

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | proteasome assembly (GO:0043248) | 5.30722737 |
| 2 | termination of RNA polymerase III transcription (GO:0006386) | 4.68975555 |
| 3 | transcription elongation from RNA polymerase III promoter (GO:0006385) | 4.68975555 |
| 4 | purine nucleobase biosynthetic process (GO:0009113) | 4.51266192 |
| 5 | DNA deamination (GO:0045006) | 4.47956903 |
| 6 | rRNA modification (GO:0000154) | 4.22587381 |
| 7 | spliceosomal snRNP assembly (GO:0000387) | 4.21368641 |
| 8 | nucleobase biosynthetic process (GO:0046112) | 4.18828485 |
| 9 | regulation of mitochondrial translation (GO:0070129) | 4.15649840 |
| 10 | transcription elongation from RNA polymerase I promoter (GO:0006362) | 4.10788335 |
| 11 | 7-methylguanosine mRNA capping (GO:0006370) | 4.09711148 |
| 12 | 7-methylguanosine RNA capping (GO:0009452) | 4.08507648 |
| 13 | RNA capping (GO:0036260) | 4.08507648 |
| 14 | termination of RNA polymerase I transcription (GO:0006363) | 4.05338245 |
| 15 | maturation of SSU-rRNA (GO:0030490) | 3.93061601 |
| 16 | ribosome biogenesis (GO:0042254) | 3.85284890 |
| 17 | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436) | 3.83165565 |
| 18 | transcription from RNA polymerase I promoter (GO:0006360) | 3.81349724 |
| 19 | spliceosomal complex assembly (GO:0000245) | 3.72537586 |
| 20 | cullin deneddylation (GO:0010388) | 3.70991552 |
| 21 | positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437) | 3.69300288 |
| 22 | ribosomal large subunit biogenesis (GO:0042273) | 3.68447500 |
| 23 | deoxyribonucleoside monophosphate metabolic process (GO:0009162) | 3.68441758 |
| 24 | mitochondrial RNA metabolic process (GO:0000959) | 3.67969158 |
| 25 | DNA replication checkpoint (GO:0000076) | 3.67045777 |
| 26 | nuclear pore complex assembly (GO:0051292) | 3.66993589 |
| 27 | transcription-coupled nucleotide-excision repair (GO:0006283) | 3.66837902 |
| 28 | nuclear pore organization (GO:0006999) | 3.64977330 |
| 29 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) | 3.63604743 |
| 30 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0 | 3.63172688 |
| 31 | ribonucleoprotein complex biogenesis (GO:0022613) | 3.60560413 |
| 32 | mitotic metaphase plate congression (GO:0007080) | 3.57669112 |
| 33 | kinetochore assembly (GO:0051382) | 3.55409300 |
| 34 | DNA unwinding involved in DNA replication (GO:0006268) | 3.52814916 |
| 35 | telomere maintenance via semi-conservative replication (GO:0032201) | 3.47730645 |
| 36 | regulation of nuclear cell cycle DNA replication (GO:0033262) | 3.45944246 |
| 37 | negative regulation of ligase activity (GO:0051352) | 3.45658775 |
| 38 | negative regulation of ubiquitin-protein transferase activity (GO:0051444) | 3.45658775 |
| 39 | protein deneddylation (GO:0000338) | 3.45025789 |
| 40 | pseudouridine synthesis (GO:0001522) | 3.44311053 |
| 41 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 3.43961478 |
| 42 | rRNA methylation (GO:0031167) | 3.42786344 |
| 43 | DNA strand elongation involved in DNA replication (GO:0006271) | 3.41758091 |
| 44 | regulation of centriole replication (GO:0046599) | 3.39994669 |
| 45 | transcription initiation from RNA polymerase I promoter (GO:0006361) | 3.39169489 |
| 46 | DNA strand elongation (GO:0022616) | 3.37862178 |
| 47 | DNA damage response, detection of DNA damage (GO:0042769) | 3.36391302 |
| 48 | L-methionine biosynthetic process (GO:0071265) | 3.36114184 |
| 49 | amino acid salvage (GO:0043102) | 3.36114184 |
| 50 | L-methionine salvage (GO:0071267) | 3.36114184 |
| 51 | CENP-A containing nucleosome assembly (GO:0034080) | 3.35908916 |
| 52 | L-methionine biosynthetic process from methylthioadenosine (GO:0019509) | 3.35510629 |
| 53 | DNA replication initiation (GO:0006270) | 3.34517208 |
| 54 | somatic diversification of immune receptors via somatic mutation (GO:0002566) | 3.34205977 |
| 55 | somatic hypermutation of immunoglobulin genes (GO:0016446) | 3.34205977 |
| 56 | maturation of 5.8S rRNA (GO:0000460) | 3.32924626 |
| 57 | cellular component biogenesis (GO:0044085) | 3.32459557 |
| 58 | rRNA processing (GO:0006364) | 3.31181472 |
| 59 | replication fork processing (GO:0031297) | 3.30585780 |
| 60 | viral mRNA export from host cell nucleus (GO:0046784) | 3.29729196 |
| 61 | protein localization to kinetochore (GO:0034501) | 3.29712998 |
| 62 | folic acid-containing compound biosynthetic process (GO:0009396) | 3.29366425 |
| 63 | mitotic sister chromatid segregation (GO:0000070) | 3.29022076 |
| 64 | ribosome assembly (GO:0042255) | 3.28378430 |
| 65 | regulation of cellular amino acid metabolic process (GO:0006521) | 3.26406439 |
| 66 | positive regulation of ubiquitin-protein transferase activity (GO:0051443) | 3.26064259 |
| 67 | chromatin remodeling at centromere (GO:0031055) | 3.25866296 |
| 68 | signal transduction involved in mitotic DNA damage checkpoint (GO:1902402) | 3.25843862 |
| 69 | signal transduction involved in mitotic cell cycle checkpoint (GO:0072413) | 3.25843862 |
| 70 | signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403) | 3.25843862 |
| 71 | tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) | 3.25050629 |
| 72 | RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394) | 3.25050629 |
| 73 | kinetochore organization (GO:0051383) | 3.23526467 |
| 74 | regulation of attachment of spindle microtubules to kinetochore (GO:0051988) | 3.22797708 |
| 75 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00 | 3.22306327 |
| 76 | mitochondrial respiratory chain complex I biogenesis (GO:0097031) | 3.22090000 |
| 77 | mitochondrial respiratory chain complex I assembly (GO:0032981) | 3.22090000 |
| 78 | NADH dehydrogenase complex assembly (GO:0010257) | 3.22090000 |
| 79 | telomere maintenance via recombination (GO:0000722) | 3.20390531 |
| 80 | signal transduction involved in DNA damage checkpoint (GO:0072422) | 3.19126925 |
| 81 | signal transduction involved in DNA integrity checkpoint (GO:0072401) | 3.19126925 |
| 82 | rRNA metabolic process (GO:0016072) | 3.19095667 |
| 83 | ATP synthesis coupled proton transport (GO:0015986) | 3.19038307 |
| 84 | energy coupled proton transport, down electrochemical gradient (GO:0015985) | 3.19038307 |
