

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 7.08665329 |
| 2 | central nervous system myelination (GO:0022010) | 6.76737071 |
| 3 | axon ensheathment in central nervous system (GO:0032291) | 6.76737071 |
| 4 | energy coupled proton transport, down electrochemical gradient (GO:0015985) | 6.65165170 |
| 5 | ATP synthesis coupled proton transport (GO:0015986) | 6.65165170 |
| 6 | mitochondrial electron transport, NADH to ubiquinone (GO:0006120) | 6.42695908 |
| 7 | protein neddylation (GO:0045116) | 5.90605566 |
| 8 | * respiratory electron transport chain (GO:0022904) | 5.47525888 |
| 9 | chaperone-mediated protein transport (GO:0072321) | 5.38713070 |
| 10 | fatty acid elongation (GO:0030497) | 5.37860610 |
| 11 | * electron transport chain (GO:0022900) | 5.31955261 |
| 12 | long-chain fatty acid biosynthetic process (GO:0042759) | 4.80981314 |
| 13 | proteasome assembly (GO:0043248) | 4.57662558 |
| 14 | mitochondrial respiratory chain complex I assembly (GO:0032981) | 4.56952999 |
| 15 | NADH dehydrogenase complex assembly (GO:0010257) | 4.56952999 |
| 16 | mitochondrial respiratory chain complex I biogenesis (GO:0097031) | 4.56952999 |
| 17 | establishment of protein localization to mitochondrial membrane (GO:0090151) | 4.43135188 |
| 18 | ribosomal small subunit biogenesis (GO:0042274) | 4.34285586 |
| 19 | protein complex biogenesis (GO:0070271) | 4.32575433 |
| 20 | cholesterol biosynthetic process (GO:0006695) | 4.13098366 |
| 21 | translational initiation (GO:0006413) | 4.10457564 |
| 22 | chromatin remodeling at centromere (GO:0031055) | 4.00227879 |
| 23 | rRNA modification (GO:0000154) | 3.97455223 |
| 24 | termination of RNA polymerase III transcription (GO:0006386) | 3.96945003 |
| 25 | transcription elongation from RNA polymerase III promoter (GO:0006385) | 3.96945003 |
| 26 | mitochondrial respiratory chain complex assembly (GO:0033108) | 3.90203298 |
| 27 | CENP-A containing nucleosome assembly (GO:0034080) | 3.88532520 |
| 28 | cullin deneddylation (GO:0010388) | 3.83884816 |
| 29 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184) | 3.78193894 |
| 30 | ribonucleoprotein complex biogenesis (GO:0022613) | 3.78177258 |
| 31 | isoprenoid biosynthetic process (GO:0008299) | 3.75259022 |
| 32 | GTP biosynthetic process (GO:0006183) | 3.73647942 |
| 33 | L-methionine biosynthetic process from methylthioadenosine (GO:0019509) | 3.67379537 |
| 34 | sterol biosynthetic process (GO:0016126) | 3.67141399 |
| 35 | rRNA processing (GO:0006364) | 3.65626892 |
| 36 | myelination (GO:0042552) | 3.64624073 |
| 37 | pseudouridine synthesis (GO:0001522) | 3.60351264 |
| 38 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) | 3.60249859 |
| 39 | axon ensheathment (GO:0008366) | 3.59936609 |
| 40 | ensheathment of neurons (GO:0007272) | 3.59936609 |
| 41 | establishment of integrated proviral latency (GO:0075713) | 3.56505596 |
| 42 | 7-methylguanosine mRNA capping (GO:0006370) | 3.55797351 |
| 43 | RNA capping (GO:0036260) | 3.55420304 |
| 44 | 7-methylguanosine RNA capping (GO:0009452) | 3.55420304 |
| 45 | protein deneddylation (GO:0000338) | 3.53754463 |
| 46 | substantia nigra development (GO:0021762) | 3.53571178 |
| 47 | rRNA metabolic process (GO:0016072) | 3.49896626 |
| 48 | oxidative phosphorylation (GO:0006119) | 3.49399573 |
| 49 | spliceosomal snRNP assembly (GO:0000387) | 3.48213093 |
| 50 | viral transcription (GO:0019083) | 3.48104330 |
| 51 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0 | 3.43989305 |
| 52 | cotranslational protein targeting to membrane (GO:0006613) | 3.41540002 |
| 53 | translational termination (GO:0006415) | 3.40335298 |
| 54 | respiratory chain complex IV assembly (GO:0008535) | 3.35661940 |
| 55 | hydrogen ion transmembrane transport (GO:1902600) | 3.34052956 |
| 56 | protein targeting to mitochondrion (GO:0006626) | 3.32938490 |
| 57 | tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) | 3.31072004 |
| 58 | RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394) | 3.31072004 |
| 59 | protein targeting to ER (GO:0045047) | 3.29890652 |
| 60 | purine ribonucleoside triphosphate biosynthetic process (GO:0009206) | 3.29738769 |
| 61 | DNA damage response, detection of DNA damage (GO:0042769) | 3.29701933 |
| 62 | DNA replication checkpoint (GO:0000076) | 3.27095427 |
| 63 | SRP-dependent cotranslational protein targeting to membrane (GO:0006614) | 3.25561910 |
| 64 | formation of translation preinitiation complex (GO:0001731) | 3.25487300 |
| 65 | purine nucleoside triphosphate biosynthetic process (GO:0009145) | 3.25089440 |
| 66 | establishment of viral latency (GO:0019043) | 3.24875634 |
| 67 | ribosomal large subunit biogenesis (GO:0042273) | 3.23569098 |
| 68 | rRNA methylation (GO:0031167) | 3.21214137 |
| 69 | protein complex disassembly (GO:0043241) | 3.20278335 |
| 70 | histone exchange (GO:0043486) | 3.19664253 |
| 71 | inner mitochondrial membrane organization (GO:0007007) | 3.19355395 |
| 72 | protein localization to endoplasmic reticulum (GO:0070972) | 3.18816986 |
| 73 | establishment of protein localization to mitochondrion (GO:0072655) | 3.18685626 |
| 74 | water-soluble vitamin biosynthetic process (GO:0042364) | 3.18320070 |
| 75 | ATP biosynthetic process (GO:0006754) | 3.17193291 |
| 76 | establishment of protein localization to endoplasmic reticulum (GO:0072599) | 3.16480665 |
| 77 | positive regulation of ubiquitin-protein transferase activity (GO:0051443) | 3.16162519 |
| 78 | maturation of SSU-rRNA (GO:0030490) | 3.13907484 |
| 79 | UTP biosynthetic process (GO:0006228) | 3.13628693 |
| 80 | macromolecular complex disassembly (GO:0032984) | 3.13220171 |
| 81 | telomere maintenance via semi-conservative replication (GO:0032201) | 3.12898765 |
| 82 | protein targeting to membrane (GO:0006612) | 3.11580893 |
| 83 | ribosomal small subunit assembly (GO:0000028) | 3.10299310 |
| 84 | maturation of 5.8S rRNA (GO:0000460) | 3.07157994 |
| 85 | GPI anchor biosynthetic process (GO:0006506) | 3.06891703 |
| 86 | microtubule polymerization or depolymerization (GO:0031109) | 3.06415175 |
| 87 | purine nucleobase biosynthetic process (GO:0009113) | 3.05448229 |
| 88 | response to redox state (GO:0051775) | 3.05296569 |
| 89 | mitochondrial transport (GO:0006839) | 3.05083864 |
