_gland_morphology | 1.16290456 |
| 66 | * MP0000350_abnormal_cell_proliferation | 1.15762953 |
| 67 | MP0008872_abnormal_physiological_respon | 1.15489774 |
| 68 | MP0003221_abnormal_cardiomyocyte_apopto | 1.15254757 |
| 69 | MP0008789_abnormal_olfactory_epithelium | 1.14488553 |
| 70 | MP0003136_yellow_coat_color | 1.14312128 |
| 71 | MP0000749_muscle_degeneration | 1.13159147 |
| 72 | MP0000747_muscle_weakness | 1.11677490 |
| 73 | MP0002095_abnormal_skin_pigmentation | 1.10016314 |
| 74 | * MP0001697_abnormal_embryo_size | 1.09625698 |
| 75 | MP0001145_abnormal_male_reproductive | 1.09312498 |
| 76 | MP0000427_abnormal_hair_cycle | 1.08544038 |
| 77 | MP0003567_abnormal_fetal_cardiomyocyte | 1.07051370 |
| 78 | MP0001188_hyperpigmentation | 1.05332015 |
| 79 | MP0008961_abnormal_basal_metabolism | 1.04699412 |
| 80 | MP0008995_early_reproductive_senescence | 1.04689637 |
| 81 | MP0001542_abnormal_bone_strength | 1.03950723 |
| 82 | MP0003698_abnormal_male_reproductive | 1.02470729 |
| 83 | * MP0002080_prenatal_lethality | 1.01598780 |
| 84 | MP0002282_abnormal_trachea_morphology | 1.00955885 |
| 85 | MP0009745_abnormal_behavioral_response | 1.00916867 |
| 86 | MP0003119_abnormal_digestive_system | 1.00763601 |
| 87 | MP0001485_abnormal_pinna_reflex | 0.99256398 |
| 88 | MP0003950_abnormal_plasma_membrane | 0.98855168 |
| 89 | MP0003937_abnormal_limbs/digits/tail_de | 0.98825447 |
| 90 | MP0003121_genomic_imprinting | 0.97937087 |
| 91 | MP0004133_heterotaxia | 0.96088519 |
| 92 | MP0000631_abnormal_neuroendocrine_gland | 0.95574606 |
| 93 | MP0002736_abnormal_nociception_after | 0.95401041 |
| 94 | MP0005174_abnormal_tail_pigmentation | 0.94430470 |
| 95 | MP0005266_abnormal_metabolism | 0.93265221 |
| 96 | MP0005332_abnormal_amino_acid | 0.92867428 |
| 97 | MP0002653_abnormal_ependyma_morphology | 0.92863580 |
| 98 | MP0002734_abnormal_mechanical_nocicepti | 0.91260805 |
| 99 | MP0005379_endocrine/exocrine_gland_phen | 0.89936008 |
| 100 | MP0003890_abnormal_embryonic-extraembry | 0.88271850 |
| 101 | MP0000653_abnormal_sex_gland | 0.87883894 |
| 102 | MP0005408_hypopigmentation | 0.87689360 |
| 103 | MP0005389_reproductive_system_phenotype | 0.87055667 |
| 104 | * MP0002085_abnormal_embryonic_tissue | 0.87041431 |
| 105 | MP0003137_abnormal_impulse_conducting | 0.86801296 |
| 106 | MP0000647_abnormal_sebaceous_gland | 0.83645156 |
| 107 | MP0001919_abnormal_reproductive_system | 0.82252149 |
| 108 | MP0000750_abnormal_muscle_regeneration | 0.81378185 |
| 109 | MP0002735_abnormal_chemical_nociception | 0.80978375 |
| 110 | MP0001968_abnormal_touch/_nociception | 0.80654219 |
| 111 | MP0004270_analgesia | 0.80612174 |
| 112 | MP0001764_abnormal_homeostasis | 0.80098345 |
| 113 | MP0001293_anophthalmia | 0.79854286 |
| 114 | * MP0000313_abnormal_cell_death | 0.78865203 |
| 115 | MP0005451_abnormal_body_composition | 0.78658986 |
| 116 | MP0002090_abnormal_vision | 0.77718584 |
| 117 | MP0000049_abnormal_middle_ear | 0.77679493 |
| 118 | MP0005187_abnormal_penis_morphology | 0.77522994 |
| 119 | MP0010386_abnormal_urinary_bladder | 0.77366186 |
| 120 | MP0004885_abnormal_endolymph | 0.75701881 |
| 121 | * MP0001672_abnormal_embryogenesis/_devel | 0.74763120 |
| 122 | * MP0005380_embryogenesis_phenotype | 0.74763120 |
| 123 | MP0003011_delayed_dark_adaptation | 0.74657663 |
