

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | maintenance of protein localization in endoplasmic reticulum (GO:0035437) | 8.37679536 |
| 2 | protein retention in ER lumen (GO:0006621) | 7.61185709 |
| 3 | signal peptide processing (GO:0006465) | 6.53769369 |
| 4 | protein maturation by protein folding (GO:0022417) | 6.45380993 |
| 5 | COPII vesicle coating (GO:0048208) | 5.99685903 |
| 6 | retrograde vesicle-mediated transport, Golgi to ER (GO:0006890) | 5.83403048 |
| 7 | activation of signaling protein activity involved in unfolded protein response (GO:0006987) | 5.43161440 |
| 8 | positive regulation of nuclease activity (GO:0032075) | 5.37423623 |
| 9 | sequestering of metal ion (GO:0051238) | 5.04864434 |
| 10 | regulation of nuclease activity (GO:0032069) | 4.92349638 |
| 11 | exocrine pancreas development (GO:0031017) | 4.74438041 |
| 12 | endoplasmic reticulum unfolded protein response (GO:0030968) | 4.69403940 |
| 13 | cellular response to unfolded protein (GO:0034620) | 4.56165776 |
| 14 | cellular response to topologically incorrect protein (GO:0035967) | 4.50927618 |
| 15 | folic acid-containing compound biosynthetic process (GO:0009396) | 4.48570633 |
| 16 | ER-associated ubiquitin-dependent protein catabolic process (GO:0030433) | 4.44177891 |
| 17 | * protein N-linked glycosylation via asparagine (GO:0018279) | 4.28257018 |
| 18 | ER-nucleus signaling pathway (GO:0006984) | 4.26042593 |
| 19 | * peptidyl-asparagine modification (GO:0018196) | 4.24693828 |
| 20 | vesicle coating (GO:0006901) | 4.22689416 |
| 21 | * SRP-dependent cotranslational protein targeting to membrane (GO:0006614) | 4.13298583 |
| 22 | endocrine pancreas development (GO:0031018) | 4.06821938 |
| 23 | * protein targeting to ER (GO:0045047) | 4.03088109 |
| 24 | * cotranslational protein targeting to membrane (GO:0006613) | 4.00936211 |
| 25 | peptide hormone processing (GO:0016486) | 3.98272763 |
| 26 | * protein N-linked glycosylation (GO:0006487) | 3.92545907 |
| 27 | protein autoprocessing (GO:0016540) | 3.90463300 |
| 28 | GDP-mannose metabolic process (GO:0019673) | 3.85434157 |
| 29 | * establishment of protein localization to endoplasmic reticulum (GO:0072599) | 3.84524169 |
| 30 | proline biosynthetic process (GO:0006561) | 3.84400161 |
| 31 | * protein localization to endoplasmic reticulum (GO:0070972) | 3.80178448 |
| 32 | response to endoplasmic reticulum stress (GO:0034976) | 3.80092950 |
| 33 | establishment of integrated proviral latency (GO:0075713) | 3.76181911 |
| 34 | DNA deamination (GO:0045006) | 3.74833841 |
| 35 | glandular epithelial cell differentiation (GO:0002067) | 3.71657902 |
| 36 | pteridine-containing compound biosynthetic process (GO:0042559) | 3.71345447 |
| 37 | antigen processing and presentation of endogenous peptide antigen (GO:0002483) | 3.66938625 |
| 38 | antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885) | 3.66938625 |
| 39 | response to unfolded protein (GO:0006986) | 3.61022781 |
| 40 | negative regulation of glycoprotein biosynthetic process (GO:0010561) | 3.60705434 |
| 41 | response to topologically incorrect protein (GO:0035966) | 3.56953255 |
| 42 | peptidyl-arginine omega-N-methylation (GO:0035247) | 3.53534041 |
| 43 | 4-hydroxyproline metabolic process (GO:0019471) | 3.51573650 |
| 44 | regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902235 | 3.41599464 |
| 45 | ER to Golgi vesicle-mediated transport (GO:0006888) | 3.41474246 |
| 46 | establishment of viral latency (GO:0019043) | 3.40830950 |
| 47 | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436) | 3.40344907 |
| 48 | ribosomal small subunit assembly (GO:0000028) | 3.39792275 |
| 49 | pinocytosis (GO:0006907) | 3.36434011 |
| 50 | nucleobase-containing small molecule interconversion (GO:0015949) | 3.32064782 |
| 51 | negative regulation of ubiquitin-protein transferase activity (GO:0051444) | 3.29686718 |
| 52 | negative regulation of ligase activity (GO:0051352) | 3.29686718 |
| 53 | UDP-N-acetylglucosamine metabolic process (GO:0006047) | 3.26710300 |
| 54 | regulation of type B pancreatic cell apoptotic process (GO:2000674) | 3.21613725 |
| 55 | negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471) | 3.18817226 |
| 56 | type B pancreatic cell development (GO:0003323) | 3.16067444 |
| 57 | cell redox homeostasis (GO:0045454) | 3.15321881 |
| 58 | positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437) | 3.10124292 |
| 59 | pentose-phosphate shunt (GO:0006098) | 3.09896953 |
| 60 | regulation of cellular amino acid metabolic process (GO:0006521) | 3.08687393 |
| 61 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) | 3.08448042 |
| 62 | peptide catabolic process (GO:0043171) | 3.07060357 |
| 63 | chaperone-mediated protein folding (GO:0061077) | 3.05077612 |
| 64 | maintenance of protein localization in organelle (GO:0072595) | 3.04238804 |
| 65 | glandular epithelial cell development (GO:0002068) | 3.04201427 |
| 66 | proteasome assembly (GO:0043248) | 3.03939812 |
| 67 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0 | 3.03696324 |
| 68 | mitotic nuclear envelope reassembly (GO:0007084) | 3.00836545 |
| 69 | nuclear envelope reassembly (GO:0031468) | 3.00836545 |
| 70 | cellular response to vitamin D (GO:0071305) | 2.96510757 |
| 71 | maturation of SSU-rRNA (GO:0030490) | 2.96432700 |
| 72 | histone arginine methylation (GO:0034969) | 2.94315868 |
| 73 | L-alpha-amino acid transmembrane transport (GO:1902475) | 2.92184017 |
| 74 | maternal placenta development (GO:0001893) | 2.90258764 |
| 75 | tRNA aminoacylation for protein translation (GO:0006418) | 2.89881011 |
| 76 | response to misfolded protein (GO:0051788) | 2.89806067 |
| 77 | signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431) | 2.88197473 |
| 78 | intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400) | 2.88197473 |
| 79 | DNA strand elongation involved in DNA replication (GO:0006271) | 2.87890199 |
| 80 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00 | 2.87562580 |
| 81 | formation of translation preinitiation complex (GO:0001731) | 2.85489541 |
| 82 | signal transduction involved in mitotic cell cycle checkpoint (GO:0072413) | 2.85043699 |
| 83 | signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403) | 2.85043699 |
| 84 | signal transduction involved in mitotic DNA damage checkpoint (GO:1902402) | 2.85043699 |
| 85 | signal transduction involved in DNA damage checkpoint (GO:0072422) | 2.83449089 |
