

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | keratan sulfate catabolic process (GO:0042340) | 6.59826437 |
| 2 | collagen fibril organization (GO:0030199) | 5.89427772 |
| 3 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 5.76246801 |
| 4 | notochord development (GO:0030903) | 5.75038679 |
| 5 | cartilage condensation (GO:0001502) | 5.58092188 |
| 6 | cell aggregation (GO:0098743) | 5.58092188 |
| 7 | establishment of integrated proviral latency (GO:0075713) | 5.39367369 |
| 8 | chondrocyte development (GO:0002063) | 5.14325476 |
| 9 | extracellular fibril organization (GO:0043206) | 4.86719150 |
| 10 | establishment of viral latency (GO:0019043) | 4.75452997 |
| 11 | protein heterotrimerization (GO:0070208) | 4.70654733 |
| 12 | regulation of posttranscriptional gene silencing (GO:0060147) | 4.54408295 |
| 13 | regulation of gene silencing by miRNA (GO:0060964) | 4.54408295 |
| 14 | regulation of gene silencing by RNA (GO:0060966) | 4.54408295 |
| 15 | paraxial mesoderm development (GO:0048339) | 4.40807839 |
| 16 | protein complex localization (GO:0031503) | 4.35985379 |
| 17 | L-serine metabolic process (GO:0006563) | 4.35934926 |
| 18 | endothelial cell morphogenesis (GO:0001886) | 4.30501252 |
| 19 | nuclear pore organization (GO:0006999) | 4.29959644 |
| 20 | fibril organization (GO:0097435) | 4.26937803 |
| 21 | nuclear pore complex assembly (GO:0051292) | 4.19795569 |
| 22 | cellular protein complex localization (GO:0034629) | 4.03338346 |
| 23 | heterochromatin organization (GO:0070828) | 3.90518026 |
| 24 | positive regulation of SMAD protein import into nucleus (GO:0060391) | 3.87876584 |
| 25 | chondrocyte proliferation (GO:0035988) | 3.80432919 |
| 26 | regulation of cell fate specification (GO:0042659) | 3.79581200 |
| 27 | regulation of SMAD protein import into nucleus (GO:0060390) | 3.74845300 |
| 28 | bone trabecula formation (GO:0060346) | 3.74786690 |
| 29 | collagen metabolic process (GO:0032963) | 3.63957922 |
| 30 | collagen catabolic process (GO:0030574) | 3.58715038 |
| 31 | sequestering of extracellular ligand from receptor (GO:0035581) | 3.57119666 |
| 32 | cell migration involved in sprouting angiogenesis (GO:0002042) | 3.52922845 |
| 33 | negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948) | 3.52499157 |
| 34 | regulation of transforming growth factor beta2 production (GO:0032909) | 3.43097623 |
| 35 | multicellular organismal macromolecule metabolic process (GO:0044259) | 3.39545342 |
| 36 | dermatan sulfate biosynthetic process (GO:0030208) | 3.36578124 |
| 37 | pre-miRNA processing (GO:0031054) | 3.32571506 |
| 38 | mitotic metaphase plate congression (GO:0007080) | 3.30297369 |
| 39 | multicellular organismal catabolic process (GO:0044243) | 3.27119173 |
| 40 | pore complex assembly (GO:0046931) | 3.24378917 |
| 41 | multicellular organismal metabolic process (GO:0044236) | 3.23478689 |
| 42 | anterior/posterior axis specification, embryo (GO:0008595) | 3.23140361 |
| 43 | ventricular cardiac muscle cell development (GO:0055015) | 3.22836467 |
| 44 | metanephric mesenchyme development (GO:0072075) | 3.20473229 |
| 45 | protein localization to kinetochore (GO:0034501) | 3.20120781 |
| 46 | planar cell polarity pathway involved in neural tube closure (GO:0090179) | 3.18587724 |
| 47 | peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800) | 3.17561777 |
| 48 | pericardium development (GO:0060039) | 3.16246884 |
| 49 | negative regulation of chondrocyte differentiation (GO:0032331) | 3.14866357 |
| 50 | neuron projection extension involved in neuron projection guidance (GO:1902284) | 3.14242434 |
| 51 | axon extension involved in axon guidance (GO:0048846) | 3.14242434 |
| 52 | regulation of Wnt signaling pathway involved in heart development (GO:0003307) | 3.13219812 |
| 53 | kidney mesenchyme development (GO:0072074) | 3.12990696 |
| 54 | positive regulation of endothelial cell differentiation (GO:0045603) | 3.12410767 |
| 55 | negative regulation of androgen receptor signaling pathway (GO:0060766) | 3.11023638 |
| 56 | endocardial cushion morphogenesis (GO:0003203) | 3.09641911 |
| 57 | cranial suture morphogenesis (GO:0060363) | 3.08038015 |
| 58 | glomerular visceral epithelial cell development (GO:0072015) | 3.07537896 |
| 59 | limb bud formation (GO:0060174) | 3.04530713 |
| 60 | IMP biosynthetic process (GO:0006188) | 3.04364551 |
| 61 | retina vasculature morphogenesis in camera-type eye (GO:0061299) | 3.04268626 |
| 62 | branching involved in salivary gland morphogenesis (GO:0060445) | 3.01336891 |
| 63 | extracellular matrix assembly (GO:0085029) | 3.01250679 |
| 64 | response to BMP (GO:0071772) | 3.00849997 |
| 65 | cellular response to BMP stimulus (GO:0071773) | 3.00849997 |
| 66 | nucleobase biosynthetic process (GO:0046112) | 3.00768584 |
| 67 | extracellular matrix disassembly (GO:0022617) | 2.98539301 |
| 68 | protein maturation by protein folding (GO:0022417) | 2.96908619 |
| 69 | dermatan sulfate metabolic process (GO:0030205) | 2.95662860 |
| 70 | negative regulation of cartilage development (GO:0061037) | 2.95285262 |
| 71 | negative regulation of telomerase activity (GO:0051974) | 2.94408096 |
| 72 | craniofacial suture morphogenesis (GO:0097094) | 2.94086578 |
| 73 | folic acid-containing compound biosynthetic process (GO:0009396) | 2.93866268 |
| 74 | chondroitin sulfate biosynthetic process (GO:0030206) | 2.93501185 |
| 75 | DNA unwinding involved in DNA replication (GO:0006268) | 2.92539008 |
| 76 | ribosome assembly (GO:0042255) | 2.91873466 |
| 77 | keratan sulfate biosynthetic process (GO:0018146) | 2.91261181 |
| 78 | regulation of mesoderm development (GO:2000380) | 2.89316846 |
| 79 | convergent extension (GO:0060026) | 2.88656470 |
| 80 | basement membrane organization (GO:0071711) | 2.88127166 |
| 81 | regulation of establishment of planar polarity involved in neural tube closure (GO:0090178) | 2.87012517 |
| 82 | cell adhesion mediated by integrin (GO:0033627) | 2.86516743 |
| 83 | metaphase plate congression (GO:0051310) | 2.85007791 |
| 84 | mesenchyme morphogenesis (GO:0072132) | 2.83969778 |
| 85 | cell fate commitment involved in formation of primary germ layer (GO:0060795) | 2.81889035 |
| 86 | mesenchymal-epithelial cell signaling (GO:0060638) | 2.80675814 |
| 87 | atrioventricular valve morphogenesis (GO:0003181) | 2.78821246 |
| 88 | embryonic skeletal joint morphogenesis (GO:0060272) | 2.78615417 |