| 124 | MP0009250_abnormal_appendicular_skeleto | 0.74652450 |
| 125 | MP0003942_abnormal_urinary_system | 0.74317549 |
| 126 | MP0003938_abnormal_ear_development | 0.72641331 |
| 127 | MP0002277_abnormal_respiratory_mucosa | 0.71905936 |
| 128 | MP0002269_muscular_atrophy | 0.71415431 |
| 129 | MP0002733_abnormal_thermal_nociception | 0.71216727 |
| 130 | MP0002876_abnormal_thyroid_physiology | 0.69507246 |
| 131 | MP0005646_abnormal_pituitary_gland | 0.68225876 |
| 132 | MP0002161_abnormal_fertility/fecundity | 0.68161844 |
| 133 | MP0005195_abnormal_posterior_eye | 0.67353359 |
| 134 | MP0000762_abnormal_tongue_morphology | 0.67130850 |
| 135 | MP0003252_abnormal_bile_duct | 0.66841774 |
| 136 | MP0001440_abnormal_grooming_behavior | 0.65781960 |
| 137 | * MP0002084_abnormal_developmental_patter | 0.65252837 |
| 138 | * MP0003984_embryonic_growth_retardation | 0.64630745 |
| 139 | MP0000751_myopathy | 0.63747404 |
| 140 | MP0005376_homeostasis/metabolism_phenot | 0.63564756 |
| 141 | MP0004134_abnormal_chest_morphology | 0.62842197 |
| 142 | MP0003646_muscle_fatigue | 0.62091056 |
| 143 | MP0005636_abnormal_mineral_homeostasis | 0.60165241 |
| 144 | * MP0002088_abnormal_embryonic_growth/wei | 0.60161393 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Acute necrotizing encephalopathy (HP:0006965) | 5.92540296 |
| 2 | Increased serum pyruvate (HP:0003542) | 5.38519619 |
| 3 | Abnormality of glycolysis (HP:0004366) | 5.38519619 |
| 4 | Abnormal mitochondria in muscle tissue (HP:0008316) | 5.33413508 |
| 5 | Mitochondrial inheritance (HP:0001427) | 5.03726681 |
| 6 | Progressive macrocephaly (HP:0004481) | 4.77088184 |
| 7 | Acute encephalopathy (HP:0006846) | 4.70400687 |
| 8 | Increased CSF lactate (HP:0002490) | 4.56397464 |
| 9 | Hepatocellular necrosis (HP:0001404) | 4.43973539 |
| 10 | Cerebral hypomyelination (HP:0006808) | 4.37002078 |
| 11 | Increased hepatocellular lipid droplets (HP:0006565) | 3.95294220 |
| 12 | Hepatic necrosis (HP:0002605) | 3.89902199 |
| 13 | Lipid accumulation in hepatocytes (HP:0006561) | 3.63134240 |
| 14 | Birth length less than 3rd percentile (HP:0003561) | 3.48836431 |
| 15 | Cerebral edema (HP:0002181) | 3.48609907 |
| 16 | Increased serum lactate (HP:0002151) | 3.36266397 |
| 17 | Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688) | 3.35897088 |
| 18 | Abnormality of cells of the erythroid lineage (HP:0012130) | 3.34269747 |
| 19 | Leukodystrophy (HP:0002415) | 3.24699656 |
| 20 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 3.23862260 |
| 21 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 3.23862260 |
| 22 | Exercise intolerance (HP:0003546) | 3.22177916 |
| 23 | Respiratory failure (HP:0002878) | 3.10204985 |
| 24 | Lactic acidosis (HP:0003128) | 3.08251888 |
| 25 | 3-Methylglutaconic aciduria (HP:0003535) | 3.05134858 |
| 26 | Breast hypoplasia (HP:0003187) | 3.01956095 |
| 27 | Abnormal number of erythroid precursors (HP:0012131) | 3.00189489 |
| 28 | Renal Fanconi syndrome (HP:0001994) | 2.92314341 |
| 29 | Muscle abnormality related to mitochondrial dysfunction (HP:0003800) | 2.88811615 |
| 30 | Optic disc pallor (HP:0000543) | 2.86027438 |
| 31 | Irregular epiphyses (HP:0010582) | 2.83058656 |
| 32 | Increased intramyocellular lipid droplets (HP:0012240) | 2.82037871 |
