

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sarcomere organization (GO:0045214) | 9.04887783 |
| 2 | myofibril assembly (GO:0030239) | 9.04787556 |
| 3 | response to muscle activity (GO:0014850) | 8.02167079 |
| 4 | lens morphogenesis in camera-type eye (GO:0002089) | 7.09940810 |
| 5 | cardiac myofibril assembly (GO:0055003) | 6.52186649 |
| 6 | negative regulation of potassium ion transmembrane transporter activity (GO:1901017) | 6.46710138 |
| 7 | muscle cell cellular homeostasis (GO:0046716) | 6.35584102 |
| 8 | relaxation of cardiac muscle (GO:0055119) | 6.18945758 |
| 9 | negative regulation of potassium ion transmembrane transport (GO:1901380) | 6.08167371 |
| 10 | cardiac chamber formation (GO:0003207) | 5.81569171 |
| 11 | histone H3-K9 demethylation (GO:0033169) | 5.50223119 |
| 12 | desmosome organization (GO:0002934) | 5.45539657 |
| 13 | actomyosin structure organization (GO:0031032) | 5.41881723 |
| 14 | camera-type eye development (GO:0043010) | 5.41015038 |
| 15 | atrial septum morphogenesis (GO:0060413) | 5.36666144 |
| 16 | * visual perception (GO:0007601) | 5.14224598 |
| 17 | cellular response to osmotic stress (GO:0071470) | 5.09674089 |
| 18 | * sensory perception of light stimulus (GO:0050953) | 5.07466440 |
| 19 | sequestering of extracellular ligand from receptor (GO:0035581) | 5.05065206 |
| 20 | cytolysis (GO:0019835) | 4.79896379 |
| 21 | protein refolding (GO:0042026) | 4.79052872 |
| 22 | cardiac ventricle formation (GO:0003211) | 4.69664062 |
| 23 | ventricular cardiac muscle cell action potential (GO:0086005) | 4.69102724 |
| 24 | regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307) | 4.68024590 |
| 25 | regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO | 4.61834149 |
| 26 | cardiac muscle cell development (GO:0055013) | 4.52652267 |
| 27 | outflow tract septum morphogenesis (GO:0003148) | 4.47622838 |
| 28 | cardiac muscle contraction (GO:0060048) | 4.47309670 |
| 29 | cardiac cell development (GO:0055006) | 4.37265208 |
| 30 | bone trabecula formation (GO:0060346) | 4.32074021 |
| 31 | carnitine shuttle (GO:0006853) | 4.31555021 |
| 32 | plasma membrane repair (GO:0001778) | 4.30994789 |
| 33 | eye development (GO:0001654) | 4.27929405 |
| 34 | atrioventricular valve morphogenesis (GO:0003181) | 4.23396092 |
| 35 | embryonic heart tube development (GO:0035050) | 4.23008928 |
| 36 | regulation of protein sumoylation (GO:0033233) | 4.21597843 |
| 37 | ventricular cardiac muscle tissue morphogenesis (GO:0055010) | 4.19234176 |
| 38 | regulation of ATPase activity (GO:0043462) | 4.15700843 |
| 39 | regulation of ATP catabolic process (GO:1903289) | 4.15700843 |
| 40 | regulation of sarcomere organization (GO:0060297) | 4.15571060 |
| 41 | insulin-like growth factor receptor signaling pathway (GO:0048009) | 4.12698587 |
| 42 | regulation of cardioblast differentiation (GO:0051890) | 4.11322988 |
| 43 | regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880) | 4.08142914 |
| 44 | adrenergic receptor signaling pathway (GO:0071875) | 4.08112919 |
| 45 | cardiac muscle tissue development (GO:0048738) | 4.05661733 |
| 46 | actin-myosin filament sliding (GO:0033275) | 4.04399679 |
| 47 | muscle filament sliding (GO:0030049) | 4.04399679 |
| 48 | positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316) | 4.03522463 |
| 49 | regulation of actin filament-based movement (GO:1903115) | 4.01191647 |
| 50 | regulation of cardioblast proliferation (GO:0003264) | 4.00857131 |
| 51 | regulation of secondary heart field cardioblast proliferation (GO:0003266) | 4.00857131 |
| 52 | regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882) | 3.99464817 |
| 53 | gap junction assembly (GO:0016264) | 3.97901331 |
| 54 | bundle of His cell to Purkinje myocyte communication (GO:0086069) | 3.96803675 |
| 55 | negative regulation of myotube differentiation (GO:0010832) | 3.96613354 |
| 56 | cardiac muscle tissue morphogenesis (GO:0055008) | 3.96509975 |
| 57 | relaxation of muscle (GO:0090075) | 3.92402100 |
| 58 | bile acid and bile salt transport (GO:0015721) | 3.81474191 |
| 59 | regulation of glucocorticoid metabolic process (GO:0031943) | 3.78223714 |
| 60 | positive regulation of cardiac muscle cell differentiation (GO:2000727) | 3.77481469 |
| 61 | adult heart development (GO:0007512) | 3.76978654 |
| 62 | regulation of heart contraction (GO:0008016) | 3.76691621 |
| 63 | regulation of cardiac muscle cell apoptotic process (GO:0010665) | 3.71157483 |
| 64 | tricarboxylic acid cycle (GO:0006099) | 3.70704178 |
| 65 | heart trabecula formation (GO:0060347) | 3.67909776 |
| 66 | regulation of membrane repolarization (GO:0060306) | 3.66964531 |
| 67 | fatty acid transmembrane transport (GO:1902001) | 3.65356207 |
| 68 | negative regulation of hormone biosynthetic process (GO:0032353) | 3.60951329 |
| 69 | cardiac muscle adaptation (GO:0014887) | 3.59383329 |
| 70 | cardiac muscle hypertrophy in response to stress (GO:0014898) | 3.59383329 |
| 71 | muscle hypertrophy in response to stress (GO:0003299) | 3.59383329 |
| 72 | cell communication by electrical coupling involved in cardiac conduction (GO:0086064) | 3.58619155 |
| 73 | positive regulation of cardiac muscle tissue development (GO:0055025) | 3.55810815 |
| 74 | cell communication involved in cardiac conduction (GO:0086065) | 3.55311934 |
| 75 | positive regulation of calcium ion transmembrane transporter activity (GO:1901021) | 3.54166173 |
| 76 | muscle tissue morphogenesis (GO:0060415) | 3.52776740 |
| 77 | actin-mediated cell contraction (GO:0070252) | 3.47333687 |
| 78 | sodium ion export (GO:0071436) | 3.45480075 |
| 79 | regulation of acyl-CoA biosynthetic process (GO:0050812) | 3.44069817 |
| 80 | positive regulation of heart contraction (GO:0045823) | 3.41694283 |
| 81 | positive regulation of cardiac muscle cell proliferation (GO:0060045) | 3.36071491 |
| 82 | regulation of coenzyme metabolic process (GO:0051196) | 3.34823359 |
| 83 | regulation of cofactor metabolic process (GO:0051193) | 3.34823359 |
| 84 | pericardium development (GO:0060039) | 3.33367960 |
| 85 | endocardial cushion morphogenesis (GO:0003203) | 3.33205181 |
| 86 | glomerular basement membrane development (GO:0032836) | 3.31005967 |
| 87 | positive regulation of ATP catabolic process (GO:1903291) | 3.30895499 |
| 88 | positive regulation of ATPase activity (GO:0032781) | 3.30895499 |
| 89 | regulation of tight junction assembly (GO:2000810) | 3.29843647 |
