

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | surfactant homeostasis (GO:0043129) | 7.02970682 |
| 2 | blood vessel maturation (GO:0001955) | 6.85769268 |
| 3 | positive regulation of endothelial cell differentiation (GO:0045603) | 6.69635060 |
| 4 | regulation of endothelial cell differentiation (GO:0045601) | 6.66460133 |
| 5 | morphogenesis of an endothelium (GO:0003159) | 6.19026123 |
| 6 | endothelial tube morphogenesis (GO:0061154) | 6.19026123 |
| 7 | lymphangiogenesis (GO:0001946) | 6.14873423 |
| 8 | chemical homeostasis within a tissue (GO:0048875) | 5.37189295 |
| 9 | lymph vessel development (GO:0001945) | 5.33546207 |
| 10 | protein heterotrimerization (GO:0070208) | 5.30060752 |
| 11 | artery development (GO:0060840) | 5.21908925 |
| 12 | type B pancreatic cell proliferation (GO:0044342) | 4.86772516 |
| 13 | regulation of vasculogenesis (GO:2001212) | 4.86665957 |
| 14 | adhesion of symbiont to host cell (GO:0044650) | 4.86263228 |
| 15 | virion attachment to host cell (GO:0019062) | 4.86263228 |
| 16 | extracellular matrix assembly (GO:0085029) | 4.80144000 |
| 17 | vascular endothelial growth factor signaling pathway (GO:0038084) | 4.66128839 |
| 18 | endodermal cell differentiation (GO:0035987) | 4.65507421 |
| 19 | skin morphogenesis (GO:0043589) | 4.62655633 |
| 20 | positive regulation of vasculogenesis (GO:2001214) | 4.60969808 |
| 21 | axon extension involved in axon guidance (GO:0048846) | 4.45111896 |
| 22 | neuron projection extension involved in neuron projection guidance (GO:1902284) | 4.45111896 |
| 23 | mesenchymal-epithelial cell signaling (GO:0060638) | 4.44980810 |
| 24 | positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G- | 4.40311770 |
| 25 | pericardium development (GO:0060039) | 4.38598585 |
| 26 | kidney mesenchyme development (GO:0072074) | 4.34318192 |
| 27 | endothelial cell differentiation (GO:0045446) | 4.31868702 |
| 28 | collagen fibril organization (GO:0030199) | 4.27488128 |
| 29 | cell proliferation involved in metanephros development (GO:0072203) | 4.22179006 |
| 30 | renal filtration (GO:0097205) | 4.17046873 |
| 31 | adhesion of symbiont to host (GO:0044406) | 4.03932189 |
| 32 | endothelium development (GO:0003158) | 4.00482382 |
| 33 | cellular response to vascular endothelial growth factor stimulus (GO:0035924) | 3.97630558 |
| 34 | hippo signaling (GO:0035329) | 3.97341423 |
| 35 | glomerular filtration (GO:0003094) | 3.97106080 |
| 36 | * respiratory tube development (GO:0030323) | 3.94268155 |
| 37 | blood vessel remodeling (GO:0001974) | 3.84529309 |
| 38 | wound healing, spreading of epidermal cells (GO:0035313) | 3.82191638 |
| 39 | retina vasculature morphogenesis in camera-type eye (GO:0061299) | 3.80873093 |
| 40 | cell proliferation involved in kidney development (GO:0072111) | 3.77847740 |
| 41 | basement membrane organization (GO:0071711) | 3.67315230 |
| 42 | endothelial cell morphogenesis (GO:0001886) | 3.67158442 |
| 43 | cellular response to vitamin (GO:0071295) | 3.65780520 |
| 44 | * endocardial cushion development (GO:0003197) | 3.64492757 |
| 45 | negative regulation of smooth muscle cell migration (GO:0014912) | 3.63914618 |
| 46 | tooth mineralization (GO:0034505) | 3.60636904 |
| 47 | patterning of blood vessels (GO:0001569) | 3.58667820 |
| 48 | organ formation (GO:0048645) | 3.58649743 |
| 49 | negative regulation of viral release from host cell (GO:1902187) | 3.57132907 |
| 50 | positive regulation of endothelial cell apoptotic process (GO:2000353) | 3.57106299 |
| 51 | muscle cell migration (GO:0014812) | 3.56010829 |
| 52 | atrioventricular valve morphogenesis (GO:0003181) | 3.50773329 |
| 53 | anterior/posterior axis specification, embryo (GO:0008595) | 3.48267559 |
| 54 | negative regulation of cell fate specification (GO:0009996) | 3.44395815 |
| 55 | metanephric mesenchyme development (GO:0072075) | 3.43541463 |
| 56 | negative regulation of axon extension involved in axon guidance (GO:0048843) | 3.43318370 |
| 57 | * vasculogenesis (GO:0001570) | 3.42971744 |
| 58 | collagen metabolic process (GO:0032963) | 3.42436504 |
| 59 | regulation of heart morphogenesis (GO:2000826) | 3.42254015 |
| 60 | cell migration involved in sprouting angiogenesis (GO:0002042) | 3.38849510 |
| 61 | positive regulation of BMP signaling pathway (GO:0030513) | 3.38137936 |
| 62 | hypotonic response (GO:0006971) | 3.34938289 |
| 63 | sequestering of extracellular ligand from receptor (GO:0035581) | 3.32324890 |
| 64 | dichotomous subdivision of an epithelial terminal unit (GO:0060600) | 3.32321829 |
| 65 | heparan sulfate proteoglycan biosynthetic process (GO:0015012) | 3.30401410 |
| 66 | collagen catabolic process (GO:0030574) | 3.28866951 |
| 67 | blood vessel endothelial cell migration (GO:0043534) | 3.26953157 |
| 68 | endothelial cell proliferation (GO:0001935) | 3.26828626 |
| 69 | multicellular organismal macromolecule metabolic process (GO:0044259) | 3.23177436 |
| 70 | diaphragm development (GO:0060539) | 3.21782560 |
| 71 | facial nerve structural organization (GO:0021612) | 3.21335512 |
| 72 | ganglion development (GO:0061548) | 3.20557403 |
| 73 | * mesodermal cell differentiation (GO:0048333) | 3.20042120 |
| 74 | mesenchymal cell proliferation (GO:0010463) | 3.15491442 |
| 75 | negative regulation of stem cell proliferation (GO:2000647) | 3.15377475 |
| 76 | smooth muscle tissue development (GO:0048745) | 3.14917101 |
| 77 | * lung vasculature development (GO:0060426) | 3.13442694 |
| 78 | aorta morphogenesis (GO:0035909) | 3.13236404 |
| 79 | regulation of glucocorticoid metabolic process (GO:0031943) | 3.11635575 |
| 80 | multicellular organismal catabolic process (GO:0044243) | 3.11454974 |
| 81 | planar cell polarity pathway involved in neural tube closure (GO:0090179) | 3.11364104 |
| 82 | regulation of smooth muscle cell migration (GO:0014910) | 3.10759164 |
| 83 | endocardial cushion morphogenesis (GO:0003203) | 3.10693066 |
| 84 | cell migration involved in heart development (GO:0060973) | 3.10202477 |
| 85 | negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394) | 3.09929243 |
| 86 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 3.09223760 |
| 87 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 3.09223760 |
| 88 | regulation of axon extension involved in axon guidance (GO:0048841) | 3.09210117 |
| 89 | * artery morphogenesis (GO:0048844) | 3.08590407 |
