

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 5.84779197 |
| 2 | ATP synthesis coupled proton transport (GO:0015986) | 5.29615659 |
| 3 | energy coupled proton transport, down electrochemical gradient (GO:0015985) | 5.29615659 |
| 4 | DNA deamination (GO:0045006) | 5.19968615 |
| 5 | oxidative phosphorylation (GO:0006119) | 5.01053419 |
| 6 | respiratory electron transport chain (GO:0022904) | 4.51144551 |
| 7 | electron transport chain (GO:0022900) | 4.41565357 |
| 8 | proteasome assembly (GO:0043248) | 4.29404605 |
| 9 | regulation of mitochondrial translation (GO:0070129) | 4.23124533 |
| 10 | ribosomal small subunit assembly (GO:0000028) | 4.20970904 |
| 11 | tricarboxylic acid cycle (GO:0006099) | 4.12051096 |
| 12 | mitochondrial electron transport, NADH to ubiquinone (GO:0006120) | 4.09015685 |
| 13 | cullin deneddylation (GO:0010388) | 3.79362522 |
| 14 | quinone biosynthetic process (GO:1901663) | 3.77684682 |
| 15 | ubiquinone biosynthetic process (GO:0006744) | 3.77684682 |
| 16 | viral transcription (GO:0019083) | 3.71635897 |
| 17 | translational termination (GO:0006415) | 3.70924243 |
| 18 | deoxyribonucleoside monophosphate metabolic process (GO:0009162) | 3.63661991 |
| 19 | lysine catabolic process (GO:0006554) | 3.61576082 |
| 20 | lysine metabolic process (GO:0006553) | 3.61576082 |
| 21 | deoxyribose phosphate biosynthetic process (GO:0046385) | 3.54369695 |
| 22 | 2-deoxyribonucleotide biosynthetic process (GO:0009265) | 3.54369695 |
| 23 | ubiquinone metabolic process (GO:0006743) | 3.47906835 |
| 24 | translational elongation (GO:0006414) | 3.47501645 |
| 25 | chaperone-mediated protein transport (GO:0072321) | 3.44281017 |
| 26 | branched-chain amino acid catabolic process (GO:0009083) | 3.43146558 |
| 27 | protein deneddylation (GO:0000338) | 3.41654797 |
| 28 | establishment of protein localization to mitochondrial membrane (GO:0090151) | 3.41005912 |
| 29 | nucleobase-containing small molecule interconversion (GO:0015949) | 3.38666283 |
| 30 | cellular ketone body metabolic process (GO:0046950) | 3.37382840 |
| 31 | SRP-dependent cotranslational protein targeting to membrane (GO:0006614) | 3.36520196 |
| 32 | telomere maintenance via semi-conservative replication (GO:0032201) | 3.36506483 |
| 33 | chromatin remodeling at centromere (GO:0031055) | 3.35110594 |
| 34 | ribosomal large subunit biogenesis (GO:0042273) | 3.32775327 |
| 35 | DNA damage response, detection of DNA damage (GO:0042769) | 3.30295311 |
| 36 | DNA strand elongation involved in DNA replication (GO:0006271) | 3.29362009 |
| 37 | cotranslational protein targeting to membrane (GO:0006613) | 3.29008628 |
| 38 | folic acid-containing compound biosynthetic process (GO:0009396) | 3.28414729 |
| 39 | protein targeting to ER (GO:0045047) | 3.27086863 |
| 40 | establishment of integrated proviral latency (GO:0075713) | 3.26925609 |
| 41 | heme biosynthetic process (GO:0006783) | 3.25338438 |
| 42 | deoxyribonucleotide biosynthetic process (GO:0009263) | 3.23894985 |
| 43 | protein localization to endoplasmic reticulum (GO:0070972) | 3.22049837 |
| 44 | CENP-A containing nucleosome assembly (GO:0034080) | 3.21211865 |
| 45 | glyoxylate metabolic process (GO:0046487) | 3.20014318 |
| 46 | maturation of SSU-rRNA (GO:0030490) | 3.19782133 |
| 47 | cysteine metabolic process (GO:0006534) | 3.18518302 |
| 48 | pteridine-containing compound biosynthetic process (GO:0042559) | 3.17569300 |
| 49 | protein neddylation (GO:0045116) | 3.15089317 |
| 50 | L-methionine biosynthetic process from methylthioadenosine (GO:0019509) | 3.15083303 |
| 51 | mitochondrial respiratory chain complex I biogenesis (GO:0097031) | 3.12422170 |
| 52 | mitochondrial respiratory chain complex I assembly (GO:0032981) | 3.12422170 |
| 53 | NADH dehydrogenase complex assembly (GO:0010257) | 3.12422170 |
| 54 | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436) | 3.12135954 |
| 55 | DNA double-strand break processing (GO:0000729) | 3.11222009 |
| 56 | regulation of cellular amino acid metabolic process (GO:0006521) | 3.10454593 |
| 57 | establishment of protein localization to endoplasmic reticulum (GO:0072599) | 3.10185913 |
| 58 | aerobic respiration (GO:0009060) | 3.09878788 |
| 59 | translational initiation (GO:0006413) | 3.09802231 |
| 60 | DNA strand elongation (GO:0022616) | 3.07078526 |
| 61 | translation (GO:0006412) | 3.05908849 |
| 62 | transcription elongation from RNA polymerase III promoter (GO:0006385) | 3.05460933 |
| 63 | termination of RNA polymerase III transcription (GO:0006386) | 3.05460933 |
| 64 | folic acid metabolic process (GO:0046655) | 3.04161363 |
| 65 | ribosomal small subunit biogenesis (GO:0042274) | 3.03191564 |
| 66 | formation of translation preinitiation complex (GO:0001731) | 3.01090258 |
| 67 | amino acid salvage (GO:0043102) | 3.00922779 |
| 68 | L-methionine salvage (GO:0071267) | 3.00922779 |
| 69 | L-methionine biosynthetic process (GO:0071265) | 3.00922779 |
| 70 | DNA replication checkpoint (GO:0000076) | 3.00695975 |
| 71 | erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221) | 3.00486393 |
| 72 | L-phenylalanine metabolic process (GO:0006558) | 3.00486393 |
| 73 | protein complex biogenesis (GO:0070271) | 2.98563808 |
| 74 | inner mitochondrial membrane organization (GO:0007007) | 2.96401177 |
| 75 | fatty acid beta-oxidation (GO:0006635) | 2.96274057 |
| 76 | positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437) | 2.95316250 |
| 77 | ketone body metabolic process (GO:1902224) | 2.95024832 |
| 78 | pseudouridine synthesis (GO:0001522) | 2.94636694 |
| 79 | branched-chain amino acid metabolic process (GO:0009081) | 2.94602373 |
| 80 | purine nucleoside triphosphate biosynthetic process (GO:0009145) | 2.93469841 |
| 81 | ATP biosynthetic process (GO:0006754) | 2.91627928 |
| 82 | mitochondrial respiratory chain complex assembly (GO:0033108) | 2.91422105 |
| 83 | pyrimidine nucleoside triphosphate metabolic process (GO:0009147) | 2.90943326 |
| 84 | purine nucleobase biosynthetic process (GO:0009113) | 2.90891005 |
| 85 | * protein targeting to mitochondrion (GO:0006626) | 2.90009652 |
| 86 | viral life cycle (GO:0019058) | 2.88438099 |
| 87 | telomere maintenance via recombination (GO:0000722) | 2.87922599 |
| 88 | glycine metabolic process (GO:0006544) | 2.87885038 |
| 89 | NADH metabolic process (GO:0006734) | 2.87647459 |
| 90 | nucleoside diphosphate biosynthetic process (GO:0009133) | 2.87423847 |