| 90 | cell communication by electrical coupling (GO:0010644) | 3.29632226 |
| 91 | cardiac muscle hypertrophy (GO:0003300) | 3.29390842 |
| 92 | sensory organ development (GO:0007423) | 3.28751950 |
| 93 | regulation of myoblast differentiation (GO:0045661) | 3.28261234 |
| 94 | regulation of relaxation of muscle (GO:1901077) | 3.27163925 |
| 95 | positive regulation of cardiac muscle tissue growth (GO:0055023) | 3.26934996 |
| 96 | negative regulation of homotypic cell-cell adhesion (GO:0034111) | 3.26860885 |
| 97 | striated muscle cell development (GO:0055002) | 3.24520104 |
| 98 | epithelial cell-cell adhesion (GO:0090136) | 3.24150479 |
| 99 | positive regulation of release of sequestered calcium ion into cytosol (GO:0051281) | 3.23921410 |
| 100 | regulation of striated muscle cell apoptotic process (GO:0010662) | 3.23675328 |
| 101 | relaxation of smooth muscle (GO:0044557) | 3.22102777 |
| 102 | cardiac muscle cell action potential involved in contraction (GO:0086002) | 3.18648661 |
| 103 | response to caffeine (GO:0031000) | 3.18510523 |
| 104 | striated muscle contraction (GO:0006941) | 3.17730513 |
| 105 | regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314) | 3.17370901 |
| 106 | regulation of cardiac muscle cell differentiation (GO:2000725) | 3.14641285 |
| 107 | cardiac muscle cell action potential (GO:0086001) | 3.13842671 |
| 108 | endocardial cushion development (GO:0003197) | 3.13515662 |
| 109 | regulation of transcription from RNA polymerase II promoter involved in heart development (GO:190121 | 3.12195199 |
| 110 | negative regulation of cell size (GO:0045792) | 3.11641328 |
| 111 | negative regulation of potassium ion transport (GO:0043267) | 3.08850850 |
| 112 | striated muscle hypertrophy (GO:0014897) | 3.07825366 |
| 113 | regulation of striated muscle contraction (GO:0006942) | 3.07154219 |
| 114 | regulation of the force of heart contraction (GO:0002026) | 3.06469492 |
| 115 | carnitine transmembrane transport (GO:1902603) | 3.06015148 |
| 116 | detection of calcium ion (GO:0005513) | 3.04807318 |
| 117 | cell migration involved in heart development (GO:0060973) | 3.02655951 |
| 118 | lens development in camera-type eye (GO:0002088) | 23.6096381 |
| 119 | regulation of cardiac muscle cell contraction (GO:0086004) | 2.98195505 |
| 120 | regulation of release of sequestered calcium ion into cytosol (GO:0051279) | 2.94583501 |
| 121 | negative regulation of cardiac muscle cell apoptotic process (GO:0010667) | 2.92496026 |
| 122 | regulation of skeletal muscle contraction (GO:0014819) | 2.89930733 |
| 123 | ventricular cardiac muscle cell development (GO:0055015) | 2.86502463 |
| 124 | glomerular visceral epithelial cell development (GO:0072015) | 2.86242911 |
| 125 | negative regulation of striated muscle cell apoptotic process (GO:0010664) | 2.86037092 |
| 126 | trabecula formation (GO:0060343) | 2.82706140 |
| 127 | sarcoplasmic reticulum calcium ion transport (GO:0070296) | 2.81449875 |
| 128 | actin filament-based movement (GO:0030048) | 2.80920786 |
| 129 | response to salt stress (GO:0009651) | 2.78912829 |
| 130 | amino-acid betaine transport (GO:0015838) | 2.78567731 |
| 131 | carnitine transport (GO:0015879) | 2.78567731 |
| 132 | regulation of myotube differentiation (GO:0010830) | 2.77823172 |
| 133 | regulation of heart rate (GO:0002027) | 2.77393777 |
| 134 | regulation of heart rate by cardiac conduction (GO:0086091) | 2.76561831 |
| 135 | regulation of cell communication by electrical coupling (GO:0010649) | 2.75571791 |
| 136 | apoptotic process involved in morphogenesis (GO:0060561) | 2.75461622 |
| 137 | potassium ion export (GO:0071435) | 2.74150421 |
| 138 | regulation of cardiac muscle contraction (GO:0055117) | 2.72732981 |
| 139 | venous blood vessel morphogenesis (GO:0048845) | 2.70904898 |
| 140 | basement membrane organization (GO:0071711) | 2.68416580 |
| 141 | regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510) | 2.66964778 |
| 142 | muscle hypertrophy (GO:0014896) | 2.65774604 |
| 143 | cardiac conduction (GO:0061337) | 2.65570965 |
| 144 | regulation of skeletal muscle fiber development (GO:0048742) | 2.63752892 |
| 145 | membrane repolarization during cardiac muscle cell action potential (GO:0086013) | 2.63096872 |
| 146 | positive regulation of potassium ion transmembrane transport (GO:1901381) | 2.62574671 |
| 147 | negative regulation of protein localization to cell surface (GO:2000009) | 2.61840419 |
| 148 | heart contraction (GO:0060047) | 2.60322395 |
| 149 | heart process (GO:0003015) | 2.60322395 |
| 150 | lens fiber cell development (GO:0070307) | 17.3406863 |
| 151 | lens fiber cell differentiation (GO:0070306) | 13.4157191 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 6.47816107 |
| 2 | CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human | 4.15928025 |
| 3 | EP300_21415370_ChIP-Seq_HL-1_Mouse | 3.93926023 |
| 4 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 3.10792650 |
| 5 | GATA4_21415370_ChIP-Seq_HL-1_Mouse | 3.06873431 |
| 6 | AR_21909140_ChIP-Seq_LNCAP_Human | 2.73528920 |
| 7 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 2.73281783 |
| 8 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 2.67049755 |
| 9 | TBX20_22080862_ChIP-Seq_HEART_Mouse | 2.53727514 |
| 10 | TBX20_22328084_ChIP-Seq_HEART_Mouse | 2.53727514 |
| 11 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 2.47706525 |
| 12 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.42011950 |
| 13 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 2.39668881 |
| 14 | EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse | 2.37834843 |
| 15 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 2.36501741 |
| 16 | ZNF263_19887448_ChIP-Seq_K562_Human | 2.32389935 |
| 17 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 2.31768274 |
| 18 | EGR1_19032775_ChIP-ChIP_M12_Human | 2.29057786 |
| 19 | BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human | 2.22667399 |
| 20 | TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 2.14474642 |
| 21 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 2.12875290 |
| 22 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.11392950 |
| 23 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.99571096 |
| 24 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 1.93952179 |
| 25 | * SUZ12_18692474_ChIP-Seq_MEFs_Mouse | 1.84716910 |
| 26 | CLOCK_20551151_ChIP-Seq_293T_Human | 1.82849514 |
