

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | hemidesmosome assembly (GO:0031581) | 6.37957927 |
| 2 | bone trabecula formation (GO:0060346) | 5.70293059 |
| 3 | mesenchymal-epithelial cell signaling (GO:0060638) | 5.61511676 |
| 4 | chondrocyte proliferation (GO:0035988) | 5.58278882 |
| 5 | cell proliferation involved in metanephros development (GO:0072203) | 5.20011918 |
| 6 | metanephric mesenchyme development (GO:0072075) | 5.16127116 |
| 7 | sequestering of extracellular ligand from receptor (GO:0035581) | 5.07757210 |
| 8 | regulation of plasminogen activation (GO:0010755) | 5.01699764 |
| 9 | kidney mesenchyme development (GO:0072074) | 4.99713599 |
| 10 | collagen fibril organization (GO:0030199) | 4.97169747 |
| 11 | cell proliferation involved in kidney development (GO:0072111) | 4.91930427 |
| 12 | lateral sprouting from an epithelium (GO:0060601) | 4.90844622 |
| 13 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 4.80038893 |
| 14 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 4.80038893 |
| 15 | craniofacial suture morphogenesis (GO:0097094) | 4.59122537 |
| 16 | skin morphogenesis (GO:0043589) | 4.54689839 |
| 17 | regulation of branching involved in prostate gland morphogenesis (GO:0060687) | 4.52206436 |
| 18 | mesenchymal cell proliferation (GO:0010463) | 4.42995700 |
| 19 | * cell migration involved in heart development (GO:0060973) | 4.28242357 |
| 20 | planar cell polarity pathway involved in neural tube closure (GO:0090179) | 4.26319794 |
| 21 | regulation of non-canonical Wnt signaling pathway (GO:2000050) | 4.14795835 |
| 22 | regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095) | 4.14714690 |
| 23 | extracellular regulation of signal transduction (GO:1900115) | 4.08713595 |
| 24 | extracellular negative regulation of signal transduction (GO:1900116) | 4.08713595 |
| 25 | regulation of establishment of planar polarity involved in neural tube closure (GO:0090178) | 4.07808229 |
| 26 | embryonic cranial skeleton morphogenesis (GO:0048701) | 4.07581905 |
| 27 | middle ear morphogenesis (GO:0042474) | 4.03663863 |
| 28 | protein heterotrimerization (GO:0070208) | 4.02385799 |
| 29 | cell adhesion mediated by integrin (GO:0033627) | 3.98863170 |
| 30 | chondrocyte development (GO:0002063) | 3.96590324 |
| 31 | outer ear morphogenesis (GO:0042473) | 3.96335537 |
| 32 | cranial suture morphogenesis (GO:0060363) | 3.95974213 |
| 33 | embryonic skeletal joint morphogenesis (GO:0060272) | 3.91904370 |
| 34 | G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199 | 3.90827675 |
| 35 | prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:006052 | 3.87533765 |
| 36 | cell-substrate junction assembly (GO:0007044) | 3.86672070 |
| 37 | basement membrane organization (GO:0071711) | 3.85877459 |
| 38 | regulation of vascular endothelial growth factor signaling pathway (GO:1900746) | 3.79091278 |
| 39 | mesenchymal cell differentiation (GO:0048762) | 3.74793705 |
| 40 | neuron projection extension involved in neuron projection guidance (GO:1902284) | 3.74598063 |
| 41 | axon extension involved in axon guidance (GO:0048846) | 3.74598063 |
| 42 | melanin biosynthetic process (GO:0042438) | 3.70745488 |
| 43 | dermatan sulfate biosynthetic process (GO:0030208) | 3.62659283 |
| 44 | extracellular matrix assembly (GO:0085029) | 3.57444039 |
| 45 | smooth muscle tissue development (GO:0048745) | 3.51059560 |
| 46 | radial glial cell differentiation (GO:0060019) | 3.50381194 |
| 47 | * negative regulation of chondrocyte differentiation (GO:0032331) | 3.40820318 |
| 48 | embryonic forelimb morphogenesis (GO:0035115) | 3.37017827 |
| 49 | peptidyl-proline hydroxylation (GO:0019511) | 3.36487635 |
| 50 | dermatan sulfate metabolic process (GO:0030205) | 3.35255941 |
| 51 | extracellular fibril organization (GO:0043206) | 3.33196942 |
| 52 | COPII vesicle coating (GO:0048208) | 3.32457898 |
| 53 | vascular endothelial growth factor signaling pathway (GO:0038084) | 3.27234146 |
| 54 | negative regulation of embryonic development (GO:0045992) | 3.25692545 |
| 55 | regulation of transforming growth factor beta2 production (GO:0032909) | 3.25447129 |
| 56 | branching involved in prostate gland morphogenesis (GO:0060442) | 3.23579209 |
| 57 | * regulation of branching involved in salivary gland morphogenesis (GO:0060693) | 3.22946393 |
| 58 | mesonephros development (GO:0001823) | 3.22423190 |
| 59 | ureteric bud development (GO:0001657) | 3.21438953 |
| 60 | establishment of tissue polarity (GO:0007164) | 3.19991858 |
| 61 | establishment of planar polarity (GO:0001736) | 3.19991858 |
| 62 | extracellular matrix disassembly (GO:0022617) | 3.19693555 |
| 63 | positive regulation of mesenchymal cell proliferation (GO:0002053) | 3.17713618 |
| 64 | regulation of integrin-mediated signaling pathway (GO:2001044) | 3.17408566 |
| 65 | multicellular organismal macromolecule metabolic process (GO:0044259) | 3.16687883 |
| 66 | mesonephric tubule development (GO:0072164) | 3.16324225 |
| 67 | endothelial cell morphogenesis (GO:0001886) | 3.15606233 |
| 68 | type B pancreatic cell proliferation (GO:0044342) | 3.15213965 |
| 69 | atrioventricular valve morphogenesis (GO:0003181) | 3.14769864 |
| 70 | melanin metabolic process (GO:0006582) | 3.14495309 |
| 71 | endodermal cell differentiation (GO:0035987) | 3.14439887 |
| 72 | protein retention in ER lumen (GO:0006621) | 3.14308650 |
| 73 | paraxial mesoderm development (GO:0048339) | 3.14136961 |
| 74 | fibril organization (GO:0097435) | 3.12977721 |
| 75 | substrate-dependent cell migration (GO:0006929) | 3.12759540 |
| 76 | positive regulation of cartilage development (GO:0061036) | 3.11993877 |
| 77 | * desmosome organization (GO:0002934) | 3.11794153 |
| 78 | regulation of mesenchymal cell proliferation (GO:0010464) | 3.11346894 |
| 79 | maintenance of protein localization in endoplasmic reticulum (GO:0035437) | 3.11302497 |
| 80 | positive regulation of smoothened signaling pathway (GO:0045880) | 3.11244757 |
| 81 | negative regulation of axon extension involved in axon guidance (GO:0048843) | 3.10955590 |
| 82 | regulation of metalloenzyme activity (GO:0048552) | 3.09822074 |
| 83 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.07944456 |
| 84 | mesenchyme morphogenesis (GO:0072132) | 3.06869546 |
| 85 | mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337) | 3.06712000 |
| 86 | secondary metabolite biosynthetic process (GO:0044550) | 3.06666311 |
| 87 | protein hydroxylation (GO:0018126) | 3.06232524 |
