

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | plasma membrane repair (GO:0001778) | 4.60854201 |
| 2 | endothelial cell chemotaxis (GO:0035767) | 3.62196585 |
| 3 | sarcomere organization (GO:0045214) | 3.58964276 |
| 4 | muscle filament sliding (GO:0030049) | 3.58937562 |
| 5 | actin-myosin filament sliding (GO:0033275) | 3.58937562 |
| 6 | positive regulation of fatty acid beta-oxidation (GO:0032000) | 3.49362090 |
| 7 | carnitine shuttle (GO:0006853) | 3.48616726 |
| 8 | synaptic vesicle docking involved in exocytosis (GO:0016081) | 3.48575268 |
| 9 | regulation of skeletal muscle contraction (GO:0014819) | 3.34140380 |
| 10 | fatty acid transmembrane transport (GO:1902001) | 3.28715938 |
| 11 | lysine catabolic process (GO:0006554) | 3.26916801 |
| 12 | lysine metabolic process (GO:0006553) | 3.26916801 |
| 13 | L-phenylalanine metabolic process (GO:0006558) | 3.26856096 |
| 14 | erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221) | 3.26856096 |
| 15 | L-phenylalanine catabolic process (GO:0006559) | 3.22986610 |
| 16 | erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222) | 3.22986610 |
| 17 | alpha-linolenic acid metabolic process (GO:0036109) | 3.22912994 |
| 18 | cardiac myofibril assembly (GO:0055003) | 3.22631682 |
| 19 | positive regulation of fatty acid oxidation (GO:0046321) | 3.16485097 |
| 20 | myofibril assembly (GO:0030239) | 3.11942934 |
| 21 | adherens junction assembly (GO:0034333) | 3.09637202 |
| 22 | insulin-like growth factor receptor signaling pathway (GO:0048009) | 3.08530545 |
| 23 | regulation of fatty acid beta-oxidation (GO:0031998) | 3.08438925 |
| 24 | regulation of fatty acid oxidation (GO:0046320) | 3.07131479 |
| 25 | positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316) | 3.03157346 |
| 26 | 2-oxoglutarate metabolic process (GO:0006103) | 3.02364447 |
| 27 | cell-substrate junction assembly (GO:0007044) | 3.00801495 |
| 28 | cell-substrate adherens junction assembly (GO:0007045) | 3.00601816 |
| 29 | focal adhesion assembly (GO:0048041) | 3.00601816 |
| 30 | actin-mediated cell contraction (GO:0070252) | 3.00531278 |
| 31 | cell migration involved in heart development (GO:0060973) | 2.98430816 |
| 32 | extracellular matrix assembly (GO:0085029) | 2.93742873 |
| 33 | fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540) | 2.91120096 |
| 34 | regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307) | 2.86429349 |
| 35 | myelination in peripheral nervous system (GO:0022011) | 2.82875685 |
| 36 | peripheral nervous system axon ensheathment (GO:0032292) | 2.82875685 |
| 37 | aspartate family amino acid catabolic process (GO:0009068) | 2.82455478 |
| 38 | fatty acid beta-oxidation (GO:0006635) | 2.82372379 |
| 39 | regulation of cholesterol homeostasis (GO:2000188) | 2.81952307 |
| 40 | cellular response to vascular endothelial growth factor stimulus (GO:0035924) | 2.80571149 |
| 41 | protein carboxylation (GO:0018214) | 2.77932828 |
| 42 | peptidyl-glutamic acid carboxylation (GO:0017187) | 2.77932828 |
| 43 | creatine metabolic process (GO:0006600) | 2.77831813 |
| 44 | negative regulation of fatty acid transport (GO:2000192) | 2.75093548 |
| 45 | atrioventricular valve morphogenesis (GO:0003181) | 2.74798762 |
| 46 | cellular potassium ion homeostasis (GO:0030007) | 2.74342500 |
| 47 | desmosome organization (GO:0002934) | 2.72607476 |
| 48 | regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547) | 2.71905609 |
| 49 | sodium ion export (GO:0071436) | 2.71004809 |
| 50 | negative regulation of potassium ion transmembrane transporter activity (GO:1901017) | 2.70977919 |
| 51 | basement membrane organization (GO:0071711) | 2.69161226 |
| 52 | negative regulation of potassium ion transmembrane transport (GO:1901380) | 2.69100324 |
| 53 | sarcoplasmic reticulum calcium ion transport (GO:0070296) | 2.68812294 |
| 54 | regulation of vascular endothelial growth factor signaling pathway (GO:1900746) | 2.67631406 |
| 55 | semaphorin-plexin signaling pathway (GO:0071526) | 2.67223545 |
| 56 | regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880) | 2.65627193 |
| 57 | negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067) | 2.65138412 |
| 58 | carnitine transmembrane transport (GO:1902603) | 2.63165139 |
| 59 | regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314) | 2.62157971 |
| 60 | glyoxylate metabolic process (GO:0046487) | 2.62035368 |
| 61 | protein heterotrimerization (GO:0070208) | 2.61886835 |
| 62 | regulation of tight junction assembly (GO:2000810) | 2.61879470 |
| 63 | actomyosin structure organization (GO:0031032) | 2.61803443 |
| 64 | cardiac muscle contraction (GO:0060048) | 2.61249386 |
| 65 | negative regulation of cell size (GO:0045792) | 2.57114685 |
| 66 | fatty acid oxidation (GO:0019395) | 2.56406228 |
| 67 | vascular endothelial growth factor receptor signaling pathway (GO:0048010) | 2.55974915 |
| 68 | positive regulation of synapse maturation (GO:0090129) | 2.55750387 |
| 69 | fatty acid catabolic process (GO:0009062) | 2.54652713 |
| 70 | carnitine transport (GO:0015879) | 2.53719811 |
| 71 | amino-acid betaine transport (GO:0015838) | 2.53719811 |
| 72 | cell volume homeostasis (GO:0006884) | 2.53602714 |