| 27 | ISL1_27105846_Chip-Seq_CPCs_Mouse | 1.80236493 |
| 28 | WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 1.76969212 |
| 29 | EZH2_18974828_ChIP-Seq_MESCs_Mouse | 1.75733644 |
| 30 | RNF2_18974828_ChIP-Seq_MESCs_Mouse | 1.75733644 |
| 31 | SOX9_24532713_ChIP-Seq_HFSC_Mouse | 1.68707705 |
| 32 | MEF2A_21415370_ChIP-Seq_HL-1_Mouse | 1.67320530 |
| 33 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 1.66411396 |
| 34 | KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 1.62536535 |
| 35 | SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 1.62425924 |
| 36 | ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 1.59595771 |
| 37 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 1.56999131 |
| 38 | SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 1.55153229 |
| 39 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.54824215 |
| 40 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 1.51094874 |
| 41 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 1.50622213 |
| 42 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 1.50337507 |
| 43 | ELK3_25401928_ChIP-Seq_HUVEC_Human | 1.48037746 |
| 44 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.46292913 |
| 45 | PRDM5_23873026_ChIP-Seq_MEFs_Mouse | 1.45046959 |
| 46 | BRD4_25478319_ChIP-Seq_HGPS_Human | 1.45003209 |
| 47 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.43723333 |
| 48 | PPAR_26484153_Chip-Seq_NCI-H1993_Human | 1.43327382 |
| 49 | RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 1.41848399 |
| 50 | IKZF1_21737484_ChIP-ChIP_HCT116_Human | 1.41166524 |
| 51 | TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse | 1.40489012 |
| 52 | NANOG_16153702_ChIP-ChIP_HESCs_Human | 1.39674744 |
| 53 | ESR1_22446102_ChIP-Seq_UTERUS_Mouse | 1.38960286 |
| 54 | ZFP281_18757296_ChIP-ChIP_E14_Mouse | 1.38474865 |
| 55 | TRIM28_17542650_ChIP-ChIP_NTERA2_Human | 1.36847708 |
| 56 | TP53_16413492_ChIP-PET_HCT116_Human | 1.36762939 |
| 57 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 1.36153645 |
| 58 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.34664234 |
| 59 | FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.33377860 |
| 60 | SALL4_18804426_ChIP-ChIP_XEN_Mouse | 1.33210508 |
| 61 | * RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.32506810 |
| 62 | CREB1_26743006_Chip-Seq_LNCaP-abl_Human | 1.31613917 |
| 63 | * GATA3_24758297_ChIP-Seq_MCF-7_Human | 1.31584144 |
| 64 | NR1I2_20693526_ChIP-Seq_LIVER_Mouse | 1.29607414 |
| 65 | SMC3_22415368_ChIP-Seq_MEFs_Mouse | 1.29526164 |
| 66 | * ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.29471061 |
| 67 | P300_27058665_Chip-Seq_ZR-75-30cells_Human | 1.29099456 |
| 68 | SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 1.29001960 |
| 69 | CJUN_26792858_Chip-Seq_BT549_Human | 1.28623325 |
| 70 | GATA1_19941827_ChIP-Seq_MEL86_Mouse | 1.27094130 |
| 71 | * JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.26014316 |
| 72 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.25806176 |
| 73 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.25381132 |
| 74 | TCF3_18467660_ChIP-ChIP_MESCs_Mouse | 1.24360878 |
| 75 | * SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 1.23847735 |
| 76 | * KDM2B_26808549_Chip-Seq_SUP-B15_Human | 1.21901068 |
| 77 | TBX3_20139965_ChIP-Seq_ESCs_Mouse | 1.21651453 |
| 78 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 1.21572166 |
| 79 | TBX3_20139965_ChIP-Seq_MESCs_Mouse | 1.21566895 |
| 80 | TP53_20018659_ChIP-ChIP_R1E_Mouse | 1.21467004 |
| 81 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 1.21312737 |
| 82 | NR3C1_23031785_ChIP-Seq_PC12_Mouse | 1.21061140 |
| 83 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.21005077 |
| 84 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.20900366 |
| 85 | KDM2B_26808549_Chip-Seq_K562_Human | 1.19390186 |
| 86 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.18541237 |
| 87 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 1.18113166 |
| 88 | * JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.17495954 |
| 89 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 1.15554381 |
| 90 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.14798733 |
| 91 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.14439596 |
| 92 | TBX5_21415370_ChIP-Seq_HL-1_Mouse | 1.14085152 |
| 93 | SMAD_19615063_ChIP-ChIP_OVARY_Human | 1.13299223 |
| 94 | PHC1_16625203_ChIP-ChIP_MESCs_Mouse | 1.13176123 |
| 95 | UBF1/2_26484160_Chip-Seq_HMECs_Human | 1.12906304 |
| 96 | * FOXA2_19822575_ChIP-Seq_HepG2_Human | 1.12766859 |
| 97 | ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.12053941 |
| 98 | DMRT1_23473982_ChIP-Seq_TESTES_Mouse | 1.11396120 |
| 99 | KDM2B_26808549_Chip-Seq_DND41_Human | 1.11347641 |
| 100 | KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.11321695 |
| 101 | * MTF2_20144788_ChIP-Seq_MESCs_Mouse | 1.11159457 |
| 102 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.11093213 |
| 103 | NRF2_20460467_ChIP-Seq_MEFs_Mouse | 1.10967100 |
| 104 | NFE2L2_20460467_ChIP-Seq_MEFs_Mouse | 1.10967100 |
| 105 | TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 1.05896326 |
| 106 | TFAP2A_17053090_ChIP-ChIP_MCF-7_Human | 1.03467011 |
| 107 | ATF3_27146783_Chip-Seq_COLON_Human | 1.03157123 |
| 108 | FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human | 1.03076614 |
| 109 | WT1_19549856_ChIP-ChIP_CCG9911_Human | 1.02837498 |
| 110 | TRIM28_19339689_ChIP-ChIP_MESCs_Mouse | 1.02767787 |
| 111 | ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.02423656 |
| 112 | SMAD3_21741376_ChIP-Seq_HESCs_Human | 1.02057413 |
| 113 | SOX17_20123909_ChIP-Seq_XEN_Mouse | 1.01886137 |
| 114 | PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 1.01511843 |
| 115 | SMAD3_22036565_ChIP-Seq_ESCs_Mouse | 0.99767131 |
| 116 | FOXO1_23066095_ChIP-Seq_LIVER_Mouse | 0.99754892 |
| 117 | * JARID2_20064375_ChIP-Seq_MESCs_Mouse | 0.99420322 |
| 118 | ZNF274_21170338_ChIP-Seq_K562_Hela | 0.99092901 |
| 119 | * RNF2_27304074_Chip-Seq_ESCs_Mouse | 0.97700299 |
| 120 | CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse | 0.97607112 |
| 121 | SOX9_26525672_Chip-Seq_HEART_Mouse | 0.96692206 |
| 122 | CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 0.95599081 |
| 123 | * SMC1_22415368_ChIP-Seq_MEFs_Mouse | 0.94883209 |
| 124 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 0.93995993 |
| 125 | WT1_25993318_ChIP-Seq_PODOCYTE_Human | 0.93839511 |
| 126 | TP53_23651856_ChIP-Seq_MEFs_Mouse | 0.93755045 |
