

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | desmosome organization (GO:0002934) | 7.70374425 |
| 2 | bundle of His cell to Purkinje myocyte communication (GO:0086069) | 6.27095995 |
| 3 | hemidesmosome assembly (GO:0031581) | 6.14842508 |
| 4 | plasma membrane repair (GO:0001778) | 5.64666360 |
| 5 | sarcomere organization (GO:0045214) | 5.01476735 |
| 6 | actin-myosin filament sliding (GO:0033275) | 5.00823273 |
| 7 | muscle filament sliding (GO:0030049) | 5.00823273 |
| 8 | regulation of gene silencing by RNA (GO:0060966) | 4.95486865 |
| 9 | regulation of posttranscriptional gene silencing (GO:0060147) | 4.95486865 |
| 10 | regulation of gene silencing by miRNA (GO:0060964) | 4.95486865 |
| 11 | epithelial cell-cell adhesion (GO:0090136) | 4.57751615 |
| 12 | COPI coating of Golgi vesicle (GO:0048205) | 4.45986835 |
| 13 | Golgi transport vesicle coating (GO:0048200) | 4.45986835 |
| 14 | regulation of water loss via skin (GO:0033561) | 4.29355146 |
| 15 | keratinization (GO:0031424) | 4.22165493 |
| 16 | actin-mediated cell contraction (GO:0070252) | 4.21675293 |
| 17 | negative regulation of potassium ion transmembrane transporter activity (GO:1901017) | 4.11615196 |
| 18 | establishment of skin barrier (GO:0061436) | 4.05813308 |
| 19 | cell-substrate junction assembly (GO:0007044) | 4.03946880 |
| 20 | establishment of apical/basal cell polarity (GO:0035089) | 4.00505721 |
| 21 | regulation of skeletal muscle contraction (GO:0014819) | 4.00034026 |
| 22 | paraxial mesoderm development (GO:0048339) | 3.87248434 |
| 23 | hair cycle (GO:0042633) | 3.86116292 |
| 24 | molting cycle (GO:0042303) | 3.86116292 |
| 25 | regulation of hippo signaling (GO:0035330) | 3.83461311 |
| 26 | establishment or maintenance of monopolar cell polarity (GO:0061339) | 3.82555822 |
| 27 | establishment of monopolar cell polarity (GO:0061162) | 3.82555822 |
| 28 | regulation of cardioblast differentiation (GO:0051890) | 3.78228813 |
| 29 | apoptotic process involved in morphogenesis (GO:0060561) | 3.76183704 |
| 30 | ventricular cardiac muscle cell action potential (GO:0086005) | 3.71825104 |
| 31 | polarized epithelial cell differentiation (GO:0030859) | 3.70707427 |
| 32 | endothelial cell chemotaxis (GO:0035767) | 3.70131482 |
| 33 | cardiac myofibril assembly (GO:0055003) | 3.69880222 |
| 34 | regulation of SMAD protein import into nucleus (GO:0060390) | 3.64827263 |
| 35 | regulation of branching involved in prostate gland morphogenesis (GO:0060687) | 3.64734310 |
| 36 | positive regulation of SMAD protein import into nucleus (GO:0060391) | 3.60710217 |
| 37 | cardiac muscle cell development (GO:0055013) | 3.55087746 |
| 38 | negative regulation of potassium ion transmembrane transport (GO:1901380) | 3.52776568 |
| 39 | atrioventricular valve morphogenesis (GO:0003181) | 3.52253546 |
| 40 | dichotomous subdivision of an epithelial terminal unit (GO:0060600) | 3.50461130 |
| 41 | ventricular cardiac muscle tissue morphogenesis (GO:0055010) | 3.49100266 |
| 42 | intermediate filament organization (GO:0045109) | 3.47958453 |
| 43 | regulation of establishment of planar polarity involved in neural tube closure (GO:0090178) | 3.46799057 |
| 44 | protein retention in ER lumen (GO:0006621) | 3.46271552 |
| 45 | ear development (GO:0043583) | 3.44422533 |
| 46 | regulation of Wnt signaling pathway involved in heart development (GO:0003307) | 3.43285187 |
| 47 | cardiac cell development (GO:0055006) | 3.41951901 |
| 48 | myofibril assembly (GO:0030239) | 3.38796321 |
| 49 | retrograde vesicle-mediated transport, Golgi to ER (GO:0006890) | 3.34437674 |
| 50 | cardiac muscle tissue morphogenesis (GO:0055008) | 3.34151113 |
| 51 | maintenance of protein localization in endoplasmic reticulum (GO:0035437) | 3.32117465 |
| 52 | regulation of tight junction assembly (GO:2000810) | 3.29958049 |
| 53 | semaphorin-plexin signaling pathway (GO:0071526) | 3.29780615 |
| 54 | regulation of cell proliferation involved in kidney development (GO:1901722) | 3.28228802 |
| 55 | positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316) | 3.27619255 |
| 56 | peptide cross-linking (GO:0018149) | 3.26519029 |
| 57 | actomyosin structure organization (GO:0031032) | 3.25910837 |
| 58 | maternal placenta development (GO:0001893) | 3.22898201 |
| 59 | regulation of vascular endothelial growth factor signaling pathway (GO:1900746) | 3.22452318 |
| 60 | keratinocyte differentiation (GO:0030216) | 3.18329546 |
| 61 | actin filament-based movement (GO:0030048) | 3.13335493 |
| 62 | regulation of translational termination (GO:0006449) | 3.12802304 |
| 63 | muscle tissue morphogenesis (GO:0060415) | 3.10902930 |
| 64 | negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067) | 3.09201759 |
| 65 | gap junction assembly (GO:0016264) | 3.08642962 |
| 66 | regulation of apoptotic process involved in morphogenesis (GO:1902337) | 3.06928734 |
| 67 | intestinal epithelial cell development (GO:0060576) | 3.06031169 |
| 68 | anterior/posterior axis specification, embryo (GO:0008595) | 3.01329648 |
| 69 | wound healing, spreading of epidermal cells (GO:0035313) | 3.01225037 |
| 70 | positive regulation of keratinocyte differentiation (GO:0045618) | 2.98420501 |
| 71 | mammary gland epithelial cell differentiation (GO:0060644) | 2.97313849 |
| 72 | multicellular organismal water homeostasis (GO:0050891) | 2.96796480 |
| 73 | trophectodermal cell differentiation (GO:0001829) | 2.95631414 |
| 74 | adherens junction assembly (GO:0034333) | 2.94263384 |
| 75 | interferon-gamma secretion (GO:0072643) | 2.93661043 |
| 76 | basement membrane organization (GO:0071711) | 2.92933697 |
| 77 | regulation of mammary gland epithelial cell proliferation (GO:0033599) | 2.92608058 |
| 78 | cell-substrate adherens junction assembly (GO:0007045) | 2.92488916 |
| 79 | focal adhesion assembly (GO:0048041) | 2.92488916 |
| 80 | proline biosynthetic process (GO:0006561) | 2.91158580 |
| 81 | regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547) | 2.90519166 |
| 82 | cardiac muscle contraction (GO:0060048) | 2.90439487 |
| 83 | positive regulation of Cdc42 GTPase activity (GO:0043089) | 2.87023634 |
| 84 | heart valve morphogenesis (GO:0003179) | 2.86705820 |
| 85 | positive regulation of epidermal cell differentiation (GO:0045606) | 2.86104320 |
| 86 | epithelial cell differentiation involved in prostate gland development (GO:0060742) | 2.84191217 |
| 87 | maturation of SSU-rRNA (GO:0030490) | 2.82412424 |
| 88 | viral transcription (GO:0019083) | 2.81998313 |