| 88 | mesodermal cell differentiation (GO:0048333) | 3.06106269 |
| 89 | head development (GO:0060322) | 3.05425206 |
| 90 | mesonephric epithelium development (GO:0072163) | 3.04812957 |
| 91 | multicellular organismal metabolic process (GO:0044236) | 3.04515723 |
| 92 | cell migration involved in sprouting angiogenesis (GO:0002042) | 3.02547033 |
| 93 | cellular response to vitamin D (GO:0071305) | 3.02310832 |
| 94 | convergent extension (GO:0060026) | 3.01187389 |
| 95 | cell differentiation involved in metanephros development (GO:0072202) | 3.00372791 |
| 96 | embryonic skeletal system morphogenesis (GO:0048704) | 2.98233336 |
| 97 | forelimb morphogenesis (GO:0035136) | 2.96082590 |
| 98 | multicellular organismal catabolic process (GO:0044243) | 2.95553781 |
| 99 | Wnt signaling pathway, planar cell polarity pathway (GO:0060071) | 2.94730471 |
| 100 | negative chemotaxis (GO:0050919) | 2.93677098 |
| 101 | mesenchyme development (GO:0060485) | 2.93201650 |
| 102 | wound healing, spreading of epidermal cells (GO:0035313) | 2.93027798 |
| 103 | positive regulation of epithelial to mesenchymal transition (GO:0010718) | 2.91701060 |
| 104 | dichotomous subdivision of an epithelial terminal unit (GO:0060600) | 2.90929567 |
| 105 | endocardial cushion development (GO:0003197) | 2.90913003 |
| 106 | collagen metabolic process (GO:0032963) | 2.90768418 |
| 107 | regulation of establishment of planar polarity (GO:0090175) | 2.89183836 |
| 108 | lymphangiogenesis (GO:0001946) | 2.88807205 |
| 109 | regulation of heart morphogenesis (GO:2000826) | 2.88400799 |
| 110 | regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547) | 2.88021869 |
| 111 | * palate development (GO:0060021) | 2.87937854 |
| 112 | positive regulation of blood vessel endothelial cell migration (GO:0043536) | 2.87596238 |
| 113 | wound healing, spreading of cells (GO:0044319) | 2.87283309 |
| 114 | cochlea morphogenesis (GO:0090103) | 2.87030542 |
| 115 | embryonic appendage morphogenesis (GO:0035113) | 2.86908614 |
| 116 | embryonic limb morphogenesis (GO:0030326) | 2.86908614 |
| 117 | collagen catabolic process (GO:0030574) | 2.86879823 |
| 118 | regulation of gonadotropin secretion (GO:0032276) | 2.85858057 |
| 119 | cell differentiation involved in kidney development (GO:0061005) | 2.85767435 |
| 120 | cellular response to vitamin (GO:0071295) | 2.84283829 |
| 121 | muscle cell migration (GO:0014812) | 2.83824469 |
| 122 | anterior/posterior axis specification, embryo (GO:0008595) | 2.83072852 |
| 123 | extracellular matrix organization (GO:0030198) | 2.82637594 |
| 124 | * epithelial to mesenchymal transition (GO:0001837) | 2.82505163 |
| 125 | * regulation of keratinocyte proliferation (GO:0010837) | 2.82273951 |
| 126 | extracellular structure organization (GO:0043062) | 2.81440194 |
| 127 | * neural crest cell development (GO:0014032) | 2.81249375 |
| 128 | cell surface receptor signaling pathway involved in heart development (GO:0061311) | 2.81136296 |
| 129 | heparan sulfate proteoglycan biosynthetic process (GO:0015012) | 2.77246557 |
| 130 | * regulation of cartilage development (GO:0061035) | 2.77151078 |
| 131 | negative regulation of axon guidance (GO:1902668) | 2.76946154 |
| 132 | pathway-restricted SMAD protein phosphorylation (GO:0060389) | 2.76767124 |
| 133 | * regulation of chondrocyte differentiation (GO:0032330) | 2.76704683 |
| 134 | negative regulation of BMP signaling pathway (GO:0030514) | 2.76392501 |
| 135 | protein localization to endosome (GO:0036010) | 2.76280014 |
| 136 | pattern specification involved in kidney development (GO:0061004) | 2.76181252 |
| 137 | response to BMP (GO:0071772) | 2.75563655 |
| 138 | cellular response to BMP stimulus (GO:0071773) | 2.75563655 |
| 139 | organ induction (GO:0001759) | 2.74979629 |
| 140 | regulation of organ formation (GO:0003156) | 2.74838861 |
| 141 | notochord development (GO:0030903) | 2.74365059 |
| 142 | prostate gland epithelium morphogenesis (GO:0060740) | 2.72118105 |
| 143 | branching involved in ureteric bud morphogenesis (GO:0001658) | 2.72039863 |
| 144 | keratinocyte proliferation (GO:0043616) | 2.71836695 |
| 145 | positive regulation of odontogenesis (GO:0042482) | 2.71681260 |
| 146 | negative regulation of fatty acid transport (GO:2000192) | 2.71371599 |
| 147 | regulation of axon extension involved in axon guidance (GO:0048841) | 2.70675302 |
| 148 | skeletal system morphogenesis (GO:0048705) | 2.70129556 |
| 149 | limb bud formation (GO:0060174) | 2.70014285 |
| 150 | negative regulation of smooth muscle cell migration (GO:0014912) | 2.65059409 |
| 151 | face morphogenesis (GO:0060325) | 2.63051757 |
| 152 | wound healing (GO:0042060) | 2.59848272 |
| 153 | substrate adhesion-dependent cell spreading (GO:0034446) | 2.59407272 |
| 154 | pericardium development (GO:0060039) | 2.59315774 |
| 155 | barbed-end actin filament capping (GO:0051016) | 2.58745241 |
| 156 | midgut development (GO:0007494) | 2.58647514 |
| 157 | negative regulation of endothelial cell proliferation (GO:0001937) | 2.58517382 |
| 158 | negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394) | 2.56088280 |
| 159 | positive regulation of endothelial cell migration (GO:0010595) | 2.54215229 |
| 160 | venous blood vessel morphogenesis (GO:0048845) | 2.53524574 |
| 161 | vascular endothelial growth factor receptor signaling pathway (GO:0048010) | 2.52853998 |
| 162 | positive regulation of osteoblast proliferation (GO:0033690) | 2.51878605 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 4.13860814 |
| 2 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 4.06748596 |
| 3 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 3.65453468 |
| 4 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 3.52917855 |
| 5 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 3.19342872 |
| 6 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 3.17570838 |
| 7 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 3.11427860 |
| 8 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 3.03878987 |
| 9 | CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse | 2.90006909 |
| 10 | WT1_19549856_ChIP-ChIP_CCG9911_Human | 2.74531227 |
| 11 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 2.73988872 |
| 12 | PHC1_16625203_ChIP-ChIP_MESCs_Mouse | 2.55859099 |
| 13 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 2.55331515 |
| 14 | ESR1_22446102_ChIP-Seq_UTERUS_Mouse | 2.35523968 |
| 15 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 2.35452337 |
| 16 | SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 2.30913849 |
