

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | hemidesmosome assembly (GO:0031581) | 7.09524367 |
| 2 | protein heterotrimerization (GO:0070208) | 5.88054547 |
| 3 | planar cell polarity pathway involved in neural tube closure (GO:0090179) | 5.45645578 |
| 4 | bone trabecula formation (GO:0060346) | 5.33863762 |
| 5 | regulation of establishment of planar polarity involved in neural tube closure (GO:0090178) | 5.07224964 |
| 6 | lateral sprouting from an epithelium (GO:0060601) | 4.89126225 |
| 7 | outer ear morphogenesis (GO:0042473) | 4.61695908 |
| 8 | paraxial mesoderm development (GO:0048339) | 4.56060922 |
| 9 | G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199 | 4.20168900 |
| 10 | anatomical structure regression (GO:0060033) | 4.19706638 |
| 11 | endodermal cell differentiation (GO:0035987) | 4.14863159 |
| 12 | regulation of branching involved in prostate gland morphogenesis (GO:0060687) | 4.10296714 |
| 13 | lung-associated mesenchyme development (GO:0060484) | 4.08368918 |
| 14 | collagen metabolic process (GO:0032963) | 3.97372095 |
| 15 | collagen catabolic process (GO:0030574) | 3.94835901 |
| 16 | desmosome organization (GO:0002934) | 3.94779874 |
| 17 | collagen fibril organization (GO:0030199) | 3.93770096 |
| 18 | polarized epithelial cell differentiation (GO:0030859) | 3.89103708 |
| 19 | non-canonical Wnt signaling pathway (GO:0035567) | 3.87215848 |
| 20 | neuron projection extension involved in neuron projection guidance (GO:1902284) | 3.85830177 |
| 21 | axon extension involved in axon guidance (GO:0048846) | 3.85830177 |
| 22 | negative regulation of chondrocyte differentiation (GO:0032331) | 3.83481226 |
| 23 | multicellular organismal macromolecule metabolic process (GO:0044259) | 3.74869534 |
| 24 | Wnt signaling pathway, planar cell polarity pathway (GO:0060071) | 3.69736901 |
| 25 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.63899046 |
| 26 | multicellular organismal catabolic process (GO:0044243) | 3.63411946 |
| 27 | mesenchyme morphogenesis (GO:0072132) | 3.62110840 |
| 28 | establishment of planar polarity (GO:0001736) | 3.61437479 |
| 29 | establishment of tissue polarity (GO:0007164) | 3.61437479 |
| 30 | pattern specification involved in kidney development (GO:0061004) | 3.59550285 |
| 31 | cell proliferation involved in metanephros development (GO:0072203) | 3.57643343 |
| 32 | extracellular matrix disassembly (GO:0022617) | 3.54665404 |
| 33 | regulation of establishment of planar polarity (GO:0090175) | 3.53998643 |
| 34 | cochlea morphogenesis (GO:0090103) | 3.50999560 |
| 35 | endocardial cushion morphogenesis (GO:0003203) | 3.50166080 |
| 36 | hippo signaling (GO:0035329) | 3.49368126 |
| 37 | mannose metabolic process (GO:0006013) | 3.49342440 |
| 38 | multicellular organismal metabolic process (GO:0044236) | 3.49111272 |
| 39 | negative regulation of catenin import into nucleus (GO:0035414) | 3.49078931 |
| 40 | cell-substrate junction assembly (GO:0007044) | 3.48975884 |
| 41 | mesenchymal cell proliferation (GO:0010463) | 3.46575216 |
| 42 | negative regulation of fatty acid transport (GO:2000192) | 3.44098548 |
| 43 | branching involved in salivary gland morphogenesis (GO:0060445) | 3.44058050 |
| 44 | stress fiber assembly (GO:0043149) | 3.43190548 |
| 45 | negative regulation of cartilage development (GO:0061037) | 3.40301918 |
| 46 | embryonic cranial skeleton morphogenesis (GO:0048701) | 3.39966863 |
| 47 | regulation of heart morphogenesis (GO:2000826) | 3.37947080 |
| 48 | negative regulation of cell fate specification (GO:0009996) | 3.37306797 |
| 49 | positive regulation of blood vessel endothelial cell migration (GO:0043536) | 3.36416076 |
| 50 | collecting duct development (GO:0072044) | 3.35737226 |
| 51 | establishment of apical/basal cell polarity (GO:0035089) | 3.35236166 |
| 52 | skin morphogenesis (GO:0043589) | 3.32427951 |
| 53 | proximal/distal pattern formation (GO:0009954) | 3.30609313 |
| 54 | negative regulation of erythrocyte differentiation (GO:0045647) | 3.30218967 |
| 55 | vascular endothelial growth factor signaling pathway (GO:0038084) | 3.28709879 |
| 56 | bone morphogenesis (GO:0060349) | 3.25460902 |
| 57 | head development (GO:0060322) | 3.22919788 |
| 58 | regulation of extracellular matrix disassembly (GO:0010715) | 3.22078037 |
| 59 | middle ear morphogenesis (GO:0042474) | 3.22059998 |
| 60 | craniofacial suture morphogenesis (GO:0097094) | 3.20889581 |
| 61 | glomerular basement membrane development (GO:0032836) | 3.20590656 |
| 62 | negative regulation of embryonic development (GO:0045992) | 3.20549983 |
| 63 | virion attachment to host cell (GO:0019062) | 3.19397555 |
| 64 | adhesion of symbiont to host cell (GO:0044650) | 3.19397555 |
| 65 | regulation of transforming growth factor beta2 production (GO:0032909) | 3.18410376 |
| 66 | dichotomous subdivision of an epithelial terminal unit (GO:0060600) | 3.16578321 |
| 67 | hair cycle (GO:0042633) | 3.13917696 |
| 68 | molting cycle (GO:0042303) | 3.13917696 |
| 69 | regulation of hair follicle development (GO:0051797) | 3.11981347 |
| 70 | extracellular fibril organization (GO:0043206) | 3.10947241 |
| 71 | cell proliferation involved in kidney development (GO:0072111) | 3.09550060 |
| 72 | renal system development (GO:0072001) | 3.07979423 |
| 73 | blood vessel maturation (GO:0001955) | 3.07519027 |
| 74 | vascular endothelial growth factor receptor signaling pathway (GO:0048010) | 3.07185343 |
| 75 | positive regulation of epithelial to mesenchymal transition (GO:0010718) | 3.07034748 |
| 76 | adherens junction assembly (GO:0034333) | 3.06948957 |
| 77 | basement membrane organization (GO:0071711) | 3.06919744 |
| 78 | type B pancreatic cell proliferation (GO:0044342) | 3.06017839 |
| 79 | extracellular matrix assembly (GO:0085029) | 3.05508407 |
| 80 | focal adhesion assembly (GO:0048041) | 3.04241905 |
| 81 | cell-substrate adherens junction assembly (GO:0007045) | 3.04241905 |
| 82 | mesenchyme development (GO:0060485) | 3.04092073 |
| 83 | positive regulation of mesenchymal cell proliferation (GO:0002053) | 3.03798749 |
| 84 | negative regulation of axon extension involved in axon guidance (GO:0048843) | 3.00420270 |
| 85 | digestive tract morphogenesis (GO:0048546) | 2.98569855 |
| 86 | axis elongation (GO:0003401) | 2.98385142 |
| 87 | barbed-end actin filament capping (GO:0051016) | 2.98100650 |
| 88 | cell surface receptor signaling pathway involved in heart development (GO:0061311) | 2.96742344 |
