

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | maintenance of protein localization in endoplasmic reticulum (GO:0035437) | 8.36430795 |
| 2 | protein retention in ER lumen (GO:0006621) | 6.82679532 |
| 3 | signal peptide processing (GO:0006465) | 5.88238506 |
| 4 | COPII vesicle coating (GO:0048208) | 5.72243603 |
| 5 | * activation of signaling protein activity involved in unfolded protein response (GO:0006987) | 5.52074368 |
| 6 | * positive regulation of nuclease activity (GO:0032075) | 5.42292267 |
| 7 | retrograde vesicle-mediated transport, Golgi to ER (GO:0006890) | 5.15155594 |
| 8 | sequestering of metal ion (GO:0051238) | 5.08748676 |
| 9 | * regulation of nuclease activity (GO:0032069) | 4.98314914 |
| 10 | * endoplasmic reticulum unfolded protein response (GO:0030968) | 4.89629893 |
| 11 | ER-associated ubiquitin-dependent protein catabolic process (GO:0030433) | 4.76955325 |
| 12 | * cellular response to unfolded protein (GO:0034620) | 4.73842080 |
| 13 | protein maturation by protein folding (GO:0022417) | 4.72024653 |
| 14 | * cellular response to topologically incorrect protein (GO:0035967) | 4.54190835 |
| 15 | * ER-nucleus signaling pathway (GO:0006984) | 4.48464452 |
| 16 | protein N-linked glycosylation via asparagine (GO:0018279) | 4.36013977 |
| 17 | establishment of integrated proviral latency (GO:0075713) | 4.33673921 |
| 18 | peptidyl-asparagine modification (GO:0018196) | 4.32612979 |
| 19 | 4-hydroxyproline metabolic process (GO:0019471) | 4.15880235 |
| 20 | nuclear pore complex assembly (GO:0051292) | 4.12265741 |
| 21 | * response to endoplasmic reticulum stress (GO:0034976) | 4.07480131 |
| 22 | ER overload response (GO:0006983) | 4.06339741 |
| 23 | vesicle coating (GO:0006901) | 4.04959363 |
| 24 | folic acid-containing compound biosynthetic process (GO:0009396) | 3.99814757 |
| 25 | protein N-linked glycosylation (GO:0006487) | 3.97140747 |
| 26 | exocrine pancreas development (GO:0031017) | 3.92031089 |
| 27 | UDP-N-acetylglucosamine metabolic process (GO:0006047) | 3.88709003 |
| 28 | * response to unfolded protein (GO:0006986) | 3.76541761 |
| 29 | * response to topologically incorrect protein (GO:0035966) | 3.64676484 |
| 30 | peptide catabolic process (GO:0043171) | 3.60878168 |
| 31 | nuclear pore organization (GO:0006999) | 3.58198036 |
| 32 | DNA strand elongation involved in DNA replication (GO:0006271) | 3.54346705 |
| 33 | ribosome assembly (GO:0042255) | 3.52082907 |
| 34 | DNA strand elongation (GO:0022616) | 3.43518029 |
| 35 | establishment of viral latency (GO:0019043) | 3.42140827 |
| 36 | proline biosynthetic process (GO:0006561) | 3.35252294 |
| 37 | SRP-dependent cotranslational protein targeting to membrane (GO:0006614) | 3.26243255 |
| 38 | nucleobase-containing small molecule interconversion (GO:0015949) | 3.23068816 |
| 39 | chaperone-mediated protein folding (GO:0061077) | 3.19850241 |
| 40 | mitotic chromosome condensation (GO:0007076) | 3.19469661 |
| 41 | protein targeting to ER (GO:0045047) | 3.19333308 |
| 42 | cotranslational protein targeting to membrane (GO:0006613) | 3.17607621 |
| 43 | mitotic metaphase plate congression (GO:0007080) | 3.14077857 |
| 44 | response to testosterone (GO:0033574) | 3.12603655 |
| 45 | ER to Golgi vesicle-mediated transport (GO:0006888) | 3.10585769 |
| 46 | nucleotide-sugar biosynthetic process (GO:0009226) | 3.09389602 |
| 47 | protein localization to kinetochore (GO:0034501) | 3.08833376 |
| 48 | valine metabolic process (GO:0006573) | 3.06751295 |
| 49 | peptidyl-proline hydroxylation (GO:0019511) | 3.04541896 |
| 50 | establishment of protein localization to endoplasmic reticulum (GO:0072599) | 3.03654444 |
| 51 | telomere maintenance via semi-conservative replication (GO:0032201) | 3.03270379 |
| 52 | mitotic sister chromatid segregation (GO:0000070) | 3.02305910 |
| 53 | protein autoprocessing (GO:0016540) | 3.02173546 |
| 54 | protein localization to chromosome, centromeric region (GO:0071459) | 3.01238372 |
| 55 | protein localization to endoplasmic reticulum (GO:0070972) | 3.00128234 |
| 56 | pore complex assembly (GO:0046931) | 2.96141700 |
| 57 | very-low-density lipoprotein particle assembly (GO:0034379) | 2.94823216 |
| 58 | cell adhesion mediated by integrin (GO:0033627) | 2.91415697 |
| 59 | * cell redox homeostasis (GO:0045454) | 2.91410240 |
| 60 | tetrahydrofolate metabolic process (GO:0046653) | 2.90805539 |
| 61 | nucleotide-sugar metabolic process (GO:0009225) | 2.87522031 |
| 62 | GDP-mannose metabolic process (GO:0019673) | 2.86406665 |
| 63 | peptide hormone processing (GO:0016486) | 2.85842173 |
| 64 | protein complex localization (GO:0031503) | 2.85306955 |
| 65 | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436) | 2.84245635 |
| 66 | glandular epithelial cell differentiation (GO:0002067) | 2.82611342 |
| 67 | pteridine-containing compound biosynthetic process (GO:0042559) | 2.81343023 |
| 68 | negative regulation of fibrinolysis (GO:0051918) | 2.81260292 |
| 69 | branching involved in prostate gland morphogenesis (GO:0060442) | 2.80568181 |
| 70 | sister chromatid segregation (GO:0000819) | 2.78851550 |
| 71 | tRNA aminoacylation for protein translation (GO:0006418) | 2.78491777 |
| 72 | mitotic nuclear envelope disassembly (GO:0007077) | 2.78046775 |
| 73 | endocrine pancreas development (GO:0031018) | 2.77738448 |
| 74 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) | 2.76683641 |
| 75 | maintenance of protein localization in organelle (GO:0072595) | 2.75871522 |
| 76 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0 | 2.75301453 |
| 77 | pinocytosis (GO:0006907) | 2.74133459 |
| 78 | galactose catabolic process (GO:0019388) | 2.73298987 |
| 79 | IMP metabolic process (GO:0046040) | 2.70243233 |
| 80 | negative regulation of ubiquitin-protein transferase activity (GO:0051444) | 2.69295446 |
| 81 | negative regulation of ligase activity (GO:0051352) | 2.69295446 |
| 82 | proteasome assembly (GO:0043248) | 2.68452199 |
| 83 | cellular protein complex localization (GO:0034629) | 2.66481057 |
| 84 | regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902235 | 2.65841550 |
| 85 | heterochromatin organization (GO:0070828) | 2.65182914 |
| 86 | amino acid activation (GO:0043038) | 2.64975825 |
| 87 | tRNA aminoacylation (GO:0043039) | 2.64975825 |
| 88 | regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714) | 2.63301448 |
