

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | muscle filament sliding (GO:0030049) | 8.79021964 |
| 2 | actin-myosin filament sliding (GO:0033275) | 8.79021964 |
| 3 | regulation of skeletal muscle contraction (GO:0014819) | 7.96445795 |
| 4 | actin-mediated cell contraction (GO:0070252) | 7.43710380 |
| 5 | skeletal muscle contraction (GO:0003009) | 7.18757460 |
| 6 | plasma membrane repair (GO:0001778) | 6.93810431 |
| 7 | skeletal muscle fiber development (GO:0048741) | 6.21212292 |
| 8 | regulation of relaxation of muscle (GO:1901077) | 6.15091423 |
| 9 | skeletal muscle adaptation (GO:0043501) | 5.98594561 |
| 10 | sarcoplasmic reticulum calcium ion transport (GO:0070296) | 5.88028668 |
| 11 | actin filament-based movement (GO:0030048) | 5.76069832 |
| 12 | collagen fibril organization (GO:0030199) | 5.53239587 |
| 13 | myotube cell development (GO:0014904) | 5.23086886 |
| 14 | bone trabecula formation (GO:0060346) | 4.92707224 |
| 15 | protein heterotrimerization (GO:0070208) | 4.90612567 |
| 16 | sequestering of extracellular ligand from receptor (GO:0035581) | 4.85863801 |
| 17 | chondrocyte proliferation (GO:0035988) | 4.83096701 |
| 18 | negative regulation of potassium ion transmembrane transporter activity (GO:1901017) | 4.68676811 |
| 19 | muscle organ morphogenesis (GO:0048644) | 4.63425676 |
| 20 | regulation of calcineurin-NFAT signaling cascade (GO:0070884) | 4.58008324 |
| 21 | cardiac muscle contraction (GO:0060048) | 4.46056227 |
| 22 | sarcomere organization (GO:0045214) | 4.32544899 |
| 23 | mesenchymal-epithelial cell signaling (GO:0060638) | 4.31594924 |
| 24 | response to stimulus involved in regulation of muscle adaptation (GO:0014874) | 4.28291536 |
| 25 | positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316) | 4.28011195 |
| 26 | skeletal muscle tissue regeneration (GO:0043403) | 4.19356914 |
| 27 | glycogen biosynthetic process (GO:0005978) | 4.15852145 |
| 28 | glucan biosynthetic process (GO:0009250) | 4.15852145 |
| 29 | myofibril assembly (GO:0030239) | 4.14193041 |
| 30 | striated muscle atrophy (GO:0014891) | 4.10419084 |
| 31 | muscle tissue morphogenesis (GO:0060415) | 3.98947193 |
| 32 | outer ear morphogenesis (GO:0042473) | 3.98514718 |
| 33 | myoblast fusion (GO:0007520) | 3.97859358 |
| 34 | negative regulation of potassium ion transmembrane transport (GO:1901380) | 3.96802156 |
| 35 | muscle cell fate commitment (GO:0042693) | 3.91125209 |
| 36 | positive regulation of myotube differentiation (GO:0010831) | 3.89065755 |
| 37 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.87782339 |
| 38 | response to muscle activity (GO:0014850) | 3.83745694 |
| 39 | negative regulation of fatty acid transport (GO:2000192) | 3.83581709 |
| 40 | striated muscle contraction (GO:0006941) | 3.82734647 |
| 41 | response to inactivity (GO:0014854) | 3.82644968 |
| 42 | heart process (GO:0003015) | 3.81161967 |
| 43 | heart contraction (GO:0060047) | 3.81161967 |
| 44 | craniofacial suture morphogenesis (GO:0097094) | 3.78037151 |
| 45 | striated muscle tissue development (GO:0014706) | 3.74850403 |
| 46 | muscle contraction (GO:0006936) | 3.72591376 |
| 47 | syncytium formation (GO:0006949) | 3.71449223 |
| 48 | NADH metabolic process (GO:0006734) | 3.69603001 |
| 49 | skin morphogenesis (GO:0043589) | 3.62876047 |
| 50 | cardiac muscle hypertrophy (GO:0003300) | 3.61334007 |
| 51 | syncytium formation by plasma membrane fusion (GO:0000768) | 3.59438065 |
| 52 | protein hydroxylation (GO:0018126) | 3.58906744 |
| 53 | response to activity (GO:0014823) | 3.55471833 |
| 54 | endodermal cell differentiation (GO:0035987) | 3.55237928 |
| 55 | polysaccharide catabolic process (GO:0000272) | 3.52389664 |
| 56 | cardiac muscle tissue morphogenesis (GO:0055008) | 3.50862890 |
| 57 | muscle organ development (GO:0007517) | 3.48472631 |
| 58 | actomyosin structure organization (GO:0031032) | 3.47496897 |
| 59 | striated muscle hypertrophy (GO:0014897) | 3.47439350 |
| 60 | chondrocyte development (GO:0002063) | 3.46353218 |
| 61 | regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314) | 3.43832869 |
| 62 | muscle tissue development (GO:0060537) | 3.43413753 |
| 63 | muscle atrophy (GO:0014889) | 3.43078615 |
| 64 | muscle structure development (GO:0061061) | 3.42516132 |
| 65 | middle ear morphogenesis (GO:0042474) | 3.42360978 |
| 66 | positive regulation of mitochondrial calcium ion concentration (GO:0051561) | 3.41341463 |
| 67 | negative regulation of chondrocyte differentiation (GO:0032331) | 3.40455245 |
| 68 | muscle fiber development (GO:0048747) | 3.40235439 |
| 69 | regulation of striated muscle contraction (GO:0006942) | 3.40116451 |
| 70 | cardiac muscle cell development (GO:0055013) | 3.36637622 |
| 71 | collagen metabolic process (GO:0032963) | 3.35844699 |
| 72 | regulation of myoblast differentiation (GO:0045661) | 3.32926472 |
| 73 | metanephric mesenchyme development (GO:0072075) | 3.31418703 |
| 74 | axon extension involved in axon guidance (GO:0048846) | 3.31329015 |
| 75 | neuron projection extension involved in neuron projection guidance (GO:1902284) | 3.31329015 |
| 76 | negative regulation of protein localization to cell surface (GO:2000009) | 3.30741104 |
| 77 | regulation of sequestering of triglyceride (GO:0010889) | 3.29775410 |
| 78 | * embryonic cranial skeleton morphogenesis (GO:0048701) | 3.29657314 |
| 79 | collagen catabolic process (GO:0030574) | 3.29106091 |
| 80 | regulation of actin filament-based movement (GO:1903115) | 3.26922188 |
| 81 | regulation of cell communication by electrical coupling (GO:0010649) | 3.26805588 |
| 82 | muscle adaptation (GO:0043500) | 3.26278715 |
| 83 | glycogen catabolic process (GO:0005980) | 3.26196761 |
| 84 | striated muscle adaptation (GO:0014888) | 3.26070622 |
| 85 | muscle system process (GO:0003012) | 3.25821507 |
| 86 | glycogen metabolic process (GO:0005977) | 3.23821192 |
| 87 | muscle hypertrophy (GO:0014896) | 3.23386365 |
| 88 | regulation of the force of heart contraction (GO:0002026) | 3.23356892 |
| 89 | embryonic skeletal joint morphogenesis (GO:0060272) | 3.22432730 |
| 90 | cranial suture morphogenesis (GO:0060363) | 3.22094573 |
| 91 | positive regulation of myoblast differentiation (GO:0045663) | 3.21406472 |