| 85 | signal transduction involved in cell cycle checkpoint (GO:0072395) | 3.18830649 |
| 86 | signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431) | 3.18730369 |
| 87 | intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400) | 3.18730369 |
| 88 | regulation of translational fidelity (GO:0006450) | 3.18537816 |
| 89 | tRNA methylation (GO:0030488) | 3.16864857 |
| 90 | single strand break repair (GO:0000012) | 3.15121409 |
| 91 | protein complex biogenesis (GO:0070271) | 3.13705110 |
| 92 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 3.13686665 |
| 93 | establishment of protein localization to mitochondrial membrane (GO:0090151) | 3.13119312 |
| 94 | sister chromatid segregation (GO:0000819) | 3.12883485 |
| 95 | DNA replication-dependent nucleosome organization (GO:0034723) | 3.11647789 |
| 96 | DNA replication-dependent nucleosome assembly (GO:0006335) | 3.11647789 |
| 97 | deoxyribonucleotide biosynthetic process (GO:0009263) | 3.11533281 |
| 98 | establishment of integrated proviral latency (GO:0075713) | 3.09858577 |
| 99 | nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291) | 3.09710984 |
| 100 | positive regulation of ligase activity (GO:0051351) | 3.09641274 |
| 101 | telomere maintenance via telomere lengthening (GO:0010833) | 3.06813544 |
| 102 | peptidyl-histidine modification (GO:0018202) | 3.06107746 |
| 103 | protein K6-linked ubiquitination (GO:0085020) | 3.04063073 |
| 104 | mitochondrial DNA replication (GO:0006264) | 3.03668114 |
| 105 | DNA-templated transcription, elongation (GO:0006354) | 3.03491116 |
| 106 | DNA-templated transcription, termination (GO:0006353) | 3.03432842 |
| 107 | transcription elongation from RNA polymerase II promoter (GO:0006368) | 3.02949486 |
| 108 | guanosine-containing compound biosynthetic process (GO:1901070) | 3.02405538 |
| 109 | respiratory chain complex IV assembly (GO:0008535) | 3.02372022 |
| 110 | DNA-dependent DNA replication (GO:0006261) | 3.01348196 |
| 111 | protein localization to chromosome, centromeric region (GO:0071459) | 3.00826180 |
| 112 | L-serine metabolic process (GO:0006563) | 3.00725271 |
| 113 | mitochondrial respiratory chain complex assembly (GO:0033108) | 3.00450522 |
| 114 | IMP biosynthetic process (GO:0006188) | 2.99844591 |
| 115 | regulation of centrosome cycle (GO:0046605) | 2.98855931 |
| 116 | meiotic chromosome segregation (GO:0045132) | 2.97042489 |
| 117 | metaphase plate congression (GO:0051310) | 2.96442932 |
| 118 | tRNA modification (GO:0006400) | 2.96387679 |
| 119 | transcription from mitochondrial promoter (GO:0006390) | 2.96033871 |
| 120 | amino acid activation (GO:0043038) | 2.95077120 |
| 121 | tRNA aminoacylation (GO:0043039) | 2.95077120 |
| 122 | regulation of posttranscriptional gene silencing (GO:0060147) | 2.95048405 |
| 123 | regulation of gene silencing by miRNA (GO:0060964) | 2.95048405 |
| 124 | regulation of gene silencing by RNA (GO:0060966) | 2.95048405 |
| 125 | GTP biosynthetic process (GO:0006183) | 2.94399684 |
| 126 | formation of translation preinitiation complex (GO:0001731) | 2.93869582 |
| 127 | mitotic sister chromatid cohesion (GO:0007064) | 2.93217236 |
| 128 | ubiquinone biosynthetic process (GO:0006744) | 2.92817510 |
| 129 | quinone biosynthetic process (GO:1901663) | 2.92817510 |
| 130 | mitotic recombination (GO:0006312) | 2.91517616 |
| 131 | maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005) | 2.88989725 |
| 132 | tRNA aminoacylation for protein translation (GO:0006418) | 2.88759897 |
| 133 | pore complex assembly (GO:0046931) | 2.86534037 |
| 134 | mitotic nuclear envelope disassembly (GO:0007077) | 2.83854535 |
| 135 | negative regulation of DNA-dependent DNA replication (GO:2000104) | 2.82542056 |
| 136 | tRNA metabolic process (GO:0006399) | 2.80180343 |
| 137 | regulation of DNA endoreduplication (GO:0032875) | 2.77141822 |
| 138 | double-strand break repair via nonhomologous end joining (GO:0006303) | 2.75792415 |
| 139 | non-recombinational repair (GO:0000726) | 2.75792415 |
| 140 | histone exchange (GO:0043486) | 2.75685802 |
| 141 | tetrahydrofolate metabolic process (GO:0046653) | 2.74419980 |
| 142 | behavioral response to nicotine (GO:0035095) | 2.73883037 |
| 143 | regulation of mitotic spindle checkpoint (GO:1903504) | 2.72715975 |
| 144 | regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266) | 2.72715975 |
| 145 | tRNA processing (GO:0008033) | 2.72076489 |
| 146 | ncRNA metabolic process (GO:0034660) | 2.69970839 |
| 147 | ncRNA processing (GO:0034470) | 2.69620382 |
| 148 | nucleotide-excision repair, DNA gap filling (GO:0006297) | 2.69575890 |
| 149 | pteridine-containing compound biosynthetic process (GO:0042559) | 2.67019561 |
| 150 | recombinational repair (GO:0000725) | 2.65845997 |
| 151 | double-strand break repair via homologous recombination (GO:0000724) | 2.65567112 |
| 152 | regulation of centrosome duplication (GO:0010824) | 2.64664093 |
| 153 | methionine biosynthetic process (GO:0009086) | 2.63806158 |
| 154 | DNA replication-independent nucleosome organization (GO:0034724) | 2.63430566 |
| 155 | DNA replication-independent nucleosome assembly (GO:0006336) | 2.63430566 |
| 156 | aspartate family amino acid biosynthetic process (GO:0009067) | 2.63355749 |
| 157 | IMP metabolic process (GO:0046040) | 2.63178161 |
| 158 | translesion synthesis (GO:0019985) | 2.60593211 |
| 159 | positive regulation of chromosome segregation (GO:0051984) | 2.58600792 |
| 160 | water-soluble vitamin biosynthetic process (GO:0042364) | 2.57386349 |
| 161 | nuclear envelope disassembly (GO:0051081) | 2.57118511 |
| 162 | membrane disassembly (GO:0030397) | 2.57118511 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | E2F7_22180533_ChIP-Seq_HELA_Human | 5.24567043 |
| 2 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 4.84104561 |
| 3 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 4.25377150 |
| 4 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 4.12524640 |
| 5 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 3.86979367 |
| 6 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 3.80329341 |
| 7 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 3.75303050 |