| 17 | SMAD_19615063_ChIP-ChIP_OVARY_Human | 2.29716270 |
| 18 | CJUN_26792858_Chip-Seq_BT549_Human | 2.28824222 |
| 19 | TP53_18474530_ChIP-ChIP_U2OS_Human | 2.21787177 |
| 20 | * RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 2.21639807 |
| 21 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.17162575 |
| 22 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 2.12681726 |
| 23 | EZH2_18974828_ChIP-Seq_MESCs_Mouse | 2.10697723 |
| 24 | RNF2_18974828_ChIP-Seq_MESCs_Mouse | 2.10697723 |
| 25 | CLOCK_20551151_ChIP-Seq_293T_Human | 2.07088171 |
| 26 | SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 2.01259668 |
| 27 | * SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 2.00126283 |
| 28 | NRF2_20460467_ChIP-Seq_MEFs_Mouse | 1.96307285 |
| 29 | NFE2L2_20460467_ChIP-Seq_MEFs_Mouse | 1.96307285 |
| 30 | * NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 1.94371794 |
| 31 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.91313465 |
| 32 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.91027431 |
| 33 | TP53_20018659_ChIP-ChIP_R1E_Mouse | 1.88710551 |
| 34 | BRD4_25478319_ChIP-Seq_HGPS_Human | 1.88459424 |
| 35 | UBF1/2_26484160_Chip-Seq_HMECs_Human | 1.86364737 |
| 36 | * SUZ12_18692474_ChIP-Seq_MEFs_Mouse | 1.85276645 |
| 37 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 1.83753698 |
| 38 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 1.83129756 |
| 39 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.80945070 |
| 40 | * AR_21909140_ChIP-Seq_LNCAP_Human | 1.80108557 |
| 41 | PPAR_26484153_Chip-Seq_NCI-H1993_Human | 1.75753493 |
| 42 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.74886962 |
| 43 | * BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.71261915 |
| 44 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 1.71215902 |
| 45 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 1.69263831 |
| 46 | * ATF3_23680149_ChIP-Seq_GBM1-GSC_Human | 1.68891253 |
| 47 | * ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.67738606 |
| 48 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 1.67684233 |
| 49 | EP300_21415370_ChIP-Seq_HL-1_Mouse | 1.66807786 |
| 50 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.65739720 |
| 51 | * CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 1.64703867 |
| 52 | FUS_26573619_Chip-Seq_HEK293_Human | 1.64435462 |
| 53 | HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse | 1.63778708 |
| 54 | TP53_16413492_ChIP-PET_HCT116_Human | 1.60025490 |
| 55 | P300_27058665_Chip-Seq_ZR-75-30cells_Human | 1.56397951 |
| 56 | * SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 1.55996006 |
| 57 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 1.54115452 |
| 58 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.53171707 |
| 59 | ELK3_25401928_ChIP-Seq_HUVEC_Human | 1.52233612 |
| 60 | KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.50741386 |
| 61 | EWS_26573619_Chip-Seq_HEK293_Human | 1.50333578 |
| 62 | RNF2_27304074_Chip-Seq_ESCs_Mouse | 1.49322924 |
| 63 | EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse | 1.49220197 |
| 64 | * GATA2_21666600_ChIP-Seq_HMVEC_Human | 1.48647416 |
| 65 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.48285261 |
| 66 | P63_26484246_Chip-Seq_KERATINOCYTES_Human | 1.47792764 |
| 67 | * RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 1.47643672 |
| 68 | TRIM28_17542650_ChIP-ChIP_NTERA2_Human | 1.46501062 |
| 69 | * JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.46237420 |
| 70 | * TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.45826535 |
| 71 | P300_19829295_ChIP-Seq_ESCs_Human | 1.44863242 |
| 72 | TP53_22127205_ChIP-Seq_IMR90_Human | 1.40631180 |
| 73 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.40285476 |
| 74 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 1.39875531 |
| 75 | FOXP3_17237761_ChIP-ChIP_TREG_Mouse | 1.39760110 |
| 76 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 1.37429778 |
| 77 | SMC1_22415368_ChIP-Seq_MEFs_Mouse | 1.33394175 |
| 78 | WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 1.33112325 |
| 79 | MEF2A_21415370_ChIP-Seq_HL-1_Mouse | 1.32314980 |
| 80 | SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 1.31071385 |
| 81 | SALL4_18804426_ChIP-ChIP_XEN_Mouse | 1.26117202 |
| 82 | UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 1.24884344 |
| 83 | SOX9_24532713_ChIP-Seq_HFSC_Mouse | 1.23618506 |
| 84 | ISL1_27105846_Chip-Seq_CPCs_Mouse | 1.22959984 |
| 85 | * SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 1.21626381 |
| 86 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 1.20209679 |
| 87 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.19828354 |
| 88 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.19788369 |
| 89 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.19144868 |
| 90 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 1.18559488 |
| 91 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.17531305 |
| 92 | * SMAD3_18955504_ChIP-ChIP_HaCaT_Human | 1.16374876 |
| 93 | * SMAD2_18955504_ChIP-ChIP_HaCaT_Human | 1.16374876 |
| 94 | * TP63_23658742_ChIP-Seq_EP156T_Human | 1.15700608 |
| 95 | MTF2_20144788_ChIP-Seq_MESCs_Mouse | 1.14229938 |
| 96 | EOMES_20176728_ChIP-ChIP_TSCs_Mouse | 1.12454139 |
| 97 | RXR_22108803_ChIP-Seq_LS180_Human | 1.11850624 |
| 98 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.11397045 |
| 99 | * NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.11052384 |
| 100 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.11049011 |
| 101 | TBX20_22328084_ChIP-Seq_HEART_Mouse | 1.09910687 |
| 102 | TBX20_22080862_ChIP-Seq_HEART_Mouse | 1.09910687 |
| 103 | OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.09447124 |
| 104 | NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 1.08519974 |
| 105 | * SMC3_22415368_ChIP-Seq_MEFs_Mouse | 1.08360468 |
| 106 | * SA1_22415368_ChIP-Seq_MEFs_Mouse | 1.06884015 |
| 107 | CTNNB1_20460455_ChIP-Seq_HCT116_Human | 1.04993707 |
| 108 | RING1B_27294783_Chip-Seq_NPCs_Mouse | 1.04825435 |
| 109 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.04526540 |
| 110 | * ATF3_27146783_Chip-Seq_COLON_Human | 1.04200876 |
| 111 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.02396114 |
| 112 | KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.00556560 |
| 113 | FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human | 0.99903691 |
| 114 | SOX9_26525672_Chip-Seq_Limbbuds_Mouse | 0.99131517 |
| 115 | RNF2_27304074_Chip-Seq_NSC_Mouse | 0.98738182 |