| 89 | bundle of His cell to Purkinje myocyte communication (GO:0086069) | 2.96079906 |
| 90 | wound healing, spreading of epidermal cells (GO:0035313) | 2.95102928 |
| 91 | embryonic skeletal joint morphogenesis (GO:0060272) | 2.93185953 |
| 92 | atrioventricular valve morphogenesis (GO:0003181) | 2.91318321 |
| 93 | odontogenesis (GO:0042476) | 2.90154711 |
| 94 | positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr | 2.89385069 |
| 95 | convergent extension (GO:0060026) | 2.88800934 |
| 96 | positive regulation of type I interferon-mediated signaling pathway (GO:0060340) | 2.88543002 |
| 97 | negative regulation of smooth muscle cell migration (GO:0014912) | 2.87908530 |
| 98 | regulation of mesenchymal cell proliferation (GO:0010464) | 2.87647820 |
| 99 | positive regulation of receptor recycling (GO:0001921) | 2.87340683 |
| 100 | epithelial cell fate commitment (GO:0072148) | 2.87292737 |
| 101 | regulation of cardioblast proliferation (GO:0003264) | 2.87168231 |
| 102 | regulation of secondary heart field cardioblast proliferation (GO:0003266) | 2.87168231 |
| 103 | peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800) | 2.86153861 |
| 104 | embryonic camera-type eye development (GO:0031076) | 2.86025961 |
| 105 | establishment of monopolar cell polarity (GO:0061162) | 2.85058546 |
| 106 | establishment or maintenance of monopolar cell polarity (GO:0061339) | 2.85058546 |
| 107 | skin development (GO:0043588) | 2.83617078 |
| 108 | semaphorin-plexin signaling pathway (GO:0071526) | 2.83171308 |
| 109 | venous blood vessel morphogenesis (GO:0048845) | 2.82657874 |
| 110 | substrate-dependent cell migration (GO:0006929) | 2.82470256 |
| 111 | regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095) | 2.82413816 |
| 112 | trabecula formation (GO:0060343) | 2.82334199 |
| 113 | cellular response to vascular endothelial growth factor stimulus (GO:0035924) | 2.81824587 |
| 114 | regulation of hippo signaling (GO:0035330) | 2.80198527 |
| 115 | cranial suture morphogenesis (GO:0060363) | 2.79240333 |
| 116 | lymph vessel development (GO:0001945) | 2.78790354 |
| 117 | cell migration involved in heart development (GO:0060973) | 2.78333048 |
| 118 | mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337) | 2.78111927 |
| 119 | sequestering of extracellular ligand from receptor (GO:0035581) | 2.77003325 |
| 120 | regulation of cardioblast differentiation (GO:0051890) | 2.76630980 |
| 121 | eyelid development in camera-type eye (GO:0061029) | 2.75747180 |
| 122 | epithelial cell differentiation involved in prostate gland development (GO:0060742) | 2.75695346 |
| 123 | positive regulation of smoothened signaling pathway (GO:0045880) | 2.75093021 |
| 124 | mesodermal cell differentiation (GO:0048333) | 2.74956479 |
| 125 | negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067) | 2.72967805 |
| 126 | adhesion of symbiont to host (GO:0044406) | 2.72706277 |
| 127 | response to laminar fluid shear stress (GO:0034616) | 2.71208332 |
| 128 | fibril organization (GO:0097435) | 2.70635956 |
| 129 | endothelial cell morphogenesis (GO:0001886) | 2.67696448 |
| 130 | positive regulation of histone deacetylation (GO:0031065) | 2.64852474 |
| 131 | epithelial cell-cell adhesion (GO:0090136) | 2.63070363 |
| 132 | positive regulation of endothelial cell apoptotic process (GO:2000353) | 2.62233752 |
| 133 | cell adhesion mediated by integrin (GO:0033627) | 2.60456076 |
| 134 | chondroitin sulfate biosynthetic process (GO:0030206) | 2.58957020 |
| 135 | response to fluid shear stress (GO:0034405) | 2.57584773 |
| 136 | insulin-like growth factor receptor signaling pathway (GO:0048009) | 2.57470367 |
| 137 | hypotonic response (GO:0006971) | 2.56794132 |
| 138 | dermatan sulfate metabolic process (GO:0030205) | 2.52877819 |
| 139 | hyaluronan catabolic process (GO:0030214) | 2.51860092 |
| 140 | renal filtration (GO:0097205) | 2.50199048 |
| 141 | apoptotic process involved in morphogenesis (GO:0060561) | 2.48441704 |
| 142 | apoptotic cell clearance (GO:0043277) | 2.45563956 |
| 143 | extracellular matrix organization (GO:0030198) | 2.41982122 |
| 144 | extracellular structure organization (GO:0043062) | 2.40887900 |
| 145 | activation of JUN kinase activity (GO:0007257) | 2.40549303 |
| 146 | positive regulation of osteoblast proliferation (GO:0033690) | 2.39146274 |
| 147 | positive regulation of extracellular matrix organization (GO:1903055) | 2.39102936 |
| 148 | protein localization to endosome (GO:0036010) | 2.37979693 |
| 149 | embryonic process involved in female pregnancy (GO:0060136) | 2.35293145 |
| 150 | tooth mineralization (GO:0034505) | 2.34672695 |
| 151 | regulation of cell migration involved in sprouting angiogenesis (GO:0090049) | 2.34060805 |
| 152 | activation of Rac GTPase activity (GO:0032863) | 2.32269127 |
| 153 | regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547) | 2.31689848 |
| 154 | retina vasculature morphogenesis in camera-type eye (GO:0061299) | 2.31159081 |
| 155 | endothelial cell chemotaxis (GO:0035767) | 2.30699254 |
| 156 | integrin-mediated signaling pathway (GO:0007229) | 2.29815515 |
| 157 | negative regulation of osteoblast proliferation (GO:0033689) | 2.29703599 |
| 158 | peptide cross-linking (GO:0018149) | 2.27961329 |
| 159 | positive regulation of endothelial cell migration (GO:0010595) | 2.25961036 |
| 160 | positive regulation of Cdc42 GTPase activity (GO:0043089) | 2.25631986 |
| 161 | negative regulation of granulocyte differentiation (GO:0030853) | 2.24002891 |
| 162 | chondrocyte proliferation (GO:0035988) | 2.23322804 |
| 163 | regulation of blood vessel endothelial cell migration (GO:0043535) | 2.22469482 |
| 164 | cell migration involved in sprouting angiogenesis (GO:0002042) | 2.22441306 |
| 165 | negative regulation of osteoblast differentiation (GO:0045668) | 2.22338113 |
| 166 | endocardial cushion development (GO:0003197) | 2.22307486 |
| 167 | negative regulation of interleukin-8 production (GO:0032717) | 2.21863234 |
| 168 | regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition | 2.21711155 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 8.98073258 |
| 2 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 4.23256291 |
| 3 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 4.18714989 |
| 4 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 2.61275836 |
| 5 | EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse | 2.42585735 |
| 6 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 2.40687373 |
| 7 | ZNF263_19887448_ChIP-Seq_K562_Human | 2.33802992 |