| 8 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 3.57167526 |
| 9 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 3.38508570 |
| 10 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 3.21479573 |
| 11 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 3.10681539 |
| 12 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 3.10452603 |
| 13 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 2.90230799 |
| 14 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 2.89161366 |
| 15 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 2.88406612 |
| 16 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 2.80397001 |
| 17 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 2.71355347 |
| 18 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 2.68702082 |
| 19 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 2.66701061 |
| 20 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 2.60477109 |
| 21 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 2.58927732 |
| 22 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 2.42102992 |
| 23 | VDR_23849224_ChIP-Seq_CD4+_Human | 2.41161651 |
| 24 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 2.39541661 |
| 25 | DCP1A_22483619_ChIP-Seq_HELA_Human | 2.36469300 |
| 26 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 2.32537510 |
| 27 | E2F1_18555785_ChIP-Seq_MESCs_Mouse | 2.30592510 |
| 28 | SRF_21415370_ChIP-Seq_HL-1_Mouse | 2.24775136 |
| 29 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 2.23211425 |
| 30 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.22049599 |
| 31 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 2.21952266 |
| 32 | XRN2_22483619_ChIP-Seq_HELA_Human | 2.17903858 |
| 33 | FOXP3_21729870_ChIP-Seq_TREG_Human | 2.16160337 |
| 34 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 2.12226237 |
| 35 | YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 2.10908272 |
| 36 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.07102922 |
| 37 | GABP_19822575_ChIP-Seq_HepG2_Human | 1.99794356 |
| 38 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.99365712 |
| 39 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.97013903 |
| 40 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.96774273 |
| 41 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 1.92301721 |
| 42 | FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 1.83678333 |
| 43 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.82162856 |
| 44 | NANOG_18555785_ChIP-Seq_MESCs_Mouse | 1.80980914 |
| 45 | ELK1_19687146_ChIP-ChIP_HELA_Human | 1.76748330 |
| 46 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 1.73333873 |
| 47 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.72262195 |
| 48 | POU5F1_18358816_ChIP-ChIP_MESCs_Mouse | 1.68055533 |
| 49 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 1.64601362 |
| 50 | EWS_26573619_Chip-Seq_HEK293_Human | 1.64265523 |
| 51 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.55673310 |
| 52 | FUS_26573619_Chip-Seq_HEK293_Human | 1.54398176 |
| 53 | NOTCH1_21737748_ChIP-Seq_TLL_Human | 1.52334680 |
| 54 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.50296829 |
| 55 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.46559131 |
| 56 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.44892163 |
| 57 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.44149346 |
| 58 | SOX2_18555785_ChIP-Seq_MESCs_Mouse | 1.39977707 |
| 59 | PADI4_21655091_ChIP-ChIP_MCF-7_Human | 1.37909072 |
| 60 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.36433995 |
| 61 | CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 1.35361143 |
| 62 | KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 1.35247828 |
| 63 | ASH2L_23239880_ChIP-Seq_MESCs_Mouse | 1.34526129 |
| 64 | VDR_22108803_ChIP-Seq_LS180_Human | 1.33444241 |
| 65 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 1.32846353 |
| 66 | HOXB4_20404135_ChIP-ChIP_EML_Mouse | 1.32214079 |
| 67 | CIITA_25753668_ChIP-Seq_RAJI_Human | 1.27607380 |
| 68 | BCL3_23251550_ChIP-Seq_MUSCLE_Mouse | 1.22677832 |
| 69 | KLF4_19030024_ChIP-ChIP_MESCs_Mouse | 1.22582991 |
| 70 | NANOG_18358816_ChIP-ChIP_MESCs_Mouse | 1.22304113 |
| 71 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 1.17962617 |
| 72 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.14575046 |
| 73 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.13133734 |
| 74 | SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse | 1.12813866 |
| 75 | FLI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.10680017 |
| 76 | KDM5A_27292631_Chip-Seq_BREAST_Human | 1.09507591 |
| 77 | SIN3A_21632747_ChIP-Seq_MESCs_Mouse | 1.09088328 |
| 78 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.09009276 |
| 79 | ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.08930281 |
| 80 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 1.08356466 |
| 81 | ESR1_15608294_ChIP-ChIP_MCF-7_Human | 1.07121833 |
| 82 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.06981671 |
| 83 | NACC1_18358816_ChIP-ChIP_MESCs_Mouse | 1.04639516 |
| 84 | ELK1_22589737_ChIP-Seq_MCF10A_Human | 1.03163691 |
| 85 | CEBPB_24764292_ChIP-Seq_MC3T3_Mouse | 0.99959401 |
| 86 | ERG_20887958_ChIP-Seq_HPC-7_Mouse | 0.96946876 |
| 87 | SOX17_20123909_ChIP-Seq_XEN_Mouse | 0.96460212 |
| 88 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 0.94731942 |
| 89 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 0.93610511 |
| 90 | KLF2_18264089_ChIP-ChIP_MESCs_Mouse | 0.92975029 |
| 91 | KLF5_18264089_ChIP-ChIP_MESCs_Mouse | 0.92975029 |
| 92 | KLF4_18264089_ChIP-ChIP_MESCs_Mouse | 0.92975029 |
| 93 | SMAD1_18555785_ChIP-Seq_MESCs_Mouse | 0.90857009 |
| 94 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 0.88534963 |
| 95 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 0.88183470 |
| 96 | SFPI1_20887958_ChIP-Seq_HPC-7_Mouse | 0.85458455 |
| 97 | TAL1_20887958_ChIP-Seq_HPC-7_Mouse | 0.85307004 |
| 98 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 0.84798687 |
| 99 | SOX2_18692474_ChIP-Seq_MEFs_Mouse | 0.84200494 |
| 100 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 0.84143016 |