| 86 | signal transduction involved in DNA integrity checkpoint (GO:0072401) | 2.83449089 |
| 87 | regulation of mitochondrial translation (GO:0070129) | 2.82932203 |
| 88 | antigen processing and presentation of endogenous antigen (GO:0019883) | 2.81361589 |
| 89 | ribosomal large subunit biogenesis (GO:0042273) | 2.79634044 |
| 90 | positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241) | 2.79369141 |
| 91 | deoxyribonucleoside monophosphate metabolic process (GO:0009162) | 2.78700016 |
| 92 | negative regulation of glycoprotein metabolic process (GO:1903019) | 2.77988047 |
| 93 | amino acid activation (GO:0043038) | 2.76538262 |
| 94 | tRNA aminoacylation (GO:0043039) | 2.76538262 |
| 95 | lipopolysaccharide biosynthetic process (GO:0009103) | 2.75480910 |
| 96 | regulation of translational termination (GO:0006449) | 2.75097676 |
| 97 | telomere maintenance via semi-conservative replication (GO:0032201) | 2.74435945 |
| 98 | ribosomal small subunit biogenesis (GO:0042274) | 2.73079553 |
| 99 | signal transduction involved in cell cycle checkpoint (GO:0072395) | 2.72984284 |
| 100 | misfolded or incompletely synthesized protein catabolic process (GO:0006515) | 2.72801306 |
| 101 | * protein targeting to membrane (GO:0006612) | 2.72534560 |
| 102 | NADPH regeneration (GO:0006740) | 2.72532453 |
| 103 | positive regulation of insulin secretion (GO:0032024) | 2.71671725 |
| 104 | regulation of ER to Golgi vesicle-mediated transport (GO:0060628) | 2.71576519 |
| 105 | peptidyl-arginine methylation (GO:0018216) | 2.70363096 |
| 106 | peptidyl-arginine N-methylation (GO:0035246) | 2.70363096 |
| 107 | DNA strand elongation (GO:0022616) | 2.69707044 |
| 108 | positive regulation of ubiquitin-protein transferase activity (GO:0051443) | 2.69432576 |
| 109 | skin morphogenesis (GO:0043589) | 2.69054463 |
| 110 | ER overload response (GO:0006983) | 2.63719516 |
| 111 | amyloid precursor protein catabolic process (GO:0042987) | 2.62750764 |
| 112 | viral transcription (GO:0019083) | 2.60238647 |
| 113 | tricarboxylic acid metabolic process (GO:0072350) | 2.57654555 |
| 114 | peptidyl-proline hydroxylation (GO:0019511) | 2.57128735 |
| 115 | Golgi organization (GO:0007030) | 2.57104773 |
| 116 | positive regulation of ligase activity (GO:0051351) | 2.56827676 |
| 117 | ribosome assembly (GO:0042255) | 2.55664967 |
| 118 | regulation of ubiquitin-protein transferase activity (GO:0051438) | 2.54872661 |
| 119 | translational termination (GO:0006415) | 2.54672267 |
| 120 | pentose metabolic process (GO:0019321) | 2.54198861 |
| 121 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO: | 2.52015497 |
| 122 | IMP biosynthetic process (GO:0006188) | 2.51585457 |
| 123 | translational elongation (GO:0006414) | 2.50740130 |
| 124 | glucose catabolic process (GO:0006007) | 2.49964786 |
| 125 | tricarboxylic acid cycle (GO:0006099) | 2.49899179 |
| 126 | ribonucleoprotein complex biogenesis (GO:0022613) | 2.49761063 |
| 127 | protein hydroxylation (GO:0018126) | 2.48494712 |
| 128 | galactose catabolic process (GO:0019388) | 2.47904143 |
| 129 | antigen processing and presentation via MHC class Ib (GO:0002475) | 2.47399923 |
| 130 | glucose 6-phosphate metabolic process (GO:0051156) | 2.47249760 |
| 131 | nucleotide-sugar biosynthetic process (GO:0009226) | 2.47148693 |
| 132 | * translation (GO:0006412) | 2.46768400 |
| 133 | NADH metabolic process (GO:0006734) | 2.46686087 |
| 134 | antigen processing and presentation of peptide antigen via MHC class I (GO:0002474) | 2.45124508 |
| 135 | nucleotide-sugar metabolic process (GO:0009225) | 2.45070735 |
| 136 | chaperone mediated protein folding requiring cofactor (GO:0051085) | 2.44947180 |
| 137 | protein peptidyl-prolyl isomerization (GO:0000413) | 2.44834593 |
| 138 | regulation of ligase activity (GO:0051340) | 2.44832976 |
| 139 | peptidyl-proline modification (GO:0018208) | 2.43932468 |
| 140 | DNA unwinding involved in DNA replication (GO:0006268) | 2.43673476 |
| 141 | hyaluronan catabolic process (GO:0030214) | 2.42749227 |
| 142 | positive regulation of receptor biosynthetic process (GO:0010870) | 2.42497322 |
| 143 | L-serine metabolic process (GO:0006563) | 2.40161656 |
| 144 | ribosome biogenesis (GO:0042254) | 2.39725737 |
| 145 | protein folding (GO:0006457) | 2.39692600 |
| 146 | proline metabolic process (GO:0006560) | 2.39257087 |
| 147 | basement membrane organization (GO:0071711) | 2.39224108 |
| 148 | keratan sulfate catabolic process (GO:0042340) | 2.38946972 |
| 149 | antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590) | 2.38900269 |
| 150 | nucleobase biosynthetic process (GO:0046112) | 2.37899292 |
| 151 | regulation of translational fidelity (GO:0006450) | 2.37800437 |
| 152 | fucose metabolic process (GO:0006004) | 2.36167131 |
| 153 | tetrahydrofolate metabolic process (GO:0046653) | 2.35732801 |
| 154 | COPI coating of Golgi vesicle (GO:0048205) | 10.8882897 |
| 155 | Golgi transport vesicle coating (GO:0048200) | 10.8882897 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | E2F7_22180533_ChIP-Seq_HELA_Human | 4.01525591 |
| 2 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 3.92860316 |
| 3 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 3.61276665 |
| 4 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 3.13005892 |
| 5 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 2.75699743 |
| 6 | * GABP_17652178_ChIP-ChIP_JURKAT_Human | 2.68354317 |
| 7 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 2.67764847 |
| 8 | * JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 2.46746729 |
| 9 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 2.44678877 |
| 10 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 2.27702612 |
| 11 | * MYC_18358816_ChIP-ChIP_MESCs_Mouse | 2.26174275 |
| 12 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 2.24277790 |
| 13 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 2.18756965 |
| 14 | ZNF263_19887448_ChIP-Seq_K562_Human | 2.11293248 |
| 15 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 2.11143305 |
| 16 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 2.07820985 |
| 17 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 2.04479864 |
| 18 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 2.03527920 |
| 19 | MYC_22102868_ChIP-Seq_BL_Human | 2.03337567 |
| 20 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 2.03151348 |
| 21 | TAL1_20887958_ChIP-Seq_HPC-7_Mouse | 2.02868511 |