| 33 | Pancreatic cysts (HP:0001737) | 2.79265832 |
| 34 | Congenital nonbullous ichthyosiform erythroderma (HP:0007479) | 2.75527954 |
| 35 | CNS demyelination (HP:0007305) | 2.71752223 |
| 36 | Emotional lability (HP:0000712) | 2.69539820 |
| 37 | Exertional dyspnea (HP:0002875) | 2.67385469 |
| 38 | Macrocytic anemia (HP:0001972) | 2.62326607 |
| 39 | Molar tooth sign on MRI (HP:0002419) | 2.57622336 |
| 40 | Abnormality of midbrain morphology (HP:0002418) | 2.57622336 |
| 41 | Methylmalonic acidemia (HP:0002912) | 2.54259460 |
| 42 | Neuroendocrine neoplasm (HP:0100634) | 2.51444345 |
| 43 | Carpal bone hypoplasia (HP:0001498) | 2.51258652 |
| 44 | Oral leukoplakia (HP:0002745) | 2.50738629 |
| 45 | Reticulocytopenia (HP:0001896) | 2.50668213 |
| 46 | Pancreatic fibrosis (HP:0100732) | 2.45608130 |
| 47 | CNS hypomyelination (HP:0003429) | 2.44523725 |
| 48 | True hermaphroditism (HP:0010459) | 2.43716745 |
| 49 | Delusions (HP:0000746) | 2.43513108 |
| 50 | Microvesicular hepatic steatosis (HP:0001414) | 2.39373202 |
| 51 | Abnormality of the labia minora (HP:0012880) | 2.37900804 |
| 52 | Methylmalonic aciduria (HP:0012120) | 2.37647317 |
| 53 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 2.35298614 |
| 54 | Abnormality of alanine metabolism (HP:0010916) | 2.35298614 |
| 55 | Hyperalaninemia (HP:0003348) | 2.35298614 |
| 56 | Abnormality of serum amino acid levels (HP:0003112) | 2.34816291 |
| 57 | Increased muscle lipid content (HP:0009058) | 2.32017566 |
| 58 | Colon cancer (HP:0003003) | 2.31872793 |
| 59 | Postnatal microcephaly (HP:0005484) | 2.29548232 |
| 60 | Rough bone trabeculation (HP:0100670) | 2.27911094 |
| 61 | Congenital primary aphakia (HP:0007707) | 2.26921687 |
| 62 | Gait imbalance (HP:0002141) | 2.25989841 |
| 63 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 2.21895797 |
| 64 | Pheochromocytoma (HP:0002666) | 2.21345069 |
| 65 | Autoamputation (HP:0001218) | 2.20761726 |
| 66 | Secondary amenorrhea (HP:0000869) | 2.19596325 |
| 67 | Abnormality of the anterior horn cell (HP:0006802) | 2.18466128 |
| 68 | Degeneration of anterior horn cells (HP:0002398) | 2.18466128 |
| 69 | Respiratory difficulties (HP:0002880) | 2.17400762 |
| 70 | Aplastic anemia (HP:0001915) | 2.16557510 |
| 71 | Hypothermia (HP:0002045) | 2.13699913 |
| 72 | Abnormality of placental membranes (HP:0011409) | 2.13549232 |
| 73 | Amniotic constriction ring (HP:0009775) | 2.13549232 |
| 74 | Abnormal protein glycosylation (HP:0012346) | 2.09944194 |
| 75 | Abnormal glycosylation (HP:0012345) | 2.09944194 |
| 76 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 2.09944194 |
| 77 | Abnormal protein N-linked glycosylation (HP:0012347) | 2.09944194 |
| 78 | Nephronophthisis (HP:0000090) | 2.09129407 |
| 79 | Type I transferrin isoform profile (HP:0003642) | 2.08685669 |
| 80 | Hyperglycinuria (HP:0003108) | 2.08652209 |
| 81 | Renal cortical cysts (HP:0000803) | 2.07563425 |
| 82 | Hyperglycinemia (HP:0002154) | 2.06784196 |
| 83 | Unsteady gait (HP:0002317) | 2.06306912 |
| 84 | Nemaline bodies (HP:0003798) | 2.05680480 |
| 85 | Meckel diverticulum (HP:0002245) | 2.04772208 |
| 86 | Nephrogenic diabetes insipidus (HP:0009806) | 2.01920411 |
| 87 | Spastic paraparesis (HP:0002313) | 2.01111171 |
| 88 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 2.00082022 |
