

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 5.58488699 |
| 2 | ATP synthesis coupled proton transport (GO:0015986) | 5.19436427 |
| 3 | energy coupled proton transport, down electrochemical gradient (GO:0015985) | 5.19436427 |
| 4 | proteasome assembly (GO:0043248) | 5.01913431 |
| 5 | mitochondrial electron transport, NADH to ubiquinone (GO:0006120) | 4.83945491 |
| 6 | mitochondrial respiratory chain complex I biogenesis (GO:0097031) | 4.71053031 |
| 7 | mitochondrial respiratory chain complex I assembly (GO:0032981) | 4.71053031 |
| 8 | NADH dehydrogenase complex assembly (GO:0010257) | 4.71053031 |
| 9 | cullin deneddylation (GO:0010388) | 4.60422856 |
| 10 | protein neddylation (GO:0045116) | 4.57538474 |
| 11 | protein complex biogenesis (GO:0070271) | 4.49277008 |
| 12 | chaperone-mediated protein transport (GO:0072321) | 4.43303999 |
| 13 | DNA double-strand break processing (GO:0000729) | 4.22245068 |
| 14 | protein deneddylation (GO:0000338) | 4.20173952 |
| 15 | respiratory electron transport chain (GO:0022904) | 4.04804681 |
| 16 | mitochondrial respiratory chain complex assembly (GO:0033108) | 3.98914669 |
| 17 | electron transport chain (GO:0022900) | 3.95964681 |
| 18 | establishment of protein localization to mitochondrial membrane (GO:0090151) | 3.77971279 |
| 19 | 7-methylguanosine mRNA capping (GO:0006370) | 3.77765627 |
| 20 | 7-methylguanosine RNA capping (GO:0009452) | 3.73586645 |
| 21 | RNA capping (GO:0036260) | 3.73586645 |
| 22 | termination of RNA polymerase III transcription (GO:0006386) | 3.67287482 |
| 23 | transcription elongation from RNA polymerase III promoter (GO:0006385) | 3.67287482 |
| 24 | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436) | 3.60558962 |
| 25 | positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437) | 3.46731779 |
| 26 | L-methionine biosynthetic process from methylthioadenosine (GO:0019509) | 3.43706538 |
| 27 | protein-cofactor linkage (GO:0018065) | 3.42233225 |
| 28 | neuron cell-cell adhesion (GO:0007158) | 3.39632735 |
| 29 | regulation of cellular amino acid metabolic process (GO:0006521) | 3.38827079 |
| 30 | negative regulation of synaptic transmission, GABAergic (GO:0032229) | 3.38100488 |
| 31 | presynaptic membrane assembly (GO:0097105) | 3.38057366 |
| 32 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) | 3.36067832 |
| 33 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0 | 3.32933793 |
| 34 | centriole replication (GO:0007099) | 3.29767713 |
| 35 | presynaptic membrane organization (GO:0097090) | 3.26731456 |
| 36 | negative regulation of ligase activity (GO:0051352) | 3.26110139 |
| 37 | negative regulation of ubiquitin-protein transferase activity (GO:0051444) | 3.26110139 |
| 38 | positive regulation of mitochondrial fission (GO:0090141) | 3.18748465 |
| 39 | resolution of meiotic recombination intermediates (GO:0000712) | 3.18194752 |
| 40 | protein targeting to mitochondrion (GO:0006626) | 3.16755314 |
| 41 | microtubule depolymerization (GO:0007019) | 3.16030580 |
| 42 | establishment of integrated proviral latency (GO:0075713) | 3.14533837 |
| 43 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00 | 3.11913853 |
| 44 | histone exchange (GO:0043486) | 3.11754522 |
| 45 | transcription elongation from RNA polymerase I promoter (GO:0006362) | 3.09837851 |
| 46 | establishment of protein localization to mitochondrion (GO:0072655) | 3.09540971 |
| 47 | intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400) | 3.07618910 |
| 48 | signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431) | 3.07618910 |
| 49 | rRNA modification (GO:0000154) | 3.06857934 |
| 50 | signal transduction involved in mitotic DNA damage checkpoint (GO:1902402) | 3.06319159 |
| 51 | signal transduction involved in mitotic cell cycle checkpoint (GO:0072413) | 3.06319159 |
| 52 | signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403) | 3.06319159 |
| 53 | CENP-A containing nucleosome assembly (GO:0034080) | 3.02475704 |
| 54 | GTP biosynthetic process (GO:0006183) | 3.01823124 |
| 55 | epithelial cilium movement (GO:0003351) | 3.00415659 |
| 56 | positive regulation of ubiquitin-protein transferase activity (GO:0051443) | 2.98778233 |
| 57 | negative regulation of DNA-dependent DNA replication (GO:2000104) | 2.97981755 |
| 58 | nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291) | 2.97783465 |
| 59 | regulation of mitotic spindle checkpoint (GO:1903504) | 2.96380525 |
| 60 | regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266) | 2.96380525 |
| 61 | signal transduction involved in DNA integrity checkpoint (GO:0072401) | 2.96365026 |
| 62 | signal transduction involved in DNA damage checkpoint (GO:0072422) | 2.96365026 |
| 63 | L-methionine salvage (GO:0071267) | 2.95184909 |
| 64 | L-methionine biosynthetic process (GO:0071265) | 2.95184909 |
| 65 | amino acid salvage (GO:0043102) | 2.95184909 |
| 66 | signal transduction involved in cell cycle checkpoint (GO:0072395) | 2.95116540 |
| 67 | platelet dense granule organization (GO:0060155) | 2.95033592 |
| 68 | purine nucleobase biosynthetic process (GO:0009113) | 2.94874313 |
| 69 | guanosine-containing compound biosynthetic process (GO:1901070) | 2.94193423 |
| 70 | regulation of mitochondrial translation (GO:0070129) | 2.92294027 |
| 71 | respiratory chain complex IV assembly (GO:0008535) | 2.91590691 |
| 72 | DNA deamination (GO:0045006) | 2.90549655 |
| 73 | organelle disassembly (GO:1903008) | 2.90457191 |
| 74 | deoxyribonucleoside triphosphate metabolic process (GO:0009200) | 2.89624578 |
| 75 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 2.89012157 |
| 76 | termination of RNA polymerase I transcription (GO:0006363) | 2.88113142 |
| 77 | positive regulation of ligase activity (GO:0051351) | 2.87814781 |
| 78 | protein localization to mitochondrion (GO:0070585) | 2.87516770 |
| 79 | response to pheromone (GO:0019236) | 2.87391989 |
| 80 | nonmotile primary cilium assembly (GO:0035058) | 2.87199751 |
| 81 | nucleobase biosynthetic process (GO:0046112) | 2.86647164 |
| 82 | chromatin remodeling at centromere (GO:0031055) | 2.86329640 |
| 83 | behavioral response to nicotine (GO:0035095) | 2.83718696 |