| 92 | planar cell polarity pathway involved in neural tube closure (GO:0090179) | 3.19304943 |
| 93 | regulation of branching involved in prostate gland morphogenesis (GO:0060687) | 3.18820319 |
| 94 | peptidyl-proline hydroxylation (GO:0019511) | 3.18638450 |
| 95 | glucan metabolic process (GO:0044042) | 3.15484809 |
| 96 | cellular glucan metabolic process (GO:0006073) | 3.15484809 |
| 97 | regulation of branching involved in salivary gland morphogenesis (GO:0060693) | 3.14570356 |
| 98 | hippo signaling (GO:0035329) | 3.12833483 |
| 99 | myotube differentiation (GO:0014902) | 3.11792805 |
| 100 | muscle cell development (GO:0055001) | 3.10876681 |
| 101 | multicellular organismal macromolecule metabolic process (GO:0044259) | 3.10424391 |
| 102 | regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880) | 3.09606016 |
| 103 | cardiac cell development (GO:0055006) | 3.09492029 |
| 104 | paraxial mesoderm development (GO:0048339) | 3.08906326 |
| 105 | kidney mesenchyme development (GO:0072074) | 3.08119791 |
| 106 | purine nucleotide salvage (GO:0032261) | 3.06142171 |
| 107 | negative regulation of skeletal muscle tissue development (GO:0048642) | 3.05097982 |
| 108 | regulation of skeletal muscle cell differentiation (GO:2001014) | 3.04907158 |
| 109 | regulation of establishment of planar polarity involved in neural tube closure (GO:0090178) | 3.04547124 |
| 110 | carnitine shuttle (GO:0006853) | 3.04543947 |
| 111 | positive regulation of calcium ion transmembrane transporter activity (GO:1901021) | 3.00518248 |
| 112 | glucan catabolic process (GO:0009251) | 2.99991326 |
| 113 | creatine metabolic process (GO:0006600) | 2.97463344 |
| 114 | multicellular organismal catabolic process (GO:0044243) | 2.96984001 |
| 115 | regulation of muscle system process (GO:0090257) | 2.96413871 |
| 116 | dermatan sulfate biosynthetic process (GO:0030208) | 2.94882593 |
| 117 | cardiac myofibril assembly (GO:0055003) | 2.93676281 |
| 118 | 2-oxoglutarate metabolic process (GO:0006103) | 2.92751558 |
| 119 | gluconeogenesis (GO:0006094) | 2.91988766 |
| 120 | cell migration involved in heart development (GO:0060973) | 2.90313855 |
| 121 | multicellular organismal metabolic process (GO:0044236) | 2.90205293 |
| 122 | regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307) | 2.88404730 |
| 123 | fructose metabolic process (GO:0006000) | 2.88332183 |
| 124 | skeletal muscle tissue development (GO:0007519) | 2.88315477 |
| 125 | regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547) | 2.87387604 |
| 126 | regulation of skeletal muscle fiber development (GO:0048742) | 2.87082470 |
| 127 | regulation of sarcomere organization (GO:0060297) | 2.85499099 |
| 128 | organ induction (GO:0001759) | 2.83591873 |
| 129 | negative regulation of cartilage development (GO:0061037) | 2.83400429 |
| 130 | adult heart development (GO:0007512) | 2.82308371 |
| 131 | positive regulation of mesenchymal cell proliferation (GO:0002053) | 2.81642353 |
| 132 | regulation of chondrocyte differentiation (GO:0032330) | 2.81343554 |
| 133 | regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO | 2.79081624 |
| 134 | regulation of cartilage development (GO:0061035) | 2.78577439 |
| 135 | positive regulation of skeletal muscle tissue development (GO:0048643) | 2.77794235 |
| 136 | negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315) | 2.77692272 |
| 137 | muscle cell cellular homeostasis (GO:0046716) | 2.77181563 |
| 138 | extracellular regulation of signal transduction (GO:1900115) | 2.76744125 |
| 139 | extracellular negative regulation of signal transduction (GO:1900116) | 2.76744125 |
| 140 | keratan sulfate catabolic process (GO:0042340) | 2.74781773 |
| 141 | IMP metabolic process (GO:0046040) | 2.74211469 |
| 142 | peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800) | 2.74192590 |
| 143 | regulation of calcium ion transmembrane transporter activity (GO:1901019) | 2.73640452 |
| 144 | regulation of calcium ion transmembrane transport (GO:1903169) | 2.73640452 |
| 145 | striated muscle cell development (GO:0055002) | 2.73499156 |
| 146 | regulation of myotube differentiation (GO:0010830) | 2.73299669 |
| 147 | prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:006052 | 2.73024400 |
| 148 | cellular polysaccharide catabolic process (GO:0044247) | 2.72240929 |
| 149 | positive regulation of cartilage development (GO:0061036) | 2.71925814 |
| 150 | regulation of heart morphogenesis (GO:2000826) | 2.70496758 |
| 151 | dermatan sulfate metabolic process (GO:0030205) | 2.68015218 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 5.17842227 |
| 2 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 4.55630881 |
| 3 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 4.31827260 |
| 4 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 3.40972460 |
| 5 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 3.09518993 |
| 6 | RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 2.90846322 |
| 7 | WT1_19549856_ChIP-ChIP_CCG9911_Human | 2.90826281 |
| 8 | TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 2.66782079 |
| 9 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 2.52364844 |
| 10 | * CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse | 2.49959378 |
| 11 | CJUN_26792858_Chip-Seq_BT549_Human | 2.48437856 |
| 12 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 2.45447461 |
| 13 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 2.39844488 |
| 14 | ESR1_22446102_ChIP-Seq_UTERUS_Mouse | 2.35370984 |
| 15 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 2.21274763 |
| 16 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.18511096 |
| 17 | CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 2.17315197 |
| 18 | CLOCK_20551151_ChIP-Seq_293T_Human | 2.15640084 |
| 19 | * WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 2.14363754 |
| 20 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 2.14030128 |
| 21 | * TP53_20018659_ChIP-ChIP_R1E_Mouse | 2.12824347 |
| 22 | * EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse | 2.12314281 |
| 23 | * BRD4_25478319_ChIP-Seq_HGPS_Human | 2.09827782 |
| 24 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 2.09408101 |
