

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | collagen fibril organization (GO:0030199) | 5.61399489 |
| 2 | protein retention in ER lumen (GO:0006621) | 5.39516204 |
| 3 | maintenance of protein localization in endoplasmic reticulum (GO:0035437) | 5.38315699 |
| 4 | regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547) | 4.48449666 |
| 5 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 4.45248229 |
| 6 | chondrocyte development (GO:0002063) | 4.43818694 |
| 7 | protein heterotrimerization (GO:0070208) | 4.42315651 |
| 8 | acrosome reaction (GO:0007340) | 4.35033153 |
| 9 | chondrocyte proliferation (GO:0035988) | 4.21124572 |
| 10 | limb bud formation (GO:0060174) | 4.12117033 |
| 11 | bone trabecula formation (GO:0060346) | 4.09882259 |
| 12 | COPI coating of Golgi vesicle (GO:0048205) | 4.01985538 |
| 13 | Golgi transport vesicle coating (GO:0048200) | 4.01985538 |
| 14 | retina vasculature morphogenesis in camera-type eye (GO:0061299) | 3.99089303 |
| 15 | * peptidyl-proline hydroxylation (GO:0019511) | 3.96003374 |
| 16 | regulation of vascular endothelial growth factor signaling pathway (GO:1900746) | 3.84684467 |
| 17 | sequestering of extracellular ligand from receptor (GO:0035581) | 3.67107146 |
| 18 | fusion of sperm to egg plasma membrane (GO:0007342) | 3.64616234 |
| 19 | collagen catabolic process (GO:0030574) | 3.60980220 |
| 20 | collagen metabolic process (GO:0032963) | 3.60798237 |
| 21 | COPII vesicle coating (GO:0048208) | 3.59293575 |
| 22 | cartilage condensation (GO:0001502) | 3.52635882 |
| 23 | cell aggregation (GO:0098743) | 3.52635882 |
| 24 | skin morphogenesis (GO:0043589) | 3.41620523 |
| 25 | response to pheromone (GO:0019236) | 3.40591716 |
| 26 | endodermal cell differentiation (GO:0035987) | 3.39505211 |
| 27 | multicellular organismal macromolecule metabolic process (GO:0044259) | 3.38640171 |
| 28 | basement membrane organization (GO:0071711) | 3.36865080 |
| 29 | negative regulation of cardiac muscle cell apoptotic process (GO:0010667) | 3.30818579 |
| 30 | multicellular organismal catabolic process (GO:0044243) | 3.30604346 |
| 31 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 3.29457686 |
| 32 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 3.29457686 |
| 33 | type B pancreatic cell proliferation (GO:0044342) | 3.25982806 |
| 34 | regulation of branching involved in salivary gland morphogenesis (GO:0060693) | 3.25636280 |
| 35 | short-term memory (GO:0007614) | 3.23862824 |
| 36 | sperm motility (GO:0030317) | 3.22431875 |
| 37 | extracellular matrix disassembly (GO:0022617) | 3.21311196 |
| 38 | * protein hydroxylation (GO:0018126) | 3.19726746 |
| 39 | multicellular organismal metabolic process (GO:0044236) | 3.18618432 |
| 40 | mesenchymal-epithelial cell signaling (GO:0060638) | 3.18506618 |
| 41 | regulation of cardioblast differentiation (GO:0051890) | 3.17955489 |
| 42 | extracellular regulation of signal transduction (GO:1900115) | 3.15324457 |
| 43 | extracellular negative regulation of signal transduction (GO:1900116) | 3.15324457 |
| 44 | positive regulation of protein kinase C signaling (GO:0090037) | 3.12066295 |
| 45 | cell migration involved in heart development (GO:0060973) | 3.11116855 |
| 46 | neural crest cell development (GO:0014032) | 3.08856232 |
| 47 | actin filament depolymerization (GO:0030042) | 3.08002474 |
| 48 | plasma membrane fusion (GO:0045026) | 3.05628371 |
| 49 | substrate-dependent cell migration (GO:0006929) | 3.04401444 |
| 50 | glomerular visceral epithelial cell development (GO:0072015) | 3.03616805 |
| 51 | sperm capacitation (GO:0048240) | 3.00979953 |
| 52 | wound healing, spreading of epidermal cells (GO:0035313) | 3.00948737 |
| 53 | endothelial cell morphogenesis (GO:0001886) | 2.98092493 |
| 54 | tooth mineralization (GO:0034505) | 2.96317186 |
| 55 | negative regulation of striated muscle cell apoptotic process (GO:0010664) | 2.96001891 |
| 56 | positive regulation of cartilage development (GO:0061036) | 2.93655590 |
| 57 | glomerular basement membrane development (GO:0032836) | 2.93586105 |
| 58 | cartilage morphogenesis (GO:0060536) | 2.92933283 |
| 59 | extracellular matrix organization (GO:0030198) | 2.90075971 |
| 60 | extracellular structure organization (GO:0043062) | 2.88796090 |
| 61 | polarized epithelial cell differentiation (GO:0030859) | 2.88235215 |
| 62 | keratan sulfate catabolic process (GO:0042340) | 2.86590883 |
| 63 | extracellular fibril organization (GO:0043206) | 2.85885275 |
| 64 | regulation of plasminogen activation (GO:0010755) | 2.84565151 |
| 65 | glomerular epithelial cell development (GO:0072310) | 2.83273027 |
| 66 | negative regulation of stem cell proliferation (GO:2000647) | 2.83221159 |
| 67 | atrioventricular valve morphogenesis (GO:0003181) | 2.79375430 |
| 68 | lateral sprouting from an epithelium (GO:0060601) | 2.78799427 |
| 69 | branching involved in salivary gland morphogenesis (GO:0060445) | 2.78467773 |
| 70 | lung vasculature development (GO:0060426) | 2.77980729 |
| 71 | extracellular matrix assembly (GO:0085029) | 2.77854629 |
| 72 | peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800) | 2.77819683 |
| 73 | kidney mesenchyme development (GO:0072074) | 2.76500117 |
| 74 | endothelial cell chemotaxis (GO:0035767) | 2.76158929 |
| 75 | hemidesmosome assembly (GO:0031581) | 2.76082803 |
| 76 | endochondral ossification (GO:0001958) | 2.75709473 |
| 77 | replacement ossification (GO:0036075) | 2.75709473 |
| 78 | cell-substrate junction assembly (GO:0007044) | 2.75653072 |
| 79 | fibril organization (GO:0097435) | 2.75207724 |
| 80 | negative regulation of chondrocyte differentiation (GO:0032331) | 2.75159961 |
| 81 | regulation of metalloenzyme activity (GO:0048552) | 2.73367554 |
| 82 | endocardial cushion development (GO:0003197) | 2.73048132 |
| 83 | mesenchymal cell proliferation (GO:0010463) | 2.71264231 |
| 84 | coenzyme catabolic process (GO:0009109) | 2.71049219 |
| 85 | regulation of extracellular matrix disassembly (GO:0010715) | 2.70650908 |
| 86 | dermatan sulfate biosynthetic process (GO:0030208) | 2.69364871 |
| 87 | cellular response to vitamin (GO:0071295) | 2.69252119 |
| 88 | cartilage development (GO:0051216) | 2.69015018 |
| 89 | cell adhesion mediated by integrin (GO:0033627) | 2.67923334 |
| 90 | apoptotic cell clearance (GO:0043277) | 2.67502642 |
| 91 | sympathetic nervous system development (GO:0048485) | 2.66343665 |
| 92 | cell migration involved in sprouting angiogenesis (GO:0002042) | 2.65390303 |
