

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | * mitochondrial electron transport, NADH to ubiquinone (GO:0006120) | 9.49525865 |
| 2 | * respiratory electron transport chain (GO:0022904) | 8.65840187 |
| 3 | * electron transport chain (GO:0022900) | 8.44914488 |
| 4 | ATP biosynthetic process (GO:0006754) | 5.41773519 |
| 5 | hydrogen ion transmembrane transport (GO:1902600) | 5.33557191 |
| 6 | chaperone-mediated protein transport (GO:0072321) | 5.21790018 |
| 7 | establishment of protein localization to mitochondrial membrane (GO:0090151) | 5.18900461 |
| 8 | protein complex biogenesis (GO:0070271) | 5.12030018 |
| 9 | purine ribonucleoside triphosphate biosynthetic process (GO:0009206) | 5.04050044 |
| 10 | inner mitochondrial membrane organization (GO:0007007) | 4.98728978 |
| 11 | protein neddylation (GO:0045116) | 4.98135327 |
| 12 | purine nucleoside triphosphate biosynthetic process (GO:0009145) | 4.94238886 |
| 13 | mitochondrial respiratory chain complex I biogenesis (GO:0097031) | 4.75594596 |
| 14 | mitochondrial respiratory chain complex I assembly (GO:0032981) | 4.75594596 |
| 15 | NADH dehydrogenase complex assembly (GO:0010257) | 4.75594596 |
| 16 | proton transport (GO:0015992) | 4.72149656 |
| 17 | hydrogen transport (GO:0006818) | 4.63687006 |
| 18 | oxidative phosphorylation (GO:0006119) | 4.61326181 |
| 19 | mitochondrial respiratory chain complex assembly (GO:0033108) | 4.53598646 |
| 20 | ribosomal small subunit assembly (GO:0000028) | 4.47246117 |
| 21 | ribonucleoside triphosphate biosynthetic process (GO:0009201) | 4.35183040 |
| 22 | regulation of oxidative phosphorylation (GO:0002082) | 4.18351822 |
| 23 | energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988) | 3.86292125 |
| 24 | ATP hydrolysis coupled proton transport (GO:0015991) | 3.86292125 |
| 25 | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436) | 3.76160735 |
| 26 | maturation of SSU-rRNA (GO:0030490) | 3.74200871 |
| 27 | GTP biosynthetic process (GO:0006183) | 3.72017879 |
| 28 | dopamine transport (GO:0015872) | 3.71289555 |
| 29 | termination of RNA polymerase III transcription (GO:0006386) | 3.68938232 |
| 30 | transcription elongation from RNA polymerase III promoter (GO:0006385) | 3.68938232 |
| 31 | nucleoside triphosphate biosynthetic process (GO:0009142) | 3.68843628 |
| 32 | platelet dense granule organization (GO:0060155) | 3.66954913 |
| 33 | translational initiation (GO:0006413) | 3.58485275 |
| 34 | ribosomal large subunit biogenesis (GO:0042273) | 3.56827072 |
| 35 | regulation of mitochondrial translation (GO:0070129) | 3.55110786 |
| 36 | positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437) | 3.53916203 |
| 37 | sequestering of actin monomers (GO:0042989) | 3.51627617 |
| 38 | aerobic respiration (GO:0009060) | 3.44895943 |
| 39 | cytochrome complex assembly (GO:0017004) | 3.44692672 |
| 40 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00 | 3.42114894 |
| 41 | negative regulation of ubiquitin-protein transferase activity (GO:0051444) | 3.41246919 |
| 42 | negative regulation of ligase activity (GO:0051352) | 3.41246919 |
| 43 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184) | 3.39902521 |
| 44 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) | 3.37146282 |
| 45 | respiratory chain complex IV assembly (GO:0008535) | 3.35705430 |
| 46 | ribosomal small subunit biogenesis (GO:0042274) | 3.34305867 |
| 47 | tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) | 3.30549692 |
| 48 | RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394) | 3.30549692 |
| 49 | signal transduction involved in mitotic cell cycle checkpoint (GO:0072413) | 3.30284585 |
| 50 | signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403) | 3.30284585 |
| 51 | signal transduction involved in mitotic DNA damage checkpoint (GO:1902402) | 3.30284585 |
| 52 | cotranslational protein targeting to membrane (GO:0006613) | 3.29674154 |
| 53 | signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431) | 3.29209942 |
| 54 | intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400) | 3.29209942 |
| 55 | protein targeting to ER (GO:0045047) | 3.23519425 |
| 56 | nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291) | 3.22566087 |
| 57 | SRP-dependent cotranslational protein targeting to membrane (GO:0006614) | 3.19952855 |
| 58 | mitochondrial transport (GO:0006839) | 3.19679029 |
| 59 | signal transduction involved in DNA integrity checkpoint (GO:0072401) | 3.14973777 |
| 60 | signal transduction involved in DNA damage checkpoint (GO:0072422) | 3.14973777 |
| 61 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0 | 3.13753630 |
| 62 | * generation of precursor metabolites and energy (GO:0006091) | 3.12653551 |
| 63 | signal transduction involved in cell cycle checkpoint (GO:0072395) | 3.11302796 |
| 64 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 3.10587019 |
| 65 | protein localization to endoplasmic reticulum (GO:0070972) | 3.10355999 |
| 66 | establishment of protein localization to endoplasmic reticulum (GO:0072599) | 3.10330521 |
| 67 | positive regulation of ubiquitin-protein transferase activity (GO:0051443) | 3.09361052 |
| 68 | water-soluble vitamin biosynthetic process (GO:0042364) | 3.05242167 |
| 69 | cellular component biogenesis (GO:0044085) | 3.05191199 |
| 70 | viral transcription (GO:0019083) | 3.04415119 |
| 71 | rRNA modification (GO:0000154) | 3.03517158 |
| 72 | protein complex disassembly (GO:0043241) | 2.98813875 |
| 73 | deoxyribonucleoside monophosphate metabolic process (GO:0009162) | 2.98466158 |
| 74 | signal peptide processing (GO:0006465) | 2.97790894 |
| 75 | positive regulation of ligase activity (GO:0051351) | 2.95895055 |
| 76 | negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315) | 2.91752780 |
| 77 | macromolecular complex disassembly (GO:0032984) | 2.91627369 |
| 78 | DNA deamination (GO:0045006) | 2.91088014 |
| 79 | translational termination (GO:0006415) | 2.90560930 |
| 80 | succinate metabolic process (GO:0006105) | 2.90345497 |
| 81 | UTP biosynthetic process (GO:0006228) | 2.90155005 |
| 82 | cullin deneddylation (GO:0010388) | 2.90056307 |
| 83 | regulation of cellular respiration (GO:0043457) | 2.88634006 |
| 84 | heart process (GO:0003015) | 2.88284575 |
| 85 | heart contraction (GO:0060047) | 2.88284575 |