| 101 | E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human | 0.82518497 |
| 102 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 0.81586623 |
| 103 | CNOT3_19339689_ChIP-ChIP_MESCs_Mouse | 0.80244437 |
| 104 | NANOG_16153702_ChIP-ChIP_HESCs_Human | 0.80220107 |
| 105 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 0.79858790 |
| 106 | TP53_22573176_ChIP-Seq_HFKS_Human | 0.78922798 |
| 107 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 0.78754660 |
| 108 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 0.78722139 |
| 109 | SOX2_16153702_ChIP-ChIP_HESCs_Human | 0.78580872 |
| 110 | TAF15_26573619_Chip-Seq_HEK293_Human | 0.77498173 |
| 111 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 0.75413864 |
| 112 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 0.74905896 |
| 113 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 0.74658559 |
| 114 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 0.74649364 |
| 115 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 0.74414891 |
| 116 | TCF3_18692474_ChIP-Seq_MEFs_Mouse | 0.73906719 |
| 117 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 0.73584558 |
| 118 | OCT4_18692474_ChIP-Seq_MEFs_Mouse | 0.73527269 |
| 119 | POU5F1_18692474_ChIP-Seq_MESCs_Mouse | 0.72647959 |
| 120 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 0.71353717 |
| 121 | EGR1_23403033_ChIP-Seq_LIVER_Mouse | 0.69346109 |
| 122 | ER_23166858_ChIP-Seq_MCF-7_Human | 0.68536715 |
| 123 | CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat | 0.67938034 |
| 124 | CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse | 0.67861923 |
| 125 | TFEB_21752829_ChIP-Seq_HELA_Human | 0.67817051 |
| 126 | SOX2_19030024_ChIP-ChIP_MESCs_Mouse | 0.66403676 |
| 127 | PRDM5_23873026_ChIP-Seq_MEFs_Mouse | 0.66197666 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003693_abnormal_embryo_hatching | 4.59878516 |
| 2 | MP0008058_abnormal_DNA_repair | 3.79183540 |
| 3 | MP0003111_abnormal_nucleus_morphology | 3.62457923 |
| 4 | MP0008057_abnormal_DNA_replication | 3.44377033 |
| 5 | MP0010094_abnormal_chromosome_stability | 3.33761060 |
| 6 | MP0004957_abnormal_blastocyst_morpholog | 3.22198883 |
| 7 | MP0006292_abnormal_olfactory_placode | 3.21098375 |
| 8 | MP0003718_maternal_effect | 2.91644194 |
| 9 | MP0003077_abnormal_cell_cycle | 2.79835928 |
| 10 | MP0008932_abnormal_embryonic_tissue | 2.52890043 |
| 11 | MP0003136_yellow_coat_color | 2.45210891 |
| 12 | MP0004133_heterotaxia | 2.28470735 |
| 13 | MP0009697_abnormal_copulation | 2.27897716 |
| 14 | MP0001188_hyperpigmentation | 2.23299516 |
| 15 | MP0003786_premature_aging | 2.17849663 |
| 16 | MP0003806_abnormal_nucleotide_metabolis | 2.17451641 |
| 17 | MP0009379_abnormal_foot_pigmentation | 2.07987962 |
| 18 | MP0002638_abnormal_pupillary_reflex | 2.04375989 |
| 19 | MP0002132_abnormal_respiratory_system | 2.02085456 |
| 20 | MP0002102_abnormal_ear_morphology | 2.00349256 |
| 21 | MP0003315_abnormal_perineum_morphology | 1.97380806 |
| 22 | MP0008007_abnormal_cellular_replicative | 1.96061785 |
| 23 | MP0008877_abnormal_DNA_methylation | 1.85610282 |
| 24 | MP0003941_abnormal_skin_development | 1.75665140 |
| 25 | MP0008260_abnormal_autophagy | 1.71967820 |
| 26 | MP0006035_abnormal_mitochondrial_morpho | 1.64064812 |
| 27 | MP0000566_synostosis | 1.63431471 |
| 28 | MP0001529_abnormal_vocalization | 1.61906767 |
| 29 | MP0003890_abnormal_embryonic-extraembry | 1.55270297 |
| 30 | MP0004147_increased_porphyrin_level | 1.50829280 |
| 31 | MP0001764_abnormal_homeostasis | 1.48251540 |
| 32 | MP0002234_abnormal_pharynx_morphology | 1.47211139 |
| 33 | MP0003123_paternal_imprinting | 1.45414995 |
| 34 | MP0003186_abnormal_redox_activity | 1.43221965 |
| 35 | MP0004233_abnormal_muscle_weight | 1.42757606 |
| 36 | MP0006036_abnormal_mitochondrial_physio | 1.39966266 |
| 37 | MP0003011_delayed_dark_adaptation | 1.32599514 |
| 38 | MP0002938_white_spotting | 1.32277199 |
| 39 | MP0010030_abnormal_orbit_morphology | 1.30963726 |
| 40 | MP0003119_abnormal_digestive_system | 1.25588461 |
| 41 | MP0002163_abnormal_gland_morphology | 1.24657023 |
| 42 | MP0002084_abnormal_developmental_patter | 1.21250904 |
| 43 | MP0001730_embryonic_growth_arrest | 1.18129059 |
| 44 | MP0002277_abnormal_respiratory_mucosa | 1.17946025 |
| 45 | MP0009046_muscle_twitch | 1.17836362 |
| 46 | MP0004381_abnormal_hair_follicle | 1.17617011 |
| 47 | MP0002653_abnormal_ependyma_morphology | 1.16910581 |
| 48 | MP0009672_abnormal_birth_weight | 1.16060364 |
| 49 | MP0002210_abnormal_sex_determination | 1.16021411 |
| 50 | MP0002160_abnormal_reproductive_system | 1.15933212 |
| 51 | MP0010307_abnormal_tumor_latency | 1.10880826 |
| 52 | MP0005451_abnormal_body_composition | 1.10858264 |
| 53 | MP0000015_abnormal_ear_pigmentation | 1.10130094 |
| 54 | MP0005389_reproductive_system_phenotype | 1.08653092 |
| 55 | MP0004197_abnormal_fetal_growth/weight/ | 1.07617233 |
| 56 | MP0008789_abnormal_olfactory_epithelium | 1.06262332 |
| 57 | MP0001661_extended_life_span | 1.05341163 |
| 58 | MP0000427_abnormal_hair_cycle | 1.05034013 |
| 59 | MP0001286_abnormal_eye_development | 1.03885371 |
| 60 | MP0000647_abnormal_sebaceous_gland | 1.03603326 |
| 61 | MP0002736_abnormal_nociception_after | 1.02988292 |
| 62 | MP0000049_abnormal_middle_ear | 1.02826637 |
| 63 | MP0005187_abnormal_penis_morphology | 1.01847041 |
| 64 | MP0002697_abnormal_eye_size | 1.01358363 |
| 65 | MP0000358_abnormal_cell_content/ | 1.00357369 |
| 66 | MP0005380_embryogenesis_phenotype | 0.99517451 |
| 67 | MP0001672_abnormal_embryogenesis/_devel | 0.99517451 |
| 68 | MP0002837_dystrophic_cardiac_calcinosis | 0.99487813 |
| 69 | MP0005085_abnormal_gallbladder_physiolo | 0.99279611 |
| 70 | MP0000631_abnormal_neuroendocrine_gland | 0.99046765 |
| 71 | MP0000569_abnormal_digit_pigmentation | 0.99023470 |
| 72 | MP0003121_genomic_imprinting | 0.98728366 |
| 73 | MP0001119_abnormal_female_reproductive | 0.97362176 |
| 74 | MP0008995_early_reproductive_senescence | 0.96631599 |
| 75 | MP0006072_abnormal_retinal_apoptosis | 0.96556406 |
| 76 | MP0001919_abnormal_reproductive_system | 0.96512516 |
| 77 | MP0004145_abnormal_muscle_electrophysio | 0.96173887 |