| 93 | hyaluronan catabolic process (GO:0030214) | 2.64587156 |
| 94 | mesodermal cell differentiation (GO:0048333) | 2.63585877 |
| 95 | positive regulation of osteoblast proliferation (GO:0033690) | 2.63359549 |
| 96 | sexual reproduction (GO:0019953) | 2.62441775 |
| 97 | cochlea morphogenesis (GO:0090103) | 2.60998860 |
| 98 | regulation of apoptotic process involved in morphogenesis (GO:1902337) | 2.60415204 |
| 99 | cellular response to vitamin D (GO:0071305) | 2.59391515 |
| 100 | membrane protein ectodomain proteolysis (GO:0006509) | 2.58905018 |
| 101 | binding of sperm to zona pellucida (GO:0007339) | 2.58764126 |
| 102 | smooth muscle tissue development (GO:0048745) | 2.57059354 |
| 103 | regulation of transforming growth factor beta2 production (GO:0032909) | 2.56695321 |
| 104 | establishment of tissue polarity (GO:0007164) | 2.56470101 |
| 105 | establishment of planar polarity (GO:0001736) | 2.56470101 |
| 106 | chromosome condensation (GO:0030261) | 2.55483878 |
| 107 | substrate adhesion-dependent cell spreading (GO:0034446) | 2.55355207 |
| 108 | cardiac epithelial to mesenchymal transition (GO:0060317) | 2.54866149 |
| 109 | negative regulation of cartilage development (GO:0061037) | 2.53740537 |
| 110 | embryonic skeletal joint morphogenesis (GO:0060272) | 2.53291177 |
| 111 | regulation of type B pancreatic cell apoptotic process (GO:2000674) | 2.52107959 |
| 112 | plasma membrane repair (GO:0001778) | 2.52027802 |
| 113 | regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307) | 2.51441136 |
| 114 | UDP-N-acetylglucosamine metabolic process (GO:0006047) | 2.48579493 |
| 115 | wound healing, spreading of cells (GO:0044319) | 2.47456539 |
| 116 | regulation of cartilage development (GO:0061035) | 2.46446646 |
| 117 | metanephric mesenchyme development (GO:0072075) | 2.45526564 |
| 118 | vesicle coating (GO:0006901) | 2.45215219 |
| 119 | lung-associated mesenchyme development (GO:0060484) | 2.45158608 |
| 120 | L-serine transport (GO:0015825) | 2.45048245 |
| 121 | positive regulation of blood vessel endothelial cell migration (GO:0043536) | 2.44245079 |
| 122 | establishment of apical/basal cell polarity (GO:0035089) | 2.44162000 |
| 123 | positive regulation of chondrocyte differentiation (GO:0032332) | 2.44097550 |
| 124 | notochord development (GO:0030903) | 2.43415119 |
| 125 | response to BMP (GO:0071772) | 2.43244159 |
| 126 | cellular response to BMP stimulus (GO:0071773) | 2.43244159 |
| 127 | regulation of chondrocyte differentiation (GO:0032330) | 2.43242961 |
| 128 | mesenchymal cell development (GO:0014031) | 2.41228575 |
| 129 | response to redox state (GO:0051775) | 2.41051603 |
| 130 | embryonic cranial skeleton morphogenesis (GO:0048701) | 2.40851499 |
| 131 | desmosome organization (GO:0002934) | 2.40789430 |
| 132 | regulation of mesenchymal cell proliferation (GO:0010464) | 2.40745195 |
| 133 | DNA packaging (GO:0006323) | 2.40492918 |
| 134 | dermatan sulfate metabolic process (GO:0030205) | 2.40390057 |
| 135 | negative regulation of axon extension involved in axon guidance (GO:0048843) | 2.40255475 |
| 136 | negative regulation of embryonic development (GO:0045992) | 2.40106679 |
| 137 | negative regulation of leukocyte chemotaxis (GO:0002689) | 2.39814938 |
| 138 | venous blood vessel morphogenesis (GO:0048845) | 2.39643003 |
| 139 | positive regulation of stem cell differentiation (GO:2000738) | 2.39167075 |
| 140 | positive regulation of mesenchymal cell proliferation (GO:0002053) | 2.38099380 |
| 141 | trabecula formation (GO:0060343) | 2.36822334 |
| 142 | myoblast fusion (GO:0007520) | 2.36697094 |
| 143 | skeletal system development (GO:0001501) | 2.36068764 |
| 144 | import into cell (GO:0098657) | 2.36067750 |
| 145 | regulation of integrin-mediated signaling pathway (GO:2001044) | 2.34737411 |
| 146 | regulation of heart morphogenesis (GO:2000826) | 2.33991439 |
| 147 | negative regulation of protein localization to cell surface (GO:2000009) | 2.33647637 |
| 148 | otic vesicle formation (GO:0030916) | 2.33566298 |
| 149 | dopaminergic neuron differentiation (GO:0071542) | 2.33528420 |
| 150 | adhesion of symbiont to host cell (GO:0044650) | 2.32983296 |
| 151 | virion attachment to host cell (GO:0019062) | 2.32983296 |
| 152 | face morphogenesis (GO:0060325) | 2.32399249 |
| 153 | cardiac myofibril assembly (GO:0055003) | 2.32299832 |
| 154 | positive regulation of extracellular matrix organization (GO:1903055) | 2.31827465 |
| 155 | axon extension involved in axon guidance (GO:0048846) | 2.29056660 |
| 156 | neuron projection extension involved in neuron projection guidance (GO:1902284) | 2.29056660 |
| 157 | regulation of Wnt signaling pathway involved in heart development (GO:0003307) | 2.28241256 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 4.61145134 |
| 2 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 3.32675696 |
| 3 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 2.92070582 |
| 4 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 2.88557209 |
| 5 | * EZH2_27304074_Chip-Seq_ESCs_Mouse | 2.60593150 |
| 6 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.56214535 |
| 7 | BRD4_25478319_ChIP-Seq_HGPS_Human | 2.53748283 |
| 8 | SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 2.48825249 |
| 9 | * EZH2_18974828_ChIP-Seq_MESCs_Mouse | 2.45427385 |
| 10 | * RNF2_18974828_ChIP-Seq_MESCs_Mouse | 2.45427385 |
| 11 | SUZ12_18692474_ChIP-Seq_MEFs_Mouse | 2.44242236 |
| 12 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 2.43852775 |
| 13 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 2.41282272 |
| 14 | SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 2.38612795 |
| 15 | SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 2.36153739 |
| 16 | SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 2.28581399 |
| 17 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 2.27199964 |
| 18 | * JARID2_20075857_ChIP-Seq_MESCs_Mouse | 2.22981160 |
| 19 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 2.22071203 |
| 20 | JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 2.17399836 |
| 21 | PHC1_16625203_ChIP-ChIP_MESCs_Mouse | 2.06566079 |
| 22 | JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.97438892 |
| 23 | * BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.89616458 |
| 24 | EP300_21415370_ChIP-Seq_HL-1_Mouse | 1.88818069 |
| 25 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.86654027 |
| 26 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.84484007 |