| 86 | protein targeting to mitochondrion (GO:0006626) | 2.86669811 |
| 87 | establishment of protein localization to mitochondrion (GO:0072655) | 2.84244178 |
| 88 | calcium-mediated signaling using intracellular calcium source (GO:0035584) | 2.83486794 |
| 89 | dopamine biosynthetic process (GO:0042416) | 2.83267609 |
| 90 | tricarboxylic acid cycle (GO:0006099) | 2.82742364 |
| 91 | intracellular protein transmembrane import (GO:0044743) | 2.82034829 |
| 92 | ribonucleoside monophosphate biosynthetic process (GO:0009156) | 2.81193446 |
| 93 | detection of calcium ion (GO:0005513) | 2.79177816 |
| 94 | nucleoside monophosphate biosynthetic process (GO:0009124) | 2.78726664 |
| 95 | aldehyde catabolic process (GO:0046185) | 2.77055454 |
| 96 | regulation of cellular amine metabolic process (GO:0033238) | 2.75809448 |
| 97 | protein localization to mitochondrion (GO:0070585) | 2.75801447 |
| 98 | pseudouridine synthesis (GO:0001522) | 2.74610374 |
| 99 | purine nucleoside monophosphate biosynthetic process (GO:0009127) | 2.74409518 |
| 100 | purine ribonucleoside monophosphate biosynthetic process (GO:0009168) | 2.74409518 |
| 101 | regulation of dopamine metabolic process (GO:0042053) | 2.72836186 |
| 102 | regulation of catecholamine metabolic process (GO:0042069) | 2.72836186 |
| 103 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO: | 2.72680985 |
| 104 | protein-cofactor linkage (GO:0018065) | 2.70735645 |
| 105 | peptidyl-histidine modification (GO:0018202) | 2.69454423 |
| 106 | cellular respiration (GO:0045333) | 2.63126895 |
| 107 | quinone biosynthetic process (GO:1901663) | 2.62935600 |
| 108 | ubiquinone biosynthetic process (GO:0006744) | 2.62935600 |
| 109 | neuron cell-cell adhesion (GO:0007158) | 2.62737050 |
| 110 | guanosine-containing compound biosynthetic process (GO:1901070) | 2.61756597 |
| 111 | substantia nigra development (GO:0021762) | 2.60663468 |
| 112 | nucleoside diphosphate phosphorylation (GO:0006165) | 2.57906791 |
| 113 | phagosome maturation (GO:0090382) | 2.52410074 |
| 114 | UTP metabolic process (GO:0046051) | 2.52305900 |
| 115 | sarcoplasmic reticulum calcium ion transport (GO:0070296) | 2.52036688 |
| 116 | purine nucleoside biosynthetic process (GO:0042451) | 2.51600449 |
| 117 | purine ribonucleoside biosynthetic process (GO:0046129) | 2.51600449 |
| 118 | ubiquinone metabolic process (GO:0006743) | 2.46569443 |
| 119 | catecholamine transport (GO:0051937) | 2.44378885 |
| 120 | mitochondrion morphogenesis (GO:0070584) | 2.40915032 |
| 121 | regulation of protein kinase A signaling (GO:0010738) | 2.39998311 |
| 122 | proteasome assembly (GO:0043248) | 2.37968827 |
| 123 | regulation of cell communication by electrical coupling (GO:0010649) | 2.37948210 |
| 124 | translation (GO:0006412) | 2.37801039 |
| 125 | transferrin transport (GO:0033572) | 2.37645172 |
| 126 | CTP biosynthetic process (GO:0006241) | 2.37539467 |
| 127 | CTP metabolic process (GO:0046036) | 2.37539467 |
| 128 | viral life cycle (GO:0019058) | 2.32828932 |
| 129 | protein localization to cilium (GO:0061512) | 2.30375981 |
| 130 | cellular protein complex disassembly (GO:0043624) | 2.29382360 |
| 131 | regulation of relaxation of muscle (GO:1901077) | 2.25778673 |
| 132 | NADH metabolic process (GO:0006734) | 2.25490833 |
| 133 | intracellular protein transmembrane transport (GO:0065002) | 2.22670206 |
| 134 | regulation of cellular amino acid metabolic process (GO:0006521) | 2.21550466 |
| 135 | ferric iron transport (GO:0015682) | 2.21023315 |
| 136 | trivalent inorganic cation transport (GO:0072512) | 2.21023315 |
| 137 | translational elongation (GO:0006414) | 2.20793948 |
| 138 | negative regulation of calcium ion transmembrane transporter activity (GO:1901020) | 2.20503521 |
| 139 | negative regulation of calcium ion transmembrane transport (GO:1903170) | 2.20503521 |
| 140 | protein targeting to membrane (GO:0006612) | 2.19446225 |
| 141 | positive regulation of action potential (GO:0045760) | 2.18676851 |
| 142 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 10.5619891 |
| 143 | ATP synthesis coupled proton transport (GO:0015986) | 10.0931384 |
| 144 | energy coupled proton transport, down electrochemical gradient (GO:0015985) | 10.0931384 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 3.74569001 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.45821030 |
| 3 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 2.96784077 |
| 4 | VDR_22108803_ChIP-Seq_LS180_Human | 2.94322756 |
| 5 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 2.89280197 |
| 6 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 2.72445368 |
| 7 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 2.54191451 |
| 8 | TAF15_26573619_Chip-Seq_HEK293_Human | 2.49336702 |
| 9 | VDR_23849224_ChIP-Seq_CD4+_Human | 2.47362511 |
| 10 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 2.47002295 |
| 11 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.31565972 |
| 12 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.28871427 |
| 13 | ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 2.26146257 |
| 14 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.24170064 |
| 15 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.22669896 |
| 16 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 2.21593892 |
| 17 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 2.20014393 |
| 18 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 2.10697544 |
| 19 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 2.06801344 |
| 20 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 2.05510704 |
| 21 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 2.04887103 |
| 22 | FOXP3_21729870_ChIP-Seq_TREG_Human | 1.99818714 |
| 23 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 1.96959169 |
| 24 | SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 1.94834115 |
| 25 | * MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.92431850 |
| 26 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.89841117 |
| 27 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.87581395 |
| 28 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 1.87230080 |
| 29 | SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 1.87053958 |
| 30 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 1.85952784 |