| 90 | mannosylation (GO:0097502) | 3.04001195 |
| 91 | proton transport (GO:0015992) | 3.03882893 |
| 92 | nuclear-transcribed mRNA catabolic process (GO:0000956) | 3.03765958 |
| 93 | positive regulation of ligase activity (GO:0051351) | 3.02243360 |
| 94 | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436) | 3.02160675 |
| 95 | intracellular protein transmembrane import (GO:0044743) | 3.00781159 |
| 96 | protein-cofactor linkage (GO:0018065) | 2.99823164 |
| 97 | translation (GO:0006412) | 2.99554272 |
| 98 | negative regulation of protein localization to cell surface (GO:2000009) | 2.99511851 |
| 99 | ubiquinone metabolic process (GO:0006743) | 2.99208343 |
| 100 | DNA strand elongation involved in DNA replication (GO:0006271) | 2.98983907 |
| 101 | nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291) | 2.98464324 |
| 102 | signal transduction involved in DNA integrity checkpoint (GO:0072401) | 2.98440517 |
| 103 | signal transduction involved in DNA damage checkpoint (GO:0072422) | 2.98440517 |
| 104 | regulation of cellular amino acid metabolic process (GO:0006521) | 2.97607619 |
| 105 | transcription-coupled nucleotide-excision repair (GO:0006283) | 2.96798030 |
| 106 | hydrogen transport (GO:0006818) | 2.94373796 |
| 107 | transcription elongation from RNA polymerase I promoter (GO:0006362) | 2.93709613 |
| 108 | protein localization to mitochondrion (GO:0070585) | 2.93505438 |
| 109 | negative regulation of ubiquitin-protein transferase activity (GO:0051444) | 2.93136305 |
| 110 | negative regulation of ligase activity (GO:0051352) | 2.93136305 |
| 111 | glycerophospholipid catabolic process (GO:0046475) | 2.89818416 |
| 112 | cellular protein complex disassembly (GO:0043624) | 2.83748457 |
| 113 | ribonucleoside triphosphate biosynthetic process (GO:0009201) | 2.82103298 |
| 114 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 2.82015567 |
| 115 | quinone biosynthetic process (GO:1901663) | 2.81748874 |
| 116 | ubiquinone biosynthetic process (GO:0006744) | 2.81748874 |
| 117 | guanosine-containing compound biosynthetic process (GO:1901070) | 2.80740607 |
| 118 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00 | 2.80254226 |
| 119 | preassembly of GPI anchor in ER membrane (GO:0016254) | 2.80221459 |
| 120 | cellular component biogenesis (GO:0044085) | 2.80052506 |
| 121 | negative regulation of neurotransmitter transport (GO:0051589) | 2.79310477 |
| 122 | amino acid salvage (GO:0043102) | 2.77320979 |
| 123 | L-methionine salvage (GO:0071267) | 2.77320979 |
| 124 | L-methionine biosynthetic process (GO:0071265) | 2.77320979 |
| 125 | viral life cycle (GO:0019058) | 2.76517217 |
| 126 | GPI anchor metabolic process (GO:0006505) | 2.75442452 |
| 127 | translational elongation (GO:0006414) | 2.73437200 |
| 128 | positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437) | 2.73206916 |
| 129 | intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400) | 2.72952633 |
| 130 | signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431) | 2.72952633 |
| 131 | peptidyl-histidine modification (GO:0018202) | 2.71716703 |
| 132 | regulation of mitochondrial translation (GO:0070129) | 2.71527534 |
| 133 | transcription from RNA polymerase I promoter (GO:0006360) | 2.71215522 |
| 134 | cytochrome complex assembly (GO:0017004) | 2.71212440 |
| 135 | signal transduction involved in mitotic DNA damage checkpoint (GO:1902402) | 2.68902868 |
| 136 | signal transduction involved in mitotic cell cycle checkpoint (GO:0072413) | 2.68902868 |
| 137 | signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403) | 2.68902868 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 5.40869736 |
| 2 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 4.68659209 |
| 3 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 4.23031471 |
| 4 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 3.80413869 |
| 5 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 3.61788861 |
| 6 | * JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 3.20807889 |
| 7 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 3.17273998 |
| 8 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 3.10305902 |
| 9 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 3.08896492 |
| 10 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 3.00156240 |
| 11 | * HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 2.99647705 |
| 12 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 2.87129431 |
| 13 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 2.75351782 |
| 14 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 2.56421270 |
| 15 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 2.27718724 |
| 16 | TAF15_26573619_Chip-Seq_HEK293_Human | 2.19747299 |
| 17 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 2.14348379 |
| 18 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 2.09621121 |
| 19 | SRF_21415370_ChIP-Seq_HL-1_Mouse | 2.03049185 |
| 20 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 1.97152201 |
| 21 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.95741760 |
| 22 | VDR_23849224_ChIP-Seq_CD4+_Human | 1.89251190 |
| 23 | FUS_26573619_Chip-Seq_HEK293_Human | 1.87200000 |
| 24 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.81545013 |
| 25 | ELK1_19687146_ChIP-ChIP_HELA_Human | 1.77969924 |
| 26 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.71688540 |
| 27 | VDR_22108803_ChIP-Seq_LS180_Human | 1.70881017 |
| 28 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 1.69989114 |
| 29 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.67910278 |
| 30 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.67895962 |
| 31 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.62711297 |
| 32 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.62151781 |
| 33 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 1.61671417 |
| 34 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.61486651 |
| 35 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 1.61145794 |
| 36 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.53030594 |
| 37 | E2F1_18555785_ChIP-Seq_MESCs_Mouse | 1.51387214 |
| 38 | FOXP3_21729870_ChIP-Seq_TREG_Human | 1.50785903 |