| 27 | SMAD3_18955504_ChIP-ChIP_HaCaT_Human | 1.84373486 |
| 28 | SMAD2_18955504_ChIP-ChIP_HaCaT_Human | 1.84373486 |
| 29 | RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 1.83201395 |
| 30 | * WT1_19549856_ChIP-ChIP_CCG9911_Human | 1.80681435 |
| 31 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.80524644 |
| 32 | RNF2_27304074_Chip-Seq_ESCs_Mouse | 1.80240886 |
| 33 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.79205648 |
| 34 | * MTF2_20144788_ChIP-Seq_MESCs_Mouse | 1.77925735 |
| 35 | CJUN_26792858_Chip-Seq_BT549_Human | 1.72388964 |
| 36 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.70633221 |
| 37 | TP53_22127205_ChIP-Seq_IMR90_Human | 1.68334915 |
| 38 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.68164484 |
| 39 | TP53_20018659_ChIP-ChIP_R1E_Mouse | 1.67347173 |
| 40 | CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 1.66986740 |
| 41 | ESR1_22446102_ChIP-Seq_UTERUS_Mouse | 1.65729640 |
| 42 | ATF3_23680149_ChIP-Seq_GBM1-GSC_Human | 1.65571063 |
| 43 | * SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 1.63191523 |
| 44 | * SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.62733712 |
| 45 | TP53_16413492_ChIP-PET_HCT116_Human | 1.62290836 |
| 46 | GATA2_21666600_ChIP-Seq_HMVEC_Human | 1.60626939 |
| 47 | P63_26484246_Chip-Seq_KERATINOCYTES_Human | 1.59658419 |
| 48 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.56360798 |
| 49 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.55349425 |
| 50 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.49340267 |
| 51 | CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse | 1.47353343 |
| 52 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 1.45479127 |
| 53 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 1.43396905 |
| 54 | NRF2_20460467_ChIP-Seq_MEFs_Mouse | 1.43197556 |
| 55 | NFE2L2_20460467_ChIP-Seq_MEFs_Mouse | 1.43197556 |
| 56 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.41675431 |
| 57 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.41605712 |
| 58 | TP63_23658742_ChIP-Seq_EP156T_Human | 1.40524467 |
| 59 | SMAD_19615063_ChIP-ChIP_OVARY_Human | 1.38304911 |
| 60 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 1.35822821 |
| 61 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.33580567 |
| 62 | * UBF1/2_26484160_Chip-Seq_HMECs_Human | 1.32720127 |
| 63 | TRIM28_17542650_ChIP-ChIP_NTERA2_Human | 1.31721210 |
| 64 | VDR_22108803_ChIP-Seq_LS180_Human | 1.31159157 |
| 65 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 1.27925823 |
| 66 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.26528020 |
| 67 | TP53_23651856_ChIP-Seq_MEFs_Mouse | 1.25629316 |
| 68 | * NFIB_24661679_ChIP-Seq_LUNG_Mouse | 1.23825731 |
| 69 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.22964793 |
| 70 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.22665797 |
| 71 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.16850458 |
| 72 | * TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.16621768 |
| 73 | P300_27058665_Chip-Seq_ZR-75-30cells_Human | 1.16115155 |
| 74 | RING1B_27294783_Chip-Seq_ESCs_Mouse | 1.15819728 |
| 75 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.15757047 |
| 76 | NR1I2_20693526_ChIP-Seq_LIVER_Mouse | 1.15340365 |
| 77 | * ATF3_27146783_Chip-Seq_COLON_Human | 1.14965632 |
| 78 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.14616814 |
| 79 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.13889171 |
| 80 | * TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 1.13741793 |
| 81 | CSB_26484114_Chip-Seq_FIBROBLAST_Human | 1.13699658 |
| 82 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.12611705 |
| 83 | * UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.12308200 |
| 84 | * SOX2_20726797_ChIP-Seq_SW620_Human | 1.12268665 |
| 85 | * EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse | 1.12261426 |
| 86 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.11957738 |
| 87 | * PPARD_21283829_ChIP-Seq_MYOFIBROBLAST_Human | 1.09934926 |
| 88 | * TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.09852518 |
| 89 | * HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.09716688 |
| 90 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.08925500 |
| 91 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.08648597 |
| 92 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.08643634 |
| 93 | RING1B_27294783_Chip-Seq_NPCs_Mouse | 1.08307372 |
| 94 | P300_19829295_ChIP-Seq_ESCs_Human | 1.08222700 |
| 95 | OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.08115336 |
| 96 | ISL1_27105846_Chip-Seq_CPCs_Mouse | 1.07647895 |
| 97 | UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 1.07190838 |
| 98 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.06617769 |
| 99 | MEF2A_21415370_ChIP-Seq_HL-1_Mouse | 1.06082063 |
| 100 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 1.05033115 |
| 101 | SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.04964851 |
| 102 | SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 1.04431373 |
| 103 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 1.03859715 |
| 104 | KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.03169835 |
| 105 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.02057612 |
| 106 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.02035583 |
| 107 | * TBX20_22080862_ChIP-Seq_HEART_Mouse | 1.01985532 |
| 108 | * TBX20_22328084_ChIP-Seq_HEART_Mouse | 1.01985532 |
| 109 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.01092798 |
| 110 | * SALL4_18804426_ChIP-ChIP_XEN_Mouse | 1.00747678 |
| 111 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 0.99907204 |
| 112 | SMAD3_21741376_ChIP-Seq_HESCs_Human | 0.99781516 |
| 113 | ELK3_25401928_ChIP-Seq_HUVEC_Human | 0.98596574 |
| 114 | TET1_21490601_ChIP-Seq_MESCs_Mouse | 0.98553585 |
| 115 | CTNNB1_20460455_ChIP-Seq_HCT116_Human | 0.97312915 |
| 116 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 0.96817926 |
| 117 | FOXA2_19822575_ChIP-Seq_HepG2_Human | 0.96337327 |
| 118 | RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 0.96222013 |
| 119 | TAF15_26573619_Chip-Seq_HEK293_Human | 0.96194077 |
| 120 | TP63_22573176_ChIP-Seq_HFKS_Human | 0.95726365 |
| 121 | PPAR_26484153_Chip-Seq_NCI-H1993_Human | 0.95445434 |
| 122 | FOXO3_23340844_ChIP-Seq_DLD1_Human | 0.95300859 |
| 123 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 0.94522598 |
| 124 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 0.94406566 |
| 125 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 0.94001634 |