| 25 | EP300_21415370_ChIP-Seq_HL-1_Mouse | 2.06832048 |
| 26 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 2.03287008 |
| 27 | NFE2L2_20460467_ChIP-Seq_MEFs_Mouse | 1.99490006 |
| 28 | NRF2_20460467_ChIP-Seq_MEFs_Mouse | 1.99490006 |
| 29 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.95885102 |
| 30 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.94226692 |
| 31 | MEF2A_21415370_ChIP-Seq_HL-1_Mouse | 1.94126949 |
| 32 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.93397517 |
| 33 | * SMC1_22415368_ChIP-Seq_MEFs_Mouse | 1.86061080 |
| 34 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 1.84064809 |
| 35 | NR1I2_20693526_ChIP-Seq_LIVER_Mouse | 1.83295392 |
| 36 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.82944210 |
| 37 | TBX20_22328084_ChIP-Seq_HEART_Mouse | 1.81480088 |
| 38 | TBX20_22080862_ChIP-Seq_HEART_Mouse | 1.81480088 |
| 39 | * HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse | 1.73339072 |
| 40 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.73212174 |
| 41 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.73097192 |
| 42 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 1.72630017 |
| 43 | * EED_16625203_ChIP-ChIP_MESCs_Mouse | 1.67413850 |
| 44 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 1.65797010 |
| 45 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.65214887 |
| 46 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.64761930 |
| 47 | * RNF2_18974828_ChIP-Seq_MESCs_Mouse | 1.62795698 |
| 48 | * EZH2_18974828_ChIP-Seq_MESCs_Mouse | 1.62795698 |
| 49 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.58286779 |
| 50 | ESR1_15608294_ChIP-ChIP_MCF-7_Human | 1.57186338 |
| 51 | P300_27058665_Chip-Seq_ZR-75-30cells_Human | 1.46923101 |
| 52 | SMAD_19615063_ChIP-ChIP_OVARY_Human | 1.45864005 |
| 53 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 1.45446725 |
| 54 | TCF3_18467660_ChIP-ChIP_MESCs_Mouse | 1.41393191 |
| 55 | * PHC1_16625203_ChIP-ChIP_MESCs_Mouse | 1.40697969 |
| 56 | * EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.38514659 |
| 57 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.35156446 |
| 58 | PPAR_26484153_Chip-Seq_NCI-H1993_Human | 1.35119859 |
| 59 | NKX2-5_21415370_ChIP-Seq_HL-1_Mouse | 1.34906996 |
| 60 | * SMC3_22415368_ChIP-Seq_MEFs_Mouse | 1.34765473 |
| 61 | SMAD2_18955504_ChIP-ChIP_HaCaT_Human | 1.34152519 |
| 62 | SMAD3_18955504_ChIP-ChIP_HaCaT_Human | 1.34152519 |
| 63 | ATF3_23680149_ChIP-Seq_GBM1-GSC_Human | 1.33327646 |
| 64 | SA1_22415368_ChIP-Seq_MEFs_Mouse | 1.33074344 |
| 65 | RXR_22158963_ChIP-Seq_LIVER_Mouse | 1.32854693 |
| 66 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.32649053 |
| 67 | LXR_22158963_ChIP-Seq_LIVER_Mouse | 1.31758432 |
| 68 | UBF1/2_26484160_Chip-Seq_HMECs_Human | 1.31146473 |
| 69 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 1.30151661 |
| 70 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.28311616 |
| 71 | ZFP281_18757296_ChIP-ChIP_E14_Mouse | 1.28155012 |
| 72 | * SUZ12_18692474_ChIP-Seq_MEFs_Mouse | 1.28140517 |
| 73 | RXR_22108803_ChIP-Seq_LS180_Human | 1.27980966 |
| 74 | ELK3_25401928_ChIP-Seq_HUVEC_Human | 1.27660682 |
| 75 | JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.26974791 |
| 76 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 1.26203172 |
| 77 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 1.24674419 |
| 78 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.24011148 |
| 79 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.23272863 |
| 80 | * UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 1.23139098 |
| 81 | TP53_23651856_ChIP-Seq_MEFs_Mouse | 1.23132982 |
| 82 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.23059456 |
| 83 | BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human | 1.22881267 |
| 84 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.22118206 |
| 85 | PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 1.20649573 |
| 86 | * RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 1.20551000 |
| 87 | SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse | 1.20284164 |
| 88 | * TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.19547557 |
| 89 | KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.17145116 |
| 90 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.16786792 |
| 91 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.16260094 |
| 92 | SOX9_24532713_ChIP-Seq_HFSC_Mouse | 1.15957528 |
| 93 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 1.15548041 |
| 94 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.15139085 |
| 95 | ISL1_27105846_Chip-Seq_CPCs_Mouse | 1.14558809 |
| 96 | ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 1.14546515 |
| 97 | * JARID2_20075857_ChIP-Seq_MESCs_Mouse | 1.14425643 |
| 98 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.12987711 |
| 99 | TP53_22127205_ChIP-Seq_IMR90_Human | 1.12414648 |
| 100 | * SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 1.11671154 |
| 101 | PPARA_22158963_ChIP-Seq_LIVER_Mouse | 1.11579991 |
| 102 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.11504238 |
| 103 | * SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 1.09529266 |
| 104 | P63_26484246_Chip-Seq_KERATINOCYTES_Human | 1.09430107 |
| 105 | TP53_16413492_ChIP-PET_HCT116_Human | 1.08904373 |
| 106 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 1.08899896 |
| 107 | ATF3_27146783_Chip-Seq_COLON_Human | 1.08877462 |
| 108 | JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.08077816 |
| 109 | NR3C1_23031785_ChIP-Seq_PC12_Mouse | 1.07487576 |
| 110 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 1.06526969 |
| 111 | NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 1.05787157 |
| 112 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.03538083 |
| 113 | * TRIM28_17542650_ChIP-ChIP_NTERA2_Human | 1.02402006 |
| 114 | * SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 1.02354385 |
| 115 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 1.01991931 |
| 116 | GATA2_21666600_ChIP-Seq_HMVEC_Human | 1.01472862 |
| 117 | EGR1_23403033_ChIP-Seq_LIVER_Mouse | 1.00966326 |
| 118 | * MTF2_20144788_ChIP-Seq_MESCs_Mouse | 0.98078617 |
| 119 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 0.95770458 |