| 127 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 0.93517108 |
| 128 | SMAD3_18955504_ChIP-ChIP_HaCaT_Human | 0.93352896 |
| 129 | SMAD2_18955504_ChIP-ChIP_HaCaT_Human | 0.93352896 |
| 130 | KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.92617026 |
| 131 | LYL1_20887958_ChIP-Seq_HPC-7_Mouse | 0.91631564 |
| 132 | LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.91381836 |
| 133 | HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse | 0.91311417 |
| 134 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 0.91189605 |
| 135 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 0.91160495 |
| 136 | * TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 0.91047503 |
| 137 | FOXO3_23340844_ChIP-Seq_DLD1_Human | 0.90682719 |
| 138 | * GATA2_21666600_ChIP-Seq_HMVEC_Human | 0.90573940 |
| 139 | SOX2_21211035_ChIP-Seq_LN229_Gbm | 0.90511917 |
| 140 | NKX2-5_21415370_ChIP-Seq_HL-1_Mouse | 0.90109771 |
| 141 | CTNNB1_20460455_ChIP-Seq_HCT116_Human | 0.89783082 |
| 142 | KDM2B_26808549_Chip-Seq_SIL-ALL_Human | 0.88914050 |
| 143 | * SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 0.88606576 |
| 144 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 0.88448969 |
| 145 | SOX2_20726797_ChIP-Seq_SW620_Human | 0.88306247 |
| 146 | EOMES_20176728_ChIP-ChIP_TSCs_Mouse | 0.88107022 |
| 147 | * EZH2_27294783_Chip-Seq_ESCs_Mouse | 0.87983980 |
| 148 | DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 0.87932334 |
| 149 | TCF7_22412390_ChIP-Seq_EML_Mouse | 0.87833052 |
| 150 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 0.87729763 |
| 151 | TBL1_22424771_ChIP-Seq_293T_Human | 0.86682066 |
| 152 | REST_19997604_ChIP-ChIP_NEURONS_Mouse | 0.86463831 |
| 153 | GATA3_20176728_ChIP-ChIP_TSCs_Mouse | 0.86089603 |
| 154 | SMAD4_21799915_ChIP-Seq_A2780_Human | 0.85683515 |
| 155 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 0.82686540 |
| 156 | YAP1_20516196_ChIP-Seq_MESCs_Mouse | 0.82622934 |
| 157 | SOX2_27498859_Chip-Seq_STOMACH_Mouse | 0.82226386 |
| 158 | NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 0.82187139 |
| 159 | KLF4_18555785_ChIP-Seq_MESCs_Mouse | 0.80124617 |
| 160 | RING1B_27294783_Chip-Seq_NPCs_Mouse | 0.80122322 |
| 161 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 0.80018714 |
| 162 | * FOXM1_26456572_ChIP-Seq_MCF-7_Human | 0.79787193 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | * MP0002697_abnormal_eye_size | 8.85838531 |
| 2 | * MP0005193_abnormal_anterior_eye | 5.90450549 |
| 3 | MP0000749_muscle_degeneration | 4.64391809 |
| 4 | MP0002837_dystrophic_cardiac_calcinosis | 4.46149077 |
| 5 | MP0004084_abnormal_cardiac_muscle | 4.36647847 |
| 6 | MP0005330_cardiomyopathy | 3.64807830 |
| 7 | MP0000751_myopathy | 3.37724758 |
| 8 | MP0003646_muscle_fatigue | 3.14609364 |
| 9 | MP0004215_abnormal_myocardial_fiber | 3.04055594 |
| 10 | MP0004036_abnormal_muscle_relaxation | 2.92115087 |
| 11 | MP0005253_abnormal_eye_physiology | 2.89412647 |
| 12 | MP0003941_abnormal_skin_development | 2.81261373 |
| 13 | MP0005197_abnormal_uvea_morphology | 2.60411088 |
| 14 | MP0004087_abnormal_muscle_fiber | 2.47401303 |
| 15 | MP0001286_abnormal_eye_development | 2.44521209 |
| 16 | MP0002269_muscular_atrophy | 2.40874574 |
| 17 | MP0002092_abnormal_eye_morphology | 2.30257088 |
| 18 | MP0002972_abnormal_cardiac_muscle | 2.25507605 |
| 19 | MP0003137_abnormal_impulse_conducting | 2.18460963 |
| 20 | MP0004272_abnormal_basement_membrane | 1.99578780 |
| 21 | MP0010368_abnormal_lymphatic_system | 1.99577910 |
| 22 | MP0005385_cardiovascular_system_phenoty | 1.92219399 |
| 23 | MP0001544_abnormal_cardiovascular_syste | 1.92219399 |
| 24 | MP0008775_abnormal_heart_ventricle | 1.91745320 |
| 25 | MP0010630_abnormal_cardiac_muscle | 1.90356907 |
| 26 | MP0006138_congestive_heart_failure | 1.85913051 |
| 27 | MP0005391_vision/eye_phenotype | 1.79848412 |
| 28 | MP0005620_abnormal_muscle_contractility | 1.78868101 |
| 29 | MP0001661_extended_life_span | 1.73039622 |
| 30 | MP0000750_abnormal_muscle_regeneration | 1.72806903 |
| 31 | MP0005369_muscle_phenotype | 1.67466371 |
| 32 | MP0002108_abnormal_muscle_morphology | 1.65294923 |
| 33 | MP0002106_abnormal_muscle_physiology | 1.64731829 |
| 34 | MP0010234_abnormal_vibrissa_follicle | 1.63095904 |
| 35 | MP0005409_darkened_coat_color | 1.58261647 |
| 36 | MP0000759_abnormal_skeletal_muscle | 1.51674276 |
| 37 | MP0002090_abnormal_vision | 1.50378143 |
| 38 | MP0003705_abnormal_hypodermis_morpholog | 1.49716182 |
| 39 | MP0003828_pulmonary_edema | 1.46322149 |
| 40 | MP0004085_abnormal_heartbeat | 1.45579999 |
| 41 | MP0000372_irregular_coat_pigmentation | 1.42878060 |
| 42 | MP0000747_muscle_weakness | 1.42661014 |
| 43 | MP0004484_altered_response_of | 1.40606582 |
| 44 | MP0005623_abnormal_meninges_morphology | 1.40481395 |
| 45 | MP0003136_yellow_coat_color | 1.37038388 |
| 46 | MP0005171_absent_coat_pigmentation | 1.36878328 |
| 47 | MP0003566_abnormal_cell_adhesion | 1.35342272 |
| 48 | MP0004130_abnormal_muscle_cell | 1.33636466 |
| 49 | MP0004233_abnormal_muscle_weight | 1.33101497 |
| 50 | MP0005248_abnormal_Harderian_gland | 1.26166405 |
| 51 | MP0003567_abnormal_fetal_cardiomyocyte | 1.12617892 |
| 52 | MP0004145_abnormal_muscle_electrophysio | 1.10890661 |
| 53 | MP0005257_abnormal_intraocular_pressure | 1.10640706 |
| 54 | MP0003221_abnormal_cardiomyocyte_apopto | 1.10584055 |
| 55 | MP0001346_abnormal_lacrimal_gland | 1.09855781 |
| 56 | MP0004510_myositis | 1.07061254 |
| 57 | MP0002127_abnormal_cardiovascular_syste | 1.02254297 |
| 58 | MP0003279_aneurysm | 1.01073276 |
| 59 | MP0000266_abnormal_heart_morphology | 1.00665489 |
| 60 | MP0000579_abnormal_nail_morphology | 1.00419417 |
| 61 | MP0001299_abnormal_eye_distance/ | 0.97624325 |
| 62 | MP0003950_abnormal_plasma_membrane | 0.90057136 |
| 63 | MP0008438_abnormal_cutaneous_collagen | 0.89883589 |
| 64 | MP0000462_abnormal_digestive_system | 0.88857867 |
| 65 | MP0010352_gastrointestinal_tract_polyps | 0.88599486 |
| 66 | MP0003937_abnormal_limbs/digits/tail_de | 0.88263201 |
| 67 | MP0005187_abnormal_penis_morphology | 0.86491317 |
| 68 | MP0000015_abnormal_ear_pigmentation | 0.84674556 |
| 69 | MP0002128_abnormal_blood_circulation | 0.82857366 |
| 70 | MP0001879_abnormal_lymphatic_vessel | 0.80923230 |
| 71 | MP0001730_embryonic_growth_arrest | 0.79229802 |
| 72 | MP0000013_abnormal_adipose_tissue | 0.77733931 |
| 73 | MP0005666_abnormal_adipose_tissue | 0.77401746 |