| 31 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.77095410 |
| 32 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.75382808 |
| 33 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.74659185 |
| 34 | SUZ12_18692474_ChIP-Seq_MEFs_Mouse | 1.74141109 |
| 35 | SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 1.72892295 |
| 36 | * JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 1.70116635 |
| 37 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.69132806 |
| 38 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 1.68309841 |
| 39 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 1.68124753 |
| 40 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.67880111 |
| 41 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.66335408 |
| 42 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.64406379 |
| 43 | * E2F1_18555785_ChIP-Seq_MESCs_Mouse | 1.63039754 |
| 44 | P300_19829295_ChIP-Seq_ESCs_Human | 1.60937111 |
| 45 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 1.57454614 |
| 46 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 1.56166151 |
| 47 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 1.55848963 |
| 48 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 1.55738681 |
| 49 | SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 1.54022641 |
| 50 | FUS_26573619_Chip-Seq_HEK293_Human | 1.52428546 |
| 51 | XRN2_22483619_ChIP-Seq_HELA_Human | 1.50534262 |
| 52 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 1.48055295 |
| 53 | * CEBPB_24764292_ChIP-Seq_MC3T3_Mouse | 1.47407534 |
| 54 | POU5F1_18358816_ChIP-ChIP_MESCs_Mouse | 1.46157785 |
| 55 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.45765555 |
| 56 | EWS_26573619_Chip-Seq_HEK293_Human | 1.44898416 |
| 57 | FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse | 1.44855886 |
| 58 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.44172345 |
| 59 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.42944007 |
| 60 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.41976002 |
| 61 | GABP_19822575_ChIP-Seq_HepG2_Human | 1.41447465 |
| 62 | SRF_21415370_ChIP-Seq_HL-1_Mouse | 1.41089718 |
| 63 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.40169387 |
| 64 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 1.37662211 |
| 65 | FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 1.36597646 |
| 66 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.36052805 |
| 67 | MTF2_20144788_ChIP-Seq_MESCs_Mouse | 1.34990944 |
| 68 | PADI4_21655091_ChIP-ChIP_MCF-7_Human | 1.34753998 |
| 69 | HOXB4_20404135_ChIP-ChIP_EML_Mouse | 1.34074451 |
| 70 | SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 1.33598586 |
| 71 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 1.33212011 |
| 72 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.28796226 |
| 73 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.28629509 |
| 74 | RNF2_18974828_ChIP-Seq_MESCs_Mouse | 1.28212145 |
| 75 | EZH2_18974828_ChIP-Seq_MESCs_Mouse | 1.28212145 |
| 76 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.27374425 |
| 77 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 1.27246113 |
| 78 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 1.26859145 |
| 79 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.26323111 |
| 80 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.25887249 |
| 81 | PHC1_16625203_ChIP-ChIP_MESCs_Mouse | 1.25299702 |
| 82 | ELK1_22589737_ChIP-Seq_MCF10A_Human | 1.25156160 |
| 83 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 1.24462668 |
| 84 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.23765671 |
| 85 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 1.22935254 |
| 86 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.19793007 |
| 87 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.19672444 |
| 88 | HTT_18923047_ChIP-ChIP_STHdh_Human | 1.18106525 |
| 89 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.18000252 |
| 90 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 1.15365668 |
| 91 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.15190211 |
| 92 | CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 1.14442642 |
| 93 | SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.13355667 |
| 94 | IKZF1_21737484_ChIP-ChIP_HCT116_Human | 1.13083154 |
| 95 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.11992604 |
| 96 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.11245495 |
| 97 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.10839094 |
| 98 | ASH2L_23239880_ChIP-Seq_MESCs_Mouse | 1.09317696 |
| 99 | * FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.09022306 |
| 100 | * FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.09022306 |
| 101 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.08565957 |
| 102 | ELK1_19687146_ChIP-ChIP_HELA_Human | 1.07291095 |
| 103 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.05892580 |
| 104 | CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human | 1.05456379 |
| 105 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.05359154 |
| 106 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.04390230 |
| 107 | AR_20517297_ChIP-Seq_VCAP_Human | 1.04291563 |
| 108 | OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.03426325 |
| 109 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.03189111 |
| 110 | NR3C1_23031785_ChIP-Seq_PC12_Mouse | 1.01919114 |
| 111 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.01247310 |
| 112 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.00584593 |
| 113 | PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse | 0.99335656 |
| 114 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 0.99195129 |
| 115 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 0.99076216 |
| 116 | BCAT_22108803_ChIP-Seq_LS180_Human | 0.98260430 |
| 117 | REST_18959480_ChIP-ChIP_MESCs_Mouse | 0.98227835 |
| 118 | SOX2_19829295_ChIP-Seq_ESCs_Human | 0.97908365 |
| 119 | NANOG_19829295_ChIP-Seq_ESCs_Human | 0.97908365 |
| 120 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 0.97556579 |
| 121 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 0.97302586 |
| 122 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 0.96521262 |
| 123 | REST_19997604_ChIP-ChIP_NEURONS_Mouse | 0.94111408 |
| 124 | BCL3_23251550_ChIP-Seq_MUSCLE_Mouse | 0.93856168 |