| 90 | * vasculature development (GO:0001944) | 3.08483340 |
| 91 | positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862) | 3.08145236 |
| 92 | mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337) | 3.06953796 |
| 93 | positive regulation of osteoblast proliferation (GO:0033690) | 3.05373213 |
| 94 | multicellular organismal metabolic process (GO:0044236) | 3.05234694 |
| 95 | vascular endothelial growth factor receptor signaling pathway (GO:0048010) | 3.04184803 |
| 96 | cellular response to nitric oxide (GO:0071732) | 3.03855314 |
| 97 | response to xenobiotic stimulus (GO:0009410) | 3.03100584 |
| 98 | negative regulation of vascular permeability (GO:0043116) | 3.02566567 |
| 99 | barbed-end actin filament capping (GO:0051016) | 3.02285427 |
| 100 | embryonic heart tube development (GO:0035050) | 3.01834641 |
| 101 | negative regulation of chondrocyte differentiation (GO:0032331) | 2.99218839 |
| 102 | cell surface receptor signaling pathway involved in heart development (GO:0061311) | 2.99141720 |
| 103 | extracellular fibril organization (GO:0043206) | 2.98025386 |
| 104 | cell adhesion mediated by integrin (GO:0033627) | 2.97174987 |
| 105 | apoptotic cell clearance (GO:0043277) | 2.96503735 |
| 106 | positive regulation of macroautophagy (GO:0016239) | 2.94694764 |
| 107 | chondrocyte proliferation (GO:0035988) | 2.94109490 |
| 108 | cellular response to vitamin D (GO:0071305) | 2.92511714 |
| 109 | positive regulation of astrocyte differentiation (GO:0048711) | 2.91967598 |
| 110 | coronary vasculature morphogenesis (GO:0060977) | 2.90545499 |
| 111 | substrate adhesion-dependent cell spreading (GO:0034446) | 2.89166742 |
| 112 | hyaluronan catabolic process (GO:0030214) | 2.88862710 |
| 113 | sprouting angiogenesis (GO:0002040) | 2.87447091 |
| 114 | regulation of collagen metabolic process (GO:0010712) | 2.87351058 |
| 115 | fibril organization (GO:0097435) | 2.87277098 |
| 116 | * lung alveolus development (GO:0048286) | 2.87168099 |
| 117 | extracellular matrix disassembly (GO:0022617) | 2.86409518 |
| 118 | bone trabecula formation (GO:0060346) | 2.86109891 |
| 119 | radial glial cell differentiation (GO:0060019) | 2.85460803 |
| 120 | ectodermal placode formation (GO:0060788) | 2.85388412 |
| 121 | regulation of branching involved in salivary gland morphogenesis (GO:0060693) | 2.84929425 |
| 122 | negative regulation of catenin import into nucleus (GO:0035414) | 2.84922787 |
| 123 | regulation of establishment of planar polarity involved in neural tube closure (GO:0090178) | 2.84798795 |
| 124 | positive regulation of cartilage development (GO:0061036) | 2.84103029 |
| 125 | positive regulation of syncytium formation by plasma membrane fusion (GO:0060143) | 2.83543077 |
| 126 | cell differentiation involved in metanephros development (GO:0072202) | 2.83239486 |
| 127 | regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307) | 2.82564677 |
| 128 | substrate-dependent cell migration (GO:0006929) | 2.82368905 |
| 129 | response to BMP (GO:0071772) | 2.82366073 |
| 130 | cellular response to BMP stimulus (GO:0071773) | 2.82366073 |
| 131 | positive regulation of macrophage activation (GO:0043032) | 2.80963235 |
| 132 | mesenchyme morphogenesis (GO:0072132) | 2.80010540 |
| 133 | negative regulation of embryonic development (GO:0045992) | 2.79066821 |
| 134 | regulation of glomerular filtration (GO:0003093) | 2.78826302 |
| 135 | outflow tract morphogenesis (GO:0003151) | 2.78615737 |
| 136 | positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511) | 2.78281887 |
| 137 | regulation of integrin-mediated signaling pathway (GO:2001044) | 2.77936885 |
| 138 | proteoglycan biosynthetic process (GO:0030166) | 2.77676680 |
| 139 | protein localization to cell surface (GO:0034394) | 2.77140917 |
| 140 | positive regulation of collagen biosynthetic process (GO:0032967) | 2.75924147 |
| 141 | dermatan sulfate biosynthetic process (GO:0030208) | 2.75757469 |
| 142 | * blood vessel morphogenesis (GO:0048514) | 2.75591878 |
| 143 | regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547) | 2.75534166 |
| 144 | lung-associated mesenchyme development (GO:0060484) | 2.75480934 |
| 145 | regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393) | 2.75272324 |
| 146 | negative regulation of hormone biosynthetic process (GO:0032353) | 2.69959131 |
| 147 | regulation of transcription from RNA polymerase II promoter involved in heart development (GO:190121 | 2.69717616 |
| 148 | positive regulation of hormone biosynthetic process (GO:0046886) | 2.69544574 |
| 149 | regulation of nephron tubule epithelial cell differentiation (GO:0072182) | 2.69185882 |
| 150 | regulation of SMAD protein import into nucleus (GO:0060390) | 2.69053706 |
| 151 | positive regulation of chondrocyte differentiation (GO:0032332) | 2.68921170 |
| 152 | regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095) | 2.68390947 |
| 153 | positive regulation of blood vessel endothelial cell migration (GO:0043536) | 2.68005841 |
| 154 | regulation of response to osmotic stress (GO:0047484) | 2.67714858 |
| 155 | negative regulation of platelet activation (GO:0010544) | 2.67595036 |
| 156 | negative regulation of osteoblast proliferation (GO:0033689) | 2.67343797 |
| 157 | dorsal/ventral axis specification (GO:0009950) | 2.65340471 |
| 158 | skeletal muscle organ development (GO:0060538) | 2.65049460 |
| 159 | regulation of vascular endothelial growth factor signaling pathway (GO:1900746) | 2.64324051 |
| 160 | dermatan sulfate metabolic process (GO:0030205) | 2.64299300 |
| 161 | positive regulation of epithelial to mesenchymal transition (GO:0010718) | 2.63539425 |
| 162 | venous blood vessel morphogenesis (GO:0048845) | 2.63293271 |
| 163 | positive regulation of fibroblast migration (GO:0010763) | 2.62562547 |
| 164 | negative regulation of axon guidance (GO:1902668) | 2.62397981 |
| 165 | negative regulation of androgen receptor signaling pathway (GO:0060766) | 2.61480154 |
| 166 | craniofacial suture morphogenesis (GO:0097094) | 2.61473338 |
| 167 | negative regulation of cell junction assembly (GO:1901889) | 2.61273511 |
| 168 | response to increased oxygen levels (GO:0036296) | 2.60426675 |
| 169 | response to hyperoxia (GO:0055093) | 2.60426675 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 4.62569573 |
| 2 | CLOCK_20551151_ChIP-Seq_293T_Human | 3.67529705 |
| 3 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 3.13730591 |
