

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | COPI coating of Golgi vesicle (GO:0048205) | 7.81164377 |
| 2 | Golgi transport vesicle coating (GO:0048200) | 7.81164377 |
| 3 | maintenance of protein localization in endoplasmic reticulum (GO:0035437) | 6.68835731 |
| 4 | protein retention in ER lumen (GO:0006621) | 5.95020368 |
| 5 | COPII vesicle coating (GO:0048208) | 5.21607646 |
| 6 | signal peptide processing (GO:0006465) | 5.19724530 |
| 7 | collagen fibril organization (GO:0030199) | 4.37251409 |
| 8 | activation of signaling protein activity involved in unfolded protein response (GO:0006987) | 4.13272762 |
| 9 | keratan sulfate catabolic process (GO:0042340) | 4.03958474 |
| 10 | positive regulation of nuclease activity (GO:0032075) | 4.00061588 |
| 11 | chondrocyte development (GO:0002063) | 3.95639726 |
| 12 | sequestering of metal ion (GO:0051238) | 3.89455957 |
| 13 | endoplasmic reticulum unfolded protein response (GO:0030968) | 3.84317695 |
| 14 | retrograde vesicle-mediated transport, Golgi to ER (GO:0006890) | 3.82685056 |
| 15 | hemidesmosome assembly (GO:0031581) | 3.79121725 |
| 16 | nuclear pore organization (GO:0006999) | 3.74120820 |
| 17 | cellular response to unfolded protein (GO:0034620) | 3.73641079 |
| 18 | regulation of nuclease activity (GO:0032069) | 3.71367620 |
| 19 | ribosome assembly (GO:0042255) | 3.67390570 |
| 20 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.63037953 |
| 21 | vesicle coating (GO:0006901) | 3.61261372 |
| 22 | ER-nucleus signaling pathway (GO:0006984) | 3.60474818 |
| 23 | chondrocyte proliferation (GO:0035988) | 3.53077849 |
| 24 | nucleobase-containing small molecule interconversion (GO:0015949) | 3.52530962 |
| 25 | cellular response to topologically incorrect protein (GO:0035967) | 3.45674330 |
| 26 | ER overload response (GO:0006983) | 3.43248275 |
| 27 | UDP-N-acetylglucosamine metabolic process (GO:0006047) | 3.40572467 |
| 28 | nucleotide-sugar biosynthetic process (GO:0009226) | 3.34061930 |
| 29 | membrane raft organization (GO:0031579) | 3.30343255 |
| 30 | regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714) | 3.24478603 |
| 31 | endothelial cell morphogenesis (GO:0001886) | 3.22872706 |
| 32 | peptidyl-proline hydroxylation (GO:0019511) | 3.21569288 |
| 33 | cell adhesion mediated by integrin (GO:0033627) | 3.19947190 |
| 34 | regulation of attachment of spindle microtubules to kinetochore (GO:0051988) | 3.17415315 |
| 35 | protein N-linked glycosylation via asparagine (GO:0018279) | 3.15149359 |
| 36 | mitotic metaphase plate congression (GO:0007080) | 3.14954729 |
| 37 | formation of translation preinitiation complex (GO:0001731) | 3.13241836 |
| 38 | peptidyl-asparagine modification (GO:0018196) | 3.12255802 |
| 39 | 4-hydroxyproline metabolic process (GO:0019471) | 3.10906576 |
| 40 | ventricular cardiac muscle cell development (GO:0055015) | 3.09827429 |
| 41 | proteasome assembly (GO:0043248) | 3.08282259 |
| 42 | regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091 | 3.08146766 |
| 43 | cellular response to vitamin D (GO:0071305) | 3.07218742 |
| 44 | exocrine pancreas development (GO:0031017) | 3.06278537 |
| 45 | regulation of metalloenzyme activity (GO:0048552) | 3.05094092 |
| 46 | response to endoplasmic reticulum stress (GO:0034976) | 3.02616231 |
| 47 | establishment of integrated proviral latency (GO:0075713) | 3.02412276 |
| 48 | pore complex assembly (GO:0046931) | 3.01865769 |
| 49 | endodermal cell differentiation (GO:0035987) | 2.99468356 |
| 50 | retina vasculature morphogenesis in camera-type eye (GO:0061299) | 2.96183922 |
| 51 | protein localization to chromosome, centromeric region (GO:0071459) | 2.93752344 |
| 52 | protein hydroxylation (GO:0018126) | 2.93502122 |
| 53 | protein N-linked glycosylation (GO:0006487) | 2.89574175 |
| 54 | response to unfolded protein (GO:0006986) | 2.85907122 |
| 55 | positive regulation of extracellular matrix organization (GO:1903055) | 2.85547034 |
| 56 | negative regulation of fatty acid transport (GO:2000192) | 2.85235013 |
| 57 | metaphase plate congression (GO:0051310) | 2.84586159 |
| 58 | establishment of chromosome localization (GO:0051303) | 2.83085341 |
| 59 | embryonic skeletal joint morphogenesis (GO:0060272) | 2.82452917 |
| 60 | peptide catabolic process (GO:0043171) | 2.81789820 |
| 61 | protein localization to kinetochore (GO:0034501) | 2.81174756 |
| 62 | type B pancreatic cell development (GO:0003323) | 2.80860936 |
| 63 | collagen metabolic process (GO:0032963) | 2.79740510 |
| 64 | regulation of translational fidelity (GO:0006450) | 2.79571052 |
| 65 | protein localization to endosome (GO:0036010) | 2.77176569 |
| 66 | cellular protein complex localization (GO:0034629) | 2.75677646 |
| 67 | apoptotic cell clearance (GO:0043277) | 2.74759166 |
| 68 | skin morphogenesis (GO:0043589) | 2.74626197 |
| 69 | regulation of vascular endothelial growth factor signaling pathway (GO:1900746) | 2.73787870 |
| 70 | ER-associated ubiquitin-dependent protein catabolic process (GO:0030433) | 2.73449586 |
| 71 | collagen catabolic process (GO:0030574) | 2.71909475 |
| 72 | cell-substrate junction assembly (GO:0007044) | 2.71571883 |
| 73 | substrate adhesion-dependent cell spreading (GO:0034446) | 2.70984838 |
| 74 | regulation of mitotic spindle organization (GO:0060236) | 2.70905338 |
| 75 | protein maturation by protein folding (GO:0022417) | 2.70597670 |
| 76 | mitotic sister chromatid segregation (GO:0000070) | 2.69975580 |
| 77 | ER to Golgi vesicle-mediated transport (GO:0006888) | 2.69971326 |
| 78 | regulation of translational termination (GO:0006449) | 2.68626366 |
| 79 | response to topologically incorrect protein (GO:0035966) | 2.68274404 |
| 80 | mesenchymal-epithelial cell signaling (GO:0060638) | 2.64934091 |
| 81 | regulation of branching involved in salivary gland morphogenesis (GO:0060693) | 2.64919748 |
| 82 | mitotic chromosome condensation (GO:0007076) | 2.58994536 |
| 83 | protein heterotrimerization (GO:0070208) | 2.58713976 |
| 84 | cellular response to vitamin (GO:0071295) | 2.58345779 |
| 85 | multicellular organismal macromolecule metabolic process (GO:0044259) | 2.57072043 |
| 86 | multicellular organismal catabolic process (GO:0044243) | 2.56767618 |
| 87 | multicellular organismal metabolic process (GO:0044236) | 2.56290387 |
| 88 | regulation of transforming growth factor beta1 production (GO:0032908) | 2.53764297 |
| 89 | protein carboxylation (GO:0018214) | 2.52389023 |
| 90 | peptidyl-glutamic acid carboxylation (GO:0017187) | 2.52389023 |