| 89 | cardiac right ventricle morphogenesis (GO:0003215) | 2.81596548 |
| 90 | regulation of transcription from RNA polymerase II promoter involved in heart development (GO:190121 | 2.80552432 |
| 91 | negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471) | 2.79312820 |
| 92 | heart trabecula formation (GO:0060347) | 2.78155213 |
| 93 | NADH metabolic process (GO:0006734) | 2.77655229 |
| 94 | regulation of translational fidelity (GO:0006450) | 2.76967097 |
| 95 | apoptotic process involved in development (GO:1902742) | 2.75669925 |
| 96 | translational termination (GO:0006415) | 2.73901551 |
| 97 | branching involved in mammary gland duct morphogenesis (GO:0060444) | 2.73104473 |
| 98 | cell communication involved in cardiac conduction (GO:0086065) | 2.72866296 |
| 99 | protein maturation by protein folding (GO:0022417) | 2.71432072 |
| 100 | notochord development (GO:0030903) | 2.71187971 |
| 101 | cytoskeletal anchoring at plasma membrane (GO:0007016) | 2.68751245 |
| 102 | formation of translation preinitiation complex (GO:0001731) | 2.68460220 |
| 103 | outflow tract septum morphogenesis (GO:0003148) | 2.68367026 |
| 104 | negative regulation of kidney development (GO:0090185) | 2.66544483 |
| 105 | response to water (GO:0009415) | 2.66511269 |
| 106 | skin morphogenesis (GO:0043589) | 2.64532091 |
| 107 | ectoderm development (GO:0007398) | 2.63715206 |
| 108 | branching involved in salivary gland morphogenesis (GO:0060445) | 2.63155585 |
| 109 | membrane budding (GO:0006900) | 2.62298578 |
| 110 | surfactant homeostasis (GO:0043129) | 2.62088580 |
| 111 | Wnt signaling pathway, planar cell polarity pathway (GO:0060071) | 2.61163895 |
| 112 | positive regulation of epidermis development (GO:0045684) | 2.60765274 |
| 113 | protein localization to endosome (GO:0036010) | 2.60498720 |
| 114 | ribosomal small subunit biogenesis (GO:0042274) | 2.59389525 |
| 115 | mitotic nuclear envelope reassembly (GO:0007084) | 2.59031731 |
| 116 | nuclear envelope reassembly (GO:0031468) | 2.59031731 |
| 117 | translational elongation (GO:0006414) | 2.58795904 |
| 118 | striated muscle contraction (GO:0006941) | 2.55483262 |
| 119 | negative regulation of striated muscle cell apoptotic process (GO:0010664) | 2.54686691 |
| 120 | pentose-phosphate shunt (GO:0006098) | 2.54093681 |
| 121 | epidermal cell differentiation (GO:0009913) | 2.53629088 |
| 122 | negative regulation of cell fate specification (GO:0009996) | 2.53533798 |
| 123 | norepinephrine metabolic process (GO:0042415) | 2.52763875 |
| 124 | planar cell polarity pathway involved in neural tube closure (GO:0090179) | 2.52709017 |
| 125 | regulation of glucose import in response to insulin stimulus (GO:2001273) | 2.52610613 |
| 126 | ventricular cardiac muscle cell development (GO:0055015) | 2.52514493 |
| 127 | carnitine shuttle (GO:0006853) | 2.51935648 |
| 128 | muscle organ morphogenesis (GO:0048644) | 2.51415979 |
| 129 | negative regulation of cell size (GO:0045792) | 2.49976830 |
| 130 | endoplasmic reticulum calcium ion homeostasis (GO:0032469) | 2.49445321 |
| 131 | skeletal muscle contraction (GO:0003009) | 2.48653920 |
| 132 | cell proliferation involved in metanephros development (GO:0072203) | 2.48651039 |
| 133 | trabecula morphogenesis (GO:0061383) | 2.48277844 |
| 134 | amyloid precursor protein catabolic process (GO:0042987) | 2.47667607 |
| 135 | adherens junction organization (GO:0034332) | 2.47501354 |
| 136 | cardiac muscle cell action potential involved in contraction (GO:0086002) | 2.47140528 |
| 137 | glucose catabolic process (GO:0006007) | 2.45515464 |
| 138 | regulation of the force of heart contraction (GO:0002026) | 2.45339519 |
| 139 | negative regulation of fatty acid transport (GO:2000192) | 2.45041891 |
| 140 | regulation of early endosome to late endosome transport (GO:2000641) | 2.44809454 |
| 141 | response to stimulus involved in regulation of muscle adaptation (GO:0014874) | 2.44646805 |
| 142 | tricarboxylic acid cycle (GO:0006099) | 2.44317493 |
| 143 | nodal signaling pathway (GO:0038092) | 2.43180541 |
| 144 | regulation of fatty acid beta-oxidation (GO:0031998) | 2.43156007 |
| 145 | regulation of hair follicle development (GO:0051797) | 2.42987827 |
| 146 | mesonephros development (GO:0001823) | 2.42830780 |
| 147 | positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:00360 | 2.42454217 |
| 148 | regulation of establishment of planar polarity (GO:0090175) | 2.41608590 |
| 149 | oxidative phosphorylation (GO:0006119) | 2.41489345 |
| 150 | renal filtration (GO:0097205) | 2.41346022 |
| 151 | regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307) | 2.40636603 |
| 152 | embryo implantation (GO:0007566) | 2.40218743 |
| 153 | barbed-end actin filament capping (GO:0051016) | 2.39972745 |
| 154 | regulation of p38MAPK cascade (GO:1900744) | 2.39619012 |
| 155 | translational initiation (GO:0006413) | 2.39268145 |
| 156 | regulation of protein localization to cell surface (GO:2000008) | 2.39190147 |
| 157 | striated muscle cell development (GO:0055002) | 2.39155220 |
| 158 | cardiac muscle cell action potential (GO:0086001) | 2.39020094 |
| 159 | embryonic process involved in female pregnancy (GO:0060136) | 2.38716628 |
| 160 | negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037) | 2.38562023 |
| 161 | negative regulation of chondrocyte differentiation (GO:0032331) | 2.37842213 |
| 162 | water homeostasis (GO:0030104) | 2.37408538 |
| 163 | negative regulation of adherens junction organization (GO:1903392) | 2.36949968 |
| 164 | negative regulation of focal adhesion assembly (GO:0051895) | 2.36949968 |
| 165 | negative regulation of cell junction assembly (GO:1901889) | 2.36949968 |
| 166 | activation of Rac GTPase activity (GO:0032863) | 2.36824974 |
| 167 | cell-cell junction maintenance (GO:0045217) | 2.35760489 |
| 168 | negative regulation of embryonic development (GO:0045992) | 2.35264038 |
| 169 | positive regulation of receptor recycling (GO:0001921) | 2.33249985 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 7.97323791 |
| 2 | KLF2_18264089_ChIP-ChIP_MESCs_Mouse | 3.58614692 |
| 3 | KLF5_18264089_ChIP-ChIP_MESCs_Mouse | 3.58614692 |
| 4 | KLF4_18264089_ChIP-ChIP_MESCs_Mouse | 3.58614692 |
| 5 | * NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 3.10115801 |
| 6 | * POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 2.93538369 |
| 7 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 2.90514036 |
| 8 | ZNF263_19887448_ChIP-Seq_K562_Human | 2.83251872 |