| 120 | GATA4_21415370_ChIP-Seq_HL-1_Mouse | 0.95447298 |
| 121 | RACK7_27058665_Chip-Seq_MCF-7_Human | 0.95081166 |
| 122 | DMRT1_23473982_ChIP-Seq_TESTES_Mouse | 0.94828406 |
| 123 | ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.94689151 |
| 124 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 0.94123592 |
| 125 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 0.93203645 |
| 126 | ZIC3_20872845_ChIP-ChIP_MESCs_Mouse | 0.92975316 |
| 127 | NANOG_16153702_ChIP-ChIP_HESCs_Human | 0.92860383 |
| 128 | STAT3_19079543_ChIP-ChIP_MESCs_Mouse | 0.92146918 |
| 129 | * NFI_21473784_ChIP-Seq_ESCs_Mouse | 0.91185002 |
| 130 | KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.90489785 |
| 131 | PPARG_20887899_ChIP-Seq_3T3-L1_Mouse | 0.90089029 |
| 132 | ZFP281_27345836_Chip-Seq_ESCs_Mouse | 0.89234186 |
| 133 | * RNF2_27304074_Chip-Seq_ESCs_Mouse | 0.88318219 |
| 134 | CREB1_26743006_Chip-Seq_LNCaP-abl_Human | 0.87569419 |
| 135 | CTNNB1_20460455_ChIP-Seq_HCT116_Human | 0.87533596 |
| 136 | MYC_27129775_Chip-Seq_CORNEA_Mouse | 0.83706355 |
| 137 | SALL4_18804426_ChIP-ChIP_XEN_Mouse | 0.83129323 |
| 138 | SOX9_26525672_Chip-Seq_Limbbuds_Mouse | 0.82727030 |
| 139 | * NR3C1_21868756_ChIP-Seq_MCF10A_Human | 0.81596989 |
| 140 | * SMAD4_21799915_ChIP-Seq_A2780_Human | 0.80600265 |
| 141 | KDM2B_26808549_Chip-Seq_REH_Human | 0.80474706 |
| 142 | FOXM1_26456572_ChIP-Seq_MCF-7_Human | 0.79883481 |
| 143 | ZNF263_19887448_ChIP-Seq_K562_Human | 0.78616200 |
| 144 | * SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 0.78449203 |
| 145 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 0.78421340 |
| 146 | SMAD3_22036565_ChIP-Seq_ESCs_Mouse | 0.78346363 |
| 147 | * CBX2_27304074_Chip-Seq_ESCs_Mouse | 0.78019091 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0008438_abnormal_cutaneous_collagen | 5.54237384 |
| 2 | MP0004145_abnormal_muscle_electrophysio | 4.77334051 |
| 3 | MP0005503_abnormal_tendon_morphology | 4.64364475 |
| 4 | MP0005275_abnormal_skin_tensile | 4.07731966 |
| 5 | MP0000749_muscle_degeneration | 3.99550244 |
| 6 | MP0000751_myopathy | 3.95493549 |
| 7 | MP0003705_abnormal_hypodermis_morpholog | 3.17091540 |
| 8 | MP0000733_abnormal_muscle_development | 2.99190756 |
| 9 | MP0000750_abnormal_muscle_regeneration | 2.88319680 |
| 10 | MP0000747_muscle_weakness | 2.87314984 |
| 11 | MP0003646_muscle_fatigue | 2.78819778 |
| 12 | MP0002108_abnormal_muscle_morphology | 2.73131476 |
| 13 | * MP0000759_abnormal_skeletal_muscle | 2.72975026 |
| 14 | MP0002106_abnormal_muscle_physiology | 2.68545593 |
| 15 | MP0005369_muscle_phenotype | 2.54971185 |
| 16 | MP0004233_abnormal_muscle_weight | 2.41024978 |
| 17 | MP0004087_abnormal_muscle_fiber | 2.32308060 |
| 18 | MP0003279_aneurysm | 2.16881768 |
| 19 | * MP0009250_abnormal_appendicular_skeleto | 2.13772467 |
| 20 | MP0002269_muscular_atrophy | 2.06212882 |
| 21 | MP0010030_abnormal_orbit_morphology | 2.01940120 |
| 22 | MP0005257_abnormal_intraocular_pressure | 1.99918724 |
| 23 | MP0004134_abnormal_chest_morphology | 1.97505298 |
| 24 | MP0004036_abnormal_muscle_relaxation | 1.97335566 |
| 25 | MP0009780_abnormal_chondrocyte_physiolo | 1.96035731 |
| 26 | MP0005451_abnormal_body_composition | 1.89374338 |
| 27 | MP0003385_abnormal_body_wall | 1.79449488 |
| 28 | MP0005620_abnormal_muscle_contractility | 1.78820221 |
| 29 | MP0004272_abnormal_basement_membrane | 1.73347337 |
| 30 | MP0002837_dystrophic_cardiac_calcinosis | 1.73156110 |
| 31 | MP0005623_abnormal_meninges_morphology | 1.67959582 |
| 32 | MP0001958_emphysema | 1.65133311 |
| 33 | * MP0005508_abnormal_skeleton_morphology | 1.61977574 |
| 34 | MP0009053_abnormal_anal_canal | 1.59811332 |
| 35 | MP0009384_cardiac_valve_regurgitation | 1.54259576 |
| 36 | * MP0001299_abnormal_eye_distance/ | 1.50096520 |
| 37 | MP0002896_abnormal_bone_mineralization | 1.48727621 |
| 38 | MP0000762_abnormal_tongue_morphology | 1.41500976 |
| 39 | MP0001243_abnormal_dermal_layer | 1.39846885 |
| 40 | MP0004130_abnormal_muscle_cell | 1.39542055 |
| 41 | MP0001661_extended_life_span | 1.39132141 |
| 42 | MP0010352_gastrointestinal_tract_polyps | 1.34896371 |
| 43 | MP0004215_abnormal_myocardial_fiber | 1.34048954 |
| 44 | MP0002060_abnormal_skin_morphology | 1.33717925 |
| 45 | MP0003755_abnormal_palate_morphology | 1.32319525 |
| 46 | MP0002932_abnormal_joint_morphology | 1.31119127 |
| 47 | MP0004270_analgesia | 1.25522591 |
| 48 | MP0004510_myositis | 1.24775428 |
| 49 | MP0003941_abnormal_skin_development | 1.23063911 |
| 50 | * MP0002115_abnormal_skeleton_extremities | 1.22656179 |
| 51 | MP0006054_spinal_hemorrhage | 1.17726870 |
| 52 | MP0006138_congestive_heart_failure | 1.14140175 |
| 53 | MP0005023_abnormal_wound_healing | 1.13206347 |
| 54 | * MP0000163_abnormal_cartilage_morphology | 1.11334506 |
| 55 | MP0003950_abnormal_plasma_membrane | 1.10256251 |
| 56 | MP0001544_abnormal_cardiovascular_syste | 1.10106009 |
| 57 | MP0005385_cardiovascular_system_phenoty | 1.10106009 |
| 58 | MP0002282_abnormal_trachea_morphology | 1.09387916 |
| 59 | MP0002127_abnormal_cardiovascular_syste | 1.09135942 |
| 60 | MP0006036_abnormal_mitochondrial_physio | 1.08340337 |
| 61 | MP0003942_abnormal_urinary_system | 1.07814887 |
| 62 | MP0005076_abnormal_cell_differentiation | 1.06907796 |
| 63 | MP0000013_abnormal_adipose_tissue | 1.04784412 |
| 64 | MP0003828_pulmonary_edema | 1.03415128 |
| 65 | * MP0002109_abnormal_limb_morphology | 1.03149998 |
| 66 | MP0004185_abnormal_adipocyte_glucose | 1.02469460 |
| 67 | MP0003566_abnormal_cell_adhesion | 1.02374450 |
| 68 | MP0000049_abnormal_middle_ear | 1.01716469 |
| 69 | MP0001542_abnormal_bone_strength | 1.00009178 |
| 70 | MP0001346_abnormal_lacrimal_gland | 0.99455278 |
| 71 | MP0005266_abnormal_metabolism | 0.98970193 |
| 72 | * MP0000428_abnormal_craniofacial_morphol | 0.97785691 |
| 73 | MP0005330_cardiomyopathy | 0.97700301 |
| 74 | * MP0002114_abnormal_axial_skeleton | 0.97261357 |
| 75 | MP0002249_abnormal_larynx_morphology | 0.96814452 |
| 76 | MP0003091_abnormal_cell_migration | 0.95142342 |
| 77 | MP0004084_abnormal_cardiac_muscle | 0.94790580 |
| 78 | MP0008775_abnormal_heart_ventricle | 0.94441889 |