| 126 | ZNF274_21170338_ChIP-Seq_K562_Hela | 0.93674211 |
| 127 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 0.93474387 |
| 128 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.93358372 |
| 129 | KLF5_25053715_ChIP-Seq_YYC3_Human | 0.93286670 |
| 130 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 0.91688354 |
| 131 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.91484295 |
| 132 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 0.91440582 |
| 133 | ERG_21242973_ChIP-ChIP_JURKAT_Human | 0.91104482 |
| 134 | RNF2_27304074_Chip-Seq_NSC_Mouse | 0.91003233 |
| 135 | * NR3C1_23031785_ChIP-Seq_PC12_Mouse | 0.90277018 |
| 136 | SMC3_22415368_ChIP-Seq_MEFs_Mouse | 0.89862972 |
| 137 | WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 0.89503989 |
| 138 | SOX9_24532713_ChIP-Seq_HFSC_Mouse | 0.87452056 |
| 139 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 0.87449823 |
| 140 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 0.87000461 |
| 141 | SMAD3_22036565_ChIP-Seq_ESCs_Mouse | 0.86787390 |
| 142 | PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 0.85925179 |
| 143 | RUNX2_22187159_ChIP-Seq_PCA_Human | 0.85237549 |
| 144 | FUS_26573619_Chip-Seq_HEK293_Human | 0.84936170 |
| 145 | SA1_22415368_ChIP-Seq_MEFs_Mouse | 0.84834654 |
| 146 | LXR_22292898_ChIP-Seq_THP-1_Human | 0.84813613 |
| 147 | KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.84517887 |
| 148 | SMC1_22415368_ChIP-Seq_MEFs_Mouse | 0.84424889 |
| 149 | RXR_22158963_ChIP-Seq_LIVER_Mouse | 0.84284640 |
| 150 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 0.84259062 |
| 151 | CLOCK_20551151_ChIP-Seq_293T_Human | 0.83862736 |
| 152 | FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 0.83324112 |
| 153 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 0.82191088 |
| 154 | GATA4_25053715_ChIP-Seq_YYC3_Human | 0.80000658 |
| 155 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 0.79686175 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0008438_abnormal_cutaneous_collagen | 6.33542998 |
| 2 | MP0005503_abnormal_tendon_morphology | 4.63415714 |
| 3 | MP0005275_abnormal_skin_tensile | 4.00484902 |
| 4 | MP0004272_abnormal_basement_membrane | 3.47233600 |
| 5 | MP0009384_cardiac_valve_regurgitation | 3.28611329 |
| 6 | MP0003279_aneurysm | 3.06669932 |
| 7 | MP0005623_abnormal_meninges_morphology | 3.03185339 |
| 8 | MP0005410_abnormal_fertilization | 2.70227981 |
| 9 | MP0001958_emphysema | 2.58540194 |
| 10 | MP0009250_abnormal_appendicular_skeleto | 2.41622438 |
| 11 | MP0004134_abnormal_chest_morphology | 2.22343899 |
| 12 | MP0010368_abnormal_lymphatic_system | 2.21985608 |
| 13 | MP0000751_myopathy | 2.07114387 |
| 14 | MP0003705_abnormal_hypodermis_morpholog | 2.00629632 |
| 15 | MP0005508_abnormal_skeleton_morphology | 1.98395186 |
| 16 | MP0000762_abnormal_tongue_morphology | 1.80561740 |
| 17 | MP0004084_abnormal_cardiac_muscle | 1.79432342 |
| 18 | MP0001348_abnormal_lacrimal_gland | 1.75184026 |
| 19 | MP0002837_dystrophic_cardiac_calcinosis | 1.73278893 |
| 20 | MP0002108_abnormal_muscle_morphology | 1.72824085 |
| 21 | MP0003646_muscle_fatigue | 1.69096501 |
| 22 | MP0003385_abnormal_body_wall | 1.68790579 |
| 23 | MP0001542_abnormal_bone_strength | 1.67594359 |
| 24 | MP0002282_abnormal_trachea_morphology | 1.66554955 |
| 25 | MP0000163_abnormal_cartilage_morphology | 1.65605438 |
| 26 | MP0002295_abnormal_pulmonary_circulatio | 1.65216888 |
| 27 | MP0002896_abnormal_bone_mineralization | 1.62849029 |
| 28 | MP0005257_abnormal_intraocular_pressure | 1.57283522 |
| 29 | MP0000049_abnormal_middle_ear | 1.56043639 |
| 30 | MP0002933_joint_inflammation | 1.53511452 |
| 31 | MP0003941_abnormal_skin_development | 1.52784807 |
| 32 | MP0001299_abnormal_eye_distance/ | 1.50829240 |
| 33 | MP0009053_abnormal_anal_canal | 1.48163656 |
| 34 | MP0000566_synostosis | 1.45238986 |
| 35 | MP0003937_abnormal_limbs/digits/tail_de | 1.43121527 |
| 36 | MP0002102_abnormal_ear_morphology | 1.41587562 |
| 37 | MP0002060_abnormal_skin_morphology | 1.39975728 |
| 38 | MP0002249_abnormal_larynx_morphology | 1.39033008 |
| 39 | MP0003755_abnormal_palate_morphology | 1.37722841 |
| 40 | MP0010030_abnormal_orbit_morphology | 1.33734263 |
| 41 | MP0002115_abnormal_skeleton_extremities | 1.33212290 |
| 42 | MP0003950_abnormal_plasma_membrane | 1.31755555 |
| 43 | MP0003122_maternal_imprinting | 1.31619660 |
| 44 | MP0006138_congestive_heart_failure | 1.29034639 |
| 45 | MP0003942_abnormal_urinary_system | 1.27333513 |
| 46 | MP0008775_abnormal_heart_ventricle | 1.26000896 |
| 47 | MP0005171_absent_coat_pigmentation | 1.24419912 |
| 48 | MP0000013_abnormal_adipose_tissue | 1.24023802 |
| 49 | MP0003566_abnormal_cell_adhesion | 1.23244852 |
| 50 | MP0005360_urolithiasis | 1.17906424 |
| 51 | MP0000534_abnormal_ureter_morphology | 1.15943267 |
| 52 | MP0004484_altered_response_of | 1.15118062 |
| 53 | MP0001879_abnormal_lymphatic_vessel | 1.13934171 |
| 54 | MP0000678_abnormal_parathyroid_gland | 1.11955740 |
| 55 | MP0004858_abnormal_nervous_system | 1.10391638 |
| 56 | MP0004036_abnormal_muscle_relaxation | 1.09219230 |
| 57 | MP0002113_abnormal_skeleton_development | 1.09114136 |
| 58 | MP0002116_abnormal_craniofacial_bone | 1.07939941 |
| 59 | MP0003283_abnormal_digestive_organ | 1.07130742 |
| 60 | MP0000462_abnormal_digestive_system | 1.06459324 |
| 61 | MP0005595_abnormal_vascular_smooth | 1.06381715 |
| 62 | MP0004233_abnormal_muscle_weight | 1.05834553 |
| 63 | MP0000749_muscle_degeneration | 1.05512809 |
| 64 | MP0003091_abnormal_cell_migration | 1.04338662 |
| 65 | MP0002109_abnormal_limb_morphology | 1.04113247 |
| 66 | MP0005390_skeleton_phenotype | 1.03770645 |
| 67 | MP0000750_abnormal_muscle_regeneration | 1.02308511 |
| 68 | MP0009780_abnormal_chondrocyte_physiolo | 1.01659080 |
| 69 | MP0006054_spinal_hemorrhage | 1.00652664 |
| 70 | MP0009840_abnormal_foam_cell | 1.00649091 |
| 71 | MP0002233_abnormal_nose_morphology | 0.99940494 |
| 72 | MP0000432_abnormal_head_morphology | 0.98947659 |
| 73 | MP0005620_abnormal_muscle_contractility | 0.95194585 |
| 74 | MP0000759_abnormal_skeletal_muscle | 0.94873009 |
| 75 | MP0005369_muscle_phenotype | 0.92932944 |
| 76 | MP0003045_fibrosis | 0.92428687 |
| 77 | MP0000767_abnormal_smooth_muscle | 0.90685840 |
| 78 | MP0003935_abnormal_craniofacial_develop | 0.90216447 |
| 79 | MP0000428_abnormal_craniofacial_morphol | 0.88799044 |
| 80 | MP0002972_abnormal_cardiac_muscle | 0.88332115 |
| 81 | MP0010386_abnormal_urinary_bladder | 0.87500686 |