| 84 | ribonucleoprotein complex disassembly (GO:0032988) | 2.82859570 |
| 85 | maturation of 5.8S rRNA (GO:0000460) | 2.81771791 |
| 86 | GMP metabolic process (GO:0046037) | 2.80262202 |
| 87 | establishment of viral latency (GO:0019043) | 2.80085249 |
| 88 | 2-deoxyribonucleotide biosynthetic process (GO:0009265) | 2.78754822 |
| 89 | deoxyribose phosphate biosynthetic process (GO:0046385) | 2.78754822 |
| 90 | dopamine transport (GO:0015872) | 2.77298082 |
| 91 | tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) | 2.76793953 |
| 92 | RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394) | 2.76793953 |
| 93 | microtubule polymerization or depolymerization (GO:0031109) | 2.76718083 |
| 94 | regulation of cilium movement (GO:0003352) | 2.76203292 |
| 95 | deoxyribonucleoside diphosphate metabolic process (GO:0009186) | 2.76046811 |
| 96 | regulation of cellular amine metabolic process (GO:0033238) | 2.75465056 |
| 97 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 2.75097464 |
| 98 | rRNA methylation (GO:0031167) | 2.74145597 |
| 99 | histone mRNA metabolic process (GO:0008334) | 2.74091358 |
| 100 | DNA ligation (GO:0006266) | 2.73754426 |
| 101 | purine nucleoside triphosphate biosynthetic process (GO:0009145) | 2.73550703 |
| 102 | purine ribonucleoside triphosphate biosynthetic process (GO:0009206) | 2.73448310 |
| 103 | intraciliary transport (GO:0042073) | 2.72498419 |
| 104 | replication fork processing (GO:0031297) | 2.71825121 |
| 105 | somite rostral/caudal axis specification (GO:0032525) | 2.71558929 |
| 106 | fatty acid elongation (GO:0030497) | 2.71486968 |
| 107 | positive regulation of protein homodimerization activity (GO:0090073) | 2.71313346 |
| 108 | mitotic metaphase plate congression (GO:0007080) | 2.71268141 |
| 109 | deoxyribonucleotide biosynthetic process (GO:0009263) | 2.71173202 |
| 110 | oxidative phosphorylation (GO:0006119) | 2.68738865 |
| 111 | metallo-sulfur cluster assembly (GO:0031163) | 2.68477115 |
| 112 | iron-sulfur cluster assembly (GO:0016226) | 2.68477115 |
| 113 | neurotransmitter uptake (GO:0001504) | 2.67904155 |
| 114 | protein localization to cilium (GO:0061512) | 2.67864954 |
| 115 | maturation of SSU-rRNA (GO:0030490) | 2.67675840 |
| 116 | pyrimidine nucleobase catabolic process (GO:0006208) | 2.67588001 |
| 117 | long-chain fatty acid biosynthetic process (GO:0042759) | 2.67187265 |
| 118 | detection of mechanical stimulus involved in sensory perception of sound (GO:0050910) | 2.66722368 |
| 119 | protein K11-linked ubiquitination (GO:0070979) | 2.65809305 |
| 120 | positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110 | 2.65540881 |
| 121 | mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686) | 2.65540881 |
| 122 | ATP biosynthetic process (GO:0006754) | 2.65341220 |
| 123 | transcription from RNA polymerase I promoter (GO:0006360) | 2.63864799 |
| 124 | DNA damage response, detection of DNA damage (GO:0042769) | 2.63862388 |
| 125 | DNA replication-independent nucleosome assembly (GO:0006336) | 2.63546711 |
| 126 | DNA replication-independent nucleosome organization (GO:0034724) | 2.63546711 |
| 127 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO: | 2.63055185 |
| 128 | peptidyl-histidine modification (GO:0018202) | 2.62964249 |
| 129 | aerobic respiration (GO:0009060) | 2.62152337 |
| 130 | cytochrome complex assembly (GO:0017004) | 2.61062869 |
| 131 | behavioral response to ethanol (GO:0048149) | 2.59685766 |
| 132 | RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503) | 2.59515323 |
| 133 | anterograde synaptic vesicle transport (GO:0048490) | 2.58963947 |
| 134 | spliceosomal snRNP assembly (GO:0000387) | 2.58706668 |
| 135 | axoneme assembly (GO:0035082) | 2.58574252 |
| 136 | piRNA metabolic process (GO:0034587) | 2.57406615 |
| 137 | regulation of centriole replication (GO:0046599) | 2.57228579 |
| 138 | recombinational repair (GO:0000725) | 2.57158970 |
| 139 | DNA catabolic process, exonucleolytic (GO:0000738) | 2.55473310 |
| 140 | inner mitochondrial membrane organization (GO:0007007) | 2.54961273 |
| 141 | double-strand break repair via homologous recombination (GO:0000724) | 2.54080854 |
| 142 | cilium movement (GO:0003341) | 2.50543087 |
| 143 | retinal ganglion cell axon guidance (GO:0031290) | 2.49787945 |
| 144 | single strand break repair (GO:0000012) | 2.47160624 |
| 145 | GPI anchor metabolic process (GO:0006505) | 2.46589973 |
| 146 | mannosylation (GO:0097502) | 2.45883704 |
| 147 | water-soluble vitamin biosynthetic process (GO:0042364) | 2.45841070 |
| 148 | gamma-aminobutyric acid transport (GO:0015812) | 2.45452604 |
| 149 | intracellular protein transmembrane import (GO:0044743) | 2.45298381 |
| 150 | kinetochore organization (GO:0051383) | 2.44291169 |
| 151 | cilium organization (GO:0044782) | 2.44204263 |
| 152 | cilium morphogenesis (GO:0060271) | 2.43657034 |
| 153 | synapsis (GO:0007129) | 2.42950415 |
| 154 | cilium assembly (GO:0042384) | 2.42327825 |
| 155 | histone H2A acetylation (GO:0043968) | 2.41941776 |
| 156 | DNA integration (GO:0015074) | 2.41600055 |
| 157 | regulation of DNA endoreduplication (GO:0032875) | 2.40323120 |
| 158 | kinetochore assembly (GO:0051382) | 2.39267166 |
| 159 | nucleobase catabolic process (GO:0046113) | 2.36674113 |
| 160 | regulation of nuclear cell cycle DNA replication (GO:0033262) | 2.36022285 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 4.28355719 |
| 2 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 3.62462077 |
| 3 | * GABP_17652178_ChIP-ChIP_JURKAT_Human | 3.34654853 |
| 4 | * EST1_17652178_ChIP-ChIP_JURKAT_Human | 3.19531096 |
| 5 | ZNF274_21170338_ChIP-Seq_K562_Hela | 3.12819939 |
| 6 | * JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 3.03604766 |
| 7 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 2.82579134 |
| 8 | * HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 2.81558077 |
| 9 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 2.80476900 |
| 10 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 2.74598263 |
| 11 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 2.60113443 |