| 91 | purine ribonucleoside triphosphate biosynthetic process (GO:0009206) | 2.86916552 |
| 92 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) | 2.85869950 |
| 93 | ribosome assembly (GO:0042255) | 2.85800338 |
| 94 | * protein localization to mitochondrion (GO:0070585) | 2.85718531 |
| 95 | spliceosomal snRNP assembly (GO:0000387) | 2.85297225 |
| 96 | iron-sulfur cluster assembly (GO:0016226) | 2.85252458 |
| 97 | metallo-sulfur cluster assembly (GO:0031163) | 2.85252458 |
| 98 | heme metabolic process (GO:0042168) | 2.83935175 |
| 99 | * mitochondrial transport (GO:0006839) | 2.83775125 |
| 100 | * establishment of protein localization to mitochondrion (GO:0072655) | 2.82939508 |
| 101 | serine family amino acid biosynthetic process (GO:0009070) | 2.82756884 |
| 102 | IMP biosynthetic process (GO:0006188) | 2.80876810 |
| 103 | DNA replication initiation (GO:0006270) | 2.80110034 |
| 104 | protein-cofactor linkage (GO:0018065) | 2.79283672 |
| 105 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0 | 2.77225899 |
| 106 | cellular respiration (GO:0045333) | 2.77223832 |
| 107 | cellular protein complex disassembly (GO:0043624) | 2.76958015 |
| 108 | peptidyl-histidine modification (GO:0018202) | 2.75262322 |
| 109 | water-soluble vitamin biosynthetic process (GO:0042364) | 2.74197960 |
| 110 | tricarboxylic acid metabolic process (GO:0072350) | 2.73429701 |
| 111 | negative regulation of ubiquitin-protein transferase activity (GO:0051444) | 2.72954418 |
| 112 | negative regulation of ligase activity (GO:0051352) | 2.72954418 |
| 113 | ribonucleoside triphosphate biosynthetic process (GO:0009201) | 2.72942335 |
| 114 | respiratory chain complex IV assembly (GO:0008535) | 2.72742946 |
| 115 | histone exchange (GO:0043486) | 2.72650427 |
| 116 | pyrimidine nucleoside monophosphate metabolic process (GO:0009129) | 2.71833254 |
| 117 | nucleobase biosynthetic process (GO:0046112) | 2.71769337 |
| 118 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184) | 2.71665561 |
| 119 | valine metabolic process (GO:0006573) | 2.70739347 |
| 120 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 2.70723755 |
| 121 | GTP biosynthetic process (GO:0006183) | 2.70426737 |
| 122 | nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291) | 2.69991126 |
| 123 | regulation of mitotic spindle checkpoint (GO:1903504) | 2.69083019 |
| 124 | regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266) | 2.69083019 |
| 125 | positive regulation of ubiquitin-protein transferase activity (GO:0051443) | 2.68222137 |
| 126 | tRNA aminoacylation for protein translation (GO:0006418) | 2.67454514 |
| 127 | tRNA aminoacylation (GO:0043039) | 2.66253540 |
| 128 | amino acid activation (GO:0043038) | 2.66253540 |
| 129 | pyrimidine nucleobase catabolic process (GO:0006208) | 2.62535387 |
| 130 | ribonucleoprotein complex disassembly (GO:0032988) | 2.60754967 |
| 131 | positive regulation of mitochondrial fission (GO:0090141) | 2.59125465 |
| 132 | nonmotile primary cilium assembly (GO:0035058) | 2.58810549 |
| 133 | organelle disassembly (GO:1903008) | 2.58300194 |
| 134 | IMP metabolic process (GO:0046040) | 2.58242397 |
| 135 | positive regulation of ligase activity (GO:0051351) | 2.55416273 |
| 136 | establishment of viral latency (GO:0019043) | 2.54180857 |
| 137 | DNA replication-independent nucleosome organization (GO:0034724) | 2.54063046 |
| 138 | DNA replication-independent nucleosome assembly (GO:0006336) | 2.54063046 |
| 139 | histone H2A acetylation (GO:0043968) | 2.53869601 |
| 140 | DNA catabolic process, exonucleolytic (GO:0000738) | 2.53355933 |
| 141 | de novo protein folding (GO:0006458) | 2.52925933 |
| 142 | cellular component biogenesis (GO:0044085) | 2.49315582 |
| 143 | resolution of meiotic recombination intermediates (GO:0000712) | 2.48391703 |
| 144 | regulation of ubiquitin-protein transferase activity (GO:0051438) | 2.48304320 |
| 145 | mitotic metaphase plate congression (GO:0007080) | 2.46594124 |
| 146 | pyrimidine deoxyribonucleotide metabolic process (GO:0009219) | 2.43596570 |
| 147 | de novo posttranslational protein folding (GO:0051084) | 2.42863901 |
| 148 | regulation of cofactor metabolic process (GO:0051193) | 2.39254801 |
| 149 | regulation of coenzyme metabolic process (GO:0051196) | 2.39254801 |
| 150 | synapsis (GO:0007129) | 2.39202137 |
| 151 | negative regulation of mitotic sister chromatid separation (GO:2000816) | 2.38766648 |
| 152 | negative regulation of sister chromatid segregation (GO:0033046) | 2.38766648 |
| 153 | negative regulation of mitotic metaphase/anaphase transition (GO:0045841) | 2.38766648 |
| 154 | negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100) | 2.38766648 |
| 155 | negative regulation of mitotic sister chromatid segregation (GO:0033048) | 2.38766648 |
| 156 | pyrimidine deoxyribonucleotide catabolic process (GO:0009223) | 2.38628629 |
| 157 | regulation of ligase activity (GO:0051340) | 2.38344090 |
| 158 | 7-methylguanosine mRNA capping (GO:0006370) | 2.38152194 |
| 159 | protein K11-linked ubiquitination (GO:0070979) | 2.37350883 |
| 160 | negative regulation of DNA recombination (GO:0045910) | 2.36487154 |
| 161 | regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510) | 2.35745187 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 4.75161234 |
| 2 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 4.56042630 |
| 3 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 4.37861518 |
| 4 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 4.01658371 |
| 5 | E2F7_22180533_ChIP-Seq_HELA_Human | 3.87746693 |
| 6 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 3.68252549 |
| 7 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 3.61469953 |
| 8 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 3.41810300 |
| 9 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 3.12807458 |
| 10 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 3.09574550 |
| 11 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 3.06937507 |
| 12 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 2.96236863 |
| 13 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 2.68215694 |
| 14 | DCP1A_22483619_ChIP-Seq_HELA_Human | 2.54132429 |
| 15 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 2.51694663 |
| 16 | * E2F1_18555785_ChIP-Seq_MESCs_Mouse | 2.49733891 |
| 17 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 2.40998359 |