| 78 | MP0000350_abnormal_cell_proliferation | 0.95519373 |
| 79 | MP0005075_abnormal_melanosome_morpholog | 0.94772739 |
| 80 | MP0002751_abnormal_autonomic_nervous | 0.94424209 |
| 81 | MP0001145_abnormal_male_reproductive | 0.93739829 |
| 82 | MP0002127_abnormal_cardiovascular_syste | 0.93256755 |
| 83 | MP0003938_abnormal_ear_development | 0.91880459 |
| 84 | MP0002085_abnormal_embryonic_tissue | 0.91318122 |
| 85 | MP0003646_muscle_fatigue | 0.90836376 |
| 86 | MP0001697_abnormal_embryo_size | 0.90349784 |
| 87 | MP0005551_abnormal_eye_electrophysiolog | 0.90216960 |
| 88 | MP0006276_abnormal_autonomic_nervous | 0.88608491 |
| 89 | MP0000026_abnormal_inner_ear | 0.88570166 |
| 90 | MP0005645_abnormal_hypothalamus_physiol | 0.87458446 |
| 91 | MP0000313_abnormal_cell_death | 0.86680299 |
| 92 | MP0001986_abnormal_taste_sensitivity | 0.85692400 |
| 93 | MP0003861_abnormal_nervous_system | 0.85532882 |
| 94 | MP0005332_abnormal_amino_acid | 0.84048297 |
| 95 | MP0003698_abnormal_male_reproductive | 0.83206478 |
| 96 | MP0004019_abnormal_vitamin_homeostasis | 0.82774591 |
| 97 | MP0000653_abnormal_sex_gland | 0.82658464 |
| 98 | MP0001293_anophthalmia | 0.82030874 |
| 99 | MP0005394_taste/olfaction_phenotype | 0.81256403 |
| 100 | MP0005499_abnormal_olfactory_system | 0.81256403 |
| 101 | MP0005266_abnormal_metabolism | 0.80596410 |
| 102 | MP0000372_irregular_coat_pigmentation | 0.80251220 |
| 103 | MP0002139_abnormal_hepatobiliary_system | 0.80145026 |
| 104 | MP0001968_abnormal_touch/_nociception | 0.79996276 |
| 105 | MP0001727_abnormal_embryo_implantation | 0.78662649 |
| 106 | MP0005409_darkened_coat_color | 0.78641655 |
| 107 | MP0002184_abnormal_innervation | 0.78197909 |
| 108 | MP0002080_prenatal_lethality | 0.78026194 |
| 109 | MP0000678_abnormal_parathyroid_gland | 0.77430109 |
| 110 | MP0004142_abnormal_muscle_tone | 0.77032707 |
| 111 | MP0001929_abnormal_gametogenesis | 0.76069461 |
| 112 | MP0003755_abnormal_palate_morphology | 0.75857283 |
| 113 | MP0005395_other_phenotype | 0.75835505 |
| 114 | MP0003984_embryonic_growth_retardation | 0.75633759 |
| 115 | MP0005253_abnormal_eye_physiology | 0.74707608 |
| 116 | MP0005171_absent_coat_pigmentation | 0.73549254 |
| 117 | MP0002088_abnormal_embryonic_growth/wei | 0.73032167 |
| 118 | MP0003195_calcinosis | 0.72966125 |
| 119 | MP0002233_abnormal_nose_morphology | 0.72863696 |
| 120 | MP0001905_abnormal_dopamine_level | 0.72163327 |
| 121 | MP0002249_abnormal_larynx_morphology | 0.71335025 |
| 122 | MP0009703_decreased_birth_body | 0.69265638 |
| 123 | MP0009745_abnormal_behavioral_response | 0.69086598 |
| 124 | MP0005379_endocrine/exocrine_gland_phen | 0.69081535 |
| 125 | MP0003937_abnormal_limbs/digits/tail_de | 0.68897531 |
| 126 | MP0005670_abnormal_white_adipose | 0.68478794 |
| 127 | MP0008770_decreased_survivor_rate | 0.67778732 |
| 128 | MP0003880_abnormal_central_pattern | 0.66912367 |
| 129 | MP0003950_abnormal_plasma_membrane | 0.66305663 |
| 130 | MP0004742_abnormal_vestibular_system | 0.65914671 |
| 131 | MP0005391_vision/eye_phenotype | 0.65819403 |
| 132 | MP0002111_abnormal_tail_morphology | 0.65631038 |
| 133 | MP0003567_abnormal_fetal_cardiomyocyte | 0.65274224 |
| 134 | MP0005365_abnormal_bile_salt | 0.64320137 |
| 135 | MP0008872_abnormal_physiological_respon | 0.63520490 |
| 136 | MP0004043_abnormal_pH_regulation | 0.63264357 |
| 137 | MP0003943_abnormal_hepatobiliary_system | 0.63090687 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Acute necrotizing encephalopathy (HP:0006965) | 3.96083563 |
| 2 | Birth length less than 3rd percentile (HP:0003561) | 3.64583389 |
| 3 | Abnormal mitochondria in muscle tissue (HP:0008316) | 3.56189597 |
| 4 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 3.54517001 |
| 5 | Mitochondrial inheritance (HP:0001427) | 3.52669368 |
| 6 | Cerebral hypomyelination (HP:0006808) | 3.40233405 |
| 7 | Breast hypoplasia (HP:0003187) | 3.37904403 |
| 8 | Acute encephalopathy (HP:0006846) | 3.31640097 |
| 9 | Increased CSF lactate (HP:0002490) | 3.31349119 |
| 10 | Increased serum pyruvate (HP:0003542) | 3.14542723 |
| 11 | Abnormality of glycolysis (HP:0004366) | 3.14542723 |
| 12 | 3-Methylglutaconic aciduria (HP:0003535) | 3.13839927 |
| 13 | Oral leukoplakia (HP:0002745) | 3.11501665 |
| 14 | Hepatocellular necrosis (HP:0001404) | 3.10953960 |
| 15 | Abnormality of the preputium (HP:0100587) | 3.10297846 |
| 16 | Microvesicular hepatic steatosis (HP:0001414) | 3.09865065 |
| 17 | Increased serum lactate (HP:0002151) | 3.08536253 |
| 18 | Meckel diverticulum (HP:0002245) | 3.05368528 |
| 19 | Progressive macrocephaly (HP:0004481) | 3.04563354 |
| 20 | Chromsome breakage (HP:0040012) | 3.04482807 |
| 21 | Reticulocytopenia (HP:0001896) | 3.00544309 |
| 22 | Hepatic necrosis (HP:0002605) | 2.96251968 |
| 23 | Abnormality of the ileum (HP:0001549) | 2.92388990 |
| 24 | Rough bone trabeculation (HP:0100670) | 2.91727066 |
| 25 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 2.78735898 |
| 26 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 2.77614969 |
| 27 | Increased hepatocellular lipid droplets (HP:0006565) | 2.77298296 |
| 28 | Muscle abnormality related to mitochondrial dysfunction (HP:0003800) | 2.75944494 |
| 29 | Abnormality of alanine metabolism (HP:0010916) | 2.75726924 |
| 30 | Hyperalaninemia (HP:0003348) | 2.75726924 |
| 31 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 2.75726924 |
| 32 | Hypoplasia of the pons (HP:0012110) | 2.69639424 |
| 33 | Abnormality of the pons (HP:0007361) | 2.68962838 |
| 34 | Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688) | 2.66772279 |
| 35 | Absent radius (HP:0003974) | 2.66376268 |
| 36 | Duplicated collecting system (HP:0000081) | 2.65243473 |
| 37 | Cerebral edema (HP:0002181) | 2.64952745 |
| 38 | Lipid accumulation in hepatocytes (HP:0006561) | 2.63864085 |
| 39 | Patellar aplasia (HP:0006443) | 2.55190283 |
| 40 | Lactic acidosis (HP:0003128) | 2.54653560 |
| 41 | Horseshoe kidney (HP:0000085) | 2.54148140 |
| 42 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 2.50437793 |
| 43 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 2.50437793 |
| 44 | Aplasia/Hypoplasia of the patella (HP:0006498) | 2.49415820 |