| 4 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 3.01896829 |
| 5 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 2.96712758 |
| 6 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.79304464 |
| 7 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 2.62764056 |
| 8 | GATA2_21666600_ChIP-Seq_HMVEC_Human | 2.60551008 |
| 9 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 2.60491433 |
| 10 | GATA1_22025678_ChIP-Seq_K562_Human | 2.53957202 |
| 11 | EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse | 2.53822699 |
| 12 | ESR1_22446102_ChIP-Seq_UTERUS_Mouse | 2.38051335 |
| 13 | ELK3_25401928_ChIP-Seq_HUVEC_Human | 2.24182759 |
| 14 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 2.21516647 |
| 15 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 2.21305675 |
| 16 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 2.20568554 |
| 17 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 2.20332748 |
| 18 | TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 2.16796411 |
| 19 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 2.14892459 |
| 20 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 2.12920567 |
| 21 | CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse | 2.07951873 |
| 22 | NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 2.07080403 |
| 23 | SALL4_18804426_ChIP-ChIP_XEN_Mouse | 2.01845408 |
| 24 | EP300_21415370_ChIP-Seq_HL-1_Mouse | 2.01788204 |
| 25 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 2.01760809 |
| 26 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 1.93937060 |
| 27 | SMC1_22415368_ChIP-Seq_MEFs_Mouse | 1.93375922 |
| 28 | TP53_22127205_ChIP-Seq_IMR90_Human | 1.93062999 |
| 29 | WT1_19549856_ChIP-ChIP_CCG9911_Human | 1.91589489 |
| 30 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.87747805 |
| 31 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 1.85884921 |
| 32 | CDX2_20551321_ChIP-Seq_CACO-2_Human | 1.83664701 |
| 33 | SMAD_19615063_ChIP-ChIP_OVARY_Human | 1.83393877 |
| 34 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 1.81944852 |
| 35 | RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 1.79567267 |
| 36 | PHC1_16625203_ChIP-ChIP_MESCs_Mouse | 1.77506238 |
| 37 | ISL1_27105846_Chip-Seq_CPCs_Mouse | 1.76096549 |
| 38 | WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 1.75239682 |
| 39 | CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 1.75015604 |
| 40 | CJUN_26792858_Chip-Seq_BT549_Human | 1.71765963 |
| 41 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 1.71555277 |
| 42 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.69527554 |
| 43 | KLF2_18264089_ChIP-ChIP_MESCs_Mouse | 1.67552996 |
| 44 | KLF5_18264089_ChIP-ChIP_MESCs_Mouse | 1.67552996 |
| 45 | KLF4_18264089_ChIP-ChIP_MESCs_Mouse | 1.67552996 |
| 46 | PPAR_26484153_Chip-Seq_NCI-H1993_Human | 1.65935481 |
| 47 | BRD4_25478319_ChIP-Seq_HGPS_Human | 1.65505349 |
| 48 | SUZ12_18692474_ChIP-Seq_MEFs_Mouse | 1.63635670 |
| 49 | RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 1.63468195 |
| 50 | SMC3_22415368_ChIP-Seq_MEFs_Mouse | 1.62192209 |
| 51 | SMAD3_18955504_ChIP-ChIP_HaCaT_Human | 1.61699065 |
| 52 | SMAD2_18955504_ChIP-ChIP_HaCaT_Human | 1.61699065 |
| 53 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 1.58553263 |
| 54 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.58313889 |
| 55 | JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.58305821 |
| 56 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.57709575 |
| 57 | ATF3_23680149_ChIP-Seq_GBM1-GSC_Human | 1.55504130 |
| 58 | TP53_16413492_ChIP-PET_HCT116_Human | 1.54176141 |
| 59 | SOX2_20726797_ChIP-Seq_SW620_Human | 1.53565162 |
| 60 | KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.53279958 |
| 61 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 1.52844122 |
| 62 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 1.52651273 |
| 63 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 1.51734017 |
| 64 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.51061854 |
| 65 | SA1_22415368_ChIP-Seq_MEFs_Mouse | 1.49710083 |
| 66 | * STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.47995865 |
| 67 | TP53_20018659_ChIP-ChIP_R1E_Mouse | 1.47815593 |
| 68 | FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.44021831 |
| 69 | EZH2_18974828_ChIP-Seq_MESCs_Mouse | 1.40941514 |
| 70 | RNF2_18974828_ChIP-Seq_MESCs_Mouse | 1.40941514 |
| 71 | SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 1.40838541 |
| 72 | DMRT1_23473982_ChIP-Seq_TESTES_Mouse | 1.39240695 |
| 73 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.36967327 |
| 74 | JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.36569514 |
| 75 | MEF2A_21415370_ChIP-Seq_HL-1_Mouse | 1.36230975 |
| 76 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 1.32362197 |
| 77 | TBX20_22328084_ChIP-Seq_HEART_Mouse | 1.30077120 |
| 78 | TBX20_22080862_ChIP-Seq_HEART_Mouse | 1.30077120 |
| 79 | SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 1.29868813 |
| 80 | KDM2B_26808549_Chip-Seq_SUP-B15_Human | 1.29635596 |
| 81 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.28890163 |
| 82 | FOXO3_23340844_ChIP-Seq_DLD1_Human | 1.28835516 |
| 83 | * UBF1/2_26484160_Chip-Seq_HMECs_Human | 1.27489423 |
| 84 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.27387298 |
| 85 | SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 1.26538353 |
| 86 | * TP53_18474530_ChIP-ChIP_U2OS_Human | 1.25951100 |
| 87 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.25238492 |
| 88 | ZFP281_18358816_ChIP-ChIP_MESCs_Mouse | 1.24246709 |
| 89 | SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 1.21982011 |
| 90 | BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human | 1.21800618 |
| 91 | MTF2_20144788_ChIP-Seq_MESCs_Mouse | 1.21224601 |
| 92 | ZIC3_20872845_ChIP-ChIP_MESCs_Mouse | 1.20610013 |
| 93 | NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human | 1.19174143 |
| 94 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 1.17795753 |
| 95 | RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human | 1.16274483 |
| 96 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.14189755 |
| 97 | TP53_23651856_ChIP-Seq_MEFs_Mouse | 1.13707899 |
| 98 | SOX9_24532713_ChIP-Seq_HFSC_Mouse | 1.12654011 |
| 99 | * P300_27058665_Chip-Seq_ZR-75-30cells_Human | 1.12127574 |
| 100 | ZFP281_27345836_Chip-Seq_ESCs_Mouse | 1.11849966 |