| 89 | Congenital ichthyosiform erythroderma (HP:0007431) | 1.99615686 |
| 90 | Type 2 muscle fiber atrophy (HP:0003554) | 1.99010865 |
| 91 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.96845381 |
| 92 | Abnormality of urine glucose concentration (HP:0011016) | 1.95959708 |
| 93 | Glycosuria (HP:0003076) | 1.95959708 |
| 94 | Premature ovarian failure (HP:0008209) | 1.95321030 |
| 95 | Lethargy (HP:0001254) | 1.95319151 |
| 96 | Stenosis of the external auditory canal (HP:0000402) | 1.95203715 |
| 97 | Abnormality of the renal cortex (HP:0011035) | 1.94655886 |
| 98 | Pallor (HP:0000980) | 1.94093629 |
| 99 | Abnormality of the ileum (HP:0001549) | 1.92893606 |
| 100 | Congenital, generalized hypertrichosis (HP:0004540) | 1.92180693 |
| 101 | Hypoplastic pelvis (HP:0008839) | 1.91764861 |
| 102 | Abnormality of serine family amino acid metabolism (HP:0010894) | 1.89600587 |
| 103 | Abnormality of glycine metabolism (HP:0010895) | 1.89600587 |
| 104 | Poor suck (HP:0002033) | 1.87765004 |
| 105 | Microretrognathia (HP:0000308) | 1.87181473 |
| 106 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.86343923 |
| 107 | Absent epiphyses (HP:0010577) | 1.86343923 |
| 108 | Abnormal pupillary function (HP:0007686) | 1.84506705 |
| 109 | Medial flaring of the eyebrow (HP:0010747) | 1.84052187 |
| 110 | Aplasia/Hypoplasia involving the carpal bones (HP:0006502) | 1.82969839 |
| 111 | Abnormality of methionine metabolism (HP:0010901) | 1.81087048 |
| 112 | Abnormality of renal resorption (HP:0011038) | 1.80722483 |
| 113 | Palpitations (HP:0001962) | 1.80628571 |
| 114 | Abnormality of the umbilical cord (HP:0010881) | 1.80490837 |
| 115 | Generalized aminoaciduria (HP:0002909) | 1.79659799 |
| 116 | Ketosis (HP:0001946) | 1.78081558 |
| 117 | Abnormality of chromosome stability (HP:0003220) | 1.77697953 |
| 118 | Glossoptosis (HP:0000162) | 1.76831629 |
| 119 | Parakeratosis (HP:0001036) | 1.76460195 |
| 120 | Muscle fiber cytoplasmatic inclusion bodies (HP:0100303) | 1.76115720 |
| 121 | Large for gestational age (HP:0001520) | 1.75892794 |
| 122 | Abnormality of aspartate family amino acid metabolism (HP:0010899) | 1.75693050 |
| 123 | Abnormality of the preputium (HP:0100587) | 1.75648387 |
| 124 | Abnormality of the renal collecting system (HP:0004742) | 1.75545375 |
| 125 | Abnormality of the fetal cardiovascular system (HP:0010948) | 1.75312983 |
| 126 | Abnormal umbilical cord blood vessels (HP:0011403) | 1.75312983 |
| 127 | Single umbilical artery (HP:0001195) | 1.75312983 |
| 128 | Multiple enchondromatosis (HP:0005701) | 1.74659873 |
| 129 | Muscle fiber inclusion bodies (HP:0100299) | 1.74546419 |
| 130 | Adrenal hypoplasia (HP:0000835) | 1.74132444 |
| 131 | Sclerocornea (HP:0000647) | 1.73871854 |
| 132 | Patellar aplasia (HP:0006443) | 1.73866839 |
| 133 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.73153341 |
| 134 | Abnormal autonomic nervous system physiology (HP:0012332) | 1.72499790 |
| 135 | Aplasia/hypoplasia of the uterus (HP:0008684) | 1.72307595 |
| 136 | Calcaneovalgus deformity (HP:0001848) | 1.72007034 |
| 137 | Neoplasm of the adrenal gland (HP:0100631) | 1.71233565 |
| 138 | Abolished electroretinogram (ERG) (HP:0000550) | 1.71088812 |
| 139 | X-linked dominant inheritance (HP:0001423) | 1.70614527 |