| 73 | negative regulation of fibrinolysis (GO:0051918) | 2.52115203 |
| 74 | lipid oxidation (GO:0034440) | 2.52061119 |
| 75 | response to stimulus involved in regulation of muscle adaptation (GO:0014874) | 2.51748286 |
| 76 | regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO | 2.51637549 |
| 77 | cerebellar granule cell differentiation (GO:0021707) | 2.51221605 |
| 78 | skin morphogenesis (GO:0043589) | 2.50976785 |
| 79 | amino-acid betaine metabolic process (GO:0006577) | 2.50696421 |
| 80 | positive regulation of glycogen biosynthetic process (GO:0045725) | 2.50530864 |
| 81 | positive regulation of blood vessel endothelial cell migration (GO:0043536) | 2.49376526 |
| 82 | regulation of the force of heart contraction (GO:0002026) | 2.49282953 |
| 83 | triglyceride-rich lipoprotein particle remodeling (GO:0034370) | 2.47880882 |
| 84 | positive regulation of triglyceride biosynthetic process (GO:0010867) | 2.47220293 |
| 85 | complement activation, alternative pathway (GO:0006957) | 2.47110311 |
| 86 | glycogen catabolic process (GO:0005980) | 2.47062442 |
| 87 | cell communication by electrical coupling involved in cardiac conduction (GO:0086064) | 2.46913176 |
| 88 | actin filament-based movement (GO:0030048) | 2.46232574 |
| 89 | kynurenine metabolic process (GO:0070189) | 2.45932219 |
| 90 | positive regulation of lipid catabolic process (GO:0050996) | 2.45450430 |
| 91 | tricarboxylic acid metabolic process (GO:0072350) | 2.45395404 |
| 92 | venous blood vessel morphogenesis (GO:0048845) | 2.43998632 |
| 93 | positive regulation of receptor recycling (GO:0001921) | 2.43856778 |
| 94 | heart trabecula formation (GO:0060347) | 2.43766748 |
| 95 | membrane depolarization during cardiac muscle cell action potential (GO:0086012) | 2.43560735 |
| 96 | aromatic amino acid family catabolic process (GO:0009074) | 2.43390712 |
| 97 | regulation of p38MAPK cascade (GO:1900744) | 2.43309471 |
| 98 | peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800) | 2.43259633 |
| 99 | bundle of His cell to Purkinje myocyte communication (GO:0086069) | 2.42029484 |
| 100 | regulation of sequestering of triglyceride (GO:0010889) | 2.41830451 |
| 101 | carnitine metabolic process (GO:0009437) | 2.39505309 |
| 102 | valine metabolic process (GO:0006573) | 2.39219173 |
| 103 | monocarboxylic acid catabolic process (GO:0072329) | 2.38965764 |
| 104 | protein targeting to plasma membrane (GO:0072661) | 2.38856601 |
| 105 | cellular ketone body metabolic process (GO:0046950) | 2.38544037 |
| 106 | planar cell polarity pathway involved in neural tube closure (GO:0090179) | 2.38457477 |
| 107 | regulation of actin filament-based movement (GO:1903115) | 2.38312898 |
| 108 | dicarboxylic acid biosynthetic process (GO:0043650) | 2.37811210 |
| 109 | regulation of triglyceride catabolic process (GO:0010896) | 2.37401426 |
| 110 | response to mercury ion (GO:0046689) | 2.37260252 |
| 111 | short-chain fatty acid metabolic process (GO:0046459) | 2.37245359 |
| 112 | positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr | 2.37087832 |
| 113 | barbed-end actin filament capping (GO:0051016) | 2.36922921 |
| 114 | apoptotic cell clearance (GO:0043277) | 2.35512637 |
| 115 | negative regulation of protein localization to cell surface (GO:2000009) | 2.34742174 |
| 116 | positive regulation of glycogen metabolic process (GO:0070875) | 2.34609050 |
| 117 | stress fiber assembly (GO:0043149) | 2.34583461 |
| 118 | sulfur amino acid catabolic process (GO:0000098) | 2.34166791 |
| 119 | tooth mineralization (GO:0034505) | 2.34099267 |
| 120 | kidney mesenchyme development (GO:0072074) | 2.34021902 |
| 121 | positive regulation of triglyceride metabolic process (GO:0090208) | 2.32784606 |
| 122 | positive regulation of fatty acid metabolic process (GO:0045923) | 2.32769154 |
| 123 | cellular modified amino acid catabolic process (GO:0042219) | 2.31827483 |
| 124 | striated muscle contraction (GO:0006941) | 2.31697220 |
| 125 | glucan catabolic process (GO:0009251) | 2.31576857 |
| 126 | cell communication involved in cardiac conduction (GO:0086065) | 2.30237901 |
| 127 | bile acid biosynthetic process (GO:0006699) | 2.29953824 |
| 128 | acetyl-CoA metabolic process (GO:0006084) | 2.28698789 |
| 129 | regulation of protein activation cascade (GO:2000257) | 2.28695881 |
| 130 | 4-hydroxyproline metabolic process (GO:0019471) | 2.28285301 |
| 131 | regulation of triglyceride biosynthetic process (GO:0010866) | 2.28060511 |
| 132 | endothelial cell morphogenesis (GO:0001886) | 2.27197168 |
| 133 | regulation of glucose import in response to insulin stimulus (GO:2001273) | 2.26110524 |
| 134 | positive regulation of histone deacetylation (GO:0031065) | 2.26037939 |
| 135 | positive regulation of myotube differentiation (GO:0010831) | 2.26019594 |
| 136 | vascular endothelial growth factor signaling pathway (GO:0038084) | 2.25647210 |
| 137 | regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882) | 2.24445421 |
| 138 | negative regulation of catenin import into nucleus (GO:0035414) | 2.24256259 |
| 139 | quaternary ammonium group transport (GO:0015697) | 2.23216563 |
| 140 | cell communication by electrical coupling (GO:0010644) | 2.22875750 |