| 125 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 0.93408412 |
| 126 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 0.92493526 |
| 127 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 0.92303852 |
| 128 | P53_22387025_ChIP-Seq_ESCs_Mouse | 0.91908627 |
| 129 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 0.91593068 |
| 130 | JUN_21703547_ChIP-Seq_K562_Human | 0.90948572 |
| 131 | HNF4A_19761587_ChIP-ChIP_CACO-2_Human | 0.90825132 |
| 132 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 0.90759641 |
| 133 | CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse | 0.90615911 |
| 134 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 0.90441301 |
| 135 | FLI1_20887958_ChIP-Seq_HPC-7_Mouse | 0.90014437 |
| 136 | SOX2_16153702_ChIP-ChIP_HESCs_Human | 0.89741010 |
| 137 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 0.88587951 |
| 138 | EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 0.87689876 |
| 139 | YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 0.87401084 |
| 140 | CTCF_18555785_ChIP-Seq_MESCs_Mouse | 0.85027155 |
| 141 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 0.84940747 |
| 142 | NCOR_22424771_ChIP-Seq_293T_Human | 0.84875627 |
| 143 | SOX2_18555785_Chip-Seq_ESCs_Mouse | 0.84672717 |
| 144 | NRF2_20460467_ChIP-Seq_MEFs_Mouse | 0.84581739 |
| 145 | NFE2L2_20460467_ChIP-Seq_MEFs_Mouse | 0.84581739 |
| 146 | CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human | 0.84257037 |
| 147 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 0.83985258 |
| 148 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 0.82267663 |
| 149 | RBPJ_21746931_ChIP-Seq_IB4_Human | 0.82086479 |
| 150 | NANOG_16153702_ChIP-ChIP_HESCs_Human | 0.81872750 |
| 151 | PHF8_20622853_ChIP-Seq_HELA_Human | 0.79249028 |
| 152 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 0.77777450 |
| 153 | MYC_19829295_ChIP-Seq_ESCs_Human | 0.77155317 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0002837_dystrophic_cardiac_calcinosis | 4.51768979 |
| 2 | MP0003880_abnormal_central_pattern | 4.10571566 |
| 3 | MP0001529_abnormal_vocalization | 3.34182354 |
| 4 | MP0009379_abnormal_foot_pigmentation | 3.05962463 |
| 5 | MP0006276_abnormal_autonomic_nervous | 3.01162233 |
| 6 | MP0003806_abnormal_nucleotide_metabolis | 2.66646348 |
| 7 | MP0003646_muscle_fatigue | 2.62239023 |
| 8 | MP0004147_increased_porphyrin_level | 2.47383361 |
| 9 | MP0001905_abnormal_dopamine_level | 2.47061532 |
| 10 | MP0006036_abnormal_mitochondrial_physio | 2.41113226 |
| 11 | MP0010386_abnormal_urinary_bladder | 2.30208390 |
| 12 | MP0002638_abnormal_pupillary_reflex | 2.10204348 |
| 13 | MP0002938_white_spotting | 2.09425167 |
| 14 | MP0003011_delayed_dark_adaptation | 2.06086861 |
| 15 | MP0005379_endocrine/exocrine_gland_phen | 2.05666298 |
| 16 | MP0004215_abnormal_myocardial_fiber | 1.97824114 |
| 17 | MP0002736_abnormal_nociception_after | 1.96562553 |
| 18 | MP0001968_abnormal_touch/_nociception | 1.96048187 |
| 19 | MP0000751_myopathy | 1.91984087 |
| 20 | MP0006292_abnormal_olfactory_placode | 1.91037223 |
| 21 | MP0004142_abnormal_muscle_tone | 1.89952156 |
| 22 | MP0002163_abnormal_gland_morphology | 1.85689673 |
| 23 | MP0006035_abnormal_mitochondrial_morpho | 1.84256279 |
| 24 | MP0009745_abnormal_behavioral_response | 1.84061259 |
| 25 | MP0004043_abnormal_pH_regulation | 1.82760945 |
| 26 | MP0001440_abnormal_grooming_behavior | 1.80414625 |
| 27 | MP0002876_abnormal_thyroid_physiology | 1.78621570 |
| 28 | MP0000749_muscle_degeneration | 1.75983543 |
| 29 | MP0002272_abnormal_nervous_system | 1.74500356 |
| 30 | MP0009046_muscle_twitch | 1.72910545 |
| 31 | MP0004036_abnormal_muscle_relaxation | 1.70958107 |
| 32 | MP0002064_seizures | 1.70798262 |
| 33 | MP0008995_early_reproductive_senescence | 1.68481507 |
| 34 | MP0005645_abnormal_hypothalamus_physiol | 1.68053402 |
| 35 | MP0003195_calcinosis | 1.67781895 |
| 36 | MP0002735_abnormal_chemical_nociception | 1.67026767 |
| 37 | MP0002822_catalepsy | 1.64993706 |
| 38 | MP0001984_abnormal_olfaction | 1.64817768 |
| 39 | MP0001501_abnormal_sleep_pattern | 1.60844309 |
| 40 | MP0005535_abnormal_body_temperature | 1.60130040 |
| 41 | MP0008058_abnormal_DNA_repair | 1.58220656 |
| 42 | MP0000013_abnormal_adipose_tissue | 1.58039761 |
| 43 | MP0003136_yellow_coat_color | 1.57650219 |
| 44 | MP0008875_abnormal_xenobiotic_pharmacok | 1.56465927 |
| 45 | MP0002332_abnormal_exercise_endurance | 1.55968735 |
| 46 | MP0002734_abnormal_mechanical_nocicepti | 1.52067950 |
| 47 | MP0003635_abnormal_synaptic_transmissio | 1.51641149 |
| 48 | MP0002572_abnormal_emotion/affect_behav | 1.48818044 |
| 49 | MP0001485_abnormal_pinna_reflex | 1.48490096 |
| 50 | MP0004924_abnormal_behavior | 1.45860818 |
| 51 | MP0005386_behavior/neurological_phenoty | 1.45860818 |
| 52 | MP0001970_abnormal_pain_threshold | 1.45679661 |
| 53 | MP0005332_abnormal_amino_acid | 1.45591160 |
| 54 | MP0002234_abnormal_pharynx_morphology | 1.42251818 |
| 55 | MP0003786_premature_aging | 1.41407682 |
| 56 | MP0002102_abnormal_ear_morphology | 1.36543714 |
| 57 | MP0005423_abnormal_somatic_nervous | 1.35590464 |
| 58 | MP0005646_abnormal_pituitary_gland | 1.35221828 |
| 59 | MP0003122_maternal_imprinting | 1.34132073 |
| 60 | MP0008877_abnormal_DNA_methylation | 1.33984058 |
| 61 | MP0004145_abnormal_muscle_electrophysio | 1.33596858 |
| 62 | MP0003137_abnormal_impulse_conducting | 1.30870091 |
| 63 | MP0005330_cardiomyopathy | 1.30589521 |
| 64 | MP0006072_abnormal_retinal_apoptosis | 1.29889922 |
| 65 | MP0002733_abnormal_thermal_nociception | 1.29866468 |
| 66 | MP0004019_abnormal_vitamin_homeostasis | 1.28793567 |
| 67 | MP0001486_abnormal_startle_reflex | 1.25617032 |
| 68 | MP0002972_abnormal_cardiac_muscle | 1.24341553 |
| 69 | MP0002063_abnormal_learning/memory/cond | 1.24280306 |
| 70 | MP0002067_abnormal_sensory_capabilities | 1.23823355 |
| 71 | MP0000372_irregular_coat_pigmentation | 1.22494255 |
| 72 | MP0005409_darkened_coat_color | 1.21946488 |
| 73 | MP0004484_altered_response_of | 1.21621430 |
| 74 | MP0003186_abnormal_redox_activity | 1.20560001 |
| 75 | MP0002139_abnormal_hepatobiliary_system | 1.20218851 |
| 76 | MP0004084_abnormal_cardiac_muscle | 1.18335899 |
| 77 | MP0003718_maternal_effect | 1.14658694 |