| 9 | SMAD1_18555785_ChIP-Seq_MESCs_Mouse | 2.69439076 |
| 10 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 2.67810589 |
| 11 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 2.54723666 |
| 12 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 2.38166271 |
| 13 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 2.34765131 |
| 14 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 2.33377505 |
| 15 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 2.32719710 |
| 16 | SMAD3_22036565_ChIP-Seq_ESCs_Mouse | 2.30063462 |
| 17 | TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 2.29535067 |
| 18 | * TCF3_18692474_ChIP-Seq_MEFs_Mouse | 2.26635805 |
| 19 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 2.23624163 |
| 20 | NACC1_18358816_ChIP-ChIP_MESCs_Mouse | 2.17339552 |
| 21 | ZIC3_20872845_ChIP-ChIP_MESCs_Mouse | 2.15270213 |
| 22 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 2.14919034 |
| 23 | KLF4_18358816_ChIP-ChIP_MESCs_Mouse | 2.12626019 |
| 24 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 2.11894859 |
| 25 | NR0B1_18358816_ChIP-ChIP_MESCs_Mouse | 2.07474899 |
| 26 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 2.07204375 |
| 27 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 2.01104901 |
| 28 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 1.99347723 |
| 29 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 1.97205791 |
| 30 | ERG_21242973_ChIP-ChIP_JURKAT_Human | 1.91247775 |
| 31 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 1.89524911 |
| 32 | ZFP281_18358816_ChIP-ChIP_MESCs_Mouse | 1.89140035 |
| 33 | SOX2_18358816_ChIP-ChIP_MESCs_Mouse | 1.85812137 |
| 34 | NANOG_18555785_ChIP-Seq_MESCs_Mouse | 1.81133051 |
| 35 | * ATF3_27146783_Chip-Seq_COLON_Human | 1.76435749 |
| 36 | * KDM2B_26808549_Chip-Seq_SUP-B15_Human | 1.71858422 |
| 37 | * NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 1.70635073 |
| 38 | * TCF3_18692474_ChIP-Seq_MESCs_Mouse | 1.69338178 |
| 39 | * SOX2_18692474_ChIP-Seq_MEFs_Mouse | 1.67149298 |
| 40 | CLOCK_20551151_ChIP-Seq_293T_Human | 1.66490234 |
| 41 | NANOG_18692474_ChIP-Seq_MEFs_Mouse | 1.64153282 |
| 42 | VDR_21846776_ChIP-Seq_THP-1_Human | 1.62827518 |
| 43 | E2F7_22180533_ChIP-Seq_HELA_Human | 1.62238862 |
| 44 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 1.59311626 |
| 45 | * KDM2B_26808549_Chip-Seq_SIL-ALL_Human | 1.56662712 |
| 46 | SRY_22984422_ChIP-ChIP_TESTIS_Rat | 1.55184600 |
| 47 | * ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.50860184 |
| 48 | SALL4_18804426_ChIP-ChIP_MESCs_Mouse | 1.49503168 |
| 49 | * RACK7_27058665_Chip-Seq_MCF-7_Human | 1.48136766 |
| 50 | KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.47357749 |
| 51 | P68_20966046_ChIP-Seq_HELA_Human | 1.47316550 |
| 52 | P63_26484246_Chip-Seq_KERATINOCYTES_Human | 1.46748893 |
| 53 | * KDM2B_26808549_Chip-Seq_DND41_Human | 1.46344277 |
| 54 | NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human | 1.46115505 |
| 55 | * ELK3_25401928_ChIP-Seq_HUVEC_Human | 1.45439653 |
| 56 | * OCT4_18692474_ChIP-Seq_MEFs_Mouse | 1.44461204 |
| 57 | SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 1.44358770 |
| 58 | * SMAD3_18955504_ChIP-ChIP_HaCaT_Human | 1.42622190 |
| 59 | * SMAD2_18955504_ChIP-ChIP_HaCaT_Human | 1.42622190 |
| 60 | * KDM2B_26808549_Chip-Seq_K562_Human | 1.42256538 |
| 61 | * ZFP281_18757296_ChIP-ChIP_E14_Mouse | 1.41264817 |
| 62 | POU5F1_18358816_ChIP-ChIP_MESCs_Mouse | 1.41218027 |
| 63 | SOX2_18555785_ChIP-Seq_MESCs_Mouse | 1.41128533 |
| 64 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.39830282 |
| 65 | RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 1.39805814 |
| 66 | EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.38158062 |
| 67 | DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 1.37652298 |
| 68 | * NANOG_18347094_ChIP-ChIP_MESCs_Mouse | 1.37234160 |
| 69 | * ATF3_23680149_ChIP-Seq_GBM1-GSC_Human | 1.36860767 |
| 70 | * SA1_27219007_Chip-Seq_ERYTHROID_Human | 1.36781317 |
| 71 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 1.36327209 |
| 72 | TCF7_22412390_ChIP-Seq_EML_Mouse | 1.33278687 |
| 73 | * MYC_19030024_ChIP-ChIP_MESCs_Mouse | 1.33037743 |
| 74 | SOX9_24532713_ChIP-Seq_HFSC_Mouse | 1.32576248 |
| 75 | * EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human | 1.32296260 |
| 76 | SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 1.32042909 |
| 77 | * SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 1.31692080 |
| 78 | WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 1.31479513 |
| 79 | CREB1_26743006_Chip-Seq_LNCaP_Human | 1.30360343 |
| 80 | * KLF4_18555785_ChIP-Seq_MESCs_Mouse | 1.29830072 |
| 81 | * HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 1.29676014 |
| 82 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.28960237 |
| 83 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.27659729 |
| 84 | ESR1_15608294_ChIP-ChIP_MCF-7_Human | 1.25001451 |
| 85 | CTCF_27219007_Chip-Seq_ERYTHROID_Human | 1.24890872 |
| 86 | POU5F1_16518401_ChIP-PET_MESCs_Mouse | 1.24413453 |
| 87 | NANOG_18692474_ChIP-Seq_MESCs_Mouse | 1.24410510 |
| 88 | * TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.24061774 |
| 89 | * TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 1.18936888 |
| 90 | * SOX2_18692474_ChIP-Seq_MESCs_Mouse | 1.18641580 |
| 91 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 1.18090822 |
| 92 | CEBPB_24764292_ChIP-Seq_MC3T3_Mouse | 1.17619045 |
| 93 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.17615422 |
| 94 | KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.17464229 |
| 95 | E2F1_18555785_ChIP-Seq_MESCs_Mouse | 1.16980459 |
| 96 | DNAJC2_21179169_ChIP-ChIP_NT2_Human | 1.16892212 |
| 97 | KLF4_19030024_ChIP-ChIP_MESCs_Mouse | 1.16841708 |
| 98 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 1.15697954 |
| 99 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 1.15639311 |
| 100 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.15165374 |
| 101 | ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 1.12455176 |
| 102 | * PRDM14_21183938_ChIP-Seq_MESCs_Mouse | 1.12343584 |
| 103 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 1.11720690 |
| 104 | PPARA_22158963_ChIP-Seq_LIVER_Mouse | 1.10861133 |
| 105 | SMC3_22415368_ChIP-Seq_MEFs_Mouse | 1.09226147 |
| 106 | TBX20_22328084_ChIP-Seq_HEART_Mouse | 1.09051126 |
| 107 | TBX20_22080862_ChIP-Seq_HEART_Mouse | 1.09051126 |
| 108 | NANOG_18358816_ChIP-ChIP_MESCs_Mouse | 1.08979501 |