| 79 | MP0005670_abnormal_white_adipose | 0.93034858 |
| 80 | * MP0002113_abnormal_skeleton_development | 0.92418691 |
| 81 | MP0000767_abnormal_smooth_muscle | 0.91597461 |
| 82 | MP0000003_abnormal_adipose_tissue | 0.90481313 |
| 83 | MP0002332_abnormal_exercise_endurance | 0.87213425 |
| 84 | MP0010630_abnormal_cardiac_muscle | 0.86067695 |
| 85 | MP0002089_abnormal_postnatal_growth/wei | 0.86034187 |
| 86 | * MP0003937_abnormal_limbs/digits/tail_de | 0.85893290 |
| 87 | MP0002971_abnormal_brown_adipose | 0.85140601 |
| 88 | MP0001348_abnormal_lacrimal_gland | 0.85020236 |
| 89 | * MP0002116_abnormal_craniofacial_bone | 0.83732723 |
| 90 | MP0002877_abnormal_melanocyte_morpholog | 0.82841373 |
| 91 | MP0010368_abnormal_lymphatic_system | 0.82785762 |
| 92 | MP0005375_adipose_tissue_phenotype | 0.82080068 |
| 93 | MP0000534_abnormal_ureter_morphology | 0.80501374 |
| 94 | * MP0005390_skeleton_phenotype | 0.79317307 |
| 95 | MP0000537_abnormal_urethra_morphology | 0.78862465 |
| 96 | MP0003045_fibrosis | 0.76683883 |
| 97 | * MP0000432_abnormal_head_morphology | 0.76036193 |
| 98 | MP0005187_abnormal_penis_morphology | 0.74616358 |
| 99 | MP0002933_joint_inflammation | 0.74131276 |
| 100 | MP0002234_abnormal_pharynx_morphology | 0.74009539 |
| 101 | MP0003935_abnormal_craniofacial_develop | 0.72769154 |
| 102 | MP0000516_abnormal_urinary_system | 0.72246007 |
| 103 | MP0005367_renal/urinary_system_phenotyp | 0.72246007 |
| 104 | MP0005666_abnormal_adipose_tissue | 0.71208757 |
| 105 | MP0002295_abnormal_pulmonary_circulatio | 0.69701991 |
| 106 | MP0004484_altered_response_of | 0.69218544 |
| 107 | MP0002972_abnormal_cardiac_muscle | 0.68792487 |
| 108 | MP0003221_abnormal_cardiomyocyte_apopto | 0.68038425 |
| 109 | MP0004197_abnormal_fetal_growth/weight/ | 0.67902902 |
| 110 | MP0002168_other_aberrant_phenotype | 0.67802405 |
| 111 | MP0001849_ear_inflammation | 0.67030240 |
| 112 | MP0003959_abnormal_lean_body | 0.65986990 |
| 113 | MP0003137_abnormal_impulse_conducting | 0.65557514 |
| 114 | MP0000579_abnormal_nail_morphology | 0.65351776 |
| 115 | MP0002233_abnormal_nose_morphology | 0.65103009 |
| 116 | MP0003283_abnormal_digestive_organ | 0.62255707 |
| 117 | MP0002111_abnormal_tail_morphology | 0.61935711 |
| 118 | MP0005248_abnormal_Harderian_gland | 0.60341678 |
| 119 | MP0002876_abnormal_thyroid_physiology | 0.60086773 |
| 120 | MP0003115_abnormal_respiratory_system | 0.58744652 |
| 121 | MP0002128_abnormal_blood_circulation | 0.57911341 |
| 122 | MP0001879_abnormal_lymphatic_vessel | 0.56322651 |
| 123 | MP0000266_abnormal_heart_morphology | 0.56276145 |
| 124 | MP0005595_abnormal_vascular_smooth | 0.56173805 |
| 125 | MP0003011_delayed_dark_adaptation | 0.45859684 |
| 126 | MP0005360_urolithiasis | 0.45322915 |
| 127 | MP0005165_increased_susceptibility_to | 0.45126944 |
| 128 | MP0003879_abnormal_hair_cell | 0.44753698 |
| 129 | MP0004085_abnormal_heartbeat | 0.44579264 |
| 130 | MP0003191_abnormal_cellular_cholesterol | 0.43148814 |
| 131 | MP0000230_abnormal_systemic_arterial | 0.39671885 |
| 132 | MP0005171_absent_coat_pigmentation | 0.38812691 |
| 133 | MP0005083_abnormal_biliary_tract | 0.38566971 |
| 134 | MP0005452_abnormal_adipose_tissue | 0.36933873 |
| 135 | MP0004858_abnormal_nervous_system | 0.35544684 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Muscle fiber inclusion bodies (HP:0100299) | 7.56562398 |
| 2 | Type 1 muscle fiber predominance (HP:0003803) | 7.52587790 |
| 3 | Muscle fiber cytoplasmatic inclusion bodies (HP:0100303) | 7.40815005 |
| 4 | Nemaline bodies (HP:0003798) | 6.82692781 |
| 5 | Distal arthrogryposis (HP:0005684) | 6.27574580 |
| 6 | Round ear (HP:0100830) | 5.95601581 |
| 7 | Exercise-induced myalgia (HP:0003738) | 5.40695184 |
| 8 | Calcaneovalgus deformity (HP:0001848) | 5.18256714 |
| 9 | Exercise-induced muscle cramps (HP:0003710) | 5.14014085 |
| 10 | Ulnar deviation of the wrist (HP:0003049) | 5.12081875 |
| 11 | Deformed tarsal bones (HP:0008119) | 4.87843613 |
| 12 | Myopathic facies (HP:0002058) | 4.87362820 |
| 13 | Protrusio acetabuli (HP:0003179) | 4.84270309 |
| 14 | Premature rupture of membranes (HP:0001788) | 4.62104518 |
| 15 | Increased connective tissue (HP:0009025) | 4.47307319 |
| 16 | Muscle hypertrophy of the lower extremities (HP:0008968) | 4.46645953 |
| 17 | Muscle fiber splitting (HP:0003555) | 4.20623118 |
| 18 | Calf muscle hypertrophy (HP:0008981) | 4.05213289 |
| 19 | * Absent phalangeal crease (HP:0006109) | 4.03567663 |
| 20 | Difficulty running (HP:0009046) | 3.95001701 |
| 21 | Abnormality of skeletal muscle fiber size (HP:0012084) | 3.82949835 |
| 22 | Slender build (HP:0001533) | 3.71030578 |
| 23 | Centrally nucleated skeletal muscle fibers (HP:0003687) | 3.68841642 |
| 24 | Increased variability in muscle fiber diameter (HP:0003557) | 3.64677760 |
| 25 | Popliteal pterygium (HP:0009756) | 3.61464255 |
| 26 | Abnormality of the calcaneus (HP:0008364) | 3.59759232 |
| 27 | Hyporeflexia of lower limbs (HP:0002600) | 3.48584497 |
| 28 | Type 2 muscle fiber atrophy (HP:0003554) | 3.44156032 |
| 29 | Weak cry (HP:0001612) | 3.39203058 |
| 30 | Abnormality of the calf musculature (HP:0001430) | 3.38134005 |
| 31 | Spinal rigidity (HP:0003306) | 3.35977584 |
| 32 | EMG: myopathic abnormalities (HP:0003458) | 3.32119010 |
| 33 | * Abnormal finger flexion creases (HP:0006143) | 3.23512804 |
| 34 | Malignant hyperthermia (HP:0002047) | 3.23334347 |
| 35 | Shallow orbits (HP:0000586) | 3.23016602 |
| 36 | Difficulty climbing stairs (HP:0003551) | 3.19251815 |
| 37 | Mildly elevated creatine phosphokinase (HP:0008180) | 3.18467336 |
| 38 | Muscle fiber atrophy (HP:0100295) | 3.04939062 |
| 39 | Broad metatarsal (HP:0001783) | 2.93547436 |
| 40 | Myotonia (HP:0002486) | 2.89977777 |
| 41 | Muscle stiffness (HP:0003552) | 2.87828677 |
| 42 | Myoglobinuria (HP:0002913) | 2.82004955 |
| 43 | Ankle contracture (HP:0006466) | 2.78851077 |
| 44 | Asymmetric septal hypertrophy (HP:0001670) | 2.76417248 |
| 45 | Aortic dissection (HP:0002647) | 2.74588630 |
| 46 | Sudden death (HP:0001699) | 2.72517665 |
| 47 | Pelvic girdle muscle weakness (HP:0003749) | 2.69502249 |
| 48 | Atrophic scars (HP:0001075) | 2.65554234 |
| 49 | Peritonitis (HP:0002586) | 2.62292112 |