| 116 | TP53_23651856_ChIP-Seq_MEFs_Mouse | 0.98139844 |
| 117 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 0.97691400 |
| 118 | AHR_22903824_ChIP-Seq_MCF-7_Human | 0.97667441 |
| 119 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 0.97655743 |
| 120 | NKX2-5_21415370_ChIP-Seq_HL-1_Mouse | 0.97332628 |
| 121 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 0.97205863 |
| 122 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 0.97163637 |
| 123 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 0.97015447 |
| 124 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 0.96886671 |
| 125 | FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 0.95989848 |
| 126 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 0.95924151 |
| 127 | * SOX2_20726797_ChIP-Seq_SW620_Human | 0.95588056 |
| 128 | BCAT_22108803_ChIP-Seq_LS180_Human | 0.95136111 |
| 129 | TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 0.94915864 |
| 130 | NFI_21473784_ChIP-Seq_ESCs_Mouse | 0.94703523 |
| 131 | FOXM1_26456572_ChIP-Seq_MCF-7_Human | 0.93939521 |
| 132 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 0.93509167 |
| 133 | PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 0.93447079 |
| 134 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 0.93087714 |
| 135 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 0.93012745 |
| 136 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 0.92490484 |
| 137 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 0.92232739 |
| 138 | * JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 0.91096576 |
| 139 | KLF5_18264089_ChIP-ChIP_MESCs_Mouse | 0.89495354 |
| 140 | KLF4_18264089_ChIP-ChIP_MESCs_Mouse | 0.89495354 |
| 141 | KLF2_18264089_ChIP-ChIP_MESCs_Mouse | 0.89495354 |
| 142 | TCF3_18467660_ChIP-ChIP_MESCs_Mouse | 0.88575988 |
| 143 | PPARG_20887899_ChIP-Seq_3T3-L1_Mouse | 0.86977827 |
| 144 | PPARD_21283829_ChIP-Seq_MYOFIBROBLAST_Human | 0.85614714 |
| 145 | ZNF263_19887448_ChIP-Seq_K562_Human | 0.85482087 |
| 146 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 0.85124037 |
| 147 | ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.83849635 |
| 148 | FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.83599505 |
| 149 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 0.83433818 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005503_abnormal_tendon_morphology | 5.34607420 |
| 2 | MP0008438_abnormal_cutaneous_collagen | 5.19263718 |
| 3 | MP0005275_abnormal_skin_tensile | 3.49980163 |
| 4 | MP0010030_abnormal_orbit_morphology | 3.36905938 |
| 5 | MP0009250_abnormal_appendicular_skeleto | 3.23674838 |
| 6 | MP0003279_aneurysm | 3.19168774 |
| 7 | MP0000566_synostosis | 2.95838112 |
| 8 | MP0003385_abnormal_body_wall | 2.74319055 |
| 9 | MP0009384_cardiac_valve_regurgitation | 2.68498701 |
| 10 | MP0003705_abnormal_hypodermis_morpholog | 2.51413777 |
| 11 | MP0004272_abnormal_basement_membrane | 2.48244741 |
| 12 | MP0005508_abnormal_skeleton_morphology | 2.46163627 |
| 13 | MP0002249_abnormal_larynx_morphology | 2.38499221 |
| 14 | MP0005257_abnormal_intraocular_pressure | 2.28326673 |
| 15 | MP0000049_abnormal_middle_ear | 2.22963997 |
| 16 | MP0003950_abnormal_plasma_membrane | 2.22874933 |
| 17 | MP0003942_abnormal_urinary_system | 2.22023985 |
| 18 | MP0000762_abnormal_tongue_morphology | 2.13453143 |
| 19 | MP0002282_abnormal_trachea_morphology | 2.09969969 |
| 20 | MP0009053_abnormal_anal_canal | 2.07416137 |
| 21 | MP0003122_maternal_imprinting | 2.00847480 |
| 22 | MP0001958_emphysema | 1.97986640 |
| 23 | MP0000013_abnormal_adipose_tissue | 1.88661736 |
| 24 | MP0003937_abnormal_limbs/digits/tail_de | 1.88484981 |
| 25 | * MP0003755_abnormal_palate_morphology | 1.87101168 |
| 26 | MP0001299_abnormal_eye_distance/ | 1.86590477 |
| 27 | MP0002877_abnormal_melanocyte_morpholog | 1.82834423 |
| 28 | MP0001346_abnormal_lacrimal_gland | 1.82153931 |
| 29 | MP0000163_abnormal_cartilage_morphology | 1.77050403 |
| 30 | MP0003941_abnormal_skin_development | 1.76209130 |
| 31 | MP0002108_abnormal_muscle_morphology | 1.74122865 |
| 32 | MP0010368_abnormal_lymphatic_system | 1.71994151 |
| 33 | MP0004134_abnormal_chest_morphology | 1.70785754 |
| 34 | MP0000534_abnormal_ureter_morphology | 1.70189805 |
| 35 | * MP0002938_white_spotting | 1.68167240 |
| 36 | MP0002932_abnormal_joint_morphology | 1.63346643 |
| 37 | MP0002233_abnormal_nose_morphology | 1.61079404 |
| 38 | MP0002115_abnormal_skeleton_extremities | 1.57212234 |
| 39 | MP0005171_absent_coat_pigmentation | 1.55199905 |
| 40 | MP0002060_abnormal_skin_morphology | 1.54255190 |
| 41 | MP0002109_abnormal_limb_morphology | 1.53347826 |
| 42 | MP0000428_abnormal_craniofacial_morphol | 1.51004342 |
| 43 | MP0000372_irregular_coat_pigmentation | 1.50941514 |
| 44 | MP0005408_hypopigmentation | 1.50112202 |
| 45 | MP0002896_abnormal_bone_mineralization | 1.49467645 |
| 46 | MP0006054_spinal_hemorrhage | 1.49250041 |
| 47 | MP0000516_abnormal_urinary_system | 1.49117417 |
| 48 | MP0005367_renal/urinary_system_phenotyp | 1.49117417 |
| 49 | MP0002116_abnormal_craniofacial_bone | 1.42767510 |
| 50 | MP0002295_abnormal_pulmonary_circulatio | 1.41674651 |
| 51 | * MP0003935_abnormal_craniofacial_develop | 1.39562275 |
| 52 | MP0000767_abnormal_smooth_muscle | 1.38211034 |
| 53 | MP0002113_abnormal_skeleton_development | 1.38065965 |
| 54 | MP0002177_abnormal_outer_ear | 1.37389729 |
| 55 | MP0000537_abnormal_urethra_morphology | 1.35711240 |
| 56 | MP0005360_urolithiasis | 1.34664027 |
| 57 | MP0001270_distended_abdomen | 1.31830640 |
| 58 | MP0000432_abnormal_head_morphology | 1.30139901 |
| 59 | MP0005390_skeleton_phenotype | 1.29192680 |
| 60 | MP0005409_darkened_coat_color | 1.27843595 |
| 61 | MP0001879_abnormal_lymphatic_vessel | 1.27199676 |
| 62 | MP0000678_abnormal_parathyroid_gland | 1.27129920 |
| 63 | MP0009780_abnormal_chondrocyte_physiolo | 1.26194204 |
| 64 | MP0001542_abnormal_bone_strength | 1.25364597 |
| 65 | MP0000751_myopathy | 1.23872199 |
| 66 | MP0001849_ear_inflammation | 1.23279453 |
| 67 | MP0000003_abnormal_adipose_tissue | 1.22666293 |
| 68 | MP0005023_abnormal_wound_healing | 1.20316615 |
| 69 | MP0005623_abnormal_meninges_morphology | 1.20284557 |
| 70 | MP0000733_abnormal_muscle_development | 1.16149731 |
| 71 | MP0003121_genomic_imprinting | 1.15017076 |
| 72 | MP0005248_abnormal_Harderian_gland | 1.14641599 |
| 73 | MP0000467_abnormal_esophagus_morphology | 1.14473377 |
| 74 | MP0009697_abnormal_copulation | 1.13127892 |
| 75 | MP0003115_abnormal_respiratory_system | 1.10356291 |