| 8 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 2.29869953 |
| 9 | VDR_21846776_ChIP-Seq_THP-1_Human | 2.29252917 |
| 10 | WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 2.23439027 |
| 11 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 2.12524395 |
| 12 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 2.12358004 |
| 13 | RNF2_18974828_ChIP-Seq_MESCs_Mouse | 2.11970704 |
| 14 | EZH2_18974828_ChIP-Seq_MESCs_Mouse | 2.11970704 |
| 15 | TP53_20018659_ChIP-ChIP_R1E_Mouse | 2.10055429 |
| 16 | ZFP281_18757296_ChIP-ChIP_E14_Mouse | 2.07742963 |
| 17 | CLOCK_20551151_ChIP-Seq_293T_Human | 2.03514632 |
| 18 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 1.97186235 |
| 19 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.95282558 |
| 20 | * SOX9_24532713_ChIP-Seq_HFSC_Mouse | 1.88402428 |
| 21 | ZFP281_18358816_ChIP-ChIP_MESCs_Mouse | 1.85105556 |
| 22 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 1.83330931 |
| 23 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 1.81946783 |
| 24 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.79799962 |
| 25 | * KDM2B_26808549_Chip-Seq_SUP-B15_Human | 1.76776888 |
| 26 | PHC1_16625203_ChIP-ChIP_MESCs_Mouse | 1.73881646 |
| 27 | ELK3_25401928_ChIP-Seq_HUVEC_Human | 1.72932204 |
| 28 | TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.71305641 |
| 29 | SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 1.68933792 |
| 30 | ISL1_27105846_Chip-Seq_CPCs_Mouse | 1.68096549 |
| 31 | ZFP281_27345836_Chip-Seq_ESCs_Mouse | 1.67807931 |
| 32 | * RNF2_27304074_Chip-Seq_ESCs_Mouse | 1.67593885 |
| 33 | ERG_21242973_ChIP-ChIP_JURKAT_Human | 1.65930308 |
| 34 | NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human | 1.65114127 |
| 35 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 1.64702692 |
| 36 | MYC_22102868_ChIP-Seq_BL_Human | 1.64587213 |
| 37 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.64054615 |
| 38 | SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 1.63017217 |
| 39 | SUZ12_18692474_ChIP-Seq_MEFs_Mouse | 1.62462950 |
| 40 | * KDM2B_26808549_Chip-Seq_K562_Human | 1.62452318 |
| 41 | VDR_24763502_ChIP-Seq_THP-1_Human | 1.62155234 |
| 42 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 1.61463963 |
| 43 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 1.60140713 |
| 44 | ESR1_22446102_ChIP-Seq_UTERUS_Mouse | 1.60062818 |
| 45 | VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human | 1.54490602 |
| 46 | RING1B_27294783_Chip-Seq_NPCs_Mouse | 1.53140332 |
| 47 | * UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 1.52715022 |
| 48 | RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 1.52302614 |
| 49 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.52202564 |
| 50 | CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human | 1.51135031 |
| 51 | KDM2B_26808549_Chip-Seq_HPB-ALL_Human | 1.50981968 |
| 52 | RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 1.50357510 |
| 53 | CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 1.50201536 |
| 54 | WT1_19549856_ChIP-ChIP_CCG9911_Human | 1.49666481 |
| 55 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 1.47633992 |
| 56 | TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 1.46809566 |
| 57 | RING1B_27294783_Chip-Seq_ESCs_Mouse | 1.45106882 |
| 58 | RACK7_27058665_Chip-Seq_MCF-7_Human | 1.44561149 |
| 59 | EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.43819629 |
| 60 | TP53_22127205_ChIP-Seq_IMR90_Human | 1.42667045 |
| 61 | SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 1.41615225 |
| 62 | GATA2_21666600_ChIP-Seq_HMVEC_Human | 1.41417121 |
| 63 | EP300_21415370_ChIP-Seq_HL-1_Mouse | 1.40409927 |
| 64 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.40285562 |
| 65 | SMAD3_22036565_ChIP-Seq_ESCs_Mouse | 1.38035233 |
| 66 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 1.37638797 |
| 67 | CTCF_27219007_Chip-Seq_ERYTHROID_Human | 1.35790840 |
| 68 | * KDM2B_26808549_Chip-Seq_JURKAT_Human | 1.35202542 |
| 69 | DMRT1_23473982_ChIP-Seq_TESTES_Mouse | 1.34023471 |
| 70 | P300_27058665_Chip-Seq_ZR-75-30cells_Human | 1.30965399 |
| 71 | * KDM2B_26808549_Chip-Seq_DND41_Human | 1.30547697 |
| 72 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 1.27654451 |
| 73 | * SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.27446335 |
| 74 | STAT6_20620947_ChIP-Seq_CD4_POS_T_Human | 1.26827039 |
| 75 | RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human | 1.26583249 |
| 76 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.26497421 |
| 77 | STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse | 1.26382375 |
| 78 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 1.24657648 |
| 79 | * KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.24342273 |
| 80 | RUNX1_27514584_Chip-Seq_MCF-7_Human | 1.23941530 |
| 81 | MTF2_20144788_ChIP-Seq_MESCs_Mouse | 1.23587959 |
| 82 | MAF_26560356_Chip-Seq_TH1_Human | 1.23579402 |
| 83 | P63_26484246_Chip-Seq_KERATINOCYTES_Human | 1.21817483 |
| 84 | TCF3_18467660_ChIP-ChIP_MESCs_Mouse | 1.21311248 |
| 85 | SMAD_19615063_ChIP-ChIP_OVARY_Human | 1.21029388 |
| 86 | SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 1.20087354 |
| 87 | RUNX1_22412390_ChIP-Seq_EML_Mouse | 1.20051068 |
| 88 | NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 1.18697302 |
| 89 | KLF2_18264089_ChIP-ChIP_MESCs_Mouse | 1.18299872 |
| 90 | KLF5_18264089_ChIP-ChIP_MESCs_Mouse | 1.18299872 |
| 91 | KLF4_18264089_ChIP-ChIP_MESCs_Mouse | 1.18299872 |
| 92 | BRD4_27068464_Chip-Seq_AML-cells_Mouse | 1.18130458 |
| 93 | UBF1/2_26484160_Chip-Seq_HMECs_Human | 1.17918767 |
| 94 | ZIC3_20872845_ChIP-ChIP_MESCs_Mouse | 1.17514268 |
| 95 | FOXP3_17237761_ChIP-ChIP_TREG_Mouse | 1.17507086 |
| 96 | WT1_25993318_ChIP-Seq_PODOCYTE_Human | 1.15465716 |
| 97 | E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human | 1.15369234 |
| 98 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.15346797 |
| 99 | * SMC4_20622854_ChIP-Seq_HELA_Human | 1.14727679 |
| 100 | UTX_26944678_Chip-Seq_JUKART_Human | 1.14373992 |
| 101 | TCF3_18692474_ChIP-Seq_MEFs_Mouse | 1.13652797 |
| 102 | SMAD2_18955504_ChIP-ChIP_HaCaT_Human | 1.13335265 |
| 103 | SMAD3_18955504_ChIP-ChIP_HaCaT_Human | 1.13335265 |
| 104 | TP53_23651856_ChIP-Seq_MEFs_Mouse | 1.12463899 |
| 105 | SMC3_22415368_ChIP-Seq_MEFs_Mouse | 1.12348206 |
| 106 | * KDM2B_26808549_Chip-Seq_SIL-ALL_Human | 1.12134629 |
| 107 | * CTCF_27219007_Chip-Seq_Bcells_Human | 1.12021073 |
| 108 | MECOM_23826213_ChIP-Seq_KASUMI_Mouse | 1.09541635 |