| 91 | negative regulation of DNA repair (GO:0045738) | 2.51402023 |
| 92 | substrate-dependent cell migration (GO:0006929) | 2.50821198 |
| 93 | tRNA aminoacylation for protein translation (GO:0006418) | 2.50710194 |
| 94 | sister chromatid segregation (GO:0000819) | 2.50291661 |
| 95 | extracellular matrix disassembly (GO:0022617) | 2.49984728 |
| 96 | cell migration involved in sprouting angiogenesis (GO:0002042) | 2.48744262 |
| 97 | regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547) | 2.48556674 |
| 98 | protein heterotetramerization (GO:0051290) | 2.47766491 |
| 99 | negative regulation of glycogen biosynthetic process (GO:0045719) | 2.47620648 |
| 100 | sprouting angiogenesis (GO:0002040) | 2.45344940 |
| 101 | notochord development (GO:0030903) | 2.45242061 |
| 102 | amino acid activation (GO:0043038) | 2.43738366 |
| 103 | tRNA aminoacylation (GO:0043039) | 2.43738366 |
| 104 | hippo signaling (GO:0035329) | 2.40402475 |
| 105 | nucleotide-sugar metabolic process (GO:0009225) | 2.39421058 |
| 106 | gland morphogenesis (GO:0022612) | 2.37746576 |
| 107 | positive regulation of protein autophosphorylation (GO:0031954) | 2.37013516 |
| 108 | cell redox homeostasis (GO:0045454) | 2.36897477 |
| 109 | lung vasculature development (GO:0060426) | 2.36851157 |
| 110 | regulation of integrin-mediated signaling pathway (GO:2001044) | 2.36796522 |
| 111 | positive regulation of endothelial cell apoptotic process (GO:2000353) | 2.36594637 |
| 112 | establishment of viral latency (GO:0019043) | 2.36263487 |
| 113 | positive regulation of osteoblast proliferation (GO:0033690) | 2.35895824 |
| 114 | ribosomal large subunit biogenesis (GO:0042273) | 2.35752093 |
| 115 | hyaluronan catabolic process (GO:0030214) | 2.35194753 |
| 116 | chaperone-mediated protein folding (GO:0061077) | 2.35094066 |
| 117 | paraxial mesoderm development (GO:0048339) | 2.32729778 |
| 118 | glucocorticoid receptor signaling pathway (GO:0042921) | 2.32407602 |
| 119 | negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948) | 2.32024283 |
| 120 | negative regulation of anoikis (GO:2000811) | 2.31860110 |
| 121 | regulation of transforming growth factor beta2 production (GO:0032909) | 2.29450007 |
| 122 | deoxyribonucleotide biosynthetic process (GO:0009263) | 2.29208700 |
| 123 | protein complex localization (GO:0031503) | 2.29204970 |
| 124 | mitotic nuclear envelope disassembly (GO:0007077) | 2.29050430 |
| 125 | wound healing, spreading of cells (GO:0044319) | 2.27452638 |
| 126 | positive regulation of hormone biosynthetic process (GO:0046886) | 2.26657924 |
| 127 | branching involved in prostate gland morphogenesis (GO:0060442) | 2.26638698 |
| 128 | cytoskeleton-dependent cytokinesis (GO:0061640) | 2.25982095 |
| 129 | iron ion import (GO:0097286) | 2.25848817 |
| 130 | membrane budding (GO:0006900) | 2.25367720 |
| 131 | sequestering of extracellular ligand from receptor (GO:0035581) | 2.24411948 |
| 132 | mesodermal cell differentiation (GO:0048333) | 2.22307309 |
| 133 | basement membrane organization (GO:0071711) | 2.20898969 |
| 134 | insulin-like growth factor receptor signaling pathway (GO:0048009) | 2.19614776 |
| 135 | endocardial cushion development (GO:0003197) | 2.18957817 |
| 136 | glycoprotein catabolic process (GO:0006516) | 2.18645593 |
| 137 | regulation of interleukin-8 secretion (GO:2000482) | 2.18596650 |
| 138 | regulation of ER to Golgi vesicle-mediated transport (GO:0060628) | 2.18241493 |
| 139 | negative regulation of chondrocyte differentiation (GO:0032331) | 2.18030817 |
| 140 | cartilage condensation (GO:0001502) | 2.17760813 |
| 141 | cell aggregation (GO:0098743) | 2.17760813 |
| 142 | glandular epithelial cell development (GO:0002068) | 2.16721445 |
| 143 | positive regulation of macrophage activation (GO:0043032) | 2.15722555 |
| 144 | regulation of extracellular matrix disassembly (GO:0010715) | 2.15544489 |
| 145 | wound healing, spreading of epidermal cells (GO:0035313) | 2.15011631 |
| 146 | cellular response to ATP (GO:0071318) | 2.14943802 |
| 147 | cellular glucuronidation (GO:0052695) | 2.13261849 |
| 148 | nucleotide transmembrane transport (GO:1901679) | 2.12974388 |
| 149 | regulation of plasminogen activation (GO:0010755) | 2.12179843 |
| 150 | regulation of apoptotic cell clearance (GO:2000425) | 2.11416818 |
| 151 | negative regulation of cartilage development (GO:0061037) | 2.10695011 |
| 152 | positive regulation of epithelial to mesenchymal transition (GO:0010718) | 2.09722063 |
| 153 | nuclear pore complex assembly (GO:0051292) | 2.09642968 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 4.85241741 |
| 2 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 3.34396882 |
| 3 | CLOCK_20551151_ChIP-Seq_293T_Human | 3.32353738 |
| 4 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 3.27859346 |
| 5 | E2F7_22180533_ChIP-Seq_HELA_Human | 3.04919937 |
| 6 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 2.98910468 |
| 7 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.98580248 |
| 8 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 2.73083660 |
| 9 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 2.55862986 |
| 10 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 2.53087430 |
| 11 | WT1_19549856_ChIP-ChIP_CCG9911_Human | 2.49733177 |
| 12 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 2.48564745 |
| 13 | STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse | 2.40217915 |
| 14 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 2.40094451 |
| 15 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 2.36747820 |
| 16 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 2.35223428 |
| 17 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 2.31305980 |
| 18 | SMAD_19615063_ChIP-ChIP_OVARY_Human | 2.22148797 |
| 19 | * CREB1_15753290_ChIP-ChIP_HEK293T_Human | 2.16864547 |
| 20 | CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse | 2.16217725 |
| 21 | FOXP3_17237761_ChIP-ChIP_TREG_Mouse | 2.15381996 |
| 22 | CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 2.13188836 |
| 23 | SALL4_18804426_ChIP-ChIP_XEN_Mouse | 2.09454688 |
| 24 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 2.08026138 |
| 25 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 2.04963690 |
| 26 | PRDM5_23873026_ChIP-Seq_MEFs_Mouse | 2.03014263 |
| 27 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 2.02365098 |
| 28 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.98605797 |
| 29 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.96752538 |