| 141 | regulation of complement activation (GO:0030449) | 2.22821473 |
| 142 | adhesion of symbiont to host (GO:0044406) | 2.22646085 |
| 143 | glutamate secretion (GO:0014047) | 2.22497616 |
| 144 | regulation of early endosome to late endosome transport (GO:2000641) | 2.22454901 |
| 145 | cytoskeletal anchoring at plasma membrane (GO:0007016) | 2.22333069 |
| 146 | regulation of calcineurin-NFAT signaling cascade (GO:0070884) | 2.22052334 |
| 147 | activation of protein kinase A activity (GO:0034199) | 2.21204482 |
| 148 | ethanol oxidation (GO:0006069) | 2.20798972 |
| 149 | ventricular cardiac muscle cell action potential (GO:0086005) | 2.20200015 |
| 150 | regulation of fibrinolysis (GO:0051917) | 2.20139203 |
| 151 | oxaloacetate metabolic process (GO:0006107) | 2.20113266 |
| 152 | hemidesmosome assembly (GO:0031581) | 2.19193842 |
| 153 | camera-type eye morphogenesis (GO:0048593) | 2.18949417 |
| 154 | protein localization to endosome (GO:0036010) | 2.18635921 |
| 155 | actin filament depolymerization (GO:0030042) | 2.18317578 |
| 156 | skeletal muscle fiber development (GO:0048741) | 2.17009566 |
| 157 | regulation of integrin-mediated signaling pathway (GO:2001044) | 2.16500795 |
| 158 | metanephric nephron epithelium development (GO:0072243) | 2.16161330 |
| 159 | regulation of synapse maturation (GO:0090128) | 2.15972495 |
| 160 | extracellular fibril organization (GO:0043206) | 2.15542556 |
| 161 | neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976) | 2.15288215 |
| 162 | positive regulation of extracellular matrix organization (GO:1903055) | 2.14831320 |
| 163 | regulation of establishment of planar polarity involved in neural tube closure (GO:0090178) | 2.14376023 |
| 164 | metanephric mesenchyme development (GO:0072075) | 2.13734118 |
| 165 | collagen fibril organization (GO:0030199) | 2.12463942 |
| 166 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 2.11772482 |
| 167 | cellular response to epinephrine stimulus (GO:0071872) | 2.11324085 |
| 168 | metanephric nephron tubule development (GO:0072234) | 2.08893933 |
| 169 | metanephric tubule development (GO:0072170) | 2.08893933 |
| 170 | muscle contraction (GO:0006936) | 2.05751691 |
| 171 | regulation of endothelial cell chemotaxis (GO:2001026) | 2.03541675 |
| 172 | cell-cell junction maintenance (GO:0045217) | 2.03416775 |
| 173 | endocardial cushion development (GO:0003197) | 2.02703675 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | * ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 4.46047170 |
| 2 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 3.91277215 |
| 3 | * RXR_22158963_ChIP-Seq_LIVER_Mouse | 3.34703516 |
| 4 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 3.00177103 |
| 5 | * PPARA_22158963_ChIP-Seq_LIVER_Mouse | 2.92294816 |
| 6 | LXR_22158963_ChIP-Seq_LIVER_Mouse | 2.79198896 |
| 7 | NR1I2_20693526_ChIP-Seq_LIVER_Mouse | 2.39543727 |
| 8 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.32983129 |
| 9 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 2.27235525 |
| 10 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 2.13554831 |
| 11 | FOXO1_23066095_ChIP-Seq_LIVER_Mouse | 2.08861562 |
| 12 | CLOCK_20551151_ChIP-Seq_293T_Human | 2.03521742 |
| 13 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 2.02469439 |
| 14 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 2.01285304 |
| 15 | * ESR2_21235772_ChIP-Seq_MCF-7_Human | 1.92557637 |
| 16 | TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.84886311 |
| 17 | EP300_21415370_ChIP-Seq_HL-1_Mouse | 1.84011286 |
| 18 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 1.78726136 |
| 19 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 1.77169165 |
| 20 | ZNF263_19887448_ChIP-Seq_K562_Human | 1.76049401 |
| 21 | * TBX20_22080862_ChIP-Seq_HEART_Mouse | 1.75409498 |
| 22 | * TBX20_22328084_ChIP-Seq_HEART_Mouse | 1.75409498 |
| 23 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.73822344 |
| 24 | ESR1_22446102_ChIP-Seq_UTERUS_Mouse | 1.63145089 |
| 25 | * KDM2B_26808549_Chip-Seq_SUP-B15_Human | 1.60249554 |
| 26 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.59946672 |
| 27 | TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 1.59310638 |
| 28 | RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 1.45596496 |
| 29 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.45248099 |
| 30 | * SMAD3_22036565_ChIP-Seq_ESCs_Mouse | 1.41383177 |
| 31 | ELK3_25401928_ChIP-Seq_HUVEC_Human | 1.40433239 |
| 32 | * KDM2B_26808549_Chip-Seq_K562_Human | 1.39917831 |
| 33 | SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 1.37814972 |
| 34 | * WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 1.36654389 |
| 35 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 1.34725534 |
| 36 | GATA2_21666600_ChIP-Seq_HMVEC_Human | 1.34409876 |
| 37 | RACK7_27058665_Chip-Seq_MCF-7_Human | 1.34396010 |
| 38 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.33646002 |
| 39 | * TP53_23651856_ChIP-Seq_MEFs_Mouse | 1.33592717 |
| 40 | MTF2_20144788_ChIP-Seq_MESCs_Mouse | 1.33505111 |
| 41 | EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse | 1.33442805 |
| 42 | FOXA2_19822575_ChIP-Seq_HepG2_Human | 1.33396268 |