| 82 | MP0004145_abnormal_muscle_electrophysio | 0.87457082 |
| 83 | MP0001188_hyperpigmentation | 0.86539401 |
| 84 | MP0002932_abnormal_joint_morphology | 0.85366286 |
| 85 | MP0002234_abnormal_pharynx_morphology | 0.84974424 |
| 86 | MP0008004_abnormal_stomach_pH | 0.84781642 |
| 87 | MP0001849_ear_inflammation | 0.84037356 |
| 88 | MP0000538_abnormal_urinary_bladder | 0.83039146 |
| 89 | MP0005164_abnormal_response_to | 0.82303083 |
| 90 | MP0000467_abnormal_esophagus_morphology | 0.80275842 |
| 91 | MP0004215_abnormal_myocardial_fiber | 0.80163951 |
| 92 | MP0005023_abnormal_wound_healing | 0.79240800 |
| 93 | MP0005408_hypopigmentation | 0.78473432 |
| 94 | MP0010352_gastrointestinal_tract_polyps | 0.76478677 |
| 95 | MP0002254_reproductive_system_inflammat | 0.74340394 |
| 96 | MP0005670_abnormal_white_adipose | 0.73336092 |
| 97 | MP0002111_abnormal_tail_morphology | 0.72587814 |
| 98 | MP0000733_abnormal_muscle_development | 0.72323252 |
| 99 | MP0000003_abnormal_adipose_tissue | 0.72151069 |
| 100 | MP0002114_abnormal_axial_skeleton | 0.71943766 |
| 101 | MP0002106_abnormal_muscle_physiology | 0.70920000 |
| 102 | MP0002168_other_aberrant_phenotype | 0.69714452 |
| 103 | MP0000537_abnormal_urethra_morphology | 0.69614567 |
| 104 | MP0001614_abnormal_blood_vessel | 0.69111827 |
| 105 | MP0002269_muscular_atrophy | 0.68837571 |
| 106 | MP0002877_abnormal_melanocyte_morpholog | 0.68359429 |
| 107 | MP0002998_abnormal_bone_remodeling | 0.68128170 |
| 108 | MP0005330_cardiomyopathy | 0.67883518 |
| 109 | MP0004085_abnormal_heartbeat | 0.67526946 |
| 110 | MP0001270_distended_abdomen | 0.66970304 |
| 111 | MP0001243_abnormal_dermal_layer | 0.66402723 |
| 112 | MP0006072_abnormal_retinal_apoptosis | 0.65804996 |
| 113 | MP0004087_abnormal_muscle_fiber | 0.65699474 |
| 114 | MP0005165_increased_susceptibility_to | 0.65481438 |
| 115 | MP0005197_abnormal_uvea_morphology | 0.65476210 |
| 116 | MP0000383_abnormal_hair_follicle | 0.65286223 |
| 117 | MP0003878_abnormal_ear_physiology | 0.64086091 |
| 118 | MP0005377_hearing/vestibular/ear_phenot | 0.64086091 |
| 119 | MP0003137_abnormal_impulse_conducting | 0.63969924 |
| 120 | MP0003115_abnormal_respiratory_system | 0.63919687 |
| 121 | MP0002751_abnormal_autonomic_nervous | 0.63442116 |
| 122 | MP0010771_integument_phenotype | 0.63109931 |
| 123 | MP0005395_other_phenotype | 0.62753038 |
| 124 | MP0003191_abnormal_cellular_cholesterol | 0.61772344 |
| 125 | MP0004510_myositis | 0.61280110 |
| 126 | MP0003011_delayed_dark_adaptation | 0.58580041 |
| 127 | MP0000681_abnormal_thyroid_gland | 0.57685797 |
| 128 | MP0002128_abnormal_blood_circulation | 0.57120965 |
| 129 | MP0000747_muscle_weakness | 0.52825829 |
| 130 | MP0001915_intracranial_hemorrhage | 0.52008200 |
| 131 | MP0002177_abnormal_outer_ear | 0.50244481 |
| 132 | MP0005193_abnormal_anterior_eye | 0.49965501 |
| 133 | MP0001175_abnormal_lung_morphology | 0.49066929 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Premature rupture of membranes (HP:0001788) | 6.60419222 |
| 2 | Protrusio acetabuli (HP:0003179) | 5.39114355 |
| 3 | Epiphyseal dysplasia (HP:0002656) | 4.58941737 |
| 4 | Neonatal short-limb short stature (HP:0008921) | 4.15136908 |
| 5 | Hypoplastic ischia (HP:0003175) | 4.02643085 |
| 6 | Atrophic scars (HP:0001075) | 3.75036824 |
| 7 | Abnormality of dentin (HP:0010299) | 3.74480289 |
| 8 | Abnormality of the ischium (HP:0003174) | 3.58941579 |
| 9 | Small epiphyses (HP:0010585) | 3.55293226 |
| 10 | Soft skin (HP:0000977) | 3.42061770 |
| 11 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 3.36644422 |
| 12 | Cupped ribs (HP:0000887) | 3.35226078 |
| 13 | Irregular epiphyses (HP:0010582) | 3.26764060 |
| 14 | Aortic dissection (HP:0002647) | 3.21702652 |
| 15 | Shallow orbits (HP:0000586) | 3.07116463 |
| 16 | Wormian bones (HP:0002645) | 3.05666506 |
| 17 | Osteoarthritis (HP:0002758) | 3.00725431 |
| 18 | Cervical subluxation (HP:0003308) | 2.97314504 |
| 19 | Popliteal pterygium (HP:0009756) | 2.96772126 |
| 20 | Follicular hyperkeratosis (HP:0007502) | 2.92512073 |
| 21 | Type 1 muscle fiber predominance (HP:0003803) | 2.88777492 |
| 22 | Spondylolisthesis (HP:0003302) | 2.87231201 |
| 23 | Fragile skin (HP:0001030) | 2.83722151 |
| 24 | Vitreoretinal degeneration (HP:0000655) | 2.83080076 |
| 25 | Mitral stenosis (HP:0001718) | 2.80798235 |
| 26 | Limited hip movement (HP:0008800) | 2.75355934 |
| 27 | Spinal cord compression (HP:0002176) | 2.73985083 |
| 28 | Mild short stature (HP:0003502) | 2.73783130 |
| 29 | Ankle contracture (HP:0006466) | 2.73247380 |
| 30 | Spinal rigidity (HP:0003306) | 2.72108723 |
| 31 | Bladder diverticulum (HP:0000015) | 2.68653531 |
| 32 | Cardiovascular calcification (HP:0011915) | 2.66736630 |
| 33 | Coxa vara (HP:0002812) | 2.64573324 |
| 34 | Bell-shaped thorax (HP:0001591) | 2.64086026 |
| 35 | Delayed epiphyseal ossification (HP:0002663) | 2.64022935 |
| 36 | Genu varum (HP:0002970) | 2.62879599 |
| 37 | Broad metatarsal (HP:0001783) | 2.62571395 |
| 38 | Hip contracture (HP:0003273) | 2.50730605 |
| 39 | Flat capital femoral epiphysis (HP:0003370) | 2.50566180 |
| 40 | Short nail (HP:0001799) | 2.49955591 |
| 41 | Metaphyseal cupping (HP:0003021) | 2.49242791 |
| 42 | Dilatation of the ascending aorta (HP:0005111) | 2.49120437 |
| 43 | Abnormal tarsal ossification (HP:0008369) | 2.46396928 |
| 44 | Femoral bowing (HP:0002980) | 2.45444527 |
| 45 | Platyspondyly (HP:0000926) | 2.43447873 |
| 46 | Abnormal vertebral ossification (HP:0100569) | 2.43071476 |
| 47 | Genu recurvatum (HP:0002816) | 2.42432843 |
| 48 | Peritonitis (HP:0002586) | 2.41369987 |
| 49 | Cerebral aneurysm (HP:0004944) | 2.41338014 |
| 50 | Blue sclerae (HP:0000592) | 2.40790101 |
| 51 | Muscle fiber splitting (HP:0003555) | 2.40001447 |
| 52 | Metaphyseal dysplasia (HP:0100255) | 2.39823197 |
| 53 | Natal tooth (HP:0000695) | 2.38513020 |
| 54 | Vascular tortuosity (HP:0004948) | 2.33015586 |
| 55 | Flat acetabular roof (HP:0003180) | 2.32169157 |
| 56 | Aplasia involving bones of the upper limbs (HP:0009823) | 2.30536577 |
| 57 | Aplasia of the phalanges of the hand (HP:0009802) | 2.30536577 |
| 58 | Aplasia involving bones of the extremities (HP:0009825) | 2.30536577 |
| 59 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 2.28683025 |
| 60 | Abnormality of femoral epiphyses (HP:0006499) | 2.28683025 |
| 61 | Upper limb amyotrophy (HP:0009129) | 2.28480532 |
| 62 | Distal upper limb amyotrophy (HP:0007149) | 2.28480532 |