| 109 | CJUN_26792858_Chip-Seq_BT549_Human | 1.09505074 |
| 110 | CREB1_26743006_Chip-Seq_LNCaP-abl_Human | 1.09263995 |
| 111 | FOXO3_23340844_ChIP-Seq_DLD1_Human | 1.08735704 |
| 112 | RUNX1_20887958_ChIP-Seq_HPC-7_Mouse | 1.08727853 |
| 113 | DNAJC2_21179169_ChIP-ChIP_NT2_Human | 1.08636949 |
| 114 | * P68_20966046_ChIP-Seq_HELA_Human | 1.07994642 |
| 115 | SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 1.07259862 |
| 116 | OLIG2_26023283_ChIP-Seq_AINV15_Mouse | 1.06805722 |
| 117 | SMC1_22415368_ChIP-Seq_MEFs_Mouse | 1.06187124 |
| 118 | HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse | 1.05741111 |
| 119 | * GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.04873942 |
| 120 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.04696633 |
| 121 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.04373513 |
| 122 | TBX20_22080862_ChIP-Seq_HEART_Mouse | 1.04345364 |
| 123 | TBX20_22328084_ChIP-Seq_HEART_Mouse | 1.04345364 |
| 124 | NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse | 1.04018049 |
| 125 | * KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.03999306 |
| 126 | GATA1_19941827_ChIP-Seq_MEL_Mouse | 1.03843835 |
| 127 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 1.03721891 |
| 128 | MAF_26560356_Chip-Seq_TH2_Human | 1.03674663 |
| 129 | ATF3_27146783_Chip-Seq_COLON_Human | 1.03449583 |
| 130 | SPI1_23127762_ChIP-Seq_K562_Human | 1.00326368 |
| 131 | FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human | 0.99324468 |
| 132 | CREB1_26743006_Chip-Seq_LNCaP_Human | 0.99166645 |
| 133 | TCF7_22412390_ChIP-Seq_EML_Mouse | 0.99101730 |
| 134 | * TP63_22573176_ChIP-Seq_HFKS_Human | 0.98516946 |
| 135 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 0.98435680 |
| 136 | SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse | 0.97983278 |
| 137 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 0.96723591 |
| 138 | * EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human | 0.96535854 |
| 139 | NCOR1_26117541_ChIP-Seq_K562_Human | 0.96192263 |
| 140 | BRD4_25478319_ChIP-Seq_HGPS_Human | 0.96169184 |
| 141 | MYB_21317192_ChIP-Seq_ERMYB_Mouse | 0.94647945 |
| 142 | * SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 0.94572198 |
| 143 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 0.93773079 |
| 144 | AR_21572438_ChIP-Seq_LNCaP_Human | 0.93692789 |
| 145 | GATA1_19941826_ChIP-Seq_K562_Human | 0.93665603 |
| 146 | TET1_21490601_ChIP-Seq_MESCs_Mouse | 0.92789957 |
| 147 | TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 0.92049962 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0008438_abnormal_cutaneous_collagen | 4.56937079 |
| 2 | MP0005275_abnormal_skin_tensile | 4.06721173 |
| 3 | MP0003705_abnormal_hypodermis_morpholog | 3.48056605 |
| 4 | MP0010030_abnormal_orbit_morphology | 3.37293619 |
| 5 | MP0004272_abnormal_basement_membrane | 3.13901141 |
| 6 | MP0000579_abnormal_nail_morphology | 2.71909083 |
| 7 | MP0000537_abnormal_urethra_morphology | 2.61763899 |
| 8 | MP0005503_abnormal_tendon_morphology | 2.46981292 |
| 9 | MP0006054_spinal_hemorrhage | 2.38279072 |
| 10 | MP0002060_abnormal_skin_morphology | 2.35878007 |
| 11 | MP0000762_abnormal_tongue_morphology | 2.35433887 |
| 12 | MP0009053_abnormal_anal_canal | 2.35349889 |
| 13 | MP0001958_emphysema | 2.29753507 |
| 14 | MP0003091_abnormal_cell_migration | 2.14484251 |
| 15 | MP0003385_abnormal_body_wall | 2.09434249 |
| 16 | MP0010234_abnormal_vibrissa_follicle | 2.05808482 |
| 17 | MP0009250_abnormal_appendicular_skeleto | 2.03950858 |
| 18 | MP0001849_ear_inflammation | 2.02904088 |
| 19 | MP0002234_abnormal_pharynx_morphology | 1.95537767 |
| 20 | MP0000383_abnormal_hair_follicle | 1.91972343 |
| 21 | MP0001243_abnormal_dermal_layer | 1.81207712 |
| 22 | MP0003941_abnormal_skin_development | 1.81043169 |
| 23 | MP0005367_renal/urinary_system_phenotyp | 1.80668985 |
| 24 | MP0000516_abnormal_urinary_system | 1.80668985 |
| 25 | MP0002282_abnormal_trachea_morphology | 1.80275231 |
| 26 | MP0002098_abnormal_vibrissa_morphology | 1.80081799 |
| 27 | MP0005508_abnormal_skeleton_morphology | 1.78410763 |
| 28 | MP0000733_abnormal_muscle_development | 1.77185305 |
| 29 | MP0002249_abnormal_larynx_morphology | 1.76722569 |
| 30 | MP0005623_abnormal_meninges_morphology | 1.75935998 |
| 31 | MP0002933_joint_inflammation | 1.75334170 |
| 32 | MP0000049_abnormal_middle_ear | 1.72022339 |
| 33 | MP0000462_abnormal_digestive_system | 1.71121138 |
| 34 | MP0002932_abnormal_joint_morphology | 1.69487125 |
| 35 | MP0010678_abnormal_skin_adnexa | 1.69468912 |
| 36 | MP0000566_synostosis | 1.69083140 |
| 37 | MP0001542_abnormal_bone_strength | 1.67543124 |
| 38 | MP0002254_reproductive_system_inflammat | 1.66516352 |
| 39 | MP0000467_abnormal_esophagus_morphology | 1.63950952 |
| 40 | MP0000428_abnormal_craniofacial_morphol | 1.61519712 |
| 41 | MP0005058_abnormal_lysosome_morphology | 1.60272762 |
| 42 | MP0003755_abnormal_palate_morphology | 1.59890090 |
| 43 | MP0003942_abnormal_urinary_system | 1.59341801 |
| 44 | MP0003300_gastrointestinal_ulcer | 1.58484664 |
| 45 | MP0003279_aneurysm | 1.58121515 |
| 46 | MP0001346_abnormal_lacrimal_gland | 1.57067087 |
| 47 | MP0000534_abnormal_ureter_morphology | 1.51399776 |
| 48 | MP0003122_maternal_imprinting | 1.51327586 |
| 49 | MP0005257_abnormal_intraocular_pressure | 1.49918950 |
| 50 | MP0003115_abnormal_respiratory_system | 1.49658200 |
| 51 | MP0003937_abnormal_limbs/digits/tail_de | 1.46646746 |
| 52 | MP0002938_white_spotting | 1.46529909 |
| 53 | MP0003935_abnormal_craniofacial_develop | 1.46134927 |
| 54 | MP0005390_skeleton_phenotype | 1.46026849 |
| 55 | MP0002233_abnormal_nose_morphology | 1.43431470 |
| 56 | MP0002796_impaired_skin_barrier | 1.42926942 |
| 57 | MP0003436_decreased_susceptibility_to | 1.42430940 |
| 58 | MP0003172_abnormal_lysosome_physiology | 1.41161647 |
| 59 | MP0003566_abnormal_cell_adhesion | 1.34759701 |
| 60 | MP0002896_abnormal_bone_mineralization | 1.32171832 |
| 61 | MP0002116_abnormal_craniofacial_bone | 1.29965508 |
| 62 | MP0003191_abnormal_cellular_cholesterol | 1.28669202 |
| 63 | MP0010368_abnormal_lymphatic_system | 1.28606488 |
| 64 | MP0002998_abnormal_bone_remodeling | 1.28266390 |
| 65 | MP0005076_abnormal_cell_differentiation | 1.27542817 |
| 66 | MP0003453_abnormal_keratinocyte_physiol | 1.27297790 |
| 67 | MP0000377_abnormal_hair_follicle | 1.25612302 |
| 68 | MP0001216_abnormal_epidermal_layer | 1.23517470 |
| 69 | MP0001299_abnormal_eye_distance/ | 1.23482512 |