| 89 | negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518) | 2.78330227 |
| 90 | maintenance of protein localization in endoplasmic reticulum (GO:0035437) | 2.78214025 |
| 91 | endodermal cell differentiation (GO:0035987) | 2.77880749 |
| 92 | positive regulation of catenin import into nucleus (GO:0035413) | 2.77740227 |
| 93 | regulation of mitotic spindle organization (GO:0060236) | 2.77279163 |
| 94 | regulation of gastrulation (GO:0010470) | 2.76536820 |
| 95 | negative regulation of mitotic metaphase/anaphase transition (GO:0045841) | 2.76315585 |
| 96 | negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100) | 2.76315585 |
| 97 | negative regulation of mitotic sister chromatid segregation (GO:0033048) | 2.76315585 |
| 98 | negative regulation of mitotic sister chromatid separation (GO:2000816) | 2.76315585 |
| 99 | negative regulation of sister chromatid segregation (GO:0033046) | 2.76315585 |
| 100 | branching involved in labyrinthine layer morphogenesis (GO:0060670) | 2.74229069 |
| 101 | substrate-dependent cell migration (GO:0006929) | 2.73463129 |
| 102 | mitotic nuclear envelope disassembly (GO:0007077) | 2.73355653 |
| 103 | protein retention in ER lumen (GO:0006621) | 2.71975045 |
| 104 | hippo signaling (GO:0035329) | 2.71012459 |
| 105 | lung-associated mesenchyme development (GO:0060484) | 2.70817869 |
| 106 | negative regulation of chromosome segregation (GO:0051985) | 2.70014792 |
| 107 | replacement ossification (GO:0036075) | 2.68956667 |
| 108 | endochondral ossification (GO:0001958) | 2.68956667 |
| 109 | extracellular structure organization (GO:0043062) | 2.68873360 |
| 110 | cellular response to hepatocyte growth factor stimulus (GO:0035729) | 2.68551922 |
| 111 | response to hepatocyte growth factor (GO:0035728) | 2.68551922 |
| 112 | extracellular matrix organization (GO:0030198) | 2.68268497 |
| 113 | cartilage development (GO:0051216) | 2.67918768 |
| 114 | histone arginine methylation (GO:0034969) | 2.67295211 |
| 115 | proteasome assembly (GO:0043248) | 2.66278673 |
| 116 | mammary gland development (GO:0030879) | 2.65978656 |
| 117 | nodal signaling pathway (GO:0038092) | 2.65290904 |
| 118 | skin morphogenesis (GO:0043589) | 2.63157138 |
| 119 | cardiac epithelial to mesenchymal transition (GO:0060317) | 2.63115424 |
| 120 | negative regulation of smooth muscle cell migration (GO:0014912) | 2.62374179 |
| 121 | regulation of hippo signaling (GO:0035330) | 2.62156587 |
| 122 | trophoblast giant cell differentiation (GO:0060707) | 2.59591637 |
| 123 | glomerular basement membrane development (GO:0032836) | 2.59170265 |
| 124 | regulation of cardiac muscle cell differentiation (GO:2000725) | 2.58981148 |
| 125 | purine nucleobase biosynthetic process (GO:0009113) | 2.58433491 |
| 126 | protein K6-linked ubiquitination (GO:0085020) | 2.57675621 |
| 127 | regulation of helicase activity (GO:0051095) | 2.57592809 |
| 128 | protein localization to cell surface (GO:0034394) | 2.57287540 |
| 129 | regulation of branching involved in salivary gland morphogenesis (GO:0060693) | 2.56976471 |
| 130 | membrane disassembly (GO:0030397) | 2.56847228 |
| 131 | nuclear envelope disassembly (GO:0051081) | 2.56847228 |
| 132 | positive regulation of osteoblast proliferation (GO:0033690) | 2.56647485 |
| 133 | G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199 | 2.55370541 |
| 134 | positive regulation of astrocyte differentiation (GO:0048711) | 2.54560032 |
| 135 | regulation of epithelial cell differentiation involved in kidney development (GO:2000696) | 2.54403508 |
| 136 | DNA replication-dependent nucleosome assembly (GO:0006335) | 2.54152400 |
| 137 | DNA replication-dependent nucleosome organization (GO:0034723) | 2.54152400 |
| 138 | somatic hypermutation of immunoglobulin genes (GO:0016446) | 2.53535308 |
| 139 | somatic diversification of immune receptors via somatic mutation (GO:0002566) | 2.53535308 |
| 140 | regulation of centriole replication (GO:0046599) | 2.51844135 |
| 141 | glomerular epithelial cell development (GO:0072310) | 2.51726583 |
| 142 | response to X-ray (GO:0010165) | 2.50868244 |
| 143 | mitotic spindle checkpoint (GO:0071174) | 2.50823090 |
| 144 | barbed-end actin filament capping (GO:0051016) | 2.50787380 |
| 145 | positive regulation of cartilage development (GO:0061036) | 2.50766429 |
| 146 | regulation of nephron tubule epithelial cell differentiation (GO:0072182) | 2.50726235 |
| 147 | DNA replication initiation (GO:0006270) | 2.50413546 |
| 148 | female gonad development (GO:0008585) | 2.49143676 |
| 149 | spindle checkpoint (GO:0031577) | 2.48283508 |
| 150 | regulation of cell fate commitment (GO:0010453) | 2.47976865 |
| 151 | regulation of chondrocyte differentiation (GO:0032330) | 2.47834746 |
| 152 | muscle cell migration (GO:0014812) | 2.47758265 |
| 153 | IMP metabolic process (GO:0046040) | 2.47060123 |
| 154 | wound healing, spreading of epidermal cells (GO:0035313) | 2.45387312 |
| 155 | skeletal system development (GO:0001501) | 2.44636353 |
| 156 | regulation of catenin import into nucleus (GO:0035412) | 2.44421818 |
| 157 | regulation of spindle organization (GO:0090224) | 2.44017474 |
| 158 | epithelial cell-cell adhesion (GO:0090136) | 2.43520973 |
| 159 | negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144) | 2.43447938 |
| 160 | somite development (GO:0061053) | 2.43429836 |
| 161 | * nucleotide-sugar biosynthetic process (GO:0009226) | 2.42896317 |
| 162 | negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147) | 2.42801638 |
| 163 | regulation of endothelial cell differentiation (GO:0045601) | 2.42653741 |
| 164 | protein localization to chromosome, centromeric region (GO:0071459) | 2.42314405 |
| 165 | nuclear envelope reassembly (GO:0031468) | 2.41990876 |
| 166 | mitotic nuclear envelope reassembly (GO:0007084) | 2.41990876 |
| 167 | regulation of cartilage development (GO:0061035) | 2.41002589 |
| 168 | cell surface receptor signaling pathway involved in heart development (GO:0061311) | 2.40589595 |
| 169 | mitotic spindle assembly checkpoint (GO:0007094) | 2.40565176 |
| 170 | positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241) | 2.40407277 |
| 171 | regulation of telomere maintenance via telomerase (GO:0032210) | 2.40394644 |
| 172 | negative regulation of cell fate specification (GO:0009996) | 2.40384418 |