| 76 | MP0001243_abnormal_dermal_layer | 1.10237664 |
| 77 | MP0000579_abnormal_nail_morphology | 1.08592962 |
| 78 | MP0000569_abnormal_digit_pigmentation | 1.04592099 |
| 79 | MP0005164_abnormal_response_to | 1.03327264 |
| 80 | MP0001661_extended_life_span | 1.03220138 |
| 81 | MP0003566_abnormal_cell_adhesion | 1.02455331 |
| 82 | MP0002111_abnormal_tail_morphology | 1.01546461 |
| 83 | MP0002098_abnormal_vibrissa_morphology | 0.99543154 |
| 84 | MP0002933_joint_inflammation | 0.98689562 |
| 85 | MP0005670_abnormal_white_adipose | 0.97875578 |
| 86 | MP0001293_anophthalmia | 0.96008354 |
| 87 | MP0010352_gastrointestinal_tract_polyps | 0.95268408 |
| 88 | MP0002114_abnormal_axial_skeleton | 0.94654577 |
| 89 | MP0000015_abnormal_ear_pigmentation | 0.93552173 |
| 90 | MP0000749_muscle_degeneration | 0.92531776 |
| 91 | MP0000613_abnormal_salivary_gland | 0.92031306 |
| 92 | MP0003136_yellow_coat_color | 0.91569537 |
| 93 | MP0000383_abnormal_hair_follicle | 0.91433244 |
| 94 | MP0002234_abnormal_pharynx_morphology | 0.90871252 |
| 95 | MP0003938_abnormal_ear_development | 0.90009677 |
| 96 | MP0005595_abnormal_vascular_smooth | 0.88810324 |
| 97 | MP0003091_abnormal_cell_migration | 0.88723371 |
| 98 | MP0002998_abnormal_bone_remodeling | 0.85626143 |
| 99 | MP0002277_abnormal_respiratory_mucosa | 0.83873666 |
| 100 | MP0001177_atelectasis | 0.83794012 |
| 101 | MP0008789_abnormal_olfactory_epithelium | 0.82887647 |
| 102 | MP0001216_abnormal_epidermal_layer | 0.81763385 |
| 103 | MP0001175_abnormal_lung_morphology | 0.81191365 |
| 104 | MP0010771_integument_phenotype | 0.80384548 |
| 105 | * MP0001340_abnormal_eyelid_morphology | 0.78888530 |
| 106 | MP0003795_abnormal_bone_structure | 0.78133948 |
| 107 | MP0000427_abnormal_hair_cycle | 0.77615141 |
| 108 | MP0002168_other_aberrant_phenotype | 0.77373737 |
| 109 | MP0000647_abnormal_sebaceous_gland | 0.76947897 |
| 110 | MP0002102_abnormal_ear_morphology | 0.76080711 |
| 111 | MP0000759_abnormal_skeletal_muscle | 0.75809724 |
| 112 | * MP0005193_abnormal_anterior_eye | 0.75354199 |
| 113 | MP0000750_abnormal_muscle_regeneration | 0.75166509 |
| 114 | MP0002796_impaired_skin_barrier | 0.70856465 |
| 115 | MP0004381_abnormal_hair_follicle | 0.70816386 |
| 116 | MP0003453_abnormal_keratinocyte_physiol | 0.69008416 |
| 117 | MP0005197_abnormal_uvea_morphology | 0.68294610 |
| 118 | MP0002133_abnormal_respiratory_system | 0.67006053 |
| 119 | MP0005388_respiratory_system_phenotype | 0.67006053 |
| 120 | MP0004858_abnormal_nervous_system | 0.66301991 |
| 121 | MP0002128_abnormal_blood_circulation | 0.65027454 |
| 122 | MP0000681_abnormal_thyroid_gland | 0.64988733 |
| 123 | MP0002697_abnormal_eye_size | 0.64876781 |
| 124 | MP0001286_abnormal_eye_development | 0.64861452 |
| 125 | MP0001614_abnormal_blood_vessel | 0.61068698 |
| 126 | MP0002925_abnormal_cardiovascular_devel | 0.60136671 |
| 127 | MP0002132_abnormal_respiratory_system | 0.59405855 |
| 128 | MP0002163_abnormal_gland_morphology | 0.59397369 |
| 129 | MP0005187_abnormal_penis_morphology | 0.59155341 |
| 130 | MP0000538_abnormal_urinary_bladder | 0.59035134 |
| 131 | MP0000462_abnormal_digestive_system | 0.58292726 |
| 132 | MP0005501_abnormal_skin_physiology | 0.57262162 |
| 133 | MP0004883_abnormal_blood_vessel | 0.56123677 |
| 134 | MP0003283_abnormal_digestive_organ | 0.55542052 |
| 135 | MP0002089_abnormal_postnatal_growth/wei | 0.54437332 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Protrusio acetabuli (HP:0003179) | 6.07461411 |
| 2 | Premature rupture of membranes (HP:0001788) | 5.07306888 |
| 3 | Short 4th metacarpal (HP:0010044) | 3.74049866 |
| 4 | Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042) | 3.74049866 |
| 5 | Follicular hyperkeratosis (HP:0007502) | 3.71797196 |
| 6 | Shallow orbits (HP:0000586) | 3.68710202 |
| 7 | Atrophic scars (HP:0001075) | 3.55168004 |
| 8 | Aortic aneurysm (HP:0004942) | 3.50223945 |
| 9 | Soft skin (HP:0000977) | 3.48145677 |
| 10 | Aortic dissection (HP:0002647) | 3.46675056 |
| 11 | Broad metatarsal (HP:0001783) | 3.44161908 |
| 12 | Abnormality of the parietal bone (HP:0002696) | 3.41086431 |
| 13 | Mesomelia (HP:0003027) | 3.37341083 |
| 14 | Bell-shaped thorax (HP:0001591) | 3.31949620 |
| 15 | Vertebral compression fractures (HP:0002953) | 3.19299070 |
| 16 | Neonatal short-limb short stature (HP:0008921) | 3.18142048 |
| 17 | Abnormality of dentin (HP:0010299) | 3.13092947 |
| 18 | Spinal cord lesions (HP:0100561) | 3.09676929 |
| 19 | Syringomyelia (HP:0003396) | 3.09676929 |
| 20 | Microglossia (HP:0000171) | 3.06522893 |
| 21 | Spondylolisthesis (HP:0003302) | 2.91297045 |
| 22 | Mitral valve prolapse (HP:0001634) | 2.84236584 |
| 23 | Hypoplasia of the iris (HP:0007676) | 2.83234972 |
| 24 | Alopecia of scalp (HP:0002293) | 2.80989221 |
| 25 | Wormian bones (HP:0002645) | 2.77768678 |
| 26 | Abnormality of the fetal cardiovascular system (HP:0010948) | 2.76369832 |
| 27 | Abnormal umbilical cord blood vessels (HP:0011403) | 2.76369832 |
| 28 | Single umbilical artery (HP:0001195) | 2.76369832 |
| 29 | Biconcave vertebral bodies (HP:0004586) | 2.76207075 |
| 30 | Peritonitis (HP:0002586) | 2.74479528 |
| 31 | Bladder diverticulum (HP:0000015) | 2.72424614 |
| 32 | Abnormality of the 4th metacarpal (HP:0010012) | 2.71497541 |
| 33 | Ankle contracture (HP:0006466) | 2.70125333 |
| 34 | Vascular tortuosity (HP:0004948) | 2.65628144 |
| 35 | Cervical subluxation (HP:0003308) | 2.65183811 |
| 36 | Short middle phalanx of the 5th finger (HP:0004220) | 2.60364940 |
| 37 | Midline defect of the nose (HP:0004122) | 2.60129398 |
| 38 | Osteolytic defects of the hand bones (HP:0009699) | 2.56763818 |
| 39 | Osteolytic defects of the phalanges of the hand (HP:0009771) | 2.56763818 |
| 40 | Wide anterior fontanel (HP:0000260) | 2.51962888 |
| 41 | Coronal craniosynostosis (HP:0004440) | 2.49713769 |
| 42 | Blue sclerae (HP:0000592) | 2.49537302 |
| 43 | Dilatation of the ascending aorta (HP:0005111) | 2.48942293 |
| 44 | Fragile skin (HP:0001030) | 2.48220078 |
| 45 | Reduced subcutaneous adipose tissue (HP:0003758) | 2.44248720 |
| 46 | Aortic regurgitation (HP:0001659) | 2.44036299 |
| 47 | Spinal rigidity (HP:0003306) | 2.40490724 |
| 48 | Abnormality of incisor morphology (HP:0011063) | 2.39420948 |
| 49 | Abnormality of the umbilical cord (HP:0010881) | 2.39307786 |
| 50 | Nasolacrimal duct obstruction (HP:0000579) | 2.38344539 |
| 51 | Milia (HP:0001056) | 2.34710963 |
| 52 | Onycholysis (HP:0001806) | 2.33176005 |