| 140 | Chromsome breakage (HP:0040012) | 1.70314512 |
| 141 | Aplasia/Hypoplasia of the tibia (HP:0005772) | 1.70282819 |
| 142 | Ketoacidosis (HP:0001993) | 1.70158288 |
| 143 | Genital tract atresia (HP:0001827) | 1.69489588 |
| 144 | Abnormal respiratory motile cilium morphology (HP:0005938) | 1.69251341 |
| 145 | Abnormal respiratory epithelium morphology (HP:0012253) | 1.69251341 |
| 146 | Abnormality of the renal medulla (HP:0100957) | 1.68909080 |
| 147 | Abnormal lung lobation (HP:0002101) | 1.68251388 |
| 148 | Vaginal atresia (HP:0000148) | 1.66711667 |
| 149 | Aplasia/Hypoplasia of the patella (HP:0006498) | 1.66497713 |
| 150 | Oligodactyly (hands) (HP:0001180) | 1.66003372 |
| 151 | Blindness (HP:0000618) | 1.65461627 |
| 152 | Abnormalities of placenta or umbilical cord (HP:0001194) | 1.65362036 |
| 153 | Type II lissencephaly (HP:0007260) | 1.65297621 |
| 154 | Trismus (HP:0000211) | 1.64278720 |
| 155 | Abnormality of the pons (HP:0007361) | 1.64014741 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | BUB1 | 4.56607704 |
| 2 | EIF2AK1 | 3.75744771 |
| 3 | WEE1 | 3.60631162 |
| 4 | STK16 | 3.12008878 |
| 5 | LIMK1 | 2.60283492 |
| 6 | NME2 | 2.50179822 |
| 7 | TESK2 | 2.45588261 |
| 8 | PBK | 2.43902966 |
| 9 | FRK | 2.33885307 |
| 10 | NME1 | 2.28735624 |
| 11 | EIF2AK3 | 2.25348618 |
| 12 | TESK1 | 2.14112224 |
| 13 | VRK2 | 2.09616101 |
| 14 | CDC7 | 2.04644848 |
| 15 | MAP4K2 | 2.03958691 |
| 16 | PNCK | 2.03141720 |
| 17 | NUAK1 | 1.91908970 |
| 18 | BRSK2 | 1.90965754 |
| 19 | BCR | 1.89989832 |
| 20 | SRPK1 | 1.89415077 |
| 21 | CDK19 | 1.88753036 |
| 22 | VRK1 | 1.85946191 |
| 23 | TSSK6 | 1.82803270 |
| 24 | ACVR1B | 1.78633434 |
| 25 | PLK4 | 1.76789174 |
| 26 | TRIM28 | 1.72725617 |
| 27 | NEK1 | 1.71303928 |
| 28 | ARAF | 1.59678942 |
| 29 | MAP3K12 | 1.56917156 |
| 30 | TLK1 | 1.55047020 |
| 31 | STK39 | 1.46935186 |
| 32 | MAP3K4 | 1.43941074 |
| 33 | PLK3 | 1.42241310 |
| 34 | AURKA | 1.41955629 |
| 35 | BRSK1 | 1.38956512 |
| 36 | PDK3 | 1.37662618 |
| 37 | PDK4 | 1.37662618 |
| 38 | DYRK2 | 1.37492135 |
| 39 | CCNB1 | 1.36806582 |
| 40 | PLK1 | 1.29459255 |
| 41 | MKNK2 | 1.27991752 |
| 42 | PIM2 | 1.26425840 |
| 43 | OBSCN | 1.23686984 |
| 44 | ERBB3 | 1.23451254 |
| 45 | CSNK1G3 | 1.22432387 |
| 46 | MKNK1 | 1.21284354 |
| 47 | GRK1 | 1.19100619 |
| 48 | MST4 | 1.18480255 |
| 49 | MAP3K11 | 1.12760708 |
| 50 | TAF1 | 1.09285926 |
| 51 | TNIK | 1.00147613 |
| 52 | BRAF | 0.95510832 |
| 53 | CDK8 | 0.95292092 |
| 54 | DYRK3 | 0.94648764 |
| 55 | MUSK | 0.90143920 |
| 56 | PLK2 | 0.89145012 |
| 57 | PDK2 | 0.87828231 |
| 58 | TTK | 0.85153198 |
| 59 | PHKG2 | 0.84522849 |
| 60 | PHKG1 | 0.84522849 |
| 61 | BCKDK | 0.83418610 |
| 62 | CSNK1G1 | 0.80170013 |
| 63 | AURKB | 0.79900697 |
| 64 | PAK1 | 0.78615114 |
| 65 | OXSR1 | 0.76363751 |
| 66 | CDK14 | 0.75660199 |
| 67 | PINK1 | 0.75565355 |
| 68 | NEK2 | 0.71271067 |
| 69 | INSRR | 0.70866497 |
| 70 | ZAK | 0.70718326 |
| 71 | CSNK2A2 | 0.69775260 |
| 72 | CSNK2A1 | 0.69097559 |
| 73 | CHEK2 | 0.68146775 |
| 74 | BMPR1B | 0.68096947 |
| 75 | MYLK | 0.67975781 |
| 76 | CASK | 0.66804318 |
| 77 | ABL2 | 0.65553416 |
| 78 | MINK1 | 0.64022431 |
| 79 | PRKCG | 0.63697165 |
| 80 | CSNK1G2 | 0.63006140 |
| 81 | TXK | 0.62609591 |
| 82 | MAPKAPK5 | 0.62395296 |