| 63 | Bowel diverticulosis (HP:0005222) | 2.28253955 |
| 64 | Aortic aneurysm (HP:0004942) | 2.27262709 |
| 65 | Hand muscle atrophy (HP:0009130) | 2.24012666 |
| 66 | Broad ribs (HP:0000885) | 2.23499852 |
| 67 | Mitral valve prolapse (HP:0001634) | 2.22380386 |
| 68 | Ectopia lentis (HP:0001083) | 2.21840314 |
| 69 | Abnormality of the vertebral endplates (HP:0005106) | 2.20644240 |
| 70 | Aortic regurgitation (HP:0001659) | 2.19843066 |
| 71 | Morphological abnormality of the middle ear (HP:0008609) | 2.19425872 |
| 72 | Abnormality of carpal bone ossification (HP:0006257) | 2.17702481 |
| 73 | Vertebral compression fractures (HP:0002953) | 2.15814641 |
| 74 | Osteolytic defects of the hand bones (HP:0009699) | 2.15502573 |
| 75 | Osteolytic defects of the phalanges of the hand (HP:0009771) | 2.15502573 |
| 76 | Elbow flexion contracture (HP:0002987) | 2.14971201 |
| 77 | Upper limb muscle weakness (HP:0003484) | 2.14456663 |
| 78 | Tibial bowing (HP:0002982) | 2.13187253 |
| 79 | Arterial tortuosity (HP:0005116) | 2.11609850 |
| 80 | Ulnar bowing (HP:0003031) | 2.11319932 |
| 81 | Abnormality of the phalanges of the 2nd finger (HP:0009541) | 2.10064617 |
| 82 | Mesomelia (HP:0003027) | 2.09133309 |
| 83 | Round ear (HP:0100830) | 2.08483477 |
| 84 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 2.05888757 |
| 85 | Abnormality of the acetabulum (HP:0003170) | 2.05575329 |
| 86 | Wrist flexion contracture (HP:0001239) | 2.05128645 |
| 87 | Asymmetric septal hypertrophy (HP:0001670) | 2.04671420 |
| 88 | Right ventricular cardiomyopathy (HP:0011663) | 2.04284109 |
| 89 | Limited elbow extension (HP:0001377) | 2.03605957 |
| 90 | Hyperextensible skin (HP:0000974) | 2.03117787 |
| 91 | Mixed hearing impairment (HP:0000410) | 2.02148622 |
| 92 | Increased connective tissue (HP:0009025) | 2.02087180 |
| 93 | Ovoid vertebral bodies (HP:0003300) | 2.00991178 |
| 94 | Increased corneal curvature (HP:0100692) | 1.99950239 |
| 95 | Keratoconus (HP:0000563) | 1.99950239 |
| 96 | Hypoventilation (HP:0002791) | 1.99652363 |
| 97 | Abnormality of the neuromuscular junction (HP:0003398) | 1.99410327 |
| 98 | Fatigable weakness (HP:0003473) | 1.99410327 |
| 99 | Infantile muscular hypotonia (HP:0008947) | 1.99337679 |
| 100 | Aneurysm (HP:0002617) | 1.98633896 |
| 101 | Delayed gross motor development (HP:0002194) | 1.98242113 |
| 102 | Hypoplasia of the iris (HP:0007676) | 1.98148785 |
| 103 | Wide anterior fontanel (HP:0000260) | 1.98111604 |
| 104 | Abnormality of the middle phalanges of the toes (HP:0010183) | 1.97731640 |
| 105 | Mildly elevated creatine phosphokinase (HP:0008180) | 1.97455574 |
| 106 | Thin ribs (HP:0000883) | 1.97300428 |
| 107 | Distal lower limb muscle weakness (HP:0009053) | 1.95706850 |
| 108 | Overgrowth (HP:0001548) | 1.95610141 |
| 109 | Flattened epiphyses (HP:0003071) | 1.94113896 |
| 110 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.93913165 |
| 111 | Absent epiphyses (HP:0010577) | 1.93913165 |
| 112 | Knee flexion contracture (HP:0006380) | 1.93065971 |
| 113 | Joint laxity (HP:0001388) | 1.92506418 |
| 114 | Beaking of vertebral bodies (HP:0004568) | 1.91896121 |
| 115 | Abnormal delivery (HP:0001787) | 1.91846289 |
| 116 | Abnormality of the 2nd finger (HP:0004100) | 1.91384791 |
| 117 | Biconcave vertebral bodies (HP:0004586) | 1.90056536 |
| 118 | Abnormality of the pubic bones (HP:0003172) | 1.89240618 |
| 119 | Pterygium (HP:0001059) | 1.88664504 |
| 120 | Slender build (HP:0001533) | 1.87858827 |
| 121 | Bradycardia (HP:0001662) | 1.87219577 |
| 122 | Abnormality of the femoral head (HP:0003368) | 1.86776201 |
| 123 | Abnormal foot bone ossification (HP:0010675) | 1.86383937 |
| 124 | Joint stiffness (HP:0001387) | 1.86334862 |
| 125 | Increased variability in muscle fiber diameter (HP:0003557) | 1.86243607 |
| 126 | Inguinal hernia (HP:0000023) | 1.86173662 |
| 127 | Short femoral neck (HP:0100864) | 1.85782310 |
| 128 | Severe visual impairment (HP:0001141) | 1.85142568 |
| 129 | Abnormal hand bone ossification (HP:0010660) | 1.85043867 |
| 130 | Vascular calcification (HP:0004934) | 1.84426716 |
| 131 | Irregular vertebral endplates (HP:0003301) | 1.83412215 |
| 132 | Unilateral renal agenesis (HP:0000122) | 1.83141120 |
| 133 | Generalized amyotrophy (HP:0003700) | 1.81385099 |
| 134 | Abnormality of the anterior chamber (HP:0000593) | 1.78505338 |
| 135 | Aplasia of the musculature (HP:0100854) | 1.77782818 |
| 136 | Aortic valve stenosis (HP:0001650) | 1.76509614 |
| 137 | Congenital glaucoma (HP:0001087) | 1.75773868 |
| 138 | Abnormality of placental membranes (HP:0011409) | 1.73887154 |
| 139 | Amniotic constriction ring (HP:0009775) | 1.73887154 |
| 140 | Mitral regurgitation (HP:0001653) | 1.73842947 |
| 141 | Protruding ear (HP:0000411) | 1.72156452 |
| 142 | Breech presentation (HP:0001623) | 1.71831696 |
| 143 | Venous insufficiency (HP:0005293) | 1.69564767 |
| 144 | Nonimmune hydrops fetalis (HP:0001790) | 1.68607102 |
| 145 | Hypoalphalipoproteinemia (HP:0003233) | 1.66845223 |
| 146 | Thin bony cortex (HP:0002753) | 1.64650867 |
| 147 | Absent frontal sinuses (HP:0002688) | 1.63105094 |
| 148 | Recurrent corneal erosions (HP:0000495) | 1.62863180 |
| 149 | Thin skin (HP:0000963) | 1.60657152 |
| 150 | Venous abnormality (HP:0002624) | 1.60631590 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | DDR2 | 5.32322749 |
| 2 | TESK1 | 4.13888619 |
| 3 | LATS2 | 2.69557715 |
| 4 | TTN | 2.65933151 |
| 5 | STK38L | 2.63549015 |
| 6 | EPHB2 | 2.47452662 |
| 7 | STK38 | 2.43184900 |
| 8 | CASK | 2.34539733 |
| 9 | LATS1 | 2.29135266 |
| 10 | FER | 2.25749634 |
| 11 | BLK | 2.23256822 |
| 12 | PDGFRA | 2.21454433 |
| 13 | EPHA2 | 2.18369090 |
| 14 | MET | 2.17344022 |
| 15 | EPHA3 | 2.10269329 |
| 16 | STK39 | 2.05307874 |
| 17 | PAK3 | 1.93583175 |
| 18 | PTK2 | 1.91284479 |
| 19 | LMTK2 | 1.89854024 |
| 20 | NME1 | 1.83493424 |
| 21 | PAK4 | 1.79829280 |
| 22 | INSRR | 1.71093510 |
| 23 | PIK3CA | 1.68393692 |
| 24 | TGFBR2 | 1.64764413 |
| 25 | NTRK1 | 1.62157234 |
| 26 | ROCK1 | 1.51068735 |
| 27 | MAP3K3 | 1.46513499 |
| 28 | DMPK | 1.41169401 |
| 29 | PLK2 | 1.39910762 |
| 30 | NEK9 | 1.38790710 |
| 31 | MYLK | 1.38166317 |
| 32 | SIK1 | 1.37914754 |
| 33 | TRPM7 | 1.36316618 |
| 34 | ROCK2 | 1.35926595 |
| 35 | WNK4 | 1.35029974 |
| 36 | RIPK1 | 1.31302963 |
| 37 | MAP3K12 | 1.30904592 |
| 38 | EPHB1 | 1.27267202 |
| 39 | PAK2 | 1.22903296 |
| 40 | PKN1 | 1.21105246 |
| 41 | OBSCN | 1.19351563 |
| 42 | ERN1 | 1.18822009 |
| 43 | PDGFRB | 1.16395423 |