| 101 | * RACK7_27058665_Chip-Seq_MCF-7_Human | 1.11005052 |
| 102 | FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human | 1.10971397 |
| 103 | TCF3_18692474_ChIP-Seq_MEFs_Mouse | 1.10893241 |
| 104 | TCF3_18467660_ChIP-ChIP_MESCs_Mouse | 1.10149966 |
| 105 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.10106768 |
| 106 | FOXP3_17237761_ChIP-ChIP_TREG_Mouse | 1.09723332 |
| 107 | NKX2-5_21415370_ChIP-Seq_HL-1_Mouse | 1.08726747 |
| 108 | RNF2_27304074_Chip-Seq_ESCs_Mouse | 1.07751412 |
| 109 | KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.07667655 |
| 110 | SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 1.07268198 |
| 111 | Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse | 1.05696726 |
| 112 | NRF2_20460467_ChIP-Seq_MEFs_Mouse | 1.05595224 |
| 113 | NFE2L2_20460467_ChIP-Seq_MEFs_Mouse | 1.05595224 |
| 114 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 1.02843056 |
| 115 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.02109134 |
| 116 | HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse | 1.01705453 |
| 117 | UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 1.01048431 |
| 118 | ZFP281_18757296_ChIP-ChIP_E14_Mouse | 0.98833303 |
| 119 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 0.97257778 |
| 120 | NR1I2_20693526_ChIP-Seq_LIVER_Mouse | 0.97160976 |
| 121 | GATA4_25053715_ChIP-Seq_YYC3_Human | 0.96879972 |
| 122 | RING1B_27294783_Chip-Seq_NPCs_Mouse | 0.95591248 |
| 123 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 0.92600562 |
| 124 | * PPARD_21283829_ChIP-Seq_MYOFIBROBLAST_Human | 0.91093342 |
| 125 | STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse | 0.88995925 |
| 126 | LXR_22292898_ChIP-Seq_THP-1_Human | 0.88981329 |
| 127 | WT1_25993318_ChIP-Seq_PODOCYTE_Human | 0.88417189 |
| 128 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 0.87205567 |
| 129 | SMAD3_22036565_ChIP-Seq_ESCs_Mouse | 0.86664328 |
| 130 | PPARG_20887899_ChIP-Seq_3T3-L1_Mouse | 0.86457887 |
| 131 | EOMES_20176728_ChIP-ChIP_TSCs_Mouse | 0.86412434 |
| 132 | TET1_21490601_ChIP-Seq_MESCs_Mouse | 0.86407818 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0010368_abnormal_lymphatic_system | 5.20346870 |
| 2 | MP0001879_abnormal_lymphatic_vessel | 4.38370635 |
| 3 | MP0005257_abnormal_intraocular_pressure | 3.97547661 |
| 4 | MP0004272_abnormal_basement_membrane | 3.80000199 |
| 5 | MP0001958_emphysema | 3.60301351 |
| 6 | MP0005167_abnormal_blood-brain_barrier | 3.36885339 |
| 7 | MP0008438_abnormal_cutaneous_collagen | 3.15357833 |
| 8 | MP0001542_abnormal_bone_strength | 3.13906877 |
| 9 | MP0006054_spinal_hemorrhage | 2.79103890 |
| 10 | MP0004782_abnormal_surfactant_physiolog | 2.68100935 |
| 11 | MP0003705_abnormal_hypodermis_morpholog | 2.66992992 |
| 12 | MP0005623_abnormal_meninges_morphology | 2.53994173 |
| 13 | MP0000537_abnormal_urethra_morphology | 2.49356981 |
| 14 | MP0005503_abnormal_tendon_morphology | 2.48488977 |
| 15 | MP0010030_abnormal_orbit_morphology | 2.40860070 |
| 16 | MP0002138_abnormal_hepatobiliary_system | 2.25753424 |
| 17 | MP0000767_abnormal_smooth_muscle | 2.24271235 |
| 18 | MP0003950_abnormal_plasma_membrane | 2.14674458 |
| 19 | MP0003279_aneurysm | 2.09421241 |
| 20 | MP0005367_renal/urinary_system_phenotyp | 2.06358964 |
| 21 | MP0000516_abnormal_urinary_system | 2.06358964 |
| 22 | MP0003385_abnormal_body_wall | 2.04982613 |
| 23 | MP0003122_maternal_imprinting | 2.02443180 |
| 24 | MP0005275_abnormal_skin_tensile | 2.00050845 |
| 25 | MP0009384_cardiac_valve_regurgitation | 1.97941176 |
| 26 | MP0000534_abnormal_ureter_morphology | 1.79452315 |
| 27 | MP0000751_myopathy | 1.64082388 |
| 28 | MP0003941_abnormal_skin_development | 1.63365172 |
| 29 | MP0003566_abnormal_cell_adhesion | 1.61873469 |
| 30 | MP0006138_congestive_heart_failure | 1.61451894 |
| 31 | MP0002295_abnormal_pulmonary_circulatio | 1.60719032 |
| 32 | MP0002249_abnormal_larynx_morphology | 1.59831478 |
| 33 | MP0003828_pulmonary_edema | 1.59828906 |
| 34 | MP0002254_reproductive_system_inflammat | 1.59072690 |
| 35 | MP0003115_abnormal_respiratory_system | 1.58568918 |
| 36 | MP0003123_paternal_imprinting | 1.56846283 |
| 37 | MP0003448_altered_tumor_morphology | 1.53782669 |
| 38 | MP0002877_abnormal_melanocyte_morpholog | 1.50721417 |
| 39 | MP0009053_abnormal_anal_canal | 1.48321185 |
| 40 | MP0008004_abnormal_stomach_pH | 1.46795418 |
| 41 | MP0002282_abnormal_trachea_morphology | 1.45922446 |
| 42 | MP0005388_respiratory_system_phenotype | 1.42734848 |
| 43 | MP0002133_abnormal_respiratory_system | 1.42734848 |
| 44 | MP0003567_abnormal_fetal_cardiomyocyte | 1.42515328 |
| 45 | MP0003935_abnormal_craniofacial_develop | 1.42186724 |
| 46 | MP0002132_abnormal_respiratory_system | 1.41869266 |
| 47 | MP0001986_abnormal_taste_sensitivity | 1.39654470 |
| 48 | MP0001299_abnormal_eye_distance/ | 1.38631515 |
| 49 | MP0003942_abnormal_urinary_system | 1.37061685 |
| 50 | MP0005595_abnormal_vascular_smooth | 1.36788035 |
| 51 | MP0002925_abnormal_cardiovascular_devel | 1.36451273 |
| 52 | MP0003091_abnormal_cell_migration | 1.32799708 |
| 53 | MP0000013_abnormal_adipose_tissue | 1.31372651 |
| 54 | MP0005390_skeleton_phenotype | 1.30998732 |
| 55 | MP0005508_abnormal_skeleton_morphology | 1.30869330 |
| 56 | MP0001243_abnormal_dermal_layer | 1.30851734 |
| 57 | MP0000538_abnormal_urinary_bladder | 1.29208578 |
| 58 | MP0009780_abnormal_chondrocyte_physiolo | 1.28164780 |
| 59 | MP0003724_increased_susceptibility_to | 1.28128915 |
| 60 | MP0001175_abnormal_lung_morphology | 1.26165501 |
| 61 | MP0010386_abnormal_urinary_bladder | 1.24475714 |
| 62 | MP0000049_abnormal_middle_ear | 1.24472192 |
| 63 | MP0000249_abnormal_blood_vessel | 1.24431186 |
| 64 | MP0003937_abnormal_limbs/digits/tail_de | 1.24232778 |
| 65 | MP0009250_abnormal_appendicular_skeleto | 1.24230883 |
| 66 | MP0005248_abnormal_Harderian_gland | 1.23297262 |
| 67 | MP0002060_abnormal_skin_morphology | 1.22794112 |
| 68 | MP0005197_abnormal_uvea_morphology | 1.21072600 |
| 69 | MP0002128_abnormal_blood_circulation | 1.19399696 |
| 70 | MP0001348_abnormal_lacrimal_gland | 1.19077039 |
| 71 | MP0008995_early_reproductive_senescence | 1.16952543 |
| 72 | MP0001614_abnormal_blood_vessel | 1.15603508 |
| 73 | MP0000566_synostosis | 1.12200132 |
| 74 | MP0002932_abnormal_joint_morphology | 1.11790751 |
| 75 | MP0000465_gastrointestinal_hemorrhage | 1.09603436 |
| 76 | MP0005023_abnormal_wound_healing | 1.09541064 |