| 173 | positive regulation of chondrocyte differentiation (GO:0032332) | 2.40358835 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | E2F7_22180533_ChIP-Seq_HELA_Human | 8.03460694 |
| 2 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 4.91103144 |
| 3 | KLF2_18264089_ChIP-ChIP_MESCs_Mouse | 3.57552009 |
| 4 | KLF5_18264089_ChIP-ChIP_MESCs_Mouse | 3.57552009 |
| 5 | KLF4_18264089_ChIP-ChIP_MESCs_Mouse | 3.57552009 |
| 6 | * MYC_18555785_ChIP-Seq_MESCs_Mouse | 3.30882907 |
| 7 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 3.27008334 |
| 8 | NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 3.20524871 |
| 9 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 3.08236982 |
| 10 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 2.88673829 |
| 11 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 2.77998820 |
| 12 | TCF3_18692474_ChIP-Seq_MEFs_Mouse | 2.75503568 |
| 13 | SMAD1_18555785_ChIP-Seq_MESCs_Mouse | 2.71325025 |
| 14 | NACC1_18358816_ChIP-ChIP_MESCs_Mouse | 2.70669914 |
| 15 | ZIC3_20872845_ChIP-ChIP_MESCs_Mouse | 2.58432301 |
| 16 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 2.52684008 |
| 17 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 2.50026719 |
| 18 | * SMAD3_22036565_ChIP-Seq_ESCs_Mouse | 2.48632400 |
| 19 | SALL4_18804426_ChIP-ChIP_MESCs_Mouse | 2.40187110 |
| 20 | SOX2_18358816_ChIP-ChIP_MESCs_Mouse | 2.35877787 |
| 21 | * KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 2.30237602 |
| 22 | ZFP281_18358816_ChIP-ChIP_MESCs_Mouse | 2.18337801 |
| 23 | TCF3_18692474_ChIP-Seq_MESCs_Mouse | 2.17172920 |
| 24 | STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse | 2.09822415 |
| 25 | * STAT3_1855785_ChIP-Seq_MESCs_Mouse | 2.08025359 |
| 26 | POU5F1_18358816_ChIP-ChIP_MESCs_Mouse | 2.06124991 |
| 27 | SOX2_18555785_ChIP-Seq_MESCs_Mouse | 2.04694611 |
| 28 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 2.00949732 |
| 29 | NANOG_18555785_ChIP-Seq_MESCs_Mouse | 2.00547393 |
| 30 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 2.00130276 |
| 31 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 1.98311851 |
| 32 | * NELFA_20434984_ChIP-Seq_ESCs_Mouse | 1.97277832 |
| 33 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.95615087 |
| 34 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 1.90475006 |
| 35 | HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse | 1.87626437 |
| 36 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.86520522 |
| 37 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 1.82462866 |
| 38 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 1.78733088 |
| 39 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.72615804 |
| 40 | WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 1.70656088 |
| 41 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 1.65527414 |
| 42 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.64758546 |
| 43 | SMAD_19615063_ChIP-ChIP_OVARY_Human | 1.61492301 |
| 44 | RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 1.60070147 |
| 45 | SOX2_16153702_ChIP-ChIP_HESCs_Human | 1.59641932 |
| 46 | * BRD4_25478319_ChIP-Seq_HGPS_Human | 1.58213300 |
| 47 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 1.57914458 |
| 48 | * CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse | 1.55202104 |
| 49 | NANOG_18358816_ChIP-ChIP_MESCs_Mouse | 1.54407926 |
| 50 | CJUN_26792858_Chip-Seq_BT549_Human | 1.50256198 |
| 51 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 1.50198361 |
| 52 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.50050653 |
| 53 | * SOX2_18692474_ChIP-Seq_MEFs_Mouse | 1.44216480 |
| 54 | NANOG_18692474_ChIP-Seq_MEFs_Mouse | 1.43611339 |
| 55 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 1.42243576 |
| 56 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.42122595 |
| 57 | TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.41383797 |
| 58 | CLOCK_20551151_ChIP-Seq_293T_Human | 1.40703987 |
| 59 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 1.39475822 |
| 60 | SALL4_18804426_ChIP-ChIP_XEN_Mouse | 1.38249143 |
| 61 | * ATF3_23680149_ChIP-Seq_GBM1-GSC_Human | 1.35750884 |
| 62 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.35160382 |
| 63 | TCF3_18467660_ChIP-ChIP_MESCs_Mouse | 1.34781109 |
| 64 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.34703815 |
| 65 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 1.33913265 |
| 66 | KLF4_19030024_ChIP-ChIP_MESCs_Mouse | 1.32114548 |
| 67 | WT1_19549856_ChIP-ChIP_CCG9911_Human | 1.31875903 |
| 68 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 1.31603057 |
| 69 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 1.30727752 |
| 70 | NANOG_18347094_ChIP-ChIP_MESCs_Mouse | 1.30721112 |
| 71 | NANOG_16153702_ChIP-ChIP_HESCs_Human | 1.30322760 |
| 72 | POU5F1_18347094_ChIP-ChIP_MESCs_Mouse | 1.29051275 |
| 73 | * ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.28700982 |
| 74 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.28347209 |
| 75 | * TCF3_18347094_ChIP-ChIP_MESCs_Mouse | 1.28068826 |
| 76 | POU5F1_16518401_ChIP-PET_MESCs_Mouse | 1.26708324 |
| 77 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 1.23962589 |
| 78 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 1.22629906 |
| 79 | * E2F1_18555785_ChIP-Seq_MESCs_Mouse | 1.20764221 |
| 80 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 1.19966334 |
| 81 | * EP300_21415370_ChIP-Seq_HL-1_Mouse | 1.19965980 |
| 82 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.19952723 |
| 83 | TBX3_20139965_ChIP-Seq_ESCs_Mouse | 1.19731229 |
| 84 | CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 1.19611674 |
| 85 | TBX3_20139965_ChIP-Seq_MESCs_Mouse | 1.17211886 |
| 86 | NANOG_18692474_ChIP-Seq_MESCs_Mouse | 1.16925671 |
| 87 | NKX2-5_21415370_ChIP-Seq_HL-1_Mouse | 1.16186521 |
| 88 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 1.15589891 |
| 89 | * SOX2_18692474_ChIP-Seq_MESCs_Mouse | 1.15306792 |
| 90 | * SOX17_20123909_ChIP-Seq_XEN_Mouse | 1.14345947 |
| 91 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 1.11587781 |
| 92 | ELK1_19687146_ChIP-ChIP_HELA_Human | 1.11309021 |
| 93 | * KLF4_18358816_ChIP-ChIP_MESCs_Mouse | 1.11106152 |
| 94 | PRDM5_23873026_ChIP-Seq_MEFs_Mouse | 1.10895606 |
| 95 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 1.10681942 |
| 96 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.10504295 |
| 97 | EOMES_20176728_ChIP-ChIP_TSCs_Mouse | 1.09515137 |
| 98 | SMAD3_18955504_ChIP-ChIP_HaCaT_Human | 1.09332964 |