| 89 | DNA replication initiation (GO:0006270) | 2.63085467 |
| 90 | metaphase plate congression (GO:0051310) | 2.62091844 |
| 91 | positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437) | 2.60931678 |
| 92 | maternal placenta development (GO:0001893) | 2.60383765 |
| 93 | protein hydroxylation (GO:0018126) | 2.60356522 |
| 94 | purine nucleobase biosynthetic process (GO:0009113) | 2.58320858 |
| 95 | sulfur amino acid catabolic process (GO:0000098) | 2.57933674 |
| 96 | nucleobase biosynthetic process (GO:0046112) | 2.57827320 |
| 97 | regulation of mitotic spindle organization (GO:0060236) | 2.57610424 |
| 98 | nuclear envelope disassembly (GO:0051081) | 2.56933875 |
| 99 | membrane disassembly (GO:0030397) | 2.56933875 |
| 100 | telomere maintenance via recombination (GO:0000722) | 2.53393927 |
| 101 | double-strand break repair via nonhomologous end joining (GO:0006303) | 2.52571040 |
| 102 | non-recombinational repair (GO:0000726) | 2.52571040 |
| 103 | DNA ligation (GO:0006266) | 2.52061317 |
| 104 | hormone catabolic process (GO:0042447) | 2.51684964 |
| 105 | paraxial mesoderm development (GO:0048339) | 2.49465779 |
| 106 | regulation of sister chromatid cohesion (GO:0007063) | 2.49233740 |
| 107 | formation of translation preinitiation complex (GO:0001731) | 2.48373339 |
| 108 | Golgi organization (GO:0007030) | 2.46621570 |
| 109 | skin morphogenesis (GO:0043589) | 2.46177847 |
| 110 | proline metabolic process (GO:0006560) | 2.45737809 |
| 111 | keratan sulfate catabolic process (GO:0042340) | 2.45626316 |
| 112 | establishment of chromosome localization (GO:0051303) | 2.45386330 |
| 113 | ribosomal small subunit assembly (GO:0000028) | 2.44552037 |
| 114 | mitotic recombination (GO:0006312) | 2.43826091 |
| 115 | regulation of spindle organization (GO:0090224) | 2.42387466 |
| 116 | regulation of cellular amino acid metabolic process (GO:0006521) | 2.42348679 |
| 117 | plasma lipoprotein particle assembly (GO:0034377) | 2.42281115 |
| 118 | regulation of fibrinolysis (GO:0051917) | 2.41490770 |
| 119 | IMP biosynthetic process (GO:0006188) | 2.41225228 |
| 120 | peptidyl-glutamic acid carboxylation (GO:0017187) | 2.41189893 |
| 121 | protein carboxylation (GO:0018214) | 2.41189893 |
| 122 | regulation of attachment of spindle microtubules to kinetochore (GO:0051988) | 2.40273114 |
| 123 | regulation of translational termination (GO:0006449) | 2.40261420 |
| 124 | type B pancreatic cell development (GO:0003323) | 2.39843454 |
| 125 | G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199 | 2.39469262 |
| 126 | CENP-A containing nucleosome assembly (GO:0034080) | 2.39412656 |
| 127 | basement membrane organization (GO:0071711) | 2.37768987 |
| 128 | * protein folding (GO:0006457) | 2.36528794 |
| 129 | regulation of translational fidelity (GO:0006450) | 2.35465303 |
| 130 | antigen processing and presentation of peptide antigen via MHC class I (GO:0002474) | 2.35356745 |
| 131 | UMP metabolic process (GO:0046049) | 2.35281412 |
| 132 | pyrimidine ribonucleoside monophosphate metabolic process (GO:0009173) | 2.35281412 |
| 133 | UMP biosynthetic process (GO:0006222) | 2.35281412 |
| 134 | pyrimidine ribonucleoside monophosphate biosynthetic process (GO:0009174) | 2.35281412 |
| 135 | DNA duplex unwinding (GO:0032508) | 2.34925465 |
| 136 | regulation of plasminogen activation (GO:0010755) | 2.34802806 |
| 137 | L-serine metabolic process (GO:0006563) | 2.33873546 |
| 138 | pentose-phosphate shunt (GO:0006098) | 2.33464790 |
| 139 | DNA topological change (GO:0006265) | 2.33249778 |
| 140 | gap junction assembly (GO:0016264) | 2.33098525 |
| 141 | cellular response to glucose starvation (GO:0042149) | 2.32725904 |
| 142 | regulation of ER to Golgi vesicle-mediated transport (GO:0060628) | 2.31082914 |
| 143 | NADPH regeneration (GO:0006740) | 2.30528101 |
| 144 | peptidyl-proline modification (GO:0018208) | 2.28663665 |
| 145 | misfolded or incompletely synthesized protein catabolic process (GO:0006515) | 2.26935163 |
| 146 | folic acid-containing compound metabolic process (GO:0006760) | 2.25945417 |
| 147 | pyrimidine nucleoside monophosphate biosynthetic process (GO:0009130) | 2.25439354 |
| 148 | regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768) | 2.24497023 |
| 149 | DNA unwinding involved in DNA replication (GO:0006268) | 2.23872613 |
| 150 | cellular response to ATP (GO:0071318) | 2.23656690 |
| 151 | L-alpha-amino acid transmembrane transport (GO:1902475) | 2.22845800 |
| 152 | nucleotide transmembrane transport (GO:1901679) | 2.22573855 |
| 153 | tricarboxylic acid metabolic process (GO:0072350) | 2.22021605 |
| 154 | regulation of lipoprotein particle clearance (GO:0010984) | 2.20450437 |
| 155 | positive regulation of receptor biosynthetic process (GO:0010870) | 2.20246932 |
| 156 | chaperone mediated protein folding requiring cofactor (GO:0051085) | 2.19618724 |
| 157 | serine family amino acid biosynthetic process (GO:0009070) | 2.18072818 |
| 158 | protein targeting to membrane (GO:0006612) | 2.18034246 |
| 159 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO: | 2.18014806 |
| 160 | fucose metabolic process (GO:0006004) | 2.18000727 |
| 161 | one-carbon metabolic process (GO:0006730) | 2.17150382 |
| 162 | COPI coating of Golgi vesicle (GO:0048205) | 10.0069765 |
| 163 | Golgi transport vesicle coating (GO:0048200) | 10.0069765 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | E2F7_22180533_ChIP-Seq_HELA_Human | 4.48061690 |
| 2 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 3.45807183 |
| 3 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 3.35632562 |
| 4 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 3.30215114 |
| 5 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 3.02788719 |
| 6 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 2.98465725 |
| 7 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 2.67504101 |
| 8 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 2.50045475 |
| 9 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 2.48885214 |
| 10 | ZNF263_19887448_ChIP-Seq_K562_Human | 2.41977338 |
| 11 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 2.40383429 |
| 12 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 2.38675001 |
| 13 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 2.35529247 |
| 14 | * CLOCK_20551151_ChIP-Seq_293T_Human | 2.35420445 |
| 15 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 2.23802427 |