| 50 | Shoulder girdle muscle weakness (HP:0003547) | 2.60160935 |
| 51 | Hip contracture (HP:0003273) | 2.59614228 |
| 52 | Abnormality of the musculature of the pelvis (HP:0001469) | 2.57181762 |
| 53 | Abnormality of the hip-girdle musculature (HP:0001445) | 2.57181762 |
| 54 | Abnormality of placental membranes (HP:0011409) | 2.54511959 |
| 55 | Amniotic constriction ring (HP:0009775) | 2.54511959 |
| 56 | Soft skin (HP:0000977) | 2.53201422 |
| 57 | Breech presentation (HP:0001623) | 2.52269741 |
| 58 | Neck muscle weakness (HP:0000467) | 2.49972010 |
| 59 | Scapular winging (HP:0003691) | 2.46670696 |
| 60 | Lipoatrophy (HP:0100578) | 2.44393429 |
| 61 | Limb-girdle muscle weakness (HP:0003325) | 2.44385082 |
| 62 | Tarsal synostosis (HP:0008368) | 2.42174875 |
| 63 | Aplasia of the musculature (HP:0100854) | 2.41915332 |
| 64 | Neonatal short-limb short stature (HP:0008921) | 2.38601473 |
| 65 | Increased density of long bones (HP:0006392) | 2.38577476 |
| 66 | EMG: neuropathic changes (HP:0003445) | 2.38408444 |
| 67 | Nonprogressive disorder (HP:0003680) | 2.37521010 |
| 68 | Follicular hyperkeratosis (HP:0007502) | 2.36995071 |
| 69 | Fragile skin (HP:0001030) | 2.33715401 |
| 70 | Frequent falls (HP:0002359) | 2.33383691 |
| 71 | Rhabdomyolysis (HP:0003201) | 2.32179080 |
| 72 | Abnormality of the left ventricular outflow tract (HP:0011103) | 2.31043728 |
| 73 | Subaortic stenosis (HP:0001682) | 2.31043728 |
| 74 | Respiratory insufficiency due to muscle weakness (HP:0002747) | 2.26835299 |
| 75 | Distal lower limb amyotrophy (HP:0008944) | 2.25869182 |
| 76 | Metatarsus adductus (HP:0001840) | 2.25738636 |
| 77 | Ulnar deviation of finger (HP:0009465) | 2.25518867 |
| 78 | Bundle branch block (HP:0011710) | 2.24727765 |
| 79 | Fatigable weakness (HP:0003473) | 2.21063023 |
| 80 | Abnormality of the neuromuscular junction (HP:0003398) | 2.21063023 |
| 81 | Dilated cardiomyopathy (HP:0001644) | 2.19722657 |
| 82 | Easy fatigability (HP:0003388) | 2.18346132 |
| 83 | Synostosis involving bones of the lower limbs (HP:0009138) | 2.15256569 |
| 84 | Synostosis involving bones of the feet (HP:0009140) | 2.15256569 |
| 85 | Cervical subluxation (HP:0003308) | 2.12406446 |
| 86 | Genu recurvatum (HP:0002816) | 2.09455501 |
| 87 | Rimmed vacuoles (HP:0003805) | 2.08093139 |
| 88 | Abnormality of dentin (HP:0010299) | 2.03874969 |
| 89 | Hyperkalemia (HP:0002153) | 2.03004730 |
| 90 | Abnormality of the shoulder girdle musculature (HP:0001435) | 2.02367336 |
| 91 | Dilatation of the ascending aorta (HP:0005111) | 2.01543798 |
| 92 | Mitral valve prolapse (HP:0001634) | 2.00374122 |
| 93 | Limited hip movement (HP:0008800) | 2.00121605 |
| 94 | Bladder diverticulum (HP:0000015) | 1.96255648 |
| 95 | Cerebral aneurysm (HP:0004944) | 1.94255494 |
| 96 | Abnormal delivery (HP:0001787) | 1.93920421 |
| 97 | Distal lower limb muscle weakness (HP:0009053) | 1.93543062 |
| 98 | Aortic aneurysm (HP:0004942) | 1.93173284 |
| 99 | Areflexia of lower limbs (HP:0002522) | 1.92958874 |
| 100 | Waddling gait (HP:0002515) | 1.91769728 |
| 101 | Ventricular tachycardia (HP:0004756) | 1.91277259 |
| 102 | Muscular dystrophy (HP:0003560) | 1.88502023 |
| 103 | Fetal akinesia sequence (HP:0001989) | 1.86251583 |
| 104 | Infantile muscular hypotonia (HP:0008947) | 1.84422311 |
| 105 | Blue sclerae (HP:0000592) | 1.84087378 |
| 106 | Delayed gross motor development (HP:0002194) | 1.83066854 |
| 107 | * Hypoplastic ischia (HP:0003175) | 1.82947892 |
| 108 | Elbow flexion contracture (HP:0002987) | 1.82820732 |
| 109 | Knee flexion contracture (HP:0006380) | 1.81140685 |
| 110 | Generalized muscle weakness (HP:0003324) | 1.79209154 |
| 111 | * Abnormality of the ischium (HP:0003174) | 1.79023903 |
| 112 | Achilles tendon contracture (HP:0001771) | 1.77794624 |
| 113 | Gowers sign (HP:0003391) | 1.75038413 |
| 114 | Ulnar deviation of the hand or of fingers of the hand (HP:0001193) | 1.72859003 |
| 115 | Congenital hip dislocation (HP:0001374) | 1.71990782 |
| 116 | Lower limb amyotrophy (HP:0007210) | 1.69558073 |
| 117 | Short 4th metacarpal (HP:0010044) | 1.69312605 |
| 118 | Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042) | 1.69312605 |
| 119 | Limb-girdle muscle atrophy (HP:0003797) | 1.69145695 |
| 120 | Bulbar palsy (HP:0001283) | 1.69144822 |
| 121 | Proximal amyotrophy (HP:0007126) | 1.67865882 |
| 122 | Thin ribs (HP:0000883) | 1.65863190 |
| 123 | Pterygium (HP:0001059) | 1.63455708 |
| 124 | Reduced subcutaneous adipose tissue (HP:0003758) | 1.60667890 |
| 125 | Abnormality of the foot musculature (HP:0001436) | 1.52635631 |
| 126 | Hypoalphalipoproteinemia (HP:0003233) | 1.49203300 |
| 127 | Generalized amyotrophy (HP:0003700) | 1.48848250 |
| 128 | Foot dorsiflexor weakness (HP:0009027) | 1.47453270 |
| 129 | Vascular tortuosity (HP:0004948) | 1.46245845 |
| 130 | Heart block (HP:0012722) | 1.43798950 |
| 131 | Progressive muscle weakness (HP:0003323) | 1.42615206 |
| 132 | Oligomenorrhea (HP:0000876) | 1.41085296 |
| 133 | Abnormal atrioventricular conduction (HP:0005150) | 1.40745178 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TTN | 6.56539624 |
| 2 | OBSCN | 6.35442804 |
| 3 | DDR2 | 4.19330260 |
| 4 | PIK3CG | 3.68658049 |
| 5 | PHKG1 | 3.55908545 |
| 6 | PHKG2 | 3.55908545 |
| 7 | TRIB3 | 3.34841276 |
| 8 | NME1 | 2.76639319 |
| 9 | LATS1 | 2.43433402 |
| 10 | PDGFRA | 2.24614305 |
| 11 | MAP2K3 | 2.11580049 |
| 12 | LATS2 | 2.09356719 |
| 13 | SIK1 | 2.05856955 |
| 14 | PIK3CA | 1.87308240 |
| 15 | NEK1 | 1.77421834 |
| 16 | DMPK | 1.70932099 |
| 17 | MOS | 1.49329968 |
| 18 | MAP3K7 | 1.47250134 |
| 19 | PKN2 | 1.43599192 |
| 20 | NEK9 | 1.38946962 |
| 21 | MYLK | 1.32017978 |
| 22 | TRPM7 | 1.25033046 |
| 23 | EPHB2 | 1.23911589 |
| 24 | ERBB3 | 1.23118700 |
| 25 | FER | 1.21294288 |
| 26 | FGFR1 | 1.20307305 |
| 27 | PDK4 | 1.18869810 |
| 28 | PDK3 | 1.18869810 |
| 29 | BMX | 1.18513207 |
| 30 | CCNB1 | 1.09833129 |
| 31 | MAP3K12 | 1.06195071 |
| 32 | MAPK12 | 1.04276307 |
| 33 | EPHA3 | 1.03968084 |
| 34 | STK3 | 1.03375732 |
| 35 | PAK2 | 1.02200346 |
| 36 | MUSK | 1.00591397 |
| 37 | MAP3K3 | 0.95645214 |
| 38 | RIPK1 | 0.95413891 |
| 39 | ZAK | 0.90311627 |
| 40 | TAOK2 | 0.86712193 |
| 41 | PTK6 | 0.83242889 |
