

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | atrioventricular valve morphogenesis (GO:0003181) | 3.93541808 |
| 2 | lymph vessel development (GO:0001945) | 3.93419928 |
| 3 | outer ear morphogenesis (GO:0042473) | 3.90390379 |
| 4 | chondrocyte proliferation (GO:0035988) | 3.90180939 |
| 5 | basement membrane organization (GO:0071711) | 3.79123184 |
| 6 | notochord development (GO:0030903) | 3.75169550 |
| 7 | endocardial cushion morphogenesis (GO:0003203) | 3.75166685 |
| 8 | mesenchyme morphogenesis (GO:0072132) | 3.73606411 |
| 9 | protein retention in ER lumen (GO:0006621) | 3.67993298 |
| 10 | paraxial mesoderm development (GO:0048339) | 3.66867844 |
| 11 | maintenance of protein localization in endoplasmic reticulum (GO:0035437) | 3.65910641 |
| 12 | hemidesmosome assembly (GO:0031581) | 3.64572751 |
| 13 | Golgi transport vesicle coating (GO:0048200) | 3.58480460 |
| 14 | COPI coating of Golgi vesicle (GO:0048205) | 3.58480460 |
| 15 | viral transcription (GO:0019083) | 3.54493281 |
| 16 | desmosome organization (GO:0002934) | 3.53537273 |
| 17 | cell surface receptor signaling pathway involved in heart development (GO:0061311) | 3.51650266 |
| 18 | translational termination (GO:0006415) | 3.41877081 |
| 19 | Notch signaling involved in heart development (GO:0061314) | 3.41612304 |
| 20 | polarized epithelial cell differentiation (GO:0030859) | 3.39884651 |
| 21 | epithelial cell-cell adhesion (GO:0090136) | 3.34693980 |
| 22 | regulation of heart morphogenesis (GO:2000826) | 3.27680574 |
| 23 | bundle of His cell to Purkinje myocyte communication (GO:0086069) | 3.27571840 |
| 24 | negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394) | 3.24622376 |
| 25 | endothelium development (GO:0003158) | 3.21463162 |
| 26 | morphogenesis of an endothelium (GO:0003159) | 3.20889364 |
| 27 | endothelial tube morphogenesis (GO:0061154) | 3.20889364 |
| 28 | cell proliferation involved in kidney development (GO:0072111) | 3.18705035 |
| 29 | establishment of apical/basal cell polarity (GO:0035089) | 3.18137075 |
| 30 | regulation of transcription from RNA polymerase II promoter involved in heart development (GO:190121 | 3.17008710 |
| 31 | regulation of establishment of planar polarity involved in neural tube closure (GO:0090178) | 3.12982768 |
| 32 | positive regulation of epithelial to mesenchymal transition (GO:0010718) | 3.10000162 |
| 33 | regulation of tight junction assembly (GO:2000810) | 3.09684461 |
| 34 | regulation of Wnt signaling pathway involved in heart development (GO:0003307) | 3.07586993 |
| 35 | vascular endothelial growth factor signaling pathway (GO:0038084) | 3.05451453 |
| 36 | ribosomal small subunit assembly (GO:0000028) | 3.03177795 |
| 37 | mesenchymal cell proliferation (GO:0010463) | 3.02288163 |
| 38 | heart valve morphogenesis (GO:0003179) | 3.02205466 |
| 39 | cell migration involved in heart development (GO:0060973) | 3.02078413 |
| 40 | renal filtration (GO:0097205) | 3.01146657 |
| 41 | adherens junction assembly (GO:0034333) | 2.99357266 |
| 42 | middle ear morphogenesis (GO:0042474) | 2.98156357 |
| 43 | translational elongation (GO:0006414) | 2.97905303 |
| 44 | regulation of endothelial cell differentiation (GO:0045601) | 2.97267857 |
| 45 | regulation of posttranscriptional gene silencing (GO:0060147) | 2.95949234 |
| 46 | regulation of gene silencing by miRNA (GO:0060964) | 2.95949234 |
| 47 | regulation of gene silencing by RNA (GO:0060966) | 2.95949234 |
| 48 | negative regulation of cell fate specification (GO:0009996) | 2.93719212 |
| 49 | cellular response to vascular endothelial growth factor stimulus (GO:0035924) | 2.91293937 |
| 50 | ribosomal small subunit biogenesis (GO:0042274) | 2.89741094 |
| 51 | cell-substrate junction assembly (GO:0007044) | 2.88552020 |
| 52 | negative regulation of chondrocyte differentiation (GO:0032331) | 2.88322132 |
| 53 | regulation of hippo signaling (GO:0035330) | 2.87822826 |
| 54 | gap junction assembly (GO:0016264) | 2.87156557 |
| 55 | epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198) | 2.86830349 |
| 56 | proline biosynthetic process (GO:0006561) | 2.86622429 |
| 57 | focal adhesion assembly (GO:0048041) | 2.85498205 |
| 58 | cell-substrate adherens junction assembly (GO:0007045) | 2.85498205 |
| 59 | positive regulation of cartilage development (GO:0061036) | 2.85315611 |
| 60 | branching involved in mammary gland duct morphogenesis (GO:0060444) | 2.85083229 |
| 61 | G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199 | 2.85075430 |
| 62 | regulation of vascular endothelial growth factor signaling pathway (GO:1900746) | 2.83697071 |
| 63 | protein hydroxylation (GO:0018126) | 2.82507110 |
| 64 | regulation of SMAD protein import into nucleus (GO:0060390) | 2.82079269 |
| 65 | negative regulation of myoblast differentiation (GO:0045662) | 2.81954419 |
| 66 | cell migration involved in sprouting angiogenesis (GO:0002042) | 2.80915161 |
| 67 | lymphangiogenesis (GO:0001946) | 2.80043433 |
| 68 | viral life cycle (GO:0019058) | 2.80025334 |
| 69 | cardiac epithelial to mesenchymal transition (GO:0060317) | 2.79717251 |
| 70 | retina vasculature morphogenesis in camera-type eye (GO:0061299) | 2.77679123 |
| 71 | regulation of cardioblast proliferation (GO:0003264) | 2.77158498 |
| 72 | regulation of secondary heart field cardioblast proliferation (GO:0003266) | 2.77158498 |
| 73 | NADH metabolic process (GO:0006734) | 2.76307358 |
| 74 | mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337) | 2.74849234 |
| 75 | SRP-dependent cotranslational protein targeting to membrane (GO:0006614) | 2.74567865 |
| 76 | midgut development (GO:0007494) | 2.74301921 |
| 77 | positive regulation of osteoblast proliferation (GO:0033690) | 2.74120577 |
| 78 | embryonic skeletal joint morphogenesis (GO:0060272) | 2.73585261 |
| 79 | planar cell polarity pathway involved in neural tube closure (GO:0090179) | 2.73370830 |
| 80 | protein maturation by protein folding (GO:0022417) | 2.71896459 |
| 81 | protein targeting to ER (GO:0045047) | 2.71561024 |
| 82 | glomerular filtration (GO:0003094) | 2.70558307 |
| 83 | mesodermal cell differentiation (GO:0048333) | 2.68875151 |
| 84 | hippo signaling (GO:0035329) | 2.68662633 |
| 85 | respiratory tube development (GO:0030323) | 2.68214582 |
| 86 | regulation of apoptotic process involved in morphogenesis (GO:1902337) | 2.67172362 |
| 87 | embryonic process involved in female pregnancy (GO:0060136) | 2.66780843 |