| 30 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.95154104 |
| 31 | BRD4_25478319_ChIP-Seq_HGPS_Human | 1.95148959 |
| 32 | GATA1_22025678_ChIP-Seq_K562_Human | 1.94897711 |
| 33 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 1.92118972 |
| 34 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.91113046 |
| 35 | CJUN_26792858_Chip-Seq_BT549_Human | 1.90121820 |
| 36 | * ELK1_19687146_ChIP-ChIP_HELA_Human | 1.89960532 |
| 37 | SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 1.89710167 |
| 38 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.83564735 |
| 39 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 1.83540274 |
| 40 | RXR_22158963_ChIP-Seq_LIVER_Mouse | 1.81930166 |
| 41 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 1.81459191 |
| 42 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 1.79527004 |
| 43 | SMAD2_18955504_ChIP-ChIP_HaCaT_Human | 1.78872449 |
| 44 | SMAD3_18955504_ChIP-ChIP_HaCaT_Human | 1.78872449 |
| 45 | * NFE2L2_20460467_ChIP-Seq_MEFs_Mouse | 1.72650380 |
| 46 | * NRF2_20460467_ChIP-Seq_MEFs_Mouse | 1.72650380 |
| 47 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 1.71437668 |
| 48 | * E2F1_18555785_ChIP-Seq_MESCs_Mouse | 1.70440727 |
| 49 | STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse | 1.70058276 |
| 50 | * KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 1.69994353 |
| 51 | LXR_22158963_ChIP-Seq_LIVER_Mouse | 1.68694548 |
| 52 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.67206035 |
| 53 | SOX2_20726797_ChIP-Seq_SW620_Human | 1.65508872 |
| 54 | RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 1.63130721 |
| 55 | NKX2-5_21415370_ChIP-Seq_HL-1_Mouse | 1.62522218 |
| 56 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.60174528 |
| 57 | * TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.58256852 |
| 58 | PPARA_22158963_ChIP-Seq_LIVER_Mouse | 1.57557165 |
| 59 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 1.56002611 |
| 60 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 1.45435326 |
| 61 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 1.44972062 |
| 62 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.44142530 |
| 63 | ASXL1_24218140_ChIP-Seq_BMDM_Mouse | 1.43479131 |
| 64 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 1.43312327 |
| 65 | FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.42989353 |
| 66 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.42184117 |
| 67 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 1.40779231 |
| 68 | HNF4A_19761587_ChIP-ChIP_CACO-2_Human | 1.38176194 |
| 69 | * ESR1_22446102_ChIP-Seq_UTERUS_Mouse | 1.32234616 |
| 70 | * ETS1_20019798_ChIP-Seq_JURKAT_Human | 1.32190633 |
| 71 | RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human | 1.31860971 |
| 72 | ELK1_22589737_ChIP-Seq_MCF10A_Human | 1.31676897 |
| 73 | * TFEB_21752829_ChIP-Seq_HELA_Human | 1.30339144 |
| 74 | ZNF263_19887448_ChIP-Seq_K562_Human | 1.29693917 |
| 75 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 1.28246010 |
| 76 | ATF3_23680149_ChIP-Seq_GBM1-GSC_Human | 1.28160183 |
| 77 | * CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 1.27408965 |
| 78 | EGR1_23403033_ChIP-Seq_LIVER_Mouse | 1.27308722 |
| 79 | * GATA4_25053715_ChIP-Seq_YYC3_Human | 1.26679541 |
| 80 | CHD1_26751641_Chip-Seq_LNCaP_Human | 1.25339885 |
| 81 | GATA3_24758297_ChIP-Seq_MCF-7_Human | 1.25148369 |
| 82 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 1.23934353 |
| 83 | SOX2_27498859_Chip-Seq_STOMACH_Mouse | 1.23331516 |
| 84 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 1.22102253 |
| 85 | KLF4_18555785_ChIP-Seq_MESCs_Mouse | 1.21612933 |
| 86 | NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 1.20992828 |
| 87 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.20790445 |
| 88 | * ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.20485267 |
| 89 | UBF1/2_26484160_Chip-Seq_HMECs_Human | 1.19030783 |
| 90 | GATA4_21415370_ChIP-Seq_HL-1_Mouse | 1.18286440 |
| 91 | NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse | 1.17667078 |
| 92 | EOMES_20176728_ChIP-ChIP_TSCs_Mouse | 1.17497279 |
| 93 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 1.15632763 |
| 94 | GATA2_21666600_ChIP-Seq_HMVEC_Human | 1.15479391 |
| 95 | MYB_21317192_ChIP-Seq_ERMYB_Mouse | 1.15236151 |
| 96 | KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.14836707 |
| 97 | * PPAR_26484153_Chip-Seq_NCI-H1993_Human | 1.13799386 |
| 98 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.13589594 |
| 99 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 1.12738021 |
| 100 | YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.11940839 |
| 101 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.11935554 |
| 102 | * Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse | 1.11584890 |
| 103 | FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human | 1.10029575 |
| 104 | HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse | 1.09722494 |
| 105 | * SOX17_20123909_ChIP-Seq_XEN_Mouse | 1.07789441 |
| 106 | * ASH2L_23239880_ChIP-Seq_MESCs_Mouse | 1.07707931 |
| 107 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.07262302 |
| 108 | NANOG_18555785_ChIP-Seq_MESCs_Mouse | 1.06814129 |
| 109 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.06560991 |
| 110 | FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.06539177 |
| 111 | MEF2A_21415370_ChIP-Seq_HL-1_Mouse | 1.06116604 |
| 112 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.05887064 |
| 113 | JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.05601278 |
| 114 | PADI4_21655091_ChIP-ChIP_MCF-7_Human | 1.04655614 |
| 115 | * PPARG_20887899_ChIP-Seq_3T3-L1_Mouse | 1.04317801 |
| 116 | ATF3_27146783_Chip-Seq_COLON_Human | 1.03384663 |
| 117 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 1.02351228 |
| 118 | GABP_19822575_ChIP-Seq_HepG2_Human | 1.02158499 |
| 119 | EP300_21415370_ChIP-Seq_HL-1_Mouse | 1.01801956 |
| 120 | NR1I2_20693526_ChIP-Seq_LIVER_Mouse | 1.01358608 |
| 121 | * CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.00573031 |
| 122 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 0.99948936 |
| 123 | CNOT3_19339689_ChIP-ChIP_MESCs_Mouse | 0.99667566 |
| 124 | DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 0.98998931 |
| 125 | HOXB4_20404135_ChIP-ChIP_EML_Mouse | 0.98905504 |
| 126 | SRF_21415370_ChIP-Seq_HL-1_Mouse | 0.97836086 |
| 127 | SALL4_18804426_ChIP-ChIP_MESCs_Mouse | 0.97383059 |
| 128 | XRN2_22483619_ChIP-Seq_HELA_Human | 0.97301011 |
| 129 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 0.96220938 |