| 44 | PRKD3 | 1.13711690 |
| 45 | PRKCE | 1.11557240 |
| 46 | PIM2 | 1.09841077 |
| 47 | STK24 | 1.09491966 |
| 48 | LIMK1 | 1.06557983 |
| 49 | PTK2B | 1.05379864 |
| 50 | PIK3CG | 1.04212228 |
| 51 | PNCK | 1.00180826 |
| 52 | FGFR1 | 0.99668204 |
| 53 | STK3 | 0.98722622 |
| 54 | NEK6 | 0.98575498 |
| 55 | CAMK2D | 0.98026666 |
| 56 | ICK | 0.97600143 |
| 57 | CDC42BPA | 0.97004032 |
| 58 | IRAK3 | 0.95140756 |
| 59 | NUAK1 | 0.94929116 |
| 60 | PHKG2 | 0.94710369 |
| 61 | PHKG1 | 0.94710369 |
| 62 | FRK | 0.93441992 |
| 63 | MAPKAPK3 | 0.93055461 |
| 64 | CAMK1G | 0.91267321 |
| 65 | PLK4 | 0.90860221 |
| 66 | PAK6 | 0.89696684 |
| 67 | ABL2 | 0.87344443 |
| 68 | MAP2K1 | 0.86163164 |
| 69 | OXSR1 | 0.85868060 |
| 70 | BCR | 0.85562416 |
| 71 | FGR | 0.84747186 |
| 72 | MAP4K2 | 0.81790548 |
| 73 | TRIB3 | 0.79556457 |
| 74 | PBK | 0.78985488 |
| 75 | MOS | 0.78931690 |
| 76 | CAMK2A | 0.78911780 |
| 77 | MAPKAPK5 | 0.78895150 |
| 78 | MAP3K2 | 0.78488031 |
| 79 | MAP3K9 | 0.77065101 |
| 80 | PRKD1 | 0.76186152 |
| 81 | MUSK | 0.73791457 |
| 82 | WNK1 | 0.73229555 |
| 83 | PDK2 | 0.72115845 |
| 84 | FGFR2 | 0.69703128 |
| 85 | MKNK2 | 0.67703399 |
| 86 | BMPR1B | 0.66208666 |
| 87 | CAMK1D | 0.63603006 |
| 88 | ADRBK1 | 0.62718965 |
| 89 | EIF2AK2 | 0.62082772 |
| 90 | FGFR4 | 0.62070771 |
| 91 | CDK8 | 0.61033626 |
| 92 | BMX | 0.60182450 |
| 93 | INSR | 0.60091175 |
| 94 | CAMK2B | 0.59762613 |
| 95 | PDPK1 | 0.59280397 |
| 96 | MAP3K13 | 0.58786610 |
| 97 | GRK1 | 0.58715184 |
| 98 | RPS6KA2 | 0.58489746 |
| 99 | PKN2 | 0.54605833 |
| 100 | ARAF | 0.54318507 |
| 101 | MST1R | 0.52931928 |
| 102 | NTRK3 | 0.52283900 |
| 103 | MKNK1 | 0.52083316 |
| 104 | MELK | 0.49117169 |
| 105 | CDK7 | 0.48060982 |
| 106 | ERBB4 | 0.47658398 |
| 107 | CAMK1 | 0.47011307 |
| 108 | TGFBR1 | 0.45520756 |
| 109 | TIE1 | 0.45297961 |
| 110 | ILK | 0.45053712 |
| 111 | PRKG1 | 0.43771684 |
| 112 | CDK12 | 0.43497457 |
| 113 | EPHA4 | 0.42620610 |
| 114 | RET | 0.42153235 |
| 115 | PRKAA2 | 0.41992661 |
| 116 | GRK7 | 0.41882168 |
| 117 | DYRK2 | 0.41500146 |
| 118 | DAPK3 | 0.41307579 |
| 119 | AKT3 | 0.40576320 |
| 120 | MAPK12 | 0.40123178 |
| 121 | FLT3 | 0.39568217 |
| 122 | MAPK11 | 0.39332154 |
| 123 | PRKACA | 0.38958723 |
| 124 | PRKD2 | 0.37233939 |
| 125 | EIF2AK1 | 0.36761073 |
| 126 | DYRK1A | 0.35562925 |
| 127 | CAMK2G | 0.35213557 |
| 128 | MTOR | 0.33808369 |
| 129 | SRC | 0.33451974 |
| 130 | PRKG2 | 0.33213707 |
| 131 | IGF1R | 0.30837693 |
| 132 | NEK2 | 0.30803095 |
| 133 | GSK3A | 0.30721760 |
| 134 | KSR2 | 0.29026314 |
| 135 | PAK1 | 0.28428218 |
| 136 | MAP3K8 | 0.28233586 |
| 137 | NEK1 | 0.25246446 |
| 138 | MAPKAPK2 | 0.24595310 |
| 139 | MAPK15 | 0.22147289 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | ECM-receptor interaction_Homo sapiens_hsa04512 | 4.81628492 |
| 2 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 2.80934911 |
| 3 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 2.78898265 |
| 4 | Protein digestion and absorption_Homo sapiens_hsa04974 | 2.71656780 |
| 5 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 2.68046150 |
| 6 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 2.66513944 |
| 7 | Focal adhesion_Homo sapiens_hsa04510 | 2.59662427 |
| 8 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 2.54254049 |
| 9 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 2.09847075 |
| 10 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 1.84109054 |
| 11 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.70880410 |
| 12 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 1.66861466 |
| 13 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 1.66629600 |
| 14 | Axon guidance_Homo sapiens_hsa04360 | 1.60985418 |
| 15 | Amoebiasis_Homo sapiens_hsa05146 | 1.60587391 |
| 16 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 1.59879562 |
| 17 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.58578638 |
| 18 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 1.56085357 |
| 19 | Melanoma_Homo sapiens_hsa05218 | 1.49271378 |
| 20 | Malaria_Homo sapiens_hsa05144 | 1.48673159 |
| 21 | Galactose metabolism_Homo sapiens_hsa00052 | 1.47051022 |
| 22 | Basal cell carcinoma_Homo sapiens_hsa05217 | 1.43947753 |
| 23 | Hippo signaling pathway_Homo sapiens_hsa04390 | 1.42794353 |
| 24 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.38204139 |
| 25 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 1.36854628 |
| 26 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.36079166 |
| 27 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.35950108 |
| 28 | Nicotine addiction_Homo sapiens_hsa05033 | 1.35726885 |
| 29 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 1.32795242 |
| 30 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 1.32527676 |
| 31 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 1.28937114 |
| 32 | Sulfur metabolism_Homo sapiens_hsa00920 | 1.26846928 |
| 33 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 1.24787107 |
| 34 | Adherens junction_Homo sapiens_hsa04520 | 1.15433473 |
| 35 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 1.15289434 |
| 36 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.15225619 |
| 37 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.14753006 |
| 38 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 1.12785471 |
| 39 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 1.12569056 |
| 40 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.09056287 |
| 41 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 1.08287449 |
| 42 | Tight junction_Homo sapiens_hsa04530 | 1.06165940 |
| 43 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.06160370 |
| 44 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 1.06077570 |
| 45 | Small cell lung cancer_Homo sapiens_hsa05222 | 1.04262412 |
| 46 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.03941240 |
| 47 | Phagosome_Homo sapiens_hsa04145 | 1.02036770 |
| 48 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 1.01731476 |
| 49 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.01182659 |
| 50 | Renal cell carcinoma_Homo sapiens_hsa05211 | 0.99981792 |
| 51 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.98046420 |
| 52 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.97680614 |
| 53 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.97280469 |
| 54 | Taste transduction_Homo sapiens_hsa04742 | 0.96440505 |
| 55 | Bladder cancer_Homo sapiens_hsa05219 | 0.96299424 |