| 18 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 2.33162527 |
| 19 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 2.31478954 |
| 20 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 2.30114546 |
| 21 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 2.30084141 |
| 22 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 2.29916126 |
| 23 | * VDR_23849224_ChIP-Seq_CD4+_Human | 2.25885905 |
| 24 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 2.24559831 |
| 25 | XRN2_22483619_ChIP-Seq_HELA_Human | 2.24222767 |
| 26 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 2.23918684 |
| 27 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 2.23795229 |
| 28 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 2.23450984 |
| 29 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 2.20558617 |
| 30 | SRF_21415370_ChIP-Seq_HL-1_Mouse | 2.20502252 |
| 31 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 2.16158931 |
| 32 | CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 2.14754996 |
| 33 | RXR_22158963_ChIP-Seq_LIVER_Mouse | 2.05482581 |
| 34 | * ZFX_18555785_ChIP-Seq_MESCs_Mouse | 2.04337637 |
| 35 | * GABP_19822575_ChIP-Seq_HepG2_Human | 2.00788255 |
| 36 | FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 1.96947445 |
| 37 | FOXP3_21729870_ChIP-Seq_TREG_Human | 1.95994137 |
| 38 | PPARA_22158963_ChIP-Seq_LIVER_Mouse | 1.91656778 |
| 39 | EGR1_23403033_ChIP-Seq_LIVER_Mouse | 1.89536547 |
| 40 | TAL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.87574456 |
| 41 | * ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 1.86970802 |
| 42 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 1.86799374 |
| 43 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 1.84361318 |
| 44 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.81559032 |
| 45 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.80936029 |
| 46 | SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse | 1.78290598 |
| 47 | HNF4A_19761587_ChIP-ChIP_CACO-2_Human | 1.76909550 |
| 48 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.73132883 |
| 49 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.72630963 |
| 50 | GATA1_22025678_ChIP-Seq_K562_Human | 1.71462579 |
| 51 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 1.69828593 |
| 52 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.68855097 |
| 53 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 1.65471893 |
| 54 | * ERG_20887958_ChIP-Seq_HPC-7_Mouse | 1.65056712 |
| 55 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.64180048 |
| 56 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 1.64108154 |
| 57 | HOXB4_20404135_ChIP-ChIP_EML_Mouse | 1.63537172 |
| 58 | ELK1_19687146_ChIP-ChIP_HELA_Human | 1.59755219 |
| 59 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.59198296 |
| 60 | * CEBPB_24764292_ChIP-Seq_MC3T3_Mouse | 1.53870365 |
| 61 | FLI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.47737593 |
| 62 | * FUS_26573619_Chip-Seq_HEK293_Human | 1.46645858 |
| 63 | VDR_22108803_ChIP-Seq_LS180_Human | 1.45382385 |
| 64 | KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 1.42271317 |
| 65 | NOTCH1_21737748_ChIP-Seq_TLL_Human | 1.39009508 |
| 66 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.38879252 |
| 67 | * POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.38102401 |
| 68 | * EWS_26573619_Chip-Seq_HEK293_Human | 1.37515598 |
| 69 | * E2F1_21310950_ChIP-Seq_MCF-7_Human | 1.36876703 |
| 70 | * CNOT3_19339689_ChIP-ChIP_MESCs_Mouse | 1.36103597 |
| 71 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 1.30752050 |
| 72 | SFPI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.28783046 |
| 73 | * POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.27666909 |
| 74 | BCL3_23251550_ChIP-Seq_MUSCLE_Mouse | 1.27637002 |
| 75 | CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human | 1.23805928 |
| 76 | CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons | 1.23171318 |
| 77 | ZNF263_19887448_ChIP-Seq_K562_Human | 1.23123279 |
| 78 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.22579489 |
| 79 | FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse | 1.20960266 |
| 80 | SOX2_16153702_ChIP-ChIP_HESCs_Human | 1.19525208 |
| 81 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 1.19362756 |
| 82 | YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.19234799 |
| 83 | NANOG_18555785_ChIP-Seq_MESCs_Mouse | 1.18047235 |
| 84 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.17913592 |
| 85 | PRDM5_23873026_ChIP-Seq_MEFs_Mouse | 1.17714698 |
| 86 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.17232773 |
| 87 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.11871855 |
| 88 | NANOG_16153702_ChIP-ChIP_HESCs_Human | 1.11546887 |
| 89 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.10233196 |
| 90 | ELK1_22589737_ChIP-Seq_MCF10A_Human | 1.09746700 |
| 91 | * TRIM28_19339689_ChIP-ChIP_MESCs_Mouse | 1.09053773 |
| 92 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 1.08500815 |
| 93 | E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human | 1.07044389 |
| 94 | LXR_22158963_ChIP-Seq_LIVER_Mouse | 1.07019994 |
| 95 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.06728693 |
| 96 | * GFI1B_20887958_ChIP-Seq_HPC-7_Mouse | 1.05816200 |
| 97 | * MYC_18940864_ChIP-ChIP_HL60_Human | 1.03582944 |
| 98 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.03076462 |
| 99 | PADI4_21655091_ChIP-ChIP_MCF-7_Human | 1.02075884 |
| 100 | TFEB_21752829_ChIP-Seq_HELA_Human | 1.01886044 |
| 101 | SOX2_18555785_ChIP-Seq_MESCs_Mouse | 1.01125609 |
| 102 | CTCF_18555785_ChIP-Seq_MESCs_Mouse | 1.00770281 |
| 103 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.00523975 |
| 104 | KLF4_18555785_ChIP-Seq_MESCs_Mouse | 1.00176263 |
| 105 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 0.99188702 |
| 106 | KDM5A_27292631_Chip-Seq_BREAST_Human | 0.98237974 |
| 107 | * RNF2_27304074_Chip-Seq_NSC_Mouse | 0.97898728 |
| 108 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 0.96574195 |
| 109 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 0.95946895 |
| 110 | FOXO1_23066095_ChIP-Seq_LIVER_Mouse | 0.94224525 |
| 111 | SIN3A_21632747_ChIP-Seq_MESCs_Mouse | 0.93705730 |
| 112 | POU5F1_18358816_ChIP-ChIP_MESCs_Mouse | 0.92703060 |
| 113 | REST_19997604_ChIP-ChIP_NEURONS_Mouse | 0.91928157 |
| 114 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 0.90834335 |