| 22 | * ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.95852530 |
| 23 | XRN2_22483619_ChIP-Seq_HELA_Human | 1.95506009 |
| 24 | SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse | 1.94547271 |
| 25 | * E2F1_18555785_ChIP-Seq_MESCs_Mouse | 1.91381578 |
| 26 | * NELFA_20434984_ChIP-Seq_ESCs_Mouse | 1.90643269 |
| 27 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 1.89681261 |
| 28 | * GABP_19822575_ChIP-Seq_HepG2_Human | 1.86290698 |
| 29 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.84917583 |
| 30 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 1.82433290 |
| 31 | GATA1_22025678_ChIP-Seq_K562_Human | 1.77360012 |
| 32 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 1.76920101 |
| 33 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 1.76831565 |
| 34 | TFEB_21752829_ChIP-Seq_HELA_Human | 1.75860311 |
| 35 | SFPI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.71228158 |
| 36 | * ERG_20887958_ChIP-Seq_HPC-7_Mouse | 1.70696883 |
| 37 | VDR_23849224_ChIP-Seq_CD4+_Human | 1.69630666 |
| 38 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 1.67666962 |
| 39 | VDR_21846776_ChIP-Seq_THP-1_Human | 1.65226632 |
| 40 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.64377645 |
| 41 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 1.61329396 |
| 42 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 1.60672560 |
| 43 | FOXP3_21729870_ChIP-Seq_TREG_Human | 1.58200681 |
| 44 | FLI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.55338155 |
| 45 | CIITA_25753668_ChIP-Seq_RAJI_Human | 1.53345738 |
| 46 | * ELK3_25401928_ChIP-Seq_HUVEC_Human | 1.53313100 |
| 47 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.46349725 |
| 48 | FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 1.44717788 |
| 49 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.43942814 |
| 50 | CLOCK_20551151_ChIP-Seq_293T_Human | 1.43644474 |
| 51 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 1.43628043 |
| 52 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.40435548 |
| 53 | KLF4_18358816_ChIP-ChIP_MESCs_Mouse | 1.40334689 |
| 54 | ZFP281_18358816_ChIP-ChIP_MESCs_Mouse | 1.39753648 |
| 55 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 1.38816132 |
| 56 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 1.37717269 |
| 57 | NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human | 1.34539355 |
| 58 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.34494354 |
| 59 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 1.33104704 |
| 60 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.31214920 |
| 61 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 1.30963403 |
| 62 | CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat | 1.30462978 |
| 63 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 1.29940569 |
| 64 | * KDM5A_27292631_Chip-Seq_BREAST_Human | 1.29074040 |
| 65 | * RACK7_27058665_Chip-Seq_MCF-7_Human | 1.27916545 |
| 66 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 1.27335141 |
| 67 | HOXB4_20404135_ChIP-ChIP_EML_Mouse | 1.25398770 |
| 68 | CEBPB_24764292_ChIP-Seq_MC3T3_Mouse | 1.25227154 |
| 69 | DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 1.24976639 |
| 70 | SRF_21415370_ChIP-Seq_HL-1_Mouse | 1.24606140 |
| 71 | ASXL1_24218140_ChIP-Seq_BMDM_Mouse | 1.24254762 |
| 72 | * GFI1B_20887958_ChIP-Seq_HPC-7_Mouse | 1.23754608 |
| 73 | RUNX1_20887958_ChIP-Seq_HPC-7_Mouse | 1.23690231 |
| 74 | ELK1_19687146_ChIP-ChIP_HELA_Human | 1.22311003 |
| 75 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.19784972 |
| 76 | CNOT3_19339689_ChIP-ChIP_MESCs_Mouse | 1.15795992 |
| 77 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.15321776 |
| 78 | CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 1.15181635 |
| 79 | * GATA1_22383799_ChIP-Seq_G1ME_Mouse | 1.15071915 |
| 80 | CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.14274190 |
| 81 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 1.13817841 |
| 82 | * SPI1_23547873_ChIP-Seq_NB4_Human | 1.13375810 |
| 83 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.12861252 |
| 84 | * SREBP1_19666523_ChIP-Seq_LIVER_Mouse | 1.12492112 |
| 85 | STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse | 1.10811769 |
| 86 | * E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human | 1.10746689 |
| 87 | * KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.10409482 |
| 88 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 1.10220350 |
| 89 | ATF3_27146783_Chip-Seq_COLON_Human | 1.10099723 |
| 90 | MECOM_23826213_ChIP-Seq_KASUMI_Mouse | 1.08927864 |
| 91 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 1.08292926 |
| 92 | MYB_21317192_ChIP-Seq_ERMYB_Mouse | 1.08158750 |
| 93 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 1.08131399 |
| 94 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 1.08111660 |
| 95 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.07243829 |
| 96 | * KLF4_18555785_ChIP-Seq_MESCs_Mouse | 1.07152682 |
| 97 | PRDM5_23873026_ChIP-Seq_MEFs_Mouse | 1.07003995 |
| 98 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 1.06546804 |
| 99 | * ELK1_22589737_ChIP-Seq_MCF10A_Human | 1.04605685 |
| 100 | TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 1.04604357 |
| 101 | SPI1_22096565_ChIP-ChIP_GC-B_Mouse | 1.03525469 |
| 102 | ESR1_15608294_ChIP-ChIP_MCF-7_Human | 1.02905656 |
| 103 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 1.02529181 |
| 104 | NR0B1_18358816_ChIP-ChIP_MESCs_Mouse | 1.02007941 |
| 105 | CTCF_18555785_ChIP-Seq_MESCs_Mouse | 1.01812256 |
| 106 | HNF4A_19761587_ChIP-ChIP_CACO-2_Human | 1.01379403 |
| 107 | RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 1.01210588 |
| 108 | YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.00969506 |
| 109 | VDR_24763502_ChIP-Seq_THP-1_Human | 1.00796272 |
| 110 | * HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 1.00633635 |
| 111 | * TBX5_21415370_ChIP-Seq_HL-1_Mouse | 0.99963169 |
| 112 | LXR_22292898_ChIP-Seq_THP-1_Human | 0.99616644 |
| 113 | ATF3_23680149_ChIP-Seq_GBM1-GSC_Human | 0.99124103 |
| 114 | MEIS1_20887958_ChIP-Seq_HPC-7_Mouse | 0.98666233 |
| 115 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 0.98373870 |
| 116 | * OCT4_18692474_ChIP-Seq_MEFs_Mouse | 0.97745350 |
| 117 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 0.97724626 |
| 118 | * NANOG_18555785_ChIP-Seq_MESCs_Mouse | 0.96775930 |
| 119 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 0.96736855 |