| 99 | SMAD2_18955504_ChIP-ChIP_HaCaT_Human | 1.09332964 |
| 100 | NR0B1_18358816_ChIP-ChIP_MESCs_Mouse | 1.08208661 |
| 101 | NANOG_16518401_ChIP-PET_MESCs_Mouse | 1.06560668 |
| 102 | TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 1.06153598 |
| 103 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.04566257 |
| 104 | OCT4_18692474_ChIP-Seq_MEFs_Mouse | 1.04229531 |
| 105 | SOX2_19030024_ChIP-ChIP_MESCs_Mouse | 1.03140172 |
| 106 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.02763425 |
| 107 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.01447472 |
| 108 | ESR1_22446102_ChIP-Seq_UTERUS_Mouse | 1.00800924 |
| 109 | * PRDM14_21183938_ChIP-Seq_MESCs_Mouse | 0.97377878 |
| 110 | ESR1_15608294_ChIP-ChIP_MCF-7_Human | 0.96511331 |
| 111 | TRIM28_17542650_ChIP-ChIP_NTERA2_Human | 0.96091124 |
| 112 | NANOG_21062744_ChIP-ChIP_HESCs_Human | 0.95971058 |
| 113 | JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 0.93643073 |
| 114 | SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 0.93412059 |
| 115 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 0.90370421 |
| 116 | JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 0.89408017 |
| 117 | ZFP281_18757296_ChIP-ChIP_E14_Mouse | 0.89400504 |
| 118 | KLF4_18555785_ChIP-Seq_MESCs_Mouse | 0.87342922 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005503_abnormal_tendon_morphology | 6.75845790 |
| 2 | MP0008438_abnormal_cutaneous_collagen | 5.90217084 |
| 3 | MP0005275_abnormal_skin_tensile | 4.66853983 |
| 4 | MP0002254_reproductive_system_inflammat | 4.59491614 |
| 5 | MP0003705_abnormal_hypodermis_morpholog | 2.86774340 |
| 6 | MP0002282_abnormal_trachea_morphology | 2.79362979 |
| 7 | MP0004134_abnormal_chest_morphology | 2.71214931 |
| 8 | MP0005508_abnormal_skeleton_morphology | 2.49202939 |
| 9 | MP0003279_aneurysm | 2.37996124 |
| 10 | MP0002108_abnormal_muscle_morphology | 2.32148900 |
| 11 | MP0002933_joint_inflammation | 2.31874492 |
| 12 | MP0001958_emphysema | 2.20496359 |
| 13 | MP0009250_abnormal_appendicular_skeleto | 2.16479402 |
| 14 | MP0004272_abnormal_basement_membrane | 2.06986690 |
| 15 | MP0010352_gastrointestinal_tract_polyps | 2.06620309 |
| 16 | MP0003123_paternal_imprinting | 2.05999866 |
| 17 | MP0010030_abnormal_orbit_morphology | 2.00999548 |
| 18 | MP0003950_abnormal_plasma_membrane | 1.98201284 |
| 19 | MP0000163_abnormal_cartilage_morphology | 1.90417065 |
| 20 | MP0005023_abnormal_wound_healing | 1.76668243 |
| 21 | MP0003941_abnormal_skin_development | 1.74592200 |
| 22 | MP0004858_abnormal_nervous_system | 1.74451260 |
| 23 | MP0003566_abnormal_cell_adhesion | 1.72632150 |
| 24 | MP0005257_abnormal_intraocular_pressure | 1.68851282 |
| 25 | MP0010368_abnormal_lymphatic_system | 1.67961207 |
| 26 | MP0006054_spinal_hemorrhage | 1.64700581 |
| 27 | MP0009672_abnormal_birth_weight | 1.58792609 |
| 28 | MP0004510_myositis | 1.55404030 |
| 29 | MP0002115_abnormal_skeleton_extremities | 1.50055877 |
| 30 | MP0005390_skeleton_phenotype | 1.49669967 |
| 31 | MP0005367_renal/urinary_system_phenotyp | 1.49024396 |
| 32 | MP0000516_abnormal_urinary_system | 1.49024396 |
| 33 | MP0002249_abnormal_larynx_morphology | 1.45404038 |
| 34 | MP0000751_myopathy | 1.43476804 |
| 35 | MP0002060_abnormal_skin_morphology | 1.42888605 |
| 36 | MP0005623_abnormal_meninges_morphology | 1.37925651 |
| 37 | MP0002113_abnormal_skeleton_development | 1.37732079 |
| 38 | MP0004197_abnormal_fetal_growth/weight/ | 1.37624890 |
| 39 | MP0003646_muscle_fatigue | 1.36113024 |
| 40 | MP0005076_abnormal_cell_differentiation | 1.34852391 |
| 41 | MP0003385_abnormal_body_wall | 1.32868550 |
| 42 | MP0003121_genomic_imprinting | 1.31832345 |
| 43 | MP0001542_abnormal_bone_strength | 1.29205530 |
| 44 | MP0003755_abnormal_palate_morphology | 1.25559275 |
| 45 | MP0003119_abnormal_digestive_system | 1.23875614 |
| 46 | MP0009384_cardiac_valve_regurgitation | 1.22805846 |
| 47 | MP0003567_abnormal_fetal_cardiomyocyte | 1.21493186 |
| 48 | MP0000762_abnormal_tongue_morphology | 1.20670316 |
| 49 | MP0000750_abnormal_muscle_regeneration | 1.20519492 |
| 50 | MP0004957_abnormal_blastocyst_morpholog | 1.19971824 |
| 51 | MP0001849_ear_inflammation | 1.19904396 |
| 52 | MP0004133_heterotaxia | 1.19798069 |
| 53 | MP0000432_abnormal_head_morphology | 1.18654139 |
| 54 | MP0000049_abnormal_middle_ear | 1.17952273 |
| 55 | MP0002896_abnormal_bone_mineralization | 1.16177119 |
| 56 | MP0004233_abnormal_muscle_weight | 1.15278907 |
| 57 | MP0010094_abnormal_chromosome_stability | 1.15184385 |
| 58 | MP0002697_abnormal_eye_size | 1.15008607 |
| 59 | MP0002089_abnormal_postnatal_growth/wei | 1.14232206 |
| 60 | MP0003890_abnormal_embryonic-extraembry | 1.12645740 |
| 61 | MP0008007_abnormal_cellular_replicative | 1.11846813 |
| 62 | MP0002116_abnormal_craniofacial_bone | 1.11841298 |
| 63 | MP0002109_abnormal_limb_morphology | 1.11452161 |
| 64 | MP0003077_abnormal_cell_cycle | 1.11132877 |
| 65 | MP0002111_abnormal_tail_morphology | 1.09456756 |
| 66 | MP0003937_abnormal_limbs/digits/tail_de | 1.06973002 |
| 67 | MP0009053_abnormal_anal_canal | 1.06719092 |
| 68 | MP0003111_abnormal_nucleus_morphology | 1.05805073 |
| 69 | MP0001243_abnormal_dermal_layer | 1.05198736 |
| 70 | MP0005595_abnormal_vascular_smooth | 1.02820967 |
| 71 | MP0002932_abnormal_joint_morphology | 1.01984231 |
| 72 | MP0003283_abnormal_digestive_organ | 0.99974700 |
| 73 | MP0001177_atelectasis | 0.99857258 |
| 74 | MP0001299_abnormal_eye_distance/ | 0.99557422 |
| 75 | MP0003935_abnormal_craniofacial_develop | 0.98902757 |
| 76 | MP0009703_decreased_birth_body | 0.97425960 |
| 77 | MP0002114_abnormal_axial_skeleton | 0.96900781 |
| 78 | MP0008057_abnormal_DNA_replication | 0.96274756 |
| 79 | MP0001293_anophthalmia | 0.95481516 |
| 80 | MP0001915_intracranial_hemorrhage | 0.94139988 |
| 81 | MP0002233_abnormal_nose_morphology | 0.93826995 |
| 82 | MP0000537_abnormal_urethra_morphology | 0.91219311 |
| 83 | MP0003787_abnormal_imprinting | 0.91094198 |
| 84 | MP0003693_abnormal_embryo_hatching | 0.90065560 |
| 85 | MP0000350_abnormal_cell_proliferation | 0.89529112 |
| 86 | MP0005197_abnormal_uvea_morphology | 0.88943055 |
| 87 | MP0002332_abnormal_exercise_endurance | 0.88692493 |
| 88 | MP0005369_muscle_phenotype | 0.88522893 |
| 89 | MP0003984_embryonic_growth_retardation | 0.87659643 |
| 90 | MP0001175_abnormal_lung_morphology | 0.87500473 |