| 78 | MP0005084_abnormal_gallbladder_morpholo | 1.14282779 |
| 79 | MP0004133_heterotaxia | 1.12819544 |
| 80 | MP0004085_abnormal_heartbeat | 1.12138960 |
| 81 | MP0003724_increased_susceptibility_to | 1.11836795 |
| 82 | MP0004885_abnormal_endolymph | 1.11073850 |
| 83 | MP0001188_hyperpigmentation | 1.10882295 |
| 84 | MP0000538_abnormal_urinary_bladder | 1.08121448 |
| 85 | MP0005075_abnormal_melanosome_morpholog | 1.04687355 |
| 86 | MP0004742_abnormal_vestibular_system | 1.04309698 |
| 87 | MP0008872_abnormal_physiological_respon | 1.03827761 |
| 88 | MP0000230_abnormal_systemic_arterial | 1.03441413 |
| 89 | MP0005636_abnormal_mineral_homeostasis | 1.03324527 |
| 90 | MP0008789_abnormal_olfactory_epithelium | 1.03288746 |
| 91 | MP0005620_abnormal_muscle_contractility | 1.02322197 |
| 92 | MP0003787_abnormal_imprinting | 1.01156590 |
| 93 | MP0004270_analgesia | 1.01127466 |
| 94 | MP0001727_abnormal_embryo_implantation | 0.99406038 |
| 95 | MP0001919_abnormal_reproductive_system | 0.96811750 |
| 96 | MP0002184_abnormal_innervation | 0.96672645 |
| 97 | MP0002095_abnormal_skin_pigmentation | 0.94923454 |
| 98 | MP0002693_abnormal_pancreas_physiology | 0.94803493 |
| 99 | MP0002557_abnormal_social/conspecific_i | 0.93715914 |
| 100 | MP0005389_reproductive_system_phenotype | 0.93051996 |
| 101 | MP0001986_abnormal_taste_sensitivity | 0.92565570 |
| 102 | MP0001756_abnormal_urination | 0.91769954 |
| 103 | MP0001664_abnormal_digestion | 0.90602760 |
| 104 | MP0002160_abnormal_reproductive_system | 0.89980994 |
| 105 | MP0005551_abnormal_eye_electrophysiolog | 0.89565095 |
| 106 | MP0002148_abnormal_hypersensitivity_rea | 0.88733858 |
| 107 | MP0002277_abnormal_respiratory_mucosa | 0.86027027 |
| 108 | MP0002090_abnormal_vision | 0.85909834 |
| 109 | MP0002653_abnormal_ependyma_morphology | 0.85247019 |
| 110 | MP0001502_abnormal_circadian_rhythm | 0.84670323 |
| 111 | MP0002106_abnormal_muscle_physiology | 0.84420479 |
| 112 | MP0005365_abnormal_bile_salt | 0.83323542 |
| 113 | MP0008775_abnormal_heart_ventricle | 0.81457537 |
| 114 | MP0003283_abnormal_digestive_organ | 0.81144378 |
| 115 | MP0005085_abnormal_gallbladder_physiolo | 0.78915928 |
| 116 | MP0005266_abnormal_metabolism | 0.78480751 |
| 117 | MP0000026_abnormal_inner_ear | 0.78333635 |
| 118 | MP0002909_abnormal_adrenal_gland | 0.78095732 |
| 119 | MP0005253_abnormal_eye_physiology | 0.76229992 |
| 120 | MP0003959_abnormal_lean_body | 0.76121670 |
| 121 | MP0005410_abnormal_fertilization | 0.75951357 |
| 122 | MP0000631_abnormal_neuroendocrine_gland | 0.75717989 |
| 123 | MP0005171_absent_coat_pigmentation | 0.75693347 |
| 124 | MP0001764_abnormal_homeostasis | 0.74778102 |
| 125 | MP0001944_abnormal_pancreas_morphology | 0.74668862 |
| 126 | MP0010030_abnormal_orbit_morphology | 0.74586274 |
| 127 | MP0003121_genomic_imprinting | 0.72892012 |
| 128 | MP0002066_abnormal_motor_capabilities/c | 0.72775571 |
| 129 | MP0001544_abnormal_cardiovascular_syste | 0.72524501 |
| 130 | MP0005385_cardiovascular_system_phenoty | 0.72524501 |
| 131 | MP0005174_abnormal_tail_pigmentation | 0.72220615 |
| 132 | MP0009697_abnormal_copulation | 0.71292622 |
| 133 | MP0005377_hearing/vestibular/ear_phenot | 0.71089004 |
| 134 | MP0003878_abnormal_ear_physiology | 0.71089004 |
| 135 | MP0002210_abnormal_sex_determination | 0.70475266 |
| 136 | MP0005369_muscle_phenotype | 0.69656113 |
| 137 | MP0000920_abnormal_myelination | 0.69507960 |
| 138 | MP0000778_abnormal_nervous_system | 0.68907023 |
| 139 | MP0005165_increased_susceptibility_to | 0.68609475 |
| 140 | MP0001963_abnormal_hearing_physiology | 0.68240141 |
| 141 | MP0005376_homeostasis/metabolism_phenot | 0.68097767 |
| 142 | MP0005408_hypopigmentation | 0.67266575 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | * Acute necrotizing encephalopathy (HP:0006965) | 7.65123435 |
| 2 | * Abnormal mitochondria in muscle tissue (HP:0008316) | 6.96744091 |
| 3 | * Mitochondrial inheritance (HP:0001427) | 6.49871843 |
| 4 | * Progressive macrocephaly (HP:0004481) | 6.47780224 |
| 5 | * Acute encephalopathy (HP:0006846) | 6.31783501 |
| 6 | * Increased CSF lactate (HP:0002490) | 5.44021904 |
| 7 | Hepatocellular necrosis (HP:0001404) | 5.36380179 |
| 8 | Increased hepatocellular lipid droplets (HP:0006565) | 5.13074909 |
| 9 | Hepatic necrosis (HP:0002605) | 5.04750777 |
| 10 | Lipid accumulation in hepatocytes (HP:0006561) | 4.73307501 |
| 11 | Renal Fanconi syndrome (HP:0001994) | 4.63545942 |
| 12 | * Cerebral edema (HP:0002181) | 4.45444648 |
| 13 | Increased intramyocellular lipid droplets (HP:0012240) | 4.19248875 |
| 14 | Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688) | 4.14425915 |
| 15 | * Optic disc pallor (HP:0000543) | 3.92655478 |
| 16 | * Exercise intolerance (HP:0003546) | 3.90881884 |
| 17 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 3.78754407 |
| 18 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 3.78754407 |
| 19 | * Lactic acidosis (HP:0003128) | 3.76460300 |
| 20 | * Respiratory failure (HP:0002878) | 3.73868861 |
| 21 | Increased muscle lipid content (HP:0009058) | 3.72346388 |
| 22 | Muscle abnormality related to mitochondrial dysfunction (HP:0003800) | 3.69998700 |
| 23 | 3-Methylglutaconic aciduria (HP:0003535) | 3.55825313 |
| 24 | Exertional dyspnea (HP:0002875) | 3.41105201 |
| 25 | * Leukodystrophy (HP:0002415) | 3.33476422 |
| 26 | Neuroendocrine neoplasm (HP:0100634) | 3.33289018 |
| 27 | Congenital, generalized hypertrichosis (HP:0004540) | 3.24684806 |
| 28 | Abnormality of renal resorption (HP:0011038) | 3.22627396 |
| 29 | Pheochromocytoma (HP:0002666) | 3.22449732 |
| 30 | Reticulocytopenia (HP:0001896) | 3.20484660 |
| 31 | Increased serum lactate (HP:0002151) | 3.08103576 |
| 32 | Respiratory difficulties (HP:0002880) | 2.97835953 |
| 33 | Increased serum pyruvate (HP:0003542) | 2.96163107 |
| 34 | Abnormality of glycolysis (HP:0004366) | 2.96163107 |
| 35 | Congenital nonbullous ichthyosiform erythroderma (HP:0007479) | 2.88387918 |
| 36 | Glycosuria (HP:0003076) | 2.80999030 |
| 37 | Abnormality of urine glucose concentration (HP:0011016) | 2.80999030 |
| 38 | Hypothermia (HP:0002045) | 2.77174941 |
| 39 | Muscle hypertrophy of the lower extremities (HP:0008968) | 2.76564359 |
| 40 | Calf muscle hypertrophy (HP:0008981) | 2.70809629 |
| 41 | * X-linked dominant inheritance (HP:0001423) | 2.67379379 |