| 12 | TAF15_26573619_Chip-Seq_HEK293_Human | 2.60051525 |
| 13 | * ETS1_20019798_ChIP-Seq_JURKAT_Human | 2.58497354 |
| 14 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 2.50027657 |
| 15 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 2.45697312 |
| 16 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.44606300 |
| 17 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 2.44167431 |
| 18 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.31438328 |
| 19 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 2.28001810 |
| 20 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 2.20486900 |
| 21 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 2.15562209 |
| 22 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 2.14864031 |
| 23 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 2.08267927 |
| 24 | FUS_26573619_Chip-Seq_HEK293_Human | 2.08148190 |
| 25 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 2.04236560 |
| 26 | * SRF_21415370_ChIP-Seq_HL-1_Mouse | 1.97159404 |
| 27 | * VDR_23849224_ChIP-Seq_CD4+_Human | 1.93882165 |
| 28 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 1.87641813 |
| 29 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.86777924 |
| 30 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.82500939 |
| 31 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.81667581 |
| 32 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.77275735 |
| 33 | * ELK1_19687146_ChIP-ChIP_HELA_Human | 1.74827570 |
| 34 | * MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.73631881 |
| 35 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.64585810 |
| 36 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.64366960 |
| 37 | FOXP3_21729870_ChIP-Seq_TREG_Human | 1.63233243 |
| 38 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.62249374 |
| 39 | * MYC_19030024_ChIP-ChIP_MESCs_Mouse | 1.61364058 |
| 40 | EWS_26573619_Chip-Seq_HEK293_Human | 1.60983232 |
| 41 | YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.60198626 |
| 42 | * ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.59113573 |
| 43 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.58682268 |
| 44 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.58057228 |
| 45 | VDR_22108803_ChIP-Seq_LS180_Human | 1.55711808 |
| 46 | FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 1.53835990 |
| 47 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.50447310 |
| 48 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.49615661 |
| 49 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.48115187 |
| 50 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.47202595 |
| 51 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.45008377 |
| 52 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.44566639 |
| 53 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.42221005 |
| 54 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 1.41931942 |
| 55 | E2F7_22180533_ChIP-Seq_HELA_Human | 1.40685149 |
| 56 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.40196056 |
| 57 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.40196056 |
| 58 | * E2F1_18555785_ChIP-Seq_MESCs_Mouse | 1.38758968 |
| 59 | P300_19829295_ChIP-Seq_ESCs_Human | 1.30587541 |
| 60 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.29208034 |
| 61 | PADI4_21655091_ChIP-ChIP_MCF-7_Human | 1.27508467 |
| 62 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.26862536 |
| 63 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.26756660 |
| 64 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.26218935 |
| 65 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.25761298 |
| 66 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.23721719 |
| 67 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.23611298 |
| 68 | FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse | 1.23340721 |
| 69 | HOXB4_20404135_ChIP-ChIP_EML_Mouse | 1.22500808 |
| 70 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 1.22368189 |
| 71 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.21176997 |
| 72 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.20433277 |
| 73 | GABP_19822575_ChIP-Seq_HepG2_Human | 1.20362462 |
| 74 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.20299422 |
| 75 | * SMAD4_21799915_ChIP-Seq_A2780_Human | 1.18298200 |
| 76 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 1.18046387 |
| 77 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.18042945 |
| 78 | KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 1.17583485 |
| 79 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.17575276 |
| 80 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.17480506 |
| 81 | * KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.16987703 |
| 82 | CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons | 1.16812189 |
| 83 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.16687125 |
| 84 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.16465647 |
| 85 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.16289380 |
| 86 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.16244776 |
| 87 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.16244776 |
| 88 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.15716304 |
| 89 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 1.14746203 |
| 90 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.13822998 |
| 91 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.12797530 |
| 92 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 1.12630242 |
| 93 | NOTCH1_21737748_ChIP-Seq_TLL_Human | 1.11956689 |
| 94 | HTT_18923047_ChIP-ChIP_STHdh_Human | 1.10368644 |
| 95 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.09663342 |
| 96 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.09403665 |
| 97 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 1.08773861 |
| 98 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.08645635 |
| 99 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.08343877 |
| 100 | AR_25329375_ChIP-Seq_VCAP_Human | 1.07568143 |
| 101 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.07492021 |
| 102 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.07345256 |