| 77 | MP0009840_abnormal_foam_cell | 1.07912353 |
| 78 | MP0004883_abnormal_blood_vessel | 1.05970139 |
| 79 | MP0001664_abnormal_digestion | 1.04706745 |
| 80 | MP0000858_altered_metastatic_potential | 1.04203650 |
| 81 | MP0000762_abnormal_tongue_morphology | 1.03167376 |
| 82 | MP0003119_abnormal_digestive_system | 1.01595848 |
| 83 | MP0000462_abnormal_digestive_system | 1.01356751 |
| 84 | MP0001270_distended_abdomen | 1.00814557 |
| 85 | MP0002277_abnormal_respiratory_mucosa | 1.00784036 |
| 86 | MP0010352_gastrointestinal_tract_polyps | 0.99950491 |
| 87 | MP0005187_abnormal_penis_morphology | 0.99735694 |
| 88 | MP0005164_abnormal_response_to | 0.98194392 |
| 89 | MP0001533_abnormal_skeleton_physiology | 0.98125846 |
| 90 | MP0002127_abnormal_cardiovascular_syste | 0.98065321 |
| 91 | MP0003283_abnormal_digestive_organ | 0.95686448 |
| 92 | MP0004510_myositis | 0.95485910 |
| 93 | MP0002938_white_spotting | 0.94995786 |
| 94 | MP0003300_gastrointestinal_ulcer | 0.92490137 |
| 95 | MP0003755_abnormal_palate_morphology | 0.90455031 |
| 96 | MP0000733_abnormal_muscle_development | 0.90095635 |
| 97 | MP0005408_hypopigmentation | 0.90076790 |
| 98 | MP0005084_abnormal_gallbladder_morpholo | 0.89565729 |
| 99 | MP0004858_abnormal_nervous_system | 0.89247242 |
| 100 | MP0000428_abnormal_craniofacial_morphol | 0.89221659 |
| 101 | MP0000613_abnormal_salivary_gland | 0.88747984 |
| 102 | MP0002086_abnormal_extraembryonic_tissu | 0.88215811 |
| 103 | MP0001177_atelectasis | 0.85927927 |
| 104 | MP0002933_joint_inflammation | 0.85017579 |
| 105 | MP0003121_genomic_imprinting | 0.83313139 |
| 106 | MP0002998_abnormal_bone_remodeling | 0.83037193 |
| 107 | MP0000266_abnormal_heart_morphology | 0.82903239 |
| 108 | MP0001849_ear_inflammation | 0.82541664 |
| 109 | MP0005385_cardiovascular_system_phenoty | 0.82375568 |
| 110 | MP0001544_abnormal_cardiovascular_syste | 0.82375568 |
| 111 | MP0010234_abnormal_vibrissa_follicle | 0.80397589 |
| 112 | MP0001915_intracranial_hemorrhage | 0.79617212 |
| 113 | MP0010307_abnormal_tumor_latency | 0.79091591 |
| 114 | MP0002115_abnormal_skeleton_extremities | 0.78769625 |
| 115 | MP0000750_abnormal_muscle_regeneration | 0.76653264 |
| 116 | MP0000432_abnormal_head_morphology | 0.76568111 |
| 117 | MP0000163_abnormal_cartilage_morphology | 0.76317515 |
| 118 | MP0004197_abnormal_fetal_growth/weight/ | 0.75071705 |
| 119 | MP0000343_altered_response_to | 0.73987493 |
| 120 | MP0008875_abnormal_xenobiotic_pharmacok | 0.73516230 |
| 121 | MP0001784_abnormal_fluid_regulation | 0.71883088 |
| 122 | MP0003943_abnormal_hepatobiliary_system | 0.71117580 |
| 123 | MP0000678_abnormal_parathyroid_gland | 0.70875116 |
| 124 | MP0004084_abnormal_cardiac_muscle | 0.70030668 |
| 125 | MP0003191_abnormal_cellular_cholesterol | 0.69736765 |
| 126 | MP0004134_abnormal_chest_morphology | 0.68557010 |
| 127 | MP0002108_abnormal_muscle_morphology | 0.67450005 |
| 128 | MP0002896_abnormal_bone_mineralization | 0.67182217 |
| 129 | MP0002177_abnormal_outer_ear | 0.66810764 |
| 130 | MP0002089_abnormal_postnatal_growth/wei | 0.66498318 |
| 131 | MP0002109_abnormal_limb_morphology | 0.65857449 |
| 132 | MP0002113_abnormal_skeleton_development | 0.65232659 |
| 133 | MP0003984_embryonic_growth_retardation | 0.64539540 |
| 134 | MP0001293_anophthalmia | 0.64393850 |
| 135 | MP0002088_abnormal_embryonic_growth/wei | 0.63719275 |
| 136 | MP0003795_abnormal_bone_structure | 0.59902065 |
| 137 | MP0003436_decreased_susceptibility_to | 0.59130994 |
| 138 | MP0005165_increased_susceptibility_to | 0.58422926 |
| 139 | MP0005076_abnormal_cell_differentiation | 0.57504513 |
| 140 | MP0004808_abnormal_hematopoietic_stem | 0.53624614 |
| 141 | MP0005381_digestive/alimentary_phenotyp | 0.52738860 |
| 142 | MP0005620_abnormal_muscle_contractility | 0.52585496 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Short 4th metacarpal (HP:0010044) | 6.23951863 |
| 2 | Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042) | 6.23951863 |
| 3 | Hematochezia (HP:0002573) | 5.06415980 |
| 4 | Polycythemia (HP:0001901) | 4.85266094 |
| 5 | Spontaneous hematomas (HP:0007420) | 4.46531833 |
| 6 | Abnormality of the 4th metacarpal (HP:0010012) | 4.45042836 |
| 7 | Aortic aneurysm (HP:0004942) | 4.26904928 |
| 8 | Slender build (HP:0001533) | 4.19867216 |
| 9 | Midline defect of the nose (HP:0004122) | 4.19571244 |
| 10 | Abnormality of dentin (HP:0010299) | 3.94757072 |
| 11 | Broad metatarsal (HP:0001783) | 3.83083704 |
| 12 | Cerebral aneurysm (HP:0004944) | 3.75326984 |
| 13 | Aortic dissection (HP:0002647) | 3.66041064 |
| 14 | Ankle contracture (HP:0006466) | 3.64386284 |
| 15 | Interstitial pulmonary disease (HP:0006530) | 3.62417129 |
| 16 | Shallow orbits (HP:0000586) | 3.61938368 |
| 17 | Spondylolisthesis (HP:0003302) | 3.48916859 |
| 18 | Protrusio acetabuli (HP:0003179) | 3.46988294 |
| 19 | Neonatal short-limb short stature (HP:0008921) | 3.39053959 |
| 20 | Camptodactyly of toe (HP:0001836) | 3.36989732 |
| 21 | Fragile skin (HP:0001030) | 3.36062168 |
| 22 | Cervical subluxation (HP:0003308) | 3.27547431 |
| 23 | Genu recurvatum (HP:0002816) | 3.27348338 |
| 24 | Hypoventilation (HP:0002791) | 3.21345984 |
| 25 | Peritonitis (HP:0002586) | 3.15664339 |
| 26 | Blue sclerae (HP:0000592) | 3.15409422 |
| 27 | Premature rupture of membranes (HP:0001788) | 3.14696560 |
| 28 | Shawl scrotum (HP:0000049) | 3.12745427 |
| 29 | Long toe (HP:0010511) | 3.09387070 |
| 30 | Esophageal varix (HP:0002040) | 3.05254074 |
| 31 | Hyperactive renin-angiotensin system (HP:0000841) | 3.00290561 |
| 32 | Pulmonary artery stenosis (HP:0004415) | 2.99728355 |
| 33 | Conjunctival telangiectasia (HP:0000524) | 2.98429952 |
| 34 | Renal duplication (HP:0000075) | 2.86442355 |
| 35 | Visceral angiomatosis (HP:0100761) | 2.79419913 |
| 36 | Mitral valve prolapse (HP:0001634) | 2.74038564 |
| 37 | Bowel diverticulosis (HP:0005222) | 2.73591585 |
| 38 | Abnormality of the nasal mucosa (HP:0000433) | 2.73435487 |
| 39 | Vertebral compression fractures (HP:0002953) | 2.73372781 |
| 40 | Hemangiomatosis (HP:0007461) | 2.59229859 |
| 41 | Asymmetry of the thorax (HP:0001555) | 2.58154363 |
| 42 | Lymphangioma (HP:0100764) | 2.57202934 |
| 43 | Aortic regurgitation (HP:0001659) | 2.56883030 |
| 44 | Joint contractures involving the joints of the feet (HP:0100492) | 2.54594245 |
| 45 | Flexion contracture of toe (HP:0005830) | 2.54594245 |