| 88 | neural crest cell development (GO:0014032) | 2.66401999 |
| 89 | convergent extension (GO:0060026) | 2.66037572 |
| 90 | regulation of cell fate specification (GO:0042659) | 2.65964666 |
| 91 | wound healing, spreading of epidermal cells (GO:0035313) | 2.65591883 |
| 92 | cell proliferation involved in metanephros development (GO:0072203) | 2.65239245 |
| 93 | * endothelial cell morphogenesis (GO:0001886) | 2.63701525 |
| 94 | regulation of cardioblast differentiation (GO:0051890) | 2.63347098 |
| 95 | cotranslational protein targeting to membrane (GO:0006613) | 2.62646812 |
| 96 | positive regulation of endothelial cell differentiation (GO:0045603) | 2.62279899 |
| 97 | GDP-mannose metabolic process (GO:0019673) | 2.61383912 |
| 98 | cellular protein complex localization (GO:0034629) | 2.61059735 |
| 99 | ventricular cardiac muscle cell development (GO:0055015) | 2.60563781 |
| 100 | cellular protein complex disassembly (GO:0043624) | 2.58196386 |
| 101 | 4-hydroxyproline metabolic process (GO:0019471) | 2.58100154 |
| 102 | renal system development (GO:0072001) | 2.57587536 |
| 103 | positive regulation of SMAD protein import into nucleus (GO:0060391) | 2.57215967 |
| 104 | regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547) | 2.57178319 |
| 105 | negative regulation of catenin import into nucleus (GO:0035414) | 2.57003929 |
| 106 | urea cycle (GO:0000050) | 2.56811973 |
| 107 | aorta morphogenesis (GO:0035909) | 2.56696158 |
| 108 | endocardial cushion development (GO:0003197) | 2.56652500 |
| 109 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184) | 2.56552005 |
| 110 | endodermal cell differentiation (GO:0035987) | 2.54634883 |
| 111 | establishment of protein localization to endoplasmic reticulum (GO:0072599) | 2.54459372 |
| 112 | metanephric mesenchyme development (GO:0072075) | 2.54274693 |
| 113 | branching involved in salivary gland morphogenesis (GO:0060445) | 2.52846615 |
| 114 | neuron projection extension involved in neuron projection guidance (GO:1902284) | 2.52027081 |
| 115 | axon extension involved in axon guidance (GO:0048846) | 2.52027081 |
| 116 | regulation of translational fidelity (GO:0006450) | 2.51492515 |
| 117 | protein heterotrimerization (GO:0070208) | 2.50029971 |
| 118 | * blood vessel endothelial cell migration (GO:0043534) | 2.49324548 |
| 119 | wound healing, spreading of cells (GO:0044319) | 2.49284794 |
| 120 | kidney mesenchyme development (GO:0072074) | 2.49217238 |
| 121 | positive regulation of endothelial cell apoptotic process (GO:2000353) | 2.48544706 |
| 122 | organ formation (GO:0048645) | 2.48502386 |
| 123 | negative regulation of keratinocyte proliferation (GO:0010839) | 2.48347083 |
| 124 | nucleobase-containing small molecule interconversion (GO:0015949) | 2.48215743 |
| 125 | regulation of cell proliferation involved in heart morphogenesis (GO:2000136) | 2.48136400 |
| 126 | activation of Rac GTPase activity (GO:0032863) | 2.47373583 |
| 127 | Wnt signaling pathway, planar cell polarity pathway (GO:0060071) | 2.46999648 |
| 128 | translational initiation (GO:0006413) | 2.46961836 |
| 129 | establishment or maintenance of monopolar cell polarity (GO:0061339) | 2.46026115 |
| 130 | establishment of monopolar cell polarity (GO:0061162) | 2.46026115 |
| 131 | protein localization to endoplasmic reticulum (GO:0070972) | 2.45194800 |
| 132 | regulation of gastrulation (GO:0010470) | 2.45122323 |
| 133 | vasculogenesis (GO:0001570) | 2.44916675 |
| 134 | lung epithelium development (GO:0060428) | 2.44484958 |
| 135 | organ induction (GO:0001759) | 2.43884879 |
| 136 | regulation of cholesterol homeostasis (GO:2000188) | 2.43555641 |
| 137 | response to laminar fluid shear stress (GO:0034616) | 2.39403345 |
| 138 | protein complex localization (GO:0031503) | 2.38999817 |
| 139 | nucleotide-sugar biosynthetic process (GO:0009226) | 2.37486134 |
| 140 | morphogenesis of embryonic epithelium (GO:0016331) | 2.34315012 |
| 141 | retrograde vesicle-mediated transport, Golgi to ER (GO:0006890) | 2.33227255 |
| 142 | regulation of glucocorticoid metabolic process (GO:0031943) | 2.32257581 |
| 143 | muscle cell migration (GO:0014812) | 2.30506685 |
| 144 | urea metabolic process (GO:0019627) | 2.30439917 |
| 145 | regulation of establishment of planar polarity (GO:0090175) | 2.30132296 |
| 146 | proline metabolic process (GO:0006560) | 2.27635699 |
| 147 | negative regulation of peptidyl-serine phosphorylation (GO:0033137) | 2.26977440 |
| 148 | regulation of mitotic spindle organization (GO:0060236) | 2.26486123 |
| 149 | non-canonical Wnt signaling pathway (GO:0035567) | 2.26230501 |
| 150 | barbed-end actin filament capping (GO:0051016) | 2.26169961 |
| 151 | establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197) | 2.25409725 |
| 152 | mitotic chromosome condensation (GO:0007076) | 2.25398325 |
| 153 | positive regulation of pseudopodium assembly (GO:0031274) | 2.24944548 |
| 154 | mitotic nuclear envelope reassembly (GO:0007084) | 2.24635683 |
| 155 | nuclear envelope reassembly (GO:0031468) | 2.24635683 |
| 156 | protein localization to cell surface (GO:0034394) | 2.24384535 |
| 157 | peptidyl-proline hydroxylation (GO:0019511) | 2.24374326 |
| 158 | skin morphogenesis (GO:0043589) | 2.21117015 |
| 159 | actin filament depolymerization (GO:0030042) | 2.19865760 |
| 160 | regulation of metalloenzyme activity (GO:0048552) | 2.19272893 |
| 161 | glutamine family amino acid biosynthetic process (GO:0009084) | 2.18711196 |
| 162 | apoptotic process involved in morphogenesis (GO:0060561) | 2.17889477 |
| 163 | regulation of catenin import into nucleus (GO:0035412) | 2.17430607 |
| 164 | glucose catabolic process (GO:0006007) | 2.12901797 |
| 165 | endothelial cell chemotaxis (GO:0035767) | 2.11926916 |
| 166 | regulation of mammary gland epithelial cell proliferation (GO:0033599) | 2.11896859 |
| 167 | negative regulation of cartilage development (GO:0061037) | 2.11599702 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 8.50215801 |
| 2 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 4.62448760 |
| 3 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 4.32272428 |
| 4 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 3.54967380 |
| 5 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 3.50378072 |
| 6 | * CLOCK_20551151_ChIP-Seq_293T_Human | 2.74422276 |
| 7 | KLF2_18264089_ChIP-ChIP_MESCs_Mouse | 2.72529768 |
| 8 | KLF5_18264089_ChIP-ChIP_MESCs_Mouse | 2.72529768 |
| 9 | KLF4_18264089_ChIP-ChIP_MESCs_Mouse | 2.72529768 |