| 103 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.07345256 |
| 104 | XRN2_22483619_ChIP-Seq_HELA_Human | 1.07187203 |
| 105 | * ASH2L_23239880_ChIP-Seq_MESCs_Mouse | 1.06290143 |
| 106 | SOX2_16153702_ChIP-ChIP_HESCs_Human | 1.05979823 |
| 107 | * ELF1_17652178_ChIP-ChIP_JURKAT_Human | 1.05876037 |
| 108 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.05583218 |
| 109 | * SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.05512336 |
| 110 | JUN_21703547_ChIP-Seq_K562_Human | 1.05182108 |
| 111 | CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse | 1.04508196 |
| 112 | STAT3_23295773_ChIP-Seq_U87_Human | 1.04489590 |
| 113 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.03035512 |
| 114 | OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.02108553 |
| 115 | * FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.01573220 |
| 116 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.01329793 |
| 117 | TCF4_23295773_ChIP-Seq_U87_Human | 1.01234568 |
| 118 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.99805056 |
| 119 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 0.99805056 |
| 120 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 0.98991953 |
| 121 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 0.98881678 |
| 122 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 0.96735860 |
| 123 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 0.96236955 |
| 124 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 0.96024528 |
| 125 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 0.95874747 |
| 126 | P300_18555785_Chip-Seq_ESCs_Mouse | 0.94751334 |
| 127 | POU5F1_18358816_ChIP-ChIP_MESCs_Mouse | 0.94284210 |
| 128 | EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 0.93466168 |
| 129 | E2F1_18555785_Chip-Seq_ESCs_Mouse | 0.93392660 |
| 130 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 0.93378273 |
| 131 | P53_22387025_ChIP-Seq_ESCs_Mouse | 0.92639787 |
| 132 | RUNX1_27457419_Chip-Seq_LIVER_Mouse | 0.92166641 |
| 133 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 0.92086510 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003880_abnormal_central_pattern | 4.24942332 |
| 2 | MP0001529_abnormal_vocalization | 3.41512299 |
| 3 | MP0002736_abnormal_nociception_after | 2.77381724 |
| 4 | MP0001968_abnormal_touch/_nociception | 2.66143693 |
| 5 | MP0001905_abnormal_dopamine_level | 2.59086027 |
| 6 | MP0001986_abnormal_taste_sensitivity | 2.49245919 |
| 7 | MP0001188_hyperpigmentation | 2.42664461 |
| 8 | MP0006072_abnormal_retinal_apoptosis | 2.35792066 |
| 9 | MP0003890_abnormal_embryonic-extraembry | 2.27282422 |
| 10 | MP0009046_muscle_twitch | 2.25171336 |
| 11 | MP0002735_abnormal_chemical_nociception | 2.24242031 |
| 12 | MP0005423_abnormal_somatic_nervous | 2.17542904 |
| 13 | MP0002272_abnormal_nervous_system | 2.16754802 |
| 14 | MP0008877_abnormal_DNA_methylation | 2.16170253 |
| 15 | MP0009745_abnormal_behavioral_response | 2.13675445 |
| 16 | MP0006276_abnormal_autonomic_nervous | 2.13663969 |
| 17 | MP0009697_abnormal_copulation | 2.08703191 |
| 18 | MP0003806_abnormal_nucleotide_metabolis | 2.07482673 |
| 19 | MP0008058_abnormal_DNA_repair | 2.06107867 |
| 20 | MP0004142_abnormal_muscle_tone | 2.05311162 |
| 21 | MP0003718_maternal_effect | 1.99790323 |
| 22 | MP0003635_abnormal_synaptic_transmissio | 1.99263713 |
| 23 | MP0002064_seizures | 1.99026173 |
| 24 | MP0006292_abnormal_olfactory_placode | 1.96373228 |
| 25 | MP0004270_analgesia | 1.95936393 |
| 26 | MP0003136_yellow_coat_color | 1.87208327 |
| 27 | MP0002734_abnormal_mechanical_nocicepti | 1.86500617 |
| 28 | MP0000516_abnormal_urinary_system | 1.84931355 |
| 29 | MP0005367_renal/urinary_system_phenotyp | 1.84931355 |
| 30 | MP0002572_abnormal_emotion/affect_behav | 1.81911550 |
| 31 | MP0008057_abnormal_DNA_replication | 1.80085378 |
| 32 | MP0001440_abnormal_grooming_behavior | 1.74641044 |
| 33 | MP0002876_abnormal_thyroid_physiology | 1.69996105 |
| 34 | MP0001486_abnormal_startle_reflex | 1.66074928 |
| 35 | MP0000569_abnormal_digit_pigmentation | 1.63825294 |
| 36 | MP0002063_abnormal_learning/memory/cond | 1.61980985 |
| 37 | MP0002067_abnormal_sensory_capabilities | 1.56721999 |
| 38 | MP0005551_abnormal_eye_electrophysiolog | 1.54695527 |
| 39 | MP0010094_abnormal_chromosome_stability | 1.53964288 |
| 40 | MP0003011_delayed_dark_adaptation | 1.53746890 |
| 41 | MP0004957_abnormal_blastocyst_morpholog | 1.53074756 |
| 42 | MP0002837_dystrophic_cardiac_calcinosis | 1.51324382 |
| 43 | MP0001984_abnormal_olfaction | 1.49741309 |
| 44 | MP0003879_abnormal_hair_cell | 1.49183410 |
| 45 | MP0006035_abnormal_mitochondrial_morpho | 1.49067801 |
| 46 | MP0002234_abnormal_pharynx_morphology | 1.48863288 |
| 47 | MP0008260_abnormal_autophagy | 1.48396979 |
| 48 | MP0004147_increased_porphyrin_level | 1.47500403 |
| 49 | MP0006036_abnormal_mitochondrial_physio | 1.45755476 |
| 50 | MP0003121_genomic_imprinting | 1.44367427 |
| 51 | MP0003123_paternal_imprinting | 1.44009642 |
| 52 | MP0004133_heterotaxia | 1.43402423 |
| 53 | MP0009379_abnormal_foot_pigmentation | 1.41604347 |
| 54 | MP0004859_abnormal_synaptic_plasticity | 1.40719343 |
| 55 | MP0005386_behavior/neurological_phenoty | 1.39798945 |
| 56 | MP0004924_abnormal_behavior | 1.39798945 |
| 57 | MP0008789_abnormal_olfactory_epithelium | 1.39575793 |
| 58 | MP0002751_abnormal_autonomic_nervous | 1.36685395 |
| 59 | MP0002102_abnormal_ear_morphology | 1.35801202 |
| 60 | MP0000566_synostosis | 1.32183524 |
| 61 | MP0005645_abnormal_hypothalamus_physiol | 1.32133191 |
| 62 | MP0008932_abnormal_embryonic_tissue | 1.29686002 |
| 63 | MP0002638_abnormal_pupillary_reflex | 1.26478979 |
| 64 | MP0001970_abnormal_pain_threshold | 1.25306049 |
| 65 | MP0004885_abnormal_endolymph | 1.24103036 |
| 66 | MP0001764_abnormal_homeostasis | 1.23325723 |
| 67 | MP0003186_abnormal_redox_activity | 1.21715845 |
| 68 | MP0003693_abnormal_embryo_hatching | 1.20814379 |
| 69 | MP0002184_abnormal_innervation | 1.20744249 |
| 70 | MP0001963_abnormal_hearing_physiology | 1.19958508 |
| 71 | MP0005499_abnormal_olfactory_system | 1.18699244 |