| 120 | * BCL3_23251550_ChIP-Seq_MUSCLE_Mouse | 0.96283210 |
| 121 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 0.96056084 |
| 122 | * CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 0.95925411 |
| 123 | SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 0.95049629 |
| 124 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 0.94333457 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0002877_abnormal_melanocyte_morpholog | 3.70579399 |
| 2 | MP0006054_spinal_hemorrhage | 3.60758965 |
| 3 | MP0003283_abnormal_digestive_organ | 3.47873830 |
| 4 | MP0005220_abnormal_exocrine_pancreas | 3.14737670 |
| 5 | MP0003183_abnormal_peptide_metabolism | 2.78046386 |
| 6 | MP0001944_abnormal_pancreas_morphology | 2.71553215 |
| 7 | MP0003693_abnormal_embryo_hatching | 2.64565212 |
| 8 | MP0002693_abnormal_pancreas_physiology | 2.63880926 |
| 9 | MP0000013_abnormal_adipose_tissue | 2.57567326 |
| 10 | MP0010030_abnormal_orbit_morphology | 2.51567684 |
| 11 | MP0000678_abnormal_parathyroid_gland | 2.40793201 |
| 12 | MP0008438_abnormal_cutaneous_collagen | 2.39482955 |
| 13 | MP0003195_calcinosis | 2.36728844 |
| 14 | MP0004264_abnormal_extraembryonic_tissu | 2.24214333 |
| 15 | MP0002909_abnormal_adrenal_gland | 2.20290628 |
| 16 | MP0005058_abnormal_lysosome_morphology | 2.17745740 |
| 17 | MP0005451_abnormal_body_composition | 2.12732691 |
| 18 | MP0003300_gastrointestinal_ulcer | 2.04483524 |
| 19 | MP0004043_abnormal_pH_regulation | 1.98477961 |
| 20 | MP0003123_paternal_imprinting | 1.93092172 |
| 21 | MP0004957_abnormal_blastocyst_morpholog | 1.92707602 |
| 22 | MP0003172_abnormal_lysosome_physiology | 1.83032616 |
| 23 | MP0008260_abnormal_autophagy | 1.82781151 |
| 24 | MP0001849_ear_inflammation | 1.75996812 |
| 25 | MP0003941_abnormal_skin_development | 1.72243375 |
| 26 | MP0003191_abnormal_cellular_cholesterol | 1.61849191 |
| 27 | MP0005379_endocrine/exocrine_gland_phen | 1.61120120 |
| 28 | MP0010352_gastrointestinal_tract_polyps | 1.56299089 |
| 29 | MP0010234_abnormal_vibrissa_follicle | 1.49496290 |
| 30 | MP0009643_abnormal_urine_homeostasis | 1.48215398 |
| 31 | MP0000003_abnormal_adipose_tissue | 1.48078791 |
| 32 | MP0010386_abnormal_urinary_bladder | 1.44248078 |
| 33 | MP0009780_abnormal_chondrocyte_physiolo | 1.43260310 |
| 34 | MP0005501_abnormal_skin_physiology | 1.42679329 |
| 35 | MP0004233_abnormal_muscle_weight | 1.39347087 |
| 36 | MP0003566_abnormal_cell_adhesion | 1.38864705 |
| 37 | MP0000613_abnormal_salivary_gland | 1.35911303 |
| 38 | MP0000462_abnormal_digestive_system | 1.35865124 |
| 39 | MP0001661_extended_life_span | 1.34763725 |
| 40 | MP0002896_abnormal_bone_mineralization | 1.31485889 |
| 41 | MP0004858_abnormal_nervous_system | 1.30516646 |
| 42 | MP0001853_heart_inflammation | 1.26687044 |
| 43 | MP0000490_abnormal_crypts_of | 1.25350591 |
| 44 | MP0002078_abnormal_glucose_homeostasis | 1.24628313 |
| 45 | MP0002928_abnormal_bile_duct | 1.24486249 |
| 46 | MP0003786_premature_aging | 1.22885200 |
| 47 | MP0009697_abnormal_copulation | 1.22810531 |
| 48 | MP0003122_maternal_imprinting | 1.22402001 |
| 49 | MP0002796_impaired_skin_barrier | 1.21824543 |
| 50 | MP0003866_abnormal_defecation | 1.20368449 |
| 51 | MP0004782_abnormal_surfactant_physiolog | 1.19294499 |
| 52 | MP0001666_abnormal_nutrient_absorption | 1.17819629 |
| 53 | MP0003705_abnormal_hypodermis_morpholog | 1.17132590 |
| 54 | MP0005623_abnormal_meninges_morphology | 1.16536797 |
| 55 | MP0008007_abnormal_cellular_replicative | 1.15919227 |
| 56 | MP0009840_abnormal_foam_cell | 1.11185337 |
| 57 | MP0005380_embryogenesis_phenotype | 1.08922021 |
| 58 | MP0001672_abnormal_embryogenesis/_devel | 1.08922021 |
| 59 | MP0004272_abnormal_basement_membrane | 1.08716146 |
| 60 | MP0010368_abnormal_lymphatic_system | 1.08161586 |
| 61 | MP0005076_abnormal_cell_differentiation | 1.07705090 |
| 62 | MP0005165_increased_susceptibility_to | 1.07313592 |
| 63 | MP0005360_urolithiasis | 1.06739890 |
| 64 | MP0003077_abnormal_cell_cycle | 1.05808183 |
| 65 | MP0001915_intracranial_hemorrhage | 1.04205100 |
| 66 | MP0001881_abnormal_mammary_gland | 1.03573141 |
| 67 | MP0005083_abnormal_biliary_tract | 1.03431382 |
| 68 | MP0003984_embryonic_growth_retardation | 1.03141265 |
| 69 | MP0003959_abnormal_lean_body | 1.01440511 |
| 70 | MP0005257_abnormal_intraocular_pressure | 1.00996087 |
| 71 | MP0001216_abnormal_epidermal_layer | 1.00928211 |
| 72 | MP0001765_abnormal_ion_homeostasis | 1.00396545 |
| 73 | MP0000858_altered_metastatic_potential | 1.00289968 |
| 74 | MP0001756_abnormal_urination | 0.99446208 |
| 75 | MP0003315_abnormal_perineum_morphology | 0.99117862 |
| 76 | MP0003795_abnormal_bone_structure | 0.98224611 |
| 77 | MP0005330_cardiomyopathy | 0.97763233 |
| 78 | MP0005636_abnormal_mineral_homeostasis | 0.97620010 |
| 79 | MP0001730_embryonic_growth_arrest | 0.97492914 |
| 80 | MP0005197_abnormal_uvea_morphology | 0.95768333 |
| 81 | MP0002088_abnormal_embryonic_growth/wei | 0.95746411 |
| 82 | MP0000762_abnormal_tongue_morphology | 0.95070275 |
| 83 | MP0000358_abnormal_cell_content/ | 0.94797349 |
| 84 | MP0003385_abnormal_body_wall | 0.94415684 |
| 85 | MP0001542_abnormal_bone_strength | 0.92974567 |
| 86 | MP0003453_abnormal_keratinocyte_physiol | 0.90590979 |
| 87 | MP0005023_abnormal_wound_healing | 0.89943055 |
| 88 | MP0003806_abnormal_nucleotide_metabolis | 0.89500464 |
| 89 | MP0002085_abnormal_embryonic_tissue | 0.89482457 |
| 90 | MP0002086_abnormal_extraembryonic_tissu | 0.89443492 |
| 91 | MP0002933_joint_inflammation | 0.87300278 |
| 92 | MP0009333_abnormal_splenocyte_physiolog | 0.87152649 |
| 93 | MP0008058_abnormal_DNA_repair | 0.86958686 |
| 94 | MP0003111_abnormal_nucleus_morphology | 0.86358265 |
| 95 | MP0000467_abnormal_esophagus_morphology | 0.86212622 |
| 96 | MP0001533_abnormal_skeleton_physiology | 0.85743418 |
| 97 | MP0005275_abnormal_skin_tensile | 0.85643746 |
| 98 | MP0002396_abnormal_hematopoietic_system | 0.84976896 |
| 99 | MP0009053_abnormal_anal_canal | 0.84669462 |
| 100 | MP0002080_prenatal_lethality | 0.83445490 |
| 101 | MP0005621_abnormal_cell_physiology | 0.83201531 |
| 102 | MP0003119_abnormal_digestive_system | 0.81897429 |
| 103 | MP0005408_hypopigmentation | 0.81840422 |
| 104 | MP0005365_abnormal_bile_salt | 0.81480956 |
| 105 | MP0000681_abnormal_thyroid_gland | 0.81459445 |
| 106 | MP0010307_abnormal_tumor_latency | 0.81291400 |
| 107 | MP0000627_abnormal_mammary_gland | 0.81108759 |