| 10 | * NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 2.53456681 |
| 11 | * SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 2.48380332 |
| 12 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 2.43871397 |
| 13 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 2.43713335 |
| 14 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 2.22117871 |
| 15 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 2.21458388 |
| 16 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 2.05567557 |
| 17 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 2.02234957 |
| 18 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 2.00287181 |
| 19 | * ELK3_25401928_ChIP-Seq_HUVEC_Human | 1.98541845 |
| 20 | * TCF3_18692474_ChIP-Seq_MEFs_Mouse | 1.93377890 |
| 21 | ZFP281_18358816_ChIP-ChIP_MESCs_Mouse | 1.92120587 |
| 22 | E2F7_22180533_ChIP-Seq_HELA_Human | 1.84382768 |
| 23 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 1.84145027 |
| 24 | * DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 1.81380880 |
| 25 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 1.79834674 |
| 26 | RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 1.78744274 |
| 27 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 1.74665876 |
| 28 | ZIC3_20872845_ChIP-ChIP_MESCs_Mouse | 1.73748461 |
| 29 | KLF4_18358816_ChIP-ChIP_MESCs_Mouse | 1.73199653 |
| 30 | * CDX2_20551321_ChIP-Seq_CACO-2_Human | 1.71882826 |
| 31 | * SMAD3_18955504_ChIP-ChIP_HaCaT_Human | 1.71427724 |
| 32 | * SMAD2_18955504_ChIP-ChIP_HaCaT_Human | 1.71427724 |
| 33 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 1.68765589 |
| 34 | ZNF263_19887448_ChIP-Seq_K562_Human | 1.68554921 |
| 35 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 1.66606042 |
| 36 | * TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.66305114 |
| 37 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 1.64616262 |
| 38 | KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.64514873 |
| 39 | * ATF3_27146783_Chip-Seq_COLON_Human | 1.62342144 |
| 40 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.62075543 |
| 41 | * SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 1.61529587 |
| 42 | STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse | 1.59791113 |
| 43 | * RACK7_27058665_Chip-Seq_MCF-7_Human | 1.53410128 |
| 44 | * EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse | 1.51682553 |
| 45 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 1.50504339 |
| 46 | * ATF3_23680149_ChIP-Seq_GBM1-GSC_Human | 1.49678693 |
| 47 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 1.49140914 |
| 48 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.48971708 |
| 49 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 1.47324641 |
| 50 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.45135235 |
| 51 | SALL4_18804426_ChIP-ChIP_XEN_Mouse | 1.43598081 |
| 52 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 1.43456568 |
| 53 | SOX2_20726797_ChIP-Seq_SW620_Human | 1.41984290 |
| 54 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 1.41392080 |
| 55 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.40929853 |
| 56 | KLF4_19030024_ChIP-ChIP_MESCs_Mouse | 1.38704321 |
| 57 | KLF4_18555785_ChIP-Seq_MESCs_Mouse | 1.38060939 |
| 58 | * FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 1.33474637 |
| 59 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 1.32825962 |
| 60 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 1.30159530 |
| 61 | SOX2_18555785_ChIP-Seq_MESCs_Mouse | 1.30134616 |
| 62 | * SOX2_18692474_ChIP-Seq_MEFs_Mouse | 1.29483588 |
| 63 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.29245975 |
| 64 | RXR_22158963_ChIP-Seq_LIVER_Mouse | 1.28966280 |
| 65 | KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.27997229 |
| 66 | PPAR_26484153_Chip-Seq_NCI-H1993_Human | 1.27874978 |
| 67 | * TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 1.27802972 |
| 68 | ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.26945884 |
| 69 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.26683914 |
| 70 | * OCT4_18692474_ChIP-Seq_MEFs_Mouse | 1.24267219 |
| 71 | * EOMES_20176728_ChIP-ChIP_TSCs_Mouse | 1.24119196 |
| 72 | TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 1.24001532 |
| 73 | TP53_20018659_ChIP-ChIP_R1E_Mouse | 1.22939628 |
| 74 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.22663613 |
| 75 | * PPARA_22158963_ChIP-Seq_LIVER_Mouse | 1.21820376 |
| 76 | * NR0B1_18358816_ChIP-ChIP_MESCs_Mouse | 1.20904868 |
| 77 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 1.20640906 |
| 78 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.18591203 |
| 79 | SMAD1_18555785_ChIP-Seq_MESCs_Mouse | 1.18555527 |
| 80 | * UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 1.17848176 |
| 81 | UBF1/2_26484160_Chip-Seq_HMECs_Human | 1.17760189 |
| 82 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 1.17102707 |
| 83 | CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 1.16628714 |
| 84 | ERG_21242973_ChIP-ChIP_JURKAT_Human | 1.16278337 |
| 85 | * XRN2_22483619_ChIP-Seq_HELA_Human | 1.15764663 |
| 86 | P63_26484246_Chip-Seq_KERATINOCYTES_Human | 1.15103958 |
| 87 | * NANOG_18555785_ChIP-Seq_MESCs_Mouse | 1.14547354 |
| 88 | ZFP281_18757296_ChIP-ChIP_E14_Mouse | 1.14006264 |
| 89 | RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human | 1.11190288 |
| 90 | * GATA6_25053715_ChIP-Seq_YYC3_Human | 1.10982747 |
| 91 | * SOX2_27498859_Chip-Seq_STOMACH_Mouse | 1.10540858 |
| 92 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.10020337 |
| 93 | SREBP2_21459322_ChIP-Seq_LIVER_Mouse | 1.08198984 |
| 94 | CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human | 1.08139604 |
| 95 | NKX2-5_21415370_ChIP-Seq_HL-1_Mouse | 1.07771417 |
| 96 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.06922040 |
| 97 | * SOX2_18358816_ChIP-ChIP_MESCs_Mouse | 1.06850809 |
| 98 | FOXO3_23340844_ChIP-Seq_DLD1_Human | 1.05417547 |
| 99 | ESR1_15608294_ChIP-ChIP_MCF-7_Human | 1.05388214 |
| 100 | * NANOG_18692474_ChIP-Seq_MEFs_Mouse | 1.04741572 |
| 101 | TP53_22127205_ChIP-Seq_IMR90_Human | 1.04385558 |
| 102 | * CJUN_26792858_Chip-Seq_BT549_Human | 1.04153256 |
| 103 | CNOT3_19339689_ChIP-ChIP_MESCs_Mouse | 1.04100621 |
| 104 | FOXO1_23066095_ChIP-Seq_LIVER_Mouse | 1.03835937 |
| 105 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.03113162 |
| 106 | * GATA4_25053715_ChIP-Seq_YYC3_Human | 1.02793140 |
| 107 | SRY_22984422_ChIP-ChIP_TESTIS_Rat | 1.02150588 |