| 74 | MP0003045_fibrosis | 0.76618057 |
| 75 | MP0000371_diluted_coat_color | 0.73678913 |
| 76 | MP0002102_abnormal_ear_morphology | 0.72740484 |
| 77 | MP0005408_hypopigmentation | 0.72323273 |
| 78 | MP0000762_abnormal_tongue_morphology | 0.70269565 |
| 79 | MP0002925_abnormal_cardiovascular_devel | 0.69928260 |
| 80 | MP0004185_abnormal_adipocyte_glucose | 0.69625727 |
| 81 | MP0002009_preneoplasia | 0.68639394 |
| 82 | MP0005319_abnormal_enzyme/_coenzyme | 0.68054310 |
| 83 | MP0002234_abnormal_pharynx_morphology | 0.67558355 |
| 84 | MP0000767_abnormal_smooth_muscle | 0.67518525 |
| 85 | MP0005275_abnormal_skin_tensile | 0.65572584 |
| 86 | MP0008961_abnormal_basal_metabolism | 0.65153957 |
| 87 | MP0002075_abnormal_coat/hair_pigmentati | 0.63442511 |
| 88 | MP0002332_abnormal_exercise_endurance | 0.62231035 |
| 89 | MP0001784_abnormal_fluid_regulation | 0.58369382 |
| 90 | MP0001614_abnormal_blood_vessel | 0.57552798 |
| 91 | MP0002295_abnormal_pulmonary_circulatio | 0.57203169 |
| 92 | MP0000733_abnormal_muscle_development | 0.56840607 |
| 93 | MP0001958_emphysema | 0.55897069 |
| 94 | MP0000230_abnormal_systemic_arterial | 0.54494142 |
| 95 | MP0004134_abnormal_chest_morphology | 0.52493784 |
| 96 | MP0001697_abnormal_embryo_size | 0.52423484 |
| 97 | MP0008057_abnormal_DNA_replication | 0.51989633 |
| 98 | MP0003453_abnormal_keratinocyte_physiol | 0.51958677 |
| 99 | MP0010678_abnormal_skin_adnexa | 0.51913295 |
| 100 | MP0001186_pigmentation_phenotype | 0.51675973 |
| 101 | MP0005195_abnormal_posterior_eye | 0.51286036 |
| 102 | MP0002086_abnormal_extraembryonic_tissu | 0.51048207 |
| 103 | MP0005165_increased_susceptibility_to | 0.49971008 |
| 104 | MP0002877_abnormal_melanocyte_morpholog | 0.49706680 |
| 105 | MP0003984_embryonic_growth_retardation | 0.49014121 |
| 106 | MP0005670_abnormal_white_adipose | 0.47803078 |
| 107 | MP0009384_cardiac_valve_regurgitation | 0.47723724 |
| 108 | MP0001340_abnormal_eyelid_morphology | 0.47370914 |
| 109 | MP0000343_altered_response_to | 0.47304916 |
| 110 | MP0002088_abnormal_embryonic_growth/wei | 0.47089832 |
| 111 | MP0005451_abnormal_body_composition | 0.46764742 |
| 112 | MP0005375_adipose_tissue_phenotype | 0.46615458 |
| 113 | MP0003115_abnormal_respiratory_system | 0.42671233 |
| 114 | MP0009250_abnormal_appendicular_skeleto | 0.42608596 |
| 115 | MP0000049_abnormal_middle_ear | 0.42373645 |
| 116 | MP0000428_abnormal_craniofacial_morphol | 0.42340529 |
| 117 | MP0002638_abnormal_pupillary_reflex | 0.40863248 |
| 118 | MP0009780_abnormal_chondrocyte_physiolo | 0.40271250 |
| 119 | MP0003123_paternal_imprinting | 0.39673865 |
| 120 | MP0002735_abnormal_chemical_nociception | 0.39322948 |
| 121 | MP0006036_abnormal_mitochondrial_physio | 0.37847469 |
| 122 | MP0009053_abnormal_anal_canal | 0.37250454 |
| 123 | MP0005380_embryogenesis_phenotype | 0.35318023 |
| 124 | MP0001672_abnormal_embryogenesis/_devel | 0.35318023 |
| 125 | MP0003935_abnormal_craniofacial_develop | 0.33695577 |
| 126 | MP0002089_abnormal_postnatal_growth/wei | 0.32636836 |
| 127 | MP0003385_abnormal_body_wall | 0.31353035 |
| 128 | MP0004197_abnormal_fetal_growth/weight/ | 0.29577146 |
| 129 | MP0003091_abnormal_cell_migration | 0.28945309 |
| 130 | MP0005595_abnormal_vascular_smooth | 0.28881609 |
| 131 | MP0000537_abnormal_urethra_morphology | 0.26826718 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Congenital cataract (HP:0000519) | 7.57279731 |
| 2 | Corneal dystrophy (HP:0001131) | 6.59483996 |
| 3 | Amblyopia (HP:0000646) | 6.24229334 |
| 4 | Anterior segment dysgenesis (HP:0007700) | 5.55305239 |
| 5 | Polar cataract (HP:0010696) | 4.19524308 |
| 6 | Double outlet right ventricle (HP:0001719) | 3.60181839 |
| 7 | Congenital malformation of the right heart (HP:0011723) | 3.60181839 |
| 8 | Hypoplastic left heart (HP:0004383) | 3.53880986 |
| 9 | Centrally nucleated skeletal muscle fibers (HP:0003687) | 3.43635868 |
| 10 | Sudden death (HP:0001699) | 3.38704441 |
| 11 | Clumsiness (HP:0002312) | 3.24332641 |
| 12 | Microcornea (HP:0000482) | 3.24146836 |
| 13 | Bradycardia (HP:0001662) | 3.02980732 |
| 14 | Nuclear cataract (HP:0100018) | 25.5323898 |
| 15 | * Zonular cataract (HP:0010920) | 21.1276209 |
| 16 | Ragged-red muscle fibers (HP:0003200) | 2.97130034 |
| 17 | Muscle fiber splitting (HP:0003555) | 2.80488818 |
| 18 | Hip contracture (HP:0003273) | 2.80203679 |
| 19 | Scapular winging (HP:0003691) | 2.77497211 |
| 20 | Patent foramen ovale (HP:0001655) | 2.72366539 |
| 21 | Ventricular tachycardia (HP:0004756) | 2.69155372 |
| 22 | Atrial fibrillation (HP:0005110) | 2.53986559 |
| 23 | Abnormality of the anterior chamber (HP:0000593) | 2.49710059 |
| 24 | Bicuspid aortic valve (HP:0001647) | 2.43689238 |
| 25 | Proximal amyotrophy (HP:0007126) | 2.43587307 |
| 26 | Iris coloboma (HP:0000612) | 2.43425222 |
| 27 | Abnormal ventriculo-arterial connection (HP:0011563) | 2.37172672 |
| 28 | Transposition of the great arteries (HP:0001669) | 2.37172672 |
| 29 | Abnormal connection of the cardiac segments (HP:0011545) | 2.37172672 |
| 30 | Primary atrial arrhythmia (HP:0001692) | 2.36367059 |
| 31 | Eosinophilia (HP:0001880) | 2.34030617 |
| 32 | Limited hip movement (HP:0008800) | 2.33876402 |
| 33 | Aplasia cutis congenita (HP:0001057) | 2.30079681 |
| 34 | Supraventricular arrhythmia (HP:0005115) | 2.29118748 |
| 35 | Supraventricular tachycardia (HP:0004755) | 2.27539123 |
| 36 | Hyporeflexia of lower limbs (HP:0002600) | 2.27036554 |
| 37 | Right ventricular cardiomyopathy (HP:0011663) | 2.26835772 |
| 38 | Opacification of the corneal stroma (HP:0007759) | 2.25967182 |
| 39 | Exercise-induced muscle cramps (HP:0003710) | 2.22808702 |
| 40 | Syncope (HP:0001279) | 2.21839605 |
| 41 | Calf muscle hypertrophy (HP:0008981) | 2.18086249 |
| 42 | Lipoatrophy (HP:0100578) | 2.14468316 |
| 43 | Abnormality of the left ventricular outflow tract (HP:0011103) | 2.13794593 |
| 44 | Subaortic stenosis (HP:0001682) | 2.13794593 |
| 45 | EMG: neuropathic changes (HP:0003445) | 2.11459184 |
| 46 | Resting tremor (HP:0002322) | 2.11360858 |
| 47 | Progressive muscle weakness (HP:0003323) | 2.09004629 |
| 48 | Exercise-induced myalgia (HP:0003738) | 2.08693452 |
| 49 | Pulmonary artery stenosis (HP:0004415) | 2.08585852 |
| 50 | Abnormality of the calf musculature (HP:0001430) | 2.02536393 |
| 51 | Diaphragmatic weakness (HP:0009113) | 2.02101764 |
| 52 | Muscular dystrophy (HP:0003560) | 1.99222914 |