| 130 | TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 0.94701425 |
| 131 | SREBP1_19666523_ChIP-Seq_LIVER_Mouse | 0.93761772 |
| 132 | FOXO3_23340844_ChIP-Seq_DLD1_Human | 0.93387266 |
| 133 | FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 0.93245885 |
| 134 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 0.93079054 |
| 135 | ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.92770555 |
| 136 | TBX5_21415370_ChIP-Seq_HL-1_Mouse | 0.92672974 |
| 137 | FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human | 0.90957590 |
| 138 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 0.90846588 |
| 139 | JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 0.90695131 |
| 140 | AR_21915096_ChIP-Seq_LNCaP-1F5_Human | 0.89760749 |
| 141 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 0.89151111 |
| 142 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 0.88925725 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0008438_abnormal_cutaneous_collagen | 5.02843986 |
| 2 | MP0003950_abnormal_plasma_membrane | 4.00881636 |
| 3 | MP0005503_abnormal_tendon_morphology | 3.41511187 |
| 4 | MP0003705_abnormal_hypodermis_morpholog | 3.32951015 |
| 5 | MP0006054_spinal_hemorrhage | 3.25646174 |
| 6 | MP0002877_abnormal_melanocyte_morpholog | 3.16895852 |
| 7 | MP0005275_abnormal_skin_tensile | 2.94838097 |
| 8 | MP0009384_cardiac_valve_regurgitation | 2.43261668 |
| 9 | MP0004272_abnormal_basement_membrane | 2.41533843 |
| 10 | MP0004957_abnormal_blastocyst_morpholog | 2.07419171 |
| 11 | MP0003279_aneurysm | 2.02756143 |
| 12 | MP0010352_gastrointestinal_tract_polyps | 1.89664094 |
| 13 | MP0003566_abnormal_cell_adhesion | 1.77734531 |
| 14 | MP0002896_abnormal_bone_mineralization | 1.74139108 |
| 15 | MP0009053_abnormal_anal_canal | 1.71775769 |
| 16 | MP0001958_emphysema | 1.62404414 |
| 17 | MP0002282_abnormal_trachea_morphology | 1.59209136 |
| 18 | MP0005508_abnormal_skeleton_morphology | 1.59034428 |
| 19 | MP0005408_hypopigmentation | 1.58685416 |
| 20 | MP0005220_abnormal_exocrine_pancreas | 1.55090417 |
| 21 | MP0004134_abnormal_chest_morphology | 1.52417296 |
| 22 | MP0008932_abnormal_embryonic_tissue | 1.49375247 |
| 23 | MP0000163_abnormal_cartilage_morphology | 1.48582496 |
| 24 | MP0009250_abnormal_appendicular_skeleto | 1.45209634 |
| 25 | MP0005023_abnormal_wound_healing | 1.39269346 |
| 26 | MP0003111_abnormal_nucleus_morphology | 1.37607613 |
| 27 | MP0002060_abnormal_skin_morphology | 1.36909667 |
| 28 | MP0002115_abnormal_skeleton_extremities | 1.36247960 |
| 29 | MP0002933_joint_inflammation | 1.35709184 |
| 30 | MP0004233_abnormal_muscle_weight | 1.35036654 |
| 31 | MP0010368_abnormal_lymphatic_system | 1.34892123 |
| 32 | MP0004084_abnormal_cardiac_muscle | 1.31640933 |
| 33 | MP0001299_abnormal_eye_distance/ | 1.30945841 |
| 34 | MP0003195_calcinosis | 1.30858516 |
| 35 | MP0002139_abnormal_hepatobiliary_system | 1.29730405 |
| 36 | MP0003300_gastrointestinal_ulcer | 1.29690750 |
| 37 | MP0003252_abnormal_bile_duct | 1.28400748 |
| 38 | MP0009780_abnormal_chondrocyte_physiolo | 1.28024217 |
| 39 | MP0001879_abnormal_lymphatic_vessel | 1.27879555 |
| 40 | MP0000749_muscle_degeneration | 1.27872103 |
| 41 | MP0000537_abnormal_urethra_morphology | 1.25836605 |
| 42 | MP0001661_extended_life_span | 1.22269044 |
| 43 | MP0003077_abnormal_cell_cycle | 1.22257674 |
| 44 | MP0005076_abnormal_cell_differentiation | 1.21162771 |
| 45 | MP0003191_abnormal_cellular_cholesterol | 1.20089959 |
| 46 | MP0003123_paternal_imprinting | 1.19713777 |
| 47 | MP0010094_abnormal_chromosome_stability | 1.18861127 |
| 48 | MP0005390_skeleton_phenotype | 1.17464606 |
| 49 | MP0002295_abnormal_pulmonary_circulatio | 1.16568786 |
| 50 | MP0002113_abnormal_skeleton_development | 1.16298626 |
| 51 | MP0003693_abnormal_embryo_hatching | 1.16201372 |
| 52 | MP0001542_abnormal_bone_strength | 1.15783921 |
| 53 | MP0009697_abnormal_copulation | 1.14971639 |
| 54 | MP0005257_abnormal_intraocular_pressure | 1.13763903 |
| 55 | MP0003868_abnormal_feces_composition | 1.12984424 |
| 56 | MP0004264_abnormal_extraembryonic_tissu | 1.12538781 |
| 57 | MP0003942_abnormal_urinary_system | 1.12517164 |
| 58 | MP0010030_abnormal_orbit_morphology | 1.11731131 |
| 59 | MP0004197_abnormal_fetal_growth/weight/ | 1.11694643 |
| 60 | MP0003806_abnormal_nucleotide_metabolis | 1.11668154 |
| 61 | MP0005367_renal/urinary_system_phenotyp | 1.09552452 |
| 62 | MP0000516_abnormal_urinary_system | 1.09552452 |
| 63 | MP0003795_abnormal_bone_structure | 1.07992885 |
| 64 | MP0001730_embryonic_growth_arrest | 1.07013708 |
| 65 | MP0001243_abnormal_dermal_layer | 1.06209067 |
| 66 | MP0001533_abnormal_skeleton_physiology | 1.05665636 |
| 67 | MP0000767_abnormal_smooth_muscle | 1.03822838 |
| 68 | MP0000358_abnormal_cell_content/ | 1.03258873 |
| 69 | MP0001672_abnormal_embryogenesis/_devel | 1.00999107 |
| 70 | MP0005380_embryogenesis_phenotype | 1.00999107 |
| 71 | MP0003091_abnormal_cell_migration | 1.00605676 |
| 72 | MP0005197_abnormal_uvea_morphology | 1.00123808 |
| 73 | MP0001348_abnormal_lacrimal_gland | 0.99120214 |
| 74 | MP0000350_abnormal_cell_proliferation | 0.98824404 |
| 75 | MP0003984_embryonic_growth_retardation | 0.96345899 |
| 76 | MP0002086_abnormal_extraembryonic_tissu | 0.96287183 |
| 77 | MP0005165_increased_susceptibility_to | 0.96174360 |
| 78 | MP0000013_abnormal_adipose_tissue | 0.95790601 |
| 79 | MP0002084_abnormal_developmental_patter | 0.94350184 |
| 80 | MP0001697_abnormal_embryo_size | 0.93304021 |
| 81 | MP0003786_premature_aging | 0.93130869 |
| 82 | MP0002109_abnormal_limb_morphology | 0.93051776 |
| 83 | MP0002088_abnormal_embryonic_growth/wei | 0.91838743 |
| 84 | MP0005365_abnormal_bile_salt | 0.91029727 |
| 85 | MP0003385_abnormal_body_wall | 0.89484683 |
| 86 | MP0004782_abnormal_surfactant_physiolog | 0.89282386 |
| 87 | MP0003186_abnormal_redox_activity | 0.88765040 |
| 88 | MP0003890_abnormal_embryonic-extraembry | 0.88104019 |
| 89 | MP0005623_abnormal_meninges_morphology | 0.87680176 |
| 90 | MP0000733_abnormal_muscle_development | 0.87659566 |
| 91 | MP0000428_abnormal_craniofacial_morphol | 0.86921908 |
| 92 | MP0003115_abnormal_respiratory_system | 0.86577053 |
| 93 | MP0005193_abnormal_anterior_eye | 0.84986643 |
| 94 | MP0005621_abnormal_cell_physiology | 0.84609398 |
| 95 | MP0003448_altered_tumor_morphology | 0.84471509 |
| 96 | MP0002085_abnormal_embryonic_tissue | 0.83850301 |
| 97 | MP0003283_abnormal_digestive_organ | 0.83831640 |
| 98 | MP0002080_prenatal_lethality | 0.83502470 |