| 39 | SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.50237482 |
| 40 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.49239822 |
| 41 | FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 1.48756376 |
| 42 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.48296656 |
| 43 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.48264785 |
| 44 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 1.48184330 |
| 45 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 1.47627253 |
| 46 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 1.44561135 |
| 47 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.43628648 |
| 48 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.43034627 |
| 49 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.40906380 |
| 50 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.39589300 |
| 51 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 1.38967197 |
| 52 | XRN2_22483619_ChIP-Seq_HELA_Human | 1.38678380 |
| 53 | EWS_26573619_Chip-Seq_HEK293_Human | 1.34796483 |
| 54 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.33061643 |
| 55 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 1.30400710 |
| 56 | ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.27319783 |
| 57 | HNF4A_19761587_ChIP-ChIP_CACO-2_Human | 1.26600737 |
| 58 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 1.25921235 |
| 59 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.23741012 |
| 60 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 1.22548351 |
| 61 | KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 1.22427858 |
| 62 | YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.22146382 |
| 63 | E2F7_22180533_ChIP-Seq_HELA_Human | 1.21493712 |
| 64 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.19547486 |
| 65 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.18970131 |
| 66 | CEBPB_24764292_ChIP-Seq_MC3T3_Mouse | 1.18545242 |
| 67 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 1.17924024 |
| 68 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.17466323 |
| 69 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.16741752 |
| 70 | KDM5A_27292631_Chip-Seq_BREAST_Human | 1.15214762 |
| 71 | ASH2L_23239880_ChIP-Seq_MESCs_Mouse | 1.15131004 |
| 72 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.13817967 |
| 73 | ELK1_22589737_ChIP-Seq_MCF10A_Human | 1.13310653 |
| 74 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.12848930 |
| 75 | HOXB4_20404135_ChIP-ChIP_EML_Mouse | 1.12714644 |
| 76 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 1.12575673 |
| 77 | GABP_19822575_ChIP-Seq_HepG2_Human | 1.12191472 |
| 78 | OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.12143463 |
| 79 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.09564022 |
| 80 | ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 1.08031255 |
| 81 | SOX17_20123909_ChIP-Seq_XEN_Mouse | 1.07779621 |
| 82 | NANOG_16153702_ChIP-ChIP_HESCs_Human | 1.07775790 |
| 83 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.06670445 |
| 84 | P300_19829295_ChIP-Seq_ESCs_Human | 1.05054174 |
| 85 | NANOG_18555785_ChIP-Seq_MESCs_Mouse | 1.04064099 |
| 86 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.03973809 |
| 87 | E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human | 1.01822819 |
| 88 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 1.01042222 |
| 89 | IGF1R_20145208_ChIP-Seq_DFB_Human | 0.99938098 |
| 90 | CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human | 0.97460728 |
| 91 | PADI4_21655091_ChIP-ChIP_MCF-7_Human | 0.97086582 |
| 92 | SOX2_18555785_ChIP-Seq_MESCs_Mouse | 0.96596464 |
| 93 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 0.96129378 |
| 94 | ERG_20887958_ChIP-Seq_HPC-7_Mouse | 0.96080906 |
| 95 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 0.95739575 |
| 96 | ZNF274_21170338_ChIP-Seq_K562_Hela | 0.95063866 |
| 97 | POU5F1_18358816_ChIP-ChIP_MESCs_Mouse | 0.94768312 |
| 98 | FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse | 0.94702060 |
| 99 | BCL3_23251550_ChIP-Seq_MUSCLE_Mouse | 0.93460777 |
| 100 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 0.93048689 |
| 101 | P300_18555785_Chip-Seq_ESCs_Mouse | 0.92492338 |
| 102 | SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse | 0.92489145 |
| 103 | CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 0.91108902 |
| 104 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 0.91048528 |
| 105 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 0.90679115 |
| 106 | TAL1_20887958_ChIP-Seq_HPC-7_Mouse | 0.90602035 |
| 107 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 0.90592833 |
| 108 | EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 0.89880970 |
| 109 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 0.89125146 |
| 110 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 0.88332393 |
| 111 | HTT_18923047_ChIP-ChIP_STHdh_Human | 0.88058182 |
| 112 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 0.87074951 |
| 113 | SOX2_16153702_ChIP-ChIP_HESCs_Human | 0.86626913 |
| 114 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 0.85929344 |
| 115 | JUN_21703547_ChIP-Seq_K562_Human | 0.85416287 |
| 116 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 0.84181276 |
| 117 | P53_22387025_ChIP-Seq_ESCs_Mouse | 0.83381041 |
| 118 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 0.80662291 |
| 119 | RUNX1_27457419_Chip-Seq_LIVER_Mouse | 0.80186152 |
| 120 | CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse | 0.80096690 |
| 121 | NOTCH1_21737748_ChIP-Seq_TLL_Human | 0.79863779 |
| 122 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 0.79388910 |
| 123 | SOX2_18555785_Chip-Seq_ESCs_Mouse | 0.78789296 |
| 124 | E2F1_18555785_Chip-Seq_ESCs_Mouse | 0.78310956 |
| 125 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 0.78105992 |
| 126 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 0.78089053 |
| 127 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 0.78052098 |
| 128 | KLF4_19030024_ChIP-ChIP_MESCs_Mouse | 0.77103898 |
| 129 | ELF5_23300383_ChIP-Seq_T47D_Human | 0.76953084 |
| 130 | FLI1_20887958_ChIP-Seq_HPC-7_Mouse | 0.76077184 |
| 131 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 0.75244372 |
| 132 | * CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 0.74744333 |