| 115 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 0.89987453 |
| 116 | CIITA_25753668_ChIP-Seq_RAJI_Human | 0.89980744 |
| 117 | SOX2_19030024_ChIP-ChIP_MESCs_Mouse | 0.89424637 |
| 118 | * BMI1_23680149_ChIP-Seq_NPCS_Mouse | 0.89256548 |
| 119 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 0.88563904 |
| 120 | GBX2_23144817_ChIP-Seq_PC3_Human | 0.88430477 |
| 121 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 0.88345352 |
| 122 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 0.87167529 |
| 123 | SOX17_20123909_ChIP-Seq_XEN_Mouse | 0.87101567 |
| 124 | * TBX5_21415370_ChIP-Seq_HL-1_Mouse | 0.85700902 |
| 125 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 0.84833751 |
| 126 | P300_19829295_ChIP-Seq_ESCs_Human | 0.83567988 |
| 127 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 0.82805983 |
| 128 | DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 0.82567969 |
| 129 | GATA4_21415370_ChIP-Seq_HL-1_Mouse | 0.82297494 |
| 130 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.79733180 |
| 131 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 0.78961818 |
| 132 | CLOCK_20551151_ChIP-Seq_293T_Human | 0.78893647 |
| 133 | * ASH2L_23239880_ChIP-Seq_MESCs_Mouse | 0.78064286 |
| 134 | * SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 0.76950561 |
| 135 | TP53_22573176_ChIP-Seq_HFKS_Human | 0.76303154 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003806_abnormal_nucleotide_metabolis | 4.68165668 |
| 2 | MP0002139_abnormal_hepatobiliary_system | 4.33093552 |
| 3 | MP0005360_urolithiasis | 3.95696729 |
| 4 | MP0005085_abnormal_gallbladder_physiolo | 3.59754627 |
| 5 | MP0006036_abnormal_mitochondrial_physio | 3.31987376 |
| 6 | MP0005365_abnormal_bile_salt | 3.16456233 |
| 7 | MP0003186_abnormal_redox_activity | 3.01692509 |
| 8 | MP0004147_increased_porphyrin_level | 2.88287813 |
| 9 | MP0004215_abnormal_myocardial_fiber | 2.59200789 |
| 10 | MP0003693_abnormal_embryo_hatching | 2.58627561 |
| 11 | MP0008789_abnormal_olfactory_epithelium | 2.58444139 |
| 12 | MP0003646_muscle_fatigue | 2.54457719 |
| 13 | MP0004084_abnormal_cardiac_muscle | 2.53414664 |
| 14 | MP0003656_abnormal_erythrocyte_physiolo | 2.50440387 |
| 15 | MP0003195_calcinosis | 2.44191878 |
| 16 | MP0009379_abnormal_foot_pigmentation | 2.42309087 |
| 17 | MP0009840_abnormal_foam_cell | 2.38284693 |
| 18 | MP0003122_maternal_imprinting | 2.36040051 |
| 19 | MP0003221_abnormal_cardiomyocyte_apopto | 2.33384464 |
| 20 | MP0005499_abnormal_olfactory_system | 2.29092596 |
| 21 | MP0005394_taste/olfaction_phenotype | 2.29092596 |
| 22 | MP0006035_abnormal_mitochondrial_morpho | 2.26069916 |
| 23 | MP0008875_abnormal_xenobiotic_pharmacok | 2.21652564 |
| 24 | MP0004957_abnormal_blastocyst_morpholog | 2.20017677 |
| 25 | MP0005332_abnormal_amino_acid | 2.15576535 |
| 26 | MP0008877_abnormal_DNA_methylation | 2.15148918 |
| 27 | MP0005083_abnormal_biliary_tract | 2.15077089 |
| 28 | MP0002822_catalepsy | 2.14480110 |
| 29 | MP0002102_abnormal_ear_morphology | 2.06754863 |
| 30 | MP0003121_genomic_imprinting | 2.05236212 |
| 31 | MP0005084_abnormal_gallbladder_morpholo | 1.97503216 |
| 32 | MP0005330_cardiomyopathy | 1.87185162 |
| 33 | MP0002837_dystrophic_cardiac_calcinosis | 1.86493634 |
| 34 | MP0003941_abnormal_skin_development | 1.85401205 |
| 35 | MP0008775_abnormal_heart_ventricle | 1.78061362 |
| 36 | MP0003567_abnormal_fetal_cardiomyocyte | 1.75403416 |
| 37 | MP0006292_abnormal_olfactory_placode | 1.71688209 |
| 38 | MP0001984_abnormal_olfaction | 1.71301650 |
| 39 | MP0010329_abnormal_lipoprotein_level | 1.70973988 |
| 40 | MP0009046_muscle_twitch | 1.69214383 |
| 41 | MP0001666_abnormal_nutrient_absorption | 1.65980972 |
| 42 | MP0001764_abnormal_homeostasis | 1.64881934 |
| 43 | MP0005319_abnormal_enzyme/_coenzyme | 1.64730117 |
| 44 | MP0003786_premature_aging | 1.63817077 |
| 45 | MP0003252_abnormal_bile_duct | 1.63102336 |
| 46 | MP0003880_abnormal_central_pattern | 1.62715034 |
| 47 | MP0001188_hyperpigmentation | 1.59929891 |
| 48 | MP0003890_abnormal_embryonic-extraembry | 1.57281226 |
| 49 | MP0008995_early_reproductive_senescence | 1.57096181 |
| 50 | MP0006072_abnormal_retinal_apoptosis | 1.56352798 |
| 51 | MP0004036_abnormal_muscle_relaxation | 1.52667267 |
| 52 | MP0006276_abnormal_autonomic_nervous | 1.49593362 |
| 53 | MP0005670_abnormal_white_adipose | 1.49095924 |
| 54 | MP0010094_abnormal_chromosome_stability | 1.48607685 |
| 55 | MP0003123_paternal_imprinting | 1.47964302 |
| 56 | MP0005584_abnormal_enzyme/coenzyme_acti | 1.46522800 |
| 57 | MP0009697_abnormal_copulation | 1.45356115 |
| 58 | MP0006054_spinal_hemorrhage | 1.43695780 |
| 59 | MP0001293_anophthalmia | 1.43357328 |
| 60 | MP0003111_abnormal_nucleus_morphology | 1.39396690 |
| 61 | MP0003077_abnormal_cell_cycle | 1.39273347 |
| 62 | MP0005636_abnormal_mineral_homeostasis | 1.35639189 |
| 63 | MP0005266_abnormal_metabolism | 1.33979401 |
| 64 | MP0000609_abnormal_liver_physiology | 1.33886588 |
| 65 | MP0004130_abnormal_muscle_cell | 1.32026718 |
| 66 | MP0000358_abnormal_cell_content/ | 1.30265858 |
| 67 | MP0004270_analgesia | 1.29632247 |
| 68 | MP0003937_abnormal_limbs/digits/tail_de | 1.29379225 |
| 69 | MP0004145_abnormal_muscle_electrophysio | 1.29373453 |
| 70 | MP0008932_abnormal_embryonic_tissue | 1.27984225 |
| 71 | MP0003787_abnormal_imprinting | 1.27806313 |
| 72 | MP0009643_abnormal_urine_homeostasis | 1.22785294 |
| 73 | MP0001544_abnormal_cardiovascular_syste | 1.21649693 |
| 74 | MP0005385_cardiovascular_system_phenoty | 1.21649693 |
| 75 | MP0000749_muscle_degeneration | 1.18447619 |
| 76 | MP0002118_abnormal_lipid_homeostasis | 1.16959714 |
| 77 | MP0002160_abnormal_reproductive_system | 1.16225636 |
| 78 | MP0001853_heart_inflammation | 1.15018866 |
| 79 | MP0002233_abnormal_nose_morphology | 1.13820012 |
| 80 | MP0002272_abnormal_nervous_system | 1.13495083 |
| 81 | MP0004142_abnormal_muscle_tone | 1.11642193 |
| 82 | MP0004133_heterotaxia | 1.11399963 |
| 83 | MP0006138_congestive_heart_failure | 1.08642337 |
| 84 | MP0002210_abnormal_sex_determination | 1.08164744 |
| 85 | MP0002972_abnormal_cardiac_muscle | 1.07782626 |
| 86 | MP0005645_abnormal_hypothalamus_physiol | 1.07635166 |
| 87 | MP0005666_abnormal_adipose_tissue | 1.07620723 |
| 88 | MP0003136_yellow_coat_color | 1.07232551 |
| 89 | MP0002184_abnormal_innervation | 1.05586830 |
| 90 | MP0008058_abnormal_DNA_repair | 1.05566468 |
| 91 | MP0003119_abnormal_digestive_system | 1.04152001 |