| 99 | MP0005058_abnormal_lysosome_morphology | 0.83355716 |
| 100 | MP0005330_cardiomyopathy | 0.83109246 |
| 101 | MP0000751_myopathy | 0.82447503 |
| 102 | MP0002928_abnormal_bile_duct | 0.82089712 |
| 103 | MP0003943_abnormal_hepatobiliary_system | 0.81994462 |
| 104 | MP0001944_abnormal_pancreas_morphology | 0.81561903 |
| 105 | MP0010307_abnormal_tumor_latency | 0.81381238 |
| 106 | MP0002938_white_spotting | 0.80735010 |
| 107 | MP0003755_abnormal_palate_morphology | 0.80620585 |
| 108 | MP0001881_abnormal_mammary_gland | 0.80425095 |
| 109 | MP0005248_abnormal_Harderian_gland | 0.80355644 |
| 110 | MP0000003_abnormal_adipose_tissue | 0.80039832 |
| 111 | MP0002108_abnormal_muscle_morphology | 0.78291580 |
| 112 | MP0005360_urolithiasis | 0.77786883 |
| 113 | MP0002998_abnormal_bone_remodeling | 0.77438442 |
| 114 | MP0002254_reproductive_system_inflammat | 0.77359218 |
| 115 | MP0000759_abnormal_skeletal_muscle | 0.76734245 |
| 116 | MP0002269_muscular_atrophy | 0.76189515 |
| 117 | MP0005501_abnormal_skin_physiology | 0.75943656 |
| 118 | MP0005084_abnormal_gallbladder_morpholo | 0.75920858 |
| 119 | MP0005083_abnormal_biliary_tract | 0.75881810 |
| 120 | MP0005171_absent_coat_pigmentation | 0.75775669 |
| 121 | MP0000747_muscle_weakness | 0.75133691 |
| 122 | MP0008007_abnormal_cellular_replicative | 0.74669199 |
| 123 | MP0002932_abnormal_joint_morphology | 0.74587375 |
| 124 | MP0010234_abnormal_vibrissa_follicle | 0.73280734 |
| 125 | MP0005085_abnormal_gallbladder_physiolo | 0.73241917 |
| 126 | MP0003937_abnormal_limbs/digits/tail_de | 0.72706926 |
| 127 | MP0001849_ear_inflammation | 0.72656985 |
| 128 | MP0005384_cellular_phenotype | 0.72378411 |
| 129 | MP0002697_abnormal_eye_size | 0.72061319 |
| 130 | MP0002128_abnormal_blood_circulation | 0.72044601 |
| 131 | MP0001175_abnormal_lung_morphology | 0.71684104 |
| 132 | MP0001915_intracranial_hemorrhage | 0.71565122 |
| 133 | MP0003935_abnormal_craniofacial_develop | 0.71398523 |
| 134 | MP0001216_abnormal_epidermal_layer | 0.70986832 |
| 135 | MP0003221_abnormal_cardiomyocyte_apopto | 0.69995093 |
| 136 | MP0001666_abnormal_nutrient_absorption | 0.69945244 |
| 137 | MP0001270_distended_abdomen | 0.69667714 |
| 138 | MP0000432_abnormal_head_morphology | 0.69653466 |
| 139 | MP0000534_abnormal_ureter_morphology | 0.69213028 |
| 140 | MP0004087_abnormal_muscle_fiber | 0.69106314 |
| 141 | MP0000762_abnormal_tongue_morphology | 0.69015891 |
| 142 | MP0000858_altered_metastatic_potential | 0.68847552 |
| 143 | MP0002111_abnormal_tail_morphology | 0.68743190 |
| 144 | MP0005451_abnormal_body_composition | 0.68509556 |
| 145 | MP0002089_abnormal_postnatal_growth/wei | 0.67763411 |
| 146 | MP0001177_atelectasis | 0.67637406 |
| 147 | MP0003122_maternal_imprinting | 0.67274911 |
| 148 | MP0005164_abnormal_response_to | 0.65151984 |
| 149 | MP0003941_abnormal_skin_development | 0.64981028 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Epiphyseal dysplasia (HP:0002656) | 4.78385127 |
| 2 | Protrusio acetabuli (HP:0003179) | 4.10931106 |
| 3 | Cervical subluxation (HP:0003308) | 4.04921558 |
| 4 | Premature rupture of membranes (HP:0001788) | 3.97253934 |
| 5 | Abnormal foot bone ossification (HP:0010675) | 3.66333793 |
| 6 | Vitreoretinal degeneration (HP:0000655) | 3.64097357 |
| 7 | Cupped ribs (HP:0000887) | 3.57932968 |
| 8 | Hypoplastic ischia (HP:0003175) | 3.51151755 |
| 9 | Irregular epiphyses (HP:0010582) | 3.48706602 |
| 10 | Abnormal tarsal ossification (HP:0008369) | 3.48073453 |
| 11 | Abnormality of the ischium (HP:0003174) | 3.35262244 |
| 12 | Neonatal short-limb short stature (HP:0008921) | 2.98408992 |
| 13 | Aortic aneurysm (HP:0004942) | 2.95601705 |
| 14 | Thoracolumbar scoliosis (HP:0002944) | 2.91227940 |
| 15 | Fragile skin (HP:0001030) | 2.86603765 |
| 16 | Metaphyseal cupping (HP:0003021) | 2.84455828 |
| 17 | Flat acetabular roof (HP:0003180) | 2.82605461 |
| 18 | Beaking of vertebral bodies (HP:0004568) | 2.79847206 |
| 19 | Abnormality of the intrinsic pathway (HP:0010989) | 2.76588693 |
| 20 | Amniotic constriction ring (HP:0009775) | 2.75702518 |
| 21 | Abnormality of placental membranes (HP:0011409) | 2.75702518 |
| 22 | Wormian bones (HP:0002645) | 2.72522266 |
| 23 | Aortic dissection (HP:0002647) | 2.68823041 |
| 24 | Flat capital femoral epiphysis (HP:0003370) | 2.67268455 |
| 25 | Platyspondyly (HP:0000926) | 2.63837940 |
| 26 | Ankyloglossia (HP:0010296) | 2.63653343 |
| 27 | Osteoarthritis (HP:0002758) | 2.62226576 |
| 28 | Small epiphyses (HP:0010585) | 2.60762808 |
| 29 | Mesomelia (HP:0003027) | 2.60099468 |
| 30 | Exostoses (HP:0100777) | 2.58755476 |
| 31 | Aplasia/Hypoplasia of the frontal sinuses (HP:0009119) | 2.56061607 |
| 32 | Abnormality of dentin (HP:0010299) | 2.54336037 |
| 33 | Syringomyelia (HP:0003396) | 2.53925769 |
| 34 | Spinal cord lesions (HP:0100561) | 2.53925769 |
| 35 | Delayed epiphyseal ossification (HP:0002663) | 2.53085002 |
| 36 | Abnormalities of placenta or umbilical cord (HP:0001194) | 2.49755652 |
| 37 | Pterygium (HP:0001059) | 2.49621769 |
| 38 | Abnormality of the umbilical cord (HP:0010881) | 2.49234739 |
| 39 | Soft skin (HP:0000977) | 2.48368460 |
| 40 | Subacute progressive viral hepatitis (HP:0006572) | 2.46361367 |
| 41 | Elbow flexion contracture (HP:0002987) | 2.45116587 |
| 42 | Spondylolisthesis (HP:0003302) | 2.43243912 |
| 43 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.40539929 |
| 44 | Vertebral compression fractures (HP:0002953) | 2.40162370 |
| 45 | Abnormality of oral frenula (HP:0000190) | 2.36693793 |
| 46 | Blue sclerae (HP:0000592) | 2.36692318 |
| 47 | Cardiovascular calcification (HP:0011915) | 2.36622409 |
| 48 | Osteolytic defects of the hand bones (HP:0009699) | 2.32627227 |
| 49 | Osteolytic defects of the phalanges of the hand (HP:0009771) | 2.32627227 |
| 50 | Protuberant abdomen (HP:0001538) | 2.32236841 |
| 51 | Abnormal delivery (HP:0001787) | 2.27256472 |
| 52 | Type 1 muscle fiber predominance (HP:0003803) | 2.26023056 |
| 53 | Abnormality of the acetabulum (HP:0003170) | 2.26021287 |
| 54 | Popliteal pterygium (HP:0009756) | 2.25801553 |
| 55 | Hepatoblastoma (HP:0002884) | 2.24723118 |
| 56 | Entropion (HP:0000621) | 2.23171474 |
| 57 | Hypoglycemic coma (HP:0001325) | 2.22197892 |
| 58 | Metaphyseal dysplasia (HP:0100255) | 2.20937056 |
| 59 | Reduced subcutaneous adipose tissue (HP:0003758) | 2.20421046 |
| 60 | Abnormal vertebral ossification (HP:0100569) | 2.19744856 |
| 61 | Follicular hyperkeratosis (HP:0007502) | 2.19214397 |
| 62 | Vascular tortuosity (HP:0004948) | 2.18985688 |