| 46 | Thoracolumbar scoliosis (HP:0002944) | 2.53362163 |
| 47 | Bladder diverticulum (HP:0000015) | 2.49790914 |
| 48 | Overgrowth (HP:0001548) | 2.49341790 |
| 49 | Wrist flexion contracture (HP:0001239) | 2.48848971 |
| 50 | Abnormality of the vasculature of the conjunctiva (HP:0008054) | 2.47225030 |
| 51 | Osteolytic defects of the hand bones (HP:0009699) | 2.43845333 |
| 52 | Osteolytic defects of the phalanges of the hand (HP:0009771) | 2.43845333 |
| 53 | Abnormality of skeletal muscle fiber size (HP:0012084) | 2.40363658 |
| 54 | Aneurysm (HP:0002617) | 2.36476231 |
| 55 | Dilatation of the ascending aorta (HP:0005111) | 2.35077319 |
| 56 | Ulnar bowing (HP:0003031) | 2.34786690 |
| 57 | Deep venous thrombosis (HP:0002625) | 2.32582958 |
| 58 | Hyperextensible skin (HP:0000974) | 2.31538544 |
| 59 | Wide cranial sutures (HP:0010537) | 2.29627851 |
| 60 | Bicuspid aortic valve (HP:0001647) | 2.27411145 |
| 61 | Disproportionate tall stature (HP:0001519) | 2.25677087 |
| 62 | Achilles tendon contracture (HP:0001771) | 2.24659833 |
| 63 | Knee flexion contracture (HP:0006380) | 2.23074816 |
| 64 | Abnormality of the parietal bone (HP:0002696) | 2.22573797 |
| 65 | Generalized amyotrophy (HP:0003700) | 2.21585358 |
| 66 | Abnormality of the distal phalanx of the thumb (HP:0009617) | 2.21402085 |
| 67 | Spinal rigidity (HP:0003306) | 2.20990217 |
| 68 | Atrophic scars (HP:0001075) | 2.20413998 |
| 69 | Chronic bronchitis (HP:0004469) | 2.20115222 |
| 70 | Wide anterior fontanel (HP:0000260) | 2.19620626 |
| 71 | Biconcave vertebral bodies (HP:0004586) | 2.19189916 |
| 72 | Vascular tortuosity (HP:0004948) | 2.18643718 |
| 73 | Rectal prolapse (HP:0002035) | 2.16742057 |
| 74 | Nonimmune hydrops fetalis (HP:0001790) | 2.16242340 |
| 75 | Follicular hyperkeratosis (HP:0007502) | 2.15576047 |
| 76 | Short nail (HP:0001799) | 2.11675884 |
| 77 | Broad toe (HP:0001837) | 2.07573494 |
| 78 | Syringomyelia (HP:0003396) | 2.07442427 |
| 79 | Spinal cord lesions (HP:0100561) | 2.07442427 |
| 80 | Arterial tortuosity (HP:0005116) | 2.05749718 |
| 81 | Abnormality of the acetabulum (HP:0003170) | 2.05322878 |
| 82 | Subacute progressive viral hepatitis (HP:0006572) | 2.05023299 |
| 83 | Abnormal delivery (HP:0001787) | 2.03005557 |
| 84 | Facial shape deformation (HP:0011334) | 2.00178604 |
| 85 | Potter facies (HP:0002009) | 2.00178604 |
| 86 | Deviation of the hallux (HP:0010051) | 1.99075220 |
| 87 | * Pulmonary hypertension (HP:0002092) | 1.97414608 |
| 88 | Mesomelia (HP:0003027) | 1.97136180 |
| 89 | Ovoid vertebral bodies (HP:0003300) | 1.96638094 |
| 90 | Aplasia/Hypoplasia of the clavicles (HP:0006710) | 1.96085323 |
| 91 | Limb-girdle muscle weakness (HP:0003325) | 1.95315786 |
| 92 | Venous insufficiency (HP:0005293) | 1.95036287 |
| 93 | Upper limb amyotrophy (HP:0009129) | 1.94138158 |
| 94 | Distal upper limb amyotrophy (HP:0007149) | 1.94138158 |
| 95 | Arachnodactyly (HP:0001166) | 1.93086491 |
| 96 | Coronal craniosynostosis (HP:0004440) | 1.92900404 |
| 97 | Anteriorly placed anus (HP:0001545) | 1.92559491 |
| 98 | Abnormality of the Achilles tendon (HP:0005109) | 1.92499999 |
| 99 | Hallux valgus (HP:0001822) | 1.91630154 |
| 100 | Short clavicles (HP:0000894) | 1.91137778 |
| 101 | Natal tooth (HP:0000695) | 1.90324499 |
| 102 | Redundant skin (HP:0001582) | 1.88987860 |
| 103 | Cutaneous finger syndactyly (HP:0010554) | 1.82228043 |
| 104 | Short hallux (HP:0010109) | 1.82210225 |
| 105 | Joint stiffness (HP:0001387) | 1.81507443 |
| 106 | Neoplasm of the heart (HP:0100544) | 1.81033650 |
| 107 | Inguinal hernia (HP:0000023) | 1.80714267 |
| 108 | Cerebral hemorrhage (HP:0001342) | 1.80277889 |
| 109 | Muscle fiber cytoplasmatic inclusion bodies (HP:0100303) | 1.80143964 |
| 110 | Keratoconus (HP:0000563) | 1.79184964 |
| 111 | Increased corneal curvature (HP:0100692) | 1.79184964 |
| 112 | Intestinal polyp (HP:0005266) | 1.78078950 |
| 113 | * Abnormality of the fetal cardiovascular system (HP:0010948) | 1.77091077 |
| 114 | * Abnormal umbilical cord blood vessels (HP:0011403) | 1.77091077 |
| 115 | * Single umbilical artery (HP:0001195) | 1.77091077 |
| 116 | Portal hypertension (HP:0001409) | 1.76654960 |
| 117 | Joint laxity (HP:0001388) | 1.76063624 |
| 118 | Delayed cranial suture closure (HP:0000270) | 1.75981488 |
| 119 | Intestinal polyposis (HP:0200008) | 1.75697128 |
| 120 | Round ear (HP:0100830) | 1.75366925 |
| 121 | Nemaline bodies (HP:0003798) | 1.75250517 |
| 122 | Down-sloping shoulders (HP:0200021) | 1.73821290 |
| 123 | Mildly elevated creatine phosphokinase (HP:0008180) | 1.72925431 |
| 124 | Trigonocephaly (HP:0000243) | 1.71557140 |
| 125 | Soft skin (HP:0000977) | 1.71294991 |
| 126 | Elbow flexion contracture (HP:0002987) | 1.70612059 |
| 127 | Venous abnormality (HP:0002624) | 1.70147896 |
| 128 | Aortic valve stenosis (HP:0001650) | 1.70112486 |
| 129 | Premature skin wrinkling (HP:0100678) | 1.69997537 |
| 130 | Mucosal telangiectasiae (HP:0100579) | 1.69644995 |
| 131 | Abnormal ossification of hand bones (HP:0005921) | 1.69282233 |
| 132 | Protruding ear (HP:0000411) | 1.68679333 |
| 133 | Ectopia lentis (HP:0001083) | 1.68172164 |
| 134 | Hypoplasia of the maxilla (HP:0000327) | 1.66975319 |
| 135 | Type 1 muscle fiber predominance (HP:0003803) | 1.66753487 |
| 136 | Broad hallux (HP:0010055) | 1.66569740 |
| 137 | Mitral regurgitation (HP:0001653) | 1.66519862 |
| 138 | Cupped ribs (HP:0000887) | 1.66502915 |
| 139 | Increased variability in muscle fiber diameter (HP:0003557) | 1.66481181 |
| 140 | Femoral bowing (HP:0002980) | 1.66041356 |
| 141 | Osteopenia (HP:0000938) | 1.65483947 |
| 142 | Absent eyebrow (HP:0002223) | 1.65467482 |
| 143 | Broad face (HP:0000283) | 1.65300225 |
| 144 | Wormian bones (HP:0002645) | 1.64168983 |
| 145 | Supernumerary ribs (HP:0005815) | 1.63644207 |
| 146 | Selective tooth agenesis (HP:0001592) | 1.63582483 |
| 147 | Thin bony cortex (HP:0002753) | 1.63466350 |
| 148 | Increased connective tissue (HP:0009025) | 1.62829360 |
| 149 | Skull defect (HP:0001362) | 1.62785431 |
| 150 | Delayed closure of the anterior fontanelle (HP:0001476) | 1.62389610 |
| 151 | Congenital glaucoma (HP:0001087) | 1.62358136 |
| 152 | Bronchomalacia (HP:0002780) | 1.62176105 |
| 153 | Bowing of the arm (HP:0006488) | 1.61977056 |
| 154 | Bowed forearm bones (HP:0003956) | 1.61977056 |
| 155 | Hyperacusis (HP:0010780) | 1.61341264 |