| 53 | Preauricular pit (HP:0004467) | 1.98155441 |
| 54 | Periauricular skin pits (HP:0100277) | 1.98155441 |
| 55 | Rimmed vacuoles (HP:0003805) | 1.97496276 |
| 56 | Ventricular arrhythmia (HP:0004308) | 1.96475456 |
| 57 | Prolonged QT interval (HP:0001657) | 1.96296740 |
| 58 | Sclerocornea (HP:0000647) | 1.95884902 |
| 59 | Skin pits (HP:0100276) | 1.94669131 |
| 60 | Abnormality of the tricuspid valve (HP:0001702) | 1.93165234 |
| 61 | Muscle hypertrophy of the lower extremities (HP:0008968) | 1.90698970 |
| 62 | White forelock (HP:0002211) | 1.89670198 |
| 63 | Knee flexion contracture (HP:0006380) | 1.89642772 |
| 64 | Bundle branch block (HP:0011710) | 1.88069177 |
| 65 | Type 1 muscle fiber predominance (HP:0003803) | 1.85523746 |
| 66 | Mitral regurgitation (HP:0001653) | 1.85401481 |
| 67 | Ventricular fibrillation (HP:0001663) | 1.83061870 |
| 68 | Abnormality of glycolysis (HP:0004366) | 1.80760153 |
| 69 | Mildly elevated creatine phosphokinase (HP:0008180) | 1.80466563 |
| 70 | Granulocytopenia (HP:0001913) | 1.76010485 |
| 71 | Coarctation of aorta (HP:0001680) | 1.73910315 |
| 72 | Congestive heart failure (HP:0001635) | 1.73502485 |
| 73 | Patchy hypopigmentation of hair (HP:0011365) | 1.73306559 |
| 74 | Palpitations (HP:0001962) | 1.72988291 |
| 75 | Elbow flexion contracture (HP:0002987) | 1.72205517 |
| 76 | Dilated cardiomyopathy (HP:0001644) | 1.71630587 |
| 77 | Asymmetric septal hypertrophy (HP:0001670) | 1.71506533 |
| 78 | Toxemia of pregnancy (HP:0100603) | 1.71095102 |
| 79 | Myoglobinuria (HP:0002913) | 1.70465999 |
| 80 | Atrioventricular block (HP:0001678) | 1.70312407 |
| 81 | Abnormality of the shoulder girdle musculature (HP:0001435) | 1.70161832 |
| 82 | Generalized muscle weakness (HP:0003324) | 1.68137962 |
| 83 | Blue irides (HP:0000635) | 1.68092678 |
| 84 | EMG: myopathic abnormalities (HP:0003458) | 1.67877502 |
| 85 | Aplasia of the musculature (HP:0100854) | 1.67013680 |
| 86 | Neonatal respiratory distress (HP:0002643) | 1.65350314 |
| 87 | Metatarsus adductus (HP:0001840) | 1.62718408 |
| 88 | Posterior subcapsular cataract (HP:0007787) | 1.61313851 |
| 89 | Increased connective tissue (HP:0009025) | 1.61243746 |
| 90 | Mitral valve prolapse (HP:0001634) | 1.60589246 |
| 91 | Aneurysm (HP:0002617) | 1.60029708 |
| 92 | Abnormality of the fetal cardiovascular system (HP:0010948) | 1.59506768 |
| 93 | Abnormal umbilical cord blood vessels (HP:0011403) | 1.59506768 |
| 94 | Single umbilical artery (HP:0001195) | 1.59506768 |
| 95 | Disproportionate tall stature (HP:0001519) | 1.57501636 |
| 96 | Progressive external ophthalmoplegia (HP:0000590) | 1.55697657 |
| 97 | Heart block (HP:0012722) | 1.51936474 |
| 98 | Arterial tortuosity (HP:0005116) | 1.51691232 |
| 99 | Spinal rigidity (HP:0003306) | 1.51646626 |
| 100 | Increased serum pyruvate (HP:0003542) | 1.51455982 |
| 101 | Skin nodule (HP:0200036) | 1.51334671 |
| 102 | Truncus arteriosus (HP:0001660) | 1.49601303 |
| 103 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.48320070 |
| 104 | Abnormal atrioventricular conduction (HP:0005150) | 1.47110481 |
| 105 | Lymphangioma (HP:0100764) | 1.46862084 |
| 106 | Congenital primary aphakia (HP:0007707) | 1.46632612 |
| 107 | Late onset (HP:0003584) | 1.45970330 |
| 108 | Osteolytic defects of the hand bones (HP:0009699) | 1.44833622 |
| 109 | Osteolytic defects of the phalanges of the hand (HP:0009771) | 1.44833622 |
| 110 | Abnormality of eosinophils (HP:0001879) | 1.44138323 |
| 111 | Aplasia/Hypoplasia of the fovea (HP:0008060) | 1.44078226 |
| 112 | Hypoplasia of the fovea (HP:0007750) | 1.44078226 |
| 113 | Premature rupture of membranes (HP:0001788) | 1.43863246 |
| 114 | Atrophic scars (HP:0001075) | 1.42217566 |
| 115 | Difficulty walking (HP:0002355) | 1.37908339 |
| 116 | Steppage gait (HP:0003376) | 1.37833869 |
| 117 | Vascular tortuosity (HP:0004948) | 1.37076324 |
| 118 | Abnormality of chromosome segregation (HP:0002916) | 1.37009817 |
| 119 | Long clavicles (HP:0000890) | 1.36555309 |
| 120 | Difficulty climbing stairs (HP:0003551) | 1.36225621 |
| 121 | Hypoplastic heart (HP:0001961) | 1.35698994 |
| 122 | Popliteal pterygium (HP:0009756) | 1.35011513 |
| 123 | Fetal akinesia sequence (HP:0001989) | 1.34443676 |
| 124 | Abnormal EKG (HP:0003115) | 1.33321859 |
| 125 | Aplasia/Hypoplasia of the macula (HP:0008059) | 1.31329703 |
| 126 | Aplasia/Hypoplasia affecting the retina (HP:0008061) | 1.30780881 |
| 127 | Exostoses (HP:0100777) | 1.29551876 |
| 128 | Rhabdomyolysis (HP:0003201) | 1.18795137 |
| 129 | Myotonia (HP:0002486) | 1.17556940 |
| 130 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 1.17183711 |
| 131 | Difficulty running (HP:0009046) | 1.17031840 |
| 132 | Abnormality of placental membranes (HP:0011409) | 1.12770931 |
| 133 | Amniotic constriction ring (HP:0009775) | 1.12770931 |
| 134 | Hamartoma of the eye (HP:0010568) | 1.08125817 |
| 135 | Palmoplantar keratoderma (HP:0000982) | 1.03217367 |
| 136 | Thin ribs (HP:0000883) | 1.02476296 |
| 137 | Hypoplastic nipples (HP:0002557) | 1.02199672 |
| 138 | Limb-girdle muscle atrophy (HP:0003797) | 1.01188334 |
| 139 | Fused cervical vertebrae (HP:0002949) | 1.00945299 |
| 140 | Abnormality of the foot musculature (HP:0001436) | 1.00069094 |
| 141 | Aplasia/Hypoplasia involving the musculature (HP:0001460) | 0.99968574 |
| 142 | Pterygium (HP:0001059) | 0.99097284 |
| 143 | Sudden cardiac death (HP:0001645) | 0.95688407 |
| 144 | Left ventricular hypertrophy (HP:0001712) | 0.95029738 |
| 145 | Neck muscle weakness (HP:0000467) | 0.94925504 |
| 146 | Vertebral clefting (HP:0008428) | 0.93443479 |
| 147 | Foot dorsiflexor weakness (HP:0009027) | 0.93199574 |
| 148 | Increased variability in muscle fiber diameter (HP:0003557) | 0.90180154 |
| 149 | Hypoplastic ischia (HP:0003175) | 0.89805560 |
| 150 | Distal lower limb muscle weakness (HP:0009053) | 0.89590437 |
| 151 | Ketoacidosis (HP:0001993) | 0.88963922 |
| 152 | Rib fusion (HP:0000902) | 0.88752057 |
| 153 | Subcapsular cataract (HP:0000523) | 0.88304575 |
| 154 | Leukocytosis (HP:0001974) | 0.87743499 |
| 155 | Visceral angiomatosis (HP:0100761) | 0.87391826 |
| 156 | Cystic hygroma (HP:0000476) | 0.86889533 |
| 157 | Camptodactyly of toe (HP:0001836) | 0.86489278 |
| 158 | Mesangial abnormality (HP:0001966) | 0.85600247 |
| 159 | Rapidly progressive (HP:0003678) | 0.85014672 |
| 160 | Broad metatarsal (HP:0001783) | 0.84977884 |