| 53 | Arterial tortuosity (HP:0005116) | 2.30167118 |
| 54 | Type 1 muscle fiber predominance (HP:0003803) | 2.28986888 |
| 55 | Abnormal delivery (HP:0001787) | 2.28968371 |
| 56 | * White forelock (HP:0002211) | 2.26911775 |
| 57 | Abnormality of the nasolacrimal system (HP:0000614) | 2.22320679 |
| 58 | Broad toe (HP:0001837) | 2.21556355 |
| 59 | Mildly elevated creatine phosphokinase (HP:0008180) | 2.21552703 |
| 60 | Infantile muscular hypotonia (HP:0008947) | 2.20440979 |
| 61 | Abnormality of the phalanges of the 2nd finger (HP:0009541) | 2.19870362 |
| 62 | Morphological abnormality of the middle ear (HP:0008609) | 2.19729909 |
| 63 | Cardiovascular calcification (HP:0011915) | 2.18935066 |
| 64 | Disproportionate tall stature (HP:0001519) | 2.17556975 |
| 65 | Vitreoretinal degeneration (HP:0000655) | 2.14748403 |
| 66 | Ulnar bowing (HP:0003031) | 2.13267346 |
| 67 | Overgrowth (HP:0001548) | 2.13004318 |
| 68 | Hypoplastic ischia (HP:0003175) | 2.12554763 |
| 69 | Decreased skull ossification (HP:0004331) | 2.11607140 |
| 70 | Hepatoblastoma (HP:0002884) | 2.10281971 |
| 71 | Elbow flexion contracture (HP:0002987) | 2.09604088 |
| 72 | Flat capital femoral epiphysis (HP:0003370) | 2.09360314 |
| 73 | Fragile nails (HP:0001808) | 2.06241823 |
| 74 | Abnormality of the distal phalanx of the thumb (HP:0009617) | 2.04403957 |
| 75 | Abnormality of the lacrimal duct (HP:0011481) | 2.04295062 |
| 76 | Increased variability in muscle fiber diameter (HP:0003557) | 2.01347375 |
| 77 | Broad long bones (HP:0005622) | 2.00477425 |
| 78 | Trigonocephaly (HP:0000243) | 1.99946384 |
| 79 | * Patchy hypopigmentation of hair (HP:0011365) | 1.99835133 |
| 80 | Mitral stenosis (HP:0001718) | 1.99468788 |
| 81 | Bowel diverticulosis (HP:0005222) | 1.98567372 |
| 82 | Increased number of teeth (HP:0011069) | 1.98076125 |
| 83 | Cerebral aneurysm (HP:0004944) | 1.97012724 |
| 84 | Delayed cranial suture closure (HP:0000270) | 1.96937940 |
| 85 | Short clavicles (HP:0000894) | 1.96845196 |
| 86 | Abnormal ossification of hand bones (HP:0005921) | 1.96417414 |
| 87 | Abnormality of nail color (HP:0100643) | 1.95879193 |
| 88 | Tracheomalacia (HP:0002779) | 1.95775136 |
| 89 | Abnormality of the 2nd finger (HP:0004100) | 1.95238802 |
| 90 | Aplasia involving bones of the extremities (HP:0009825) | 1.94874641 |
| 91 | Aplasia involving bones of the upper limbs (HP:0009823) | 1.94874641 |
| 92 | Aplasia of the phalanges of the hand (HP:0009802) | 1.94874641 |
| 93 | Hypopigmentation of the fundus (HP:0007894) | 1.94097783 |
| 94 | Asymmetry of the thorax (HP:0001555) | 1.91716029 |
| 95 | Wrist flexion contracture (HP:0001239) | 1.91649406 |
| 96 | Delayed closure of the anterior fontanelle (HP:0001476) | 1.91304094 |
| 97 | Pterygium (HP:0001059) | 1.90359864 |
| 98 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 1.90019381 |
| 99 | Genu recurvatum (HP:0002816) | 1.89955490 |
| 100 | Abnormalities of placenta or umbilical cord (HP:0001194) | 1.89896226 |
| 101 | Abnormal hand bone ossification (HP:0010660) | 1.89773239 |
| 102 | Abnormality of the ischium (HP:0003174) | 1.89596896 |
| 103 | Aneurysm (HP:0002617) | 1.88802911 |
| 104 | Slender build (HP:0001533) | 1.88479490 |
| 105 | Plantar hyperkeratosis (HP:0007556) | 1.88171019 |
| 106 | Joint laxity (HP:0001388) | 1.87709599 |
| 107 | Abnormality of the incisor (HP:0000676) | 1.84714841 |
| 108 | Aplasia cutis congenita (HP:0001057) | 1.84001411 |
| 109 | Abnormality of the nasal septum (HP:0000419) | 1.83895356 |
| 110 | Natal tooth (HP:0000695) | 1.83652082 |
| 111 | Limited elbow extension (HP:0001377) | 1.83268421 |
| 112 | Popliteal pterygium (HP:0009756) | 1.83245113 |
| 113 | Limited hip movement (HP:0008800) | 1.82586852 |
| 114 | Abnormality of skull ossification (HP:0002703) | 1.82582546 |
| 115 | Broad hallux (HP:0010055) | 1.82370177 |
| 116 | Deviation of the hallux (HP:0010051) | 1.82367695 |
| 117 | Absent frontal sinuses (HP:0002688) | 1.81458705 |
| 118 | Abnormality of carpal bone ossification (HP:0006257) | 1.80399975 |
| 119 | Abnormality of the middle phalanges of the hand (HP:0009833) | 1.80284079 |
| 120 | Abnormality of the acetabulum (HP:0003170) | 1.80210792 |
| 121 | Short middle phalanx of finger (HP:0005819) | 1.80170790 |
| 122 | Knee flexion contracture (HP:0006380) | 1.79988939 |
| 123 | Short nail (HP:0001799) | 1.79932460 |
| 124 | Hyperextensible skin (HP:0000974) | 1.79821538 |
| 125 | Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376) | 1.79428183 |
| 126 | Abnormality of the phalanges of the hallux (HP:0010057) | 1.79345116 |
| 127 | Cutaneous finger syndactyly (HP:0010554) | 1.79296023 |
| 128 | Mitral regurgitation (HP:0001653) | 1.79274890 |
| 129 | Keratoconus (HP:0000563) | 1.78770185 |
| 130 | Increased corneal curvature (HP:0100692) | 1.78770185 |
| 131 | Osteoarthritis (HP:0002758) | 1.78569187 |
| 132 | Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161) | 1.76881301 |
| 133 | Ectopia lentis (HP:0001083) | 1.76692398 |
| 134 | Aplasia/Hypoplasia of the frontal sinuses (HP:0009119) | 1.76146971 |
| 135 | Aortic valve stenosis (HP:0001650) | 1.75874433 |
| 136 | Down-sloping shoulders (HP:0200021) | 1.75711143 |
| 137 | Thick nail (HP:0001805) | 1.75409566 |
| 138 | Abnormality of the middle phalanges of the toes (HP:0010183) | 1.75163860 |
| 139 | Broad phalanx (HP:0006009) | 1.75157892 |
| 140 | Aplasia/Hypoplasia of the clavicles (HP:0006710) | 1.74571606 |
| 141 | Venous abnormality (HP:0002624) | 1.71911132 |
| 142 | Breech presentation (HP:0001623) | 1.70019338 |
| 143 | Inguinal hernia (HP:0000023) | 1.68689023 |
| 144 | Aplasia of the musculature (HP:0100854) | 1.68638068 |
| 145 | Hallux valgus (HP:0001822) | 1.67881332 |
| 146 | Thin ribs (HP:0000883) | 1.66620034 |
| 147 | Delayed gross motor development (HP:0002194) | 1.65220185 |
| 148 | Camptodactyly of toe (HP:0001836) | 1.64939345 |
| 149 | Generalized amyotrophy (HP:0003700) | 1.64535428 |
| 150 | Round ear (HP:0100830) | 1.62910632 |
| 151 | Striae distensae (HP:0001065) | 1.62718473 |
| 152 | Abnormality of skeletal muscle fiber size (HP:0012084) | 1.61517915 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | DDR2 | 4.58862633 |
| 2 | LATS2 | 4.06896951 |
| 3 | LATS1 | 4.00346976 |
| 4 | EPHA3 | 3.60562490 |
| 5 | EPHB2 | 3.11858018 |
| 6 | SIK1 | 2.95874608 |
| 7 | NUAK1 | 2.79633749 |
| 8 | SIK3 | 2.57592798 |
| 9 | STK38L | 2.39480797 |
| 10 | ERBB3 | 2.37795654 |
| 11 | PDGFRA | 2.34463495 |
| 12 | ZAK | 2.17611234 |
| 13 | NTRK1 | 2.15520389 |