| 133 | PRDM5_23873026_ChIP-Seq_MEFs_Mouse | 0.72084938 |
| 134 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 0.70273458 |
| 135 | CNOT3_19339689_ChIP-ChIP_MESCs_Mouse | 0.69993900 |
| 136 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 0.69720537 |
| 137 | TP53_22573176_ChIP-Seq_HFKS_Human | 0.69031552 |
| 138 | TFEB_21752829_ChIP-Seq_HELA_Human | 0.68699798 |
| 139 | TRIM28_19339689_ChIP-ChIP_MESCs_Mouse | 0.67383857 |
| 140 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 0.67060605 |
| 141 | SOX2_19030024_ChIP-ChIP_MESCs_Mouse | 0.66979540 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0001529_abnormal_vocalization | 4.47323286 |
| 2 | MP0003880_abnormal_central_pattern | 3.86670943 |
| 3 | MP0009379_abnormal_foot_pigmentation | 3.12320707 |
| 4 | MP0001905_abnormal_dopamine_level | 3.08984326 |
| 5 | MP0000920_abnormal_myelination | 3.08630107 |
| 6 | MP0003136_yellow_coat_color | 2.89038598 |
| 7 | MP0003111_abnormal_nucleus_morphology | 2.57007708 |
| 8 | MP0005409_darkened_coat_color | 2.29362719 |
| 9 | MP0004142_abnormal_muscle_tone | 2.26638349 |
| 10 | MP0000566_synostosis | 2.26546030 |
| 11 | MP0003941_abnormal_skin_development | 2.23479623 |
| 12 | MP0008057_abnormal_DNA_replication | 2.13839041 |
| 13 | MP0008877_abnormal_DNA_methylation | 2.06971865 |
| 14 | MP0002102_abnormal_ear_morphology | 2.05028212 |
| 15 | MP0008007_abnormal_cellular_replicative | 1.99776674 |
| 16 | MP0006276_abnormal_autonomic_nervous | 1.98861817 |
| 17 | MP0005410_abnormal_fertilization | 1.96653674 |
| 18 | MP0006072_abnormal_retinal_apoptosis | 1.93896319 |
| 19 | MP0008932_abnormal_embryonic_tissue | 1.92528449 |
| 20 | MP0003806_abnormal_nucleotide_metabolis | 1.89788992 |
| 21 | MP0001485_abnormal_pinna_reflex | 1.89044275 |
| 22 | MP0002272_abnormal_nervous_system | 1.86817088 |
| 23 | MP0003950_abnormal_plasma_membrane | 1.85395854 |
| 24 | MP0005171_absent_coat_pigmentation | 1.80372085 |
| 25 | MP0004742_abnormal_vestibular_system | 1.80107577 |
| 26 | MP0002837_dystrophic_cardiac_calcinosis | 1.78264164 |
| 27 | MP0003718_maternal_effect | 1.73225624 |
| 28 | MP0001486_abnormal_startle_reflex | 1.72283772 |
| 29 | MP0006036_abnormal_mitochondrial_physio | 1.67860138 |
| 30 | MP0001293_anophthalmia | 1.67046026 |
| 31 | MP0008789_abnormal_olfactory_epithelium | 1.64682019 |
| 32 | MP0002736_abnormal_nociception_after | 1.63320075 |
| 33 | MP0004270_analgesia | 1.62759577 |
| 34 | MP0001986_abnormal_taste_sensitivity | 1.61229927 |
| 35 | MP0000778_abnormal_nervous_system | 1.56856261 |
| 36 | MP0005423_abnormal_somatic_nervous | 1.56204934 |
| 37 | MP0005084_abnormal_gallbladder_morpholo | 1.51913097 |
| 38 | MP0002163_abnormal_gland_morphology | 1.49266965 |
| 39 | MP0006292_abnormal_olfactory_placode | 1.47567509 |
| 40 | MP0002160_abnormal_reproductive_system | 1.47019083 |
| 41 | MP0005451_abnormal_body_composition | 1.46070812 |
| 42 | MP0002064_seizures | 1.40863445 |
| 43 | MP0002234_abnormal_pharynx_morphology | 1.40481935 |
| 44 | MP0001188_hyperpigmentation | 1.39406158 |
| 45 | MP0001968_abnormal_touch/_nociception | 1.39080350 |
| 46 | MP0004381_abnormal_hair_follicle | 1.36642481 |
| 47 | MP0010030_abnormal_orbit_morphology | 1.33794187 |
| 48 | MP0002734_abnormal_mechanical_nocicepti | 1.33385048 |
| 49 | MP0003938_abnormal_ear_development | 1.30516467 |
| 50 | MP0003567_abnormal_fetal_cardiomyocyte | 1.28725232 |
| 51 | MP0009745_abnormal_behavioral_response | 1.28604918 |
| 52 | MP0008058_abnormal_DNA_repair | 1.27518771 |
| 53 | MP0001963_abnormal_hearing_physiology | 1.24700544 |
| 54 | MP0004957_abnormal_blastocyst_morpholog | 1.24587491 |
| 55 | MP0002735_abnormal_chemical_nociception | 1.23192717 |
| 56 | MP0009046_muscle_twitch | 1.22438335 |
| 57 | MP0006035_abnormal_mitochondrial_morpho | 1.22331927 |
| 58 | MP0008260_abnormal_autophagy | 1.21895185 |
| 59 | MP0004147_increased_porphyrin_level | 1.20970487 |
| 60 | MP0003186_abnormal_redox_activity | 1.20745252 |
| 61 | MP0010094_abnormal_chromosome_stability | 1.20630585 |
| 62 | MP0000358_abnormal_cell_content/ | 1.18681424 |
| 63 | MP0004134_abnormal_chest_morphology | 1.15753586 |
| 64 | MP0000049_abnormal_middle_ear | 1.15186348 |
| 65 | MP0005408_hypopigmentation | 1.15161929 |
| 66 | MP0000372_irregular_coat_pigmentation | 1.14902626 |
| 67 | MP0001764_abnormal_homeostasis | 1.14235719 |
| 68 | MP0002229_neurodegeneration | 1.12198584 |
| 69 | MP0003634_abnormal_glial_cell | 1.10171999 |
| 70 | MP0009697_abnormal_copulation | 1.09662971 |
| 71 | MP0003315_abnormal_perineum_morphology | 1.08970341 |
| 72 | MP0005551_abnormal_eye_electrophysiolog | 1.08894014 |
| 73 | MP0002752_abnormal_somatic_nervous | 1.08211322 |
| 74 | MP0001984_abnormal_olfaction | 1.08154651 |
| 75 | MP0001970_abnormal_pain_threshold | 1.07817691 |
| 76 | MP0002572_abnormal_emotion/affect_behav | 1.07769645 |
| 77 | MP0000026_abnormal_inner_ear | 1.07216168 |
| 78 | MP0003123_paternal_imprinting | 1.06922262 |
| 79 | MP0005379_endocrine/exocrine_gland_phen | 1.06070872 |
| 80 | MP0000462_abnormal_digestive_system | 1.05649654 |
| 81 | MP0002638_abnormal_pupillary_reflex | 1.05593223 |
| 82 | MP0005386_behavior/neurological_phenoty | 1.05551956 |
| 83 | MP0004924_abnormal_behavior | 1.05551956 |
| 84 | MP0002067_abnormal_sensory_capabilities | 1.04656955 |
| 85 | MP0001440_abnormal_grooming_behavior | 1.04368634 |
| 86 | MP0000350_abnormal_cell_proliferation | 1.03915167 |
| 87 | MP0002938_white_spotting | 1.02939018 |
| 88 | MP0002233_abnormal_nose_morphology | 1.01929066 |
| 89 | MP0003698_abnormal_male_reproductive | 1.01148170 |
| 90 | MP0001929_abnormal_gametogenesis | 1.00899439 |
| 91 | MP0001286_abnormal_eye_development | 0.99859837 |
| 92 | MP0005389_reproductive_system_phenotype | 0.98476928 |
| 93 | MP0002210_abnormal_sex_determination | 0.97967287 |
| 94 | MP0002090_abnormal_vision | 0.97380247 |
| 95 | MP0003937_abnormal_limbs/digits/tail_de | 0.97326326 |
| 96 | MP0005332_abnormal_amino_acid | 0.96744942 |
| 97 | MP0003693_abnormal_embryo_hatching | 0.95453346 |
| 98 | MP0002697_abnormal_eye_size | 0.94440474 |
| 99 | MP0002751_abnormal_autonomic_nervous | 0.94344358 |
| 100 | MP0001697_abnormal_embryo_size | 0.93074233 |