| 72 | MP0005394_taste/olfaction_phenotype | 1.18699244 |
| 73 | MP0001485_abnormal_pinna_reflex | 1.18154407 |
| 74 | MP0002733_abnormal_thermal_nociception | 1.17213150 |
| 75 | MP0003122_maternal_imprinting | 1.15848211 |
| 76 | MP0008995_early_reproductive_senescence | 1.15113194 |
| 77 | MP0000778_abnormal_nervous_system | 1.13794497 |
| 78 | MP0003111_abnormal_nucleus_morphology | 1.09677514 |
| 79 | MP0003787_abnormal_imprinting | 1.09390149 |
| 80 | MP0008872_abnormal_physiological_respon | 1.07846909 |
| 81 | MP0000026_abnormal_inner_ear | 1.07747879 |
| 82 | MP0003567_abnormal_fetal_cardiomyocyte | 1.07614958 |
| 83 | MP0003938_abnormal_ear_development | 1.06980262 |
| 84 | MP0003195_calcinosis | 1.06484354 |
| 85 | MP0005410_abnormal_fertilization | 1.06338794 |
| 86 | MP0004215_abnormal_myocardial_fiber | 1.06168704 |
| 87 | MP0000647_abnormal_sebaceous_gland | 1.04993641 |
| 88 | MP0002653_abnormal_ependyma_morphology | 1.03465295 |
| 89 | MP0000631_abnormal_neuroendocrine_gland | 1.03091279 |
| 90 | MP0003950_abnormal_plasma_membrane | 1.02882986 |
| 91 | MP0002210_abnormal_sex_determination | 1.02664251 |
| 92 | MP0003119_abnormal_digestive_system | 1.02109750 |
| 93 | MP0002557_abnormal_social/conspecific_i | 1.02033328 |
| 94 | MP0003077_abnormal_cell_cycle | 1.01855672 |
| 95 | MP0003698_abnormal_male_reproductive | 1.01289401 |
| 96 | MP0005646_abnormal_pituitary_gland | 1.01215727 |
| 97 | MP0001929_abnormal_gametogenesis | 1.00654191 |
| 98 | MP0004742_abnormal_vestibular_system | 1.00184252 |
| 99 | MP0008007_abnormal_cellular_replicative | 0.99597256 |
| 100 | MP0001501_abnormal_sleep_pattern | 0.98311058 |
| 101 | MP0003786_premature_aging | 0.98280414 |
| 102 | MP0005171_absent_coat_pigmentation | 0.97888870 |
| 103 | MP0002752_abnormal_somatic_nervous | 0.96510678 |
| 104 | MP0002229_neurodegeneration | 0.96502920 |
| 105 | MP0003315_abnormal_perineum_morphology | 0.96269788 |
| 106 | MP0001293_anophthalmia | 0.95544448 |
| 107 | MP0002066_abnormal_motor_capabilities/c | 0.94668769 |
| 108 | MP0000920_abnormal_myelination | 0.91381414 |
| 109 | MP0005084_abnormal_gallbladder_morpholo | 0.90902097 |
| 110 | MP0002163_abnormal_gland_morphology | 0.89901919 |
| 111 | MP0002882_abnormal_neuron_morphology | 0.89599611 |
| 112 | MP0002095_abnormal_skin_pigmentation | 0.89582754 |
| 113 | MP0005187_abnormal_penis_morphology | 0.87272234 |
| 114 | MP0002938_white_spotting | 0.84940628 |
| 115 | MP0002282_abnormal_trachea_morphology | 0.84588186 |
| 116 | MP0005391_vision/eye_phenotype | 0.84323490 |
| 117 | MP0005195_abnormal_posterior_eye | 0.84056095 |
| 118 | MP0000015_abnormal_ear_pigmentation | 0.82945164 |
| 119 | MP0005409_darkened_coat_color | 0.82196111 |
| 120 | MP0004134_abnormal_chest_morphology | 0.79549692 |
| 121 | MP0002822_catalepsy | 0.79292159 |
| 122 | MP0001145_abnormal_male_reproductive | 0.78872571 |
| 123 | MP0000955_abnormal_spinal_cord | 0.78031722 |
| 124 | MP0003632_abnormal_nervous_system | 0.76891421 |
| 125 | MP0000653_abnormal_sex_gland | 0.75405005 |
| 126 | MP0002160_abnormal_reproductive_system | 0.75062715 |
| 127 | MP0004484_altered_response_of | 0.73842086 |
| 128 | MP0005253_abnormal_eye_physiology | 0.73658240 |
| 129 | MP0000372_irregular_coat_pigmentation | 0.73563757 |
| 130 | MP0001542_abnormal_bone_strength | 0.72672386 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Acute necrotizing encephalopathy (HP:0006965) | 5.37301617 |
| 2 | Abnormal mitochondria in muscle tissue (HP:0008316) | 4.81743500 |
| 3 | Mitochondrial inheritance (HP:0001427) | 4.66485888 |
| 4 | Progressive macrocephaly (HP:0004481) | 4.50766825 |
| 5 | Acute encephalopathy (HP:0006846) | 4.28457992 |
| 6 | Increased CSF lactate (HP:0002490) | 4.12423377 |
| 7 | Increased serum pyruvate (HP:0003542) | 3.84673394 |
| 8 | Abnormality of glycolysis (HP:0004366) | 3.84673394 |
| 9 | Hepatocellular necrosis (HP:0001404) | 3.78690360 |
| 10 | Increased hepatocellular lipid droplets (HP:0006565) | 3.68008796 |
| 11 | 3-Methylglutaconic aciduria (HP:0003535) | 3.64902189 |
| 12 | Pancreatic cysts (HP:0001737) | 3.35703318 |
| 13 | Abnormality of midbrain morphology (HP:0002418) | 3.30220347 |
| 14 | Molar tooth sign on MRI (HP:0002419) | 3.30220347 |
| 15 | Muscle abnormality related to mitochondrial dysfunction (HP:0003800) | 3.22337244 |
| 16 | Focal motor seizures (HP:0011153) | 3.19573586 |
| 17 | Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688) | 3.13450221 |
| 18 | Epileptic encephalopathy (HP:0200134) | 3.11802084 |
| 19 | Lipid accumulation in hepatocytes (HP:0006561) | 3.11323278 |
| 20 | Optic disc pallor (HP:0000543) | 3.05817028 |
| 21 | Renal Fanconi syndrome (HP:0001994) | 3.04135233 |
| 22 | Leukodystrophy (HP:0002415) | 2.93675605 |
| 23 | Cerebral edema (HP:0002181) | 2.93588099 |
| 24 | Medial flaring of the eyebrow (HP:0010747) | 2.91744047 |
| 25 | Birth length less than 3rd percentile (HP:0003561) | 2.90964043 |
| 26 | Hepatic necrosis (HP:0002605) | 2.90830000 |
| 27 | Cerebral hypomyelination (HP:0006808) | 2.89971445 |
| 28 | Gait imbalance (HP:0002141) | 2.89549195 |
| 29 | Nephronophthisis (HP:0000090) | 2.84464689 |
| 30 | Increased serum lactate (HP:0002151) | 2.82551710 |
| 31 | Exercise intolerance (HP:0003546) | 2.79763634 |
| 32 | Lactic acidosis (HP:0003128) | 2.79598110 |
| 33 | Congenital primary aphakia (HP:0007707) | 2.74062946 |
| 34 | Irregular epiphyses (HP:0010582) | 2.70970710 |
| 35 | Intestinal atresia (HP:0011100) | 2.69585449 |
| 36 | Atonic seizures (HP:0010819) | 2.69246347 |
| 37 | Delusions (HP:0000746) | 2.67927822 |
| 38 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 2.67016298 |
| 39 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 2.67016298 |
| 40 | Respiratory failure (HP:0002878) | 2.66430260 |
| 41 | Nephrogenic diabetes insipidus (HP:0009806) | 2.64192182 |
| 42 | Hyperventilation (HP:0002883) | 2.58580477 |
| 43 | Volvulus (HP:0002580) | 2.52363269 |
| 44 | Type II lissencephaly (HP:0007260) | 2.51290205 |
| 45 | Abnormal hair whorl (HP:0010721) | 2.41137076 |
| 46 | Increased intramyocellular lipid droplets (HP:0012240) | 2.39734848 |