| 108 | MP0009384_cardiac_valve_regurgitation | 0.79789079 |
| 109 | MP0005084_abnormal_gallbladder_morpholo | 0.79706857 |
| 110 | MP0000343_altered_response_to | 0.79524352 |
| 111 | MP0009672_abnormal_birth_weight | 0.77757042 |
| 112 | MP0002089_abnormal_postnatal_growth/wei | 0.77423580 |
| 113 | MP0006035_abnormal_mitochondrial_morpho | 0.76522219 |
| 114 | MP0002084_abnormal_developmental_patter | 0.74283321 |
| 115 | MP0000477_abnormal_intestine_morphology | 0.73660719 |
| 116 | MP0000751_myopathy | 0.73388803 |
| 117 | MP0009931_abnormal_skin_appearance | 0.73111502 |
| 118 | MP0002098_abnormal_vibrissa_morphology | 0.73072817 |
| 119 | MP0005193_abnormal_anterior_eye | 0.73040491 |
| 120 | MP0000598_abnormal_liver_morphology | 0.72779700 |
| 121 | MP0003448_altered_tumor_morphology | 0.72537458 |
| 122 | MP0000537_abnormal_urethra_morphology | 0.72164258 |
| 123 | MP0008932_abnormal_embryonic_tissue | 0.72129117 |
| 124 | MP0001270_distended_abdomen | 0.71952831 |
| 125 | MP0003186_abnormal_redox_activity | 0.71543842 |
| 126 | MP0000350_abnormal_cell_proliferation | 0.71238322 |
| 127 | MP0003868_abnormal_feces_composition | 0.70578330 |
| 128 | MP0001697_abnormal_embryo_size | 0.70406086 |
| 129 | MP0010771_integument_phenotype | 0.70346295 |
| 130 | MP0003436_decreased_susceptibility_to | 0.69467809 |
| 131 | MP0001727_abnormal_embryo_implantation | 0.66920453 |
| 132 | MP0002234_abnormal_pharynx_morphology | 0.66738488 |
| 133 | MP0003953_abnormal_hormone_level | 0.66352759 |
| 134 | MP0002166_altered_tumor_susceptibility | 0.66150986 |
| 135 | MP0002295_abnormal_pulmonary_circulatio | 0.66093583 |
| 136 | MP0004808_abnormal_hematopoietic_stem | 0.65924441 |
| 137 | MP0005503_abnormal_tendon_morphology | 0.65895404 |
| 138 | MP0002111_abnormal_tail_morphology | 0.65868557 |
| 139 | MP0001845_abnormal_inflammatory_respons | 0.65851500 |
| 140 | MP0001243_abnormal_dermal_layer | 0.65281063 |
| 141 | MP0000163_abnormal_cartilage_morphology | 0.64961301 |
| 142 | MP0000465_gastrointestinal_hemorrhage | 0.64313957 |
| 143 | MP0010094_abnormal_chromosome_stability | 0.63551944 |
| 144 | MP0000639_abnormal_adrenal_gland | 0.62800951 |
| 145 | MP0000313_abnormal_cell_death | 0.62224603 |
| 146 | MP0005390_skeleton_phenotype | 0.61566954 |
| 147 | MP0002970_abnormal_white_adipose | 0.59940173 |
| 148 | MP0005384_cellular_phenotype | 0.59922187 |
| 149 | MP0003279_aneurysm | 0.59174110 |
| 150 | MP0005508_abnormal_skeleton_morphology | 0.58955542 |
| 151 | MP0004197_abnormal_fetal_growth/weight/ | 0.58869394 |
| 152 | MP0002019_abnormal_tumor_incidence | 0.58759553 |
| 153 | MP0002135_abnormal_kidney_morphology | 0.58523625 |
| 154 | MP0002060_abnormal_skin_morphology | 0.58309825 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Hypoglycemic coma (HP:0001325) | 5.22021534 |
| 2 | Hyperinsulinemic hypoglycemia (HP:0000825) | 5.07439373 |
| 3 | Hypoglycemic seizures (HP:0002173) | 4.92342520 |
| 4 | Symptomatic seizures (HP:0011145) | 4.22719691 |
| 5 | Elevated circulating parathyroid hormone (PTH) level (HP:0003165) | 4.10239280 |
| 6 | Urinary glycosaminoglycan excretion (HP:0003541) | 4.04409977 |
| 7 | Mucopolysacchariduria (HP:0008155) | 4.04409977 |
| 8 | Dysostosis multiplex (HP:0000943) | 3.98690609 |
| 9 | Abnormality of endocrine pancreas physiology (HP:0012093) | 3.79988209 |
| 10 | Abnormality of the pancreatic islet cells (HP:0006476) | 3.79988209 |
| 11 | Late onset (HP:0003584) | 3.73426660 |
| 12 | Abnormality of polysaccharide metabolism (HP:0011012) | 3.57608338 |
| 13 | Abnormality of glycosaminoglycan metabolism (HP:0004371) | 3.57608338 |
| 14 | Abnormality of mucopolysaccharide metabolism (HP:0011020) | 3.57608338 |
| 15 | Vacuolated lymphocytes (HP:0001922) | 3.42956929 |
| 16 | Abnormal gallbladder physiology (HP:0012438) | 3.31967447 |
| 17 | Cholecystitis (HP:0001082) | 3.31967447 |
| 18 | 11 pairs of ribs (HP:0000878) | 3.26044587 |
| 19 | Generalized aminoaciduria (HP:0002909) | 3.22912010 |
| 20 | Cervical subluxation (HP:0003308) | 3.17023392 |
| 21 | Pancreatic islet-cell hyperplasia (HP:0004510) | 3.14622233 |
| 22 | Ketoacidosis (HP:0001993) | 3.10215855 |
| 23 | Microvesicular hepatic steatosis (HP:0001414) | 3.09331907 |
| 24 | Abnormality of the intrinsic pathway (HP:0010989) | 3.07972063 |
| 25 | Thoracolumbar scoliosis (HP:0002944) | 3.01149146 |
| 26 | Trismus (HP:0000211) | 2.95515696 |
| 27 | Abnormal pancreas size (HP:0012094) | 2.88047174 |
| 28 | Large for gestational age (HP:0001520) | 2.87438598 |
| 29 | Beaking of vertebral bodies (HP:0004568) | 2.82005192 |
| 30 | Thrombocytosis (HP:0001894) | 2.81454186 |
| 31 | Missing ribs (HP:0000921) | 2.78842477 |
| 32 | Hyperglycemia (HP:0003074) | 2.78769273 |
| 33 | Short nail (HP:0001799) | 2.77811672 |
| 34 | Abnormality of dentin (HP:0010299) | 2.75808326 |
| 35 | Hyperparathyroidism (HP:0000843) | 2.66970644 |
| 36 | Insulin resistance (HP:0000855) | 2.62562382 |
| 37 | Abnormality of glycolysis (HP:0004366) | 2.56678259 |
| 38 | Protrusio acetabuli (HP:0003179) | 2.55611401 |
| 39 | Aplastic anemia (HP:0001915) | 2.55070489 |
| 40 | Rough bone trabeculation (HP:0100670) | 2.53869988 |
| 41 | Abnormality of calcium-phosphate metabolism (HP:0100530) | 2.52861708 |
| 42 | Degeneration of anterior horn cells (HP:0002398) | 2.49455495 |
| 43 | Abnormality of the anterior horn cell (HP:0006802) | 2.49455495 |
| 44 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.46123119 |
| 45 | Progressive neurologic deterioration (HP:0002344) | 2.38357774 |
| 46 | Reduced antithrombin III activity (HP:0001976) | 2.36513156 |
| 47 | Selective tooth agenesis (HP:0001592) | 2.31495912 |
| 48 | Joint stiffness (HP:0001387) | 2.27881136 |
| 49 | Atrophic scars (HP:0001075) | 2.26413994 |
| 50 | Osteolytic defects of the phalanges of the hand (HP:0009771) | 2.26322612 |
| 51 | Osteolytic defects of the hand bones (HP:0009699) | 2.26322612 |
| 52 | Abnormality of the umbilical cord (HP:0010881) | 2.23389274 |
| 53 | Increased serum pyruvate (HP:0003542) | 2.22248181 |
| 54 | * Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 2.22101628 |
| 55 | * Abnormal protein N-linked glycosylation (HP:0012347) | 2.22101628 |
| 56 | * Abnormal protein glycosylation (HP:0012346) | 2.22101628 |
| 57 | * Abnormal glycosylation (HP:0012345) | 2.22101628 |
| 58 | Poor head control (HP:0002421) | 2.21143851 |
| 59 | Severe short stature (HP:0003510) | 2.20441226 |
| 60 | Fragile skin (HP:0001030) | 2.18660034 |