| 101 | MP0008995_early_reproductive_senescence | 0.92410888 |
| 102 | MP0001727_abnormal_embryo_implantation | 0.92203688 |
| 103 | MP0002882_abnormal_neuron_morphology | 0.91892486 |
| 104 | MP0005499_abnormal_olfactory_system | 0.91411117 |
| 105 | MP0005394_taste/olfaction_phenotype | 0.91411117 |
| 106 | MP0001730_embryonic_growth_arrest | 0.88082906 |
| 107 | MP0003635_abnormal_synaptic_transmissio | 0.87563918 |
| 108 | MP0004145_abnormal_muscle_electrophysio | 0.86924784 |
| 109 | MP0003786_premature_aging | 0.86764217 |
| 110 | MP0000749_muscle_degeneration | 0.86705415 |
| 111 | MP0002066_abnormal_motor_capabilities/c | 0.85875768 |
| 112 | MP0009250_abnormal_appendicular_skeleto | 0.85764723 |
| 113 | MP0005253_abnormal_eye_physiology | 0.85642827 |
| 114 | MP0001881_abnormal_mammary_gland | 0.85613213 |
| 115 | MP0000647_abnormal_sebaceous_gland | 0.84521178 |
| 116 | MP0003632_abnormal_nervous_system | 0.84422374 |
| 117 | MP0003121_genomic_imprinting | 0.84153689 |
| 118 | MP0004215_abnormal_myocardial_fiber | 0.83752413 |
| 119 | MP0000631_abnormal_neuroendocrine_gland | 0.80689214 |
| 120 | MP0003077_abnormal_cell_cycle | 0.80381818 |
| 121 | MP0001299_abnormal_eye_distance/ | 0.79420058 |
| 122 | MP0002085_abnormal_embryonic_tissue | 0.79073086 |
| 123 | MP0003011_delayed_dark_adaptation | 0.78996848 |
| 124 | MP0002733_abnormal_thermal_nociception | 0.78525569 |
| 125 | MP0003787_abnormal_imprinting | 0.78509306 |
| 126 | MP0003690_abnormal_glial_cell | 0.78431644 |
| 127 | MP0003755_abnormal_palate_morphology | 0.77474301 |
| 128 | MP0001145_abnormal_male_reproductive | 0.77133095 |
| 129 | MP0002277_abnormal_respiratory_mucosa | 0.77123057 |
| 130 | MP0005645_abnormal_hypothalamus_physiol | 0.76865612 |
| 131 | MP0000653_abnormal_sex_gland | 0.74708321 |
| 132 | MP0003137_abnormal_impulse_conducting | 0.74645793 |
| 133 | MP0000955_abnormal_spinal_cord | 0.73948943 |
| 134 | MP0003122_maternal_imprinting | 0.73907929 |
| 135 | MP0002177_abnormal_outer_ear | 0.73802111 |
| 136 | MP0005195_abnormal_posterior_eye | 0.73150107 |
| 137 | MP0001348_abnormal_lacrimal_gland | 0.73014385 |
| 138 | MP0000762_abnormal_tongue_morphology | 0.71861089 |
| 139 | MP0000313_abnormal_cell_death | 0.69322954 |
| 140 | MP0003195_calcinosis | 0.68913426 |
| 141 | MP0005395_other_phenotype | 0.66109478 |
| 142 | MP0002084_abnormal_developmental_patter | 0.65093228 |
| 143 | MP0005391_vision/eye_phenotype | 0.65030340 |
| 144 | MP0002184_abnormal_innervation | 0.64892337 |
| 145 | MP0002080_prenatal_lethality | 0.64890649 |
| 146 | MP0005266_abnormal_metabolism | 0.62694955 |
| 147 | MP0002111_abnormal_tail_morphology | 0.62200921 |
| 148 | MP0001542_abnormal_bone_strength | 0.61888694 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | * Acute necrotizing encephalopathy (HP:0006965) | 5.60656571 |
| 2 | * Mitochondrial inheritance (HP:0001427) | 5.12421165 |
| 3 | * Abnormal mitochondria in muscle tissue (HP:0008316) | 4.88807918 |
| 4 | Increased hepatocellular lipid droplets (HP:0006565) | 4.83095945 |
| 5 | Congenital nonbullous ichthyosiform erythroderma (HP:0007479) | 4.66933314 |
| 6 | * Progressive macrocephaly (HP:0004481) | 4.61480731 |
| 7 | * Acute encephalopathy (HP:0006846) | 4.51404640 |
| 8 | Renal Fanconi syndrome (HP:0001994) | 4.40115740 |
| 9 | Abnormality of glycolysis (HP:0004366) | 4.40002455 |
| 10 | Increased serum pyruvate (HP:0003542) | 4.40002455 |
| 11 | * Increased CSF lactate (HP:0002490) | 4.30629084 |
| 12 | Lipid accumulation in hepatocytes (HP:0006561) | 4.26021406 |
| 13 | * Hepatocellular necrosis (HP:0001404) | 4.21667506 |
| 14 | Parakeratosis (HP:0001036) | 4.12808246 |
| 15 | 3-Methylglutaconic aciduria (HP:0003535) | 3.94035074 |
| 16 | Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688) | 3.93867817 |
| 17 | * Leukodystrophy (HP:0002415) | 3.64232049 |
| 18 | Muscle abnormality related to mitochondrial dysfunction (HP:0003800) | 3.64119987 |
| 19 | Sensory axonal neuropathy (HP:0003390) | 3.63251801 |
| 20 | Cerebral hypomyelination (HP:0006808) | 3.50944949 |
| 21 | Atrophy/Degeneration involving the corticospinal tracts (HP:0007372) | 3.43090791 |
| 22 | Degeneration of the lateral corticospinal tracts (HP:0002314) | 3.43090791 |
| 23 | Increased intramyocellular lipid droplets (HP:0012240) | 3.36246355 |
| 24 | Exertional dyspnea (HP:0002875) | 3.36189627 |
| 25 | * Hepatic necrosis (HP:0002605) | 3.35868651 |
| 26 | Congenital ichthyosiform erythroderma (HP:0007431) | 3.15021125 |
| 27 | * Respiratory failure (HP:0002878) | 3.06458396 |
| 28 | * Increased serum lactate (HP:0002151) | 2.91422807 |
| 29 | * Optic disc pallor (HP:0000543) | 2.90488038 |
| 30 | * Cerebral edema (HP:0002181) | 2.85103345 |
| 31 | * Exercise intolerance (HP:0003546) | 2.83087113 |
| 32 | Abnormality of renal resorption (HP:0011038) | 2.82617006 |
| 33 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 2.80680119 |
| 34 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 2.80680119 |
| 35 | Abnormality of cells of the erythroid lineage (HP:0012130) | 2.76203309 |
| 36 | Colon cancer (HP:0003003) | 2.72296584 |
| 37 | Respiratory difficulties (HP:0002880) | 2.71599239 |
| 38 | Increased muscle lipid content (HP:0009058) | 2.69209494 |
| 39 | * Lactic acidosis (HP:0003128) | 2.65266262 |
| 40 | Reticulocytopenia (HP:0001896) | 2.56251480 |
| 41 | Abnormality of methionine metabolism (HP:0010901) | 2.54232902 |
| 42 | Abnormal number of erythroid precursors (HP:0012131) | 2.50403342 |
| 43 | Retinal dysplasia (HP:0007973) | 2.49847982 |
| 44 | Aplastic anemia (HP:0001915) | 2.45884968 |
| 45 | Hypoplastic pelvis (HP:0008839) | 2.39243655 |
| 46 | Medial flaring of the eyebrow (HP:0010747) | 2.38383390 |
| 47 | Oral leukoplakia (HP:0002745) | 2.35535281 |
| 48 | * Lethargy (HP:0001254) | 2.35451012 |
| 49 | Degeneration of anterior horn cells (HP:0002398) | 2.31523128 |
| 50 | Abnormality of the anterior horn cell (HP:0006802) | 2.31523128 |
| 51 | Type I transferrin isoform profile (HP:0003642) | 2.31245998 |
| 52 | Congenital, generalized hypertrichosis (HP:0004540) | 2.29859995 |
| 53 | Irregular epiphyses (HP:0010582) | 2.26892511 |
| 54 | Macrocytic anemia (HP:0001972) | 2.26606328 |