| 70 | MP0001340_abnormal_eyelid_morphology | 1.22198122 |
| 71 | MP0003283_abnormal_digestive_organ | 1.22167355 |
| 72 | MP0000432_abnormal_head_morphology | 1.19550372 |
| 73 | MP0002111_abnormal_tail_morphology | 1.19230936 |
| 74 | MP0002109_abnormal_limb_morphology | 1.17622235 |
| 75 | MP0001879_abnormal_lymphatic_vessel | 1.15580834 |
| 76 | MP0001533_abnormal_skeleton_physiology | 1.15453960 |
| 77 | MP0010771_integument_phenotype | 1.15220680 |
| 78 | MP0003828_pulmonary_edema | 1.14385658 |
| 79 | MP0005595_abnormal_vascular_smooth | 1.14344464 |
| 80 | MP0002653_abnormal_ependyma_morphology | 1.12960254 |
| 81 | MP0000163_abnormal_cartilage_morphology | 1.11571317 |
| 82 | MP0002115_abnormal_skeleton_extremities | 1.11237768 |
| 83 | MP0004947_skin_inflammation | 1.09981523 |
| 84 | MP0000647_abnormal_sebaceous_gland | 1.08096962 |
| 85 | MP0000013_abnormal_adipose_tissue | 1.06347813 |
| 86 | MP0009384_cardiac_valve_regurgitation | 1.03317793 |
| 87 | MP0005248_abnormal_Harderian_gland | 1.03163182 |
| 88 | MP0003123_paternal_imprinting | 1.02024391 |
| 89 | MP0002108_abnormal_muscle_morphology | 1.01119799 |
| 90 | MP0005409_darkened_coat_color | 1.00702309 |
| 91 | MP0003119_abnormal_digestive_system | 0.98389887 |
| 92 | MP0008260_abnormal_autophagy | 0.97004609 |
| 93 | MP0000858_altered_metastatic_potential | 0.96994944 |
| 94 | MP0002177_abnormal_outer_ear | 0.96362737 |
| 95 | MP0000427_abnormal_hair_cycle | 0.95974549 |
| 96 | MP0003303_peritoneal_inflammation | 0.95656816 |
| 97 | MP0000767_abnormal_smooth_muscle | 0.94837710 |
| 98 | MP0005164_abnormal_response_to | 0.93411352 |
| 99 | MP0002697_abnormal_eye_size | 0.93226819 |
| 100 | MP0005187_abnormal_penis_morphology | 0.92884666 |
| 101 | MP0001614_abnormal_blood_vessel | 0.90702932 |
| 102 | MP0005501_abnormal_skin_physiology | 0.89938579 |
| 103 | MP0005023_abnormal_wound_healing | 0.88256356 |
| 104 | MP0002295_abnormal_pulmonary_circulatio | 0.88191609 |
| 105 | MP0001270_distended_abdomen | 0.87564286 |
| 106 | MP0002877_abnormal_melanocyte_morpholog | 0.86379926 |
| 107 | MP0001348_abnormal_lacrimal_gland | 0.86305729 |
| 108 | MP0010352_gastrointestinal_tract_polyps | 0.85804225 |
| 109 | MP0002113_abnormal_skeleton_development | 0.84612026 |
| 110 | MP0000751_myopathy | 0.84480155 |
| 111 | MP0002092_abnormal_eye_morphology | 0.84006195 |
| 112 | MP0005388_respiratory_system_phenotype | 0.83803915 |
| 113 | MP0002133_abnormal_respiratory_system | 0.83803915 |
| 114 | MP0003795_abnormal_bone_structure | 0.83266626 |
| 115 | MP0002114_abnormal_axial_skeleton | 0.81962618 |
| 116 | MP0003724_increased_susceptibility_to | 0.80601092 |
| 117 | MP0002128_abnormal_blood_circulation | 0.80479635 |
| 118 | MP0001293_anophthalmia | 0.80066345 |
| 119 | MP0006138_congestive_heart_failure | 0.79382768 |
| 120 | MP0004858_abnormal_nervous_system | 0.79022822 |
| 121 | MP0008789_abnormal_olfactory_epithelium | 0.78407286 |
| 122 | MP0002925_abnormal_cardiovascular_devel | 0.77274657 |
| 123 | MP0004883_abnormal_blood_vessel | 0.76829208 |
| 124 | MP0000003_abnormal_adipose_tissue | 0.76392522 |
| 125 | MP0009278_abnormal_bone_marrow | 0.75642714 |
| 126 | MP0004197_abnormal_fetal_growth/weight/ | 0.75514797 |
| 127 | MP0001286_abnormal_eye_development | 0.75266871 |
| 128 | MP0004134_abnormal_chest_morphology | 0.74397957 |
| 129 | MP0001175_abnormal_lung_morphology | 0.74150286 |
| 130 | MP0003448_altered_tumor_morphology | 0.73485249 |
| 131 | MP0001177_atelectasis | 0.72732289 |
| 132 | MP0000759_abnormal_skeletal_muscle | 0.72711744 |
| 133 | MP0009840_abnormal_foam_cell | 0.71985061 |
| 134 | MP0009931_abnormal_skin_appearance | 0.71074887 |
| 135 | MP0000249_abnormal_blood_vessel | 0.71026504 |
| 136 | MP0001915_intracranial_hemorrhage | 0.70350189 |
| 137 | MP0002419_abnormal_innate_immunity | 0.67807031 |
| 138 | MP0001851_eye_inflammation | 0.67408599 |
| 139 | MP0003045_fibrosis | 0.65124776 |
| 140 | MP0000538_abnormal_urinary_bladder | 0.64152264 |
| 141 | MP0005375_adipose_tissue_phenotype | 0.63168037 |
| 142 | MP0005193_abnormal_anterior_eye | 0.62126217 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Atrophic scars (HP:0001075) | 6.52748316 |
| 2 | Milia (HP:0001056) | 6.35781406 |
| 3 | Premature rupture of membranes (HP:0001788) | 5.29409850 |
| 4 | Fragile skin (HP:0001030) | 4.76560463 |
| 5 | Short 4th metacarpal (HP:0010044) | 4.71482400 |
| 6 | Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042) | 4.71482400 |
| 7 | Protrusio acetabuli (HP:0003179) | 4.32532845 |
| 8 | Shallow orbits (HP:0000586) | 4.20693610 |
| 9 | Aortic aneurysm (HP:0004942) | 4.18839461 |
| 10 | Ankle contracture (HP:0006466) | 4.11508507 |
| 11 | Cervical subluxation (HP:0003308) | 3.96849609 |
| 12 | Abnormality of the 4th metacarpal (HP:0010012) | 3.82345712 |
| 13 | Abnormality of the parietal bone (HP:0002696) | 3.72978413 |
| 14 | Bladder diverticulum (HP:0000015) | 3.68038855 |
| 15 | Follicular hyperkeratosis (HP:0007502) | 3.55762511 |
| 16 | Vascular tortuosity (HP:0004948) | 3.50482878 |
| 17 | Ankyloglossia (HP:0010296) | 3.42961718 |
| 18 | Down-sloping shoulders (HP:0200021) | 3.42749224 |
| 19 | Fragile nails (HP:0001808) | 3.41967191 |
| 20 | Type 1 muscle fiber predominance (HP:0003803) | 3.40897259 |
| 21 | Broad metatarsal (HP:0001783) | 3.23391359 |
| 22 | Arterial tortuosity (HP:0005116) | 3.14267674 |
| 23 | Aortic dissection (HP:0002647) | 3.13516716 |
| 24 | Peritonitis (HP:0002586) | 3.12376302 |
| 25 | Spondylolisthesis (HP:0003302) | 3.07012351 |
| 26 | Aortic regurgitation (HP:0001659) | 2.98675043 |
| 27 | Neoplasm of the heart (HP:0100544) | 2.98659478 |
| 28 | Biconcave vertebral bodies (HP:0004586) | 2.97431662 |
| 29 | Cerebral aneurysm (HP:0004944) | 2.96705501 |
| 30 | Broad face (HP:0000283) | 2.89863910 |
| 31 | Soft skin (HP:0000977) | 2.87040985 |
| 32 | Mitral valve prolapse (HP:0001634) | 2.82464751 |
| 33 | Increased connective tissue (HP:0009025) | 2.81159226 |
| 34 | Neonatal short-limb short stature (HP:0008921) | 2.80227711 |
| 35 | Deviation of the hallux (HP:0010051) | 2.79915124 |
| 36 | Renal duplication (HP:0000075) | 2.78251721 |
| 37 | Onycholysis (HP:0001806) | 2.78045471 |
| 38 | Hallux valgus (HP:0001822) | 2.74354216 |
| 39 | Obstructive sleep apnea (HP:0002870) | 2.72856379 |
| 40 | Slender build (HP:0001533) | 2.72021911 |
| 41 | Vertebral compression fractures (HP:0002953) | 2.70352995 |
| 42 | Renovascular hypertension (HP:0100817) | 2.69450445 |