| 61 | Abdominal distention (HP:0003270) | 2.16879548 |
| 62 | Achilles tendon contracture (HP:0001771) | 2.16484279 |
| 63 | Hand muscle atrophy (HP:0009130) | 2.13422357 |
| 64 | Ragged-red muscle fibers (HP:0003200) | 2.13020775 |
| 65 | Premature skin wrinkling (HP:0100678) | 2.11643141 |
| 66 | Abnormal number of erythroid precursors (HP:0012131) | 2.10165150 |
| 67 | Breech presentation (HP:0001623) | 2.09431468 |
| 68 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 2.09411538 |
| 69 | Hypokinesia (HP:0002375) | 2.08460773 |
| 70 | Abnormal delivery (HP:0001787) | 2.08454479 |
| 71 | Entropion (HP:0000621) | 2.07016148 |
| 72 | Progressive muscle weakness (HP:0003323) | 2.06792394 |
| 73 | Blue sclerae (HP:0000592) | 2.06741502 |
| 74 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 2.06310291 |
| 75 | Unilateral renal agenesis (HP:0000122) | 2.05549301 |
| 76 | Ulnar bowing (HP:0003031) | 2.04065900 |
| 77 | Biconcave vertebral bodies (HP:0004586) | 2.02207908 |
| 78 | Orthostatic hypotension (HP:0001278) | 1.99759677 |
| 79 | Abnormality of aromatic amino acid family metabolism (HP:0004338) | 1.99042031 |
| 80 | Abnormality of cells of the erythroid lineage (HP:0012130) | 1.97702877 |
| 81 | Elbow flexion contracture (HP:0002987) | 1.97303544 |
| 82 | Platyspondyly (HP:0000926) | 1.97003425 |
| 83 | Wormian bones (HP:0002645) | 1.96878257 |
| 84 | Nonimmune hydrops fetalis (HP:0001790) | 1.96309844 |
| 85 | Upper limb amyotrophy (HP:0009129) | 1.96251458 |
| 86 | Distal upper limb amyotrophy (HP:0007149) | 1.96251458 |
| 87 | Abnormality of the Achilles tendon (HP:0005109) | 1.95485223 |
| 88 | Broad face (HP:0000283) | 1.95211702 |
| 89 | Abnormality of carpal bone ossification (HP:0006257) | 1.95016646 |
| 90 | Abnormal trabecular bone morphology (HP:0100671) | 1.94406069 |
| 91 | Abnormality of the distal phalanges of the toes (HP:0010182) | 1.93791188 |
| 92 | Sparse eyelashes (HP:0000653) | 1.93645155 |
| 93 | Ketosis (HP:0001946) | 1.92525258 |
| 94 | Abnormality of the common coagulation pathway (HP:0010990) | 1.92456705 |
| 95 | Spinal rigidity (HP:0003306) | 1.92195427 |
| 96 | Generalized amyotrophy (HP:0003700) | 1.91141811 |
| 97 | Retinal atrophy (HP:0001105) | 1.90265405 |
| 98 | Microretrognathia (HP:0000308) | 1.89985933 |
| 99 | Increased neuronal autofluorescent lipopigment (HP:0002074) | 1.89604196 |
| 100 | Delayed cranial suture closure (HP:0000270) | 1.88377344 |
| 101 | Increased cerebral lipofuscin (HP:0011813) | 1.88310304 |
| 102 | Microglossia (HP:0000171) | 1.87955348 |
| 103 | Abnormalities of placenta or umbilical cord (HP:0001194) | 1.87939874 |
| 104 | Hypoplasia of the pons (HP:0012110) | 1.87248698 |
| 105 | Aortic dissection (HP:0002647) | 1.86820920 |
| 106 | Abnormality of the calcaneus (HP:0008364) | 1.86221119 |
| 107 | Vertebral compression fractures (HP:0002953) | 1.86177130 |
| 108 | Bladder diverticulum (HP:0000015) | 1.85733309 |
| 109 | Prominent metopic ridge (HP:0005487) | 1.84672411 |
| 110 | Abnormality of T cell physiology (HP:0011840) | 1.83375101 |
| 111 | Exocrine pancreatic insufficiency (HP:0001738) | 1.80581630 |
| 112 | Cerebral aneurysm (HP:0004944) | 1.79811592 |
| 113 | Premature rupture of membranes (HP:0001788) | 1.79783557 |
| 114 | Abnormality of oral frenula (HP:0000190) | 1.79186162 |
| 115 | Slender long bone (HP:0003100) | 1.78986967 |
| 116 | Hyperacusis (HP:0010780) | 1.78969453 |
| 117 | Hepatosplenomegaly (HP:0001433) | 1.78328240 |
| 118 | Back pain (HP:0003418) | 1.78215838 |
| 119 | Testicular atrophy (HP:0000029) | 1.78210454 |
| 120 | Disproportionate short-trunk short stature (HP:0003521) | 1.75178141 |
| 121 | Metaphyseal cupping (HP:0003021) | 1.75141856 |
| 122 | Deep venous thrombosis (HP:0002625) | 1.75091287 |
| 123 | Abnormality of glycosphingolipid metabolism (HP:0004343) | 1.74973984 |
| 124 | Abnormality of glycolipid metabolism (HP:0010969) | 1.74973984 |
| 125 | Abnormality of liposaccharide metabolism (HP:0010968) | 1.74973984 |
| 126 | Multiple enchondromatosis (HP:0005701) | 1.73660496 |
| 127 | Thin bony cortex (HP:0002753) | 1.72898112 |
| 128 | Abnormality of the fetal cardiovascular system (HP:0010948) | 1.72657575 |
| 129 | Abnormal umbilical cord blood vessels (HP:0011403) | 1.72657575 |
| 130 | Single umbilical artery (HP:0001195) | 1.72657575 |
| 131 | Natal tooth (HP:0000695) | 1.72646681 |
| 132 | Deviation of the thumb (HP:0009603) | 1.72024989 |
| 133 | Congenital glaucoma (HP:0001087) | 1.71891042 |
| 134 | Hypoplasia of the odontoid process (HP:0003311) | 1.71569380 |
| 135 | Spastic diplegia (HP:0001264) | 1.70614922 |
| 136 | Reticulocytopenia (HP:0001896) | 1.70468426 |
| 137 | Pterygium (HP:0001059) | 1.70374609 |
| 138 | J-shaped sella turcica (HP:0002680) | 1.68281429 |
| 139 | Flattened epiphyses (HP:0003071) | 1.68266952 |
| 140 | Decreased circulating renin level (HP:0003351) | 1.67045659 |
| 141 | Hypokalemia (HP:0002900) | 1.66762122 |
| 142 | Death in infancy (HP:0001522) | 1.66609285 |
| 143 | Dysautonomia (HP:0002459) | 1.66331091 |
| 144 | Hypertensive crisis (HP:0100735) | 1.65799870 |
| 145 | Fasciculations (HP:0002380) | 1.65536755 |
| 146 | Hyperphosphatemia (HP:0002905) | 1.65277511 |
| 147 | Small epiphyses (HP:0010585) | 1.65023932 |
| 148 | Flat acetabular roof (HP:0003180) | 1.64755094 |
| 149 | Pili torti (HP:0003777) | 1.64511065 |
| 150 | Ulnar deviation of the wrist (HP:0003049) | 1.63655797 |
| 151 | Hypercortisolism (HP:0001578) | 1.62975583 |
| 152 | Onycholysis (HP:0001806) | 1.62301290 |
| 153 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.62283714 |
| 154 | Absent epiphyses (HP:0010577) | 1.62283714 |
| 155 | Abnormality of the acetabulum (HP:0003170) | 1.61727463 |
| 156 | Abnormality of subcutaneous fat tissue (HP:0001001) | 1.61684264 |
| 157 | Abnormal ossification of hand bones (HP:0005921) | 1.61328223 |
| 158 | Vertebral hypoplasia (HP:0008417) | 1.61036339 |
| 159 | Aplasia/Hypoplasia of the vertebrae (HP:0008515) | 1.61036339 |
| 160 | Proximal placement of thumb (HP:0009623) | 1.60996775 |
| 161 | Ankle contracture (HP:0006466) | 1.60778611 |
| 162 | Irregular vertebral endplates (HP:0003301) | 1.59483602 |
| 163 | Abnormality of the pons (HP:0007361) | 1.58927470 |
| 164 | Protuberant abdomen (HP:0001538) | 1.58743146 |
| 165 | Abnormality of alkaline phosphatase activity (HP:0004379) | 1.58182929 |
| 166 | Elevated alkaline phosphatase (HP:0003155) | 1.57883065 |