| 47 | Abnormality of the labia minora (HP:0012880) | 2.39161206 |
| 48 | Abnormality of the renal medulla (HP:0100957) | 2.35084295 |
| 49 | Gonadotropin excess (HP:0000837) | 2.31216365 |
| 50 | Pancreatic fibrosis (HP:0100732) | 2.28651308 |
| 51 | Congenital nonbullous ichthyosiform erythroderma (HP:0007479) | 2.28597153 |
| 52 | Aplasia/Hypoplasia of the tibia (HP:0005772) | 2.28478223 |
| 53 | Short tibia (HP:0005736) | 2.27853589 |
| 54 | Median cleft lip (HP:0000161) | 2.26919777 |
| 55 | Lissencephaly (HP:0001339) | 2.26340985 |
| 56 | Genital tract atresia (HP:0001827) | 2.25370127 |
| 57 | Atrophy/Degeneration involving the corticospinal tracts (HP:0007372) | 2.25005665 |
| 58 | Degeneration of the lateral corticospinal tracts (HP:0002314) | 2.25005665 |
| 59 | Parakeratosis (HP:0001036) | 2.22856577 |
| 60 | CNS demyelination (HP:0007305) | 2.20354403 |
| 61 | Colon cancer (HP:0003003) | 2.19949152 |
| 62 | Abolished electroretinogram (ERG) (HP:0000550) | 2.19062082 |
| 63 | Respiratory difficulties (HP:0002880) | 2.18865841 |
| 64 | Abnormal lung lobation (HP:0002101) | 2.16561892 |
| 65 | Retinal dysplasia (HP:0007973) | 2.14703353 |
| 66 | Poor coordination (HP:0002370) | 2.14410441 |
| 67 | Abnormality of the heme biosynthetic pathway (HP:0010472) | 2.13205044 |
| 68 | X-linked dominant inheritance (HP:0001423) | 2.12420102 |
| 69 | Vaginal atresia (HP:0000148) | 2.12014194 |
| 70 | Microvesicular hepatic steatosis (HP:0001414) | 2.11465710 |
| 71 | Failure to thrive in infancy (HP:0001531) | 2.11055993 |
| 72 | Emotional lability (HP:0000712) | 2.10898440 |
| 73 | Exertional dyspnea (HP:0002875) | 2.10241616 |
| 74 | Febrile seizures (HP:0002373) | 2.08560858 |
| 75 | Absent/shortened dynein arms (HP:0200106) | 2.08450189 |
| 76 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 2.08450189 |
| 77 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 2.07441204 |
| 78 | CNS hypomyelination (HP:0003429) | 2.06907959 |
| 79 | Unsteady gait (HP:0002317) | 2.06619170 |
| 80 | Abnormality of the ileum (HP:0001549) | 2.05287125 |
| 81 | Neuroendocrine neoplasm (HP:0100634) | 2.04394684 |
| 82 | Abnormality of alanine metabolism (HP:0010916) | 2.02926839 |
| 83 | Hyperalaninemia (HP:0003348) | 2.02926839 |
| 84 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 2.02926839 |
| 85 | Abnormality of the renal cortex (HP:0011035) | 2.02253804 |
| 86 | Meckel diverticulum (HP:0002245) | 2.01968104 |
| 87 | Abnormal respiratory motile cilium physiology (HP:0012261) | 2.01942331 |
| 88 | Poor suck (HP:0002033) | 2.01050593 |
| 89 | Congenital, generalized hypertrichosis (HP:0004540) | 2.00994699 |
| 90 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.98270377 |
| 91 | Carpal bone hypoplasia (HP:0001498) | 1.94245563 |
| 92 | Abnormality of macular pigmentation (HP:0008002) | 1.93746788 |
| 93 | Sclerocornea (HP:0000647) | 1.93652444 |
| 94 | Gastrointestinal atresia (HP:0002589) | 1.92445397 |
| 95 | Abnormality of chromosome stability (HP:0003220) | 1.92012563 |
| 96 | Hypothermia (HP:0002045) | 1.91331156 |
| 97 | Inability to walk (HP:0002540) | 1.91237023 |
| 98 | Abnormal respiratory epithelium morphology (HP:0012253) | 1.90644085 |
| 99 | Abnormal respiratory motile cilium morphology (HP:0005938) | 1.90644085 |
| 100 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.90523598 |
| 101 | Limb dystonia (HP:0002451) | 1.89083351 |
| 102 | True hermaphroditism (HP:0010459) | 1.88461341 |
| 103 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.87711855 |
| 104 | Absent epiphyses (HP:0010577) | 1.87711855 |
| 105 | Abnormality of serum amino acid levels (HP:0003112) | 1.87536250 |
| 106 | Supernumerary spleens (HP:0009799) | 1.85370962 |
| 107 | Postaxial hand polydactyly (HP:0001162) | 1.85024729 |
| 108 | Chronic hepatic failure (HP:0100626) | 1.84753398 |
| 109 | Split foot (HP:0001839) | 1.84024878 |
| 110 | Progressive external ophthalmoplegia (HP:0000590) | 1.83694147 |
| 111 | Postaxial foot polydactyly (HP:0001830) | 1.83553364 |
| 112 | Sloping forehead (HP:0000340) | 1.83201817 |
| 113 | Rhinitis (HP:0012384) | 1.81854872 |
| 114 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 1.81818353 |
| 115 | Abnormality of renal resorption (HP:0011038) | 1.81602379 |
| 116 | Esotropia (HP:0000565) | 1.80198999 |
| 117 | Optic nerve hypoplasia (HP:0000609) | 1.79980018 |
| 118 | Small intestinal stenosis (HP:0012848) | 1.78677322 |
| 119 | Duodenal stenosis (HP:0100867) | 1.78677322 |
| 120 | Cerebellar dysplasia (HP:0007033) | 1.77865398 |
| 121 | Bile duct proliferation (HP:0001408) | 1.77602866 |
| 122 | Abnormal biliary tract physiology (HP:0012439) | 1.77602866 |
| 123 | Methylmalonic acidemia (HP:0002912) | 1.77399188 |
| 124 | Hyperglycinemia (HP:0002154) | 1.77082201 |
| 125 | Hypoplasia of the pons (HP:0012110) | 1.76511906 |
| 126 | Abnormality of the pons (HP:0007361) | 1.76388805 |
| 127 | Breast hypoplasia (HP:0003187) | 1.76119659 |
| 128 | Aplasia/Hypoplasia involving the carpal bones (HP:0006502) | 1.75972197 |
| 129 | Sensory axonal neuropathy (HP:0003390) | 1.74381046 |
| 130 | Renal cortical cysts (HP:0000803) | 1.74284853 |
| 131 | Specific learning disability (HP:0001328) | 1.74130940 |
| 132 | Hypoplastic left heart (HP:0004383) | 1.74061124 |
| 133 | Congenital stationary night blindness (HP:0007642) | 1.73630723 |
| 134 | Abnormality of the duodenum (HP:0002246) | 1.73531477 |
| 135 | Abnormality of the clitoris (HP:0000056) | 1.73274347 |
| 136 | Increased muscle lipid content (HP:0009058) | 1.71808434 |
| 137 | Triphalangeal thumb (HP:0001199) | 1.71513256 |
| 138 | Progressive inability to walk (HP:0002505) | 1.70703457 |
| 139 | Gaze-evoked nystagmus (HP:0000640) | 1.70430786 |
| 140 | Pheochromocytoma (HP:0002666) | 1.69837554 |
| 141 | Autoamputation (HP:0001218) | 1.69444670 |
| 142 | Lethargy (HP:0001254) | 1.69203513 |
| 143 | Abnormality of methionine metabolism (HP:0010901) | 1.69135641 |
| 144 | Type 2 muscle fiber atrophy (HP:0003554) | 1.69122801 |
| 145 | Dyschromatopsia (HP:0007641) | 1.68489487 |
| 146 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.67866029 |