| 109 | * FOXO3_23340844_ChIP-Seq_DLD1_Human | 1.08751595 |
| 110 | MYC_22102868_ChIP-Seq_BL_Human | 1.08376801 |
| 111 | * EOMES_20176728_ChIP-ChIP_TSCs_Mouse | 1.07276075 |
| 112 | * SETDB1_19884255_ChIP-Seq_MESCs_Mouse | 1.05859864 |
| 113 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.05772426 |
| 114 | * UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 1.05740628 |
| 115 | TP53_22127205_ChIP-Seq_IMR90_Human | 1.04516624 |
| 116 | RXR_22158963_ChIP-Seq_LIVER_Mouse | 1.02034659 |
| 117 | * RUNX1_27514584_Chip-Seq_MCF-7_Human | 1.01637373 |
| 118 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 1.00987998 |
| 119 | SREBP2_21459322_ChIP-Seq_LIVER_Mouse | 1.00855216 |
| 120 | * TCF3_18347094_ChIP-ChIP_MESCs_Mouse | 1.00301753 |
| 121 | TET1_21490601_ChIP-Seq_MESCs_Mouse | 0.99845491 |
| 122 | SMC1_22415368_ChIP-Seq_MEFs_Mouse | 0.98193617 |
| 123 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 0.96604214 |
| 124 | XRN2_22483619_ChIP-Seq_HELA_Human | 0.96413395 |
| 125 | STAT3_19079543_ChIP-ChIP_MESCs_Mouse | 0.95564869 |
| 126 | * POU5F1_18692474_ChIP-Seq_MESCs_Mouse | 0.95342858 |
| 127 | LXR_22292898_ChIP-Seq_THP-1_Human | 0.94173317 |
| 128 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 0.93568111 |
| 129 | CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human | 0.93197735 |
| 130 | CTCF_26484167_Chip-Seq_Bcells_Mouse | 0.93046350 |
| 131 | GATA3_24758297_ChIP-Seq_MCF-7_Human | 0.92970676 |
| 132 | CTCF_18555785_ChIP-Seq_MESCs_Mouse | 0.92952625 |
| 133 | UBF1/2_26484160_Chip-Seq_HMECs_Human | 0.92694836 |
| 134 | CREB1_26743006_Chip-Seq_LNCaP-abl_Human | 0.92386753 |
| 135 | BCOR_27268052_Chip-Seq_Bcells_Human | 0.92070898 |
| 136 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 0.91001354 |
| 137 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 0.90445411 |
| 138 | SREBP1_19666523_ChIP-Seq_LIVER_Mouse | 0.90142561 |
| 139 | RARB_24833708_ChIP-Seq_LIVER_Mouse | 0.89892865 |
| 140 | GATA6_25053715_ChIP-Seq_YYC3_Human | 0.89767762 |
| 141 | MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human | 0.89045459 |
| 142 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 0.87912529 |
| 143 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 0.87699735 |
| 144 | * TP63_22573176_ChIP-Seq_HFKS_Human | 0.87189150 |
| 145 | ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.86606180 |
| 146 | * KAP1_27257070_Chip-Seq_ESCs_Mouse | 0.86162677 |
| 147 | ELK1_22589737_ChIP-Seq_MCF10A_Human | 0.85398155 |
| 148 | P300_27058665_Chip-Seq_ZR-75-30cells_Human | 0.84927645 |
| 149 | TP53_20018659_ChIP-ChIP_R1E_Mouse | 0.84067574 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003941_abnormal_skin_development | 3.89286953 |
| 2 | MP0002796_impaired_skin_barrier | 3.77852295 |
| 3 | MP0005275_abnormal_skin_tensile | 3.61519005 |
| 4 | MP0004084_abnormal_cardiac_muscle | 3.32728827 |
| 5 | MP0003705_abnormal_hypodermis_morpholog | 3.25235797 |
| 6 | MP0003566_abnormal_cell_adhesion | 2.90090472 |
| 7 | MP0000751_myopathy | 2.68450619 |
| 8 | MP0000749_muscle_degeneration | 2.62235567 |
| 9 | MP0010234_abnormal_vibrissa_follicle | 2.61565554 |
| 10 | MP0002837_dystrophic_cardiac_calcinosis | 2.59516471 |
| 11 | MP0000750_abnormal_muscle_regeneration | 2.59086284 |
| 12 | MP0005501_abnormal_skin_physiology | 2.51335976 |
| 13 | MP0009780_abnormal_chondrocyte_physiolo | 2.37034580 |
| 14 | MP0010352_gastrointestinal_tract_polyps | 2.31777431 |
| 15 | MP0004036_abnormal_muscle_relaxation | 2.13283507 |
| 16 | MP0005330_cardiomyopathy | 2.12523168 |
| 17 | MP0004381_abnormal_hair_follicle | 2.05437105 |
| 18 | MP0004087_abnormal_muscle_fiber | 2.01307476 |
| 19 | MP0002254_reproductive_system_inflammat | 1.94518824 |
| 20 | MP0002060_abnormal_skin_morphology | 1.89088822 |
| 21 | MP0004272_abnormal_basement_membrane | 1.88556260 |
| 22 | MP0003806_abnormal_nucleotide_metabolis | 1.88050398 |
| 23 | MP0010030_abnormal_orbit_morphology | 1.87688663 |
| 24 | MP0003646_muscle_fatigue | 1.85805321 |
| 25 | MP0005409_darkened_coat_color | 1.80951928 |
| 26 | MP0005451_abnormal_body_composition | 1.80712617 |
| 27 | MP0005257_abnormal_intraocular_pressure | 1.74216838 |
| 28 | MP0002269_muscular_atrophy | 1.74208314 |
| 29 | MP0002249_abnormal_larynx_morphology | 1.72668558 |
| 30 | MP0008775_abnormal_heart_ventricle | 1.67649772 |
| 31 | MP0003453_abnormal_keratinocyte_physiol | 1.65842018 |
| 32 | MP0005023_abnormal_wound_healing | 1.65106499 |
| 33 | MP0005058_abnormal_lysosome_morphology | 1.63860352 |
| 34 | MP0005503_abnormal_tendon_morphology | 1.63604545 |
| 35 | MP0010630_abnormal_cardiac_muscle | 1.63178894 |
| 36 | MP0008438_abnormal_cutaneous_collagen | 1.62692784 |
| 37 | MP0004215_abnormal_myocardial_fiber | 1.61748591 |
| 38 | MP0000566_synostosis | 1.61303182 |
| 39 | MP0009384_cardiac_valve_regurgitation | 1.61224859 |
| 40 | MP0002972_abnormal_cardiac_muscle | 1.59100271 |
| 41 | MP0000762_abnormal_tongue_morphology | 1.56665953 |
| 42 | MP0005623_abnormal_meninges_morphology | 1.53146270 |
| 43 | MP0003828_pulmonary_edema | 1.48990625 |
| 44 | MP0006138_congestive_heart_failure | 1.48671269 |
| 45 | MP0003950_abnormal_plasma_membrane | 1.48101912 |
| 46 | MP0002106_abnormal_muscle_physiology | 1.47215671 |
| 47 | MP0001216_abnormal_epidermal_layer | 1.43745173 |
| 48 | MP0000759_abnormal_skeletal_muscle | 1.43714288 |
| 49 | MP0000579_abnormal_nail_morphology | 1.42937376 |
| 50 | MP0000747_muscle_weakness | 1.42454685 |
| 51 | MP0005620_abnormal_muscle_contractility | 1.40655257 |
| 52 | MP0000467_abnormal_esophagus_morphology | 1.40269012 |
| 53 | MP0003191_abnormal_cellular_cholesterol | 1.39346100 |
| 54 | MP0003279_aneurysm | 1.38603801 |
| 55 | MP0005385_cardiovascular_system_phenoty | 1.37688512 |
| 56 | MP0001544_abnormal_cardiovascular_syste | 1.37688512 |
| 57 | MP0004185_abnormal_adipocyte_glucose | 1.36848755 |
| 58 | MP0010771_integument_phenotype | 1.34950784 |
| 59 | MP0000678_abnormal_parathyroid_gland | 1.33776086 |
| 60 | MP0004133_heterotaxia | 1.31596946 |
| 61 | MP0000733_abnormal_muscle_development | 1.27198562 |
| 62 | MP0004145_abnormal_muscle_electrophysio | 1.26832060 |
| 63 | MP0004858_abnormal_nervous_system | 1.25343339 |
| 64 | MP0001849_ear_inflammation | 1.25204123 |
| 65 | MP0009840_abnormal_foam_cell | 1.24480426 |
| 66 | MP0000003_abnormal_adipose_tissue | 1.23835552 |
| 67 | MP0000462_abnormal_digestive_system | 1.22673367 |
| 68 | MP0005369_muscle_phenotype | 1.22461735 |
| 69 | MP0004233_abnormal_muscle_weight | 1.22021562 |