| 43 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.32428964 |
| 44 | RNF2_27304074_Chip-Seq_ESCs_Mouse | 1.32345472 |
| 45 | * RNF2_18974828_ChIP-Seq_MESCs_Mouse | 1.31889998 |
| 46 | * EZH2_18974828_ChIP-Seq_MESCs_Mouse | 1.31889998 |
| 47 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 1.30732215 |
| 48 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.30142921 |
| 49 | * ZFP281_27345836_Chip-Seq_ESCs_Mouse | 1.29594562 |
| 50 | TET1_21490601_ChIP-Seq_MESCs_Mouse | 1.27753170 |
| 51 | * KDM2B_26808549_Chip-Seq_DND41_Human | 1.25942224 |
| 52 | BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human | 1.24008801 |
| 53 | * P68_20966046_ChIP-Seq_HELA_Human | 1.21125303 |
| 54 | ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 1.20538939 |
| 55 | * ESR1_21235772_ChIP-Seq_MCF-7_Human | 1.19832370 |
| 56 | CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 1.19577705 |
| 57 | SUZ12_18692474_ChIP-Seq_MEFs_Mouse | 1.19410434 |
| 58 | SOX9_24532713_ChIP-Seq_HFSC_Mouse | 1.18314340 |
| 59 | RARB_27405468_Chip-Seq_BRAIN_Mouse | 1.17998411 |
| 60 | DNAJC2_21179169_ChIP-ChIP_NT2_Human | 1.16032982 |
| 61 | CREB1_26743006_Chip-Seq_LNCaP-abl_Human | 1.14909190 |
| 62 | SMC3_22415368_ChIP-Seq_MEFs_Mouse | 1.14637540 |
| 63 | SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 1.14040754 |
| 64 | * EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.13656832 |
| 65 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 1.12794478 |
| 66 | P300_27058665_Chip-Seq_ZR-75-30cells_Human | 1.12330423 |
| 67 | * CTCF_27219007_Chip-Seq_ERYTHROID_Human | 1.11736154 |
| 68 | VDR_21846776_ChIP-Seq_THP-1_Human | 1.11689193 |
| 69 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 1.11130311 |
| 70 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 1.09758165 |
| 71 | * ZFP281_18757296_ChIP-ChIP_E14_Mouse | 1.09709006 |
| 72 | TP53_22127205_ChIP-Seq_IMR90_Human | 1.09604640 |
| 73 | * SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 1.09425959 |
| 74 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 1.09022500 |
| 75 | * EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human | 1.08031972 |
| 76 | CJUN_26792858_Chip-Seq_BT549_Human | 1.06698884 |
| 77 | KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.06686227 |
| 78 | SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 1.06640221 |
| 79 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 1.06230775 |
| 80 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.05737961 |
| 81 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.05708942 |
| 82 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.05114827 |
| 83 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.05067512 |
| 84 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.05059385 |
| 85 | PPAR_26484153_Chip-Seq_NCI-H1993_Human | 1.04785585 |
| 86 | * WT1_25993318_ChIP-Seq_PODOCYTE_Human | 1.03707959 |
| 87 | SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 1.03156909 |
| 88 | ERG_21242973_ChIP-ChIP_JURKAT_Human | 1.02518397 |
| 89 | * UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 1.02422304 |
| 90 | NFE2L2_20460467_ChIP-Seq_MEFs_Mouse | 1.02271993 |
| 91 | NRF2_20460467_ChIP-Seq_MEFs_Mouse | 1.02271993 |
| 92 | GATA1_19941826_ChIP-Seq_K562_Human | 1.01320644 |
| 93 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 0.99297068 |
| 94 | * KDM2B_26808549_Chip-Seq_SIL-ALL_Human | 0.98751500 |
| 95 | TCF7L2_21901280_ChIP-Seq_H4IIE_Rat | 0.98342391 |
| 96 | * SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 0.96633236 |
| 97 | KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.96399734 |
| 98 | SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 0.96325609 |
| 99 | CREB1_26743006_Chip-Seq_LNCaP_Human | 0.95654252 |
| 100 | * KDM2B_26808549_Chip-Seq_JURKAT_Human | 0.94784370 |
| 101 | SMC1_22415368_ChIP-Seq_MEFs_Mouse | 0.93990591 |
| 102 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 0.93931661 |
| 103 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 0.93835797 |
| 104 | P63_26484246_Chip-Seq_KERATINOCYTES_Human | 0.92795015 |
| 105 | FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human | 0.91310095 |
| 106 | EGR1_23403033_ChIP-Seq_LIVER_Mouse | 0.90615174 |
| 107 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 0.90499823 |
| 108 | * DMRT1_23473982_ChIP-Seq_TESTES_Mouse | 0.90343295 |
| 109 | TP63_22573176_ChIP-Seq_HFKS_Human | 0.89497951 |
| 110 | * EED_16625203_ChIP-ChIP_MESCs_Mouse | 0.89135919 |
| 111 | FOXO3_23340844_ChIP-Seq_DLD1_Human | 0.88409372 |
| 112 | ATF3_27146783_Chip-Seq_COLON_Human | 0.86891977 |
| 113 | * TCF7_22412390_ChIP-Seq_EML_Mouse | 0.86351667 |
| 114 | RUNX1_27514584_Chip-Seq_MCF-7_Human | 0.85432505 |
| 115 | * TP53_20018659_ChIP-ChIP_R1E_Mouse | 0.85348685 |
| 116 | * TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 0.83790399 |
| 117 | * ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 0.82991609 |
| 118 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 0.81272907 |
| 119 | SMC4_20622854_ChIP-Seq_HELA_Human | 0.80050979 |
| 120 | * GATA2_19941826_ChIP-Seq_K562_Human | 0.79983540 |
| 121 | * PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 0.79971777 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0002837_dystrophic_cardiac_calcinosis | 4.00259986 |