| 156 | Buphthalmos (HP:0000557) | 1.60338998 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TIE1 | 7.06173395 |
| 2 | GRK7 | 4.02052239 |
| 3 | TGFBR2 | 3.99537398 |
| 4 | EPHA3 | 3.93152962 |
| 5 | EPHB2 | 3.73082575 |
| 6 | RIPK1 | 3.10328801 |
| 7 | LATS1 | 3.07738727 |
| 8 | KDR | 3.06963422 |
| 9 | TGFBR1 | 2.95259726 |
| 10 | TTN | 2.81063328 |
| 11 | MYLK | 2.76227903 |
| 12 | PDGFRA | 2.73691620 |
| 13 | GRK5 | 2.42451597 |
| 14 | PIK3CG | 2.40340397 |
| 15 | NTRK1 | 2.19776390 |
| 16 | PTK6 | 2.03033608 |
| 17 | PAK4 | 1.99240506 |
| 18 | GRK1 | 1.89356321 |
| 19 | ERBB4 | 1.82935704 |
| 20 | DDR2 | 1.77203778 |
| 21 | AKT3 | 1.73136353 |
| 22 | FGFR2 | 1.71220921 |
| 23 | ADRBK2 | 1.69935872 |
| 24 | LRRK2 | 1.68782168 |
| 25 | FER | 1.67811056 |
| 26 | PTK2B | 1.61424311 |
| 27 | TRIB3 | 1.59930497 |
| 28 | PIM2 | 1.50514329 |
| 29 | DMPK | 1.46916134 |
| 30 | FLT3 | 1.42918181 |
| 31 | CDC42BPA | 1.41510942 |
| 32 | LATS2 | 1.40026962 |
| 33 | MAP3K10 | 1.36522460 |
| 34 | PTK2 | 1.35357747 |
| 35 | PNCK | 1.32559609 |
| 36 | MET | 1.31757831 |
| 37 | PAK2 | 1.28818271 |
| 38 | ERN1 | 1.28559146 |
| 39 | STK3 | 1.27358884 |
| 40 | STK10 | 1.16801352 |
| 41 | SMG1 | 1.15662500 |
| 42 | MELK | 1.15556165 |
| 43 | PDGFRB | 1.09178806 |
| 44 | IRAK3 | 1.01420244 |
| 45 | SIK1 | 0.99670927 |
| 46 | STK38 | 0.99604951 |
| 47 | FGFR4 | 0.99344749 |
| 48 | TAOK2 | 0.99225009 |
| 49 | GRK6 | 0.98988387 |
| 50 | JAK1 | 0.94249815 |
| 51 | MOS | 0.92735040 |
| 52 | CDK12 | 0.92389244 |
| 53 | ILK | 0.89821499 |
| 54 | PRKG2 | 0.88470369 |
| 55 | PKN2 | 0.87750379 |
| 56 | DYRK1B | 0.85932155 |
| 57 | NUAK1 | 0.83774958 |
| 58 | EPHB1 | 0.78984533 |
| 59 | MAP2K3 | 0.75247408 |
| 60 | CSK | 0.75164377 |
| 61 | RPS6KA2 | 0.73810696 |
| 62 | CDK6 | 0.72541391 |
| 63 | FGFR1 | 0.71682561 |
| 64 | RPS6KA4 | 0.70002784 |
| 65 | TRPM7 | 0.67619397 |
| 66 | PRPF4B | 0.64940158 |
| 67 | PRKD1 | 0.64374659 |
| 68 | GSK3A | 0.63651463 |
| 69 | PAK6 | 0.61061448 |
| 70 | NEK9 | 0.60871693 |
| 71 | CLK1 | 0.58768764 |
| 72 | BMX | 0.57934291 |
| 73 | ROCK1 | 0.57852491 |
| 74 | FGFR3 | 0.57790386 |
| 75 | PRKCH | 0.53139012 |
| 76 | MAP3K8 | 0.52728611 |
| 77 | TESK1 | 0.52537527 |
| 78 | ERBB2 | 0.51575119 |
| 79 | MTOR | 0.51413327 |
| 80 | MAP3K3 | 0.50945717 |
| 81 | CAMK2G | 0.48876506 |
| 82 | MAP2K2 | 0.47458951 |
| 83 | MAPK4 | 0.46992781 |
| 84 | MKNK2 | 0.46690117 |
| 85 | PRKD2 | 0.45913414 |
| 86 | CAMK1D | 0.45549713 |
| 87 | TLK1 | 0.45297292 |
| 88 | EPHA2 | 0.42521567 |
| 89 | MAP3K5 | 0.41692223 |
| 90 | STK38L | 0.40593365 |
| 91 | SRC | 0.40149242 |
| 92 | EGFR | 0.38966165 |
| 93 | MAPKAPK2 | 0.36606765 |
| 94 | TYK2 | 0.35966273 |
| 95 | MKNK1 | 0.35810048 |
| 96 | INSR | 0.33513371 |
| 97 | TBK1 | 0.33321947 |
| 98 | ICK | 0.33173052 |
| 99 | HIPK2 | 0.32275025 |
| 100 | ADRBK1 | 0.32218762 |
| 101 | TAF1 | 0.30451341 |
| 102 | DAPK3 | 0.30263487 |
| 103 | MAP3K14 | 0.28984291 |
| 104 | MAPK7 | 0.28446671 |
| 105 | CDK8 | 0.28354281 |
| 106 | CHUK | 0.28211766 |
| 107 | ZAK | 0.28059835 |
| 108 | ROCK2 | 0.27787624 |
| 109 | IGF1R | 0.27296892 |
| 110 | SRPK1 | 0.27083070 |
| 111 | PLK2 | 0.26994073 |
| 112 | NLK | 0.26894265 |
| 113 | CDK9 | 0.26099700 |
| 114 | ERBB3 | 0.25473790 |
| 115 | JAK3 | 0.25002357 |
| 116 | PAK1 | 0.24921022 |
| 117 | KIT | 0.24910359 |
| 118 | LIMK1 | 0.24540538 |
| 119 | MAP2K1 | 0.22961803 |
| 120 | MAP3K7 | 0.22497238 |
| 121 | TEC | 0.21565759 |
| 122 | PDPK1 | 0.21441696 |
| 123 | BRD4 | 0.20973106 |
| 124 | CDK7 | 0.20944582 |
| 125 | CAMK1G | 0.20821760 |
| 126 | RPS6KL1 | 0.20465806 |
| 127 | RPS6KC1 | 0.20465806 |
| 128 | CSNK1A1L | 0.20372574 |
| 129 | ABL1 | 0.19992637 |
| 130 | RPS6KA6 | 0.19519130 |
| 131 | PRKAA2 | 0.18622092 |
| 132 | STK4 | 0.18344954 |
| 133 | MARK3 | 0.17507362 |
| 134 | ABL2 | 0.16822830 |
| 135 | AKT2 | 0.16229121 |
| 136 | MST1R | 0.16144477 |
| 137 | ZAP70 | 0.15511122 |
| 138 | CSNK1G1 | 0.14272955 |
| 139 | BUB1 | 0.14154260 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 4.48147006 |
| 2 | ECM-receptor interaction_Homo sapiens_hsa04512 | 3.22401689 |
| 3 | Adherens junction_Homo sapiens_hsa04520 | 3.07105387 |
| 4 | Basal cell carcinoma_Homo sapiens_hsa05217 | 2.80809762 |
| 5 | Focal adhesion_Homo sapiens_hsa04510 | 2.79355571 |
| 6 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 2.46000355 |
| 7 | Hippo signaling pathway_Homo sapiens_hsa04390 | 2.32226500 |
| 8 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 2.28869017 |
| 9 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 2.22429217 |
| 10 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 2.17369055 |
| 11 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 2.08718710 |
| 12 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 2.02585733 |
| 13 | Small cell lung cancer_Homo sapiens_hsa05222 | 1.96553084 |
| 14 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.96362986 |
| 15 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 1.88851743 |
| 16 | Notch signaling pathway_Homo sapiens_hsa04330 | 1.78998094 |
| 17 | Tight junction_Homo sapiens_hsa04530 | 1.77433724 |
| 18 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 1.77359086 |
| 19 | Axon guidance_Homo sapiens_hsa04360 | 1.70283531 |
| 20 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 1.65401138 |
| 21 | Platelet activation_Homo sapiens_hsa04611 | 1.61841761 |
| 22 | Other glycan degradation_Homo sapiens_hsa00511 | 1.58149108 |
| 23 | Renin-angiotensin system_Homo sapiens_hsa04614 | 1.55336337 |
| 24 | Pathways in cancer_Homo sapiens_hsa05200 | 1.54494604 |
| 25 | Sulfur metabolism_Homo sapiens_hsa00920 | 1.53477845 |
| 26 | Bladder cancer_Homo sapiens_hsa05219 | 1.51623819 |
| 27 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.49663496 |
| 28 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 1.49548254 |
| 29 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 1.47835683 |
| 30 | Amoebiasis_Homo sapiens_hsa05146 | 1.47392117 |
| 31 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.45664743 |
| 32 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.45621639 |
| 33 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 1.41854687 |
| 34 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.37952691 |
| 35 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 1.37742792 |
| 36 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 1.34122361 |