| 70 | MP0002877_abnormal_melanocyte_morpholog | 1.18910547 |
| 71 | MP0004957_abnormal_blastocyst_morpholog | 1.18633113 |
| 72 | MP0005083_abnormal_biliary_tract | 1.16767137 |
| 73 | MP0000537_abnormal_urethra_morphology | 1.16610442 |
| 74 | MP0002332_abnormal_exercise_endurance | 1.15108655 |
| 75 | MP0002127_abnormal_cardiovascular_syste | 1.13114498 |
| 76 | MP0000013_abnormal_adipose_tissue | 1.12074172 |
| 77 | MP0002098_abnormal_vibrissa_morphology | 1.11560606 |
| 78 | MP0008260_abnormal_autophagy | 1.09565586 |
| 79 | MP0000627_abnormal_mammary_gland | 1.08850696 |
| 80 | MP0003567_abnormal_fetal_cardiomyocyte | 1.07712463 |
| 81 | MP0000534_abnormal_ureter_morphology | 1.07069193 |
| 82 | MP0005666_abnormal_adipose_tissue | 1.05685138 |
| 83 | MP0004484_altered_response_of | 1.05541447 |
| 84 | MP0005670_abnormal_white_adipose | 1.04692749 |
| 85 | MP0009053_abnormal_anal_canal | 1.04560867 |
| 86 | MP0002089_abnormal_postnatal_growth/wei | 1.03790139 |
| 87 | MP0005508_abnormal_skeleton_morphology | 1.03358794 |
| 88 | MP0009379_abnormal_foot_pigmentation | 1.01130021 |
| 89 | MP0000377_abnormal_hair_follicle | 1.00182439 |
| 90 | MP0003137_abnormal_impulse_conducting | 0.98508780 |
| 91 | MP0004782_abnormal_surfactant_physiolog | 0.98071909 |
| 92 | MP0005076_abnormal_cell_differentiation | 0.96977973 |
| 93 | MP0000767_abnormal_smooth_muscle | 0.96534734 |
| 94 | MP0004510_myositis | 0.95980011 |
| 95 | MP0002653_abnormal_ependyma_morphology | 0.95868527 |
| 96 | MP0002896_abnormal_bone_mineralization | 0.95372318 |
| 97 | MP0002234_abnormal_pharynx_morphology | 0.95185554 |
| 98 | MP0000647_abnormal_sebaceous_gland | 0.94981985 |
| 99 | MP0003221_abnormal_cardiomyocyte_apopto | 0.94840246 |
| 100 | MP0004197_abnormal_fetal_growth/weight/ | 0.94129291 |
| 101 | MP0010368_abnormal_lymphatic_system | 0.89367313 |
| 102 | MP0010678_abnormal_skin_adnexa | 0.88237096 |
| 103 | MP0005165_increased_susceptibility_to | 0.87606644 |
| 104 | MP0005380_embryogenesis_phenotype | 0.85778253 |
| 105 | MP0001672_abnormal_embryogenesis/_devel | 0.85778253 |
| 106 | MP0002086_abnormal_extraembryonic_tissu | 0.85249259 |
| 107 | MP0000516_abnormal_urinary_system | 0.84973113 |
| 108 | MP0005367_renal/urinary_system_phenotyp | 0.84973113 |
| 109 | MP0000427_abnormal_hair_cycle | 0.84614778 |
| 110 | MP0001730_embryonic_growth_arrest | 0.84399026 |
| 111 | MP0003984_embryonic_growth_retardation | 0.84180976 |
| 112 | MP0002088_abnormal_embryonic_growth/wei | 0.84172570 |
| 113 | MP0002084_abnormal_developmental_patter | 0.83941767 |
| 114 | MP0001881_abnormal_mammary_gland | 0.82773987 |
| 115 | MP0000266_abnormal_heart_morphology | 0.80644053 |
| 116 | MP0000383_abnormal_hair_follicle | 0.80522415 |
| 117 | MP0003693_abnormal_embryo_hatching | 0.79802009 |
| 118 | MP0000343_altered_response_to | 0.79722601 |
| 119 | MP0002085_abnormal_embryonic_tissue | 0.79469823 |
| 120 | MP0003942_abnormal_urinary_system | 0.79259541 |
| 121 | MP0002108_abnormal_muscle_morphology | 0.79239653 |
| 122 | MP0001243_abnormal_dermal_layer | 0.78479113 |
| 123 | MP0009931_abnormal_skin_appearance | 0.78301148 |
| 124 | MP0004264_abnormal_extraembryonic_tissu | 0.77808102 |
| 125 | MP0002925_abnormal_cardiovascular_devel | 0.77254416 |
| 126 | MP0005375_adipose_tissue_phenotype | 0.76893065 |
| 127 | MP0000350_abnormal_cell_proliferation | 0.74481750 |
| 128 | MP0001958_emphysema | 0.73701250 |
| 129 | MP0003091_abnormal_cell_migration | 0.72706875 |
| 130 | MP0001697_abnormal_embryo_size | 0.70995041 |
| 131 | MP0001348_abnormal_lacrimal_gland | 0.70394601 |
| 132 | MP0000367_abnormal_coat/_hair | 0.66164892 |
| 133 | MP0003123_paternal_imprinting | 0.65445915 |
| 134 | MP0001340_abnormal_eyelid_morphology | 0.64764098 |
| 135 | MP0000858_altered_metastatic_potential | 0.64264503 |
| 136 | MP0000681_abnormal_thyroid_gland | 0.59408235 |
| 137 | MP0000538_abnormal_urinary_bladder | 0.58572714 |
| 138 | MP0001542_abnormal_bone_strength | 0.58016631 |
| 139 | MP0003638_abnormal_response/metabolism_ | 0.58015635 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Right ventricular cardiomyopathy (HP:0011663) | 6.29781386 |
| 2 | Ventricular tachycardia (HP:0004756) | 5.02120276 |
| 3 | Muscle fiber splitting (HP:0003555) | 4.82282922 |
| 4 | Increased connective tissue (HP:0009025) | 4.74346628 |
| 5 | * Hyporeflexia of lower limbs (HP:0002600) | 4.50044123 |
| 6 | Sudden death (HP:0001699) | 4.48686520 |
| 7 | Type 1 muscle fiber predominance (HP:0003803) | 3.79624159 |
| 8 | Muscle fiber cytoplasmatic inclusion bodies (HP:0100303) | 3.76416420 |
| 9 | Difficulty climbing stairs (HP:0003551) | 3.68235659 |
| 10 | Muscle fiber inclusion bodies (HP:0100299) | 3.63121140 |
| 11 | Hypotrichosis (HP:0001006) | 3.59009098 |
| 12 | Abnormality of nail color (HP:0100643) | 3.55111077 |
| 13 | Exercise-induced muscle cramps (HP:0003710) | 3.49313479 |
| 14 | Distal arthrogryposis (HP:0005684) | 3.44914083 |
| 15 | Hyperacusis (HP:0010780) | 3.35304912 |
| 16 | * Distal lower limb muscle weakness (HP:0009053) | 3.29935764 |
| 17 | Nemaline bodies (HP:0003798) | 3.26544788 |
| 18 | EMG: myopathic abnormalities (HP:0003458) | 3.19437625 |
| 19 | Round ear (HP:0100830) | 3.14727840 |
| 20 | Abnormality of the calf musculature (HP:0001430) | 3.14456137 |
| 21 | Woolly hair (HP:0002224) | 3.05716434 |
| 22 | Difficulty running (HP:0009046) | 3.00455866 |
| 23 | Exercise-induced myalgia (HP:0003738) | 2.98344794 |
| 24 | Calf muscle hypertrophy (HP:0008981) | 2.97072669 |
| 25 | J-shaped sella turcica (HP:0002680) | 2.90536240 |
| 26 | Onycholysis (HP:0001806) | 2.85530950 |
| 27 | Trismus (HP:0000211) | 2.83134903 |
| 28 | Lipoatrophy (HP:0100578) | 2.80296891 |
| 29 | Fragile nails (HP:0001808) | 2.76409564 |
| 30 | Milia (HP:0001056) | 2.73305332 |
| 31 | Atrophic scars (HP:0001075) | 2.73033490 |
| 32 | Nail dystrophy (HP:0008404) | 2.72730190 |
| 33 | Popliteal pterygium (HP:0009756) | 2.70372039 |
| 34 | Mildly elevated creatine phosphokinase (HP:0008180) | 2.65789241 |
| 35 | Muscle hypertrophy of the lower extremities (HP:0008968) | 2.63738591 |
| 36 | Spinal rigidity (HP:0003306) | 2.63362260 |
| 37 | Abnormal hemoglobin (HP:0011902) | 2.61812866 |
| 38 | Centrally nucleated skeletal muscle fibers (HP:0003687) | 2.61795421 |
| 39 | Distal lower limb amyotrophy (HP:0008944) | 2.61197430 |
| 40 | Vertebral compression fractures (HP:0002953) | 2.57432930 |
| 41 | Plantar hyperkeratosis (HP:0007556) | 2.56115548 |