| 42 | Hyperphosphaturia (HP:0003109) | 2.64803870 |
| 43 | Abnormality of cells of the erythroid lineage (HP:0012130) | 2.61651964 |
| 44 | Pancreatic fibrosis (HP:0100732) | 2.58384874 |
| 45 | Pancreatic cysts (HP:0001737) | 2.56745646 |
| 46 | True hermaphroditism (HP:0010459) | 2.43287152 |
| 47 | Type I transferrin isoform profile (HP:0003642) | 2.39669421 |
| 48 | Palpitations (HP:0001962) | 2.35870011 |
| 49 | Conjunctival hamartoma (HP:0100780) | 2.35672848 |
| 50 | Parakeratosis (HP:0001036) | 2.35467532 |
| 51 | Molar tooth sign on MRI (HP:0002419) | 2.34505795 |
| 52 | Abnormality of midbrain morphology (HP:0002418) | 2.34505795 |
| 53 | Abnormal pupillary function (HP:0007686) | 2.31627561 |
| 54 | * Lethargy (HP:0001254) | 2.28092978 |
| 55 | Abnormal number of erythroid precursors (HP:0012131) | 2.23879255 |
| 56 | Aplastic anemia (HP:0001915) | 2.21822517 |
| 57 | Abnormal urine phosphate concentration (HP:0012599) | 2.19125331 |
| 58 | CNS demyelination (HP:0007305) | 2.17291542 |
| 59 | Pallor (HP:0000980) | 2.16738497 |
| 60 | Sudden death (HP:0001699) | 2.15010372 |
| 61 | Focal motor seizures (HP:0011153) | 2.13281423 |
| 62 | Renal tubular dysfunction (HP:0000124) | 2.12167323 |
| 63 | Medial flaring of the eyebrow (HP:0010747) | 2.08676856 |
| 64 | Abnormality of aromatic amino acid family metabolism (HP:0004338) | 2.08255107 |
| 65 | Cerebral hemorrhage (HP:0001342) | 2.07572110 |
| 66 | Sclerocornea (HP:0000647) | 2.05226479 |
| 67 | Limb dystonia (HP:0002451) | 1.98844627 |
| 68 | Abnormal ciliary motility (HP:0012262) | 1.98442615 |
| 69 | Generalized aminoaciduria (HP:0002909) | 1.98042298 |
| 70 | Methylmalonic aciduria (HP:0012120) | 1.95871812 |
| 71 | Nephronophthisis (HP:0000090) | 1.95175935 |
| 72 | Methylmalonic acidemia (HP:0002912) | 1.92686918 |
| 73 | Emotional lability (HP:0000712) | 1.92191390 |
| 74 | Congenital primary aphakia (HP:0007707) | 1.90217489 |
| 75 | Congenital ichthyosiform erythroderma (HP:0007431) | 1.90161846 |
| 76 | Gait imbalance (HP:0002141) | 1.87962583 |
| 77 | Ketoacidosis (HP:0001993) | 1.87402563 |
| 78 | * Vomiting (HP:0002013) | 1.83434009 |
| 79 | Anxiety (HP:0000739) | 1.80944451 |
| 80 | Degeneration of anterior horn cells (HP:0002398) | 1.80586260 |
| 81 | Abnormality of the anterior horn cell (HP:0006802) | 1.80586260 |
| 82 | Abnormality of dicarboxylic acid metabolism (HP:0010995) | 1.79925181 |
| 83 | Dicarboxylic aciduria (HP:0003215) | 1.79925181 |
| 84 | Oral leukoplakia (HP:0002745) | 1.77481348 |
| 85 | Nuclear cataract (HP:0100018) | 1.77178935 |
| 86 | Pancytopenia (HP:0001876) | 1.76969895 |
| 87 | Abnormality of the calf musculature (HP:0001430) | 1.76943567 |
| 88 | Male pseudohermaphroditism (HP:0000037) | 1.75359162 |
| 89 | Nausea (HP:0002018) | 1.75338019 |
| 90 | Abnormal respiratory motile cilium morphology (HP:0005938) | 1.73765536 |
| 91 | Abnormal respiratory epithelium morphology (HP:0012253) | 1.73765536 |
| 92 | Progressive inability to walk (HP:0002505) | 1.73764444 |
| 93 | Abnormal hemoglobin (HP:0011902) | 1.73720702 |
| 94 | Large for gestational age (HP:0001520) | 1.72709931 |
| 95 | Myokymia (HP:0002411) | 1.72414455 |
| 96 | Nephrogenic diabetes insipidus (HP:0009806) | 1.71369848 |
| 97 | Abnormal protein N-linked glycosylation (HP:0012347) | 1.69503771 |
| 98 | Abnormal protein glycosylation (HP:0012346) | 1.69503771 |
| 99 | Abnormal glycosylation (HP:0012345) | 1.69503771 |
| 100 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 1.69503771 |
| 101 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 1.68428765 |
| 102 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 1.67696310 |
| 103 | Prolonged QT interval (HP:0001657) | 1.67518998 |
| 104 | Macrocytic anemia (HP:0001972) | 1.67457361 |
| 105 | Poor suck (HP:0002033) | 1.67167985 |
| 106 | Gliosis (HP:0002171) | 1.66700936 |
| 107 | Aplasia/hypoplasia of the uterus (HP:0008684) | 1.66074689 |
| 108 | Renal cortical cysts (HP:0000803) | 1.64012158 |
| 109 | Neoplasm of head and neck (HP:0012288) | 1.62385614 |
| 110 | Esophageal neoplasm (HP:0100751) | 1.62385614 |
| 111 | Hyperventilation (HP:0002883) | 1.62230761 |
| 112 | Exercise-induced myalgia (HP:0003738) | 1.62022769 |
| 113 | Hyperglycinemia (HP:0002154) | 1.62018908 |
| 114 | Congenital stationary night blindness (HP:0007642) | 1.61935708 |
| 115 | Zonular cataract (HP:0010920) | 1.60142710 |
| 116 | Syncope (HP:0001279) | 1.59935507 |
| 117 | Tinnitus (HP:0000360) | 1.59780550 |
| 118 | Abnormality of the renal cortex (HP:0011035) | 1.59274719 |
| 119 | Left ventricular hypertrophy (HP:0001712) | 1.59177086 |
| 120 | Ragged-red muscle fibers (HP:0003200) | 1.58464468 |
| 121 | Type 2 muscle fiber atrophy (HP:0003554) | 1.58136313 |
| 122 | Metabolic acidosis (HP:0001942) | 1.57816860 |
| 123 | Abnormality of vitamin B metabolism (HP:0004340) | 1.56767914 |
| 124 | Atonic seizures (HP:0010819) | 1.55786357 |
| 125 | Abnormal respiratory motile cilium physiology (HP:0012261) | 1.54706464 |
| 126 | Abnormality of placental membranes (HP:0011409) | 1.54551111 |
| 127 | Amniotic constriction ring (HP:0009775) | 1.54551111 |
| 128 | Absence seizures (HP:0002121) | 1.53712990 |
| 129 | Furrowed tongue (HP:0000221) | 1.53634785 |
| 130 | Vaginal atresia (HP:0000148) | 1.53587514 |
| 131 | Delayed CNS myelination (HP:0002188) | 1.53232092 |
| 132 | Hyperalaninemia (HP:0003348) | 1.51725304 |
| 133 | Retinal dysplasia (HP:0007973) | 1.51634666 |
| 134 | Genital tract atresia (HP:0001827) | 1.50454532 |
| 135 | * Blindness (HP:0000618) | 1.50243045 |
| 136 | Delayed gross motor development (HP:0002194) | 1.49992850 |
| 137 | Abnormal hair whorl (HP:0010721) | 1.49319128 |
| 138 | Abnormality of the vocal cords (HP:0008777) | 1.49297971 |
| 139 | Hypoglycemic coma (HP:0001325) | 1.48868523 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | VRK2 | 4.83067960 |
| 2 | MAP3K12 | 3.56414913 |
| 3 | NME1 | 3.22381410 |
| 4 | MYLK | 3.16516717 |
| 5 | NME2 | 3.03854273 |
| 6 | CASK | 2.53603669 |
| 7 | ARAF | 2.48054757 |
| 8 | GRK7 | 2.45547966 |
| 9 | MST4 | 2.39025398 |
| 10 | STK16 | 2.20379387 |
| 11 | MUSK | 2.18425816 |
| 12 | BUB1 | 2.17076571 |
| 13 | ZAK | 2.15798122 |
| 14 | WNK4 | 2.04031114 |
| 15 | MAP2K7 | 1.99896393 |
| 16 | ADRBK2 | 1.90587218 |