| 92 | MP0002138_abnormal_hepatobiliary_system | 1.04080302 |
| 93 | MP0010386_abnormal_urinary_bladder | 1.03733231 |
| 94 | MP0003011_delayed_dark_adaptation | 1.03391333 |
| 95 | MP0005220_abnormal_exocrine_pancreas | 1.03230197 |
| 96 | MP0002736_abnormal_nociception_after | 1.02071695 |
| 97 | MP0003137_abnormal_impulse_conducting | 1.01996882 |
| 98 | MP0003718_maternal_effect | 1.01994404 |
| 99 | MP0000598_abnormal_liver_morphology | 1.01979598 |
| 100 | MP0003191_abnormal_cellular_cholesterol | 1.01915821 |
| 101 | MP0004859_abnormal_synaptic_plasticity | 1.01449743 |
| 102 | MP0004019_abnormal_vitamin_homeostasis | 1.00595243 |
| 103 | MP0000778_abnormal_nervous_system | 1.00063352 |
| 104 | MP0004043_abnormal_pH_regulation | 0.99011268 |
| 105 | MP0000631_abnormal_neuroendocrine_gland | 0.97982687 |
| 106 | MP0000490_abnormal_crypts_of | 0.97909951 |
| 107 | MP0001929_abnormal_gametogenesis | 0.94733739 |
| 108 | MP0002751_abnormal_autonomic_nervous | 0.94686722 |
| 109 | MP0002734_abnormal_mechanical_nocicepti | 0.94187905 |
| 110 | MP0000049_abnormal_middle_ear | 0.92339543 |
| 111 | MP0002269_muscular_atrophy | 0.92022681 |
| 112 | MP0002971_abnormal_brown_adipose | 0.91272158 |
| 113 | MP0003315_abnormal_perineum_morphology | 0.91099149 |
| 114 | MP0000647_abnormal_sebaceous_gland | 0.90684418 |
| 115 | MP0005376_homeostasis/metabolism_phenot | 0.89718559 |
| 116 | MP0009745_abnormal_behavioral_response | 0.89324271 |
| 117 | MP0001299_abnormal_eye_distance/ | 0.89196213 |
| 118 | MP0005165_increased_susceptibility_to | 0.89152188 |
| 119 | MP0000955_abnormal_spinal_cord | 0.88116434 |
| 120 | MP0002638_abnormal_pupillary_reflex | 0.87420415 |
| 121 | MP0004484_altered_response_of | 0.86279758 |
| 122 | MP0000750_abnormal_muscle_regeneration | 0.85913701 |
| 123 | MP0003698_abnormal_male_reproductive | 0.85516452 |
| 124 | MP0005253_abnormal_eye_physiology | 0.85230609 |
| 125 | MP0004233_abnormal_muscle_weight | 0.85122982 |
| 126 | MP0005551_abnormal_eye_electrophysiolog | 0.84570291 |
| 127 | MP0001145_abnormal_male_reproductive | 0.84426640 |
| 128 | MP0000343_altered_response_to | 0.83678745 |
| 129 | MP0002090_abnormal_vision | 0.83643925 |
| 130 | MP0001905_abnormal_dopamine_level | 0.82463273 |
| 131 | MP0008469_abnormal_protein_level | 0.82253715 |
| 132 | MP0008007_abnormal_cellular_replicative | 0.81764450 |
| 133 | MP0005535_abnormal_body_temperature | 0.81343404 |
| 134 | MP0005423_abnormal_somatic_nervous | 0.81075557 |
| 135 | MP0000653_abnormal_sex_gland | 0.80742327 |
| 136 | MP0001529_abnormal_vocalization | 0.80211055 |
| 137 | MP0001661_extended_life_span | 0.79752602 |
| 138 | MP0003868_abnormal_feces_composition | 0.79742153 |
| 139 | MP0001730_embryonic_growth_arrest | 0.79732630 |
| 140 | MP0002396_abnormal_hematopoietic_system | 0.78734777 |
| 141 | MP0002735_abnormal_chemical_nociception | 0.78402706 |
| 142 | MP0003385_abnormal_body_wall | 0.78217687 |
| 143 | MP0010630_abnormal_cardiac_muscle | 0.77760472 |
| 144 | MP0002653_abnormal_ependyma_morphology | 0.77706311 |
| 145 | MP0002697_abnormal_eye_size | 0.77558804 |
| 146 | MP0004811_abnormal_neuron_physiology | 0.77533719 |
| 147 | MP0005620_abnormal_muscle_contractility | 0.77277597 |
| 148 | MP0002078_abnormal_glucose_homeostasis | 0.76806010 |
| 149 | MP0001324_abnormal_eye_pigmentation | 0.76553726 |
| 150 | MP0003635_abnormal_synaptic_transmissio | 0.75888858 |
| 151 | MP0002084_abnormal_developmental_patter | 0.75604559 |
| 152 | MP0001727_abnormal_embryo_implantation | 0.74930371 |
| 153 | MP0002234_abnormal_pharynx_morphology | 0.74766007 |
| 154 | MP0002752_abnormal_somatic_nervous | 0.74381739 |
| 155 | MP0002085_abnormal_embryonic_tissue | 0.74093175 |
| 156 | MP0009763_increased_sensitivity_to | 0.73841183 |
| 157 | MP0004087_abnormal_muscle_fiber | 0.73765078 |
| 158 | MP0000751_myopathy | 0.73084670 |
| 159 | MP0002557_abnormal_social/conspecific_i | 0.71521581 |
| 160 | MP0001968_abnormal_touch/_nociception | 0.71504760 |
| 161 | MP0003724_increased_susceptibility_to | 0.69026101 |
| 162 | MP0009642_abnormal_blood_homeostasis | 0.68860515 |
| 163 | MP0002332_abnormal_exercise_endurance | 0.67091986 |
| 164 | MP0001756_abnormal_urination | 0.66443637 |
| 165 | MP0002938_white_spotting | 0.66192306 |
| 166 | MP0005187_abnormal_penis_morphology | 0.65174913 |
| 167 | MP0002970_abnormal_white_adipose | 0.64486169 |
| 168 | MP0000372_irregular_coat_pigmentation | 0.63844623 |
| 169 | MP0002106_abnormal_muscle_physiology | 0.62930483 |
| 170 | MP0002127_abnormal_cardiovascular_syste | 0.60193216 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Acute necrotizing encephalopathy (HP:0006965) | 4.89255663 |
| 2 | Hepatic necrosis (HP:0002605) | 4.87261115 |
| 3 | Abnormal mitochondria in muscle tissue (HP:0008316) | 4.82340250 |
| 4 | Acute encephalopathy (HP:0006846) | 4.65182025 |
| 5 | Abnormality of alanine metabolism (HP:0010916) | 4.51490808 |
| 6 | Hyperalaninemia (HP:0003348) | 4.51490808 |
| 7 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 4.51490808 |
| 8 | Hepatocellular necrosis (HP:0001404) | 4.35978993 |
| 9 | Mitochondrial inheritance (HP:0001427) | 4.34839769 |
| 10 | Cerebral edema (HP:0002181) | 4.34652649 |
| 11 | Increased CSF lactate (HP:0002490) | 4.25899844 |
| 12 | Hypoglycemic coma (HP:0001325) | 4.10089402 |
| 13 | Progressive macrocephaly (HP:0004481) | 3.95308787 |
| 14 | Lipid accumulation in hepatocytes (HP:0006561) | 3.92433417 |
| 15 | Abnormality of dicarboxylic acid metabolism (HP:0010995) | 3.91568979 |
| 16 | Dicarboxylic aciduria (HP:0003215) | 3.91568979 |
| 17 | Nausea (HP:0002018) | 3.89128502 |
| 18 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 3.87938361 |
| 19 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 3.87938361 |
| 20 | Lactic acidosis (HP:0003128) | 3.87174489 |
| 21 | Increased muscle lipid content (HP:0009058) | 3.83439938 |
| 22 | Abnormality of aromatic amino acid family metabolism (HP:0004338) | 3.76459029 |
| 23 | Increased serum lactate (HP:0002151) | 3.72340162 |
| 24 | Abnormality of fatty-acid metabolism (HP:0004359) | 3.64074391 |
| 25 | Increased intramyocellular lipid droplets (HP:0012240) | 3.62668369 |
| 26 | Hyperammonemia (HP:0001987) | 3.60791748 |
| 27 | Increased hepatocellular lipid droplets (HP:0006565) | 3.52316624 |
| 28 | Abnormality of the heme biosynthetic pathway (HP:0010472) | 3.43734906 |