| 43 | Premature skin wrinkling (HP:0100678) | 2.68966092 |
| 44 | Mildly elevated creatine phosphokinase (HP:0008180) | 2.68136919 |
| 45 | Joint stiffness (HP:0001387) | 2.64332787 |
| 46 | Aneurysm (HP:0002617) | 2.61835544 |
| 47 | Abnormality of oral frenula (HP:0000190) | 2.61163193 |
| 48 | Thin bony cortex (HP:0002753) | 2.56176723 |
| 49 | Abnormality of the distal phalanx of the thumb (HP:0009617) | 2.53639455 |
| 50 | Spinal rigidity (HP:0003306) | 2.51409471 |
| 51 | Coronal craniosynostosis (HP:0004440) | 2.51171590 |
| 52 | Dilatation of the ascending aorta (HP:0005111) | 2.51088886 |
| 53 | Plantar hyperkeratosis (HP:0007556) | 2.50696652 |
| 54 | Bowel diverticulosis (HP:0005222) | 2.46173219 |
| 55 | Genu recurvatum (HP:0002816) | 2.45851564 |
| 56 | Short phalanx of the thumb (HP:0009660) | 2.45600191 |
| 57 | Morphological abnormality of the middle ear (HP:0008609) | 2.45500916 |
| 58 | Overriding aorta (HP:0002623) | 2.43873017 |
| 59 | Disproportionate tall stature (HP:0001519) | 2.42943165 |
| 60 | Supernumerary ribs (HP:0005815) | 2.36858298 |
| 61 | Turricephaly (HP:0000262) | 2.35619168 |
| 62 | Hyperacusis (HP:0010780) | 2.33661020 |
| 63 | Absent eyelashes (HP:0000561) | 2.33605626 |
| 64 | Abnormality of dentin (HP:0010299) | 2.33160312 |
| 65 | Hypotrichosis (HP:0001006) | 2.32877839 |
| 66 | Selective tooth agenesis (HP:0001592) | 2.31513944 |
| 67 | Aortic valve stenosis (HP:0001650) | 2.31418923 |
| 68 | Blue sclerae (HP:0000592) | 2.29941819 |
| 69 | Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658) | 2.29510730 |
| 70 | Overgrowth (HP:0001548) | 2.28705328 |
| 71 | Woolly hair (HP:0002224) | 2.28624556 |
| 72 | Pili torti (HP:0003777) | 2.26133917 |
| 73 | Ridged nail (HP:0001807) | 2.22806773 |
| 74 | Increased variability in muscle fiber diameter (HP:0003557) | 2.20956304 |
| 75 | Right ventricular cardiomyopathy (HP:0011663) | 2.20175103 |
| 76 | Flat cornea (HP:0007720) | 2.17659401 |
| 77 | Lymphangioma (HP:0100764) | 2.14951388 |
| 78 | Alopecia of scalp (HP:0002293) | 2.11832839 |
| 79 | Bronchomalacia (HP:0002780) | 2.11026144 |
| 80 | Abnormality of the acetabulum (HP:0003170) | 2.10641167 |
| 81 | Ulnar bowing (HP:0003031) | 2.06792468 |
| 82 | Supernumerary bones of the axial skeleton (HP:0009144) | 2.06552376 |
| 83 | Abnormality of the peritoneum (HP:0002585) | 2.05290020 |
| 84 | Elfin facies (HP:0004428) | 2.01897572 |
| 85 | Hyperextensible skin (HP:0000974) | 2.00829278 |
| 86 | Sprengel anomaly (HP:0000912) | 1.99956491 |
| 87 | Emphysema (HP:0002097) | 1.99874906 |
| 88 | Venous insufficiency (HP:0005293) | 1.96710132 |
| 89 | Distal lower limb amyotrophy (HP:0008944) | 1.94520396 |
| 90 | Wide anterior fontanel (HP:0000260) | 1.92631891 |
| 91 | Buphthalmos (HP:0000557) | 1.92360393 |
| 92 | Upper limb amyotrophy (HP:0009129) | 1.91596160 |
| 93 | Distal upper limb amyotrophy (HP:0007149) | 1.91596160 |
| 94 | Protruding ear (HP:0000411) | 1.90977369 |
| 95 | Interstitial pulmonary disease (HP:0006530) | 1.90960621 |
| 96 | Mucopolysacchariduria (HP:0008155) | 1.90362545 |
| 97 | Urinary glycosaminoglycan excretion (HP:0003541) | 1.90362545 |
| 98 | Skin pits (HP:0100276) | 1.89974935 |
| 99 | Mitral regurgitation (HP:0001653) | 1.89613979 |
| 100 | Osteolytic defects of the hand bones (HP:0009699) | 1.89246370 |
| 101 | Osteolytic defects of the phalanges of the hand (HP:0009771) | 1.89246370 |
| 102 | Nail dystrophy (HP:0008404) | 1.88431235 |
| 103 | Midline defect of the nose (HP:0004122) | 1.87786231 |
| 104 | Abnormal ossification of hand bones (HP:0005921) | 1.85973848 |
| 105 | Venous abnormality (HP:0002624) | 1.85919656 |
| 106 | Dysostosis multiplex (HP:0000943) | 1.85105339 |
| 107 | Abnormality of mucopolysaccharide metabolism (HP:0011020) | 1.84883166 |
| 108 | Abnormality of polysaccharide metabolism (HP:0011012) | 1.84883166 |
| 109 | Abnormality of glycosaminoglycan metabolism (HP:0004371) | 1.84883166 |
| 110 | Abnormality of skeletal muscle fiber size (HP:0012084) | 1.82354655 |
| 111 | Joint laxity (HP:0001388) | 1.81553648 |
| 112 | Aplasia involving bones of the upper limbs (HP:0009823) | 1.81340273 |
| 113 | Aplasia of the phalanges of the hand (HP:0009802) | 1.81340273 |
| 114 | Aplasia involving bones of the extremities (HP:0009825) | 1.81340273 |
| 115 | Atresia of the external auditory canal (HP:0000413) | 1.81009475 |
| 116 | Persistence of primary teeth (HP:0006335) | 1.80412574 |
| 117 | Abnormality of the nasolacrimal system (HP:0000614) | 1.80406037 |
| 118 | Abnormality of the 2nd finger (HP:0004100) | 1.80050111 |
| 119 | Wormian bones (HP:0002645) | 1.79202301 |
| 120 | Elbow flexion contracture (HP:0002987) | 1.78428620 |
| 121 | Absent frontal sinuses (HP:0002688) | 1.78143718 |
| 122 | Abnormality of skull ossification (HP:0002703) | 1.77560649 |
| 123 | Inguinal hernia (HP:0000023) | 1.77000625 |
| 124 | Natal tooth (HP:0000695) | 1.76221730 |
| 125 | Short nail (HP:0001799) | 1.75410002 |
| 126 | Camptodactyly of toe (HP:0001836) | 1.75056373 |
| 127 | Broad toe (HP:0001837) | 1.74702698 |
| 128 | Wrist flexion contracture (HP:0001239) | 1.74215654 |
| 129 | Arnold-Chiari malformation (HP:0002308) | 1.73284548 |
| 130 | Asymmetry of the thorax (HP:0001555) | 1.73243056 |
| 131 | Round ear (HP:0100830) | 1.72962082 |
| 132 | Insomnia (HP:0100785) | 1.72550835 |
| 133 | Infantile muscular hypotonia (HP:0008947) | 1.72523706 |
| 134 | Ectopia lentis (HP:0001083) | 1.71816321 |
| 135 | Thick nail (HP:0001805) | 1.71221651 |
| 136 | Alacrima (HP:0000522) | 1.70997298 |
| 137 | Nonimmune hydrops fetalis (HP:0001790) | 1.70956120 |
| 138 | Coxa vara (HP:0002812) | 1.70276741 |
| 139 | Stridor (HP:0010307) | 1.69344345 |
| 140 | Hemorrhage of the eye (HP:0011885) | 1.68885796 |
| 141 | Flexion contracture of toe (HP:0005830) | 1.68364455 |
| 142 | Joint contractures involving the joints of the feet (HP:0100492) | 1.68364455 |
| 143 | Cutaneous finger syndactyly (HP:0010554) | 1.67379155 |
| 144 | Difficulty climbing stairs (HP:0003551) | 1.66766910 |
| 145 | Hypoplasia of the iris (HP:0007676) | 1.66433831 |
| 146 | Dislocated radial head (HP:0003083) | 1.65688087 |
| 147 | Spinal cord lesions (HP:0100561) | 1.65068820 |
| 148 | Syringomyelia (HP:0003396) | 1.65068820 |
| 149 | Mild short stature (HP:0003502) | 1.63886112 |
| 150 | Abnormal delivery (HP:0001787) | 1.63836440 |
| 151 | Long eyelashes (HP:0000527) | 1.63078559 |
| 152 | Flared iliac wings (HP:0002869) | 1.58589864 |
| 153 | Broad ribs (HP:0000885) | 1.58250328 |