| 16 | CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 2.18498339 |
| 17 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 2.13381346 |
| 18 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 2.12393502 |
| 19 | PPARA_22158963_ChIP-Seq_LIVER_Mouse | 2.07376859 |
| 20 | * NELFA_20434984_ChIP-Seq_ESCs_Mouse | 2.05207291 |
| 21 | GATA1_22025678_ChIP-Seq_K562_Human | 2.03762721 |
| 22 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 2.02450340 |
| 23 | RXR_22158963_ChIP-Seq_LIVER_Mouse | 2.02276589 |
| 24 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.99494905 |
| 25 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 1.97735485 |
| 26 | * MYC_19030024_ChIP-ChIP_MESCs_Mouse | 1.97379969 |
| 27 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.95325188 |
| 28 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.95300956 |
| 29 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 1.92599087 |
| 30 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.92266824 |
| 31 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.90419432 |
| 32 | * E2F1_18555785_ChIP-Seq_MESCs_Mouse | 1.88829954 |
| 33 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 1.88161404 |
| 34 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 1.84249851 |
| 35 | * ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.82945906 |
| 36 | NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 1.82655351 |
| 37 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 1.79299685 |
| 38 | ELK1_19687146_ChIP-ChIP_HELA_Human | 1.72744927 |
| 39 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 1.71286930 |
| 40 | XRN2_22483619_ChIP-Seq_HELA_Human | 1.70400343 |
| 41 | TFEB_21752829_ChIP-Seq_HELA_Human | 1.68837655 |
| 42 | HNF4A_19761587_ChIP-ChIP_CACO-2_Human | 1.67791817 |
| 43 | STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse | 1.67507778 |
| 44 | GABP_19822575_ChIP-Seq_HepG2_Human | 1.64467459 |
| 45 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 1.62486591 |
| 46 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 1.61774854 |
| 47 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 1.54455041 |
| 48 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 1.53962424 |
| 49 | KLF4_18555785_ChIP-Seq_MESCs_Mouse | 1.53535134 |
| 50 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 1.53480865 |
| 51 | LXR_22158963_ChIP-Seq_LIVER_Mouse | 1.49130967 |
| 52 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 1.48459929 |
| 53 | VDR_23849224_ChIP-Seq_CD4+_Human | 1.47722061 |
| 54 | SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse | 1.46248490 |
| 55 | KDM5A_27292631_Chip-Seq_BREAST_Human | 1.46068816 |
| 56 | ESR1_15608294_ChIP-ChIP_MCF-7_Human | 1.43033465 |
| 57 | DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 1.41730884 |
| 58 | PRDM5_23873026_ChIP-Seq_MEFs_Mouse | 1.39642669 |
| 59 | ZFP281_18358816_ChIP-ChIP_MESCs_Mouse | 1.39420060 |
| 60 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 1.39333768 |
| 61 | * ERG_20887958_ChIP-Seq_HPC-7_Mouse | 1.39104595 |
| 62 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 1.38371505 |
| 63 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.37633901 |
| 64 | SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 1.36026983 |
| 65 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.34891509 |
| 66 | YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.33975793 |
| 67 | * TAL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.32966177 |
| 68 | PADI4_21655091_ChIP-ChIP_MCF-7_Human | 1.32371471 |
| 69 | FOXP3_21729870_ChIP-Seq_TREG_Human | 1.32115135 |
| 70 | FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 1.31046430 |
| 71 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 1.30635221 |
| 72 | SFPI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.29061425 |
| 73 | CNOT3_19339689_ChIP-ChIP_MESCs_Mouse | 1.28903007 |
| 74 | HOXB4_20404135_ChIP-ChIP_EML_Mouse | 1.28762026 |
| 75 | EGR1_23403033_ChIP-Seq_LIVER_Mouse | 1.27615728 |
| 76 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 1.25721103 |
| 77 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 1.24433024 |
| 78 | ASXL1_24218140_ChIP-Seq_BMDM_Mouse | 1.24220833 |
| 79 | NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human | 1.23825962 |
| 80 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 1.22994025 |
| 81 | SRF_21415370_ChIP-Seq_HL-1_Mouse | 1.22850964 |
| 82 | TCF3_18692474_ChIP-Seq_MEFs_Mouse | 1.21382216 |
| 83 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.21164539 |
| 84 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.20389962 |
| 85 | SREBP1_19666523_ChIP-Seq_LIVER_Mouse | 1.20193886 |
| 86 | MYC_22102868_ChIP-Seq_BL_Human | 1.19761048 |
| 87 | EOMES_20176728_ChIP-ChIP_TSCs_Mouse | 1.18918937 |
| 88 | CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human | 1.18489329 |
| 89 | STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse | 1.18104621 |
| 90 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.17717850 |
| 91 | SOX17_20123909_ChIP-Seq_XEN_Mouse | 1.15678230 |
| 92 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.15292574 |
| 93 | * KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 1.15287723 |
| 94 | ELK1_22589737_ChIP-Seq_MCF10A_Human | 1.14796888 |
| 95 | * SOX2_27498859_Chip-Seq_STOMACH_Mouse | 1.13825320 |
| 96 | CHD1_26751641_Chip-Seq_LNCaP_Human | 1.13757438 |
| 97 | NKX2-5_21415370_ChIP-Seq_HL-1_Mouse | 1.11072619 |
| 98 | NANOG_21062744_ChIP-ChIP_HESCs_Human | 1.11033018 |
| 99 | * KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.10795625 |
| 100 | KLF4_18358816_ChIP-ChIP_MESCs_Mouse | 1.09976576 |
| 101 | * CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.08792449 |
| 102 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 1.08107762 |
| 103 | TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 1.07464608 |
| 104 | FLI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.05480545 |
| 105 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.04356453 |
| 106 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.03366798 |
| 107 | CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.02725631 |
| 108 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 1.02706695 |
| 109 | CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat | 1.01187995 |
| 110 | BCL3_23251550_ChIP-Seq_MUSCLE_Mouse | 1.01014017 |
| 111 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.00833569 |