| 108 | SOX9_24532713_ChIP-Seq_HFSC_Mouse | 1.02003104 |
| 109 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.00823076 |
| 110 | * SMC1_22415368_ChIP-Seq_MEFs_Mouse | 1.00562863 |
| 111 | ELK1_22589737_ChIP-Seq_MCF10A_Human | 1.00339104 |
| 112 | SREBP1_19666523_ChIP-Seq_LIVER_Mouse | 0.99993662 |
| 113 | * TCF3_18692474_ChIP-Seq_MESCs_Mouse | 0.99882705 |
| 114 | * E2F1_18555785_ChIP-Seq_MESCs_Mouse | 0.97470851 |
| 115 | WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 0.96507596 |
| 116 | * BRD4_25478319_ChIP-Seq_HGPS_Human | 0.96176436 |
| 117 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 0.95993597 |
| 118 | * HNF4A_19761587_ChIP-ChIP_CACO-2_Human | 0.95802463 |
| 119 | RUNX1_27514584_Chip-Seq_MCF-7_Human | 0.94273087 |
| 120 | * SETDB1_19884255_ChIP-Seq_MESCs_Mouse | 0.94071604 |
| 121 | * KDM2B_26808549_Chip-Seq_K562_Human | 0.93899641 |
| 122 | EP300_21415370_ChIP-Seq_HL-1_Mouse | 0.93725674 |
| 123 | CREB1_26743006_Chip-Seq_LNCaP-abl_Human | 0.93588429 |
| 124 | * ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.93398006 |
| 125 | WT1_19549856_ChIP-ChIP_CCG9911_Human | 0.93148043 |
| 126 | * JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 0.93071944 |
| 127 | * SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 0.92971402 |
| 128 | EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 0.92627901 |
| 129 | P300_27058665_Chip-Seq_ZR-75-30cells_Human | 0.91680219 |
| 130 | LXR_22292898_ChIP-Seq_THP-1_Human | 0.90386922 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0010030_abnormal_orbit_morphology | 3.65308861 |
| 2 | MP0004272_abnormal_basement_membrane | 3.20648747 |
| 3 | MP0003705_abnormal_hypodermis_morpholog | 3.17850163 |
| 4 | MP0010368_abnormal_lymphatic_system | 3.02912160 |
| 5 | MP0003941_abnormal_skin_development | 2.82533657 |
| 6 | MP0008438_abnormal_cutaneous_collagen | 2.75532696 |
| 7 | MP0010234_abnormal_vibrissa_follicle | 2.57482662 |
| 8 | MP0009053_abnormal_anal_canal | 2.37131591 |
| 9 | MP0001879_abnormal_lymphatic_vessel | 2.37046887 |
| 10 | MP0005275_abnormal_skin_tensile | 2.32989090 |
| 11 | MP0000537_abnormal_urethra_morphology | 2.29767673 |
| 12 | MP0005360_urolithiasis | 2.25045390 |
| 13 | MP0003279_aneurysm | 2.11816079 |
| 14 | MP0003566_abnormal_cell_adhesion | 2.09092859 |
| 15 | MP0005167_abnormal_blood-brain_barrier | 2.02924532 |
| 16 | MP0004858_abnormal_nervous_system | 1.93243791 |
| 17 | MP0006054_spinal_hemorrhage | 1.92995274 |
| 18 | MP0000579_abnormal_nail_morphology | 1.86595794 |
| 19 | MP0005503_abnormal_tendon_morphology | 1.81492109 |
| 20 | MP0005367_renal/urinary_system_phenotyp | 1.78359841 |
| 21 | MP0000516_abnormal_urinary_system | 1.78359841 |
| 22 | MP0000013_abnormal_adipose_tissue | 1.76943141 |
| 23 | MP0005623_abnormal_meninges_morphology | 1.73061722 |
| 24 | MP0000003_abnormal_adipose_tissue | 1.69174571 |
| 25 | MP0010352_gastrointestinal_tract_polyps | 1.68084681 |
| 26 | MP0000049_abnormal_middle_ear | 1.67447806 |
| 27 | MP0003385_abnormal_body_wall | 1.66771812 |
| 28 | MP0004185_abnormal_adipocyte_glucose | 1.66533684 |
| 29 | MP0000762_abnormal_tongue_morphology | 1.64072721 |
| 30 | MP0009780_abnormal_chondrocyte_physiolo | 1.62280176 |
| 31 | MP0009379_abnormal_foot_pigmentation | 1.60942869 |
| 32 | MP0005023_abnormal_wound_healing | 1.60178504 |
| 33 | MP0001661_extended_life_span | 1.57528632 |
| 34 | MP0005508_abnormal_skeleton_morphology | 1.53816974 |
| 35 | MP0002282_abnormal_trachea_morphology | 1.53028295 |
| 36 | MP0002796_impaired_skin_barrier | 1.49636064 |
| 37 | MP0002060_abnormal_skin_morphology | 1.48931758 |
| 38 | MP0003942_abnormal_urinary_system | 1.46216558 |
| 39 | MP0009384_cardiac_valve_regurgitation | 1.46200095 |
| 40 | MP0002249_abnormal_larynx_morphology | 1.45816579 |
| 41 | MP0009250_abnormal_appendicular_skeleto | 1.45004738 |
| 42 | MP0001958_emphysema | 1.43366284 |
| 43 | MP0003283_abnormal_digestive_organ | 1.41260156 |
| 44 | MP0000751_myopathy | 1.38920975 |
| 45 | MP0000534_abnormal_ureter_morphology | 1.36571551 |
| 46 | MP0000767_abnormal_smooth_muscle | 1.35079690 |
| 47 | MP0000733_abnormal_muscle_development | 1.32704627 |
| 48 | MP0003828_pulmonary_edema | 1.32637300 |
| 49 | MP0002932_abnormal_joint_morphology | 1.29450584 |
| 50 | MP0001849_ear_inflammation | 1.29149231 |
| 51 | MP0003878_abnormal_ear_physiology | 1.27860171 |
| 52 | MP0005377_hearing/vestibular/ear_phenot | 1.27860171 |
| 53 | MP0005501_abnormal_skin_physiology | 1.24547196 |
| 54 | MP0002089_abnormal_postnatal_growth/wei | 1.22913605 |
| 55 | MP0003453_abnormal_keratinocyte_physiol | 1.20278751 |
| 56 | MP0000750_abnormal_muscle_regeneration | 1.18144940 |
| 57 | MP0005083_abnormal_biliary_tract | 1.17274635 |
| 58 | MP0003937_abnormal_limbs/digits/tail_de | 1.16641708 |
| 59 | MP0005375_adipose_tissue_phenotype | 1.15168129 |
| 60 | MP0002697_abnormal_eye_size | 1.13836629 |
| 61 | MP0000566_synostosis | 1.12562665 |
| 62 | MP0003115_abnormal_respiratory_system | 1.11491438 |
| 63 | MP0002098_abnormal_vibrissa_morphology | 1.11195333 |
| 64 | MP0000678_abnormal_parathyroid_gland | 1.10299099 |
| 65 | MP0005409_darkened_coat_color | 1.09268996 |
| 66 | MP0003755_abnormal_palate_morphology | 1.07813356 |
| 67 | MP0002295_abnormal_pulmonary_circulatio | 1.07351951 |
| 68 | MP0002925_abnormal_cardiovascular_devel | 1.07069977 |
| 69 | MP0003123_paternal_imprinting | 1.07034906 |
| 70 | MP0005666_abnormal_adipose_tissue | 1.06819692 |
| 71 | MP0004233_abnormal_muscle_weight | 1.05474750 |
| 72 | MP0000467_abnormal_esophagus_morphology | 1.02898084 |
| 73 | MP0000163_abnormal_cartilage_morphology | 1.02015509 |
| 74 | MP0005330_cardiomyopathy | 1.01760010 |
| 75 | MP0009840_abnormal_foam_cell | 1.01650062 |
| 76 | MP0003091_abnormal_cell_migration | 1.00872129 |
| 77 | MP0003315_abnormal_perineum_morphology | 1.00637849 |
| 78 | MP0005076_abnormal_cell_differentiation | 0.98978639 |
| 79 | MP0004957_abnormal_blastocyst_morpholog | 0.98474747 |
| 80 | MP0004084_abnormal_cardiac_muscle | 0.96589495 |
| 81 | MP0002132_abnormal_respiratory_system | 0.95391450 |
| 82 | MP0003119_abnormal_digestive_system | 0.95320494 |
| 83 | MP0001614_abnormal_blood_vessel | 0.95278489 |
| 84 | MP0005670_abnormal_white_adipose | 0.94175687 |
| 85 | MP0008007_abnormal_cellular_replicative | 0.94027918 |
| 86 | MP0005197_abnormal_uvea_morphology | 0.93102128 |
| 87 | MP0004782_abnormal_surfactant_physiolog | 0.93038116 |