| 42 | LIMK1 | 0.79874510 |
| 43 | PTK2 | 0.76713784 |
| 44 | PDK2 | 0.74936214 |
| 45 | FGFR2 | 0.73616534 |
| 46 | ILK | 0.72692989 |
| 47 | ROCK1 | 0.71785010 |
| 48 | MTOR | 0.69163854 |
| 49 | PAK3 | 0.68667289 |
| 50 | MAP2K1 | 0.65829027 |
| 51 | PIM2 | 0.64875116 |
| 52 | TIE1 | 0.63614215 |
| 53 | MARK1 | 0.62943379 |
| 54 | PKN1 | 0.62602845 |
| 55 | MAP2K4 | 0.62153780 |
| 56 | ERN1 | 0.60060479 |
| 57 | MAP3K10 | 0.57194508 |
| 58 | LRRK2 | 0.56470395 |
| 59 | TGFBR2 | 0.54879355 |
| 60 | PRKAA2 | 0.54873300 |
| 61 | CAMK2D | 0.54605518 |
| 62 | AKT2 | 0.54060967 |
| 63 | STK38L | 0.54046527 |
| 64 | PAK4 | 0.53501490 |
| 65 | PDGFRB | 0.53075017 |
| 66 | EPHB1 | 0.52151378 |
| 67 | EEF2K | 0.52112728 |
| 68 | PTK2B | 0.50761911 |
| 69 | RPS6KA4 | 0.47684886 |
| 70 | EIF2AK3 | 0.46634542 |
| 71 | PINK1 | 0.44757108 |
| 72 | MET | 0.44051860 |
| 73 | MELK | 0.42676577 |
| 74 | TBK1 | 0.42169744 |
| 75 | MAPK4 | 0.41691363 |
| 76 | CDK6 | 0.41044664 |
| 77 | CDK12 | 0.39613342 |
| 78 | BCKDK | 0.39507481 |
| 79 | STK24 | 0.38245675 |
| 80 | TAOK1 | 0.37926155 |
| 81 | PRKAA1 | 0.37453246 |
| 82 | SGK3 | 0.37253881 |
| 83 | ROCK2 | 0.36725988 |
| 84 | MAP2K6 | 0.35867495 |
| 85 | CAMK2B | 0.35548634 |
| 86 | DYRK1B | 0.34219661 |
| 87 | CAMK1 | 0.32591765 |
| 88 | DAPK3 | 0.32370099 |
| 89 | NLK | 0.32369753 |
| 90 | AKT3 | 0.31578467 |
| 91 | CAMK4 | 0.30210097 |
| 92 | CAMK2A | 0.30007833 |
| 93 | CDK8 | 0.28732055 |
| 94 | SGK2 | 0.28662600 |
| 95 | PLK2 | 0.28395978 |
| 96 | ABL2 | 0.28357190 |
| 97 | PRKD1 | 0.28298880 |
| 98 | MAPK11 | 0.27753281 |
| 99 | NME2 | 0.26331242 |
| 100 | RPS6KB2 | 0.26133599 |
| 101 | MAPK7 | 0.26086688 |
| 102 | TYK2 | 0.25332502 |
| 103 | MAP3K13 | 0.24732291 |
| 104 | WNK1 | 0.23017859 |
| 105 | INSR | 0.22834561 |
| 106 | MAPKAPK5 | 0.22729238 |
| 107 | MAP3K5 | 0.22460677 |
| 108 | CAMK1G | 0.22447311 |
| 109 | FGFR3 | 0.22062522 |
| 110 | FRK | 0.22051689 |
| 111 | ADRBK1 | 0.22014474 |
| 112 | CDC42BPA | 0.21412690 |
| 113 | PRKACA | 0.19889851 |
| 114 | MAP3K8 | 0.19353927 |
| 115 | ICK | 0.19302292 |
| 116 | PRKD2 | 0.17907570 |
| 117 | MAPKAPK3 | 0.17714630 |
| 118 | JAK1 | 0.17244307 |
| 119 | RPS6KA3 | 0.16964035 |
| 120 | CAMK2G | 0.16280639 |
| 121 | MAPK13 | 0.16232543 |
| 122 | GRK7 | 0.16004719 |
| 123 | CAMK1D | 0.15990080 |
| 124 | GSK3A | 0.15699400 |
| 125 | PRKG1 | 0.14964690 |
| 126 | RPS6KB1 | 0.13861931 |
| 127 | PAK6 | 0.13497821 |
| 128 | RET | 0.12750953 |
| 129 | MAPK1 | 0.12589029 |
| 130 | MARK2 | 0.12292173 |
| 131 | MAPK8 | 0.12242757 |
| 132 | KSR1 | 0.11918039 |
| 133 | MAPK10 | 0.11321814 |
| 134 | PRKACB | 0.11247406 |
| 135 | PDPK1 | 0.10771761 |
| 136 | MAP3K6 | 0.10412463 |
| 137 | SGK1 | 0.09991588 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 4.09935708 |
| 2 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 3.90524903 |
| 3 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 3.58968832 |
| 4 | ECM-receptor interaction_Homo sapiens_hsa04512 | 3.53010188 |
| 5 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 3.45897721 |
| 6 | Focal adhesion_Homo sapiens_hsa04510 | 3.04132401 |
| 7 | Basal cell carcinoma_Homo sapiens_hsa05217 | 2.25508251 |
| 8 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 2.25414762 |
| 9 | Protein digestion and absorption_Homo sapiens_hsa04974 | 2.08228233 |
| 10 | Adherens junction_Homo sapiens_hsa04520 | 2.07995689 |
| 11 | Arginine biosynthesis_Homo sapiens_hsa00220 | 2.00385626 |
| 12 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.88259995 |
| 13 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.81269751 |
| 14 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.73962587 |
| 15 | Tight junction_Homo sapiens_hsa04530 | 1.73218099 |
| 16 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.73164375 |
| 17 | Amoebiasis_Homo sapiens_hsa05146 | 1.70019236 |
| 18 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 1.68692500 |
| 19 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 1.68311936 |
| 20 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 1.68277578 |
| 21 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 1.66855278 |
| 22 | Hippo signaling pathway_Homo sapiens_hsa04390 | 1.65704803 |
| 23 | Viral myocarditis_Homo sapiens_hsa05416 | 1.62437566 |
| 24 | Insulin signaling pathway_Homo sapiens_hsa04910 | 1.62052435 |
| 25 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.61899329 |
| 26 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 1.60425802 |
| 27 | Malaria_Homo sapiens_hsa05144 | 1.58290637 |
| 28 | Bladder cancer_Homo sapiens_hsa05219 | 1.57392939 |
| 29 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 1.55848170 |
| 30 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 1.54807886 |
| 31 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.52072098 |
| 32 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.50030225 |
| 33 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 1.48745650 |
| 34 | Melanoma_Homo sapiens_hsa05218 | 1.46398109 |
| 35 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 1.46305846 |
| 36 | Insulin resistance_Homo sapiens_hsa04931 | 1.38348063 |
| 37 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 1.38311650 |
| 38 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 1.35763236 |
| 39 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.31791568 |
| 40 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 1.30568967 |
| 41 | AMPK signaling pathway_Homo sapiens_hsa04152 | 1.29600358 |
| 42 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 1.25322567 |
| 43 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 1.25310954 |
| 44 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 1.22947416 |
| 45 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 1.18238288 |
| 46 | Wnt signaling pathway_Homo sapiens_hsa04310 | 1.17494593 |
| 47 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 1.16680864 |
| 48 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 1.16673105 |
| 49 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 1.16632929 |
| 50 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.16349898 |
| 51 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.15711205 |