| 112 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 0.99339341 |
| 113 | WT1_19549856_ChIP-ChIP_CCG9911_Human | 0.99075030 |
| 114 | TBX5_21415370_ChIP-Seq_HL-1_Mouse | 0.97463910 |
| 115 | * TRIM28_19339689_ChIP-ChIP_MESCs_Mouse | 0.97205185 |
| 116 | ATF3_23680149_ChIP-Seq_GBM1-GSC_Human | 0.96858530 |
| 117 | ATF3_27146783_Chip-Seq_COLON_Human | 0.96424391 |
| 118 | E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human | 0.95446245 |
| 119 | SALL4_18804426_ChIP-ChIP_XEN_Mouse | 0.95330528 |
| 120 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 0.95266207 |
| 121 | TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse | 0.95104776 |
| 122 | * SOX2_18692474_ChIP-Seq_MEFs_Mouse | 0.94560118 |
| 123 | NANOG_18555785_ChIP-Seq_MESCs_Mouse | 0.93449295 |
| 124 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 0.93040959 |
| 125 | NANOG_16153702_ChIP-ChIP_HESCs_Human | 0.92983147 |
| 126 | CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 0.92816419 |
| 127 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 0.90947437 |
| 128 | TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 0.90739273 |
| 129 | GATA4_25053715_ChIP-Seq_YYC3_Human | 0.90540407 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0008438_abnormal_cutaneous_collagen | 3.78919789 |
| 2 | MP0006054_spinal_hemorrhage | 3.40551929 |
| 3 | MP0003941_abnormal_skin_development | 3.32483835 |
| 4 | MP0003111_abnormal_nucleus_morphology | 2.68982699 |
| 5 | MP0002139_abnormal_hepatobiliary_system | 2.63124442 |
| 6 | MP0003705_abnormal_hypodermis_morpholog | 2.59053806 |
| 7 | MP0002877_abnormal_melanocyte_morpholog | 2.55856726 |
| 8 | MP0005220_abnormal_exocrine_pancreas | 2.48736555 |
| 9 | MP0010094_abnormal_chromosome_stability | 2.47020871 |
| 10 | MP0003283_abnormal_digestive_organ | 2.24382969 |
| 11 | MP0004264_abnormal_extraembryonic_tissu | 2.12037227 |
| 12 | MP0004272_abnormal_basement_membrane | 2.10393873 |
| 13 | MP0005365_abnormal_bile_salt | 2.06216545 |
| 14 | MP0003693_abnormal_embryo_hatching | 2.06125646 |
| 15 | MP0010030_abnormal_orbit_morphology | 1.90695161 |
| 16 | MP0003806_abnormal_nucleotide_metabolis | 1.90331822 |
| 17 | MP0003300_gastrointestinal_ulcer | 1.85637793 |
| 18 | MP0009697_abnormal_copulation | 1.84714491 |
| 19 | MP0003566_abnormal_cell_adhesion | 1.76877554 |
| 20 | MP0001944_abnormal_pancreas_morphology | 1.76528679 |
| 21 | MP0001666_abnormal_nutrient_absorption | 1.73017183 |
| 22 | MP0005058_abnormal_lysosome_morphology | 1.71574710 |
| 23 | MP0010352_gastrointestinal_tract_polyps | 1.69038330 |
| 24 | MP0003195_calcinosis | 1.67294684 |
| 25 | MP0005275_abnormal_skin_tensile | 1.59515334 |
| 26 | MP0004957_abnormal_blastocyst_morpholog | 1.58002103 |
| 27 | MP0002693_abnormal_pancreas_physiology | 1.53864131 |
| 28 | MP0005360_urolithiasis | 1.52527255 |
| 29 | MP0009053_abnormal_anal_canal | 1.51291725 |
| 30 | MP0001672_abnormal_embryogenesis/_devel | 1.51021152 |
| 31 | MP0005380_embryogenesis_phenotype | 1.51021152 |
| 32 | MP0001849_ear_inflammation | 1.48757431 |
| 33 | MP0005623_abnormal_meninges_morphology | 1.46256817 |
| 34 | MP0003183_abnormal_peptide_metabolism | 1.38897618 |
| 35 | MP0005503_abnormal_tendon_morphology | 1.37136401 |
| 36 | MP0003950_abnormal_plasma_membrane | 1.37018973 |
| 37 | MP0000013_abnormal_adipose_tissue | 1.36689820 |
| 38 | MP0009643_abnormal_urine_homeostasis | 1.35772505 |
| 39 | MP0005408_hypopigmentation | 1.34785573 |
| 40 | MP0003252_abnormal_bile_duct | 1.34753734 |
| 41 | MP0005085_abnormal_gallbladder_physiolo | 1.34421137 |
| 42 | MP0008058_abnormal_DNA_repair | 1.32932873 |
| 43 | MP0004043_abnormal_pH_regulation | 1.32735454 |
| 44 | MP0009780_abnormal_chondrocyte_physiolo | 1.32683783 |
| 45 | MP0000537_abnormal_urethra_morphology | 1.32156270 |
| 46 | MP0002896_abnormal_bone_mineralization | 1.31600916 |
| 47 | MP0005083_abnormal_biliary_tract | 1.29652316 |
| 48 | MP0010234_abnormal_vibrissa_follicle | 1.28836234 |
| 49 | MP0009384_cardiac_valve_regurgitation | 1.27127293 |
| 50 | MP0002084_abnormal_developmental_patter | 1.26450759 |
| 51 | MP0003123_paternal_imprinting | 1.25879553 |
| 52 | MP0005023_abnormal_wound_healing | 1.25660498 |
| 53 | MP0002697_abnormal_eye_size | 1.24835834 |
| 54 | MP0001661_extended_life_span | 1.24833181 |
| 55 | MP0003315_abnormal_perineum_morphology | 1.24726358 |
| 56 | MP0002085_abnormal_embryonic_tissue | 1.22845565 |
| 57 | MP0010386_abnormal_urinary_bladder | 1.22818997 |
| 58 | MP0000678_abnormal_parathyroid_gland | 1.22274925 |
| 59 | MP0003385_abnormal_body_wall | 1.21120428 |
| 60 | MP0002295_abnormal_pulmonary_circulatio | 1.20005724 |
| 61 | MP0000613_abnormal_salivary_gland | 1.18077401 |
| 62 | MP0004233_abnormal_muscle_weight | 1.16845227 |
| 63 | MP0003186_abnormal_redox_activity | 1.16569980 |
| 64 | MP0005076_abnormal_cell_differentiation | 1.15957976 |
| 65 | MP0000762_abnormal_tongue_morphology | 1.13711543 |
| 66 | MP0003868_abnormal_feces_composition | 1.11941452 |
| 67 | MP0003122_maternal_imprinting | 1.10974106 |
| 68 | MP0002166_altered_tumor_susceptibility | 1.10272913 |
| 69 | MP0010307_abnormal_tumor_latency | 1.10058348 |
| 70 | MP0003937_abnormal_limbs/digits/tail_de | 1.08425034 |
| 71 | MP0005451_abnormal_body_composition | 1.08110466 |
| 72 | MP0004782_abnormal_surfactant_physiolog | 1.07564112 |
| 73 | MP0003718_maternal_effect | 1.07185382 |
| 74 | MP0001756_abnormal_urination | 1.03841400 |
| 75 | MP0003890_abnormal_embryonic-extraembry | 0.99774052 |
| 76 | MP0005197_abnormal_uvea_morphology | 0.99593807 |
| 77 | MP0008007_abnormal_cellular_replicative | 0.99323472 |
| 78 | MP0002089_abnormal_postnatal_growth/wei | 0.97992505 |
| 79 | MP0003279_aneurysm | 0.95976355 |
| 80 | MP0001299_abnormal_eye_distance/ | 0.94401629 |
| 81 | MP0000358_abnormal_cell_content/ | 0.93938005 |
| 82 | MP0002060_abnormal_skin_morphology | 0.93822455 |
| 83 | MP0008057_abnormal_DNA_replication | 0.93568061 |
| 84 | MP0002254_reproductive_system_inflammat | 0.93085217 |
| 85 | MP0008875_abnormal_xenobiotic_pharmacok | 0.92746631 |
| 86 | MP0002938_white_spotting | 0.92076679 |
| 87 | MP0000566_synostosis | 0.91618278 |
| 88 | MP0005501_abnormal_skin_physiology | 0.91463326 |
| 89 | MP0003567_abnormal_fetal_cardiomyocyte | 0.91142041 |
| 90 | MP0003172_abnormal_lysosome_physiology | 0.90865066 |
| 91 | MP0005332_abnormal_amino_acid | 0.90448651 |