| 88 | MP0001299_abnormal_eye_distance/ | 0.92947050 |
| 89 | MP0003567_abnormal_fetal_cardiomyocyte | 0.92764044 |
| 90 | MP0002111_abnormal_tail_morphology | 0.92007204 |
| 91 | MP0003693_abnormal_embryo_hatching | 0.91816098 |
| 92 | MP0003935_abnormal_craniofacial_develop | 0.91690967 |
| 93 | MP0002086_abnormal_extraembryonic_tissu | 0.91654468 |
| 94 | MP0005451_abnormal_body_composition | 0.90501296 |
| 95 | MP0002233_abnormal_nose_morphology | 0.89948107 |
| 96 | MP0010771_integument_phenotype | 0.89254869 |
| 97 | MP0005248_abnormal_Harderian_gland | 0.88882562 |
| 98 | MP0008932_abnormal_embryonic_tissue | 0.86568287 |
| 99 | MP0010630_abnormal_cardiac_muscle | 0.86412726 |
| 100 | MP0008004_abnormal_stomach_pH | 0.86356620 |
| 101 | MP0002092_abnormal_eye_morphology | 0.86274974 |
| 102 | MP0002009_preneoplasia | 0.86198562 |
| 103 | MP0004264_abnormal_extraembryonic_tissu | 0.85862877 |
| 104 | MP0006138_congestive_heart_failure | 0.85690733 |
| 105 | MP0003984_embryonic_growth_retardation | 0.84823961 |
| 106 | MP0002085_abnormal_embryonic_tissue | 0.83673384 |
| 107 | MP0002234_abnormal_pharynx_morphology | 0.83434561 |
| 108 | MP0000462_abnormal_digestive_system | 0.83417658 |
| 109 | MP0009278_abnormal_bone_marrow | 0.83221111 |
| 110 | MP0001216_abnormal_epidermal_layer | 0.83164737 |
| 111 | MP0002088_abnormal_embryonic_growth/wei | 0.83081808 |
| 112 | MP0001672_abnormal_embryogenesis/_devel | 0.82965535 |
| 113 | MP0005380_embryogenesis_phenotype | 0.82965535 |
| 114 | MP0004197_abnormal_fetal_growth/weight/ | 0.81466042 |
| 115 | MP0002127_abnormal_cardiovascular_syste | 0.81395397 |
| 116 | MP0000627_abnormal_mammary_gland | 0.80757307 |
| 117 | MP0010678_abnormal_skin_adnexa | 0.80463055 |
| 118 | MP0000432_abnormal_head_morphology | 0.80352648 |
| 119 | MP0001730_embryonic_growth_arrest | 0.80088934 |
| 120 | MP0002896_abnormal_bone_mineralization | 0.79980066 |
| 121 | MP0001915_intracranial_hemorrhage | 0.79518827 |
| 122 | MP0002128_abnormal_blood_circulation | 0.79356487 |
| 123 | MP0001243_abnormal_dermal_layer | 0.79265481 |
| 124 | MP0005257_abnormal_intraocular_pressure | 0.78244842 |
| 125 | MP0004087_abnormal_muscle_fiber | 0.77849567 |
| 126 | MP0002084_abnormal_developmental_patter | 0.77628618 |
| 127 | MP0004883_abnormal_blood_vessel | 0.77355660 |
| 128 | MP0002877_abnormal_melanocyte_morpholog | 0.77256248 |
| 129 | MP0000477_abnormal_intestine_morphology | 0.76107427 |
| 130 | MP0000428_abnormal_craniofacial_morphol | 0.75690209 |
| 131 | MP0003111_abnormal_nucleus_morphology | 0.75055704 |
| 132 | MP0003191_abnormal_cellular_cholesterol | 0.74047944 |
| 133 | MP0003950_abnormal_plasma_membrane | 0.73972652 |
| 134 | MP0002108_abnormal_muscle_morphology | 0.73058758 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Protrusio acetabuli (HP:0003179) | 4.66240000 |
| 2 | Premature rupture of membranes (HP:0001788) | 4.40865527 |
| 3 | Right ventricular cardiomyopathy (HP:0011663) | 3.82670122 |
| 4 | Shallow orbits (HP:0000586) | 3.22789566 |
| 5 | Atrophic scars (HP:0001075) | 3.15664550 |
| 6 | Cerebral aneurysm (HP:0004944) | 3.00491859 |
| 7 | Short hallux (HP:0010109) | 2.96887380 |
| 8 | Neonatal short-limb short stature (HP:0008921) | 2.92360957 |
| 9 | Abnormality of the 2nd finger (HP:0004100) | 2.83997728 |
| 10 | Spinal rigidity (HP:0003306) | 2.80098166 |
| 11 | Distal lower limb muscle weakness (HP:0009053) | 2.76765251 |
| 12 | Increased connective tissue (HP:0009025) | 2.75924137 |
| 13 | Aortic aneurysm (HP:0004942) | 2.75869651 |
| 14 | Aortic dissection (HP:0002647) | 2.70464600 |
| 15 | Fragile skin (HP:0001030) | 2.69823408 |
| 16 | Aplasia/Hypoplasia of the hallux (HP:0008362) | 2.68772526 |
| 17 | Aplasia involving bones of the upper limbs (HP:0009823) | 2.67885422 |
| 18 | Aplasia of the phalanges of the hand (HP:0009802) | 2.67885422 |
| 19 | Aplasia involving bones of the extremities (HP:0009825) | 2.67885422 |
| 20 | Hyperacusis (HP:0010780) | 2.63962169 |
| 21 | Elbow flexion contracture (HP:0002987) | 2.53079166 |
| 22 | Distal lower limb amyotrophy (HP:0008944) | 2.51969466 |
| 23 | Abnormality of dentin (HP:0010299) | 2.46871187 |
| 24 | Trismus (HP:0000211) | 2.44695430 |
| 25 | Fragile nails (HP:0001808) | 2.43394699 |
| 26 | Cardiovascular calcification (HP:0011915) | 2.42799243 |
| 27 | Partial duplication of thumb phalanx (HP:0009944) | 2.40386182 |
| 28 | Vascular calcification (HP:0004934) | 2.40129610 |
| 29 | Ankle contracture (HP:0006466) | 2.39526828 |
| 30 | Ileus (HP:0002595) | 2.38824317 |
| 31 | Osteolytic defects of the phalanges of the hand (HP:0009771) | 2.37857302 |
| 32 | Osteolytic defects of the hand bones (HP:0009699) | 2.37857302 |
| 33 | Abnormality of the distal phalanges of the toes (HP:0010182) | 2.37248602 |
| 34 | Achilles tendon contracture (HP:0001771) | 2.36792850 |
| 35 | Abnormality of the middle phalanges of the toes (HP:0010183) | 2.35184431 |
| 36 | Abnormal umbilical cord blood vessels (HP:0011403) | 2.32761172 |
| 37 | Single umbilical artery (HP:0001195) | 2.32761172 |
| 38 | Abnormality of the fetal cardiovascular system (HP:0010948) | 2.32761172 |
| 39 | Soft skin (HP:0000977) | 2.29715845 |
| 40 | Abnormality of the 1st metacarpal (HP:0010009) | 2.29669587 |
| 41 | Ventricular tachycardia (HP:0004756) | 2.26667049 |
| 42 | Woolly hair (HP:0002224) | 2.26371273 |
| 43 | Abnormality of the distal phalanx of the thumb (HP:0009617) | 2.25892779 |
| 44 | Abnormality of the Achilles tendon (HP:0005109) | 2.24156734 |
| 45 | Renal duplication (HP:0000075) | 2.22571063 |
| 46 | Alopecia of scalp (HP:0002293) | 2.22151312 |
| 47 | Abnormality of glutamine family amino acid metabolism (HP:0010902) | 2.19425602 |
| 48 | Onycholysis (HP:0001806) | 2.18548168 |
| 49 | Absent toe (HP:0010760) | 2.17606689 |
| 50 | Abnormality of carpal bone ossification (HP:0006257) | 2.17545759 |
| 51 | Pterygium (HP:0001059) | 2.17128570 |
| 52 | Abnormal vertebral ossification (HP:0100569) | 2.16654095 |
| 53 | Down-sloping shoulders (HP:0200021) | 2.15373206 |
| 54 | Milia (HP:0001056) | 2.12422206 |
| 55 | Bronchomalacia (HP:0002780) | 2.11834995 |
| 56 | Advanced eruption of teeth (HP:0006288) | 2.11285516 |
| 57 | Broad toe (HP:0001837) | 2.08850289 |
| 58 | Acanthosis nigricans (HP:0000956) | 2.07926645 |
| 59 | Broad metatarsal (HP:0001783) | 2.06446109 |
| 60 | Wormian bones (HP:0002645) | 2.05612710 |
| 61 | Stenosis of the external auditory canal (HP:0000402) | 2.05022035 |