| 17 | OBSCN | 1.86458193 |
| 18 | MAP4K2 | 1.86323968 |
| 19 | BMPR2 | 1.85080043 |
| 20 | PNCK | 1.81000366 |
| 21 | STK39 | 1.80014312 |
| 22 | GRK5 | 1.79512739 |
| 23 | RIPK4 | 1.72565966 |
| 24 | PBK | 1.72214669 |
| 25 | NUAK1 | 1.67039786 |
| 26 | TAF1 | 1.66542306 |
| 27 | BMPR1B | 1.62776059 |
| 28 | MAPK15 | 1.43579989 |
| 29 | OXSR1 | 1.40955134 |
| 30 | NTRK3 | 1.39521239 |
| 31 | BCKDK | 1.35123368 |
| 32 | WNK3 | 1.34029876 |
| 33 | TNIK | 1.32276592 |
| 34 | BCR | 1.32005334 |
| 35 | EIF2AK1 | 1.21474728 |
| 36 | NEK1 | 1.19066241 |
| 37 | INSRR | 1.18133125 |
| 38 | PIK3CG | 1.16937690 |
| 39 | MAP3K4 | 1.15976727 |
| 40 | IRAK3 | 1.15808322 |
| 41 | TESK1 | 1.15403671 |
| 42 | CAMK2D | 1.15200386 |
| 43 | CAMK2A | 1.14486515 |
| 44 | MAPK13 | 1.11869749 |
| 45 | CDK19 | 1.11037372 |
| 46 | TRIM28 | 1.10996721 |
| 47 | PLK3 | 1.09067438 |
| 48 | CSNK1G2 | 1.08673069 |
| 49 | ADRBK1 | 1.04624698 |
| 50 | CDC7 | 1.04356481 |
| 51 | PRKCE | 1.01512338 |
| 52 | CAMK2B | 1.01406948 |
| 53 | WEE1 | 0.98666058 |
| 54 | PIK3CA | 0.98172510 |
| 55 | PHKG1 | 0.97883048 |
| 56 | PHKG2 | 0.97883048 |
| 57 | PLK2 | 0.97214070 |
| 58 | EPHA4 | 0.95812168 |
| 59 | VRK1 | 0.95751034 |
| 60 | CSNK1G1 | 0.94226411 |
| 61 | MAPKAPK5 | 0.94026909 |
| 62 | UHMK1 | 0.93846105 |
| 63 | ABL2 | 0.93651332 |
| 64 | MARK1 | 0.93382519 |
| 65 | LIMK1 | 0.92790364 |
| 66 | IRAK4 | 0.91689477 |
| 67 | BRAF | 0.87734534 |
| 68 | EIF2AK3 | 0.87452242 |
| 69 | MAP2K4 | 0.87014099 |
| 70 | DYRK2 | 0.84919216 |
| 71 | CAMK2G | 0.83410065 |
| 72 | SRPK1 | 0.83394588 |
| 73 | PINK1 | 0.79806957 |
| 74 | PIM2 | 0.79537460 |
| 75 | DYRK3 | 0.79428505 |
| 76 | PKN1 | 0.79241419 |
| 77 | PRKACA | 0.74632022 |
| 78 | FGR | 0.74481399 |
| 79 | PAK3 | 0.72950290 |
| 80 | CSNK1A1L | 0.72887524 |
| 81 | CCNB1 | 0.71985846 |
| 82 | KDR | 0.71971939 |
| 83 | DAPK3 | 0.71629363 |
| 84 | STK24 | 0.71487044 |
| 85 | CDK8 | 0.67926020 |
| 86 | CSNK2A2 | 0.66712609 |
| 87 | MST1R | 0.66163437 |
| 88 | ERBB3 | 0.65657318 |
| 89 | RPS6KA5 | 0.64469649 |
| 90 | PLK4 | 0.64424594 |
| 91 | TAOK3 | 0.61447944 |
| 92 | IRAK2 | 0.60915196 |
| 93 | CSNK2A1 | 0.60430019 |
| 94 | IRAK1 | 0.57820957 |
| 95 | FRK | 0.56369502 |
| 96 | CSNK1G3 | 0.56247442 |
| 97 | TESK2 | 0.56153764 |
| 98 | ILK | 0.55737876 |
| 99 | PDK4 | 0.53809823 |
| 100 | PDK3 | 0.53809823 |
| 101 | MAP2K6 | 0.53371141 |
| 102 | PDK2 | 0.52717860 |
| 103 | PRKCG | 0.51227623 |
| 104 | PLK1 | 0.51162886 |
| 105 | CHEK2 | 0.50553106 |
| 106 | NTRK2 | 0.50524714 |
| 107 | MINK1 | 0.49639403 |
| 108 | AURKA | 0.48437251 |
| 109 | PRKCQ | 0.46931997 |
| 110 | PTK2B | 0.46590361 |
| 111 | AURKB | 0.46414149 |
| 112 | CSNK1A1 | 0.45967741 |
| 113 | IKBKB | 0.45620488 |
| 114 | MAPK12 | 0.45609449 |
| 115 | TSSK6 | 0.45276796 |
| 116 | MAPKAPK3 | 0.44807288 |
| 117 | MAP3K14 | 0.44460316 |
| 118 | TLK1 | 0.44019608 |
| 119 | CDK5 | 0.43944375 |
| 120 | SYK | 0.43616485 |
| 121 | CAMKK2 | 0.43176270 |
| 122 | NTRK1 | 0.42992799 |
| 123 | TXK | 0.42824390 |
| 124 | EPHB2 | 0.42180194 |
| 125 | PRKCI | 0.40929375 |
| 126 | EIF2AK2 | 0.40511833 |
| 127 | STK4 | 0.40202634 |
| 128 | PASK | 0.40181290 |
| 129 | TEC | 0.38261476 |
| 130 | ROCK2 | 0.38147097 |
| 131 | MAP3K9 | 0.37428382 |
| 132 | MOS | 0.37376422 |
| 133 | PRKG1 | 0.37177887 |
| 134 | DAPK1 | 0.37169543 |
| 135 | MAPK4 | 0.36329137 |
| 136 | GRK1 | 0.36187520 |
| 137 | PRKCD | 0.36114436 |
| 138 | MAP3K13 | 0.35861898 |
| 139 | PRKCA | 0.35802405 |
| 140 | TNK2 | 0.35188701 |
| 141 | FES | 0.34479292 |
| 142 | YES1 | 0.33469572 |
| 143 | MAP3K2 | 0.32108213 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | * Oxidative phosphorylation_Homo sapiens_hsa00190 | 6.98880176 |
| 2 | Parkinsons disease_Homo sapiens_hsa05012 | 5.88419327 |
| 3 | Alzheimers disease_Homo sapiens_hsa05010 | 4.60260935 |
| 4 | Huntingtons disease_Homo sapiens_hsa05016 | 4.05821862 |
| 5 | * Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 3.88296995 |
| 6 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 3.27401509 |
| 7 | Protein export_Homo sapiens_hsa03060 | 3.08465723 |
| 8 | Ribosome_Homo sapiens_hsa03010 | 2.89831702 |
| 9 | Proteasome_Homo sapiens_hsa03050 | 2.28965911 |
| 10 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 2.20873047 |
| 11 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 2.07972654 |
| 12 | Sulfur metabolism_Homo sapiens_hsa00920 | 1.90245477 |
| 13 | Homologous recombination_Homo sapiens_hsa03440 | 1.61093492 |
| 14 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 1.51994673 |
| 15 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.48797256 |
| 16 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 1.43684083 |
| 17 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.42590900 |
| 18 | Mismatch repair_Homo sapiens_hsa03430 | 1.38554126 |
| 19 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.30773211 |
| 20 | Nicotine addiction_Homo sapiens_hsa05033 | 1.26401613 |
| 21 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.21992526 |
| 22 | RNA polymerase_Homo sapiens_hsa03020 | 1.16949633 |
| 23 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 1.13661260 |
| 24 | Basal transcription factors_Homo sapiens_hsa03022 | 1.04700947 |
| 25 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.04431860 |
| 26 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.02779858 |
| 27 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.01271582 |
| 28 | DNA replication_Homo sapiens_hsa03030 | 0.98674625 |
| 29 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.97485391 |
| 30 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.97223547 |
| 31 | Spliceosome_Homo sapiens_hsa03040 | 0.95674987 |
| 32 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.94733978 |
| 33 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.93289236 |
| 34 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.93279166 |
| 35 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.93039971 |
| 36 | RNA degradation_Homo sapiens_hsa03018 | 0.89849415 |
| 37 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.87996285 |
| 38 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.87680795 |
| 39 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.87183278 |
| 40 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.84893862 |