| 92 | MP0010368_abnormal_lymphatic_system | 0.89661802 |
| 93 | MP0005384_cellular_phenotype | 0.89155426 |
| 94 | MP0000598_abnormal_liver_morphology | 0.88938340 |
| 95 | MP0005621_abnormal_cell_physiology | 0.88711432 |
| 96 | MP0009840_abnormal_foam_cell | 0.88101365 |
| 97 | MP0003959_abnormal_lean_body | 0.87988177 |
| 98 | MP0002092_abnormal_eye_morphology | 0.87901100 |
| 99 | MP0008260_abnormal_autophagy | 0.87595695 |
| 100 | MP0001730_embryonic_growth_arrest | 0.86413842 |
| 101 | MP0005257_abnormal_intraocular_pressure | 0.86317762 |
| 102 | MP0001764_abnormal_homeostasis | 0.85933482 |
| 103 | MP0000428_abnormal_craniofacial_morphol | 0.85712899 |
| 104 | MP0010329_abnormal_lipoprotein_level | 0.85311619 |
| 105 | MP0004197_abnormal_fetal_growth/weight/ | 0.85174985 |
| 106 | MP0002796_impaired_skin_barrier | 0.84602250 |
| 107 | MP0003115_abnormal_respiratory_system | 0.84515732 |
| 108 | MP0000462_abnormal_digestive_system | 0.84047567 |
| 109 | MP0000681_abnormal_thyroid_gland | 0.83938657 |
| 110 | MP0005636_abnormal_mineral_homeostasis | 0.83318010 |
| 111 | MP0002078_abnormal_glucose_homeostasis | 0.83291839 |
| 112 | MP0000163_abnormal_cartilage_morphology | 0.83035213 |
| 113 | MP0000609_abnormal_liver_physiology | 0.82947934 |
| 114 | MP0003942_abnormal_urinary_system | 0.82426563 |
| 115 | MP0005319_abnormal_enzyme/_coenzyme | 0.82023158 |
| 116 | MP0005508_abnormal_skeleton_morphology | 0.81971891 |
| 117 | MP0005310_abnormal_salivary_gland | 0.81400853 |
| 118 | MP0003786_premature_aging | 0.80660853 |
| 119 | MP0003795_abnormal_bone_structure | 0.80298604 |
| 120 | MP0004858_abnormal_nervous_system | 0.79287515 |
| 121 | MP0001293_anophthalmia | 0.78051412 |
| 122 | MP0001243_abnormal_dermal_layer | 0.77308916 |
| 123 | MP0005330_cardiomyopathy | 0.77229927 |
| 124 | MP0000858_altered_metastatic_potential | 0.76754986 |
| 125 | MP0001958_emphysema | 0.76363898 |
| 126 | MP0001915_intracranial_hemorrhage | 0.75362698 |
| 127 | MP0000003_abnormal_adipose_tissue | 0.74930900 |
| 128 | MP0002111_abnormal_tail_morphology | 0.74815248 |
| 129 | MP0000313_abnormal_cell_death | 0.74546898 |
| 130 | MP0005379_endocrine/exocrine_gland_phen | 0.74419002 |
| 131 | MP0001881_abnormal_mammary_gland | 0.73876921 |
| 132 | MP0003077_abnormal_cell_cycle | 0.73236863 |
| 133 | MP0000627_abnormal_mammary_gland | 0.73201870 |
| 134 | MP0002233_abnormal_nose_morphology | 0.72819404 |
| 135 | MP0008932_abnormal_embryonic_tissue | 0.72123679 |
| 136 | MP0003191_abnormal_cellular_cholesterol | 0.71594369 |
| 137 | MP0001533_abnormal_skeleton_physiology | 0.71310882 |
| 138 | MP0002909_abnormal_adrenal_gland | 0.70756137 |
| 139 | MP0002080_prenatal_lethality | 0.69105815 |
| 140 | MP0002138_abnormal_hepatobiliary_system | 0.68408764 |
| 141 | MP0002135_abnormal_kidney_morphology | 0.68338416 |
| 142 | MP0009672_abnormal_birth_weight | 0.68207355 |
| 143 | MP0001697_abnormal_embryo_size | 0.67211957 |
| 144 | MP0002086_abnormal_extraembryonic_tissu | 0.66629843 |
| 145 | MP0002088_abnormal_embryonic_growth/wei | 0.66595098 |
| 146 | MP0001765_abnormal_ion_homeostasis | 0.66428023 |
| 147 | MP0000350_abnormal_cell_proliferation | 0.66419963 |
| 148 | MP0003984_embryonic_growth_retardation | 0.65928092 |
| 149 | MP0005084_abnormal_gallbladder_morpholo | 0.64094141 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormality of the intrinsic pathway (HP:0010989) | 4.66024526 |
| 2 | Hypoglycemic coma (HP:0001325) | 4.43108498 |
| 3 | Hypoglycemic seizures (HP:0002173) | 3.82643944 |
| 4 | Hyperinsulinemic hypoglycemia (HP:0000825) | 3.81346707 |
| 5 | Cervical subluxation (HP:0003308) | 3.45913410 |
| 6 | Abnormality of the common coagulation pathway (HP:0010990) | 3.42567132 |
| 7 | Abnormality of glycolysis (HP:0004366) | 3.38334542 |
| 8 | Protrusio acetabuli (HP:0003179) | 3.35383007 |
| 9 | Abnormality of endocrine pancreas physiology (HP:0012093) | 3.34750871 |
| 10 | Abnormality of the pancreatic islet cells (HP:0006476) | 3.34750871 |
| 11 | Premature rupture of membranes (HP:0001788) | 3.33694834 |
| 12 | Thrombocytosis (HP:0001894) | 3.26265886 |
| 13 | Vacuolated lymphocytes (HP:0001922) | 3.23173142 |
| 14 | Increased serum pyruvate (HP:0003542) | 3.19805249 |
| 15 | Generalized aminoaciduria (HP:0002909) | 3.17515188 |
| 16 | Symptomatic seizures (HP:0011145) | 3.15212347 |
| 17 | Mucopolysacchariduria (HP:0008155) | 3.09762298 |
| 18 | Urinary glycosaminoglycan excretion (HP:0003541) | 3.09762298 |
| 19 | Beaking of vertebral bodies (HP:0004568) | 2.92846588 |
| 20 | Pancreatic islet-cell hyperplasia (HP:0004510) | 2.87342871 |
| 21 | Dysostosis multiplex (HP:0000943) | 2.85665359 |
| 22 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 2.77167721 |
| 23 | Abnormal protein N-linked glycosylation (HP:0012347) | 2.77167721 |
| 24 | Abnormal protein glycosylation (HP:0012346) | 2.77167721 |
| 25 | Abnormal glycosylation (HP:0012345) | 2.77167721 |
| 26 | Small epiphyses (HP:0010585) | 2.72348731 |
| 27 | Thoracolumbar scoliosis (HP:0002944) | 2.72001568 |
| 28 | Abnormality of monocarboxylic acid metabolism (HP:0010996) | 2.67078032 |
| 29 | Ketoacidosis (HP:0001993) | 2.66248676 |
| 30 | Nonimmune hydrops fetalis (HP:0001790) | 2.64370513 |
| 31 | Intrahepatic cholestasis (HP:0001406) | 2.61564614 |
| 32 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 2.60997424 |
| 33 | Abnormality of mucopolysaccharide metabolism (HP:0011020) | 2.59843557 |
| 34 | Abnormality of polysaccharide metabolism (HP:0011012) | 2.59843557 |
| 35 | Abnormality of glycosaminoglycan metabolism (HP:0004371) | 2.59843557 |
| 36 | Abnormality of carpal bone ossification (HP:0006257) | 2.59698178 |
| 37 | Abnormal gallbladder physiology (HP:0012438) | 2.56968707 |
| 38 | Cholecystitis (HP:0001082) | 2.56968707 |
| 39 | Abnormal pancreas size (HP:0012094) | 2.50737589 |
| 40 | Type I transferrin isoform profile (HP:0003642) | 2.49591014 |
| 41 | Hyperglycemia (HP:0003074) | 2.47434677 |
| 42 | Asymmetry of the thorax (HP:0001555) | 2.45340570 |
| 43 | Late onset (HP:0003584) | 2.44717381 |
| 44 | Abnormal foot bone ossification (HP:0010675) | 2.41957437 |
| 45 | Abnormal delivery (HP:0001787) | 2.37934271 |
| 46 | Abnormality of aromatic amino acid family metabolism (HP:0004338) | 2.37864981 |
| 47 | Pterygium (HP:0001059) | 2.33116436 |
| 48 | Selective tooth agenesis (HP:0001592) | 2.29990963 |