| 62 | Difficulty climbing stairs (HP:0003551) | 2.03839600 |
| 63 | Congenital, generalized hypertrichosis (HP:0004540) | 2.03680930 |
| 64 | Vertebral compression fractures (HP:0002953) | 2.03369265 |
| 65 | Reduced subcutaneous adipose tissue (HP:0003758) | 2.03186351 |
| 66 | Cervical subluxation (HP:0003308) | 2.02573569 |
| 67 | Blue sclerae (HP:0000592) | 2.01647378 |
| 68 | Ulnar bowing (HP:0003031) | 2.01041440 |
| 69 | Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173) | 1.99115008 |
| 70 | Arterial tortuosity (HP:0005116) | 1.98461335 |
| 71 | Abnormality of the umbilical cord (HP:0010881) | 1.96736316 |
| 72 | Pili torti (HP:0003777) | 1.96324257 |
| 73 | Peritonitis (HP:0002586) | 1.96118746 |
| 74 | Glossoptosis (HP:0000162) | 1.95946764 |
| 75 | Entropion (HP:0000621) | 1.95202576 |
| 76 | Selective tooth agenesis (HP:0001592) | 1.95179021 |
| 77 | Abnormal hemoglobin (HP:0011902) | 1.94201257 |
| 78 | Deviation of the hallux (HP:0010051) | 1.94066891 |
| 79 | Abnormality of the phalanges of the hallux (HP:0010057) | 1.92969501 |
| 80 | Overriding aorta (HP:0002623) | 1.92616348 |
| 81 | Flat acetabular roof (HP:0003180) | 1.92520169 |
| 82 | Distal upper limb amyotrophy (HP:0007149) | 1.91745172 |
| 83 | Upper limb amyotrophy (HP:0009129) | 1.91745172 |
| 84 | Follicular hyperkeratosis (HP:0007502) | 1.91667395 |
| 85 | Bladder diverticulum (HP:0000015) | 1.90913282 |
| 86 | Abnormality of the proximal phalanges of the hand (HP:0009834) | 1.90380122 |
| 87 | Fused cervical vertebrae (HP:0002949) | 1.90066057 |
| 88 | Broad face (HP:0000283) | 1.89722448 |
| 89 | Mesangial abnormality (HP:0001966) | 1.89441298 |
| 90 | Mildly elevated creatine phosphokinase (HP:0008180) | 1.89243611 |
| 91 | Broad hallux (HP:0010055) | 1.88968216 |
| 92 | Aplasia/Hypoplasia of the vertebrae (HP:0008515) | 1.88479868 |
| 93 | Vertebral hypoplasia (HP:0008417) | 1.88479868 |
| 94 | Natal tooth (HP:0000695) | 1.88376336 |
| 95 | Abnormal hair laboratory examination (HP:0003328) | 1.88254487 |
| 96 | Rough bone trabeculation (HP:0100670) | 1.87751623 |
| 97 | Coronal craniosynostosis (HP:0004440) | 1.85936613 |
| 98 | Rectal prolapse (HP:0002035) | 1.85718263 |
| 99 | Hip contracture (HP:0003273) | 1.85100023 |
| 100 | Abnormality of the calcaneus (HP:0008364) | 1.84516054 |
| 101 | Short nail (HP:0001799) | 1.84325828 |
| 102 | Dilatation of the ascending aorta (HP:0005111) | 1.83327519 |
| 103 | Sparse lateral eyebrow (HP:0005338) | 1.82898262 |
| 104 | Insomnia (HP:0100785) | 1.82844183 |
| 105 | Short middle phalanx of finger (HP:0005819) | 1.82475470 |
| 106 | Scapular winging (HP:0003691) | 1.81633170 |
| 107 | Short phalanx of the thumb (HP:0009660) | 1.81290288 |
| 108 | Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026) | 1.80941222 |
| 109 | Short 1st metacarpal (HP:0010034) | 1.80941222 |
| 110 | Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161) | 1.80259858 |
| 111 | Partial duplication of the phalanx of hand (HP:0009999) | 1.79998658 |
| 112 | Vascular tortuosity (HP:0004948) | 1.79842301 |
| 113 | Abnormal delivery (HP:0001787) | 1.78385387 |
| 114 | Hemorrhage of the eye (HP:0011885) | 1.77697480 |
| 115 | Abnormality of the acetabulum (HP:0003170) | 1.77647477 |
| 116 | Nasolacrimal duct obstruction (HP:0000579) | 1.77312145 |
| 117 | Hallux valgus (HP:0001822) | 1.77066247 |
| 118 | Deviation of the thumb (HP:0009603) | 1.77056394 |
| 119 | Arnold-Chiari malformation (HP:0002308) | 1.76562751 |
| 120 | Abnormality of the phalanges of the 2nd finger (HP:0009541) | 1.76486950 |
| 121 | Insulin resistance (HP:0000855) | 1.75663624 |
| 122 | Neonatal death (HP:0003811) | 1.75364254 |
| 123 | Bowed forearm bones (HP:0003956) | 1.75352877 |
| 124 | Bowing of the arm (HP:0006488) | 1.75352877 |
| 125 | Deep venous thrombosis (HP:0002625) | 1.75300229 |
| 126 | Biconcave vertebral bodies (HP:0004586) | 1.75109966 |
| 127 | Breast hypoplasia (HP:0003187) | 1.74951132 |
| 128 | Lower limb amyotrophy (HP:0007210) | 1.74684014 |
| 129 | Short middle phalanx of the 5th finger (HP:0004220) | 1.74155651 |
| 130 | Deformed tarsal bones (HP:0008119) | 1.73690494 |
| 131 | Short humerus (HP:0005792) | 1.73567248 |
| 132 | Esophageal varix (HP:0002040) | 1.73102383 |
| 133 | Mesomelia (HP:0003027) | 1.72985588 |
| 134 | Asymmetry of the thorax (HP:0001555) | 1.72041266 |
| 135 | Type 1 muscle fiber predominance (HP:0003803) | 1.71581287 |
| 136 | Aplasia of the musculature (HP:0100854) | 1.71315277 |
| 137 | Aneurysm (HP:0002617) | 1.71308773 |
| 138 | Aplasia/hypoplasia of the humerus (HP:0006507) | 1.71147785 |
| 139 | Shawl scrotum (HP:0000049) | 1.70690480 |
| 140 | Muscle fiber splitting (HP:0003555) | 1.70440286 |
| 141 | Midface retrusion (HP:0011800) | 1.70227195 |
| 142 | Coxa vara (HP:0002812) | 1.70031689 |
| 143 | Pulmonary artery stenosis (HP:0004415) | 1.69760301 |
| 144 | Abnormal ossification of hand bones (HP:0005921) | 1.69733869 |
| 145 | Unilateral renal agenesis (HP:0000122) | 1.69267053 |
| 146 | Preaxial foot polydactyly (HP:0001841) | 1.69229949 |
| 147 | Wrist flexion contracture (HP:0001239) | 1.69023002 |
| 148 | Short clavicles (HP:0000894) | 1.66834707 |
| 149 | Mitral regurgitation (HP:0001653) | 1.66196692 |
| 150 | Turricephaly (HP:0000262) | 1.66167148 |
| 151 | Abnormality of the nasal septum (HP:0000419) | 1.65939320 |
| 152 | Breech presentation (HP:0001623) | 1.65868663 |
| 153 | Thin bony cortex (HP:0002753) | 1.65622286 |
| 154 | Small epiphyses (HP:0010585) | 1.65508123 |
| 155 | Ankyloglossia (HP:0010296) | 1.65434587 |
| 156 | Hypoplastic toenails (HP:0001800) | 1.65169265 |
| 157 | Syringomyelia (HP:0003396) | 1.63270518 |
| 158 | Spinal cord lesions (HP:0100561) | 1.63270518 |
| 159 | Proximal placement of thumb (HP:0009623) | 1.61750469 |
| 160 | Abnormality of complement system (HP:0005339) | 1.61315487 |
| 161 | Aplasia/Hypoplasia of the clavicles (HP:0006710) | 1.60687474 |
| 162 | Abnormalities of placenta or umbilical cord (HP:0001194) | 1.60066444 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EPHB2 | 3.60630792 |
| 2 | TIE1 | 2.92251589 |
| 3 | LATS2 | 2.92020308 |
| 4 | EPHA2 | 2.71009485 |
| 5 | DDR2 | 2.61707293 |
| 6 | KDR | 2.52227142 |
| 7 | TRIB3 | 2.51803302 |
| 8 | ERN1 | 2.45857578 |
| 9 | TTN | 2.42055476 |
| 10 | TESK1 | 2.37597011 |
| 11 | MAP2K2 | 2.15949837 |
| 12 | NME2 | 2.12183004 |
| 13 | RIPK1 | 2.11861212 |
| 14 | PKN2 | 2.11775944 |
| 15 | SMG1 | 2.04525094 |
| 16 | MAP3K3 | 2.02971734 |
| 17 | ICK | 1.96616732 |