| 37 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 1.30307903 |
| 38 | Malaria_Homo sapiens_hsa05144 | 1.30008899 |
| 39 | Prion diseases_Homo sapiens_hsa05020 | 1.29265733 |
| 40 | Renal cell carcinoma_Homo sapiens_hsa05211 | 1.25012332 |
| 41 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 1.24018888 |
| 42 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 1.19614890 |
| 43 | Prostate cancer_Homo sapiens_hsa05215 | 1.15763376 |
| 44 | Melanogenesis_Homo sapiens_hsa04916 | 1.15357291 |
| 45 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.14826770 |
| 46 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 1.12592687 |
| 47 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 1.10553910 |
| 48 | HTLV-I infection_Homo sapiens_hsa05166 | 1.09798211 |
| 49 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.08624908 |
| 50 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.08282298 |
| 51 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 1.06781350 |
| 52 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 1.04751591 |
| 53 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 1.04082270 |
| 54 | Viral myocarditis_Homo sapiens_hsa05416 | 1.03042253 |
| 55 | Wnt signaling pathway_Homo sapiens_hsa04310 | 1.01472055 |
| 56 | Thyroid cancer_Homo sapiens_hsa05216 | 0.99995115 |
| 57 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.99247809 |
| 58 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.98904699 |
| 59 | Renin secretion_Homo sapiens_hsa04924 | 0.96694072 |
| 60 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.95472430 |
| 61 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.95448854 |
| 62 | Gap junction_Homo sapiens_hsa04540 | 0.91325880 |
| 63 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.90345290 |
| 64 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.87799490 |
| 65 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.87666551 |
| 66 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.87034339 |
| 67 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.86004863 |
| 68 | Melanoma_Homo sapiens_hsa05218 | 0.85334942 |
| 69 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.84731972 |
| 70 | Colorectal cancer_Homo sapiens_hsa05210 | 0.83213138 |
| 71 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.79793336 |
| 72 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.78607561 |
| 73 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.77340381 |
| 74 | Lysosome_Homo sapiens_hsa04142 | 0.76475021 |
| 75 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.76413430 |
| 76 | Shigellosis_Homo sapiens_hsa05131 | 0.76151685 |
| 77 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.75709742 |
| 78 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.75664513 |
| 79 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.75204636 |
| 80 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.74701202 |
| 81 | Mineral absorption_Homo sapiens_hsa04978 | 0.74447315 |
| 82 | Cocaine addiction_Homo sapiens_hsa05030 | 0.74271374 |
| 83 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.73666795 |
| 84 | Ras signaling pathway_Homo sapiens_hsa04014 | 0.67393502 |
| 85 | Pertussis_Homo sapiens_hsa05133 | 0.67360631 |
| 86 | Hepatitis B_Homo sapiens_hsa05161 | 0.65539028 |
| 87 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.65501277 |
| 88 | Endocytosis_Homo sapiens_hsa04144 | 0.65083528 |
| 89 | Salmonella infection_Homo sapiens_hsa05132 | 0.64295888 |
| 90 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.61043882 |
| 91 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 0.59367599 |
| 92 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.58817331 |
| 93 | Endometrial cancer_Homo sapiens_hsa05213 | 0.58598037 |
| 94 | TNF signaling pathway_Homo sapiens_hsa04668 | 0.58268688 |
| 95 | African trypanosomiasis_Homo sapiens_hsa05143 | 0.57619641 |
| 96 | Bile secretion_Homo sapiens_hsa04976 | 0.57451944 |
| 97 | Retinol metabolism_Homo sapiens_hsa00830 | 0.57046565 |
| 98 | Cell cycle_Homo sapiens_hsa04110 | 0.55442320 |
| 99 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.55147154 |
| 100 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 0.54102650 |
| 101 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.54085902 |
| 102 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.52136458 |
| 103 | Phagosome_Homo sapiens_hsa04145 | 0.51953053 |
| 104 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.51821172 |
| 105 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.51776717 |
| 106 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.51629588 |
| 107 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.51517627 |
| 108 | Alcoholism_Homo sapiens_hsa05034 | 0.50749031 |
| 109 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.50415783 |
| 110 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.49751889 |
| 111 | Insulin resistance_Homo sapiens_hsa04931 | 0.48468376 |
| 112 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.46447440 |
| 113 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.46014667 |
| 114 | Apoptosis_Homo sapiens_hsa04210 | 0.45754580 |
| 115 | Histidine metabolism_Homo sapiens_hsa00340 | 0.45661998 |
| 116 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 0.45320686 |
| 117 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.45104690 |
| 118 | FoxO signaling pathway_Homo sapiens_hsa04068 | 0.44493710 |
| 119 | Lysine degradation_Homo sapiens_hsa00310 | 0.42706385 |
| 120 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.42607072 |
| 121 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.42444330 |
| 122 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.42286615 |
| 123 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.41784375 |
| 124 | Glioma_Homo sapiens_hsa05214 | 0.40716265 |
| 125 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.40414509 |
| 126 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.38212829 |
| 127 | Chagas disease (American trypanosomiasis)_Homo sapiens_hsa05142 | 0.35259170 |
| 128 | Hepatitis C_Homo sapiens_hsa05160 | 0.34552759 |
| 129 | Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750 | 0.34517592 |
| 130 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.33065568 |
| 131 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.31574021 |
| 132 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.30399423 |