| 55 | Meckel diverticulum (HP:0002245) | 2.23787840 |
| 56 | Abnormality of the corticospinal tract (HP:0002492) | 2.22894634 |
| 57 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 2.22420738 |
| 58 | Abnormality of alanine metabolism (HP:0010916) | 2.22420738 |
| 59 | Hyperalaninemia (HP:0003348) | 2.22420738 |
| 60 | Adrenal hypoplasia (HP:0000835) | 2.21814958 |
| 61 | Duplicated collecting system (HP:0000081) | 2.20948401 |
| 62 | Peripheral hypomyelination (HP:0007182) | 2.20310567 |
| 63 | Amniotic constriction ring (HP:0009775) | 2.19834223 |
| 64 | Abnormality of placental membranes (HP:0011409) | 2.19834223 |
| 65 | Chromsome breakage (HP:0040012) | 2.18415801 |
| 66 | Vaginal atresia (HP:0000148) | 2.17994261 |
| 67 | Neuroendocrine neoplasm (HP:0100634) | 2.13841377 |
| 68 | Genital tract atresia (HP:0001827) | 2.12418576 |
| 69 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 2.12284480 |
| 70 | Abnormality of the ileum (HP:0001549) | 2.10601237 |
| 71 | Gait imbalance (HP:0002141) | 2.10081061 |
| 72 | Microvesicular hepatic steatosis (HP:0001414) | 2.08488525 |
| 73 | Methylmalonic acidemia (HP:0002912) | 2.07744940 |
| 74 | Stenosis of the external auditory canal (HP:0000402) | 2.07504942 |
| 75 | Absent thumb (HP:0009777) | 2.06800691 |
| 76 | Congenital primary aphakia (HP:0007707) | 2.06729833 |
| 77 | Pheochromocytoma (HP:0002666) | 2.06690048 |
| 78 | Hypoglycemic coma (HP:0001325) | 2.06203207 |
| 79 | Spastic paraparesis (HP:0002313) | 2.03645410 |
| 80 | Neurofibrillary tangles (HP:0002185) | 2.03543242 |
| 81 | Abnormality of aspartate family amino acid metabolism (HP:0010899) | 2.02747650 |
| 82 | CNS hypomyelination (HP:0003429) | 2.02095419 |
| 83 | Abnormality of serum amino acid levels (HP:0003112) | 2.01035775 |
| 84 | Absent septum pellucidum (HP:0001331) | 2.00978745 |
| 85 | Hyperglycinemia (HP:0002154) | 2.00701344 |
| 86 | Pancytopenia (HP:0001876) | 2.00317394 |
| 87 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 1.98904354 |
| 88 | Abnormality of the septum pellucidum (HP:0007375) | 1.98155540 |
| 89 | Myokymia (HP:0002411) | 1.97880647 |
| 90 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 1.97791857 |
| 91 | Abnormal protein glycosylation (HP:0012346) | 1.97042128 |
| 92 | Abnormal glycosylation (HP:0012345) | 1.97042128 |
| 93 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 1.97042128 |
| 94 | Abnormal protein N-linked glycosylation (HP:0012347) | 1.97042128 |
| 95 | Generalized aminoaciduria (HP:0002909) | 1.96906419 |
| 96 | Megaloblastic anemia (HP:0001889) | 1.96893363 |
| 97 | Nephrogenic diabetes insipidus (HP:0009806) | 1.94559397 |
| 98 | Abnormality of the preputium (HP:0100587) | 1.93953836 |
| 99 | Molar tooth sign on MRI (HP:0002419) | 1.89776039 |
| 100 | Abnormality of midbrain morphology (HP:0002418) | 1.89776039 |
| 101 | Cerebral hemorrhage (HP:0001342) | 1.89208634 |
| 102 | Reduced antithrombin III activity (HP:0001976) | 1.89066385 |
| 103 | Sparse eyelashes (HP:0000653) | 1.88748408 |
| 104 | Pancreatic cysts (HP:0001737) | 1.87794497 |
| 105 | Abnormality of the renal collecting system (HP:0004742) | 1.87246811 |
| 106 | Birth length less than 3rd percentile (HP:0003561) | 1.86304204 |
| 107 | Autoamputation (HP:0001218) | 1.85076702 |
| 108 | Duplication of thumb phalanx (HP:0009942) | 1.83281743 |
| 109 | * CNS demyelination (HP:0007305) | 1.83269205 |
| 110 | Absent/shortened dynein arms (HP:0200106) | 1.82858171 |
| 111 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 1.82858171 |
| 112 | Abnormality of chromosome stability (HP:0003220) | 1.82395847 |
| 113 | * X-linked dominant inheritance (HP:0001423) | 1.81979268 |
| 114 | Abnormal ciliary motility (HP:0012262) | 1.80999611 |
| 115 | Abnormality of aromatic amino acid family metabolism (HP:0004338) | 1.79979516 |
| 116 | Pancreatic fibrosis (HP:0100732) | 1.79045980 |
| 117 | Breast hypoplasia (HP:0003187) | 1.78565882 |
| 118 | Hyperphosphaturia (HP:0003109) | 1.76348773 |
| 119 | Cleft eyelid (HP:0000625) | 1.75710645 |
| 120 | Pallor (HP:0000980) | 1.72584367 |
| 121 | Abnormality of urine glucose concentration (HP:0011016) | 1.72079112 |
| 122 | Glycosuria (HP:0003076) | 1.72079112 |
| 123 | * Emotional lability (HP:0000712) | 1.71138227 |
| 124 | Multiple enchondromatosis (HP:0005701) | 1.71002172 |
| 125 | Horseshoe kidney (HP:0000085) | 1.70725096 |
| 126 | Triphalangeal thumb (HP:0001199) | 1.70305587 |
| 127 | Testicular atrophy (HP:0000029) | 1.69582270 |
| 128 | Abnormal hair whorl (HP:0010721) | 1.69342975 |
| 129 | Hypoplastic left heart (HP:0004383) | 1.68438069 |
| 130 | Delusions (HP:0000746) | 1.68121291 |
| 131 | Methylmalonic aciduria (HP:0012120) | 1.67352930 |
| 132 | Abnormal number of incisors (HP:0011064) | 1.67247825 |
| 133 | Nasolacrimal duct obstruction (HP:0000579) | 1.66164619 |
| 134 | Erythroderma (HP:0001019) | 1.65546357 |
| 135 | Hepatosplenomegaly (HP:0001433) | 1.64805730 |
| 136 | Poor suck (HP:0002033) | 1.63432532 |
| 137 | Rough bone trabeculation (HP:0100670) | 1.62744753 |
| 138 | Aplasia/Hypoplasia of the tibia (HP:0005772) | 1.62199961 |
| 139 | Nephronophthisis (HP:0000090) | 1.61586502 |
| 140 | Septo-optic dysplasia (HP:0100842) | 1.60673215 |
| 141 | * Blindness (HP:0000618) | 1.60504996 |
| 142 | Abnormality of the labia minora (HP:0012880) | 1.60371160 |
| 143 | Abnormal respiratory motile cilium morphology (HP:0005938) | 1.59928056 |
| 144 | Abnormal respiratory epithelium morphology (HP:0012253) | 1.59928056 |
| 145 | Absent epiphyses (HP:0010577) | 1.59602379 |
| 146 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.59602379 |
| 147 | Abnormal lung lobation (HP:0002101) | 1.59324736 |
| 148 | Hyperinsulinemic hypoglycemia (HP:0000825) | 1.59224163 |
| 149 | Alacrima (HP:0000522) | 1.58961372 |
| 150 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.55878288 |
| 151 | Cupped ear (HP:0000378) | 1.55724682 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | STK39 | 4.67063487 |
| 2 | VRK2 | 4.64150098 |
| 3 | OXSR1 | 3.14027922 |
| 4 | PBK | 3.05713647 |
| 5 | NEK1 | 2.74018186 |
| 6 | MST4 | 2.71282570 |
| 7 | TNIK | 2.48715667 |
| 8 | STK16 | 2.42422337 |
| 9 | BCR | 2.40196199 |
| 10 | CASK | 2.40128073 |
| 11 | EIF2AK1 | 2.31720758 |