| 167 | * Type I transferrin isoform profile (HP:0003642) | 1.56559482 |
| 168 | Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204) | 1.55944692 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PASK | 4.88268698 |
| 2 | ERN1 | 4.27434349 |
| 3 | VRK2 | 3.36830582 |
| 4 | FLT3 | 3.18407240 |
| 5 | MAPK15 | 2.93421492 |
| 6 | SCYL2 | 2.86706029 |
| 7 | INSRR | 2.72389542 |
| 8 | SMG1 | 2.70210225 |
| 9 | TRIB3 | 2.67136582 |
| 10 | BCKDK | 2.62236863 |
| 11 | EIF2AK3 | 2.49577413 |
| 12 | TAOK3 | 2.17897956 |
| 13 | PKN2 | 2.14305398 |
| 14 | TESK1 | 2.08275372 |
| 15 | SRPK1 | 2.06831914 |
| 16 | BUB1 | 2.06777927 |
| 17 | PBK | 2.06121551 |
| 18 | MST1R | 2.05955123 |
| 19 | BRSK2 | 1.97620928 |
| 20 | STK16 | 1.86250741 |
| 21 | TESK2 | 1.84465172 |
| 22 | HIPK2 | 1.62518290 |
| 23 | TTK | 1.58445824 |
| 24 | EEF2K | 1.56070211 |
| 25 | NME2 | 1.51565999 |
| 26 | WEE1 | 1.50635098 |
| 27 | KDR | 1.46511472 |
| 28 | MAP3K10 | 1.34520010 |
| 29 | PAK4 | 1.32318823 |
| 30 | EPHA2 | 1.31212572 |
| 31 | MAPKAPK3 | 1.27914251 |
| 32 | IRAK3 | 1.25438369 |
| 33 | ARAF | 1.21958799 |
| 34 | TIE1 | 1.21445096 |
| 35 | MAP2K2 | 1.21287663 |
| 36 | PTK6 | 1.19475247 |
| 37 | PDGFRA | 1.19473134 |
| 38 | PIM2 | 1.18682304 |
| 39 | ERBB4 | 1.18667904 |
| 40 | LMTK2 | 1.18508608 |
| 41 | LRRK2 | 1.16487292 |
| 42 | ZAP70 | 1.16307457 |
| 43 | RPS6KA4 | 1.14774886 |
| 44 | TGFBR1 | 1.11254265 |
| 45 | ICK | 1.10612303 |
| 46 | NEK2 | 1.09439829 |
| 47 | EPHB2 | 1.08412369 |
| 48 | EIF2AK1 | 1.03680567 |
| 49 | MAP3K3 | 1.01457024 |
| 50 | PDK2 | 1.00467229 |
| 51 | MAP3K2 | 1.00435792 |
| 52 | NME1 | 0.98845143 |
| 53 | PIK3CG | 0.98439367 |
| 54 | WNK4 | 0.97506808 |
| 55 | ACVR1B | 0.96651990 |
| 56 | BTK | 0.96607488 |
| 57 | SIK1 | 0.96539934 |
| 58 | PTK2 | 0.95508899 |
| 59 | BRSK1 | 0.94537008 |
| 60 | RPS6KB2 | 0.94459451 |
| 61 | CDC7 | 0.94348478 |
| 62 | JAK3 | 0.94030599 |
| 63 | VRK1 | 0.90936630 |
| 64 | DYRK3 | 0.87116164 |
| 65 | DYRK1B | 0.86304237 |
| 66 | CLK1 | 0.84418470 |
| 67 | TTN | 0.82765818 |
| 68 | TAOK2 | 0.82732074 |
| 69 | MET | 0.82660747 |
| 70 | TEC | 0.80648251 |
| 71 | DAPK1 | 0.79628712 |
| 72 | MAP3K12 | 0.78871096 |
| 73 | LIMK1 | 0.77702795 |
| 74 | FRK | 0.76768349 |
| 75 | MAP3K8 | 0.76744590 |
| 76 | CDK7 | 0.76254441 |
| 77 | MAP3K1 | 0.75622849 |
| 78 | EPHA3 | 0.73868005 |
| 79 | NEK9 | 0.73449206 |
| 80 | CAMKK2 | 0.72781867 |
| 81 | PRKD3 | 0.71264058 |
| 82 | ABL2 | 0.70845002 |
| 83 | WNK3 | 0.69994035 |
| 84 | TBK1 | 0.69154338 |
| 85 | PAK2 | 0.66238317 |
| 86 | PRKCI | 0.65741063 |
| 87 | MAP2K3 | 0.65509779 |
| 88 | AURKB | 0.65430704 |
| 89 | LATS2 | 0.64967446 |
| 90 | BLK | 0.64366033 |
| 91 | PRPF4B | 0.61139844 |
| 92 | CHEK2 | 0.60932947 |
| 93 | CDK9 | 0.60137324 |
| 94 | MAP3K11 | 0.58475444 |
| 95 | IRAK4 | 0.58458511 |
| 96 | TYK2 | 0.57651833 |
| 97 | MAP4K1 | 0.57432033 |
| 98 | DAPK3 | 0.57224643 |
| 99 | DDR2 | 0.56280692 |
| 100 | NTRK1 | 0.56217794 |
| 101 | ILK | 0.55460587 |
| 102 | STK4 | 0.53580621 |
| 103 | KIT | 0.53477670 |
| 104 | ATR | 0.51252437 |
| 105 | BRAF | 0.50728869 |
| 106 | STK10 | 0.50635443 |
| 107 | TLK1 | 0.50066499 |
| 108 | UHMK1 | 0.50026086 |
| 109 | IRAK1 | 0.49393754 |
| 110 | PLK3 | 0.48209931 |
| 111 | MTOR | 0.48053751 |
| 112 | PLK1 | 0.47924309 |
| 113 | EPHB1 | 0.47427667 |
| 114 | AURKA | 0.46989658 |
| 115 | ITK | 0.46925210 |
| 116 | TSSK6 | 0.46251341 |
| 117 | CDK6 | 0.46167980 |
| 118 | CHEK1 | 0.45788477 |
| 119 | BMX | 0.45075220 |
| 120 | MYLK | 0.43257915 |
| 121 | MAPK11 | 0.42002074 |
| 122 | AKT2 | 0.40760510 |
| 123 | MST4 | 0.40655178 |
| 124 | CSNK1G3 | 0.40246043 |
| 125 | FGFR4 | 0.40140923 |
| 126 | PAK1 | 0.39884519 |
| 127 | NEK1 | 0.39068744 |
| 128 | CDK12 | 0.39026564 |
| 129 | CDC42BPA | 0.38223877 |
| 130 | PRKG2 | 0.37383690 |
| 131 | RIPK1 | 0.35772649 |
| 132 | CSNK2A1 | 0.35175590 |
| 133 | MAPKAPK2 | 0.35008734 |
| 134 | CDK8 | 0.33578442 |
| 135 | CDK4 | 0.31555734 |
| 136 | NLK | 0.30077985 |
| 137 | TGFBR2 | 0.29642779 |
| 138 | JAK2 | 0.28400010 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Protein export_Homo sapiens_hsa03060 | 6.22699739 |
| 2 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 6.18691181 |
| 3 | * Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 4.00638517 |
| 4 | * N-Glycan biosynthesis_Homo sapiens_hsa00510 | 2.76974099 |
| 5 | DNA replication_Homo sapiens_hsa03030 | 2.65731141 |
| 6 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 2.46454151 |
| 7 | Other glycan degradation_Homo sapiens_hsa00511 | 2.40079089 |
| 8 | Sulfur metabolism_Homo sapiens_hsa00920 | 2.23919704 |
| 9 | Fatty acid elongation_Homo sapiens_hsa00062 | 2.21340227 |
| 10 | Selenocompound metabolism_Homo sapiens_hsa00450 | 2.15593275 |
| 11 | Mismatch repair_Homo sapiens_hsa03430 | 2.07412213 |
| 12 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 2.06219313 |
| 13 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 1.97626678 |
| 14 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 1.96066488 |
| 15 | Folate biosynthesis_Homo sapiens_hsa00790 | 1.92433153 |
| 16 | Ribosome_Homo sapiens_hsa03010 | 1.86540188 |
| 17 | Lysosome_Homo sapiens_hsa04142 | 1.68984770 |
| 18 | Proteasome_Homo sapiens_hsa03050 | 1.65440762 |
| 19 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 1.57137832 |
| 20 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.56215884 |
| 21 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 1.55175793 |
| 22 | Base excision repair_Homo sapiens_hsa03410 | 1.54757232 |
| 23 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.52389010 |
| 24 | Galactose metabolism_Homo sapiens_hsa00052 | 1.46854623 |
| 25 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 1.46751061 |
| 26 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 1.37704736 |
| 27 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 1.34334696 |
| 28 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 1.32577174 |
| 29 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.32389501 |
| 30 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 1.30105394 |
| 31 | Spliceosome_Homo sapiens_hsa03040 | 1.21145780 |
| 32 | Homologous recombination_Homo sapiens_hsa03440 | 1.19308221 |
| 33 | Steroid biosynthesis_Homo sapiens_hsa00100 | 1.07275218 |
| 34 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.06059201 |
| 35 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 1.04044587 |