| 41 | Sulfur relay system_Homo sapiens_hsa04122 | 0.84712568 |
| 42 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.84556715 |
| 43 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.83752866 |
| 44 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.82093252 |
| 45 | Taste transduction_Homo sapiens_hsa04742 | 0.81982813 |
| 46 | * Metabolic pathways_Homo sapiens_hsa01100 | 0.81242432 |
| 47 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.80368762 |
| 48 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.79257199 |
| 49 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.77968130 |
| 50 | GABAergic synapse_Homo sapiens_hsa04727 | 0.74863608 |
| 51 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.67777251 |
| 52 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.64801880 |
| 53 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.63960814 |
| 54 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.61856600 |
| 55 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.60940918 |
| 56 | Phagosome_Homo sapiens_hsa04145 | 0.60784114 |
| 57 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.59380296 |
| 58 | Peroxisome_Homo sapiens_hsa04146 | 0.59283398 |
| 59 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.59113747 |
| 60 | Morphine addiction_Homo sapiens_hsa05032 | 0.58257723 |
| 61 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.57690672 |
| 62 | Mineral absorption_Homo sapiens_hsa04978 | 0.57361038 |
| 63 | Base excision repair_Homo sapiens_hsa03410 | 0.52961687 |
| 64 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.52104892 |
| 65 | Phototransduction_Homo sapiens_hsa04744 | 0.52049495 |
| 66 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.51509432 |
| 67 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.50680767 |
| 68 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.50268210 |
| 69 | Histidine metabolism_Homo sapiens_hsa00340 | 0.49631182 |
| 70 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.48760586 |
| 71 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.48649196 |
| 72 | Allograft rejection_Homo sapiens_hsa05330 | 0.48104292 |
| 73 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.47781266 |
| 74 | Carbon metabolism_Homo sapiens_hsa01200 | 0.47614506 |
| 75 | RNA transport_Homo sapiens_hsa03013 | 0.47562612 |
| 76 | Insulin secretion_Homo sapiens_hsa04911 | 0.45519679 |
| 77 | Circadian entrainment_Homo sapiens_hsa04713 | 0.45152032 |
| 78 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.43718286 |
| 79 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.43539234 |
| 80 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.43294275 |
| 81 | Retinol metabolism_Homo sapiens_hsa00830 | 0.43208435 |
| 82 | Cocaine addiction_Homo sapiens_hsa05030 | 0.42800786 |
| 83 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.41297507 |
| 84 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.41068180 |
| 85 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.41011593 |
| 86 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.40915345 |
| 87 | African trypanosomiasis_Homo sapiens_hsa05143 | 0.40425812 |
| 88 | Asthma_Homo sapiens_hsa05310 | 0.40401717 |
| 89 | Renin secretion_Homo sapiens_hsa04924 | 0.40238643 |
| 90 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.39778312 |
| 91 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 0.39365730 |
| 92 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 0.39054231 |
| 93 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.39042627 |
| 94 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.38480524 |
| 95 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.38119457 |
| 96 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.37407204 |
| 97 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.37276203 |
| 98 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.37188582 |
| 99 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 0.36815496 |
| 100 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.33773914 |
| 101 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.33166939 |
| 102 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.32728127 |
| 103 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.32389876 |
| 104 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.31896063 |
| 105 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.31746778 |
| 106 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.31313167 |
| 107 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.31260206 |
| 108 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.30852719 |
| 109 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.29359107 |
| 110 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.29197983 |
| 111 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.29102974 |
| 112 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.28844741 |
| 113 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.28516392 |
| 114 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.28435660 |
| 115 | Long-term depression_Homo sapiens_hsa04730 | 0.26765933 |
| 116 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.26367733 |
| 117 | Purine metabolism_Homo sapiens_hsa00230 | 0.26326583 |
| 118 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.25845735 |
| 119 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.25808210 |
| 120 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.25774616 |
| 121 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.25747038 |
| 122 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.25639841 |
| 123 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.24272777 |
| 124 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.23277999 |
| 125 | Salivary secretion_Homo sapiens_hsa04970 | 0.21489958 |
| 126 | Long-term potentiation_Homo sapiens_hsa04720 | 0.19540981 |
| 127 | Olfactory transduction_Homo sapiens_hsa04740 | 0.19312479 |
| 128 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.18695185 |
| 129 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.18016862 |
| 130 | Other glycan degradation_Homo sapiens_hsa00511 | 0.17279897 |
| 131 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.16927047 |
| 132 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.15950517 |
| 133 | Prion diseases_Homo sapiens_hsa05020 | 0.14442065 |