| 147 | Abnormality of the corticospinal tract (HP:0002492) | 1.67741137 |
| 148 | Cystic liver disease (HP:0006706) | 1.67734528 |
| 149 | Dialeptic seizures (HP:0011146) | 1.66958679 |
| 150 | Anencephaly (HP:0002323) | 1.66232038 |
| 151 | Broad-based gait (HP:0002136) | 1.66109357 |
| 152 | Abnormal ciliary motility (HP:0012262) | 1.64563890 |
| 153 | Methylmalonic aciduria (HP:0012120) | 1.63159183 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | CASK | 3.54695853 |
| 2 | STK16 | 2.68500337 |
| 3 | BUB1 | 2.65852839 |
| 4 | CCNB1 | 2.60991228 |
| 5 | WEE1 | 2.58797063 |
| 6 | PBK | 2.52022506 |
| 7 | PNCK | 2.40170115 |
| 8 | TAF1 | 2.39924107 |
| 9 | TRIM28 | 2.34274660 |
| 10 | MAP3K12 | 2.25083329 |
| 11 | NUAK1 | 2.21838063 |
| 12 | MUSK | 2.20845471 |
| 13 | FRK | 2.19418866 |
| 14 | MAP4K2 | 2.12611064 |
| 15 | EIF2AK1 | 2.11449600 |
| 16 | NME1 | 2.10337274 |
| 17 | MST4 | 2.07559193 |
| 18 | SRPK1 | 2.07129541 |
| 19 | MAP2K7 | 2.05017651 |
| 20 | TSSK6 | 1.92271303 |
| 21 | ERBB3 | 1.89592648 |
| 22 | CDK19 | 1.86417711 |
| 23 | OXSR1 | 1.83503434 |
| 24 | TNIK | 1.82894442 |
| 25 | VRK2 | 1.73670562 |
| 26 | EIF2AK3 | 1.73084034 |
| 27 | EPHA4 | 1.70339729 |
| 28 | PRPF4B | 1.70091146 |
| 29 | MKNK1 | 1.63638628 |
| 30 | PLK2 | 1.51009890 |
| 31 | MKNK2 | 1.44861254 |
| 32 | BRSK2 | 1.42518356 |
| 33 | MARK1 | 1.42516493 |
| 34 | PLK3 | 1.41845565 |
| 35 | STK39 | 1.40008836 |
| 36 | BCR | 1.38632926 |
| 37 | BMPR1B | 1.36614694 |
| 38 | NTRK3 | 1.36007903 |
| 39 | PDK3 | 1.32949174 |
| 40 | PDK4 | 1.32949174 |
| 41 | VRK1 | 1.32922267 |
| 42 | MAP3K4 | 1.22119307 |
| 43 | PINK1 | 1.15953339 |
| 44 | PDK2 | 1.11103185 |
| 45 | TTK | 1.10973910 |
| 46 | DYRK2 | 1.07431691 |
| 47 | DAPK1 | 1.07418349 |
| 48 | CDK8 | 1.06240798 |
| 49 | MAPK13 | 1.00015573 |
| 50 | PASK | 0.99217020 |
| 51 | AKT3 | 0.98644491 |
| 52 | CSNK1G3 | 0.98356592 |
| 53 | NEK1 | 0.97507634 |
| 54 | DYRK3 | 0.96976811 |
| 55 | ZAK | 0.96562627 |
| 56 | CDC7 | 0.96547707 |
| 57 | BMPR2 | 0.91973956 |
| 58 | NEK6 | 0.91915715 |
| 59 | WNK4 | 0.91732484 |
| 60 | GRK5 | 0.91538063 |
| 61 | PLK1 | 0.88366707 |
| 62 | ADRBK2 | 0.87219481 |
| 63 | PAK3 | 0.86306151 |
| 64 | ACVR1B | 0.86005465 |
| 65 | INSRR | 0.85705875 |
| 66 | MYLK | 0.83223263 |
| 67 | ARAF | 0.81786701 |
| 68 | SIK3 | 0.81470652 |
| 69 | ATR | 0.78658424 |
| 70 | PLK4 | 0.78346017 |
| 71 | CAMK2B | 0.74141529 |
| 72 | CSNK1G2 | 0.72025978 |
| 73 | MINK1 | 0.71767170 |
| 74 | PRKCG | 0.71347330 |
| 75 | NTRK2 | 0.71232363 |
| 76 | CAMK2A | 0.68971250 |
| 77 | BRSK1 | 0.68223066 |
| 78 | WNK3 | 0.67597113 |
| 79 | CSNK1G1 | 0.66766488 |
| 80 | RPS6KA4 | 0.66295766 |
| 81 | MAPKAPK5 | 0.66057405 |
| 82 | TLK1 | 0.63826185 |
| 83 | EIF2AK2 | 0.63720804 |
| 84 | DYRK1A | 0.63712925 |
| 85 | BRAF | 0.61929077 |
| 86 | BCKDK | 0.60439976 |
| 87 | CAMKK2 | 0.59685866 |
| 88 | PKN1 | 0.59149087 |
| 89 | CDK3 | 0.57195268 |
| 90 | CDK18 | 0.56878259 |
| 91 | AURKA | 0.54578319 |
| 92 | TXK | 0.54477073 |
| 93 | CDK14 | 0.54379154 |
| 94 | GRK7 | 0.53765889 |
| 95 | CSNK1A1L | 0.53485069 |
| 96 | ATM | 0.53367122 |
| 97 | UHMK1 | 0.53358332 |
| 98 | CDK15 | 0.50446457 |
| 99 | YES1 | 0.50282462 |
| 100 | CHEK2 | 0.48444320 |
| 101 | AURKB | 0.44948172 |
| 102 | CDK11A | 0.44825785 |
| 103 | ERBB4 | 0.44383920 |
| 104 | CSNK1E | 0.42761339 |
| 105 | CSNK2A1 | 0.42581582 |
| 106 | NME2 | 0.42236598 |
| 107 | CSNK2A2 | 0.40798528 |
| 108 | CDK5 | 0.40668597 |
| 109 | STK38L | 0.39480888 |
| 110 | TAOK3 | 0.38700163 |
| 111 | MAPK4 | 0.38628332 |
| 112 | GRK1 | 0.38409631 |
| 113 | PRKCE | 0.37719707 |
| 114 | OBSCN | 0.36791316 |
| 115 | PRKACB | 0.36396269 |
| 116 | STK24 | 0.36302846 |
| 117 | PRKACA | 0.36249488 |
| 118 | MAP2K4 | 0.36008903 |
| 119 | SGK494 | 0.35898481 |
| 120 | SGK223 | 0.35898481 |
| 121 | STK3 | 0.34732381 |
| 122 | RPS6KA5 | 0.34422974 |
| 123 | CSNK1A1 | 0.34242157 |
| 124 | CAMK2D | 0.34215817 |
| 125 | LIMK1 | 0.33693487 |
| 126 | MAP3K5 | 0.33449875 |
| 127 | TGFBR1 | 0.32262742 |
| 128 | MAP3K6 | 0.31666025 |
| 129 | CLK1 | 0.30762116 |
| 130 | PHKG2 | 0.30415533 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 4.35854470 |
| 2 | Proteasome_Homo sapiens_hsa03050 | 4.08524242 |
| 3 | Parkinsons disease_Homo sapiens_hsa05012 | 3.60026526 |
| 4 | RNA polymerase_Homo sapiens_hsa03020 | 3.36006725 |
| 5 | Huntingtons disease_Homo sapiens_hsa05016 | 2.73262168 |
| 6 | Alzheimers disease_Homo sapiens_hsa05010 | 2.70446684 |
| 7 | Protein export_Homo sapiens_hsa03060 | 2.58614571 |
| 8 | Ribosome_Homo sapiens_hsa03010 | 2.51254752 |
| 9 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 2.49324385 |
| 10 | Basal transcription factors_Homo sapiens_hsa03022 | 2.29543534 |
| 11 | Nicotine addiction_Homo sapiens_hsa05033 | 2.23279062 |
| 12 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 2.06709307 |
| 13 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 1.96847720 |
| 14 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.91042716 |
| 15 | Phototransduction_Homo sapiens_hsa04744 | 1.76360206 |
| 16 | Spliceosome_Homo sapiens_hsa03040 | 1.75038591 |
| 17 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 1.73680095 |
| 18 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.71283609 |
| 19 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 1.69561619 |
| 20 | DNA replication_Homo sapiens_hsa03030 | 1.61870615 |
| 21 | Mismatch repair_Homo sapiens_hsa03430 | 1.59467283 |
| 22 | RNA transport_Homo sapiens_hsa03013 | 1.57041559 |
| 23 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.56856377 |
| 24 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.52425538 |
| 25 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.52063269 |
| 26 | Purine metabolism_Homo sapiens_hsa00230 | 1.45777922 |
| 27 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 1.44545422 |
| 28 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.39340228 |
| 29 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.39092639 |
| 30 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.38313124 |
| 31 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.33842650 |