| 161 | Limb-girdle muscle weakness (HP:0003325) | 0.84306103 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MAP2K6 | 4.48841642 |
| 2 | TTN | 4.34310147 |
| 3 | PKN2 | 3.95812226 |
| 4 | TRIB3 | 3.66991592 |
| 5 | MYLK | 3.02248770 |
| 6 | PHKG1 | 2.94003290 |
| 7 | PHKG2 | 2.94003290 |
| 8 | LMTK2 | 2.87176879 |
| 9 | DMPK | 2.74610316 |
| 10 | WNK4 | 2.67137423 |
| 11 | SGK1 | 2.49954763 |
| 12 | FLT3 | 2.05670812 |
| 13 | STK39 | 2.00567206 |
| 14 | PAK3 | 1.89139252 |
| 15 | PDGFRA | 1.84308619 |
| 16 | BLK | 1.80813411 |
| 17 | PDK3 | 1.78448776 |
| 18 | PDK4 | 1.78448776 |
| 19 | NEK1 | 1.68630886 |
| 20 | MST1R | 1.61360327 |
| 21 | EPHB2 | 1.60559872 |
| 22 | LATS1 | 1.60027110 |
| 23 | DDR2 | 1.56054572 |
| 24 | ILK | 1.54738386 |
| 25 | PRKG1 | 1.53655830 |
| 26 | SIK1 | 1.51286080 |
| 27 | OBSCN | 1.49019578 |
| 28 | LATS2 | 1.45641756 |
| 29 | TIE1 | 1.43957003 |
| 30 | STK24 | 1.38911128 |
| 31 | PIK3CA | 1.37858980 |
| 32 | EPHA2 | 1.36993144 |
| 33 | ROCK1 | 1.36690434 |
| 34 | BRD4 | 1.27918891 |
| 35 | LRRK2 | 1.23046084 |
| 36 | NTRK1 | 1.16936269 |
| 37 | STK38L | 1.16058301 |
| 38 | MUSK | 1.15178610 |
| 39 | MET | 1.14180585 |
| 40 | SCYL2 | 1.13812742 |
| 41 | STK3 | 1.10058943 |
| 42 | PRKD1 | 1.07287510 |
| 43 | WNK1 | 1.03904069 |
| 44 | PRKACB | 1.03099954 |
| 45 | BCKDK | 1.03050740 |
| 46 | LIMK1 | 1.02720164 |
| 47 | ROCK2 | 1.02158273 |
| 48 | IRAK3 | 0.99067944 |
| 49 | PTK6 | 0.98561580 |
| 50 | ICK | 0.95645578 |
| 51 | CAMK4 | 0.93507157 |
| 52 | IGF1R | 0.93488770 |
| 53 | BUB1 | 0.93467732 |
| 54 | PKN1 | 0.92133796 |
| 55 | EEF2K | 0.91338240 |
| 56 | RIPK1 | 0.87940328 |
| 57 | MST4 | 0.87693537 |
| 58 | MAP3K10 | 0.87568676 |
| 59 | MAP3K12 | 0.86892021 |
| 60 | CDC42BPA | 0.85835680 |
| 61 | PRKCB | 0.84899347 |
| 62 | CAMK1 | 0.84060388 |
| 63 | PNCK | 0.83692942 |
| 64 | PAK4 | 0.83206341 |
| 65 | MAP3K5 | 0.82428839 |
| 66 | MAPK10 | 0.78289992 |
| 67 | CAMK2D | 0.77115195 |
| 68 | TRPM7 | 0.76041864 |
| 69 | NME2 | 0.75582375 |
| 70 | PDK2 | 0.75079671 |
| 71 | PTK2B | 0.73994682 |
| 72 | PAK6 | 0.71955754 |
| 73 | INSR | 0.69277153 |
| 74 | PRKD3 | 0.68742072 |
| 75 | WEE1 | 0.68575491 |
| 76 | MAP3K9 | 0.66537389 |
| 77 | PRKACG | 0.66257799 |
| 78 | PINK1 | 0.66205772 |
| 79 | FER | 0.65887827 |
| 80 | RPS6KA3 | 0.65650150 |
| 81 | PRKAA1 | 0.65532853 |
| 82 | STK38 | 0.64634771 |
| 83 | PTK2 | 0.64026800 |
| 84 | ARAF | 0.61077353 |
| 85 | PIM2 | 0.60401457 |
| 86 | NEK2 | 0.59357472 |
| 87 | CDK12 | 0.56934390 |
| 88 | MAPK12 | 0.55541738 |
| 89 | STK10 | 0.55344411 |
| 90 | PBK | 0.54429405 |
| 91 | PAK2 | 0.53799820 |
| 92 | RPS6KC1 | 0.52642330 |
| 93 | RPS6KL1 | 0.52642330 |
| 94 | MAP3K7 | 0.50914328 |
| 95 | STK4 | 0.50816801 |
| 96 | DAPK3 | 0.50651699 |
| 97 | MAPKAPK3 | 0.49610452 |
| 98 | ERBB2 | 0.48214683 |
| 99 | GRK7 | 0.47222183 |
| 100 | KDR | 0.46837387 |
| 101 | NEK9 | 0.46804501 |
| 102 | ERBB4 | 0.46052279 |
| 103 | RET | 0.46003418 |
| 104 | PRKCE | 0.43952726 |
| 105 | MELK | 0.42190401 |
| 106 | EIF2AK1 | 0.41657229 |
| 107 | PRKCQ | 0.40817811 |
| 108 | PDGFRB | 0.39592724 |
| 109 | RPS6KA6 | 0.37415975 |
| 110 | MAP3K8 | 0.37411208 |
| 111 | RAF1 | 0.36896765 |
| 112 | EPHB1 | 0.36443134 |
| 113 | FGFR1 | 0.35699861 |
| 114 | RPS6KA2 | 0.35538996 |
| 115 | TNIK | 0.35237797 |
| 116 | AKT2 | 0.35209267 |
| 117 | TAOK1 | 0.34963111 |
| 118 | MTOR | 0.34779138 |
| 119 | TTK | 0.34393768 |
| 120 | CAMK2A | 0.34123293 |
| 121 | MAP3K3 | 0.33389678 |
| 122 | PLK4 | 0.33238243 |
| 123 | AKT3 | 0.33203731 |
| 124 | PRKCH | 0.33142712 |
| 125 | PRKACA | 0.32875222 |
| 126 | RPS6KA1 | 0.32168504 |
| 127 | TESK1 | 0.31787954 |
| 128 | CDK6 | 0.31530181 |
| 129 | CAMK1G | 0.29162210 |
| 130 | PRKAA2 | 0.29025471 |
| 131 | PDPK1 | 0.28211717 |
| 132 | ZAP70 | 0.27794205 |
| 133 | PRKD2 | 0.25925705 |
| 134 | MOS | 0.25679560 |
| 135 | ADRBK1 | 0.25142172 |
| 136 | UHMK1 | 0.24809168 |
| 137 | MAPKAPK2 | 0.24371289 |
| 138 | CAMKK1 | 0.23585799 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 4.48028984 |
| 2 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 3.93383148 |
| 3 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 3.85154674 |
| 4 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 3.52718106 |
| 5 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 3.51072892 |
| 6 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 3.11742577 |
| 7 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 2.89001872 |
| 8 | Fatty acid degradation_Homo sapiens_hsa00071 | 2.42789005 |
| 9 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.12655474 |
| 10 | Carbon metabolism_Homo sapiens_hsa01200 | 1.94675465 |
| 11 | ECM-receptor interaction_Homo sapiens_hsa04512 | 1.92477595 |
| 12 | Parkinsons disease_Homo sapiens_hsa05012 | 1.83785337 |
| 13 | Viral myocarditis_Homo sapiens_hsa05416 | 1.82155252 |
| 14 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 1.78473009 |
| 15 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.73456487 |
| 16 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.61805230 |
| 17 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 1.60793591 |
| 18 | Small cell lung cancer_Homo sapiens_hsa05222 | 1.58623888 |
| 19 | Focal adhesion_Homo sapiens_hsa04510 | 1.58440038 |
| 20 | Adherens junction_Homo sapiens_hsa04520 | 1.50678503 |
| 21 | Alzheimers disease_Homo sapiens_hsa05010 | 1.43051690 |
| 22 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 1.27596813 |
| 23 | Amoebiasis_Homo sapiens_hsa05146 | 1.25659795 |
| 24 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.23984167 |
| 25 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 1.19979182 |
| 26 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 1.19732679 |
| 27 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 1.18130326 |
| 28 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 1.15840317 |
| 29 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.15628283 |
| 30 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 1.14246959 |
| 31 | Insulin resistance_Homo sapiens_hsa04931 | 1.11650408 |
| 32 | Insulin signaling pathway_Homo sapiens_hsa04910 | 1.11420181 |
| 33 | Huntingtons disease_Homo sapiens_hsa05016 | 1.10891401 |
| 34 | Tight junction_Homo sapiens_hsa04530 | 1.09522089 |
| 35 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 1.08298407 |
| 36 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 1.08002558 |
| 37 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.07791985 |