| 2 | MP0000751_myopathy | 3.84207435 |
| 3 | MP0008438_abnormal_cutaneous_collagen | 3.54734245 |
| 4 | MP0000749_muscle_degeneration | 3.05648683 |
| 5 | MP0003705_abnormal_hypodermis_morpholog | 2.89515221 |
| 6 | MP0002139_abnormal_hepatobiliary_system | 2.72912479 |
| 7 | MP0004084_abnormal_cardiac_muscle | 2.52912783 |
| 8 | MP0004036_abnormal_muscle_relaxation | 2.46768357 |
| 9 | MP0004145_abnormal_muscle_electrophysio | 2.45447413 |
| 10 | MP0005275_abnormal_skin_tensile | 2.44598845 |
| 11 | MP0003646_muscle_fatigue | 2.41999252 |
| 12 | MP0005360_urolithiasis | 2.38697729 |
| 13 | MP0004130_abnormal_muscle_cell | 2.20586115 |
| 14 | MP0003279_aneurysm | 2.19202935 |
| 15 | MP0004087_abnormal_muscle_fiber | 2.17952540 |
| 16 | MP0005409_darkened_coat_color | 2.16962666 |
| 17 | MP0005503_abnormal_tendon_morphology | 2.16146966 |
| 18 | MP0005365_abnormal_bile_salt | 2.11763502 |
| 19 | MP0005085_abnormal_gallbladder_physiolo | 2.11133415 |
| 20 | MP0000747_muscle_weakness | 2.09310053 |
| 21 | MP0010368_abnormal_lymphatic_system | 1.99758710 |
| 22 | MP0005330_cardiomyopathy | 1.98273308 |
| 23 | MP0000750_abnormal_muscle_regeneration | 1.91828946 |
| 24 | MP0005083_abnormal_biliary_tract | 1.89433043 |
| 25 | MP0003252_abnormal_bile_duct | 1.88118197 |
| 26 | MP0000759_abnormal_skeletal_muscle | 1.82544135 |
| 27 | MP0002269_muscular_atrophy | 1.79289849 |
| 28 | MP0002249_abnormal_larynx_morphology | 1.72836764 |
| 29 | MP0002106_abnormal_muscle_physiology | 1.70741435 |
| 30 | MP0005670_abnormal_white_adipose | 1.66702900 |
| 31 | MP0004215_abnormal_myocardial_fiber | 1.63169418 |
| 32 | MP0002108_abnormal_muscle_morphology | 1.62972736 |
| 33 | MP0005369_muscle_phenotype | 1.62222300 |
| 34 | MP0005620_abnormal_muscle_contractility | 1.61628416 |
| 35 | MP0009840_abnormal_foam_cell | 1.58761478 |
| 36 | MP0001958_emphysema | 1.56217785 |
| 37 | MP0003879_abnormal_hair_cell | 1.56025065 |
| 38 | MP0008875_abnormal_xenobiotic_pharmacok | 1.53745761 |
| 39 | MP0004510_myositis | 1.53122801 |
| 40 | MP0005257_abnormal_intraocular_pressure | 1.53106454 |
| 41 | MP0005076_abnormal_cell_differentiation | 1.52187995 |
| 42 | MP0003195_calcinosis | 1.51939200 |
| 43 | MP0010329_abnormal_lipoprotein_level | 1.49087981 |
| 44 | MP0006138_congestive_heart_failure | 1.49053889 |
| 45 | MP0001849_ear_inflammation | 1.49032895 |
| 46 | MP0004272_abnormal_basement_membrane | 1.48395716 |
| 47 | MP0002972_abnormal_cardiac_muscle | 1.47218927 |
| 48 | MP0004859_abnormal_synaptic_plasticity | 1.44656891 |
| 49 | MP0010630_abnormal_cardiac_muscle | 1.44448414 |
| 50 | MP0000678_abnormal_parathyroid_gland | 1.43978554 |
| 51 | MP0005623_abnormal_meninges_morphology | 1.43481372 |
| 52 | MP0005666_abnormal_adipose_tissue | 1.42987807 |
| 53 | MP0001348_abnormal_lacrimal_gland | 1.42152632 |
| 54 | MP0000013_abnormal_adipose_tissue | 1.38096854 |
| 55 | MP0001544_abnormal_cardiovascular_syste | 1.33837002 |
| 56 | MP0005385_cardiovascular_system_phenoty | 1.33837002 |
| 57 | MP0005375_adipose_tissue_phenotype | 1.28160928 |
| 58 | MP0004233_abnormal_muscle_weight | 1.27597269 |
| 59 | MP0000733_abnormal_muscle_development | 1.26133435 |
| 60 | MP0003566_abnormal_cell_adhesion | 1.24731040 |
| 61 | MP0005332_abnormal_amino_acid | 1.24089909 |
| 62 | MP0003950_abnormal_plasma_membrane | 1.22339452 |
| 63 | MP0005451_abnormal_body_composition | 1.20280737 |
| 64 | MP0002118_abnormal_lipid_homeostasis | 1.17161265 |
| 65 | MP0009384_cardiac_valve_regurgitation | 1.14124663 |
| 66 | MP0003806_abnormal_nucleotide_metabolis | 1.11457537 |
| 67 | MP0003300_gastrointestinal_ulcer | 1.11014709 |
| 68 | MP0008775_abnormal_heart_ventricle | 1.10644719 |
| 69 | MP0004185_abnormal_adipocyte_glucose | 1.10285880 |
| 70 | MP0003137_abnormal_impulse_conducting | 1.10039760 |
| 71 | MP0003045_fibrosis | 1.09785764 |
| 72 | MP0000003_abnormal_adipose_tissue | 1.07299089 |
| 73 | MP0009780_abnormal_chondrocyte_physiolo | 1.06633150 |
| 74 | MP0000534_abnormal_ureter_morphology | 1.06199397 |
| 75 | MP0002060_abnormal_skin_morphology | 1.03146199 |
| 76 | MP0002896_abnormal_bone_mineralization | 0.99989093 |
| 77 | MP0004484_altered_response_of | 0.99048170 |
| 78 | MP0002971_abnormal_brown_adipose | 0.96992834 |
| 79 | MP0001502_abnormal_circadian_rhythm | 0.96490056 |
| 80 | MP0003191_abnormal_cellular_cholesterol | 0.96233036 |
| 81 | MP0005319_abnormal_enzyme/_coenzyme | 0.95431145 |
| 82 | MP0004085_abnormal_heartbeat | 0.94353946 |
| 83 | MP0004858_abnormal_nervous_system | 0.94063930 |
| 84 | MP0002877_abnormal_melanocyte_morpholog | 0.92120679 |
| 85 | MP0000767_abnormal_smooth_muscle | 0.90873951 |
| 86 | MP0003828_pulmonary_edema | 0.89807656 |
| 87 | MP0001542_abnormal_bone_strength | 0.88539016 |
| 88 | MP0001879_abnormal_lymphatic_vessel | 0.87224773 |
| 89 | MP0008961_abnormal_basal_metabolism | 0.86242880 |
| 90 | MP0008569_lethality_at_weaning | 0.86016623 |
| 91 | MP0002128_abnormal_blood_circulation | 0.85872683 |
| 92 | MP0005058_abnormal_lysosome_morphology | 0.85107851 |
| 93 | MP0002332_abnormal_exercise_endurance | 0.84873251 |
| 94 | MP0009250_abnormal_appendicular_skeleto | 0.83463063 |