| 83 | CDK7 | 0.62222398 |
| 84 | WNK3 | 0.62206571 |
| 85 | CDK18 | 0.61698110 |
| 86 | DAPK1 | 0.61167660 |
| 87 | WNK4 | 0.60856538 |
| 88 | CDK11A | 0.58105507 |
| 89 | PASK | 0.57513202 |
| 90 | STK38L | 0.57109066 |
| 91 | ILK | 0.57088060 |
| 92 | EPHA2 | 0.56697528 |
| 93 | TAOK3 | 0.56610838 |
| 94 | PRKCE | 0.56127570 |
| 95 | MAP2K7 | 0.53817960 |
| 96 | CDK15 | 0.53665743 |
| 97 | GRK7 | 0.53627042 |
| 98 | MARK1 | 0.53281731 |
| 99 | RPS6KB2 | 0.53108674 |
| 100 | CSNK1A1L | 0.51114860 |
| 101 | EIF2AK2 | 0.51001137 |
| 102 | ATM | 0.49785551 |
| 103 | ATR | 0.48988102 |
| 104 | UHMK1 | 0.48207429 |
| 105 | PAK3 | 0.46450900 |
| 106 | KDR | 0.45734476 |
| 107 | TIE1 | 0.44889798 |
| 108 | RPS6KA5 | 0.44536811 |
| 109 | CHEK1 | 0.43388147 |
| 110 | ADRBK1 | 0.41616580 |
| 111 | TGFBR1 | 0.41500706 |
| 112 | TEC | 0.40524184 |
| 113 | PRKCI | 0.39641821 |
| 114 | KSR1 | 0.39625491 |
| 115 | PAK4 | 0.38738188 |
| 116 | RPS6KA4 | 0.38392929 |
| 117 | SIK3 | 0.37957353 |
| 118 | LATS2 | 0.37779031 |
| 119 | CSNK1A1 | 0.37383981 |
| 120 | GRK5 | 0.37208988 |
| 121 | PIK3CG | 0.36860409 |
| 122 | CAMK2A | 0.36813855 |
| 123 | ADRBK2 | 0.35785308 |
| 124 | MAPK13 | 0.35220385 |
| 125 | DAPK2 | 0.34390731 |
| 126 | MAP2K6 | 0.31916741 |
| 127 | CSNK1E | 0.30836397 |
| 128 | MAP3K8 | 0.29710014 |
| 129 | YES1 | 0.29078307 |
| 130 | STK24 | 0.28961587 |
| 131 | PIK3CA | 0.27974358 |
| 132 | PRKACA | 0.27785425 |
| 133 | PRKACB | 0.27518018 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Proteasome_Homo sapiens_hsa03050 | 5.58497682 |
| 2 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 3.90550850 |
| 3 | Ribosome_Homo sapiens_hsa03010 | 3.86627234 |
| 4 | Parkinsons disease_Homo sapiens_hsa05012 | 3.53684655 |
| 5 | RNA polymerase_Homo sapiens_hsa03020 | 3.52522545 |
| 6 | DNA replication_Homo sapiens_hsa03030 | 2.97505828 |
| 7 | Huntingtons disease_Homo sapiens_hsa05016 | 2.70651738 |
| 8 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 2.57226465 |
| 9 | Mismatch repair_Homo sapiens_hsa03430 | 2.44422782 |
| 10 | Protein export_Homo sapiens_hsa03060 | 2.40528647 |
| 11 | Spliceosome_Homo sapiens_hsa03040 | 2.40463927 |
| 12 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 2.33892560 |
| 13 | Alzheimers disease_Homo sapiens_hsa05010 | 2.33770010 |
| 14 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 2.21569851 |
| 15 | RNA transport_Homo sapiens_hsa03013 | 2.21020695 |
| 16 | Nucleotide excision repair_Homo sapiens_hsa03420 | 2.11364923 |
| 17 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 1.95159168 |
| 18 | Basal transcription factors_Homo sapiens_hsa03022 | 1.91457104 |
| 19 | Base excision repair_Homo sapiens_hsa03410 | 1.75377862 |
| 20 | Homologous recombination_Homo sapiens_hsa03440 | 1.75303646 |
| 21 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 1.70333936 |
| 22 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.57842052 |
| 23 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 1.48500926 |
| 24 | Cell cycle_Homo sapiens_hsa04110 | 1.48415459 |
| 25 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 1.45780465 |
| 26 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.35733398 |
| 27 | Purine metabolism_Homo sapiens_hsa00230 | 1.33941689 |
| 28 | Steroid biosynthesis_Homo sapiens_hsa00100 | 1.27220850 |