| 32 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.32557467 |
| 33 | Homologous recombination_Homo sapiens_hsa03440 | 1.29628761 |
| 34 | RNA degradation_Homo sapiens_hsa03018 | 1.23240267 |
| 35 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 1.21039636 |
| 36 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.19768256 |
| 37 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.19271023 |
| 38 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.17598301 |
| 39 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.16852894 |
| 40 | Steroid biosynthesis_Homo sapiens_hsa00100 | 1.13218202 |
| 41 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.10347939 |
| 42 | GABAergic synapse_Homo sapiens_hsa04727 | 1.09263012 |
| 43 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 1.04728193 |
| 44 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 1.03627212 |
| 45 | Cell cycle_Homo sapiens_hsa04110 | 1.02370839 |
| 46 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.99849709 |
| 47 | Base excision repair_Homo sapiens_hsa03410 | 0.96305356 |
| 48 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.96291220 |
| 49 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.93467146 |
| 50 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.93310514 |
| 51 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.92843579 |
| 52 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.91533180 |
| 53 | Morphine addiction_Homo sapiens_hsa05032 | 0.91228071 |
| 54 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.88999150 |
| 55 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.88049464 |
| 56 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.86093223 |
| 57 | Taste transduction_Homo sapiens_hsa04742 | 0.85938770 |
| 58 | Metabolic pathways_Homo sapiens_hsa01100 | 0.85681522 |
| 59 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.84873222 |
| 60 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.83818279 |
| 61 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.83274194 |
| 62 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.82259524 |
| 63 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.78276807 |
| 64 | Circadian rhythm_Homo sapiens_hsa04710 | 0.75012034 |
| 65 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.74957639 |
| 66 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.74014878 |
| 67 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.73863303 |
| 68 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.73032115 |
| 69 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.72198858 |
| 70 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.71685327 |
| 71 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.65114064 |
| 72 | Olfactory transduction_Homo sapiens_hsa04740 | 0.64935935 |
| 73 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.64189208 |
| 74 | Circadian entrainment_Homo sapiens_hsa04713 | 0.63254648 |
| 75 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.62829708 |
| 76 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 0.61933259 |
| 77 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.61335690 |
| 78 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.60650459 |
| 79 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.59593292 |
| 80 | Retinol metabolism_Homo sapiens_hsa00830 | 0.59372038 |
| 81 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.58093480 |
| 82 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.58009993 |
| 83 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 0.57783227 |
| 84 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.54409337 |
| 85 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.54307712 |
| 86 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.53500160 |
| 87 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.50705753 |
| 88 | Long-term depression_Homo sapiens_hsa04730 | 0.49487758 |
| 89 | Histidine metabolism_Homo sapiens_hsa00340 | 0.49052275 |
| 90 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.46848811 |
| 91 | Long-term potentiation_Homo sapiens_hsa04720 | 0.45675869 |
| 92 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.43935397 |
| 93 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.43005167 |
| 94 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.41862584 |
| 95 | Phagosome_Homo sapiens_hsa04145 | 0.41491086 |
| 96 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.41415587 |
| 97 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.41148226 |
| 98 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 0.40389566 |
| 99 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.39381455 |
| 100 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.39223273 |
| 101 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.38404550 |
| 102 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.38338992 |
| 103 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.37893592 |
| 104 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.37560885 |
| 105 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.37126849 |
| 106 | Alcoholism_Homo sapiens_hsa05034 | 0.37069441 |
| 107 | Carbon metabolism_Homo sapiens_hsa01200 | 0.36436509 |
| 108 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.35435858 |
| 109 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.34858169 |
| 110 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.34602106 |
| 111 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.33331777 |
| 112 | Peroxisome_Homo sapiens_hsa04146 | 0.31810689 |
| 113 | Salivary secretion_Homo sapiens_hsa04970 | 0.31663758 |
| 114 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.31270975 |
| 115 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.31007190 |
| 116 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.29926718 |
| 117 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.29064177 |
| 118 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.28840248 |
| 119 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.27561098 |
| 120 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.26635716 |
| 121 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.26318983 |