| 95 | MP0002909_abnormal_adrenal_gland | 0.82682833 |
| 96 | MP0005584_abnormal_enzyme/coenzyme_acti | 0.82612714 |
| 97 | MP0002168_other_aberrant_phenotype | 0.81591939 |
| 98 | MP0001661_extended_life_span | 0.81522684 |
| 99 | MP0010030_abnormal_orbit_morphology | 0.80490556 |
| 100 | MP0002234_abnormal_pharynx_morphology | 0.80343069 |
| 101 | MP0000467_abnormal_esophagus_morphology | 0.78988160 |
| 102 | MP0002933_joint_inflammation | 0.78525935 |
| 103 | MP0000230_abnormal_systemic_arterial | 0.77120328 |
| 104 | MP0000163_abnormal_cartilage_morphology | 0.76742160 |
| 105 | MP0001666_abnormal_nutrient_absorption | 0.76686130 |
| 106 | MP0005023_abnormal_wound_healing | 0.76605054 |
| 107 | MP0000609_abnormal_liver_physiology | 0.76231745 |
| 108 | MP0002295_abnormal_pulmonary_circulatio | 0.75097119 |
| 109 | MP0000762_abnormal_tongue_morphology | 0.74481597 |
| 110 | MP0005508_abnormal_skeleton_morphology | 0.74233255 |
| 111 | MP0001299_abnormal_eye_distance/ | 0.73363910 |
| 112 | MP0003329_amyloid_beta_deposits | 0.72991081 |
| 113 | MP0000681_abnormal_thyroid_gland | 0.72837053 |
| 114 | MP0005165_increased_susceptibility_to | 0.71193721 |
| 115 | MP0001270_distended_abdomen | 0.71097180 |
| 116 | MP0009643_abnormal_urine_homeostasis | 0.70316781 |
| 117 | MP0000343_altered_response_to | 0.70127827 |
| 118 | MP0003091_abnormal_cell_migration | 0.69492269 |
| 119 | MP0006036_abnormal_mitochondrial_physio | 0.69452345 |
| 120 | MP0004270_analgesia | 0.67666202 |
| 121 | MP0000579_abnormal_nail_morphology | 0.67322431 |
| 122 | MP0002078_abnormal_glucose_homeostasis | 0.66081365 |
| 123 | MP0003075_altered_response_to | 0.65919415 |
| 124 | MP0003453_abnormal_keratinocyte_physiol | 0.63454501 |
| 125 | MP0005334_abnormal_fat_pad | 0.63166158 |
| 126 | MP0003011_delayed_dark_adaptation | 0.63044582 |
| 127 | MP0000266_abnormal_heart_morphology | 0.62450864 |
| 128 | MP0003172_abnormal_lysosome_physiology | 0.62443761 |
| 129 | MP0002998_abnormal_bone_remodeling | 0.61887229 |
| 130 | MP0004043_abnormal_pH_regulation | 0.61654474 |
| 131 | MP0005595_abnormal_vascular_smooth | 0.61181002 |
| 132 | MP0003283_abnormal_digestive_organ | 0.61144460 |
| 133 | MP0003942_abnormal_urinary_system | 0.60953025 |
| 134 | MP0004134_abnormal_chest_morphology | 0.60203756 |
| 135 | MP0002970_abnormal_white_adipose | 0.58790844 |
| 136 | MP0000462_abnormal_digestive_system | 0.57632878 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Obstructive sleep apnea (HP:0002870) | 4.71089794 |
| 2 | Type 1 muscle fiber predominance (HP:0003803) | 4.47344217 |
| 3 | Increased connective tissue (HP:0009025) | 4.24532579 |
| 4 | Protrusio acetabuli (HP:0003179) | 4.18899686 |
| 5 | Hyporeflexia of lower limbs (HP:0002600) | 4.11327394 |
| 6 | Exercise-induced myalgia (HP:0003738) | 4.06668093 |
| 7 | Muscle fiber splitting (HP:0003555) | 4.03586357 |
| 8 | Sudden death (HP:0001699) | 3.72539098 |
| 9 | Exercise-induced muscle cramps (HP:0003710) | 3.66891907 |
| 10 | Broad metatarsal (HP:0001783) | 3.64751315 |
| 11 | Premature rupture of membranes (HP:0001788) | 3.57947131 |
| 12 | Calf muscle hypertrophy (HP:0008981) | 3.41717040 |
| 13 | Increased variability in muscle fiber diameter (HP:0003557) | 3.35641337 |
| 14 | Difficulty running (HP:0009046) | 3.33920575 |
| 15 | Muscle hypertrophy of the lower extremities (HP:0008968) | 3.33707674 |
| 16 | Abnormality of the calf musculature (HP:0001430) | 3.21736340 |
| 17 | Muscle fiber inclusion bodies (HP:0100299) | 3.19173442 |
| 18 | Deep venous thrombosis (HP:0002625) | 3.17116198 |
| 19 | Myoglobinuria (HP:0002913) | 3.15059748 |
| 20 | Abnormality of skeletal muscle fiber size (HP:0012084) | 3.13685322 |
| 21 | Muscle fiber cytoplasmatic inclusion bodies (HP:0100303) | 3.13548117 |
| 22 | EMG: myopathic abnormalities (HP:0003458) | 3.11245734 |
| 23 | Myotonia (HP:0002486) | 3.03318409 |
| 24 | Ventricular tachycardia (HP:0004756) | 2.97679111 |
| 25 | Asymmetric septal hypertrophy (HP:0001670) | 2.97205522 |
| 26 | Right ventricular cardiomyopathy (HP:0011663) | 2.96401022 |
| 27 | Spinal rigidity (HP:0003306) | 2.80356083 |
| 28 | Difficulty climbing stairs (HP:0003551) | 2.79831310 |
| 29 | Xanthomatosis (HP:0000991) | 2.79600991 |
| 30 | Round ear (HP:0100830) | 2.79076429 |
| 31 | Mildly elevated creatine phosphokinase (HP:0008180) | 2.74606695 |
| 32 | Centrally nucleated skeletal muscle fibers (HP:0003687) | 2.72031041 |
| 33 | Shallow orbits (HP:0000586) | 2.69379855 |
| 34 | Ankle contracture (HP:0006466) | 2.63323510 |
| 35 | Distal arthrogryposis (HP:0005684) | 2.61694397 |
| 36 | Abnormality of the left ventricular outflow tract (HP:0011103) | 2.59017106 |
| 37 | Subaortic stenosis (HP:0001682) | 2.59017106 |
| 38 | Muscle stiffness (HP:0003552) | 2.57167499 |
| 39 | Broad face (HP:0000283) | 2.51156216 |
| 40 | Lipoatrophy (HP:0100578) | 2.50935915 |
| 41 | Nemaline bodies (HP:0003798) | 2.50452899 |
| 42 | Ketosis (HP:0001946) | 2.44572195 |
| 43 | Vascular tortuosity (HP:0004948) | 2.43348821 |
| 44 | Ketoacidosis (HP:0001993) | 2.42621907 |
| 45 | Cerebral aneurysm (HP:0004944) | 2.41898281 |
| 46 | Abnormality of aromatic amino acid family metabolism (HP:0004338) | 2.41504509 |