| 12 | NME1 | 2.18681771 |
| 13 | BUB1 | 2.12138676 |
| 14 | NME2 | 2.05665104 |
| 15 | CDK19 | 2.05658245 |
| 16 | TLK1 | 1.98950063 |
| 17 | ZAK | 1.90969831 |
| 18 | PNCK | 1.85486747 |
| 19 | MAPKAPK5 | 1.81938638 |
| 20 | WNK4 | 1.81202921 |
| 21 | MKNK1 | 1.77031528 |
| 22 | ARAF | 1.74438691 |
| 23 | TRIM28 | 1.74214003 |
| 24 | MUSK | 1.73725484 |
| 25 | VRK1 | 1.66842655 |
| 26 | PDK2 | 1.64626025 |
| 27 | WEE1 | 1.57874731 |
| 28 | LIMK1 | 1.55960238 |
| 29 | PKN1 | 1.50500932 |
| 30 | TAF1 | 1.50494686 |
| 31 | NEK6 | 1.39683471 |
| 32 | DYRK2 | 1.37414322 |
| 33 | EIF2AK3 | 1.34723803 |
| 34 | CSNK1G3 | 1.31149815 |
| 35 | SRPK1 | 1.30981906 |
| 36 | BMPR1B | 1.30460534 |
| 37 | UHMK1 | 1.30044415 |
| 38 | GRK7 | 1.20918431 |
| 39 | EPHB1 | 1.17205513 |
| 40 | IRAK2 | 1.12359510 |
| 41 | MAP4K2 | 1.11899374 |
| 42 | PLK4 | 1.10653878 |
| 43 | PLK2 | 1.09222574 |
| 44 | MKNK2 | 1.08006702 |
| 45 | MAP2K7 | 1.07675530 |
| 46 | AURKB | 1.05753278 |
| 47 | BRAF | 1.03470736 |
| 48 | MAPK13 | 1.02067469 |
| 49 | ADRBK2 | 1.01403883 |
| 50 | MAP3K12 | 0.93494185 |
| 51 | CAMK2B | 0.92520230 |
| 52 | CDC7 | 0.92138634 |
| 53 | ATR | 0.87346781 |
| 54 | PASK | 0.86016567 |
| 55 | GRK5 | 0.85263790 |
| 56 | BCKDK | 0.84854837 |
| 57 | GRK1 | 0.83349086 |
| 58 | TESK2 | 0.82441111 |
| 59 | PIM2 | 0.82125143 |
| 60 | DYRK3 | 0.81743090 |
| 61 | BRSK2 | 0.81533972 |
| 62 | PHKG2 | 0.81145744 |
| 63 | PHKG1 | 0.81145744 |
| 64 | CLK1 | 0.80997144 |
| 65 | CSNK1G1 | 0.79683211 |
| 66 | ROCK2 | 0.77811730 |
| 67 | ABL2 | 0.77766966 |
| 68 | FGR | 0.76579064 |
| 69 | RPS6KA4 | 0.75279412 |
| 70 | IRAK1 | 0.75250536 |
| 71 | CAMK2D | 0.74304215 |
| 72 | CSNK1A1L | 0.73839010 |
| 73 | MET | 0.73612430 |
| 74 | PLK3 | 0.72503683 |
| 75 | BRSK1 | 0.72245214 |
| 76 | RPS6KA5 | 0.71923914 |
| 77 | CSNK1G2 | 0.71069434 |
| 78 | TSSK6 | 0.70956675 |
| 79 | CDK8 | 0.69711495 |
| 80 | NEK2 | 0.69217704 |
| 81 | CDK14 | 0.69124988 |
| 82 | BMPR2 | 0.68357811 |
| 83 | STK4 | 0.68285388 |
| 84 | CAMK2A | 0.65628143 |
| 85 | CCNB1 | 0.64875414 |
| 86 | ILK | 0.63704553 |
| 87 | CSNK1E | 0.62300470 |
| 88 | ERBB3 | 0.61979094 |
| 89 | CHEK1 | 0.61550768 |
| 90 | ACVR1B | 0.61454244 |
| 91 | AURKA | 0.61406512 |
| 92 | CDK18 | 0.61137560 |
| 93 | DAPK1 | 0.60544410 |
| 94 | ATM | 0.59086299 |
| 95 | CDK15 | 0.58799649 |
| 96 | PRKCG | 0.58737442 |
| 97 | CAMK2G | 0.58127153 |
| 98 | PINK1 | 0.58036120 |
| 99 | CDK11A | 0.57930175 |
| 100 | CHEK2 | 0.56426952 |
| 101 | MYLK | 0.56042324 |
| 102 | PRKCI | 0.55553585 |
| 103 | STK38L | 0.54535215 |
| 104 | YES1 | 0.54292260 |
| 105 | MARK1 | 0.53344986 |
| 106 | MAP3K6 | 0.53103806 |
| 107 | FRK | 0.51356662 |
| 108 | PAK4 | 0.51339281 |
| 109 | STK3 | 0.50137786 |
| 110 | PLK1 | 0.48832899 |
| 111 | OBSCN | 0.47968914 |
| 112 | IRAK4 | 0.47654459 |
| 113 | MINK1 | 0.47549686 |
| 114 | DAPK3 | 0.47455159 |
| 115 | CSNK2A2 | 0.47324997 |
| 116 | TTK | 0.46744538 |
| 117 | PAK1 | 0.46092202 |
| 118 | WNK1 | 0.45736459 |
| 119 | CSNK2A1 | 0.44622182 |
| 120 | CDK3 | 0.42963774 |
| 121 | CDK7 | 0.41527922 |
| 122 | PRKCE | 0.41411864 |
| 123 | ERBB4 | 0.41112375 |
| 124 | TESK1 | 0.40166769 |
| 125 | PRPF4B | 0.39662719 |
| 126 | INSRR | 0.39426208 |
| 127 | IRAK3 | 0.38966453 |
| 128 | EIF2AK2 | 0.38845261 |
| 129 | RPS6KB2 | 0.37478500 |
| 130 | SCYL2 | 0.35638791 |
| 131 | ADRBK1 | 0.35458382 |
| 132 | MAP3K4 | 0.35408749 |
| 133 | PRKCQ | 0.34683144 |
| 134 | TIE1 | 0.33718575 |
| 135 | PIK3CG | 0.33518809 |
| 136 | WNK3 | 0.32799872 |
| 137 | PRKACA | 0.31094473 |
| 138 | SGK494 | 0.26610989 |
| 139 | SGK223 | 0.26610989 |
| 140 | NUAK1 | 0.26422180 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 5.03204963 |
| 2 | Parkinsons disease_Homo sapiens_hsa05012 | 4.28414860 |
| 3 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 3.84685958 |
| 4 | Ribosome_Homo sapiens_hsa03010 | 3.78496622 |
| 5 | Proteasome_Homo sapiens_hsa03050 | 3.49608564 |
| 6 | RNA polymerase_Homo sapiens_hsa03020 | 3.26656713 |
| 7 | Alzheimers disease_Homo sapiens_hsa05010 | 3.19664519 |
| 8 | Huntingtons disease_Homo sapiens_hsa05016 | 3.15906961 |
| 9 | Protein export_Homo sapiens_hsa03060 | 3.06873620 |
| 10 | Steroid biosynthesis_Homo sapiens_hsa00100 | 2.90535194 |
| 11 | Fatty acid elongation_Homo sapiens_hsa00062 | 2.61710328 |
| 12 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 2.51897355 |
| 13 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 2.43061831 |
| 14 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.89441900 |
| 15 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.88897604 |
| 16 | Homologous recombination_Homo sapiens_hsa03440 | 1.85544061 |
| 17 | DNA replication_Homo sapiens_hsa03030 | 1.79958503 |
| 18 | Mismatch repair_Homo sapiens_hsa03430 | 1.79852475 |
| 19 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.79096609 |
| 20 | Basal transcription factors_Homo sapiens_hsa03022 | 1.78232581 |
| 21 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.77510331 |
| 22 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 1.65949220 |
| 23 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.64708838 |
| 24 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.61418411 |
| 25 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.54181659 |
| 26 | Spliceosome_Homo sapiens_hsa03040 | 1.52947715 |
| 27 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 1.40559181 |
| 28 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 1.29435483 |
| 29 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.16737083 |
| 30 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.13817012 |
| 31 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.12799347 |
| 32 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.11944319 |
| 33 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 1.11325520 |
| 34 | Purine metabolism_Homo sapiens_hsa00230 | 1.09498073 |
| 35 | RNA degradation_Homo sapiens_hsa03018 | 1.07679639 |
| 36 | Sulfur metabolism_Homo sapiens_hsa00920 | 1.05827581 |
| 37 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.00912979 |
| 38 | RNA transport_Homo sapiens_hsa03013 | 0.99012480 |
| 39 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.98025174 |