| 49 | 11 pairs of ribs (HP:0000878) | 2.28800219 |
| 50 | Abnormality of dentin (HP:0010299) | 2.28435000 |
| 51 | Reduced antithrombin III activity (HP:0001976) | 2.27722623 |
| 52 | Increased nuchal translucency (HP:0010880) | 2.25909148 |
| 53 | Cerebral aneurysm (HP:0004944) | 2.25173017 |
| 54 | Renal duplication (HP:0000075) | 2.21225892 |
| 55 | Back pain (HP:0003418) | 2.21035835 |
| 56 | Missing ribs (HP:0000921) | 2.20746173 |
| 57 | Breech presentation (HP:0001623) | 2.20343819 |
| 58 | Aortic aneurysm (HP:0004942) | 2.20257938 |
| 59 | Abnormality of the anterior horn cell (HP:0006802) | 2.19896669 |
| 60 | Degeneration of anterior horn cells (HP:0002398) | 2.19896669 |
| 61 | Deep venous thrombosis (HP:0002625) | 2.18960676 |
| 62 | Hypobetalipoproteinemia (HP:0003563) | 2.17379770 |
| 63 | Deviation of the thumb (HP:0009603) | 2.16699075 |
| 64 | Aortic dissection (HP:0002647) | 2.16260554 |
| 65 | Ketosis (HP:0001946) | 2.15286130 |
| 66 | Fat malabsorption (HP:0002630) | 2.15156531 |
| 67 | Microglossia (HP:0000171) | 2.13561840 |
| 68 | Platyspondyly (HP:0000926) | 2.13476202 |
| 69 | Overlapping toe (HP:0001845) | 2.12819930 |
| 70 | Absent epiphyses (HP:0010577) | 2.11134974 |
| 71 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 2.11134974 |
| 72 | Abnormality of the umbilical cord (HP:0010881) | 2.10630403 |
| 73 | Atrophic scars (HP:0001075) | 2.10385757 |
| 74 | Hand muscle atrophy (HP:0009130) | 2.10311731 |
| 75 | Trismus (HP:0000211) | 2.09835171 |
| 76 | Soft skin (HP:0000977) | 2.09576565 |
| 77 | Flat acetabular roof (HP:0003180) | 2.08410757 |
| 78 | Orthostatic hypotension (HP:0001278) | 2.05881654 |
| 79 | Severe short stature (HP:0003510) | 2.04583180 |
| 80 | Microvesicular hepatic steatosis (HP:0001414) | 2.03867434 |
| 81 | Insulin resistance (HP:0000855) | 2.03619620 |
| 82 | Abnormalities of placenta or umbilical cord (HP:0001194) | 2.03039419 |
| 83 | Abnormal ossification of hand bones (HP:0005921) | 2.03018854 |
| 84 | Aplastic anemia (HP:0001915) | 2.02432728 |
| 85 | Abnormal tarsal ossification (HP:0008369) | 2.01471720 |
| 86 | Blue sclerae (HP:0000592) | 2.00973309 |
| 87 | Hypoplasia of the pons (HP:0012110) | 2.00717496 |
| 88 | Abdominal distention (HP:0003270) | 2.00664546 |
| 89 | Osteolytic defects of the hand bones (HP:0009699) | 1.97936515 |
| 90 | Osteolytic defects of the phalanges of the hand (HP:0009771) | 1.97936515 |
| 91 | Arterial tortuosity (HP:0005116) | 1.97733107 |
| 92 | Abnormal cartilage morphology (HP:0002763) | 1.95974357 |
| 93 | Protuberant abdomen (HP:0001538) | 1.95703072 |
| 94 | Hypolipoproteinemia (HP:0010981) | 1.94705355 |
| 95 | Proximal placement of thumb (HP:0009623) | 1.94658730 |
| 96 | Ankyloglossia (HP:0010296) | 1.93892912 |
| 97 | Epiphyseal dysplasia (HP:0002656) | 1.91645158 |
| 98 | Conjugated hyperbilirubinemia (HP:0002908) | 1.91579799 |
| 99 | Joint stiffness (HP:0001387) | 1.91428802 |
| 100 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 1.90406731 |
| 101 | Wormian bones (HP:0002645) | 1.90248627 |
| 102 | Short nail (HP:0001799) | 1.88024793 |
| 103 | Aplasia/Hypoplasia of the vertebrae (HP:0008515) | 1.87746583 |
| 104 | Vertebral hypoplasia (HP:0008417) | 1.87746583 |
| 105 | Metaphyseal cupping (HP:0003021) | 1.86553934 |
| 106 | Abnormality of the calcaneus (HP:0008364) | 1.86081383 |
| 107 | Vertebral compression fractures (HP:0002953) | 1.85622972 |
| 108 | Elevated circulating parathyroid hormone (PTH) level (HP:0003165) | 1.85284817 |
| 109 | Abnormality of methionine metabolism (HP:0010901) | 1.84886401 |
| 110 | Vascular tortuosity (HP:0004948) | 1.84562589 |
| 111 | Nephroblastoma (Wilms tumor) (HP:0002667) | 1.83962866 |
| 112 | Prominent metopic ridge (HP:0005487) | 1.82698499 |
| 113 | Prolonged partial thromboplastin time (HP:0003645) | 1.82386727 |
| 114 | Bladder diverticulum (HP:0000015) | 1.82298631 |
| 115 | Aneurysm (HP:0002617) | 1.82245580 |
| 116 | Single umbilical artery (HP:0001195) | 1.81877782 |
| 117 | Abnormality of the fetal cardiovascular system (HP:0010948) | 1.81877782 |
| 118 | Abnormal umbilical cord blood vessels (HP:0011403) | 1.81877782 |
| 119 | Spastic diplegia (HP:0001264) | 1.81871655 |
| 120 | Abnormality of the acetabulum (HP:0003170) | 1.81511560 |
| 121 | Hypercholesterolemia (HP:0003124) | 1.81395906 |
| 122 | Abnormality of oral frenula (HP:0000190) | 1.79509920 |
| 123 | Coxa valga (HP:0002673) | 1.78900834 |
| 124 | Elevated alkaline phosphatase (HP:0003155) | 1.78469566 |
| 125 | Cardiovascular calcification (HP:0011915) | 1.78128371 |
| 126 | Multiple enchondromatosis (HP:0005701) | 1.78078886 |
| 127 | Abnormality of pain sensation (HP:0010832) | 1.77007350 |
| 128 | Impaired pain sensation (HP:0007328) | 1.77007350 |
| 129 | Elbow flexion contracture (HP:0002987) | 1.76793766 |
| 130 | Ulnar bowing (HP:0003031) | 1.76581823 |
| 131 | Chromsome breakage (HP:0040012) | 1.76502432 |
| 132 | Abnormality of the pons (HP:0007361) | 1.76312751 |
| 133 | Embryonal renal neoplasm (HP:0011794) | 1.76002429 |
| 134 | Disproportionate short-trunk short stature (HP:0003521) | 1.75795840 |
| 135 | Abnormality of subcutaneous fat tissue (HP:0001001) | 1.74463104 |
| 136 | Abnormal hand bone ossification (HP:0010660) | 1.73351695 |
| 137 | Steatorrhea (HP:0002570) | 1.72724346 |
| 138 | Abnormality of alkaline phosphatase activity (HP:0004379) | 1.72295030 |
| 139 | Abnormal enzyme/coenzyme activity (HP:0012379) | 1.72237233 |
| 140 | Vascular calcification (HP:0004934) | 1.71236526 |
| 141 | Exocrine pancreatic insufficiency (HP:0001738) | 1.70494258 |
| 142 | Xanthomatosis (HP:0000991) | 1.70147387 |
| 143 | Secondary amenorrhea (HP:0000869) | 1.69998401 |
| 144 | Poor head control (HP:0002421) | 1.69864111 |
| 145 | Insulin-resistant diabetes mellitus (HP:0000831) | 1.69260227 |
| 146 | Rough bone trabeculation (HP:0100670) | 1.68666571 |
| 147 | Delayed cranial suture closure (HP:0000270) | 1.67765930 |
| 148 | Right ventricular cardiomyopathy (HP:0011663) | 1.67566685 |
| 149 | Peritonitis (HP:0002586) | 1.67525959 |
| 150 | Biconcave vertebral bodies (HP:0004586) | 1.67425343 |
| 151 | Fragile skin (HP:0001030) | 1.66455944 |
| 152 | Ankle contracture (HP:0006466) | 1.66149431 |
| 153 | Abnormal biliary tract morphology (HP:0012440) | 1.66126544 |
| 154 | Large for gestational age (HP:0001520) | 1.63878574 |
| 155 | Wide nose (HP:0000445) | 1.63567943 |