| 52 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 1.12669428 |
| 53 | Circadian rhythm_Homo sapiens_hsa04710 | 1.12350628 |
| 54 | Small cell lung cancer_Homo sapiens_hsa05222 | 1.12088458 |
| 55 | FoxO signaling pathway_Homo sapiens_hsa04068 | 1.10489981 |
| 56 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.06960979 |
| 57 | mTOR signaling pathway_Homo sapiens_hsa04150 | 1.04130986 |
| 58 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 0.97602756 |
| 59 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.96514750 |
| 60 | Glioma_Homo sapiens_hsa05214 | 0.96121213 |
| 61 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.95474445 |
| 62 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.95332646 |
| 63 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.93062274 |
| 64 | Prostate cancer_Homo sapiens_hsa05215 | 0.92786641 |
| 65 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.90920872 |
| 66 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.89513018 |
| 67 | Platelet activation_Homo sapiens_hsa04611 | 0.88700329 |
| 68 | Pathways in cancer_Homo sapiens_hsa05200 | 0.88518892 |
| 69 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.87913902 |
| 70 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.87721715 |
| 71 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.87357568 |
| 72 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.85522930 |
| 73 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.85052390 |
| 74 | HTLV-I infection_Homo sapiens_hsa05166 | 0.81853259 |
| 75 | Renal cell carcinoma_Homo sapiens_hsa05211 | 0.81167672 |
| 76 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.79511015 |
| 77 | Alzheimers disease_Homo sapiens_hsa05010 | 0.79484395 |
| 78 | Melanogenesis_Homo sapiens_hsa04916 | 0.79392440 |
| 79 | Galactose metabolism_Homo sapiens_hsa00052 | 0.74074682 |
| 80 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.73555846 |
| 81 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.72800911 |
| 82 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.72669089 |
| 83 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.72043196 |
| 84 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.71400750 |
| 85 | Axon guidance_Homo sapiens_hsa04360 | 0.69568449 |
| 86 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 0.67307444 |
| 87 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.66884064 |
| 88 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.66293732 |
| 89 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.66240771 |
| 90 | TNF signaling pathway_Homo sapiens_hsa04668 | 0.65666292 |
| 91 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.64415076 |
| 92 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.63241060 |
| 93 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.60890899 |
| 94 | Renin secretion_Homo sapiens_hsa04924 | 0.60307625 |
| 95 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.60079779 |
| 96 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.59434760 |
| 97 | Colorectal cancer_Homo sapiens_hsa05210 | 0.55626306 |
| 98 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.55499513 |
| 99 | Carbon metabolism_Homo sapiens_hsa01200 | 0.55272803 |
| 100 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.54518088 |
| 101 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.53965646 |
| 102 | Parkinsons disease_Homo sapiens_hsa05012 | 0.53070184 |
| 103 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.51122133 |
| 104 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.48643742 |
| 105 | Shigellosis_Homo sapiens_hsa05131 | 0.47748521 |
| 106 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.47282082 |
| 107 | Gap junction_Homo sapiens_hsa04540 | 0.46566696 |
| 108 | Histidine metabolism_Homo sapiens_hsa00340 | 0.45114187 |
| 109 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.45006538 |
| 110 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 0.44624206 |
| 111 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.41895176 |
| 112 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.41361730 |
| 113 | Lysine degradation_Homo sapiens_hsa00310 | 0.41136096 |
| 114 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.40811724 |
| 115 | Phagosome_Homo sapiens_hsa04145 | 0.39467726 |
| 116 | Salmonella infection_Homo sapiens_hsa05132 | 0.39016217 |
| 117 | Ras signaling pathway_Homo sapiens_hsa04014 | 0.38250968 |
| 118 | Thyroid cancer_Homo sapiens_hsa05216 | 0.38051194 |
| 119 | Endometrial cancer_Homo sapiens_hsa05213 | 0.37713742 |
| 120 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.36909474 |
| 121 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.36888301 |
| 122 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.36344460 |
| 123 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.36273283 |
| 124 | Hepatitis B_Homo sapiens_hsa05161 | 0.35038491 |
| 125 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.33312249 |
| 126 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.32914239 |
| 127 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.32895575 |
| 128 | Sulfur relay system_Homo sapiens_hsa04122 | 0.32235466 |
| 129 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.31250158 |
| 130 | Peroxisome_Homo sapiens_hsa04146 | 0.30407781 |
| 131 | Retinol metabolism_Homo sapiens_hsa00830 | 0.30394660 |
| 132 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.29433980 |
| 133 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.29334929 |
| 134 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.28539750 |
| 135 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.27620101 |
| 136 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.25939058 |
| 137 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.25576897 |
| 138 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.24200861 |
| 139 | Cell cycle_Homo sapiens_hsa04110 | 0.24017526 |
| 140 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 0.23987253 |
| 141 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.23966630 |
| 142 | Salivary secretion_Homo sapiens_hsa04970 | 0.21603797 |
| 143 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 0.18282856 |
| 144 | Long-term potentiation_Homo sapiens_hsa04720 | 0.16496384 |