| 63 | Abnormality of carpal bone ossification (HP:0006257) | 2.18677850 |
| 64 | Absent frontal sinuses (HP:0002688) | 2.17744832 |
| 65 | Vertebral hypoplasia (HP:0008417) | 2.17078687 |
| 66 | Aplasia/Hypoplasia of the vertebrae (HP:0008515) | 2.17078687 |
| 67 | Ankle contracture (HP:0006466) | 2.16958369 |
| 68 | Atrophic scars (HP:0001075) | 2.15747936 |
| 69 | Spinal rigidity (HP:0003306) | 2.15587046 |
| 70 | Flattened epiphyses (HP:0003071) | 2.15180653 |
| 71 | Coxa vara (HP:0002812) | 2.13777672 |
| 72 | Mild short stature (HP:0003502) | 2.13016403 |
| 73 | Abnormality of the common coagulation pathway (HP:0010990) | 2.12670420 |
| 74 | Abnormality of the calcaneus (HP:0008364) | 2.12305975 |
| 75 | Biconcave vertebral bodies (HP:0004586) | 2.10907042 |
| 76 | Breech presentation (HP:0001623) | 2.09107736 |
| 77 | Generalized amyotrophy (HP:0003700) | 2.08953484 |
| 78 | Hypoplasia of the odontoid process (HP:0003311) | 2.08497394 |
| 79 | Ovoid vertebral bodies (HP:0003300) | 2.08428971 |
| 80 | Abnormality of the fetal cardiovascular system (HP:0010948) | 2.07611766 |
| 81 | Abnormal umbilical cord blood vessels (HP:0011403) | 2.07611766 |
| 82 | Single umbilical artery (HP:0001195) | 2.07611766 |
| 83 | Asymmetry of the thorax (HP:0001555) | 2.07522683 |
| 84 | Dilatation of the ascending aorta (HP:0005111) | 2.05813949 |
| 85 | Stillbirth (HP:0003826) | 2.04897095 |
| 86 | Nonimmune hydrops fetalis (HP:0001790) | 2.03531300 |
| 87 | Slender build (HP:0001533) | 2.03032671 |
| 88 | Tetraparesis (HP:0002273) | 2.02996217 |
| 89 | Abnormality of the frontal sinuses (HP:0002687) | 2.01903758 |
| 90 | Hyperglycemia (HP:0003074) | 2.01311933 |
| 91 | Microglossia (HP:0000171) | 1.99796946 |
| 92 | Abnormality of glycolysis (HP:0004366) | 1.99139499 |
| 93 | Genu recurvatum (HP:0002816) | 1.97984105 |
| 94 | Mildly elevated creatine phosphokinase (HP:0008180) | 1.97268881 |
| 95 | Aplasia/Hypoplasia involving the sinuses (HP:0009120) | 1.95109881 |
| 96 | Mitral stenosis (HP:0001718) | 1.94807363 |
| 97 | Orthostatic hypotension (HP:0001278) | 1.94716641 |
| 98 | Abnormal pancreas size (HP:0012094) | 1.94256817 |
| 99 | Abnormal cartilage morphology (HP:0002763) | 1.93871440 |
| 100 | Abnormality of the vertebral endplates (HP:0005106) | 1.93346811 |
| 101 | Onycholysis (HP:0001806) | 1.92862155 |
| 102 | Irregular vertebral endplates (HP:0003301) | 1.92520712 |
| 103 | Hyperextensible skin (HP:0000974) | 1.92372867 |
| 104 | Long clavicles (HP:0000890) | 1.91402093 |
| 105 | Trismus (HP:0000211) | 1.91337567 |
| 106 | Abnormality of the lumbar spine (HP:0100712) | 1.90582033 |
| 107 | Peritonitis (HP:0002586) | 1.89995513 |
| 108 | Increased serum pyruvate (HP:0003542) | 1.89499193 |
| 109 | Bowel diverticulosis (HP:0005222) | 1.89292211 |
| 110 | Abnormality of the distal phalanges of the toes (HP:0010182) | 1.89251392 |
| 111 | Short 5th finger (HP:0009237) | 1.88493189 |
| 112 | Knee flexion contracture (HP:0006380) | 1.88440858 |
| 113 | Short nail (HP:0001799) | 1.88303847 |
| 114 | Abnormality of methionine metabolism (HP:0010901) | 1.86474552 |
| 115 | Abnormality of the odontoid process (HP:0003310) | 1.86396276 |
| 116 | Arterial tortuosity (HP:0005116) | 1.85964755 |
| 117 | Decreased skull ossification (HP:0004331) | 1.85863043 |
| 118 | Broad long bones (HP:0005622) | 1.84993573 |
| 119 | Short middle phalanx of the 5th finger (HP:0004220) | 1.84905341 |
| 120 | Abnormal ossification of hand bones (HP:0005921) | 1.84094226 |
| 121 | Nemaline bodies (HP:0003798) | 1.83793138 |
| 122 | Thin bony cortex (HP:0002753) | 1.83792501 |
| 123 | Delayed closure of the anterior fontanelle (HP:0001476) | 1.83326222 |
| 124 | Overgrowth (HP:0001548) | 1.82883178 |
| 125 | Delayed cranial suture closure (HP:0000270) | 1.82817829 |
| 126 | Disproportionate short-trunk short stature (HP:0003521) | 1.82615889 |
| 127 | Hypoglycemic seizures (HP:0002173) | 1.82520392 |
| 128 | Abnormality of incisor morphology (HP:0011063) | 1.81362726 |
| 129 | Abnormal hand bone ossification (HP:0010660) | 1.81070640 |
| 130 | Delayed gross motor development (HP:0002194) | 1.81057704 |
| 131 | Shallow orbits (HP:0000586) | 1.78659133 |
| 132 | Genu varum (HP:0002970) | 1.78424418 |
| 133 | Mitral valve prolapse (HP:0001634) | 1.78300976 |
| 134 | Bladder diverticulum (HP:0000015) | 1.78269297 |
| 135 | Coronal craniosynostosis (HP:0004440) | 1.77321503 |
| 136 | Natal tooth (HP:0000695) | 1.77182579 |
| 137 | Joint stiffness (HP:0001387) | 1.73881705 |
| 138 | Broad phalanx (HP:0006009) | 1.73751341 |
| 139 | Redundant skin (HP:0001582) | 1.73363120 |
| 140 | Broad face (HP:0000283) | 1.72928933 |
| 141 | Muscle fiber cytoplasmatic inclusion bodies (HP:0100303) | 1.72887387 |
| 142 | Ectopia lentis (HP:0001083) | 1.72749943 |
| 143 | Ulnar bowing (HP:0003031) | 1.72663416 |
| 144 | Metaphyseal irregularity (HP:0003025) | 1.71446364 |
| 145 | Termporal pattern (HP:0011008) | 1.71202431 |
| 146 | Insidious onset (HP:0003587) | 1.71202431 |
| 147 | Relative macrocephaly (HP:0004482) | 1.67357947 |
| 148 | Joint laxity (HP:0001388) | 1.64707389 |
| 149 | Vascular calcification (HP:0004934) | 1.61899730 |
| 150 | Aortic regurgitation (HP:0001659) | 1.56840636 |
| 151 | Renal duplication (HP:0000075) | 1.56292789 |
| 152 | Spinal cord compression (HP:0002176) | 1.56123994 |
| 153 | Disproportionate tall stature (HP:0001519) | 1.54642903 |
| 154 | Myocardial infarction (HP:0001658) | 1.54048746 |
| 155 | Nuclear cataract (HP:0100018) | 1.53764033 |
| 156 | Kyphoscoliosis (HP:0002751) | 1.53346243 |
| 157 | Limb-girdle muscle atrophy (HP:0003797) | 1.52958771 |
| 158 | Upper limb muscle weakness (HP:0003484) | 1.51159451 |
| 159 | Limb-girdle muscle weakness (HP:0003325) | 1.50745952 |
| 160 | Selective tooth agenesis (HP:0001592) | 1.50499974 |
| 161 | Abnormal auditory evoked potentials (HP:0006958) | 1.49973095 |
| 162 | Rough bone trabeculation (HP:0100670) | 1.49417640 |
| 163 | Sensory axonal neuropathy (HP:0003390) | 1.49239104 |
| 164 | Distal upper limb amyotrophy (HP:0007149) | 1.49011716 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | FRK | 3.48087601 |
| 2 | ERBB3 | 3.05275418 |
| 3 | LATS1 | 2.98938537 |
| 4 | DDR2 | 2.71362856 |
| 5 | BUB1 | 2.68378614 |
| 6 | MAP3K12 | 2.46795508 |
| 7 | ERN1 | 2.38937326 |
| 8 | NEK9 | 2.17858762 |
| 9 | FLT3 | 2.15478651 |
| 10 | PKN2 | 2.13162290 |
| 11 | SIK1 | 2.05813104 |
| 12 | LATS2 | 1.97928161 |
| 13 | BRSK2 | 1.96450664 |
| 14 | PASK | 1.93947279 |
| 15 | STK3 | 1.93924524 |