| 156 | Abnormality of the Achilles tendon (HP:0005109) | 1.61606948 |
| 157 | Skin nodule (HP:0200036) | 1.60131650 |
| 158 | Natal tooth (HP:0000695) | 1.59837980 |
| 159 | Abnormality of the lumbar spine (HP:0100712) | 1.59632735 |
| 160 | Vaginal fistula (HP:0004320) | 1.59467128 |
| 161 | Irregular epiphyses (HP:0010582) | 1.58534713 |
| 162 | Abnormal lung lobation (HP:0002101) | 1.57876739 |
| 163 | Wide cranial sutures (HP:0010537) | 1.57304675 |
| 164 | Pancreatitis (HP:0001733) | 1.57093281 |
| 165 | Hypoplasia of the odontoid process (HP:0003311) | 1.56062406 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | ERN1 | 4.85835263 |
| 2 | PASK | 3.75032457 |
| 3 | SCYL2 | 2.84470792 |
| 4 | BCKDK | 2.82056014 |
| 5 | TAOK3 | 2.80963184 |
| 6 | PBK | 2.77163833 |
| 7 | EIF2AK3 | 2.53741287 |
| 8 | FLT3 | 2.51251064 |
| 9 | FRK | 2.43840792 |
| 10 | PKN2 | 2.41027254 |
| 11 | INSRR | 2.34784172 |
| 12 | TRIB3 | 2.30578801 |
| 13 | VRK2 | 2.06809080 |
| 14 | EPHA2 | 2.02438968 |
| 15 | SMG1 | 1.90271876 |
| 16 | TESK1 | 1.89412599 |
| 17 | LATS1 | 1.88382659 |
| 18 | AKT3 | 1.80683950 |
| 19 | LATS2 | 1.80294247 |
| 20 | BRSK2 | 1.77968362 |
| 21 | SIK1 | 1.64071297 |
| 22 | TSSK6 | 1.61549958 |
| 23 | EIF2AK1 | 1.56747698 |
| 24 | ERBB4 | 1.55280996 |
| 25 | NME2 | 1.51717271 |
| 26 | PTK6 | 1.50885608 |
| 27 | PDGFRA | 1.48969601 |
| 28 | MST4 | 1.48904570 |
| 29 | PIK3CG | 1.45586659 |
| 30 | TGFBR1 | 1.38753101 |
| 31 | PAK4 | 1.36234628 |
| 32 | RPS6KB2 | 1.33471777 |
| 33 | CDK12 | 1.31190919 |
| 34 | EEF2K | 1.31029137 |
| 35 | TESK2 | 1.30489003 |
| 36 | MAP3K3 | 1.30377460 |
| 37 | MKNK1 | 1.29173882 |
| 38 | MET | 1.26600934 |
| 39 | NEK9 | 1.26539225 |
| 40 | BUB1 | 1.24180540 |
| 41 | NTRK1 | 1.23261011 |
| 42 | PLK4 | 1.21402262 |
| 43 | LRRK2 | 1.18890590 |
| 44 | ICK | 1.12877888 |
| 45 | WEE1 | 1.07745572 |
| 46 | MAPK15 | 1.05839527 |
| 47 | BCR | 1.03715996 |
| 48 | PDK2 | 1.00836648 |
| 49 | KDR | 0.96145806 |
| 50 | ARAF | 0.95641656 |
| 51 | MAP3K12 | 0.93082015 |
| 52 | IRAK3 | 0.91006046 |
| 53 | PAK2 | 0.89847301 |
| 54 | TAF1 | 0.89176658 |
| 55 | CDK6 | 0.87577892 |
| 56 | MAP3K8 | 0.86880666 |
| 57 | PTK2 | 0.85068320 |
| 58 | TTN | 0.84657066 |
| 59 | DDR2 | 0.83802257 |
| 60 | MAP2K3 | 0.83770613 |
| 61 | FER | 0.82664106 |
| 62 | CHEK2 | 0.82112550 |
| 63 | STK10 | 0.80845037 |
| 64 | STK16 | 0.80076858 |
| 65 | STK3 | 0.79549318 |
| 66 | MAPKAPK3 | 0.79333925 |
| 67 | NME1 | 0.77529530 |
| 68 | CHEK1 | 0.77473965 |
| 69 | MAP3K2 | 0.76553046 |
| 70 | MAP3K10 | 0.76219761 |
| 71 | LIMK1 | 0.74525701 |
| 72 | RPS6KA4 | 0.74450575 |
| 73 | EPHA3 | 0.74394180 |
| 74 | CDC7 | 0.73092784 |
| 75 | AURKB | 0.71178845 |
| 76 | PIM2 | 0.69908029 |
| 77 | STK38L | 0.68906848 |
| 78 | CLK1 | 0.68785696 |
| 79 | CDK7 | 0.68588585 |
| 80 | BTK | 0.68375001 |
| 81 | NUAK1 | 0.67061367 |
| 82 | FGFR4 | 0.65484484 |
| 83 | ALK | 0.64709696 |
| 84 | PRKCI | 0.64542015 |
| 85 | MKNK2 | 0.63067344 |
| 86 | LMTK2 | 0.61757949 |
| 87 | TRIM28 | 0.60387354 |
| 88 | JAK3 | 0.60192562 |
| 89 | MST1R | 0.59821441 |
| 90 | MAP2K2 | 0.59760614 |
| 91 | EIF2AK2 | 0.59605717 |
| 92 | MYLK | 0.59116928 |
| 93 | HIPK2 | 0.58550163 |
| 94 | ACVR1B | 0.56593151 |
| 95 | MTOR | 0.56544687 |
| 96 | CDK4 | 0.55831588 |
| 97 | MAP3K9 | 0.52479434 |
| 98 | VRK1 | 0.52104830 |
| 99 | IRAK4 | 0.51521060 |
| 100 | CDK9 | 0.51484047 |
| 101 | ATM | 0.51010871 |
| 102 | ATR | 0.47996249 |
| 103 | BMX | 0.47643011 |
| 104 | ILK | 0.47157999 |
| 105 | FGFR3 | 0.47074743 |
| 106 | FGFR1 | 0.46861634 |
| 107 | NEK2 | 0.46746336 |
| 108 | STK4 | 0.46068712 |
| 109 | PLK2 | 0.45994454 |
| 110 | TEC | 0.44902871 |
| 111 | BRAF | 0.44833989 |
| 112 | PLK3 | 0.44569937 |
| 113 | TTK | 0.43821014 |
| 114 | CSF1R | 0.43216629 |
| 115 | SRPK1 | 0.43027725 |
| 116 | MELK | 0.42795107 |
| 117 | EPHB2 | 0.42771581 |
| 118 | CDK18 | 0.42545976 |
| 119 | BRSK1 | 0.42367893 |
| 120 | ERBB3 | 0.42267692 |
| 121 | AKT2 | 0.42247744 |
| 122 | TGFBR2 | 0.41658248 |
| 123 | ZAP70 | 0.41271197 |
| 124 | RPS6KA2 | 0.40603267 |
| 125 | PLK1 | 0.39434617 |
| 126 | TYK2 | 0.39278416 |
| 127 | RPS6KL1 | 0.38996834 |
| 128 | RPS6KC1 | 0.38996834 |
| 129 | ABL2 | 0.38012499 |
| 130 | DYRK1B | 0.37744317 |
| 131 | TRPM7 | 0.37731424 |
| 132 | CSNK2A2 | 0.37430193 |
| 133 | NEK1 | 0.35244167 |
| 134 | JAK2 | 0.35137016 |
| 135 | AURKA | 0.33941208 |
| 136 | CDK8 | 0.33696451 |
| 137 | RPS6KA6 | 0.33020905 |
| 138 | TIE1 | 0.31431234 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Protein export_Homo sapiens_hsa03060 | 5.89159546 |
| 2 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 4.24705417 |
| 3 | * Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 4.05723804 |
| 4 | Sulfur metabolism_Homo sapiens_hsa00920 | 2.96634438 |
| 5 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 2.80564935 |
| 6 | Selenocompound metabolism_Homo sapiens_hsa00450 | 2.23091736 |
| 7 | One carbon pool by folate_Homo sapiens_hsa00670 | 2.20137872 |
| 8 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 2.06585419 |
| 9 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 1.87547190 |
| 10 | Other glycan degradation_Homo sapiens_hsa00511 | 1.82015975 |
| 11 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 1.81686374 |
| 12 | DNA replication_Homo sapiens_hsa03030 | 1.61886505 |
| 13 | Proteasome_Homo sapiens_hsa03050 | 1.50324176 |
| 14 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 1.49207332 |
| 15 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.48763132 |
| 16 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.48075603 |
| 17 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.45909376 |
| 18 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 1.42009299 |
| 19 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 1.41373679 |
| 20 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.38615683 |
| 21 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 1.38487253 |
| 22 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.34324618 |
| 23 | Galactose metabolism_Homo sapiens_hsa00052 | 1.26239589 |
| 24 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 1.26223067 |
| 25 | Folate biosynthesis_Homo sapiens_hsa00790 | 1.24886026 |
| 26 | Lysosome_Homo sapiens_hsa04142 | 1.22167141 |
| 27 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 1.18929127 |
| 28 | Mismatch repair_Homo sapiens_hsa03430 | 1.18901537 |