| 45 | Aplasia involving forearm bones (HP:0009822) | 2.48851603 |
| 46 | Absent forearm bone (HP:0003953) | 2.48851603 |
| 47 | Carpal bone hypoplasia (HP:0001498) | 2.47863935 |
| 48 | Progressive external ophthalmoplegia (HP:0000590) | 2.45776626 |
| 49 | Abnormality of pyrimidine metabolism (HP:0004353) | 2.45080688 |
| 50 | Exercise intolerance (HP:0003546) | 2.41041410 |
| 51 | Abnormality of the renal collecting system (HP:0004742) | 2.38219723 |
| 52 | Renal Fanconi syndrome (HP:0001994) | 2.35508237 |
| 53 | Bone marrow hypocellularity (HP:0005528) | 2.34748291 |
| 54 | Triphalangeal thumb (HP:0001199) | 2.33960841 |
| 55 | Aplasia/Hypoplasia involving the musculature (HP:0001460) | 2.33056410 |
| 56 | Abnormality of chromosome stability (HP:0003220) | 2.31000709 |
| 57 | Absent thumb (HP:0009777) | 2.30067524 |
| 58 | Abnormality of the carotid arteries (HP:0005344) | 2.29599013 |
| 59 | Abnormal trabecular bone morphology (HP:0100671) | 2.28084135 |
| 60 | Hyperglycinemia (HP:0002154) | 2.25606570 |
| 61 | Supernumerary spleens (HP:0009799) | 2.22669644 |
| 62 | Degeneration of anterior horn cells (HP:0002398) | 2.18383990 |
| 63 | Abnormality of the anterior horn cell (HP:0006802) | 2.18383990 |
| 64 | Respiratory failure (HP:0002878) | 2.17437629 |
| 65 | Premature graying of hair (HP:0002216) | 2.16948318 |
| 66 | Type II lissencephaly (HP:0007260) | 2.16649109 |
| 67 | Renal cortical cysts (HP:0000803) | 2.13858310 |
| 68 | Lethargy (HP:0001254) | 2.13742581 |
| 69 | Sloping forehead (HP:0000340) | 2.13085297 |
| 70 | Secondary amenorrhea (HP:0000869) | 2.12525133 |
| 71 | Aplasia/hypoplasia of the uterus (HP:0008684) | 2.12008955 |
| 72 | Abnormality of serum amino acid levels (HP:0003112) | 2.11367735 |
| 73 | Abnormal number of erythroid precursors (HP:0012131) | 2.10826523 |
| 74 | Impulsivity (HP:0100710) | 2.09834112 |
| 75 | Pancreatic cysts (HP:0001737) | 2.09135312 |
| 76 | Abnormality of midbrain morphology (HP:0002418) | 2.09008640 |
| 77 | Molar tooth sign on MRI (HP:0002419) | 2.09008640 |
| 78 | Partial agenesis of the corpus callosum (HP:0001338) | 2.08095646 |
| 79 | Optic disc pallor (HP:0000543) | 2.07552427 |
| 80 | Cellular immunodeficiency (HP:0005374) | 2.06456264 |
| 81 | Macrocytic anemia (HP:0001972) | 2.05948425 |
| 82 | Pendular nystagmus (HP:0012043) | 2.05804454 |
| 83 | Progressive muscle weakness (HP:0003323) | 2.05532309 |
| 84 | Pancytopenia (HP:0001876) | 2.04209691 |
| 85 | Colon cancer (HP:0003003) | 2.03846186 |
| 86 | Hyperglycinuria (HP:0003108) | 2.03357619 |
| 87 | Reduced antithrombin III activity (HP:0001976) | 1.99387215 |
| 88 | Volvulus (HP:0002580) | 1.99198406 |
| 89 | Premature ovarian failure (HP:0008209) | 1.98701638 |
| 90 | Aplasia/Hypoplasia involving the carpal bones (HP:0006502) | 1.98466936 |
| 91 | Abnormality of cells of the erythroid lineage (HP:0012130) | 1.98258874 |
| 92 | Unsteady gait (HP:0002317) | 1.97894275 |
| 93 | CNS demyelination (HP:0007305) | 1.97079972 |
| 94 | Duodenal stenosis (HP:0100867) | 1.96345771 |
| 95 | Small intestinal stenosis (HP:0012848) | 1.96345771 |
| 96 | Abnormality of the labia minora (HP:0012880) | 1.96325226 |
| 97 | Abnormal protein glycosylation (HP:0012346) | 1.92118746 |
| 98 | Abnormal glycosylation (HP:0012345) | 1.92118746 |
| 99 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 1.92118746 |
| 100 | Abnormal protein N-linked glycosylation (HP:0012347) | 1.92118746 |
| 101 | Progressive inability to walk (HP:0002505) | 1.91936114 |
| 102 | Ectopic kidney (HP:0000086) | 1.89844077 |
| 103 | Cerebellar dysplasia (HP:0007033) | 1.89662573 |
| 104 | Pancreatic fibrosis (HP:0100732) | 1.89469974 |
| 105 | Facial cleft (HP:0002006) | 1.88566342 |
| 106 | Abnormality of the duodenum (HP:0002246) | 1.87126328 |
| 107 | Respiratory difficulties (HP:0002880) | 1.86507509 |
| 108 | Ureteral duplication (HP:0000073) | 1.86137430 |
| 109 | Protruding tongue (HP:0010808) | 1.85915061 |
| 110 | Abnormality of DNA repair (HP:0003254) | 1.85844621 |
| 111 | Prolonged neonatal jaundice (HP:0006579) | 1.85665655 |
| 112 | True hermaphroditism (HP:0010459) | 1.85591590 |
| 113 | Exertional dyspnea (HP:0002875) | 1.84997007 |
| 114 | Type I transferrin isoform profile (HP:0003642) | 1.84572916 |
| 115 | Abnormality of homocysteine metabolism (HP:0010919) | 1.84488034 |
| 116 | Homocystinuria (HP:0002156) | 1.84488034 |
| 117 | Megaloblastic anemia (HP:0001889) | 1.83719748 |
| 118 | Abnormality of the renal cortex (HP:0011035) | 1.81491756 |
| 119 | Abnormal lung lobation (HP:0002101) | 1.80589829 |
| 120 | Aplastic anemia (HP:0001915) | 1.80577695 |
| 121 | Increased intramyocellular lipid droplets (HP:0012240) | 1.80089289 |
| 122 | Sparse eyelashes (HP:0000653) | 1.79982207 |
| 123 | Increased nuchal translucency (HP:0010880) | 1.78508048 |
| 124 | Abnormal respiratory motile cilium morphology (HP:0005938) | 1.77509621 |
| 125 | Abnormal respiratory epithelium morphology (HP:0012253) | 1.77509621 |
| 126 | Cleft eyelid (HP:0000625) | 1.77216679 |
| 127 | Lissencephaly (HP:0001339) | 1.75896274 |
| 128 | Septo-optic dysplasia (HP:0100842) | 1.75751766 |
| 129 | Glycosuria (HP:0003076) | 1.75230012 |
| 130 | Small hand (HP:0200055) | 1.68869259 |
| 131 | Short thumb (HP:0009778) | 1.67279061 |
| 132 | Methylmalonic acidemia (HP:0002912) | 1.64912025 |
| 133 | Glioma (HP:0009733) | 1.63938695 |
| 134 | Aplasia/Hypoplasia of the tibia (HP:0005772) | 1.63787956 |
| 135 | Retinal dysplasia (HP:0007973) | 1.63528712 |
| 136 | Sclerocornea (HP:0000647) | 1.62404561 |
| 137 | Methylmalonic aciduria (HP:0012120) | 1.62309052 |
| 138 | Multiple enchondromatosis (HP:0005701) | 1.61362481 |
| 139 | Clubbing of toes (HP:0100760) | 1.61280503 |
| 140 | Nephronophthisis (HP:0000090) | 1.58317179 |
| 141 | Inability to walk (HP:0002540) | 1.57305024 |
| 142 | Bilateral microphthalmos (HP:0007633) | 1.56528545 |
| 143 | Abnormality of methionine metabolism (HP:0010901) | 1.55775930 |
| 144 | Ependymoma (HP:0002888) | 1.54357795 |
| 145 | Dandy-Walker malformation (HP:0001305) | 1.53685901 |
| 146 | Septate vagina (HP:0001153) | 1.51836348 |