| 29 | Abnormality of glycolysis (HP:0004366) | 3.36077713 |
| 30 | Increased serum pyruvate (HP:0003542) | 3.36077713 |
| 31 | Abnormal number of erythroid precursors (HP:0012131) | 3.32187055 |
| 32 | Abnormality of cells of the erythroid lineage (HP:0012130) | 3.31621321 |
| 33 | Lethargy (HP:0001254) | 3.31520603 |
| 34 | Generalized aminoaciduria (HP:0002909) | 3.30587578 |
| 35 | Ketoacidosis (HP:0001993) | 3.28744402 |
| 36 | Ketosis (HP:0001946) | 3.28047388 |
| 37 | 3-Methylglutaconic aciduria (HP:0003535) | 3.12392583 |
| 38 | Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688) | 3.10676678 |
| 39 | Exercise intolerance (HP:0003546) | 3.09349184 |
| 40 | Abnormality of serum amino acid levels (HP:0003112) | 3.07305184 |
| 41 | Respiratory failure (HP:0002878) | 3.06392646 |
| 42 | Myoglobinuria (HP:0002913) | 3.01253882 |
| 43 | Rhabdomyolysis (HP:0003201) | 2.94444952 |
| 44 | Abnormality of long-chain fatty-acid metabolism (HP:0010964) | 2.92766725 |
| 45 | Proximal tubulopathy (HP:0000114) | 2.91642088 |
| 46 | Hypobetalipoproteinemia (HP:0003563) | 2.83809511 |
| 47 | Hyperglycinemia (HP:0002154) | 2.83213437 |
| 48 | Hyperglycinuria (HP:0003108) | 2.79332230 |
| 49 | Abnormality of the labia minora (HP:0012880) | 2.78809908 |
| 50 | Ragged-red muscle fibers (HP:0003200) | 2.72941817 |
| 51 | Multiple enchondromatosis (HP:0005701) | 2.71331800 |
| 52 | Abnormality of serine family amino acid metabolism (HP:0010894) | 2.70043364 |
| 53 | Abnormality of glycine metabolism (HP:0010895) | 2.70043364 |
| 54 | Abnormality of urine glucose concentration (HP:0011016) | 2.64339264 |
| 55 | Glycosuria (HP:0003076) | 2.64339264 |
| 56 | Palpitations (HP:0001962) | 2.63453872 |
| 57 | Methylmalonic aciduria (HP:0012120) | 2.63123203 |
| 58 | Renal Fanconi syndrome (HP:0001994) | 2.60013679 |
| 59 | Muscle abnormality related to mitochondrial dysfunction (HP:0003800) | 2.56543629 |
| 60 | Intrahepatic cholestasis (HP:0001406) | 2.54752872 |
| 61 | Vomiting (HP:0002013) | 2.54009633 |
| 62 | Metabolic acidosis (HP:0001942) | 2.51390190 |
| 63 | CNS demyelination (HP:0007305) | 2.48208164 |
| 64 | Oral leukoplakia (HP:0002745) | 2.45891241 |
| 65 | Cortical dysplasia (HP:0002539) | 2.44405703 |
| 66 | Microretrognathia (HP:0000308) | 2.43784447 |
| 67 | Macrocytic anemia (HP:0001972) | 2.43612569 |
| 68 | Xanthomatosis (HP:0000991) | 2.42539329 |
| 69 | Abnormality of the anterior horn cell (HP:0006802) | 2.41678874 |
| 70 | Degeneration of anterior horn cells (HP:0002398) | 2.41678874 |
| 71 | Aplastic anemia (HP:0001915) | 2.40434040 |
| 72 | Hyperlipoproteinemia (HP:0010980) | 2.40372920 |
| 73 | Reticulocytopenia (HP:0001896) | 2.37408541 |
| 74 | Prolonged partial thromboplastin time (HP:0003645) | 2.35898596 |
| 75 | Abnormality of monocarboxylic acid metabolism (HP:0010996) | 2.34838131 |
| 76 | Abnormality of aspartate family amino acid metabolism (HP:0010899) | 2.31989089 |
| 77 | Medial flaring of the eyebrow (HP:0010747) | 2.31518173 |
| 78 | Gait imbalance (HP:0002141) | 2.28081982 |
| 79 | Delayed CNS myelination (HP:0002188) | 2.26559031 |
| 80 | Congenital primary aphakia (HP:0007707) | 2.22647370 |
| 81 | Neoplasm of the adrenal gland (HP:0100631) | 2.22102145 |
| 82 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 2.21485676 |
| 83 | Neuroendocrine neoplasm (HP:0100634) | 2.20459523 |
| 84 | Abnormality of methionine metabolism (HP:0010901) | 2.19339657 |
| 85 | Retinal dysplasia (HP:0007973) | 2.16791177 |
| 86 | Hypolipoproteinemia (HP:0010981) | 2.16244304 |
| 87 | Optic disc pallor (HP:0000543) | 2.15270202 |
| 88 | True hermaphroditism (HP:0010459) | 2.14286969 |
| 89 | Pancreatic cysts (HP:0001737) | 2.13662355 |
| 90 | Reduced antithrombin III activity (HP:0001976) | 2.13565787 |
| 91 | Hyperbilirubinemia (HP:0002904) | 2.13038211 |
| 92 | Respiratory difficulties (HP:0002880) | 2.11940094 |
| 93 | Nephrogenic diabetes insipidus (HP:0009806) | 2.11231732 |
| 94 | Progressive muscle weakness (HP:0003323) | 2.08682627 |
| 95 | Cerebral hypomyelination (HP:0006808) | 2.07792644 |
| 96 | Exertional dyspnea (HP:0002875) | 2.07523687 |
| 97 | Abnormality of the level of lipoprotein cholesterol (HP:0010979) | 2.07515639 |
| 98 | Emotional lability (HP:0000712) | 2.07394665 |
| 99 | Brushfield spots (HP:0001088) | 2.03417828 |
| 100 | Conjunctival hamartoma (HP:0100780) | 2.02357388 |
| 101 | Hyperphosphaturia (HP:0003109) | 2.02056866 |
| 102 | Abnormal lung lobation (HP:0002101) | 2.01110384 |
| 103 | Late onset (HP:0003584) | 2.00661164 |
| 104 | Gliosis (HP:0002171) | 2.00230399 |
| 105 | Pallor (HP:0000980) | 2.00086822 |
| 106 | Exercise-induced muscle cramps (HP:0003710) | 1.99984727 |
| 107 | Colon cancer (HP:0003003) | 1.95559424 |
| 108 | Megaloblastic anemia (HP:0001889) | 1.95312985 |
| 109 | Myokymia (HP:0002411) | 1.94824652 |
| 110 | Leukodystrophy (HP:0002415) | 1.93752090 |
| 111 | Renal cortical cysts (HP:0000803) | 1.92188030 |
| 112 | CNS hypomyelination (HP:0003429) | 1.90423631 |
| 113 | Poor suck (HP:0002033) | 1.88847907 |
| 114 | Molar tooth sign on MRI (HP:0002419) | 1.88551781 |
| 115 | Abnormality of midbrain morphology (HP:0002418) | 1.88551781 |
| 116 | Pheochromocytoma (HP:0002666) | 1.87080086 |
| 117 | Pancreatic fibrosis (HP:0100732) | 1.86307800 |
| 118 | Methylmalonic acidemia (HP:0002912) | 1.86253847 |
| 119 | Degeneration of the lateral corticospinal tracts (HP:0002314) | 1.86158881 |
| 120 | Atrophy/Degeneration involving the corticospinal tracts (HP:0007372) | 1.86158881 |
| 121 | Microvesicular hepatic steatosis (HP:0001414) | 1.84548604 |
| 122 | Nephronophthisis (HP:0000090) | 1.82235849 |
| 123 | Abnormality of pyrimidine metabolism (HP:0004353) | 1.79830207 |
| 124 | Increased serum ferritin (HP:0003281) | 1.75424347 |
| 125 | Aplasia/hypoplasia of the uterus (HP:0008684) | 1.74949638 |
| 126 | Type II lissencephaly (HP:0007260) | 1.72795947 |
| 127 | Genital tract atresia (HP:0001827) | 1.72689477 |
| 128 | Vaginal atresia (HP:0000148) | 1.72153714 |
| 129 | Sclerocornea (HP:0000647) | 1.69458298 |
| 130 | Ependymoma (HP:0002888) | 1.68304460 |
| 131 | X-linked dominant inheritance (HP:0001423) | 1.66958380 |
| 132 | Type I transferrin isoform profile (HP:0003642) | 1.64845379 |
| 133 | Polyphagia (HP:0002591) | 1.64544778 |
| 134 | Hypoplasia of the uterus (HP:0000013) | 1.61576171 |
| 135 | Abnormality of the corticospinal tract (HP:0002492) | 1.61177718 |