| 18 | PAK4 | 1.89168575 |
| 19 | MYLK | 1.85201390 |
| 20 | NTRK1 | 1.75860985 |
| 21 | TESK2 | 1.75423822 |
| 22 | PTK6 | 1.73590417 |
| 23 | SIK1 | 1.71793320 |
| 24 | PIM2 | 1.69836488 |
| 25 | TGFBR1 | 1.69627705 |
| 26 | FGFR4 | 1.69352326 |
| 27 | LATS1 | 1.66489132 |
| 28 | IRAK3 | 1.59930934 |
| 29 | STK38L | 1.59714167 |
| 30 | LIMK1 | 1.54903793 |
| 31 | RPS6KB2 | 1.50242339 |
| 32 | PAK2 | 1.48488453 |
| 33 | PDK2 | 1.45878614 |
| 34 | FER | 1.44873019 |
| 35 | PBK | 1.42993900 |
| 36 | LRRK2 | 1.38451060 |
| 37 | RPS6KA4 | 1.37727700 |
| 38 | PDGFRA | 1.32865882 |
| 39 | ILK | 1.31913587 |
| 40 | TGFBR2 | 1.31435179 |
| 41 | BUB1 | 1.31085175 |
| 42 | PRKG2 | 1.29514944 |
| 43 | PTK2 | 1.20134352 |
| 44 | STK10 | 1.19812059 |
| 45 | BRSK2 | 1.16075353 |
| 46 | BRSK1 | 1.15886004 |
| 47 | MOS | 1.15370549 |
| 48 | MAP2K3 | 1.13949666 |
| 49 | MET | 1.11648012 |
| 50 | ZAK | 1.10702296 |
| 51 | MAP3K8 | 1.07813264 |
| 52 | TRPM7 | 1.06635756 |
| 53 | EPHA3 | 1.06363834 |
| 54 | ABL2 | 1.05783367 |
| 55 | MAP3K10 | 1.05179197 |
| 56 | MAP3K11 | 1.02901648 |
| 57 | DMPK | 0.99590488 |
| 58 | MAP2K1 | 0.98996268 |
| 59 | LMTK2 | 0.98943105 |
| 60 | FLT3 | 0.96657100 |
| 61 | ARAF | 0.95066911 |
| 62 | SRPK1 | 0.93050774 |
| 63 | PTK2B | 0.92836801 |
| 64 | MST4 | 0.92079942 |
| 65 | MAPKAPK3 | 0.89596530 |
| 66 | MST1R | 0.89269794 |
| 67 | BCKDK | 0.88518309 |
| 68 | MELK | 0.87415475 |
| 69 | AURKB | 0.87279975 |
| 70 | CDK6 | 0.86319767 |
| 71 | PAK1 | 0.83720222 |
| 72 | SCYL2 | 0.83313268 |
| 73 | TAOK2 | 0.78234100 |
| 74 | PIK3CA | 0.77388386 |
| 75 | NEK2 | 0.74822538 |
| 76 | CDK12 | 0.74270864 |
| 77 | CDK7 | 0.70323979 |
| 78 | ROCK1 | 0.67300506 |
| 79 | FGFR1 | 0.66380875 |
| 80 | FRK | 0.65585711 |
| 81 | PRKCI | 0.64143190 |
| 82 | WEE1 | 0.64027209 |
| 83 | DYRK1B | 0.63706987 |
| 84 | AKT3 | 0.63639973 |
| 85 | DAPK3 | 0.63400616 |
| 86 | TTK | 0.61491996 |
| 87 | STK3 | 0.58679713 |
| 88 | BMX | 0.58592749 |
| 89 | ROCK2 | 0.57812060 |
| 90 | MAP3K12 | 0.56847827 |
| 91 | TAOK1 | 0.56719829 |
| 92 | MAP3K6 | 0.54968359 |
| 93 | MAPKAPK2 | 0.53597295 |
| 94 | ERBB3 | 0.53057668 |
| 95 | NUAK1 | 0.52934801 |
| 96 | MAPK11 | 0.52718318 |
| 97 | MTOR | 0.51301460 |
| 98 | VRK2 | 0.51175404 |
| 99 | PAK3 | 0.50268430 |
| 100 | MKNK1 | 0.50238672 |
| 101 | NEK1 | 0.50187081 |
| 102 | GRK1 | 0.49808568 |
| 103 | PRKD1 | 0.49692597 |
| 104 | NEK9 | 0.49012737 |
| 105 | ERBB4 | 0.48489546 |
| 106 | HIPK2 | 0.48141263 |
| 107 | STK39 | 0.48033595 |
| 108 | BRAF | 0.47629769 |
| 109 | CDK8 | 0.46449992 |
| 110 | MAPK15 | 0.45691926 |
| 111 | NME1 | 0.45144884 |
| 112 | DYRK3 | 0.44928096 |
| 113 | EPHB1 | 0.43586093 |
| 114 | PDPK1 | 0.42898494 |
| 115 | AKT2 | 0.42560834 |
| 116 | CAMK2G | 0.41101862 |
| 117 | PLK1 | 0.40659089 |
| 118 | ERBB2 | 0.40463777 |
| 119 | AURKA | 0.39225133 |
| 120 | TLK1 | 0.39193800 |
| 121 | PIM1 | 0.39188433 |
| 122 | NEK6 | 0.38442060 |
| 123 | RPS6KA2 | 0.37847465 |
| 124 | WNK4 | 0.37718704 |
| 125 | PDGFRB | 0.36168081 |
| 126 | EEF2K | 0.35929011 |
| 127 | CDK9 | 0.33828789 |
| 128 | STK4 | 0.31988251 |
| 129 | MAP3K2 | 0.31511099 |
| 130 | GSK3A | 0.31167614 |
| 131 | PRKD2 | 0.29285751 |
| 132 | PIK3CG | 0.29096936 |
| 133 | ALK | 0.28328635 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Ribosome_Homo sapiens_hsa03010 | 3.48023485 |
| 2 | ECM-receptor interaction_Homo sapiens_hsa04512 | 2.61054011 |
| 3 | Bladder cancer_Homo sapiens_hsa05219 | 2.44056824 |
| 4 | Adherens junction_Homo sapiens_hsa04520 | 2.42933483 |
| 5 | Arginine biosynthesis_Homo sapiens_hsa00220 | 2.28982036 |
| 6 | Basal cell carcinoma_Homo sapiens_hsa05217 | 2.23069946 |
| 7 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 2.19825610 |
| 8 | * Hippo signaling pathway_Homo sapiens_hsa04390 | 2.15033767 |
| 9 | * TGF-beta signaling pathway_Homo sapiens_hsa04350 | 2.12108973 |
| 10 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 2.07388047 |
| 11 | Tight junction_Homo sapiens_hsa04530 | 2.06170686 |
| 12 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 2.05363759 |
| 13 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.99140118 |
| 14 | Focal adhesion_Homo sapiens_hsa04510 | 1.98140934 |
| 15 | Sulfur metabolism_Homo sapiens_hsa00920 | 1.97209115 |
| 16 | Small cell lung cancer_Homo sapiens_hsa05222 | 1.93613177 |
| 17 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 1.79469909 |
| 18 | p53 signaling pathway_Homo sapiens_hsa04115 | 1.76490184 |
| 19 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 1.71729379 |
| 20 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 1.69692050 |
| 21 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 1.65278828 |
| 22 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 1.62662845 |
| 23 | Other glycan degradation_Homo sapiens_hsa00511 | 1.61118652 |
| 24 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 1.59380030 |
| 25 | Thyroid cancer_Homo sapiens_hsa05216 | 1.57988475 |
| 26 | * Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 1.57886550 |
| 27 | Sulfur relay system_Homo sapiens_hsa04122 | 1.53352516 |
| 28 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 1.52865180 |
| 29 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 1.49340527 |
| 30 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.49039360 |
| 31 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.48915216 |
| 32 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.48527259 |
| 33 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 1.46761299 |
| 34 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.45688839 |
| 35 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 1.42833865 |
| 36 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 1.37757757 |
| 37 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.31505676 |
| 38 | Cell cycle_Homo sapiens_hsa04110 | 1.26789726 |
| 39 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.22565178 |
| 40 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 1.21045143 |
| 41 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 1.19830294 |
| 42 | Amoebiasis_Homo sapiens_hsa05146 | 1.19674462 |
| 43 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 1.17552946 |
| 44 | Spliceosome_Homo sapiens_hsa03040 | 1.15705910 |
| 45 | Notch signaling pathway_Homo sapiens_hsa04330 | 1.15343342 |
| 46 | Mineral absorption_Homo sapiens_hsa04978 | 1.14199877 |
| 47 | Folate biosynthesis_Homo sapiens_hsa00790 | 1.13699802 |