| 14 | RPS6KA4 | 2.12337932 |
| 15 | MST1R | 2.05737086 |
| 16 | CDK8 | 2.01327977 |
| 17 | FRK | 1.86055434 |
| 18 | FGFR2 | 1.81435246 |
| 19 | RIPK1 | 1.70060445 |
| 20 | NEK1 | 1.63370857 |
| 21 | PIK3CA | 1.59547359 |
| 22 | MKNK1 | 1.59219411 |
| 23 | TAOK2 | 1.58620469 |
| 24 | DMPK | 1.55136511 |
| 25 | FLT3 | 1.51386489 |
| 26 | FER | 1.50174794 |
| 27 | NEK9 | 1.49976108 |
| 28 | MYLK | 1.48900471 |
| 29 | STK3 | 1.48128299 |
| 30 | EIF2AK2 | 1.48081737 |
| 31 | MAP2K3 | 1.43646447 |
| 32 | TRPM7 | 1.36218398 |
| 33 | FGFR1 | 1.34798409 |
| 34 | MKNK2 | 1.33364610 |
| 35 | PIK3CG | 1.27439796 |
| 36 | TTN | 1.27241478 |
| 37 | MAP3K3 | 1.23162304 |
| 38 | STK38 | 1.23004595 |
| 39 | WEE1 | 1.22975858 |
| 40 | PTK2B | 1.22509940 |
| 41 | LMTK2 | 1.20570953 |
| 42 | BRD4 | 1.19105911 |
| 43 | TGFBR2 | 1.15021364 |
| 44 | EPHA2 | 1.14940223 |
| 45 | PAK2 | 1.14825825 |
| 46 | PTK2 | 1.11928166 |
| 47 | MET | 1.06937089 |
| 48 | ROCK1 | 1.06830092 |
| 49 | PDK2 | 1.06294526 |
| 50 | WNK1 | 1.06020937 |
| 51 | BMPR1B | 1.04059190 |
| 52 | CDK12 | 1.02753487 |
| 53 | GSK3A | 1.00613597 |
| 54 | PLK2 | 0.95097133 |
| 55 | PNCK | 0.93498654 |
| 56 | PAK3 | 0.93255144 |
| 57 | MAP3K6 | 0.93066548 |
| 58 | PDGFRB | 0.92627471 |
| 59 | TGFBR1 | 0.83543000 |
| 60 | MELK | 0.82929094 |
| 61 | TRIB3 | 0.81286549 |
| 62 | BCR | 0.77196614 |
| 63 | PRKD2 | 0.74763795 |
| 64 | ARAF | 0.74013556 |
| 65 | AKT3 | 0.73938231 |
| 66 | MAP3K12 | 0.71595056 |
| 67 | CASK | 0.71102396 |
| 68 | CHUK | 0.68053110 |
| 69 | GRK7 | 0.66653173 |
| 70 | PRKCE | 0.66250955 |
| 71 | ERN1 | 0.65392813 |
| 72 | INSRR | 0.64088041 |
| 73 | TESK1 | 0.64067273 |
| 74 | MAP3K14 | 0.63098743 |
| 75 | EPHB1 | 0.62414429 |
| 76 | SGK3 | 0.61209161 |
| 77 | MUSK | 0.60098548 |
| 78 | CSNK1A1L | 0.59058044 |
| 79 | MAPK7 | 0.58877736 |
| 80 | ADRBK1 | 0.58301226 |
| 81 | CCNB1 | 0.57930751 |
| 82 | BMX | 0.57264646 |
| 83 | ICK | 0.56766182 |
| 84 | CLK1 | 0.56269530 |
| 85 | RPS6KA2 | 0.56259731 |
| 86 | LIMK1 | 0.56150539 |
| 87 | YES1 | 0.55934640 |
| 88 | PTK6 | 0.53449978 |
| 89 | PRKD1 | 0.52873729 |
| 90 | ERBB2 | 0.52470810 |
| 91 | INSR | 0.51938843 |
| 92 | PIM2 | 0.50708784 |
| 93 | STK24 | 0.50604599 |
| 94 | NEK6 | 0.50336507 |
| 95 | KIT | 0.50248925 |
| 96 | IGF1R | 0.49921251 |
| 97 | MAPK13 | 0.49732517 |
| 98 | KDR | 0.48920266 |
| 99 | PLK3 | 0.48533365 |
| 100 | NEK2 | 0.48399685 |
| 101 | GRK5 | 0.48121902 |
| 102 | CDK3 | 0.47013921 |
| 103 | MAPKAPK3 | 0.46666514 |
| 104 | CDK7 | 0.46152091 |
| 105 | PRKG2 | 0.45427494 |
| 106 | PRKCH | 0.44921085 |
| 107 | NLK | 0.43611547 |
| 108 | PAK4 | 0.42782361 |
| 109 | ERBB4 | 0.42739873 |
| 110 | SGK494 | 0.40744422 |
| 111 | SGK223 | 0.40744422 |
| 112 | CDC42BPA | 0.39807286 |
| 113 | MTOR | 0.39492653 |
| 114 | MAP2K1 | 0.38402822 |
| 115 | PKN2 | 0.38135395 |
| 116 | CAMK1D | 0.37457267 |
| 117 | PAK6 | 0.37282729 |
| 118 | MAPK1 | 0.36741689 |
| 119 | MOS | 0.35535746 |
| 120 | PBK | 0.34806034 |
| 121 | IRAK1 | 0.34316747 |
| 122 | DAPK3 | 0.33853041 |
| 123 | CAMK2G | 0.32537969 |
| 124 | ABL1 | 0.32140769 |
| 125 | ROCK2 | 0.30702207 |
| 126 | BRSK1 | 0.30452563 |
| 127 | MARK3 | 0.29918046 |
| 128 | PAK1 | 0.29912421 |
| 129 | CDK9 | 0.28657919 |
| 130 | TIE1 | 0.28086192 |
| 131 | CDK6 | 0.27907902 |
| 132 | SRC | 0.27900942 |
| 133 | CHEK2 | 0.27232679 |
| 134 | MAPKAPK2 | 0.27059595 |
| 135 | JAK3 | 0.26971950 |
| 136 | BRSK2 | 0.26693112 |
| 137 | IKBKB | 0.26591626 |
| 138 | CAMK2D | 0.25987967 |
| 139 | ILK | 0.25254230 |
| 140 | ABL2 | 0.24430867 |
| 141 | PRKD3 | 0.23798063 |
| 142 | GRK1 | 0.23675098 |
| 143 | CSNK1G1 | 0.23348201 |
| 144 | JAK1 | 0.22922437 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | ECM-receptor interaction_Homo sapiens_hsa04512 | 3.83684137 |
| 2 | Basal cell carcinoma_Homo sapiens_hsa05217 | 3.37634190 |
| 3 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 2.78623805 |
| 4 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 2.71736681 |
| 5 | Focal adhesion_Homo sapiens_hsa04510 | 2.55693843 |
| 6 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 2.49024202 |
| 7 | Sulfur metabolism_Homo sapiens_hsa00920 | 2.39561547 |
| 8 | * Adherens junction_Homo sapiens_hsa04520 | 2.13486542 |
| 9 | Malaria_Homo sapiens_hsa05144 | 2.09709934 |
| 10 | Protein digestion and absorption_Homo sapiens_hsa04974 | 2.09408280 |
| 11 | * Hippo signaling pathway_Homo sapiens_hsa04390 | 2.09402685 |
| 12 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 2.00072289 |
| 13 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 1.97870311 |
| 14 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 1.93925173 |
| 15 | Melanoma_Homo sapiens_hsa05218 | 1.93672400 |
| 16 | Wnt signaling pathway_Homo sapiens_hsa04310 | 1.87644771 |
| 17 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 1.80700798 |
| 18 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 1.79896028 |
| 19 | Sulfur relay system_Homo sapiens_hsa04122 | 1.73218987 |
| 20 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 1.70593359 |
| 21 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 1.67780941 |
| 22 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.65952767 |
| 23 | Axon guidance_Homo sapiens_hsa04360 | 1.63058058 |
| 24 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 1.60960634 |
| 25 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 1.59805897 |
| 26 | Prostate cancer_Homo sapiens_hsa05215 | 1.53242220 |
| 27 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 1.47899135 |
| 28 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 1.42887553 |
| 29 | Small cell lung cancer_Homo sapiens_hsa05222 | 1.42021107 |
| 30 | Pathways in cancer_Homo sapiens_hsa05200 | 1.38680142 |
| 31 | Amoebiasis_Homo sapiens_hsa05146 | 1.38170411 |
| 32 | TNF signaling pathway_Homo sapiens_hsa04668 | 1.26563953 |
| 33 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 1.22890335 |
| 34 | Galactose metabolism_Homo sapiens_hsa00052 | 1.19365251 |
| 35 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 1.18620087 |
| 36 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 1.18357026 |
| 37 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 1.15700797 |
| 38 | p53 signaling pathway_Homo sapiens_hsa04115 | 1.14811627 |
| 39 | HTLV-I infection_Homo sapiens_hsa05166 | 1.09813064 |
| 40 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 1.08261970 |
| 41 | Tyrosine metabolism_Homo sapiens_hsa00350 | 1.05863399 |
| 42 | Thyroid cancer_Homo sapiens_hsa05216 | 1.05282025 |