| 147 | Congenital stationary night blindness (HP:0007642) | 1.50984382 |
| 148 | Abnormal number of incisors (HP:0011064) | 1.50962300 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | STK16 | 4.87058357 |
| 2 | BUB1 | 4.83313337 |
| 3 | SRPK1 | 3.42644358 |
| 4 | EIF2AK1 | 3.42211662 |
| 5 | WEE1 | 3.03116745 |
| 6 | MKNK2 | 2.51975594 |
| 7 | TLK1 | 2.46067360 |
| 8 | FRK | 2.45916516 |
| 9 | PLK4 | 2.35294395 |
| 10 | ZAK | 2.32007762 |
| 11 | MKNK1 | 2.09591522 |
| 12 | VRK1 | 2.02673620 |
| 13 | EIF2AK3 | 1.95876818 |
| 14 | TSSK6 | 1.95195644 |
| 15 | AKT3 | 1.93168700 |
| 16 | PBK | 1.85126097 |
| 17 | NME2 | 1.80722066 |
| 18 | PNCK | 1.66948171 |
| 19 | IRAK3 | 1.66842842 |
| 20 | BCKDK | 1.66357763 |
| 21 | NME1 | 1.64753081 |
| 22 | TTK | 1.62857877 |
| 23 | PLK1 | 1.60165962 |
| 24 | EIF2AK2 | 1.55211977 |
| 25 | CASK | 1.52911387 |
| 26 | DYRK3 | 1.52798817 |
| 27 | PLK3 | 1.47517769 |
| 28 | WNK4 | 1.43785106 |
| 29 | WNK3 | 1.43717872 |
| 30 | CDC7 | 1.43310493 |
| 31 | TESK2 | 1.35412844 |
| 32 | AURKA | 1.33149185 |
| 33 | PASK | 1.30139490 |
| 34 | BRSK2 | 1.29654736 |
| 35 | TAF1 | 1.24933014 |
| 36 | MAP4K2 | 1.24537094 |
| 37 | STK38L | 1.22935657 |
| 38 | VRK2 | 1.22779871 |
| 39 | CDK7 | 1.19597245 |
| 40 | EPHA2 | 1.19273548 |
| 41 | MAP3K4 | 1.15055853 |
| 42 | CSNK1G1 | 1.13543739 |
| 43 | BRAF | 1.11741770 |
| 44 | DYRK2 | 1.11012063 |
| 45 | AURKB | 1.07587715 |
| 46 | CCNB1 | 1.03459902 |
| 47 | CSNK1G3 | 1.02605473 |
| 48 | YES1 | 1.02235093 |
| 49 | PINK1 | 1.00958186 |
| 50 | ACVR1B | 0.99626002 |
| 51 | INSRR | 0.98769463 |
| 52 | SIK3 | 0.96721185 |
| 53 | CDK8 | 0.95187265 |
| 54 | CSNK1G2 | 0.94047565 |
| 55 | CHEK2 | 0.93469099 |
| 56 | ATR | 0.91888758 |
| 57 | BRSK1 | 0.90631951 |
| 58 | LATS1 | 0.90601880 |
| 59 | CSNK1A1L | 0.89429219 |
| 60 | STK39 | 0.87254913 |
| 61 | PHKG1 | 0.86010975 |
| 62 | PHKG2 | 0.86010975 |
| 63 | MAP2K7 | 0.84331496 |
| 64 | BCR | 0.82775946 |
| 65 | TAOK2 | 0.82636380 |
| 66 | BMPR2 | 0.81845889 |
| 67 | BRD4 | 0.81351845 |
| 68 | MST4 | 0.80965482 |
| 69 | IRAK4 | 0.80888113 |
| 70 | TNIK | 0.80444210 |
| 71 | TGFBR1 | 0.80105211 |
| 72 | PRKCI | 0.77368282 |
| 73 | EEF2K | 0.75641587 |
| 74 | NEK2 | 0.75514714 |
| 75 | ALK | 0.75310043 |
| 76 | CAMK1D | 0.75192921 |
| 77 | NEK1 | 0.73232376 |
| 78 | GRK1 | 0.72582465 |
| 79 | CSNK2A1 | 0.72175924 |
| 80 | IRAK2 | 0.71433137 |
| 81 | RPS6KB2 | 0.71056363 |
| 82 | TRIM28 | 0.70531881 |
| 83 | OBSCN | 0.69236993 |
| 84 | NUAK1 | 0.67063872 |
| 85 | CAMK1G | 0.66224357 |
| 86 | STK3 | 0.64898840 |
| 87 | BMPR1B | 0.63847496 |
| 88 | CHEK1 | 0.63405907 |
| 89 | OXSR1 | 0.62848866 |
| 90 | NEK6 | 0.60868602 |
| 91 | ADRBK2 | 0.60778765 |
| 92 | CSNK2A2 | 0.59327234 |
| 93 | PRPF4B | 0.58611473 |
| 94 | LATS2 | 0.57927827 |
| 95 | CDK3 | 0.56698182 |
| 96 | MARK1 | 0.55774324 |
| 97 | BLK | 0.54645617 |
| 98 | ERBB4 | 0.54578581 |
| 99 | DYRK1A | 0.52914997 |
| 100 | CDK12 | 0.52333144 |
| 101 | STK4 | 0.51350796 |
| 102 | PRKDC | 0.50260489 |
| 103 | MAPKAPK5 | 0.49896414 |
| 104 | PIM2 | 0.49638623 |
| 105 | KDR | 0.49562831 |
| 106 | ERBB3 | 0.48155866 |
| 107 | GRK7 | 0.46363911 |
| 108 | RPS6KA5 | 0.45951361 |
| 109 | ABL2 | 0.45564135 |
| 110 | ATM | 0.45215910 |
| 111 | MAP3K12 | 0.44991520 |
| 112 | CAMK2B | 0.42452451 |
| 113 | LIMK1 | 0.42114594 |
| 114 | CDK2 | 0.41967448 |
| 115 | CDK1 | 0.41716021 |
| 116 | NEK9 | 0.40574753 |
| 117 | AKT2 | 0.39475206 |
| 118 | PRKCG | 0.37628873 |
| 119 | MAP3K11 | 0.37588690 |
| 120 | MAP3K9 | 0.36717460 |
| 121 | CSNK1A1 | 0.35435964 |
| 122 | MAPK14 | 0.34915268 |
| 123 | CSNK1E | 0.34837524 |
| 124 | MAPK13 | 0.34696230 |
| 125 | UHMK1 | 0.34474375 |
| 126 | MYLK | 0.34376346 |
| 127 | PAK1 | 0.32432188 |
| 128 | PLK2 | 0.31352415 |
| 129 | RPS6KA4 | 0.27107396 |
| 130 | MELK | 0.26961649 |
| 131 | CAMK2G | 0.26856966 |
| 132 | TXK | 0.24735965 |
| 133 | PDK2 | 0.24438481 |
| 134 | CDK4 | 0.24166278 |
| 135 | IRAK1 | 0.23876711 |
| 136 | CAMK2D | 0.22209049 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | RNA polymerase_Homo sapiens_hsa03020 | 4.26613757 |
| 2 | Proteasome_Homo sapiens_hsa03050 | 4.01764452 |
| 3 | DNA replication_Homo sapiens_hsa03030 | 3.28172504 |
| 4 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 3.27959847 |
| 5 | Mismatch repair_Homo sapiens_hsa03430 | 3.26480765 |
| 6 | Ribosome_Homo sapiens_hsa03010 | 3.18091217 |
| 7 | Homologous recombination_Homo sapiens_hsa03440 | 2.81679581 |
| 8 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 2.75611782 |
| 9 | Spliceosome_Homo sapiens_hsa03040 | 2.63715266 |
| 10 | Nucleotide excision repair_Homo sapiens_hsa03420 | 2.51492578 |
| 11 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 2.48507112 |
| 12 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 2.46078372 |
| 13 | One carbon pool by folate_Homo sapiens_hsa00670 | 2.26572274 |
| 14 | RNA transport_Homo sapiens_hsa03013 | 2.26505074 |
| 15 | Base excision repair_Homo sapiens_hsa03410 | 2.26297009 |
| 16 | Parkinsons disease_Homo sapiens_hsa05012 | 2.11387366 |
| 17 | Basal transcription factors_Homo sapiens_hsa03022 | 2.08965613 |
| 18 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 2.08358490 |
| 19 | Huntingtons disease_Homo sapiens_hsa05016 | 1.86170507 |
| 20 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 1.82526652 |
| 21 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 1.81251988 |
| 22 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.76727248 |
| 23 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.65869070 |
| 24 | Purine metabolism_Homo sapiens_hsa00230 | 1.64116418 |
| 25 | Cell cycle_Homo sapiens_hsa04110 | 1.61845883 |
| 26 | RNA degradation_Homo sapiens_hsa03018 | 1.59261837 |
| 27 | Protein export_Homo sapiens_hsa03060 | 1.46471957 |
| 28 | Folate biosynthesis_Homo sapiens_hsa00790 | 1.38510343 |
| 29 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 1.31100751 |
| 30 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 1.29759967 |
| 31 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 1.28586374 |
| 32 | Alzheimers disease_Homo sapiens_hsa05010 | 1.28051515 |
| 33 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 1.27497253 |