| 91 | MP0002295_abnormal_pulmonary_circulatio | 0.87202578 |
| 92 | MP0002086_abnormal_extraembryonic_tissu | 0.87067929 |
| 93 | MP0001730_embryonic_growth_arrest | 0.85885242 |
| 94 | MP0008058_abnormal_DNA_repair | 0.85860073 |
| 95 | MP0002925_abnormal_cardiovascular_devel | 0.85676479 |
| 96 | MP0001672_abnormal_embryogenesis/_devel | 0.85416745 |
| 97 | MP0005380_embryogenesis_phenotype | 0.85416745 |
| 98 | MP0002084_abnormal_developmental_patter | 0.85408517 |
| 99 | MP0002088_abnormal_embryonic_growth/wei | 0.85201632 |
| 100 | MP0001879_abnormal_lymphatic_vessel | 0.84766369 |
| 101 | MP0003115_abnormal_respiratory_system | 0.84359289 |
| 102 | MP0000733_abnormal_muscle_development | 0.84321073 |
| 103 | MP0003453_abnormal_keratinocyte_physiol | 0.84191248 |
| 104 | MP0002877_abnormal_melanocyte_morpholog | 0.84185762 |
| 105 | MP0003091_abnormal_cell_migration | 0.83794334 |
| 106 | MP0003186_abnormal_redox_activity | 0.83555418 |
| 107 | MP0002080_prenatal_lethality | 0.83329253 |
| 108 | MP0000428_abnormal_craniofacial_morphol | 0.83114357 |
| 109 | MP0008004_abnormal_stomach_pH | 0.82517383 |
| 110 | MP0000749_muscle_degeneration | 0.82103907 |
| 111 | MP0009697_abnormal_copulation | 0.81338838 |
| 112 | MP0005165_increased_susceptibility_to | 0.81312744 |
| 113 | MP0008932_abnormal_embryonic_tissue | 0.80397388 |
| 114 | MP0001286_abnormal_eye_development | 0.79705375 |
| 115 | MP0002085_abnormal_embryonic_tissue | 0.79200463 |
| 116 | MP0000534_abnormal_ureter_morphology | 0.78822075 |
| 117 | MP0003718_maternal_effect | 0.78451502 |
| 118 | MP0000343_altered_response_to | 0.77119099 |
| 119 | MP0003942_abnormal_urinary_system | 0.76794307 |
| 120 | MP0003795_abnormal_bone_structure | 0.76097466 |
| 121 | MP0004084_abnormal_cardiac_muscle | 0.76081941 |
| 122 | MP0001661_extended_life_span | 0.75183901 |
| 123 | MP0003448_altered_tumor_morphology | 0.74436752 |
| 124 | MP0010307_abnormal_tumor_latency | 0.73550254 |
| 125 | MP0005621_abnormal_cell_physiology | 0.73379944 |
| 126 | MP0008775_abnormal_heart_ventricle | 0.72762602 |
| 127 | MP0001697_abnormal_embryo_size | 0.72742110 |
| 128 | MP0000767_abnormal_smooth_muscle | 0.71586081 |
| 129 | MP0001614_abnormal_blood_vessel | 0.69350839 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Irregular epiphyses (HP:0010582) | 6.64831668 |
| 2 | Epiphyseal dysplasia (HP:0002656) | 6.51783603 |
| 3 | Vitreoretinal degeneration (HP:0000655) | 5.72815857 |
| 4 | Hypoplastic ischia (HP:0003175) | 5.19940349 |
| 5 | Small epiphyses (HP:0010585) | 4.65816479 |
| 6 | Abnormality of the ischium (HP:0003174) | 4.53895467 |
| 7 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 4.46079177 |
| 8 | Mild short stature (HP:0003502) | 4.19878671 |
| 9 | Cupped ribs (HP:0000887) | 4.19264726 |
| 10 | Protrusio acetabuli (HP:0003179) | 4.17357748 |
| 11 | Neonatal short-limb short stature (HP:0008921) | 4.14655280 |
| 12 | Flat capital femoral epiphysis (HP:0003370) | 3.90659442 |
| 13 | Metaphyseal cupping (HP:0003021) | 3.74651774 |
| 14 | Delayed epiphyseal ossification (HP:0002663) | 3.70977887 |
| 15 | Genu varum (HP:0002970) | 3.63644588 |
| 16 | Cervical subluxation (HP:0003308) | 3.51534893 |
| 17 | Abnormality of femoral epiphyses (HP:0006499) | 3.36553680 |
| 18 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 3.36553680 |
| 19 | Absent epiphyses (HP:0010577) | 3.36243769 |
| 20 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 3.36243769 |
| 21 | Abnormal tarsal ossification (HP:0008369) | 3.29631869 |
| 22 | Flat acetabular roof (HP:0003180) | 3.25919103 |
| 23 | Spastic diplegia (HP:0001264) | 3.23746355 |
| 24 | Premature rupture of membranes (HP:0001788) | 3.23503809 |
| 25 | Abnormality of dentin (HP:0010299) | 3.20050512 |
| 26 | Osteoarthritis (HP:0002758) | 3.16633433 |
| 27 | Selective tooth agenesis (HP:0001592) | 2.99972645 |
| 28 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 2.98779324 |
| 29 | Patent foramen ovale (HP:0001655) | 2.86290134 |
| 30 | Cortical dysplasia (HP:0002539) | 2.83469633 |
| 31 | Coxa vara (HP:0002812) | 2.79468997 |
| 32 | Ankle contracture (HP:0006466) | 2.79011171 |
| 33 | Abnormality of the femoral head (HP:0003368) | 2.76624220 |
| 34 | Carpal bone hypoplasia (HP:0001498) | 2.75887499 |
| 35 | Limited hip movement (HP:0008800) | 2.75133601 |
| 36 | Flattened epiphyses (HP:0003071) | 2.74325686 |
| 37 | Osteolytic defects of the hand bones (HP:0009699) | 2.71617760 |
| 38 | Osteolytic defects of the phalanges of the hand (HP:0009771) | 2.71617760 |
| 39 | Platyspondyly (HP:0000926) | 2.71417964 |
| 40 | Bladder diverticulum (HP:0000015) | 2.71017106 |
| 41 | Hip contracture (HP:0003273) | 2.70425462 |
| 42 | Arthropathy (HP:0003040) | 2.67391060 |
| 43 | Atrophic scars (HP:0001075) | 2.65075809 |
| 44 | Abnormal vertebral ossification (HP:0100569) | 2.63095862 |
| 45 | Abnormal foot bone ossification (HP:0010675) | 2.61702227 |
| 46 | Abnormality of the proximal phalanges of the hand (HP:0009834) | 2.61068852 |
| 47 | Mitral valve prolapse (HP:0001634) | 2.60822552 |
| 48 | Abnormality of the vertebral endplates (HP:0005106) | 2.58732195 |
| 49 | Vascular tortuosity (HP:0004948) | 2.58490041 |
| 50 | Arterial tortuosity (HP:0005116) | 2.56453635 |
| 51 | Abnormality of the pubic bones (HP:0003172) | 2.52531043 |
| 52 | Type 1 muscle fiber predominance (HP:0003803) | 2.52029814 |
| 53 | Abnormality of the phalanges of the 2nd finger (HP:0009541) | 2.51213615 |
| 54 | Metaphyseal dysplasia (HP:0100255) | 2.50069668 |
| 55 | Nuclear cataract (HP:0100018) | 2.46503092 |
| 56 | Soft skin (HP:0000977) | 2.41756285 |
| 57 | Increased connective tissue (HP:0009025) | 2.41063488 |
| 58 | Mesomelia (HP:0003027) | 2.39838206 |
| 59 | Short femoral neck (HP:0100864) | 2.39269377 |
| 60 | Bowel diverticulosis (HP:0005222) | 2.37275977 |
| 61 | Thin ribs (HP:0000883) | 2.36330307 |
| 62 | Ectopia lentis (HP:0001083) | 2.36294638 |
| 63 | Genu recurvatum (HP:0002816) | 2.34632665 |
| 64 | Broad long bones (HP:0005622) | 2.34412182 |
| 65 | Broad phalanx (HP:0006009) | 2.33858352 |
| 66 | Beaking of vertebral bodies (HP:0004568) | 2.33514885 |
| 67 | Limited elbow extension (HP:0001377) | 2.33226330 |
| 68 | Septo-optic dysplasia (HP:0100842) | 2.32293706 |
| 69 | Protruding ear (HP:0000411) | 2.30748504 |
| 70 | Choanal stenosis (HP:0000452) | 2.30393827 |
| 71 | Slender build (HP:0001533) | 2.28558543 |