| 43 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 1.05134243 |
| 44 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.04371067 |
| 45 | Bladder cancer_Homo sapiens_hsa05219 | 1.01229074 |
| 46 | Prion diseases_Homo sapiens_hsa05020 | 1.00936638 |
| 47 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.99648373 |
| 48 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 0.91639713 |
| 49 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.88788624 |
| 50 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.88736287 |
| 51 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.88466320 |
| 52 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.85249043 |
| 53 | Gap junction_Homo sapiens_hsa04540 | 0.85072919 |
| 54 | Shigellosis_Homo sapiens_hsa05131 | 0.84279885 |
| 55 | Viral myocarditis_Homo sapiens_hsa05416 | 0.83749754 |
| 56 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 0.80985273 |
| 57 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 0.79969437 |
| 58 | Ras signaling pathway_Homo sapiens_hsa04014 | 0.79607292 |
| 59 | Cell cycle_Homo sapiens_hsa04110 | 0.79016445 |
| 60 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.78550100 |
| 61 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 0.77931161 |
| 62 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.77913191 |
| 63 | Protein export_Homo sapiens_hsa03060 | 0.77844423 |
| 64 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 0.77347464 |
| 65 | Other glycan degradation_Homo sapiens_hsa00511 | 0.77246974 |
| 66 | Melanogenesis_Homo sapiens_hsa04916 | 0.75019733 |
| 67 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.73486225 |
| 68 | Phagosome_Homo sapiens_hsa04145 | 0.71667270 |
| 69 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.71164402 |
| 70 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.70353688 |
| 71 | Hepatitis B_Homo sapiens_hsa05161 | 0.70232377 |
| 72 | Retinol metabolism_Homo sapiens_hsa00830 | 0.68971641 |
| 73 | Lysine degradation_Homo sapiens_hsa00310 | 0.67710944 |
| 74 | Tight junction_Homo sapiens_hsa04530 | 0.67652905 |
| 75 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.67497241 |
| 76 | Toll-like receptor signaling pathway_Homo sapiens_hsa04620 | 0.66454205 |
| 77 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.64398769 |
| 78 | Endocytosis_Homo sapiens_hsa04144 | 0.64095979 |
| 79 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.63677430 |
| 80 | Platelet activation_Homo sapiens_hsa04611 | 0.62782447 |
| 81 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.62629647 |
| 82 | Basal transcription factors_Homo sapiens_hsa03022 | 0.59485969 |
| 83 | Renal cell carcinoma_Homo sapiens_hsa05211 | 0.58947430 |
| 84 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 0.57802673 |
| 85 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.57649004 |
| 86 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.57547345 |
| 87 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.57314159 |
| 88 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.56666088 |
| 89 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.55138161 |
| 90 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.54232322 |
| 91 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.53654390 |
| 92 | Measles_Homo sapiens_hsa05162 | 0.53177437 |
| 93 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.52503338 |
| 94 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.51202120 |
| 95 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.50680078 |
| 96 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.49186036 |
| 97 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.48742315 |
| 98 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.48077166 |
| 99 | FoxO signaling pathway_Homo sapiens_hsa04068 | 0.48012019 |
| 100 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 0.47599107 |
| 101 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.46553186 |
| 102 | Renin secretion_Homo sapiens_hsa04924 | 0.45623713 |
| 103 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.45038009 |
| 104 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.44141583 |
| 105 | Colorectal cancer_Homo sapiens_hsa05210 | 0.44060619 |
| 106 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 0.43559005 |
| 107 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.43484226 |
| 108 | Apoptosis_Homo sapiens_hsa04210 | 0.43420435 |
| 109 | African trypanosomiasis_Homo sapiens_hsa05143 | 0.43103943 |
| 110 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.41963462 |
| 111 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.41894988 |
| 112 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.41356692 |
| 113 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.40921286 |
| 114 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.39694288 |
| 115 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 0.38292124 |
| 116 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.38284732 |
| 117 | Mineral absorption_Homo sapiens_hsa04978 | 0.38142519 |
| 118 | Leishmaniasis_Homo sapiens_hsa05140 | 0.37813066 |
| 119 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.36982895 |
| 120 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.36681372 |
| 121 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.36536758 |
| 122 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.35841766 |
| 123 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.35060878 |
| 124 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.33898413 |
| 125 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.33825271 |
| 126 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.33718291 |
| 127 | Glioma_Homo sapiens_hsa05214 | 0.33168981 |
| 128 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.31155312 |
| 129 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.30539063 |
| 130 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.29356870 |
| 131 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.28061210 |
| 132 | Endometrial cancer_Homo sapiens_hsa05213 | 0.27741964 |
| 133 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.27686199 |
| 134 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.27298503 |
| 135 | GABAergic synapse_Homo sapiens_hsa04727 | 0.27218405 |
| 136 | Pertussis_Homo sapiens_hsa05133 | 0.25141040 |
| 137 | Circadian rhythm_Homo sapiens_hsa04710 | 0.21798465 |
| 138 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.20591863 |
| 139 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.19850454 |