| 16 | MAP3K3 | 1.90942592 |
| 17 | STK38L | 1.87525990 |
| 18 | TRIB3 | 1.86932212 |
| 19 | PDGFRA | 1.85759790 |
| 20 | TESK1 | 1.83893663 |
| 21 | TTK | 1.83037081 |
| 22 | TSSK6 | 1.82835251 |
| 23 | NUAK1 | 1.78536759 |
| 24 | TRPM7 | 1.76345939 |
| 25 | EIF2AK3 | 1.75905820 |
| 26 | EPHA3 | 1.75150124 |
| 27 | RPS6KA4 | 1.71879346 |
| 28 | MET | 1.67710910 |
| 29 | ZAK | 1.67408800 |
| 30 | PTK6 | 1.65520901 |
| 31 | SRPK1 | 1.58086026 |
| 32 | SCYL2 | 1.57445373 |
| 33 | NME2 | 1.54415696 |
| 34 | PIK3CA | 1.52943547 |
| 35 | TTN | 1.49926128 |
| 36 | WEE1 | 1.46957478 |
| 37 | MOS | 1.32655041 |
| 38 | TRIM28 | 1.28938302 |
| 39 | LIMK1 | 1.27439820 |
| 40 | PIK3CG | 1.25710849 |
| 41 | STK24 | 1.25517001 |
| 42 | INSRR | 1.24622341 |
| 43 | MAP3K14 | 1.24500972 |
| 44 | MKNK1 | 1.20901252 |
| 45 | TGFBR1 | 1.13105945 |
| 46 | PDK2 | 1.12358896 |
| 47 | NTRK1 | 1.09747449 |
| 48 | PLK2 | 1.05332901 |
| 49 | EPHA2 | 1.04916926 |
| 50 | LRRK2 | 1.01834244 |
| 51 | JAK3 | 1.01396787 |
| 52 | MST4 | 1.01173134 |
| 53 | PRKG2 | 1.00784014 |
| 54 | CLK1 | 0.97421872 |
| 55 | CDK6 | 0.96144429 |
| 56 | PLK3 | 0.94400120 |
| 57 | PAK2 | 0.94004408 |
| 58 | BCKDK | 0.93893849 |
| 59 | PTK2 | 0.92024678 |
| 60 | STK10 | 0.90904693 |
| 61 | EIF2AK1 | 0.86349984 |
| 62 | FGFR1 | 0.84336882 |
| 63 | PDGFRB | 0.80090411 |
| 64 | TIE1 | 0.79759002 |
| 65 | FER | 0.79724124 |
| 66 | MST1R | 0.79476443 |
| 67 | PAK4 | 0.78648684 |
| 68 | FGFR3 | 0.78304296 |
| 69 | MUSK | 0.77633955 |
| 70 | STK16 | 0.76349806 |
| 71 | CHUK | 0.76259830 |
| 72 | PLK1 | 0.73331840 |
| 73 | TGFBR2 | 0.73227214 |
| 74 | EPHB2 | 0.72955954 |
| 75 | ARAF | 0.71914696 |
| 76 | PRKD3 | 0.71063905 |
| 77 | BCR | 0.71041861 |
| 78 | ERBB4 | 0.70611313 |
| 79 | ROCK2 | 0.70391094 |
| 80 | EEF2K | 0.67766273 |
| 81 | ACVR1B | 0.65726708 |
| 82 | SIK3 | 0.65554173 |
| 83 | TAOK3 | 0.64592614 |
| 84 | DMPK | 0.63796300 |
| 85 | FGFR2 | 0.63744175 |
| 86 | CHEK2 | 0.63729791 |
| 87 | ABL2 | 0.62871006 |
| 88 | STK4 | 0.62436607 |
| 89 | AKT3 | 0.61396885 |
| 90 | MAP2K3 | 0.61310608 |
| 91 | KSR1 | 0.60976569 |
| 92 | LMTK2 | 0.59726942 |
| 93 | PAK3 | 0.58028622 |
| 94 | MKNK2 | 0.57953577 |
| 95 | GSK3A | 0.57014995 |
| 96 | BMPR2 | 0.56023991 |
| 97 | PIM2 | 0.55596342 |
| 98 | NEK2 | 0.54722138 |
| 99 | DAPK3 | 0.54500538 |
| 100 | CDC7 | 0.54376222 |
| 101 | ILK | 0.54299919 |
| 102 | IRAK3 | 0.53802354 |
| 103 | JAK1 | 0.52202245 |
| 104 | NEK1 | 0.51398324 |
| 105 | BMX | 0.51275128 |
| 106 | TAF1 | 0.51064939 |
| 107 | MTOR | 0.50831369 |
| 108 | IGF1R | 0.50433463 |
| 109 | MARK3 | 0.50331063 |
| 110 | RPS6KB1 | 0.49741210 |
| 111 | MAP3K9 | 0.49341990 |
| 112 | BRAF | 0.47900633 |
| 113 | PBK | 0.47566265 |
| 114 | MELK | 0.46931992 |
| 115 | EIF2AK2 | 0.45825930 |
| 116 | CDK7 | 0.45684275 |
| 117 | MAP3K8 | 0.45655496 |
| 118 | PAK1 | 0.44888850 |
| 119 | PLK4 | 0.44204142 |
| 120 | RPS6KB2 | 0.44146799 |
| 121 | ROCK1 | 0.43047183 |
| 122 | AURKB | 0.42512206 |
| 123 | CHEK1 | 0.41940003 |
| 124 | BRSK1 | 0.41076061 |
| 125 | NEK6 | 0.40341090 |
| 126 | IRAK4 | 0.36323242 |
| 127 | RAF1 | 0.36248444 |
| 128 | AKT2 | 0.35435898 |
| 129 | RIPK1 | 0.35155186 |
| 130 | DYRK1B | 0.35145204 |
| 131 | FGFR4 | 0.35140995 |
| 132 | ATR | 0.34317416 |
| 133 | VRK2 | 0.33913559 |
| 134 | BMPR1B | 0.33832878 |
| 135 | MYLK | 0.33633848 |
| 136 | PIM1 | 0.33165563 |
| 137 | INSR | 0.31846129 |
| 138 | HIPK2 | 0.30801655 |
| 139 | CDK8 | 0.30308993 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Protein export_Homo sapiens_hsa03060 | 4.53226333 |
| 2 | * Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 3.23884402 |
| 3 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 2.89230253 |
| 4 | Sulfur metabolism_Homo sapiens_hsa00920 | 2.88405753 |
| 5 | Proteasome_Homo sapiens_hsa03050 | 2.87328960 |
| 6 | ECM-receptor interaction_Homo sapiens_hsa04512 | 2.50677493 |
| 7 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 2.45201980 |
| 8 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 2.33357154 |
| 9 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 2.04157602 |
| 10 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.91481418 |
| 11 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.79959458 |
| 12 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.78394336 |
| 13 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 1.78163079 |
| 14 | Focal adhesion_Homo sapiens_hsa04510 | 1.69047770 |
| 15 | Legionellosis_Homo sapiens_hsa05134 | 1.68589747 |
| 16 | Mismatch repair_Homo sapiens_hsa03430 | 1.63177208 |
| 17 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 1.62520019 |
| 18 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 1.61600443 |
| 19 | DNA replication_Homo sapiens_hsa03030 | 1.58240609 |
| 20 | Adherens junction_Homo sapiens_hsa04520 | 1.48003739 |
| 21 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.46554808 |
| 22 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.41149464 |
| 23 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 1.39084985 |
| 24 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 1.38356325 |
| 25 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 1.37515452 |
| 26 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.35161031 |
| 27 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 1.33482125 |
| 28 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 1.32668572 |
| 29 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 1.32144060 |
| 30 | Steroid biosynthesis_Homo sapiens_hsa00100 | 1.31924203 |
| 31 | Carbon metabolism_Homo sapiens_hsa01200 | 1.29052668 |
| 32 | Small cell lung cancer_Homo sapiens_hsa05222 | 1.26653085 |
| 33 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 1.25624797 |
| 34 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 1.22350702 |
| 35 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 1.13226925 |
| 36 | Basal transcription factors_Homo sapiens_hsa03022 | 1.11271520 |
| 37 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 1.10682953 |
| 38 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 1.08212249 |
| 39 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.07059360 |
| 40 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.06952604 |
| 41 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.06557992 |
| 42 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.05480840 |
| 43 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 1.04801597 |
| 44 | Thyroid cancer_Homo sapiens_hsa05216 | 1.04420378 |
| 45 | Malaria_Homo sapiens_hsa05144 | 1.04304224 |