| 72 | Irregular vertebral endplates (HP:0003301) | 2.28321404 |
| 73 | Shoulder girdle muscle weakness (HP:0003547) | 2.25720684 |
| 74 | Vertebral clefting (HP:0008428) | 2.24804674 |
| 75 | Limb-girdle muscle weakness (HP:0003325) | 2.24121657 |
| 76 | Arnold-Chiari malformation (HP:0002308) | 2.23586280 |
| 77 | Pterygium (HP:0001059) | 2.23344246 |
| 78 | Abnormality of the acetabulum (HP:0003170) | 2.22872276 |
| 79 | Hypoplasia of the odontoid process (HP:0003311) | 2.22390772 |
| 80 | Fragile skin (HP:0001030) | 2.20445487 |
| 81 | Wrist flexion contracture (HP:0001239) | 2.18759002 |
| 82 | Fibular hypoplasia (HP:0003038) | 2.18735984 |
| 83 | Glossoptosis (HP:0000162) | 2.18362160 |
| 84 | Absent frontal sinuses (HP:0002688) | 2.18339880 |
| 85 | Generalized amyotrophy (HP:0003700) | 2.17356727 |
| 86 | Wormian bones (HP:0002645) | 2.16869247 |
| 87 | Vertebral hypoplasia (HP:0008417) | 2.16209587 |
| 88 | Aplasia/Hypoplasia of the vertebrae (HP:0008515) | 2.16209587 |
| 89 | Biconcave vertebral bodies (HP:0004586) | 2.16025780 |
| 90 | Follicular hyperkeratosis (HP:0007502) | 2.15183151 |
| 91 | Spinal rigidity (HP:0003306) | 2.14565134 |
| 92 | Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108) | 2.13000149 |
| 93 | Lower limb amyotrophy (HP:0007210) | 2.12801075 |
| 94 | Cerebral aneurysm (HP:0004944) | 2.08872838 |
| 95 | Stillbirth (HP:0003826) | 2.08523999 |
| 96 | Broad metatarsal (HP:0001783) | 2.08275540 |
| 97 | Coronal craniosynostosis (HP:0004440) | 2.06362630 |
| 98 | Distal lower limb muscle weakness (HP:0009053) | 2.04927638 |
| 99 | Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376) | 2.04320441 |
| 100 | Thoracolumbar scoliosis (HP:0002944) | 2.04125427 |
| 101 | Fused cervical vertebrae (HP:0002949) | 2.03165279 |
| 102 | Pulmonary artery stenosis (HP:0004415) | 2.03115705 |
| 103 | Micromelia (HP:0002983) | 2.02603164 |
| 104 | Long clavicles (HP:0000890) | 2.02236566 |
| 105 | Delayed cranial suture closure (HP:0000270) | 2.02221801 |
| 106 | Abnormal delivery (HP:0001787) | 2.01362100 |
| 107 | Aortic aneurysm (HP:0004942) | 2.00797724 |
| 108 | Abnormality of the umbilical cord (HP:0010881) | 2.00739523 |
| 109 | Aplasia/Hypoplasia of the breasts (HP:0010311) | 2.00518139 |
| 110 | Ependymoma (HP:0002888) | 1.97458001 |
| 111 | Lumbar hyperlordosis (HP:0002938) | 1.97165571 |
| 112 | Broad thumb (HP:0011304) | 1.96775372 |
| 113 | Turricephaly (HP:0000262) | 1.95664328 |
| 114 | Broad phalanges of the hand (HP:0009768) | 1.95213891 |
| 115 | Aortic dissection (HP:0002647) | 1.94961809 |
| 116 | Abnormality of carpal bone ossification (HP:0006257) | 1.94585715 |
| 117 | Muscle fiber splitting (HP:0003555) | 1.94439633 |
| 118 | Myocardial infarction (HP:0001658) | 1.93611660 |
| 119 | Sprengel anomaly (HP:0000912) | 1.93100069 |
| 120 | Shallow orbits (HP:0000586) | 1.92619827 |
| 121 | Mildly elevated creatine phosphokinase (HP:0008180) | 1.92356774 |
| 122 | Hyperextensible skin (HP:0000974) | 1.91986279 |
| 123 | Abnormality of the hip-girdle musculature (HP:0001445) | 1.91482783 |
| 124 | Abnormality of the musculature of the pelvis (HP:0001469) | 1.91482783 |
| 125 | Natal tooth (HP:0000695) | 1.91279968 |
| 126 | Vertebral compression fractures (HP:0002953) | 1.90890875 |
| 127 | Abnormality of the odontoid process (HP:0003310) | 1.90615571 |
| 128 | Colon cancer (HP:0003003) | 1.88791130 |
| 129 | Ovoid vertebral bodies (HP:0003300) | 1.88598123 |
| 130 | Metaphyseal irregularity (HP:0003025) | 1.88398358 |
| 131 | Short nail (HP:0001799) | 1.87993956 |
| 132 | Joint laxity (HP:0001388) | 1.87951570 |
| 133 | Hypoventilation (HP:0002791) | 1.87769642 |
| 134 | Barrel-shaped chest (HP:0001552) | 1.87268606 |
| 135 | Broad finger (HP:0001500) | 1.86935102 |
| 136 | Waddling gait (HP:0002515) | 1.86503738 |
| 137 | Breast aplasia (HP:0100783) | 1.85899507 |
| 138 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.85596127 |
| 139 | Aplasia/Hypoplasia involving the carpal bones (HP:0006502) | 1.85094918 |
| 140 | Relative macrocephaly (HP:0004482) | 1.84972039 |
| 141 | Abnormal number of incisors (HP:0011064) | 1.84530101 |
| 142 | Blue sclerae (HP:0000592) | 1.83860904 |
| 143 | Broad palm (HP:0001169) | 1.83364692 |
| 144 | Breech presentation (HP:0001623) | 1.83228765 |
| 145 | Hand muscle atrophy (HP:0009130) | 1.82562338 |
| 146 | Abnormality of incisor morphology (HP:0011063) | 1.82434393 |
| 147 | Spinal cord compression (HP:0002176) | 1.81959538 |
| 148 | Distal upper limb amyotrophy (HP:0007149) | 1.81467748 |
| 149 | Upper limb amyotrophy (HP:0009129) | 1.81467748 |
| 150 | Joint stiffness (HP:0001387) | 1.81396224 |
| 151 | Overgrowth (HP:0001548) | 1.80621725 |
| 152 | Abnormal ossification of hand bones (HP:0005921) | 1.80200140 |
| 153 | Aplasia/Hypoplasia involving the vertebral column (HP:0008518) | 1.79279952 |
| 154 | Calcaneovalgus deformity (HP:0001848) | 1.78797927 |
| 155 | Aplasia involving bones of the extremities (HP:0009825) | 1.78434827 |
| 156 | Aplasia involving bones of the upper limbs (HP:0009823) | 1.78434827 |
| 157 | Aplasia of the phalanges of the hand (HP:0009802) | 1.78434827 |
| 158 | Stenosis of the external auditory canal (HP:0000402) | 1.78064993 |
| 159 | Pelvic girdle muscle weakness (HP:0003749) | 1.77852373 |
| 160 | Renal duplication (HP:0000075) | 1.77710141 |
| 161 | Facial cleft (HP:0002006) | 1.76469580 |
| 162 | Elbow flexion contracture (HP:0002987) | 1.75843714 |
| 163 | Bifid tongue (HP:0010297) | 1.74048560 |
| 164 | Increased variability in muscle fiber diameter (HP:0003557) | 1.73951349 |
| 165 | Upper limb muscle weakness (HP:0003484) | 1.72936733 |
| 166 | Dilatation of the ascending aorta (HP:0005111) | 1.71542813 |
| 167 | Short hallux (HP:0010109) | 1.70706325 |
| 168 | Overriding aorta (HP:0002623) | 1.69729298 |
| 169 | Abnormal lung lobation (HP:0002101) | 1.67857711 |
| 170 | Abnormality of the labia minora (HP:0012880) | 1.67279979 |
| 171 | Microglossia (HP:0000171) | 1.66888108 |
| 172 | Spinal cord lesions (HP:0100561) | 1.66545672 |
| 173 | Syringomyelia (HP:0003396) | 1.66545672 |
| 174 | Ulnar bowing (HP:0003031) | 1.66419338 |
| 175 | Maternal diabetes (HP:0009800) | 1.65996148 |
| 176 | Deformed tarsal bones (HP:0008119) | 1.65041359 |
| 177 | Bronchomalacia (HP:0002780) | 1.64957878 |
| 178 | Kyphoscoliosis (HP:0002751) | 1.64361280 |
| 179 | Long palpebral fissure (HP:0000637) | 1.63539779 |