| 38 | Endometrial cancer_Homo sapiens_hsa05213 | 1.05692483 |
| 39 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 1.03317418 |
| 40 | Lysine degradation_Homo sapiens_hsa00310 | 1.01048519 |
| 41 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.99666754 |
| 42 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.99236593 |
| 43 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.94528197 |
| 44 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 0.94420622 |
| 45 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.89924871 |
| 46 | Renal cell carcinoma_Homo sapiens_hsa05211 | 0.88586152 |
| 47 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.85761182 |
| 48 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.85215112 |
| 49 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.84208756 |
| 50 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.83678019 |
| 51 | Thyroid cancer_Homo sapiens_hsa05216 | 0.82100365 |
| 52 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 0.81563917 |
| 53 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 0.79841454 |
| 54 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.79816112 |
| 55 | Melanoma_Homo sapiens_hsa05218 | 0.79700338 |
| 56 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.79312038 |
| 57 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.78556052 |
| 58 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.74767964 |
| 59 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.74452177 |
| 60 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.73751614 |
| 61 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.73456562 |
| 62 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.71614433 |
| 63 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.71450817 |
| 64 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.71313446 |
| 65 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.71283782 |
| 66 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.70952593 |
| 67 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.70640439 |
| 68 | Melanogenesis_Homo sapiens_hsa04916 | 0.70460922 |
| 69 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.68364173 |
| 70 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.68083891 |
| 71 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.67910912 |
| 72 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.66748902 |
| 73 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.64410195 |
| 74 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 0.62422044 |
| 75 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.61464999 |
| 76 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.60454842 |
| 77 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.60316949 |
| 78 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 0.60029420 |
| 79 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.59030507 |
| 80 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.58436630 |
| 81 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.57024800 |
| 82 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 0.56784669 |
| 83 | Prion diseases_Homo sapiens_hsa05020 | 0.56360308 |
| 84 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.55159686 |
| 85 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.54979443 |
| 86 | Cell cycle_Homo sapiens_hsa04110 | 0.53776619 |
| 87 | Pathways in cancer_Homo sapiens_hsa05200 | 0.52049446 |
| 88 | Axon guidance_Homo sapiens_hsa04360 | 0.51638048 |
| 89 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.51225304 |
| 90 | Circadian entrainment_Homo sapiens_hsa04713 | 0.49842891 |
| 91 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.49712669 |
| 92 | Gap junction_Homo sapiens_hsa04540 | 0.48401510 |
| 93 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 0.47638595 |
| 94 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 0.43822316 |
| 95 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.43651571 |
| 96 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.43520266 |
| 97 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.43057982 |
| 98 | Prostate cancer_Homo sapiens_hsa05215 | 0.43020530 |
| 99 | Insulin secretion_Homo sapiens_hsa04911 | 0.42904026 |
| 100 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.42098595 |
| 101 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.42064059 |
| 102 | Galactose metabolism_Homo sapiens_hsa00052 | 0.41587788 |
| 103 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.41479237 |
| 104 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.41192619 |
| 105 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.41051581 |
| 106 | Mineral absorption_Homo sapiens_hsa04978 | 0.40818567 |
| 107 | Sulfur relay system_Homo sapiens_hsa04122 | 0.40325601 |
| 108 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.40230825 |
| 109 | Glioma_Homo sapiens_hsa05214 | 0.39798038 |
| 110 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.39759320 |
| 111 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.39615674 |
| 112 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.39307304 |
| 113 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.38660672 |
| 114 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.38511433 |
| 115 | Renin secretion_Homo sapiens_hsa04924 | 0.37255608 |
| 116 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.35744803 |
| 117 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 0.35366310 |
| 118 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.34966342 |
| 119 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.34170457 |
| 120 | Bladder cancer_Homo sapiens_hsa05219 | 0.33357401 |
| 121 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.31990853 |
| 122 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.31389638 |
| 123 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.29720089 |
| 124 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.29638201 |
| 125 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.29561492 |
| 126 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.28197431 |
| 127 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.25568381 |
| 128 | Circadian rhythm_Homo sapiens_hsa04710 | 0.25568379 |
| 129 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 0.24916391 |
| 130 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.24621383 |
| 131 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.23913214 |