| 40 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.97007214 |
| 41 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.96257689 |
| 42 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.90950645 |
| 43 | Metabolic pathways_Homo sapiens_hsa01100 | 0.84602166 |
| 44 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.84478077 |
| 45 | Sulfur relay system_Homo sapiens_hsa04122 | 0.83569255 |
| 46 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.83217465 |
| 47 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.83100941 |
| 48 | Base excision repair_Homo sapiens_hsa03410 | 0.82291196 |
| 49 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 0.78975636 |
| 50 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.77231087 |
| 51 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 0.74269273 |
| 52 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.70823592 |
| 53 | Cell cycle_Homo sapiens_hsa04110 | 0.64917454 |
| 54 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.63070511 |
| 55 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.61796850 |
| 56 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.61210316 |
| 57 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.60844426 |
| 58 | Histidine metabolism_Homo sapiens_hsa00340 | 0.58099649 |
| 59 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.56906686 |
| 60 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.56110574 |
| 61 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.53707486 |
| 62 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.52473706 |
| 63 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.51103649 |
| 64 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.50036862 |
| 65 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.49997463 |
| 66 | Phototransduction_Homo sapiens_hsa04744 | 0.49712051 |
| 67 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.48991900 |
| 68 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.48334171 |
| 69 | Nicotine addiction_Homo sapiens_hsa05033 | 0.48000169 |
| 70 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.47843822 |
| 71 | Axon guidance_Homo sapiens_hsa04360 | 0.45017692 |
| 72 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.43146049 |
| 73 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.43134664 |
| 74 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.42151697 |
| 75 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.42014490 |
| 76 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.41283671 |
| 77 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.40804223 |
| 78 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.40157579 |
| 79 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.40043534 |
| 80 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.39874164 |
| 81 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.39300493 |
| 82 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.37680920 |
| 83 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.36492197 |
| 84 | Phagosome_Homo sapiens_hsa04145 | 0.34094666 |
| 85 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.33901806 |
| 86 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.33294976 |
| 87 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.32971840 |
| 88 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.31904322 |
| 89 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.31344354 |
| 90 | Peroxisome_Homo sapiens_hsa04146 | 0.31266317 |
| 91 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.31248908 |
| 92 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.30977008 |
| 93 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.30665805 |
| 94 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.27288247 |
| 95 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.26840071 |
| 96 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.26620902 |
| 97 | Long-term depression_Homo sapiens_hsa04730 | 0.25615432 |
| 98 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.25123561 |
| 99 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.25101888 |
| 100 | Alcoholism_Homo sapiens_hsa05034 | 0.24449602 |
| 101 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.24331524 |
| 102 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.23564000 |
| 103 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.22944585 |
| 104 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.20002743 |
| 105 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.19648426 |
| 106 | GABAergic synapse_Homo sapiens_hsa04727 | 0.17626907 |
| 107 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.16514249 |
| 108 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.14891636 |
| 109 | Mineral absorption_Homo sapiens_hsa04978 | 0.13369869 |
| 110 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.13321991 |
| 111 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.13269672 |
| 112 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.13036164 |
| 113 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.12957735 |
| 114 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.11797950 |
| 115 | Taste transduction_Homo sapiens_hsa04742 | 0.10443295 |
| 116 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.09940456 |
| 117 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.09634464 |
| 118 | Morphine addiction_Homo sapiens_hsa05032 | 0.09289818 |
| 119 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.08497365 |
| 120 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.08461140 |
| 121 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.08388844 |
| 122 | Asthma_Homo sapiens_hsa05310 | 0.07295259 |
| 123 | Tight junction_Homo sapiens_hsa04530 | 0.05858423 |
| 124 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.05421141 |
| 125 | Retinol metabolism_Homo sapiens_hsa00830 | 0.04827978 |
| 126 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.04564194 |
| 127 | Ras signaling pathway_Homo sapiens_hsa04014 | 0.04227983 |
| 128 | Allograft rejection_Homo sapiens_hsa05330 | 0.03476172 |
| 129 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.02678851 |
| 130 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.02448491 |
| 131 | Carbon metabolism_Homo sapiens_hsa01200 | 0.02144367 |