| 136 | Abnormality of renal resorption (HP:0011038) | 1.60860275 |
| 137 | Anencephaly (HP:0002323) | 1.60810844 |
| 138 | Postnatal microcephaly (HP:0005484) | 1.60773473 |
| 139 | Gout (HP:0001997) | 1.59903042 |
| 140 | Horseshoe kidney (HP:0000085) | 1.59048470 |
| 141 | Occipital encephalocele (HP:0002085) | 1.58655936 |
| 142 | Upper limb muscle weakness (HP:0003484) | 1.57940585 |
| 143 | Lissencephaly (HP:0001339) | 1.57417576 |
| 144 | Abnormal respiratory epithelium morphology (HP:0012253) | 1.54226192 |
| 145 | Abnormal respiratory motile cilium morphology (HP:0005938) | 1.54226192 |
| 146 | Meckel diverticulum (HP:0002245) | 1.53300187 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | BCKDK | 4.98257205 |
| 2 | STK16 | 4.71116312 |
| 3 | NME2 | 4.68300102 |
| 4 | WEE1 | 3.61968591 |
| 5 | EIF2AK1 | 3.44436869 |
| 6 | BUB1 | 3.37129476 |
| 7 | ACVR1B | 2.89009488 |
| 8 | TRIM28 | 2.70042887 |
| 9 | NEK1 | 2.56947789 |
| 10 | MAP3K4 | 2.54092624 |
| 11 | BCR | 2.41737460 |
| 12 | MAP4K2 | 2.35689675 |
| 13 | EIF2AK3 | 2.33392503 |
| 14 | SCYL2 | 2.26160614 |
| 15 | MAP2K7 | 2.23939446 |
| 16 | NME1 | 1.97516278 |
| 17 | KDR | 1.91118300 |
| 18 | VRK1 | 1.88099589 |
| 19 | DYRK3 | 1.84457502 |
| 20 | PDK4 | 1.76930975 |
| 21 | PDK3 | 1.76930975 |
| 22 | MST4 | 1.73417737 |
| 23 | FLT3 | 1.72532134 |
| 24 | MKNK2 | 1.58607217 |
| 25 | CDC7 | 1.55025419 |
| 26 | TLK1 | 1.43205721 |
| 27 | CSNK1G2 | 1.41712366 |
| 28 | PIM2 | 1.41011647 |
| 29 | BRSK2 | 1.40946222 |
| 30 | MARK1 | 1.38925256 |
| 31 | CSNK1G1 | 1.38004932 |
| 32 | MINK1 | 1.31147995 |
| 33 | ABL2 | 1.30143862 |
| 34 | ERBB3 | 1.27636813 |
| 35 | RPS6KA4 | 1.19827974 |
| 36 | CSNK1A1L | 1.18098621 |
| 37 | TGFBR1 | 1.17503158 |
| 38 | VRK2 | 1.17110615 |
| 39 | MAP3K12 | 1.15714474 |
| 40 | OBSCN | 1.14896353 |
| 41 | PLK4 | 1.12205389 |
| 42 | BMPR1B | 1.09730714 |
| 43 | PKN2 | 1.09564108 |
| 44 | CASK | 1.08777821 |
| 45 | MAP3K11 | 1.06792980 |
| 46 | NEK2 | 1.06393123 |
| 47 | SRPK1 | 1.06231924 |
| 48 | MAPK13 | 1.06008457 |
| 49 | PINK1 | 1.04544536 |
| 50 | AURKA | 1.04034279 |
| 51 | WNK3 | 1.02785451 |
| 52 | PLK2 | 1.02753614 |
| 53 | AURKB | 1.02520990 |
| 54 | ZAK | 1.01618723 |
| 55 | TESK2 | 0.99596072 |
| 56 | PBK | 0.97433651 |
| 57 | ARAF | 0.93678226 |
| 58 | PLK1 | 0.93303420 |
| 59 | EPHA4 | 0.90038055 |
| 60 | LMTK2 | 0.87715695 |
| 61 | LIMK1 | 0.86201018 |
| 62 | CDK8 | 0.84349276 |
| 63 | PASK | 0.84020222 |
| 64 | RPS6KB2 | 0.83488979 |
| 65 | EIF2AK2 | 0.81645436 |
| 66 | MAP3K5 | 0.78378302 |
| 67 | PDK2 | 0.77387200 |
| 68 | TTK | 0.75958761 |
| 69 | PRKCG | 0.73830769 |
| 70 | TESK1 | 0.73178273 |
| 71 | PIK3CG | 0.72408922 |
| 72 | CDK4 | 0.70839727 |
| 73 | BRAF | 0.70818120 |
| 74 | MAPKAPK3 | 0.69744028 |
| 75 | CSNK2A1 | 0.68122768 |
| 76 | CDK14 | 0.66398836 |
| 77 | DYRK2 | 0.66333577 |
| 78 | MYLK | 0.65663928 |
| 79 | ERBB4 | 0.65141339 |
| 80 | TEC | 0.64443909 |
| 81 | ILK | 0.64002523 |
| 82 | EPHA2 | 0.62713144 |
| 83 | LRRK2 | 0.62255267 |
| 84 | WNK4 | 0.60697750 |
| 85 | TAOK2 | 0.60282318 |
| 86 | PNCK | 0.60071195 |
| 87 | RAF1 | 0.59873468 |
| 88 | CSNK2A2 | 0.59635761 |
| 89 | CDK7 | 0.59512977 |
| 90 | CSNK1E | 0.59274854 |
| 91 | CAMKK2 | 0.59260323 |
| 92 | BRSK1 | 0.58145850 |
| 93 | MKNK1 | 0.57943584 |
| 94 | UHMK1 | 0.57822959 |
| 95 | CCNB1 | 0.57799767 |
| 96 | KIT | 0.57196653 |
| 97 | NUAK1 | 0.55881458 |
| 98 | CAMK2A | 0.54884887 |
| 99 | TYK2 | 0.54421487 |
| 100 | STK38L | 0.54110468 |
| 101 | ADRBK2 | 0.53000001 |
| 102 | CDK18 | 0.52656050 |
| 103 | ATR | 0.51684912 |
| 104 | PHKG2 | 0.51654857 |
| 105 | PHKG1 | 0.51654857 |
| 106 | NEK9 | 0.51411498 |
| 107 | ATM | 0.51324736 |
| 108 | TIE1 | 0.49320576 |
| 109 | MAPK11 | 0.48788594 |
| 110 | MAP2K4 | 0.48724214 |
| 111 | TNIK | 0.48523661 |
| 112 | CDK11A | 0.48270525 |
| 113 | CHEK1 | 0.48144964 |
| 114 | CDK3 | 0.48059023 |
| 115 | RPS6KA5 | 0.47360180 |
| 116 | CLK1 | 0.47035419 |
| 117 | MAP3K8 | 0.46801880 |
| 118 | KSR1 | 0.45781582 |
| 119 | CHEK2 | 0.45744149 |
| 120 | CDK15 | 0.45332269 |
| 121 | DYRK1A | 0.45090233 |
| 122 | GRK1 | 0.44492770 |
| 123 | MOS | 0.43963361 |
| 124 | GRK7 | 0.41889803 |
| 125 | PRKCE | 0.40670016 |
| 126 | INSRR | 0.40662720 |
| 127 | ERN1 | 0.40550904 |
| 128 | CAMK2G | 0.39974980 |
| 129 | AKT2 | 0.39907029 |
| 130 | CAMK2D | 0.39657489 |
| 131 | CDK19 | 0.39247071 |
| 132 | CAMK2B | 0.38928381 |
| 133 | IRAK1 | 0.38672480 |
| 134 | MAPKAPK5 | 0.38538820 |
| 135 | DAPK1 | 0.38535775 |
| 136 | CSNK1A1 | 0.38434071 |
| 137 | PLK3 | 0.37614413 |
| 138 | TGFBR2 | 0.37020527 |
| 139 | MAP2K1 | 0.36858886 |
| 140 | TSSK6 | 0.36357223 |
| 141 | CDK1 | 0.36111515 |
| 142 | MAP3K3 | 0.35967414 |
| 143 | OXSR1 | 0.35160536 |
| 144 | MAP2K3 | 0.35018011 |
| 145 | TBK1 | 0.33665605 |
| 146 | IRAK3 | 0.29849768 |
| 147 | CSNK1G3 | 0.29693310 |
| 148 | DAPK3 | 0.28755637 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 3.37901918 |
| 2 | Ribosome_Homo sapiens_hsa03010 | 3.00309552 |
| 3 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 2.88019571 |
| 4 | Proteasome_Homo sapiens_hsa03050 | 2.87674775 |
| 5 | Parkinsons disease_Homo sapiens_hsa05012 | 2.85893618 |
| 6 | DNA replication_Homo sapiens_hsa03030 | 2.74769330 |
| 7 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.66288248 |
| 8 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 2.43166169 |
| 9 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 2.38331242 |
| 10 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 2.31807680 |
| 11 | Fatty acid degradation_Homo sapiens_hsa00071 | 2.23524051 |
| 12 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 2.18030561 |
| 13 | Folate biosynthesis_Homo sapiens_hsa00790 | 2.06434053 |
| 14 | Carbon metabolism_Homo sapiens_hsa01200 | 2.03794984 |
| 15 | Huntingtons disease_Homo sapiens_hsa05016 | 1.97653089 |
| 16 | Mismatch repair_Homo sapiens_hsa03430 | 1.96345708 |
| 17 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 1.94473140 |
| 18 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 1.88655830 |
| 19 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.86910590 |
| 20 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.86302181 |
| 21 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 1.83726116 |
| 22 | Alzheimers disease_Homo sapiens_hsa05010 | 1.82846176 |
| 23 | RNA polymerase_Homo sapiens_hsa03020 | 1.67596590 |
| 24 | Sulfur relay system_Homo sapiens_hsa04122 | 1.65543830 |