| 46 | Prostate cancer_Homo sapiens_hsa05215 | 1.00922855 |
| 47 | RNA polymerase_Homo sapiens_hsa03020 | 0.98199685 |
| 48 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.96930794 |
| 49 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.96854520 |
| 50 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.95820523 |
| 51 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 0.94509809 |
| 52 | Lysosome_Homo sapiens_hsa04142 | 0.94377499 |
| 53 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.93804646 |
| 54 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.93201154 |
| 55 | Amoebiasis_Homo sapiens_hsa05146 | 0.92909732 |
| 56 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.91877787 |
| 57 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.90803025 |
| 58 | Galactose metabolism_Homo sapiens_hsa00052 | 0.90726286 |
| 59 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.90124088 |
| 60 | Cell cycle_Homo sapiens_hsa04110 | 0.89309791 |
| 61 | Phagosome_Homo sapiens_hsa04145 | 0.88767901 |
| 62 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.87570610 |
| 63 | Bladder cancer_Homo sapiens_hsa05219 | 0.87347148 |
| 64 | Ribosome_Homo sapiens_hsa03010 | 0.87303312 |
| 65 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.85443505 |
| 66 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.84133344 |
| 67 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.82241275 |
| 68 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.81506945 |
| 69 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.79909332 |
| 70 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 0.78202858 |
| 71 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 0.78064905 |
| 72 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.77597481 |
| 73 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.77040366 |
| 74 | Homologous recombination_Homo sapiens_hsa03440 | 0.76022548 |
| 75 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.75599645 |
| 76 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.75340816 |
| 77 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 0.75052073 |
| 78 | Viral myocarditis_Homo sapiens_hsa05416 | 0.73067490 |
| 79 | Spliceosome_Homo sapiens_hsa03040 | 0.71955285 |
| 80 | Insulin resistance_Homo sapiens_hsa04931 | 0.71085431 |
| 81 | Other glycan degradation_Homo sapiens_hsa00511 | 0.68819385 |
| 82 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.66683822 |
| 83 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.66661454 |
| 84 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.66638042 |
| 85 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.65684310 |
| 86 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.65300104 |
| 87 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.64635980 |
| 88 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.63587517 |
| 89 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.62849720 |
| 90 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 0.62622236 |
| 91 | RNA degradation_Homo sapiens_hsa03018 | 0.62511839 |
| 92 | Hepatitis B_Homo sapiens_hsa05161 | 0.61405610 |
| 93 | Leishmaniasis_Homo sapiens_hsa05140 | 0.60672899 |
| 94 | Peroxisome_Homo sapiens_hsa04146 | 0.60523841 |
| 95 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.59913290 |
| 96 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.59717828 |
| 97 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.59034065 |
| 98 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.58738223 |
| 99 | TNF signaling pathway_Homo sapiens_hsa04668 | 0.57367716 |
| 100 | Lysine degradation_Homo sapiens_hsa00310 | 0.57155941 |
| 101 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.55117905 |
| 102 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.54959272 |
| 103 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.54812436 |
| 104 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.53799023 |
| 105 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.53480717 |
| 106 | Pertussis_Homo sapiens_hsa05133 | 0.52696574 |
| 107 | HTLV-I infection_Homo sapiens_hsa05166 | 0.51867076 |
| 108 | Melanoma_Homo sapiens_hsa05218 | 0.50384990 |
| 109 | Apoptosis_Homo sapiens_hsa04210 | 0.50247965 |
| 110 | Purine metabolism_Homo sapiens_hsa00230 | 0.49728536 |
| 111 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.49244062 |
| 112 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.48331923 |
| 113 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.47650448 |
| 114 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.47469927 |
| 115 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.47171372 |
| 116 | Shigellosis_Homo sapiens_hsa05131 | 0.46189549 |
| 117 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.44983408 |
| 118 | Tight junction_Homo sapiens_hsa04530 | 0.44073474 |
| 119 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.43788046 |
| 120 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.42882877 |
| 121 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 0.42321227 |
| 122 | Endometrial cancer_Homo sapiens_hsa05213 | 0.42160366 |
| 123 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.41579500 |
| 124 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.41186058 |
| 125 | RNA transport_Homo sapiens_hsa03013 | 0.40979995 |
| 126 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.40443646 |
| 127 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.39504522 |
| 128 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.39298016 |
| 129 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.37978003 |
| 130 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.37745274 |
| 131 | Renal cell carcinoma_Homo sapiens_hsa05211 | 0.37264441 |
| 132 | Measles_Homo sapiens_hsa05162 | 0.37155509 |
| 133 | Histidine metabolism_Homo sapiens_hsa00340 | 0.37004505 |
| 134 | Pathways in cancer_Homo sapiens_hsa05200 | 0.36509886 |
| 135 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.35379879 |
| 136 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 0.35108603 |
| 137 | Metabolic pathways_Homo sapiens_hsa01100 | 0.34215145 |
| 138 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.34110410 |
| 139 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.33487446 |
| 140 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.29537148 |
| 141 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.29297761 |
| 142 | Prion diseases_Homo sapiens_hsa05020 | 0.28662043 |
| 143 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.27919370 |