| 154 | Abnormal vertebral ossification (HP:0100569) | 1.58076397 |
| 155 | Distal lower limb muscle weakness (HP:0009053) | 1.57739511 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EPHB2 | 4.50005848 |
| 2 | TRIB3 | 3.67331027 |
| 3 | FGFR2 | 3.55487722 |
| 4 | MAP3K10 | 3.38277808 |
| 5 | LATS1 | 3.22295920 |
| 6 | DDR2 | 2.94395775 |
| 7 | RIPK1 | 2.87263901 |
| 8 | PKN2 | 2.78591045 |
| 9 | PDGFRA | 2.76967932 |
| 10 | SIK1 | 2.62061246 |
| 11 | LATS2 | 2.18311076 |
| 12 | FER | 2.14660954 |
| 13 | MAPK15 | 2.05726921 |
| 14 | PTK6 | 2.02555731 |
| 15 | FGFR4 | 1.97152769 |
| 16 | TTN | 1.92307395 |
| 17 | MYLK | 1.91662906 |
| 18 | TIE1 | 1.90713763 |
| 19 | PRPF4B | 1.88006003 |
| 20 | EEF2K | 1.81603360 |
| 21 | MAP3K6 | 1.78763158 |
| 22 | MAP2K3 | 1.76513340 |
| 23 | SMG1 | 1.76362653 |
| 24 | FGFR1 | 1.68139713 |
| 25 | EPHA2 | 1.68106741 |
| 26 | PAK4 | 1.66165821 |
| 27 | ICK | 1.65191887 |
| 28 | MAP4K1 | 1.62627843 |
| 29 | LRRK2 | 1.50973579 |
| 30 | TYRO3 | 1.50025652 |
| 31 | ERN1 | 1.49074175 |
| 32 | BMX | 1.46127309 |
| 33 | EPHA3 | 1.45530448 |
| 34 | TGFBR2 | 1.38971615 |
| 35 | TGFBR1 | 1.38309534 |
| 36 | PTK2 | 1.32712647 |
| 37 | ILK | 1.29846847 |
| 38 | TYK2 | 1.24344257 |
| 39 | PAK2 | 1.24291697 |
| 40 | DMPK | 1.22571379 |
| 41 | ZAP70 | 1.22025078 |
| 42 | NEK9 | 1.20960989 |
| 43 | MAPK7 | 1.20953092 |
| 44 | KIT | 1.16621025 |
| 45 | ERBB2 | 1.12215637 |
| 46 | PDGFRB | 1.11475213 |
| 47 | STK38 | 1.10817171 |
| 48 | MET | 1.10251753 |
| 49 | TBK1 | 1.05082445 |
| 50 | MTOR | 1.03078021 |
| 51 | JAK3 | 1.02973750 |
| 52 | LMTK2 | 1.02524684 |
| 53 | TESK1 | 1.02493697 |
| 54 | MAP3K3 | 1.01953857 |
| 55 | EPHB1 | 1.01808231 |
| 56 | PRKCI | 1.01610518 |
| 57 | MAP3K13 | 1.01470191 |
| 58 | RPS6KB2 | 0.99373740 |
| 59 | IRAK3 | 0.99319734 |
| 60 | TNK2 | 0.97329617 |
| 61 | DYRK1B | 0.96719512 |
| 62 | CDK12 | 0.95599884 |
| 63 | CDK6 | 0.92624636 |
| 64 | MST1R | 0.90988779 |
| 65 | STK3 | 0.89293105 |
| 66 | HIPK2 | 0.89021034 |
| 67 | TRPM7 | 0.85832506 |
| 68 | BLK | 0.85129240 |
| 69 | RPS6KA6 | 0.83219876 |
| 70 | MAP2K2 | 0.81389096 |
| 71 | MAP3K7 | 0.78943289 |
| 72 | BTK | 0.78936326 |
| 73 | PRKD1 | 0.77705217 |
| 74 | FGFR3 | 0.77143147 |
| 75 | CDC42BPA | 0.76191720 |
| 76 | ROCK1 | 0.75636299 |
| 77 | FLT3 | 0.74667626 |
| 78 | JAK1 | 0.73989478 |
| 79 | ROCK2 | 0.70816065 |
| 80 | PIK3CG | 0.70370403 |
| 81 | MAP3K14 | 0.70241194 |
| 82 | PTK2B | 0.70214547 |
| 83 | CAMK1G | 0.68811029 |
| 84 | RET | 0.66833996 |
| 85 | CSK | 0.66347124 |
| 86 | IRAK4 | 0.65113855 |
| 87 | FES | 0.63644232 |
| 88 | MAP3K1 | 0.62560709 |
| 89 | GRK6 | 0.61811429 |
| 90 | HCK | 0.57509613 |
| 91 | KDR | 0.56161632 |
| 92 | MAP3K2 | 0.54891805 |
| 93 | PDPK1 | 0.54311052 |
| 94 | RPS6KA4 | 0.54001555 |
| 95 | CDK7 | 0.52508819 |
| 96 | MAPK12 | 0.51819733 |
| 97 | MELK | 0.51396466 |
| 98 | TAOK1 | 0.50749543 |
| 99 | DAPK3 | 0.48923010 |
| 100 | STK38L | 0.48472770 |
| 101 | NTRK2 | 0.48292872 |
| 102 | PRKD3 | 0.47986076 |
| 103 | CAMK1D | 0.46194449 |
| 104 | IKBKE | 0.45187591 |
| 105 | GSK3A | 0.44978030 |
| 106 | ITK | 0.44295011 |
| 107 | PAK3 | 0.43976831 |
| 108 | TLK1 | 0.43683528 |
| 109 | PRKD2 | 0.42998870 |
| 110 | TAOK2 | 0.42348158 |
| 111 | MARK2 | 0.41868225 |
| 112 | SRC | 0.41739104 |
| 113 | PRKG2 | 0.41355035 |
| 114 | RPS6KA1 | 0.41260348 |
| 115 | IRAK2 | 0.41245465 |
| 116 | MOS | 0.41194587 |
| 117 | CHUK | 0.40278102 |
| 118 | CSF1R | 0.39791402 |
| 119 | PRKCH | 0.39050464 |
| 120 | MAP2K1 | 0.36641553 |
| 121 | CLK1 | 0.36272937 |
| 122 | CSNK1A1L | 0.34687173 |
| 123 | MAPK4 | 0.34659076 |
| 124 | RPS6KA2 | 0.34345460 |
| 125 | MKNK1 | 0.34323835 |
| 126 | MAP3K8 | 0.32850956 |
| 127 | MAPKAPK2 | 0.32524966 |
| 128 | NME2 | 0.32176906 |
| 129 | NTRK1 | 0.31474668 |
| 130 | AKT2 | 0.30645203 |
| 131 | MAPK1 | 0.30363125 |
| 132 | DAPK2 | 0.30194188 |
| 133 | KSR1 | 0.29944094 |
| 134 | STK24 | 0.28972910 |
| 135 | NEK2 | 0.28565474 |
| 136 | ADRBK1 | 0.27578183 |
| 137 | STK10 | 0.27264059 |
| 138 | CDK4 | 0.26768015 |
| 139 | RPS6KL1 | 0.24734890 |
| 140 | RPS6KC1 | 0.24734890 |
| 141 | CAMK4 | 0.24548055 |
| 142 | MAP3K11 | 0.24000678 |
| 143 | MAPK8 | 0.23527780 |
| 144 | ERBB3 | 0.22268885 |
| 145 | MAPK9 | 0.21595611 |
| 146 | AKT1 | 0.21554929 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Basal cell carcinoma_Homo sapiens_hsa05217 | 5.02936167 |
| 2 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 4.29288720 |
| 3 | ECM-receptor interaction_Homo sapiens_hsa04512 | 4.19702806 |
| 4 | Protein digestion and absorption_Homo sapiens_hsa04974 | 3.13435628 |
| 5 | Hippo signaling pathway_Homo sapiens_hsa04390 | 2.79832761 |
| 6 | Other glycan degradation_Homo sapiens_hsa00511 | 2.57970546 |
| 7 | Focal adhesion_Homo sapiens_hsa04510 | 2.54599815 |
| 8 | Notch signaling pathway_Homo sapiens_hsa04330 | 2.51496791 |
| 9 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 2.29465862 |
| 10 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 2.24361751 |
| 11 | Small cell lung cancer_Homo sapiens_hsa05222 | 2.18955688 |
| 12 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 2.08652833 |
| 13 | Adherens junction_Homo sapiens_hsa04520 | 2.01699468 |
| 14 | Amoebiasis_Homo sapiens_hsa05146 | 2.00073259 |
| 15 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 1.99671802 |
| 16 | Melanogenesis_Homo sapiens_hsa04916 | 1.96825613 |
| 17 | Wnt signaling pathway_Homo sapiens_hsa04310 | 1.90588335 |
| 18 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 1.88403427 |
| 19 | Axon guidance_Homo sapiens_hsa04360 | 1.75667651 |
| 20 | Bladder cancer_Homo sapiens_hsa05219 | 1.69719834 |
| 21 | Pathways in cancer_Homo sapiens_hsa05200 | 1.67878255 |
| 22 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 1.59368566 |
| 23 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 1.56175011 |
| 24 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 1.48223363 |
| 25 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 1.43267751 |
| 26 | Osteoclast differentiation_Homo sapiens_hsa04380 | 1.39537868 |
| 27 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 1.38680778 |
| 28 | Tight junction_Homo sapiens_hsa04530 | 1.33701589 |
| 29 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 1.31967901 |
| 30 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 1.31891657 |
| 31 | Endometrial cancer_Homo sapiens_hsa05213 | 1.27535242 |
| 32 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 1.23910235 |
| 33 | HTLV-I infection_Homo sapiens_hsa05166 | 1.20633042 |