| 180 | Nephroblastoma (Wilms tumor) (HP:0002667) | 1.63467285 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | DDR2 | 4.86366269 |
| 2 | STK38L | 3.71370352 |
| 3 | MAP3K3 | 3.31770404 |
| 4 | TSSK6 | 2.86632212 |
| 5 | ACVR1B | 2.73180731 |
| 6 | TGFBR1 | 2.69785709 |
| 7 | EPHA2 | 2.67481217 |
| 8 | LATS1 | 2.57434337 |
| 9 | NME2 | 2.50424103 |
| 10 | CDK12 | 2.45960922 |
| 11 | VRK2 | 2.39307518 |
| 12 | CDC7 | 2.28725302 |
| 13 | AKT3 | 2.09511647 |
| 14 | LATS2 | 2.08595659 |
| 15 | PBK | 2.07520520 |
| 16 | TNIK | 2.06590689 |
| 17 | PDK2 | 1.96985563 |
| 18 | STK24 | 1.96277244 |
| 19 | MKNK2 | 1.91119843 |
| 20 | MOS | 1.83218543 |
| 21 | PTK2 | 1.83084196 |
| 22 | NTRK1 | 1.81032471 |
| 23 | ERBB3 | 1.80122169 |
| 24 | ZAK | 1.78908881 |
| 25 | IRAK3 | 1.75976438 |
| 26 | MKNK1 | 1.62654509 |
| 27 | TESK1 | 1.60335998 |
| 28 | LMTK2 | 1.59144934 |
| 29 | TAF1 | 1.55399665 |
| 30 | WEE1 | 1.54932093 |
| 31 | EPHA3 | 1.54424270 |
| 32 | BUB1 | 1.53792580 |
| 33 | PDGFRA | 1.52182612 |
| 34 | PIM2 | 1.51385106 |
| 35 | PLK2 | 1.50764180 |
| 36 | PLK4 | 1.48293826 |
| 37 | BMPR1B | 1.44722081 |
| 38 | NEK1 | 1.41865396 |
| 39 | STK3 | 1.39751603 |
| 40 | MET | 1.38623854 |
| 41 | PLK3 | 1.37684928 |
| 42 | ERBB4 | 1.33225171 |
| 43 | MST4 | 1.32820879 |
| 44 | CLK1 | 1.32313444 |
| 45 | BRD4 | 1.26120249 |
| 46 | CDK7 | 1.25455158 |
| 47 | RPS6KB2 | 1.20033293 |
| 48 | ABL2 | 1.11881735 |
| 49 | MELK | 1.09983574 |
| 50 | TTK | 1.09399900 |
| 51 | PAK4 | 1.07106165 |
| 52 | PRKG2 | 1.06321745 |
| 53 | PIM1 | 1.02369756 |
| 54 | PASK | 1.00955614 |
| 55 | BCR | 1.00538257 |
| 56 | TTN | 0.99470605 |
| 57 | ARAF | 0.98949936 |
| 58 | MAP3K6 | 0.97080477 |
| 59 | NME1 | 0.94966054 |
| 60 | EPHB2 | 0.94902718 |
| 61 | EIF2AK3 | 0.94047372 |
| 62 | TGFBR2 | 0.89413909 |
| 63 | TRIM28 | 0.87909016 |
| 64 | BMX | 0.87740878 |
| 65 | ATR | 0.83942456 |
| 66 | DYRK3 | 0.83820373 |
| 67 | EIF2AK1 | 0.83809580 |
| 68 | TRPM7 | 0.82749923 |
| 69 | PLK1 | 0.82532619 |
| 70 | PRPF4B | 0.82265053 |
| 71 | NEK6 | 0.82263338 |
| 72 | TAOK2 | 0.82168104 |
| 73 | SMG1 | 0.82081332 |
| 74 | SRPK1 | 0.80447618 |
| 75 | RPS6KA4 | 0.80417577 |
| 76 | TIE1 | 0.75351332 |
| 77 | CHEK1 | 0.75032553 |
| 78 | CDK18 | 0.74614619 |
| 79 | CDK15 | 0.71437191 |
| 80 | MAP3K9 | 0.69701388 |
| 81 | BRAF | 0.66991937 |
| 82 | EPHB1 | 0.66199550 |
| 83 | CDK11A | 0.65827777 |
| 84 | BRSK1 | 0.65474022 |
| 85 | FGFR1 | 0.65202269 |
| 86 | MTOR | 0.65002103 |
| 87 | EIF2AK2 | 0.64259610 |
| 88 | CSNK1G1 | 0.63912789 |
| 89 | CDK14 | 0.63692406 |
| 90 | AURKB | 0.63672072 |
| 91 | DMPK | 0.63487713 |
| 92 | GSK3A | 0.62383681 |
| 93 | DYRK1A | 0.61709167 |
| 94 | PRKD3 | 0.60759175 |
| 95 | NLK | 0.59215986 |
| 96 | CHEK2 | 0.59033394 |
| 97 | FER | 0.58859785 |
| 98 | ALK | 0.58564959 |
| 99 | BRSK2 | 0.57895237 |
| 100 | ROCK2 | 0.57535136 |
| 101 | PAK6 | 0.57263672 |
| 102 | MAPK1 | 0.55847337 |
| 103 | DYRK2 | 0.55133949 |
| 104 | PDGFRB | 0.54652016 |
| 105 | LIMK1 | 0.54590107 |
| 106 | ATM | 0.54547662 |
| 107 | PAK1 | 0.52736378 |
| 108 | ROCK1 | 0.51306152 |
| 109 | CDK2 | 0.50934617 |
| 110 | TESK2 | 0.50866428 |
| 111 | PAK2 | 0.50277343 |
| 112 | DAPK3 | 0.48801502 |
| 113 | STK16 | 0.48791328 |
| 114 | MAPK7 | 0.47223567 |
| 115 | TYRO3 | 0.46544407 |
| 116 | PDK3 | 0.44782571 |
| 117 | PDK4 | 0.44782571 |
| 118 | CDK6 | 0.44290285 |
| 119 | OBSCN | 0.43587891 |
| 120 | DAPK1 | 0.42546276 |
| 121 | FLT3 | 0.42219795 |
| 122 | CHUK | 0.41327734 |
| 123 | AKT1 | 0.40905242 |
| 124 | MYLK | 0.40088728 |
| 125 | CDK1 | 0.39993913 |
| 126 | CSNK1G2 | 0.39885071 |
| 127 | STK4 | 0.39818945 |
| 128 | YES1 | 0.39481086 |
| 129 | CSNK1G3 | 0.39072245 |
| 130 | NEK2 | 0.38996282 |
| 131 | RIPK1 | 0.37516572 |
| 132 | CAMK1G | 0.35022690 |
| 133 | CDC42BPA | 0.35006008 |
| 134 | MAP2K3 | 0.34505464 |
| 135 | CSNK1A1L | 0.34284788 |
| 136 | CDK4 | 0.30298255 |
| 137 | MAP3K8 | 0.30108210 |
| 138 | MAPKAPK3 | 0.29555478 |
| 139 | VRK1 | 0.29067805 |
| 140 | STK10 | 0.28698981 |
| 141 | CSNK1D | 0.28693409 |
| 142 | AURKA | 0.28189964 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | ECM-receptor interaction_Homo sapiens_hsa04512 | 4.19768196 |
| 2 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 3.20095214 |
| 3 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 3.16693887 |
| 4 | One carbon pool by folate_Homo sapiens_hsa00670 | 2.97324895 |
| 5 | Protein digestion and absorption_Homo sapiens_hsa04974 | 2.95743726 |
| 6 | Mismatch repair_Homo sapiens_hsa03430 | 2.71396756 |
| 7 | DNA replication_Homo sapiens_hsa03030 | 2.68071713 |
| 8 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 2.52826325 |
| 9 | RNA transport_Homo sapiens_hsa03013 | 2.27179849 |
| 10 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 2.13869026 |
| 11 | Malaria_Homo sapiens_hsa05144 | 2.05779040 |
| 12 | Basal cell carcinoma_Homo sapiens_hsa05217 | 2.00684193 |
| 13 | Cell cycle_Homo sapiens_hsa04110 | 1.99700305 |
| 14 | Focal adhesion_Homo sapiens_hsa04510 | 1.98069332 |
| 15 | Hippo signaling pathway_Homo sapiens_hsa04390 | 1.96573775 |
| 16 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.86992730 |
| 17 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.86881283 |
| 18 | Spliceosome_Homo sapiens_hsa03040 | 1.86131567 |
| 19 | Base excision repair_Homo sapiens_hsa03410 | 1.85523192 |
| 20 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.84924797 |
| 21 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 1.80406599 |
| 22 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.78534829 |
| 23 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 1.68763793 |
| 24 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 1.68004788 |
| 25 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 1.63079504 |
| 26 | RNA polymerase_Homo sapiens_hsa03020 | 1.60558689 |
| 27 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.57054275 |
| 28 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 1.54556454 |
| 29 | * Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 1.52637298 |
| 30 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 1.50626309 |
| 31 | p53 signaling pathway_Homo sapiens_hsa04115 | 1.43770679 |
| 32 | Adherens junction_Homo sapiens_hsa04520 | 1.43580684 |
| 33 | Homologous recombination_Homo sapiens_hsa03440 | 1.37478345 |
| 34 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 1.37348303 |