| 25 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 1.63818597 |
| 26 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.62860019 |
| 27 | Peroxisome_Homo sapiens_hsa04146 | 1.60727708 |
| 28 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.56965591 |
| 29 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.54624021 |
| 30 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 1.49674327 |
| 31 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.47753822 |
| 32 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 1.46972599 |
| 33 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.44962730 |
| 34 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.37899136 |
| 35 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 1.35569295 |
| 36 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 1.32941680 |
| 37 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 1.32312027 |
| 38 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.30745862 |
| 39 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.29721568 |
| 40 | Base excision repair_Homo sapiens_hsa03410 | 1.28019750 |
| 41 | Protein export_Homo sapiens_hsa03060 | 1.25928090 |
| 42 | Sulfur metabolism_Homo sapiens_hsa00920 | 1.25424894 |
| 43 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 1.22702574 |
| 44 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.21411330 |
| 45 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.18601363 |
| 46 | Nicotine addiction_Homo sapiens_hsa05033 | 1.16977067 |
| 47 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.16211813 |
| 48 | Spliceosome_Homo sapiens_hsa03040 | 1.13741236 |
| 49 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 1.13691785 |
| 50 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.13170057 |
| 51 | Homologous recombination_Homo sapiens_hsa03440 | 1.13154474 |
| 52 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.09645294 |
| 53 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 1.09216823 |
| 54 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.07944976 |
| 55 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 1.06796008 |
| 56 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.04575603 |
| 57 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 1.03152148 |
| 58 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.01261665 |
| 59 | RNA transport_Homo sapiens_hsa03013 | 0.99363676 |
| 60 | Metabolic pathways_Homo sapiens_hsa01100 | 0.91047486 |
| 61 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.87666623 |
| 62 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.87226809 |
| 63 | Purine metabolism_Homo sapiens_hsa00230 | 0.86995503 |
| 64 | Phototransduction_Homo sapiens_hsa04744 | 0.82188133 |
| 65 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.80497006 |
| 66 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.78821606 |
| 67 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.77530139 |
| 68 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.72529013 |
| 69 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.72138542 |
| 70 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.72088540 |
| 71 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.71896369 |
| 72 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.71061184 |
| 73 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.67393744 |
| 74 | Galactose metabolism_Homo sapiens_hsa00052 | 0.65651125 |
| 75 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.65593008 |
| 76 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.64558268 |
| 77 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.63449740 |
| 78 | RNA degradation_Homo sapiens_hsa03018 | 0.63291230 |
| 79 | GABAergic synapse_Homo sapiens_hsa04727 | 0.63072679 |
| 80 | Histidine metabolism_Homo sapiens_hsa00340 | 0.61978674 |
| 81 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 0.61022081 |
| 82 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.60761234 |
| 83 | Cell cycle_Homo sapiens_hsa04110 | 0.59279274 |
| 84 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.59026730 |
| 85 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.56489308 |
| 86 | Retinol metabolism_Homo sapiens_hsa00830 | 0.55850488 |
| 87 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.54853462 |
| 88 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.53308030 |
| 89 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.51314247 |
| 90 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 0.51173424 |
| 91 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.50753943 |
| 92 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.49877361 |
| 93 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.48197701 |
| 94 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 0.46493884 |
| 95 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.45003730 |
| 96 | Basal transcription factors_Homo sapiens_hsa03022 | 0.40774795 |
| 97 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.38518209 |
| 98 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.38369424 |
| 99 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.37436426 |
| 100 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.36763367 |
| 101 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.33408083 |
| 102 | Olfactory transduction_Homo sapiens_hsa04740 | 0.31967910 |
| 103 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.31348727 |
| 104 | Taste transduction_Homo sapiens_hsa04742 | 0.29871749 |
| 105 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.28479666 |
| 106 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.27966378 |
| 107 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.24914780 |
| 108 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.24247251 |
| 109 | Morphine addiction_Homo sapiens_hsa05032 | 0.21727844 |
| 110 | Legionellosis_Homo sapiens_hsa05134 | 0.21689961 |
| 111 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.21454345 |
| 112 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.20709444 |
| 113 | Alcoholism_Homo sapiens_hsa05034 | 0.20506824 |
| 114 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.19846946 |
| 115 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.18900796 |
| 116 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.11665826 |
| 117 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.10053579 |
| 118 | Bile secretion_Homo sapiens_hsa04976 | 0.09990877 |