| 42 | Pili torti (HP:0003777) | 2.54483636 |
| 43 | Myopathic facies (HP:0002058) | 2.54408842 |
| 44 | Broad face (HP:0000283) | 2.52119975 |
| 45 | Atrial fibrillation (HP:0005110) | 2.51683592 |
| 46 | Abnormality of skeletal muscle fiber size (HP:0012084) | 2.49780756 |
| 47 | Protrusio acetabuli (HP:0003179) | 2.48946227 |
| 48 | Myotonia (HP:0002486) | 2.48550069 |
| 49 | Neck muscle weakness (HP:0000467) | 2.47726199 |
| 50 | Increased variability in muscle fiber diameter (HP:0003557) | 2.45692294 |
| 51 | Palmoplantar keratoderma (HP:0000982) | 2.44038218 |
| 52 | Palpitations (HP:0001962) | 2.42739040 |
| 53 | Generalized amyotrophy (HP:0003700) | 2.42012808 |
| 54 | Advanced eruption of teeth (HP:0006288) | 2.41596322 |
| 55 | Bladder diverticulum (HP:0000015) | 2.41535016 |
| 56 | * Areflexia of lower limbs (HP:0002522) | 2.40518033 |
| 57 | Pterygium (HP:0001059) | 2.39924987 |
| 58 | Scapular winging (HP:0003691) | 2.39919228 |
| 59 | Supraventricular arrhythmia (HP:0005115) | 2.39562283 |
| 60 | Primary atrial arrhythmia (HP:0001692) | 2.38769315 |
| 61 | Abnormality of the Achilles tendon (HP:0005109) | 2.37691470 |
| 62 | Myoglobinuria (HP:0002913) | 2.36931723 |
| 63 | Ventricular arrhythmia (HP:0004308) | 2.35969999 |
| 64 | Supraventricular tachycardia (HP:0004755) | 2.34231295 |
| 65 | Testicular atrophy (HP:0000029) | 2.33941223 |
| 66 | Dilated cardiomyopathy (HP:0001644) | 2.32872555 |
| 67 | Natal tooth (HP:0000695) | 2.31314177 |
| 68 | Premature rupture of membranes (HP:0001788) | 2.27848855 |
| 69 | Axonal loss (HP:0003447) | 2.27308960 |
| 70 | Abnormality of the salivary glands (HP:0010286) | 2.26328841 |
| 71 | Selective tooth agenesis (HP:0001592) | 2.25734920 |
| 72 | Ulnar deviation of the wrist (HP:0003049) | 2.25237235 |
| 73 | Rhabdomyolysis (HP:0003201) | 2.24572113 |
| 74 | Bulbar palsy (HP:0001283) | 2.24517402 |
| 75 | Elbow flexion contracture (HP:0002987) | 2.20113809 |
| 76 | Abnormal hair laboratory examination (HP:0003328) | 2.19995491 |
| 77 | Subaortic stenosis (HP:0001682) | 2.19382161 |
| 78 | Abnormality of the left ventricular outflow tract (HP:0011103) | 2.19382161 |
| 79 | Ankle contracture (HP:0006466) | 2.19319968 |
| 80 | Ulnar bowing (HP:0003031) | 2.17414175 |
| 81 | Curly hair (HP:0002212) | 2.15844290 |
| 82 | Short nail (HP:0001799) | 2.14520245 |
| 83 | Asymmetry of the thorax (HP:0001555) | 2.14509320 |
| 84 | Cerebral aneurysm (HP:0004944) | 2.14441991 |
| 85 | Stridor (HP:0010307) | 2.12541055 |
| 86 | Septate vagina (HP:0001153) | 2.11581354 |
| 87 | Bundle branch block (HP:0011710) | 2.10587735 |
| 88 | Abnormality of the distal phalanges of the toes (HP:0010182) | 2.08651622 |
| 89 | Thick nail (HP:0001805) | 2.06660151 |
| 90 | Syncope (HP:0001279) | 2.05853170 |
| 91 | Cervical subluxation (HP:0003308) | 2.04999293 |
| 92 | Lip pit (HP:0100267) | 2.04960298 |
| 93 | Shallow orbits (HP:0000586) | 2.04915244 |
| 94 | Achilles tendon contracture (HP:0001771) | 2.04707018 |
| 95 | Acanthosis nigricans (HP:0000956) | 2.03620186 |
| 96 | Limb-girdle muscle atrophy (HP:0003797) | 2.02921704 |
| 97 | Palmoplantar hyperkeratosis (HP:0000972) | 2.01516819 |
| 98 | Fused cervical vertebrae (HP:0002949) | 1.98583690 |
| 99 | Fragile skin (HP:0001030) | 1.98248171 |
| 100 | Hyperparathyroidism (HP:0000843) | 1.97985500 |
| 101 | Fatigable weakness (HP:0003473) | 1.97940664 |
| 102 | Abnormality of the neuromuscular junction (HP:0003398) | 1.97940664 |
| 103 | Mitral regurgitation (HP:0001653) | 1.97737811 |
| 104 | Ridged nail (HP:0001807) | 1.97694650 |
| 105 | Lymphangioma (HP:0100764) | 1.97662411 |
| 106 | Abnormality of the calcaneus (HP:0008364) | 1.97461998 |
| 107 | Upper limb amyotrophy (HP:0009129) | 1.97356536 |
| 108 | Distal upper limb amyotrophy (HP:0007149) | 1.97356536 |
| 109 | Back pain (HP:0003418) | 1.97309419 |
| 110 | Thin bony cortex (HP:0002753) | 1.97046745 |
| 111 | Ventricular fibrillation (HP:0001663) | 1.96926864 |
| 112 | Palmar hyperkeratosis (HP:0010765) | 1.96549924 |
| 113 | Malignant hyperthermia (HP:0002047) | 1.96537967 |
| 114 | Muscular dystrophy (HP:0003560) | 1.96029188 |
| 115 | Wrist flexion contracture (HP:0001239) | 1.94197907 |
| 116 | Lower limb amyotrophy (HP:0007210) | 1.93735482 |
| 117 | Insomnia (HP:0100785) | 1.92161245 |
| 118 | Muscle stiffness (HP:0003552) | 1.91156159 |
| 119 | Mesangial abnormality (HP:0001966) | 1.90793933 |
| 120 | Ependymoma (HP:0002888) | 1.88593406 |
| 121 | Alopecia of scalp (HP:0002293) | 1.86388473 |
| 122 | Osteolytic defects of the phalanges of the hand (HP:0009771) | 1.86236138 |
| 123 | Osteolytic defects of the hand bones (HP:0009699) | 1.86236138 |
| 124 | Asymmetric septal hypertrophy (HP:0001670) | 1.85869974 |
| 125 | Easy fatigability (HP:0003388) | 1.85758773 |
| 126 | Hip contracture (HP:0003273) | 1.85382326 |
| 127 | Calcaneovalgus deformity (HP:0001848) | 1.84819947 |
| 128 | Sparse eyelashes (HP:0000653) | 1.84368379 |
| 129 | Aplasia/hypoplasia of the humerus (HP:0006507) | 1.84010650 |
| 130 | Long toe (HP:0010511) | 1.83661716 |
| 131 | Hydroureter (HP:0000072) | 1.83175109 |
| 132 | Blue sclerae (HP:0000592) | 1.82646848 |
| 133 | Vascular tortuosity (HP:0004948) | 1.82194978 |
| 134 | Abnormal atrioventricular conduction (HP:0005150) | 1.82186236 |
| 135 | Congenital ichthyosiform erythroderma (HP:0007431) | 1.81045754 |
| 136 | * Foot dorsiflexor weakness (HP:0009027) | 1.80962715 |
| 137 | Abnormality of the umbilical cord (HP:0010881) | 1.80784534 |
| 138 | Arterial tortuosity (HP:0005116) | 1.79024420 |
| 139 | * Abnormality of the foot musculature (HP:0001436) | 1.78812639 |
| 140 | Abnormal blistering of the skin (HP:0008066) | 1.77752163 |
| 141 | Short humerus (HP:0005792) | 1.77366018 |
| 142 | * EMG: neuropathic changes (HP:0003445) | 1.76941714 |
| 143 | Wormian bones (HP:0002645) | 1.74877487 |
| 144 | Nuclear cataract (HP:0100018) | 1.73705995 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EPHA2 | 4.53176649 |
| 2 | TTN | 4.33065135 |
| 3 | SIK1 | 3.55852067 |
| 4 | LATS2 | 2.76011059 |
| 5 | NEK1 | 2.67666033 |
| 6 | SMG1 | 2.63609230 |
| 7 | LIMK1 | 2.24053366 |
| 8 | FER | 2.21547039 |
| 9 | OBSCN | 2.21193589 |
| 10 | MAP3K3 | 2.19609983 |
| 11 | TESK1 | 2.15438821 |
| 12 | PKN2 | 2.10817933 |
| 13 | MUSK | 2.06182156 |
| 14 | TRIB3 | 2.02358020 |
| 15 | LMTK2 | 2.01265486 |
| 16 | MYLK | 1.92936192 |
| 17 | STK38L | 1.88263398 |
| 18 | PDK3 | 1.72586327 |
| 19 | PDK4 | 1.72586327 |
| 20 | IRAK3 | 1.71439986 |