| 34 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 1.16722077 |
| 35 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 1.11008546 |
| 36 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.10929347 |
| 37 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 1.10507129 |
| 38 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.06121169 |
| 39 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 1.03345879 |
| 40 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.02517246 |
| 41 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 1.00619096 |
| 42 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.00200600 |
| 43 | Nicotine addiction_Homo sapiens_hsa05033 | 0.89779787 |
| 44 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.89677415 |
| 45 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.84412187 |
| 46 | Sulfur relay system_Homo sapiens_hsa04122 | 0.84334985 |
| 47 | Lysine degradation_Homo sapiens_hsa00310 | 0.82908487 |
| 48 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.80960818 |
| 49 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.80044108 |
| 50 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.79878209 |
| 51 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.79277207 |
| 52 | Metabolic pathways_Homo sapiens_hsa01100 | 0.79038193 |
| 53 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.76558324 |
| 54 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.75678760 |
| 55 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.75168262 |
| 56 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.75140122 |
| 57 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.74507512 |
| 58 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.73277999 |
| 59 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.73241433 |
| 60 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.68230502 |
| 61 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.67989349 |
| 62 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.65561653 |
| 63 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 0.64953100 |
| 64 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.63395660 |
| 65 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.63069762 |
| 66 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.61972093 |
| 67 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.61169750 |
| 68 | Retinol metabolism_Homo sapiens_hsa00830 | 0.61090397 |
| 69 | Carbon metabolism_Homo sapiens_hsa01200 | 0.60907043 |
| 70 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.60259080 |
| 71 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.59580339 |
| 72 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.57744203 |
| 73 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.55346666 |
| 74 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 0.54873344 |
| 75 | Peroxisome_Homo sapiens_hsa04146 | 0.54022445 |
| 76 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.53665377 |
| 77 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.52941098 |
| 78 | Phototransduction_Homo sapiens_hsa04744 | 0.52558580 |
| 79 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.52414453 |
| 80 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.52069294 |
| 81 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.51683721 |
| 82 | Taste transduction_Homo sapiens_hsa04742 | 0.49105050 |
| 83 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.47435096 |
| 84 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.46443357 |
| 85 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 0.45473434 |
| 86 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.45287222 |
| 87 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.44581419 |
| 88 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.44004285 |
| 89 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.40864602 |
| 90 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.38420480 |
| 91 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.38032714 |
| 92 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.37278286 |
| 93 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.36720953 |
| 94 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.36319849 |
| 95 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.35742686 |
| 96 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.35729904 |
| 97 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.35278486 |
| 98 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.34603758 |
| 99 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.34509662 |
| 100 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.31165862 |
| 101 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.29976221 |
| 102 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.29522615 |
| 103 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.27762604 |
| 104 | Galactose metabolism_Homo sapiens_hsa00052 | 0.27044850 |
| 105 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.22437264 |
| 106 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.21435614 |
| 107 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.20299489 |
| 108 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.18899242 |
| 109 | Olfactory transduction_Homo sapiens_hsa04740 | 0.16608806 |
| 110 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.16568172 |
| 111 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.15916473 |
| 112 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.14747740 |
| 113 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.13460890 |
| 114 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.13005831 |
| 115 | Histidine metabolism_Homo sapiens_hsa00340 | 0.12025932 |
| 116 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.11900481 |
| 117 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.11356387 |
| 118 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.10408433 |
| 119 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.09524475 |
| 120 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.09157086 |
| 121 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.08059031 |
| 122 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.07269515 |