| 56 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.94972434 |
| 57 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.94801905 |
| 58 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.94642869 |
| 59 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.94535103 |
| 60 | Melanogenesis_Homo sapiens_hsa04916 | 0.94451645 |
| 61 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 0.93872049 |
| 62 | Ras signaling pathway_Homo sapiens_hsa04014 | 0.93335355 |
| 63 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.93169121 |
| 64 | Salivary secretion_Homo sapiens_hsa04970 | 0.92179100 |
| 65 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.91358504 |
| 66 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.86773025 |
| 67 | Alzheimers disease_Homo sapiens_hsa05010 | 0.86381070 |
| 68 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.85736630 |
| 69 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.85260110 |
| 70 | Protein export_Homo sapiens_hsa03060 | 0.84969764 |
| 71 | Long-term depression_Homo sapiens_hsa04730 | 0.84692871 |
| 72 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.83708338 |
| 73 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.81852282 |
| 74 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.81705460 |
| 75 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 0.81368207 |
| 76 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.80406696 |
| 77 | Gap junction_Homo sapiens_hsa04540 | 0.80386412 |
| 78 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.80114378 |
| 79 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.79401975 |
| 80 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.79183385 |
| 81 | Pathways in cancer_Homo sapiens_hsa05200 | 0.78776436 |
| 82 | Renin secretion_Homo sapiens_hsa04924 | 0.76377964 |
| 83 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.76243288 |
| 84 | Cocaine addiction_Homo sapiens_hsa05030 | 0.76202706 |
| 85 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.75213155 |
| 86 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.75154531 |
| 87 | Morphine addiction_Homo sapiens_hsa05032 | 0.74396573 |
| 88 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.69579761 |
| 89 | GABAergic synapse_Homo sapiens_hsa04727 | 0.68535230 |
| 90 | * Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.68301089 |
| 91 | Endocytosis_Homo sapiens_hsa04144 | 0.68260770 |
| 92 | Circadian entrainment_Homo sapiens_hsa04713 | 0.67288175 |
| 93 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.65665569 |
| 94 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.65283937 |
| 95 | Parkinsons disease_Homo sapiens_hsa05012 | 0.65123636 |
| 96 | Phototransduction_Homo sapiens_hsa04744 | 0.64998176 |
| 97 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.63581781 |
| 98 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.63528696 |
| 99 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.63473195 |
| 100 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.61707146 |
| 101 | Prostate cancer_Homo sapiens_hsa05215 | 0.61650211 |
| 102 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.58616934 |
| 103 | Insulin secretion_Homo sapiens_hsa04911 | 0.57953183 |
| 104 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.57872404 |
| 105 | Prion diseases_Homo sapiens_hsa05020 | 0.57816746 |
| 106 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.57614392 |
| 107 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.56950923 |
| 108 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.56674098 |
| 109 | Mineral absorption_Homo sapiens_hsa04978 | 0.56448089 |
| 110 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.56320922 |
| 111 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.55589634 |
| 112 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.54945492 |
| 113 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.54748084 |
| 114 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 0.54071207 |
| 115 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.53868526 |
| 116 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 0.52926545 |
| 117 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.52680553 |
| 118 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.52482904 |
| 119 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.50534477 |
| 120 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.50289637 |
| 121 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.50252880 |
| 122 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.50123238 |
| 123 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.50011470 |
| 124 | Huntingtons disease_Homo sapiens_hsa05016 | 0.49849472 |
| 125 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.49697989 |
| 126 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.48502358 |
| 127 | Lysine degradation_Homo sapiens_hsa00310 | 0.48441455 |
| 128 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.48348858 |
| 129 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.48308839 |
| 130 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.48066091 |
| 131 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.47474627 |
| 132 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.47422622 |
| 133 | Other glycan degradation_Homo sapiens_hsa00511 | 0.45409251 |
| 134 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.44642445 |
| 135 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.44634032 |
| 136 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.43703008 |
| 137 | Retinol metabolism_Homo sapiens_hsa00830 | 0.43492218 |
| 138 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.42947596 |
| 139 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.41759912 |
| 140 | Circadian rhythm_Homo sapiens_hsa04710 | 0.41676920 |
| 141 | Lysosome_Homo sapiens_hsa04142 | 0.41375298 |
| 142 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.40980401 |
| 143 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.40681312 |
| 144 | Bile secretion_Homo sapiens_hsa04976 | 0.38648419 |
| 145 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.34572817 |
| 146 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.30802012 |
| 147 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.30097802 |
| 148 | Carbon metabolism_Homo sapiens_hsa01200 | 0.28883013 |
| 149 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.26097441 |
| 150 | ABC transporters_Homo sapiens_hsa02010 | 0.25362872 |
| 151 | Olfactory transduction_Homo sapiens_hsa04740 | 0.24878440 |