| 34 | Colorectal cancer_Homo sapiens_hsa05210 | 1.19825385 |
| 35 | Renal cell carcinoma_Homo sapiens_hsa05211 | 1.19205430 |
| 36 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 1.15416224 |
| 37 | Prostate cancer_Homo sapiens_hsa05215 | 1.14366721 |
| 38 | Melanoma_Homo sapiens_hsa05218 | 1.13647218 |
| 39 | Toxoplasmosis_Homo sapiens_hsa05145 | 1.11453643 |
| 40 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 1.10302528 |
| 41 | Glioma_Homo sapiens_hsa05214 | 1.09728637 |
| 42 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 1.08207409 |
| 43 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 1.01815507 |
| 44 | Viral myocarditis_Homo sapiens_hsa05416 | 1.00754542 |
| 45 | Thyroid cancer_Homo sapiens_hsa05216 | 1.00325349 |
| 46 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.96861370 |
| 47 | Leishmaniasis_Homo sapiens_hsa05140 | 0.95732202 |
| 48 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 0.95029603 |
| 49 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.93571919 |
| 50 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.93093027 |
| 51 | Lysosome_Homo sapiens_hsa04142 | 0.92737872 |
| 52 | Toll-like receptor signaling pathway_Homo sapiens_hsa04620 | 0.92712333 |
| 53 | Chagas disease (American trypanosomiasis)_Homo sapiens_hsa05142 | 0.92254997 |
| 54 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.92250274 |
| 55 | Fc epsilon RI signaling pathway_Homo sapiens_hsa04664 | 0.92171236 |
| 56 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.91152697 |
| 57 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.83935883 |
| 58 | Hepatitis C_Homo sapiens_hsa05160 | 0.82270694 |
| 59 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.80905069 |
| 60 | RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622 | 0.80511190 |
| 61 | Pertussis_Homo sapiens_hsa05133 | 0.80487654 |
| 62 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.80192880 |
| 63 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.80043996 |
| 64 | Insulin resistance_Homo sapiens_hsa04931 | 0.78681022 |
| 65 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.75642612 |
| 66 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.75080777 |
| 67 | Platelet activation_Homo sapiens_hsa04611 | 0.74412430 |
| 68 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.73000283 |
| 69 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.72807329 |
| 70 | Gap junction_Homo sapiens_hsa04540 | 0.71100719 |
| 71 | Tuberculosis_Homo sapiens_hsa05152 | 0.70655414 |
| 72 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.70240466 |
| 73 | Influenza A_Homo sapiens_hsa05164 | 0.69781109 |
| 74 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.69626833 |
| 75 | T cell receptor signaling pathway_Homo sapiens_hsa04660 | 0.69121654 |
| 76 | Lysine degradation_Homo sapiens_hsa00310 | 0.68991943 |
| 77 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 0.68765257 |
| 78 | Shigellosis_Homo sapiens_hsa05131 | 0.67683295 |
| 79 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.66419166 |
| 80 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 0.63771084 |
| 81 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.63230771 |
| 82 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 0.62503156 |
| 83 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.61659279 |
| 84 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.61641260 |
| 85 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.61317218 |
| 86 | Salmonella infection_Homo sapiens_hsa05132 | 0.61008493 |
| 87 | Chemokine signaling pathway_Homo sapiens_hsa04062 | 0.60859081 |
| 88 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.60811797 |
| 89 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.60804824 |
| 90 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.60461880 |
| 91 | Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750 | 0.58538055 |
| 92 | African trypanosomiasis_Homo sapiens_hsa05143 | 0.57809173 |
| 93 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.57230330 |
| 94 | Phagosome_Homo sapiens_hsa04145 | 0.57089557 |
| 95 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.56726002 |
| 96 | Ras signaling pathway_Homo sapiens_hsa04014 | 0.55888637 |
| 97 | TNF signaling pathway_Homo sapiens_hsa04668 | 0.55833776 |
| 98 | Prion diseases_Homo sapiens_hsa05020 | 0.55614880 |
| 99 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.52895160 |
| 100 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.52729977 |
| 101 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.52688366 |
| 102 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.50885787 |
| 103 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.50643455 |
| 104 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.47182941 |
| 105 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.44421499 |
| 106 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.44252188 |
| 107 | Malaria_Homo sapiens_hsa05144 | 0.43464592 |
| 108 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.42536583 |
| 109 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.41789123 |
| 110 | Cell cycle_Homo sapiens_hsa04110 | 0.41542906 |
| 111 | FoxO signaling pathway_Homo sapiens_hsa04068 | 0.39874417 |
| 112 | Endocytosis_Homo sapiens_hsa04144 | 0.39469631 |
| 113 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.38855831 |
| 114 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.38627780 |
| 115 | Cocaine addiction_Homo sapiens_hsa05030 | 0.37682038 |
| 116 | Hepatitis B_Homo sapiens_hsa05161 | 0.37375295 |
| 117 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.35849981 |
| 118 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.35693683 |
| 119 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.35666649 |
| 120 | Apoptosis_Homo sapiens_hsa04210 | 0.34319136 |
| 121 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.33853011 |
| 122 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.33093274 |
| 123 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.32739725 |
| 124 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.31754295 |
| 125 | Renin secretion_Homo sapiens_hsa04924 | 0.31591240 |
| 126 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.29663022 |
| 127 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.26366309 |
| 128 | Ribosome_Homo sapiens_hsa03010 | 0.25966413 |
| 129 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.25845792 |
| 130 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.24587780 |