| 35 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 1.37171158 |
| 36 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 1.30617876 |
| 37 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.26990972 |
| 38 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 1.25664564 |
| 39 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.25474787 |
| 40 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.20793209 |
| 41 | Proteasome_Homo sapiens_hsa03050 | 1.14635182 |
| 42 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 1.11578557 |
| 43 | Basal transcription factors_Homo sapiens_hsa03022 | 1.11481183 |
| 44 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 1.11351588 |
| 45 | Small cell lung cancer_Homo sapiens_hsa05222 | 1.10610758 |
| 46 | Prion diseases_Homo sapiens_hsa05020 | 1.08144519 |
| 47 | HTLV-I infection_Homo sapiens_hsa05166 | 1.07596994 |
| 48 | Carbon metabolism_Homo sapiens_hsa01200 | 1.03869774 |
| 49 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.02596200 |
| 50 | Legionellosis_Homo sapiens_hsa05134 | 1.02111002 |
| 51 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 1.01991360 |
| 52 | RNA degradation_Homo sapiens_hsa03018 | 1.01163103 |
| 53 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.98536584 |
| 54 | Bladder cancer_Homo sapiens_hsa05219 | 0.98471119 |
| 55 | Pathways in cancer_Homo sapiens_hsa05200 | 0.95823735 |
| 56 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.95562729 |
| 57 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.95127428 |
| 58 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.95063095 |
| 59 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.95017246 |
| 60 | Melanoma_Homo sapiens_hsa05218 | 0.92774724 |
| 61 | Amoebiasis_Homo sapiens_hsa05146 | 0.92527827 |
| 62 | Viral myocarditis_Homo sapiens_hsa05416 | 0.90864860 |
| 63 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.87959728 |
| 64 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.87254510 |
| 65 | Galactose metabolism_Homo sapiens_hsa00052 | 0.85582929 |
| 66 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.85106384 |
| 67 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.84684206 |
| 68 | Colorectal cancer_Homo sapiens_hsa05210 | 0.82282748 |
| 69 | TNF signaling pathway_Homo sapiens_hsa04668 | 0.79485565 |
| 70 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.77176227 |
| 71 | Shigellosis_Homo sapiens_hsa05131 | 0.74717650 |
| 72 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.73682679 |
| 73 | Tight junction_Homo sapiens_hsa04530 | 0.70310999 |
| 74 | Prostate cancer_Homo sapiens_hsa05215 | 0.69564933 |
| 75 | Purine metabolism_Homo sapiens_hsa00230 | 0.69109071 |
| 76 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 0.68590129 |
| 77 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.67558157 |
| 78 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.67203973 |
| 79 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.67198739 |
| 80 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 0.66326136 |
| 81 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.66188383 |
| 82 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.63617274 |
| 83 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.61204852 |
| 84 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.60728484 |
| 85 | Ribosome_Homo sapiens_hsa03010 | 0.59847685 |
| 86 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.59765629 |
| 87 | Axon guidance_Homo sapiens_hsa04360 | 0.57015467 |
| 88 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.56019390 |
| 89 | Salmonella infection_Homo sapiens_hsa05132 | 0.53495288 |
| 90 | Thyroid cancer_Homo sapiens_hsa05216 | 0.52724575 |
| 91 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.52410345 |
| 92 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.51231144 |
| 93 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.48338263 |
| 94 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 0.48235837 |
| 95 | Apoptosis_Homo sapiens_hsa04210 | 0.47864636 |
| 96 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 0.46978519 |
| 97 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.46274416 |
| 98 | Mineral absorption_Homo sapiens_hsa04978 | 0.45741611 |
| 99 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.43232647 |
| 100 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.43217666 |
| 101 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.43211456 |
| 102 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.43112210 |
| 103 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.41738740 |
| 104 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.41183660 |
| 105 | FoxO signaling pathway_Homo sapiens_hsa04068 | 0.40535574 |
| 106 | Gap junction_Homo sapiens_hsa04540 | 0.39668276 |
| 107 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.39019305 |
| 108 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.37339367 |
| 109 | Lysine degradation_Homo sapiens_hsa00310 | 0.36561198 |
| 110 | * Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.35725727 |
| 111 | Hepatitis B_Homo sapiens_hsa05161 | 0.35660747 |
| 112 | African trypanosomiasis_Homo sapiens_hsa05143 | 0.35567493 |
| 113 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.34876836 |
| 114 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.34000936 |
| 115 | Protein export_Homo sapiens_hsa03060 | 0.33784126 |
| 116 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 0.33482323 |
| 117 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.32776579 |
| 118 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.30305485 |
| 119 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.29181611 |
| 120 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.29177029 |
| 121 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.28963120 |
| 122 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.28758809 |
| 123 | Melanogenesis_Homo sapiens_hsa04916 | 0.28098965 |
| 124 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 0.27865329 |
| 125 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.26146339 |
| 126 | Phagosome_Homo sapiens_hsa04145 | 0.26145977 |
| 127 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.25077927 |
| 128 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.24519303 |
| 129 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 0.24491037 |
| 130 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.23355635 |