| 29 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.17204438 |
| 30 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.15385457 |
| 31 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 1.14783830 |
| 32 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.13652029 |
| 33 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 1.07402414 |
| 34 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 1.06240901 |
| 35 | Legionellosis_Homo sapiens_hsa05134 | 1.05958474 |
| 36 | Renin-angiotensin system_Homo sapiens_hsa04614 | 1.05509646 |
| 37 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 1.01322974 |
| 38 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 1.01232657 |
| 39 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 1.00904611 |
| 40 | Ribosome_Homo sapiens_hsa03010 | 0.97415363 |
| 41 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 0.96136071 |
| 42 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.94166836 |
| 43 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.93590953 |
| 44 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.93535048 |
| 45 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.92127381 |
| 46 | Base excision repair_Homo sapiens_hsa03410 | 0.90868167 |
| 47 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.90411903 |
| 48 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 0.90400759 |
| 49 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.89305201 |
| 50 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.88770454 |
| 51 | Carbon metabolism_Homo sapiens_hsa01200 | 0.87663695 |
| 52 | Adherens junction_Homo sapiens_hsa04520 | 0.87274397 |
| 53 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 0.86536742 |
| 54 | RNA transport_Homo sapiens_hsa03013 | 0.85735582 |
| 55 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.82471409 |
| 56 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.81415580 |
| 57 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.81229853 |
| 58 | Bladder cancer_Homo sapiens_hsa05219 | 0.80528503 |
| 59 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.77225440 |
| 60 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.77009500 |
| 61 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.75848987 |
| 62 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 0.75579006 |
| 63 | Spliceosome_Homo sapiens_hsa03040 | 0.75267745 |
| 64 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.75194542 |
| 65 | Histidine metabolism_Homo sapiens_hsa00340 | 0.74936980 |
| 66 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.73750171 |
| 67 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.73549274 |
| 68 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.72425347 |
| 69 | Sulfur relay system_Homo sapiens_hsa04122 | 0.70892569 |
| 70 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.69997454 |
| 71 | Peroxisome_Homo sapiens_hsa04146 | 0.69424900 |
| 72 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.63217699 |
| 73 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 0.63031566 |
| 74 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.59864456 |
| 75 | Cell cycle_Homo sapiens_hsa04110 | 0.58745731 |
| 76 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.58651299 |
| 77 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.58239849 |
| 78 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.57910829 |
| 79 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.56953583 |
| 80 | Phagosome_Homo sapiens_hsa04145 | 0.56058149 |
| 81 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.54362217 |
| 82 | Small cell lung cancer_Homo sapiens_hsa05222 | 0.53890071 |
| 83 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.53579939 |
| 84 | Purine metabolism_Homo sapiens_hsa00230 | 0.52457165 |
| 85 | Prostate cancer_Homo sapiens_hsa05215 | 0.52385216 |
| 86 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.51870434 |
| 87 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.51834088 |
| 88 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.51000338 |
| 89 | Focal adhesion_Homo sapiens_hsa04510 | 0.50425954 |
| 90 | Prion diseases_Homo sapiens_hsa05020 | 0.50401468 |
| 91 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.50166363 |
| 92 | RNA degradation_Homo sapiens_hsa03018 | 0.49347335 |
| 93 | Lysine degradation_Homo sapiens_hsa00310 | 0.48626397 |
| 94 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.46758240 |
| 95 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.46194874 |
| 96 | Thyroid cancer_Homo sapiens_hsa05216 | 0.46155820 |
| 97 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 0.46004022 |
| 98 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.42886056 |
| 99 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.42349579 |
| 100 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.40444426 |
| 101 | Metabolic pathways_Homo sapiens_hsa01100 | 0.40290253 |
| 102 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.39857630 |
| 103 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.38923947 |
| 104 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.38050863 |
| 105 | Homologous recombination_Homo sapiens_hsa03440 | 0.37570981 |
| 106 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.37287616 |
| 107 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.36759510 |
| 108 | Insulin resistance_Homo sapiens_hsa04931 | 0.36594835 |
| 109 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.36421204 |
| 110 | RNA polymerase_Homo sapiens_hsa03020 | 0.36390872 |
| 111 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.36158516 |
| 112 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.35038274 |
| 113 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 0.34118159 |
| 114 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.33843129 |
| 115 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.33821600 |
| 116 | Amoebiasis_Homo sapiens_hsa05146 | 0.33470441 |
| 117 | Shigellosis_Homo sapiens_hsa05131 | 0.33132697 |
| 118 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.32707680 |
| 119 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.32280494 |
| 120 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.30887244 |
| 121 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 0.30809853 |
| 122 | Tight junction_Homo sapiens_hsa04530 | 0.30533793 |
| 123 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 0.30253019 |