| 48 | Tyrosine metabolism_Homo sapiens_hsa00350 | 1.10211457 |
| 49 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 1.09040425 |
| 50 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 1.07384122 |
| 51 | Pathways in cancer_Homo sapiens_hsa05200 | 1.06955858 |
| 52 | Melanoma_Homo sapiens_hsa05218 | 1.06199244 |
| 53 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 1.05887417 |
| 54 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 1.02802564 |
| 55 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.01835334 |
| 56 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 1.01813238 |
| 57 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.01634041 |
| 58 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.01329929 |
| 59 | HTLV-I infection_Homo sapiens_hsa05166 | 1.00921227 |
| 60 | DNA replication_Homo sapiens_hsa03030 | 1.00177306 |
| 61 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 1.00041031 |
| 62 | Histidine metabolism_Homo sapiens_hsa00340 | 0.94965601 |
| 63 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.93204430 |
| 64 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.92882371 |
| 65 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.91449268 |
| 66 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.91154855 |
| 67 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.90492050 |
| 68 | RNA transport_Homo sapiens_hsa03013 | 0.90286454 |
| 69 | Prostate cancer_Homo sapiens_hsa05215 | 0.87147434 |
| 70 | Proteasome_Homo sapiens_hsa03050 | 0.86707638 |
| 71 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.83681329 |
| 72 | Bile secretion_Homo sapiens_hsa04976 | 0.83317244 |
| 73 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 0.82761577 |
| 74 | Galactose metabolism_Homo sapiens_hsa00052 | 0.79970542 |
| 75 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.79737060 |
| 76 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.78794646 |
| 77 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.77741770 |
| 78 | Prion diseases_Homo sapiens_hsa05020 | 0.76793786 |
| 79 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.76326154 |
| 80 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.76258891 |
| 81 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.75883726 |
| 82 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.75838062 |
| 83 | Mismatch repair_Homo sapiens_hsa03430 | 0.75585545 |
| 84 | Retinol metabolism_Homo sapiens_hsa00830 | 0.75000897 |
| 85 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.74633677 |
| 86 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.72613996 |
| 87 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.71988549 |
| 88 | Apoptosis_Homo sapiens_hsa04210 | 0.71846288 |
| 89 | * Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.70502687 |
| 90 | Viral myocarditis_Homo sapiens_hsa05416 | 0.69836576 |
| 91 | TNF signaling pathway_Homo sapiens_hsa04668 | 0.69833369 |
| 92 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.69623973 |
| 93 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.64296999 |
| 94 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 0.63951838 |
| 95 | Shigellosis_Homo sapiens_hsa05131 | 0.62973473 |
| 96 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.62913789 |
| 97 | RNA polymerase_Homo sapiens_hsa03020 | 0.62137750 |
| 98 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.62130431 |
| 99 | Axon guidance_Homo sapiens_hsa04360 | 0.61575813 |
| 100 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.61243013 |
| 101 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.60191259 |
| 102 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.59976525 |
| 103 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.59884906 |
| 104 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.59419908 |
| 105 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.59225363 |
| 106 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 0.58377612 |
| 107 | Alcoholism_Homo sapiens_hsa05034 | 0.58259990 |
| 108 | Melanogenesis_Homo sapiens_hsa04916 | 0.57741789 |
| 109 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.57731331 |
| 110 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.56206259 |
| 111 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.56062570 |
| 112 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.55281714 |
| 113 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.54339366 |
| 114 | Base excision repair_Homo sapiens_hsa03410 | 0.54254941 |
| 115 | Lysine degradation_Homo sapiens_hsa00310 | 0.53732754 |
| 116 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.53212072 |
| 117 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.51430768 |
| 118 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.50017039 |
| 119 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.49891966 |
| 120 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.48465825 |
| 121 | Carbon metabolism_Homo sapiens_hsa01200 | 0.47956342 |
| 122 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.47633879 |
| 123 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.47286800 |
| 124 | Huntingtons disease_Homo sapiens_hsa05016 | 0.46757287 |
| 125 | Malaria_Homo sapiens_hsa05144 | 0.46692485 |
| 126 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.46064475 |
| 127 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.45148142 |
| 128 | Salmonella infection_Homo sapiens_hsa05132 | 0.44575420 |
| 129 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.44038508 |
| 130 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.42810662 |
| 131 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.42718740 |
| 132 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.41687726 |
| 133 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.41604801 |
| 134 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.40094248 |
| 135 | Legionellosis_Homo sapiens_hsa05134 | 0.37916392 |
| 136 | Parkinsons disease_Homo sapiens_hsa05012 | 0.37515675 |
| 137 | Endometrial cancer_Homo sapiens_hsa05213 | 0.37510815 |
| 138 | Colorectal cancer_Homo sapiens_hsa05210 | 0.36849014 |
| 139 | Homologous recombination_Homo sapiens_hsa03440 | 0.36577957 |
| 140 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.34288041 |
| 141 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.34077687 |
| 142 | Hepatitis C_Homo sapiens_hsa05160 | 0.34046229 |
| 143 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.32809218 |
| 144 | RNA degradation_Homo sapiens_hsa03018 | 0.31536380 |