| 21 | CDK12 | 1.69049888 |
| 22 | PDK2 | 1.62760258 |
| 23 | BCKDK | 1.58676694 |
| 24 | PHKG2 | 1.52265991 |
| 25 | PHKG1 | 1.52265991 |
| 26 | VRK2 | 1.50479686 |
| 27 | ARAF | 1.46761521 |
| 28 | LRRK2 | 1.45882295 |
| 29 | LATS1 | 1.41238605 |
| 30 | MAP3K11 | 1.32902353 |
| 31 | TSSK6 | 1.32862259 |
| 32 | AKT3 | 1.32597222 |
| 33 | PIM2 | 1.29572010 |
| 34 | MST4 | 1.27317173 |
| 35 | DMPK | 1.27189124 |
| 36 | MET | 1.26388650 |
| 37 | PIK3CG | 1.25305790 |
| 38 | STK10 | 1.23790450 |
| 39 | RIPK1 | 1.23577612 |
| 40 | EPHB2 | 1.21448965 |
| 41 | ERN1 | 1.19131236 |
| 42 | PAK4 | 1.17422115 |
| 43 | TRPM7 | 1.15790506 |
| 44 | WEE1 | 1.15312990 |
| 45 | RPS6KA2 | 1.10508408 |
| 46 | * RPS6KB2 | 1.09762123 |
| 47 | PRKD2 | 1.08611941 |
| 48 | MAP2K3 | 1.07511379 |
| 49 | PRPF4B | 1.06415454 |
| 50 | BUB1 | 1.05090588 |
| 51 | PTK2 | 1.04969550 |
| 52 | TIE1 | 1.02038970 |
| 53 | CAMK2G | 0.99650540 |
| 54 | TTK | 0.98744517 |
| 55 | KDR | 0.96632723 |
| 56 | PDGFRA | 0.96425225 |
| 57 | MTOR | 0.96273255 |
| 58 | NTRK1 | 0.96233831 |
| 59 | PRKD3 | 0.95996354 |
| 60 | MAP2K1 | 0.95877108 |
| 61 | EEF2K | 0.95509658 |
| 62 | ILK | 0.95207271 |
| 63 | CDC42BPA | 0.95141824 |
| 64 | MAP2K2 | 0.94851351 |
| 65 | DDR2 | 0.92689410 |
| 66 | MAP3K8 | 0.91639010 |
| 67 | PRKCI | 0.89682294 |
| 68 | PAK2 | 0.88696328 |
| 69 | DAPK3 | 0.88666815 |
| 70 | NME2 | 0.87335712 |
| 71 | ZAK | 0.86045387 |
| 72 | ROCK1 | 0.84896189 |
| 73 | TGFBR1 | 0.84190031 |
| 74 | TGFBR2 | 0.82290123 |
| 75 | TESK2 | 0.82243917 |
| 76 | CDK7 | 0.82207765 |
| 77 | PAK3 | 0.81296462 |
| 78 | TBK1 | 0.77351721 |
| 79 | AURKA | 0.76363313 |
| 80 | FLT3 | 0.75270569 |
| 81 | MAP3K6 | 0.74164354 |
| 82 | PTK6 | 0.70887134 |
| 83 | ABL2 | 0.70272937 |
| 84 | STK24 | 0.68781021 |
| 85 | STK38 | 0.66826961 |
| 86 | CAMK2B | 0.65624484 |
| 87 | MATK | 0.65257548 |
| 88 | PRKG2 | 0.64753849 |
| 89 | BMX | 0.64476039 |
| 90 | ROCK2 | 0.63076751 |
| 91 | PDPK1 | 0.62893518 |
| 92 | CAMK2D | 0.62724053 |
| 93 | EPHB1 | 0.62490716 |
| 94 | TAOK1 | 0.60435681 |
| 95 | AURKB | 0.57680246 |
| 96 | AKT2 | 0.57462097 |
| 97 | PIK3CA | 0.56510688 |
| 98 | EPHA3 | 0.56324289 |
| 99 | NEK6 | 0.55654046 |
| 100 | MAP3K5 | 0.55615773 |
| 101 | FGFR1 | 0.52654688 |
| 102 | MAPK12 | 0.52482713 |
| 103 | MAPKAPK5 | 0.51696615 |
| 104 | RET | 0.49762708 |
| 105 | RPS6KA6 | 0.49742691 |
| 106 | MAP3K1 | 0.49042807 |
| 107 | BRAF | 0.48898512 |
| 108 | PAK1 | 0.48339085 |
| 109 | HIPK2 | 0.48163307 |
| 110 | MST1R | 0.48093144 |
| 111 | RPS6KA4 | 0.48054208 |
| 112 | * PRKD1 | 0.47928733 |
| 113 | GRK6 | 0.45857237 |
| 114 | ICK | 0.45656270 |
| 115 | SCYL2 | 0.45622102 |
| 116 | MAPK15 | 0.43339311 |
| 117 | NME1 | 0.43142756 |
| 118 | MOS | 0.42821973 |
| 119 | MAP3K2 | 0.42593403 |
| 120 | FGFR4 | 0.42552428 |
| 121 | RPS6KL1 | 0.42118744 |
| 122 | RPS6KC1 | 0.42118744 |
| 123 | CDK6 | 0.41466476 |
| 124 | CDK8 | 0.40842299 |
| 125 | TAOK2 | 0.40297577 |
| 126 | CHUK | 0.39921814 |
| 127 | MAP3K12 | 0.39342466 |
| 128 | ALK | 0.38943031 |
| 129 | MAP3K9 | 0.38834803 |
| 130 | * MAPKAPK2 | 0.37799441 |
| 131 | CSNK1E | 0.36969593 |
| 132 | STK4 | 0.36630953 |
| 133 | PLK1 | 0.36489808 |
| 134 | MAPK4 | 0.34780558 |
| 135 | KSR2 | 0.34428782 |
| 136 | MARK2 | 0.31467848 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 3.32992074 |
| 2 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 3.20210717 |
| 3 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 3.07055152 |
| 4 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 3.01211516 |
| 5 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 2.77821303 |
| 6 | Ribosome_Homo sapiens_hsa03010 | 2.69467682 |
| 7 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 2.49569298 |
| 8 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 2.47946398 |
| 9 | Tight junction_Homo sapiens_hsa04530 | 2.14509223 |
| 10 | ECM-receptor interaction_Homo sapiens_hsa04512 | 2.10677494 |
| 11 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 2.06736710 |
| 12 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 2.02381290 |
| 13 | Adherens junction_Homo sapiens_hsa04520 | 1.97217926 |
| 14 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 1.96188689 |
| 15 | Hippo signaling pathway_Homo sapiens_hsa04390 | 1.93250872 |
| 16 | p53 signaling pathway_Homo sapiens_hsa04115 | 1.75011395 |
| 17 | Carbon metabolism_Homo sapiens_hsa01200 | 1.72246030 |
| 18 | Prion diseases_Homo sapiens_hsa05020 | 1.71831152 |
| 19 | Focal adhesion_Homo sapiens_hsa04510 | 1.68225410 |
| 20 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 1.65384092 |
| 21 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.64074947 |
| 22 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.59636448 |
| 23 | Bladder cancer_Homo sapiens_hsa05219 | 1.59407924 |
| 24 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 1.59396553 |
| 25 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 1.55800243 |
| 26 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 1.55193048 |
| 27 | Other glycan degradation_Homo sapiens_hsa00511 | 1.50580502 |
| 28 | Basal cell carcinoma_Homo sapiens_hsa05217 | 1.44477747 |
| 29 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.41889159 |
| 30 | Proteasome_Homo sapiens_hsa03050 | 1.41131415 |
| 31 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 1.36874313 |
| 32 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 1.35703987 |
| 33 | RNA transport_Homo sapiens_hsa03013 | 1.35222700 |
| 34 | Parkinsons disease_Homo sapiens_hsa05012 | 1.29111823 |
| 35 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 1.24728844 |
| 36 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 1.23719834 |
| 37 | Endometrial cancer_Homo sapiens_hsa05213 | 1.21805619 |
| 38 | Small cell lung cancer_Homo sapiens_hsa05222 | 1.20004974 |
| 39 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.17399557 |
| 40 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 1.17120350 |
| 41 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.17036453 |
| 42 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 1.16866559 |
| 43 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 1.16347528 |
| 44 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 1.15981648 |
| 45 | Viral myocarditis_Homo sapiens_hsa05416 | 1.14964443 |
| 46 | Thyroid cancer_Homo sapiens_hsa05216 | 1.13170806 |
| 47 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 1.10077621 |
| 48 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 1.09934719 |