| 29 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.22606164 |
| 30 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.22143395 |
| 31 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.21696342 |
| 32 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.17568695 |
| 33 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.17541164 |
| 34 | RNA degradation_Homo sapiens_hsa03018 | 1.13778798 |
| 35 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.13713570 |
| 36 | Folate biosynthesis_Homo sapiens_hsa00790 | 1.09449921 |
| 37 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.08471866 |
| 38 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 1.05729047 |
| 39 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.00294075 |
| 40 | Sulfur relay system_Homo sapiens_hsa04122 | 1.00073029 |
| 41 | Phototransduction_Homo sapiens_hsa04744 | 0.96889536 |
| 42 | Carbon metabolism_Homo sapiens_hsa01200 | 0.94852335 |
| 43 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.91763384 |
| 44 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.91077854 |
| 45 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.89984200 |
| 46 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.88863398 |
| 47 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.88798176 |
| 48 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.88296670 |
| 49 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.88247552 |
| 50 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.84790932 |
| 51 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.84410689 |
| 52 | Metabolic pathways_Homo sapiens_hsa01100 | 0.82206734 |
| 53 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.81877111 |
| 54 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.81757358 |
| 55 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.80293906 |
| 56 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.79781820 |
| 57 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.78944296 |
| 58 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.78401922 |
| 59 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.77012037 |
| 60 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.76723730 |
| 61 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.74949930 |
| 62 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.73450878 |
| 63 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.72561932 |
| 64 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.72333094 |
| 65 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.71714307 |
| 66 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.68692308 |
| 67 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.68332612 |
| 68 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.68019199 |
| 69 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 0.66201416 |
| 70 | Retinol metabolism_Homo sapiens_hsa00830 | 0.65096560 |
| 71 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 0.63107710 |
| 72 | Nicotine addiction_Homo sapiens_hsa05033 | 0.62434084 |
| 73 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.61637322 |
| 74 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.61261837 |
| 75 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.59773750 |
| 76 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.59660202 |