| 47 | Abnormality of the Achilles tendon (HP:0005109) | 2.41473660 |
| 48 | Atrial fibrillation (HP:0005110) | 2.40799920 |
| 49 | Fragile skin (HP:0001030) | 2.38917109 |
| 50 | Cervical subluxation (HP:0003308) | 2.35575231 |
| 51 | Hypoglycemic coma (HP:0001325) | 2.34522071 |
| 52 | Wormian bones (HP:0002645) | 2.33338137 |
| 53 | Hyperacusis (HP:0010780) | 2.31293226 |
| 54 | Achilles tendon contracture (HP:0001771) | 2.31095983 |
| 55 | Bundle branch block (HP:0011710) | 2.27400199 |
| 56 | Atrophic scars (HP:0001075) | 2.24460420 |
| 57 | Peritonitis (HP:0002586) | 2.24140608 |
| 58 | Overgrowth (HP:0001548) | 2.23849657 |
| 59 | Lower limb amyotrophy (HP:0007210) | 2.22008370 |
| 60 | Primary atrial arrhythmia (HP:0001692) | 2.20169314 |
| 61 | Complement deficiency (HP:0004431) | 2.19121508 |
| 62 | Vertebral compression fractures (HP:0002953) | 2.15664698 |
| 63 | Arterial tortuosity (HP:0005116) | 2.14763469 |
| 64 | Dilated cardiomyopathy (HP:0001644) | 2.14549707 |
| 65 | Ulnar bowing (HP:0003031) | 2.13939675 |
| 66 | Abnormal atrioventricular conduction (HP:0005150) | 2.13581182 |
| 67 | Mitral regurgitation (HP:0001653) | 2.13337268 |
| 68 | Advanced eruption of teeth (HP:0006288) | 2.13198616 |
| 69 | Hypoalphalipoproteinemia (HP:0003233) | 2.12749263 |
| 70 | Slender build (HP:0001533) | 2.11221876 |
| 71 | Limb-girdle muscle atrophy (HP:0003797) | 2.11088498 |
| 72 | Scapular winging (HP:0003691) | 2.11049935 |
| 73 | Stridor (HP:0010307) | 2.10653109 |
| 74 | Aortic dissection (HP:0002647) | 2.08098873 |
| 75 | Supraventricular arrhythmia (HP:0005115) | 2.06488910 |
| 76 | Follicular hyperkeratosis (HP:0007502) | 2.06330553 |
| 77 | Distal lower limb muscle weakness (HP:0009053) | 2.06036131 |
| 78 | Supraventricular tachycardia (HP:0004755) | 2.05720330 |
| 79 | Atrioventricular block (HP:0001678) | 2.05694632 |
| 80 | Rhabdomyolysis (HP:0003201) | 2.04998634 |
| 81 | Blue sclerae (HP:0000592) | 2.04298849 |
| 82 | Lymphangioma (HP:0100764) | 2.04298554 |
| 83 | Intrahepatic cholestasis (HP:0001406) | 2.03242464 |
| 84 | Prolonged QT interval (HP:0001657) | 2.00985629 |
| 85 | Hyperlipoproteinemia (HP:0010980) | 2.00094134 |
| 86 | Distal lower limb amyotrophy (HP:0008944) | 1.99841629 |
| 87 | Myopathic facies (HP:0002058) | 1.99706349 |
| 88 | Heart block (HP:0012722) | 1.99312489 |
| 89 | Bladder diverticulum (HP:0000015) | 1.98462363 |
| 90 | Wrist flexion contracture (HP:0001239) | 1.97825316 |
| 91 | Joint stiffness (HP:0001387) | 1.97504504 |
| 92 | Generalized amyotrophy (HP:0003700) | 1.95573615 |
| 93 | Aortic regurgitation (HP:0001659) | 1.95534303 |
| 94 | Distal upper limb amyotrophy (HP:0007149) | 1.94797656 |
| 95 | Upper limb amyotrophy (HP:0009129) | 1.94797656 |
| 96 | Hyperammonemia (HP:0001987) | 1.93723398 |
| 97 | Abnormality of fatty-acid metabolism (HP:0004359) | 1.92704879 |
| 98 | Ventricular arrhythmia (HP:0004308) | 1.92427803 |
| 99 | Neonatal short-limb short stature (HP:0008921) | 1.92361520 |
| 100 | Aneurysm (HP:0002617) | 1.92354320 |
| 101 | Bulbar palsy (HP:0001283) | 1.91373410 |
| 102 | Mitral valve prolapse (HP:0001634) | 1.90794375 |
| 103 | Natal tooth (HP:0000695) | 1.90735677 |
| 104 | Skin nodule (HP:0200036) | 1.86666889 |
| 105 | Palpitations (HP:0001962) | 1.85034509 |
| 106 | Sparse lateral eyebrow (HP:0005338) | 1.81558073 |
| 107 | Syncope (HP:0001279) | 1.81552208 |
| 108 | Reduced subcutaneous adipose tissue (HP:0003758) | 1.80437440 |
| 109 | Joint laxity (HP:0001388) | 1.79842129 |
| 110 | Venous abnormality (HP:0002624) | 1.79623809 |
| 111 | Abnormality of complement system (HP:0005339) | 1.79543804 |
| 112 | Hip contracture (HP:0003273) | 1.79184315 |
| 113 | Osteolytic defects of the hand bones (HP:0009699) | 1.78182663 |
| 114 | Osteolytic defects of the phalanges of the hand (HP:0009771) | 1.78182663 |
| 115 | Ulnar deviation of the wrist (HP:0003049) | 1.77402195 |
| 116 | Acanthosis nigricans (HP:0000956) | 1.77328827 |
| 117 | Axonal loss (HP:0003447) | 1.75807862 |
| 118 | Soft skin (HP:0000977) | 1.75475603 |
| 119 | Biconcave vertebral bodies (HP:0004586) | 1.75329746 |
| 120 | Late onset (HP:0003584) | 1.75181531 |
| 121 | Turricephaly (HP:0000262) | 1.74813847 |
| 122 | Aortic aneurysm (HP:0004942) | 1.74765127 |
| 123 | Ventricular fibrillation (HP:0001663) | 1.74660135 |
| 124 | Cholelithiasis (HP:0001081) | 1.74550744 |
| 125 | Dilatation of the ascending aorta (HP:0005111) | 1.74109810 |
| 126 | EMG: neuropathic changes (HP:0003445) | 1.73913313 |
| 127 | Hypoventilation (HP:0002791) | 1.73884665 |
| 128 | Hyperextensible skin (HP:0000974) | 1.73293932 |
| 129 | Genu recurvatum (HP:0002816) | 1.73257638 |
| 130 | Mitral stenosis (HP:0001718) | 1.72808583 |
| 131 | Bradycardia (HP:0001662) | 1.72430585 |
| 132 | Abnormality of monocarboxylic acid metabolism (HP:0010996) | 1.71705295 |
| 133 | Hypoplastic ischia (HP:0003175) | 1.71061226 |
| 134 | Gout (HP:0001997) | 1.70488927 |
| 135 | Dysmetric saccades (HP:0000641) | 1.69787333 |
| 136 | Gowers sign (HP:0003391) | 1.69372723 |
| 137 | Abnormality of the ischium (HP:0003174) | 1.68764079 |
| 138 | Elbow flexion contracture (HP:0002987) | 1.67975885 |