| 36 | Legionellosis_Homo sapiens_hsa05134 | 1.03746389 |
| 37 | RNA transport_Homo sapiens_hsa03013 | 1.03048391 |
| 38 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.02823454 |
| 39 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.01322501 |
| 40 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 1.00514085 |
| 41 | Cell cycle_Homo sapiens_hsa04110 | 0.96532936 |
| 42 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.96254670 |
| 43 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 0.90323081 |
| 44 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.90304111 |
| 45 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.87494841 |
| 46 | RNA polymerase_Homo sapiens_hsa03020 | 0.84863391 |
| 47 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.84445533 |
| 48 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.83708019 |
| 49 | Parkinsons disease_Homo sapiens_hsa05012 | 0.82854097 |
| 50 | Shigellosis_Homo sapiens_hsa05131 | 0.80019794 |
| 51 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.79765553 |
| 52 | Thyroid cancer_Homo sapiens_hsa05216 | 0.76493088 |
| 53 | Bladder cancer_Homo sapiens_hsa05219 | 0.74396150 |
| 54 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.73865864 |
| 55 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.73699768 |
| 56 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.72037682 |
| 57 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.69121987 |
| 58 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.66889617 |
| 59 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.66532729 |
| 60 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.66195079 |
| 61 | Huntingtons disease_Homo sapiens_hsa05016 | 0.65778782 |
| 62 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.64934309 |
| 63 | Insulin secretion_Homo sapiens_hsa04911 | 0.64686225 |
| 64 | Sulfur relay system_Homo sapiens_hsa04122 | 0.62208512 |
| 65 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.62198190 |
| 66 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.57311423 |
| 67 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.56879858 |
| 68 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.56228416 |
| 69 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.55274772 |
| 70 | RNA degradation_Homo sapiens_hsa03018 | 0.53491039 |
| 71 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 0.53155023 |
| 72 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.52262572 |
| 73 | Purine metabolism_Homo sapiens_hsa00230 | 0.51951414 |
| 74 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.51150955 |
| 75 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.51099924 |
| 76 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.51010996 |
| 77 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.49223451 |
| 78 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.49135019 |
| 79 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.48408425 |
| 80 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.47017398 |
| 81 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.46949194 |
| 82 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.45293854 |
| 83 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.44787183 |
| 84 | Insulin resistance_Homo sapiens_hsa04931 | 0.44716283 |
| 85 | Alzheimers disease_Homo sapiens_hsa05010 | 0.44434695 |
| 86 | Prion diseases_Homo sapiens_hsa05020 | 0.44145751 |
| 87 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 0.42560896 |
| 88 | Carbon metabolism_Homo sapiens_hsa01200 | 0.42261794 |
| 89 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.39840649 |
| 90 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.39066936 |
| 91 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.38480025 |
| 92 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.38218896 |
| 93 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.38189496 |
| 94 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.38071836 |
| 95 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.38010270 |
| 96 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 0.36251266 |
| 97 | Focal adhesion_Homo sapiens_hsa04510 | 0.35125573 |
| 98 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.34813726 |
| 99 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.34442030 |
| 100 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.34314007 |
| 101 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.33937072 |
| 102 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.33865129 |
| 103 | Apoptosis_Homo sapiens_hsa04210 | 0.33374637 |
| 104 | HTLV-I infection_Homo sapiens_hsa05166 | 0.30816509 |
| 105 | * Metabolic pathways_Homo sapiens_hsa01100 | 0.29767742 |
| 106 | Small cell lung cancer_Homo sapiens_hsa05222 | 0.29261682 |
| 107 | Phagosome_Homo sapiens_hsa04145 | 0.28610762 |
| 108 | ABC transporters_Homo sapiens_hsa02010 | 0.28594333 |
| 109 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.28520129 |
| 110 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.26723248 |
| 111 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.26696184 |
| 112 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.26636960 |
| 113 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.26386827 |
| 114 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.26016637 |
| 115 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 0.25514353 |
| 116 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.25206844 |
| 117 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 0.25033321 |
| 118 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.24750499 |
| 119 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.24450061 |
| 120 | Alcoholism_Homo sapiens_hsa05034 | 0.23712420 |
| 121 | Adherens junction_Homo sapiens_hsa04520 | 0.23585956 |
| 122 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.22959949 |
| 123 | Lysine degradation_Homo sapiens_hsa00310 | 0.22378797 |
| 124 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.20603505 |
| 125 | Histidine metabolism_Homo sapiens_hsa00340 | 0.20319987 |
| 126 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.19989509 |
| 127 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.19704286 |
| 128 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.19374899 |
| 129 | Leishmaniasis_Homo sapiens_hsa05140 | 0.19095552 |
| 130 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 0.18831164 |
| 131 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.18593362 |