| 77 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.58555087 |
| 78 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.58013720 |
| 79 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.53693091 |
| 80 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.53512919 |
| 81 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.52724060 |
| 82 | Olfactory transduction_Homo sapiens_hsa04740 | 0.49647389 |
| 83 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.48511174 |
| 84 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.48331838 |
| 85 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.48223039 |
| 86 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.44941450 |
| 87 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.43199337 |
| 88 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.42562232 |
| 89 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.42414350 |
| 90 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.42314540 |
| 91 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.40854794 |
| 92 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.40263409 |
| 93 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.39781334 |
| 94 | Histidine metabolism_Homo sapiens_hsa00340 | 0.36881336 |
| 95 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 0.34058077 |
| 96 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.33501701 |
| 97 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.32596635 |
| 98 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.31794301 |
| 99 | Peroxisome_Homo sapiens_hsa04146 | 0.31026021 |
| 100 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.30513622 |
| 101 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.30379239 |
| 102 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.28864249 |
| 103 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.28389289 |
| 104 | Taste transduction_Homo sapiens_hsa04742 | 0.27849299 |
| 105 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.27711535 |
| 106 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.26646739 |
| 107 | GABAergic synapse_Homo sapiens_hsa04727 | 0.26534548 |
| 108 | Alcoholism_Homo sapiens_hsa05034 | 0.26304360 |
| 109 | Phagosome_Homo sapiens_hsa04145 | 0.25326993 |
| 110 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.22167471 |
| 111 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.20894985 |
| 112 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.17536225 |
| 113 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.17391576 |
| 114 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.15807887 |
| 115 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.12879058 |
| 116 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.11202844 |
| 117 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 0.09619090 |
| 118 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.08891422 |
| 119 | Legionellosis_Homo sapiens_hsa05134 | 0.07402908 |
| 120 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.07253927 |
| 121 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.07222340 |
| 122 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.07097093 |
| 123 | Galactose metabolism_Homo sapiens_hsa00052 | 0.06743067 |
| 124 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.05687973 |