| 49 | Mismatch repair_Homo sapiens_hsa03430 | 1.09788066 |
| 50 | * VEGF signaling pathway_Homo sapiens_hsa04370 | 1.08602743 |
| 51 | Huntingtons disease_Homo sapiens_hsa05016 | 1.06616128 |
| 52 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 1.04843810 |
| 53 | Glioma_Homo sapiens_hsa05214 | 1.04065027 |
| 54 | Tyrosine metabolism_Homo sapiens_hsa00350 | 1.03453592 |
| 55 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.02880265 |
| 56 | Renal cell carcinoma_Homo sapiens_hsa05211 | 1.01271780 |
| 57 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 1.00549074 |
| 58 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 1.00241985 |
| 59 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.98690550 |
| 60 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 0.95303003 |
| 61 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.92175126 |
| 62 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.91213276 |
| 63 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.89706024 |
| 64 | DNA replication_Homo sapiens_hsa03030 | 0.89238873 |
| 65 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 0.88659640 |
| 66 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 0.87177462 |
| 67 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.84778009 |
| 68 | RNA polymerase_Homo sapiens_hsa03020 | 0.83928100 |
| 69 | Spliceosome_Homo sapiens_hsa03040 | 0.83546498 |
| 70 | Lysosome_Homo sapiens_hsa04142 | 0.83058908 |
| 71 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.81353374 |
| 72 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.81081775 |
| 73 | Melanogenesis_Homo sapiens_hsa04916 | 0.80140957 |
| 74 | Endocytosis_Homo sapiens_hsa04144 | 0.79543620 |
| 75 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.79493211 |
| 76 | * Amoebiasis_Homo sapiens_hsa05146 | 0.78471239 |
| 77 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.78228734 |
| 78 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.77827251 |
| 79 | Hepatitis C_Homo sapiens_hsa05160 | 0.77445495 |
| 80 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 0.76174565 |
| 81 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.76061789 |
| 82 | Melanoma_Homo sapiens_hsa05218 | 0.75772768 |
| 83 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.73809080 |
| 84 | Pathways in cancer_Homo sapiens_hsa05200 | 0.73550601 |
| 85 | Alzheimers disease_Homo sapiens_hsa05010 | 0.72643979 |
| 86 | Axon guidance_Homo sapiens_hsa04360 | 0.72533888 |
| 87 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.71005221 |
| 88 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.70212115 |
| 89 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.69994804 |
| 90 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.69677933 |
| 91 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.69650459 |
| 92 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.68561912 |
| 93 | Cell cycle_Homo sapiens_hsa04110 | 0.67687588 |
| 94 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 0.67564985 |
| 95 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.67038802 |
| 96 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.66915711 |
| 97 | Galactose metabolism_Homo sapiens_hsa00052 | 0.66455053 |
| 98 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.66245022 |
| 99 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.65196445 |
| 100 | Insulin resistance_Homo sapiens_hsa04931 | 0.64774206 |
| 101 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.63792199 |
| 102 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.61063742 |
| 103 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.60220164 |
| 104 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.59335748 |
| 105 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 0.59260991 |
| 106 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.58396238 |
| 107 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.58284482 |
| 108 | HTLV-I infection_Homo sapiens_hsa05166 | 0.57031457 |
| 109 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.54723503 |
| 110 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.54396848 |
| 111 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.52792371 |
| 112 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.52585686 |
| 113 | Prostate cancer_Homo sapiens_hsa05215 | 0.52282369 |
| 114 | Apoptosis_Homo sapiens_hsa04210 | 0.50949408 |
| 115 | Bile secretion_Homo sapiens_hsa04976 | 0.50634570 |
| 116 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.50248377 |
| 117 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.50113702 |
| 118 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.50087268 |
| 119 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.49454921 |
| 120 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.49048027 |
| 121 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.48028445 |
| 122 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.47306166 |
| 123 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.45920710 |
| 124 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.45679651 |
| 125 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.44940901 |
| 126 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.44119502 |
| 127 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.40871133 |
| 128 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.40254057 |
| 129 | * Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.40102105 |
| 130 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.39829426 |
| 131 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.39633379 |
| 132 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.39504573 |
| 133 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.38191299 |
| 134 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.37592072 |
| 135 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.36962479 |
| 136 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.36813539 |
| 137 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.35455758 |
| 138 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.34828930 |
| 139 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.34664524 |
| 140 | Sulfur relay system_Homo sapiens_hsa04122 | 0.34424757 |
| 141 | Base excision repair_Homo sapiens_hsa03410 | 0.32975057 |
| 142 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.31347301 |
| 143 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.30860755 |
| 144 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.30636316 |