| 139 | Neck muscle weakness (HP:0000467) | 1.66948643 |
| 140 | Abnormality of the common coagulation pathway (HP:0010990) | 1.65899435 |
| 141 | Infantile muscular hypotonia (HP:0008947) | 1.62767503 |
| 142 | Bronchomalacia (HP:0002780) | 1.62204570 |
| 143 | Limited hip movement (HP:0008800) | 1.62182552 |
| 144 | Disproportionate tall stature (HP:0001519) | 1.61826543 |
| 145 | Foot dorsiflexor weakness (HP:0009027) | 1.61662980 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TRIB3 | 4.59495750 |
| 2 | TTN | 4.00941980 |
| 3 | SIK1 | 2.82751053 |
| 4 | ERN1 | 2.79296397 |
| 5 | PKN2 | 2.74764587 |
| 6 | TIE1 | 2.54772398 |
| 7 | BCKDK | 2.48893345 |
| 8 | PHKG2 | 2.34926543 |
| 9 | PHKG1 | 2.34926543 |
| 10 | RIPK1 | 2.24882220 |
| 11 | EPHB1 | 2.11155925 |
| 12 | OBSCN | 2.04555064 |
| 13 | LMTK2 | 2.03969086 |
| 14 | DMPK | 1.77627450 |
| 15 | TESK1 | 1.71142778 |
| 16 | PRPF4B | 1.69433282 |
| 17 | PDGFRA | 1.59797878 |
| 18 | CDK12 | 1.58377052 |
| 19 | AKT3 | 1.50328630 |
| 20 | PTK6 | 1.43328565 |
| 21 | MYLK | 1.41311288 |
| 22 | MAP3K7 | 1.39160388 |
| 23 | EPHA2 | 1.38749706 |
| 24 | SMG1 | 1.37695027 |
| 25 | DDR2 | 1.36858209 |
| 26 | MAP2K3 | 1.36755682 |
| 27 | PIK3CG | 1.34886637 |
| 28 | TGFBR2 | 1.30499768 |
| 29 | BMX | 1.28094408 |
| 30 | FGFR4 | 1.26832526 |
| 31 | CAMK1G | 1.26353892 |
| 32 | PIK3CA | 1.23041370 |
| 33 | CAMK1D | 1.21724999 |
| 34 | PINK1 | 1.20733718 |
| 35 | NTRK1 | 1.19889951 |
| 36 | EPHA3 | 1.17968928 |
| 37 | LATS2 | 1.16081983 |
| 38 | WNK1 | 1.13049038 |
| 39 | EEF2K | 1.10467266 |
| 40 | FER | 1.08302684 |
| 41 | WNK4 | 1.08211218 |
| 42 | MAPKAPK3 | 1.07878416 |
| 43 | PRKD3 | 1.06794089 |
| 44 | PRKD1 | 1.05804269 |
| 45 | MAP3K6 | 1.05458980 |
| 46 | INSRR | 1.01701309 |
| 47 | TRPM7 | 0.99578369 |
| 48 | RET | 0.96499215 |
| 49 | LATS1 | 0.93040558 |
| 50 | PTK2 | 0.92637684 |
| 51 | LIMK1 | 0.92012182 |
| 52 | MAPK7 | 0.90060663 |
| 53 | MUSK | 0.89521574 |
| 54 | CAMKK1 | 0.89338116 |
| 55 | MAPK12 | 0.89318740 |
| 56 | STK38 | 0.89032697 |
| 57 | MARK1 | 0.88767374 |
| 58 | EPHB2 | 0.88732833 |
| 59 | FLT3 | 0.88669580 |
| 60 | PRKCH | 0.88020863 |
| 61 | IRAK3 | 0.87449893 |
| 62 | ILK | 0.86203548 |
| 63 | PAK3 | 0.84855859 |
| 64 | ICK | 0.82328555 |
| 65 | MAP3K1 | 0.81234887 |
| 66 | MAP2K4 | 0.81103718 |
| 67 | NTRK3 | 0.81032929 |
| 68 | LRRK2 | 0.80069605 |
| 69 | TAOK1 | 0.78687030 |
| 70 | ROCK1 | 0.77685685 |
| 71 | PAK6 | 0.76716963 |
| 72 | PTK2B | 0.73192579 |
| 73 | NEK9 | 0.70793060 |
| 74 | PRKD2 | 0.69591651 |
| 75 | PRKAA2 | 0.69286271 |
| 76 | PAK2 | 0.68611456 |
| 77 | RPS6KL1 | 0.67888387 |
| 78 | RPS6KC1 | 0.67888387 |
| 79 | MAP2K1 | 0.67413536 |
| 80 | TNK2 | 0.67208636 |
| 81 | MTOR | 0.66375972 |
| 82 | PDPK1 | 0.65812488 |
| 83 | MOS | 0.65572791 |
| 84 | MET | 0.65488158 |
| 85 | PDK4 | 0.65266000 |
| 86 | PDK3 | 0.65266000 |
| 87 | PRKG2 | 0.64269719 |
| 88 | MAP3K13 | 0.62595943 |
| 89 | MST1R | 0.59883215 |
| 90 | ROCK2 | 0.59588522 |
| 91 | MAPK4 | 0.58719402 |
| 92 | TAOK2 | 0.58173694 |
| 93 | ABL2 | 0.58071420 |
| 94 | CAMKK2 | 0.57024921 |
| 95 | KDR | 0.56678088 |
| 96 | CAMK2D | 0.56398254 |
| 97 | CAMK4 | 0.56060341 |
| 98 | JAK1 | 0.55847378 |
| 99 | CAMK2B | 0.55043145 |
| 100 | RPS6KA6 | 0.54608640 |
| 101 | DYRK1B | 0.53389044 |
| 102 | DAPK2 | 0.53251915 |
| 103 | SGK223 | 0.52814655 |
| 104 | SGK494 | 0.52814655 |
| 105 | CDC42BPA | 0.52181752 |
| 106 | NEK1 | 0.51210085 |
| 107 | MAP3K3 | 0.51114700 |
| 108 | CAMK1 | 0.50321242 |
| 109 | ARAF | 0.48995311 |
| 110 | MAPK15 | 0.48649022 |
| 111 | PRKAA1 | 0.48515708 |
| 112 | SGK3 | 0.48478357 |
| 113 | MARK2 | 0.47919984 |
| 114 | CAMK2G | 0.47684448 |
| 115 | DAPK3 | 0.47633620 |
| 116 | HIPK2 | 0.46579426 |
| 117 | RPS6KA2 | 0.46240559 |
| 118 | MAPK11 | 0.45602347 |
| 119 | SGK2 | 0.45425940 |
| 120 | MAPK10 | 0.43946383 |
| 121 | MAP3K2 | 0.43687743 |
| 122 | PDGFRB | 0.43224226 |
| 123 | MAP2K2 | 0.41913484 |
| 124 | MAPKAPK5 | 0.40421666 |
| 125 | KSR2 | 0.38413241 |
| 126 | PAK4 | 0.38370472 |
| 127 | MAP3K10 | 0.34736828 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Nitrogen metabolism_Homo sapiens_hsa00910 | 3.04912013 |
| 2 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 2.81800683 |
| 3 | Fatty acid degradation_Homo sapiens_hsa00071 | 2.50092655 |
| 4 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 2.23425370 |
| 5 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 2.22178539 |
| 6 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 2.18817774 |
| 7 | Arginine biosynthesis_Homo sapiens_hsa00220 | 2.09473617 |
| 8 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 2.09308428 |
| 9 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.02708018 |
| 10 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.94322462 |
| 11 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 1.82398338 |
| 12 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 1.80840568 |
| 13 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.79860821 |
| 14 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 1.77181589 |
| 15 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 1.77114009 |
| 16 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.76270459 |
| 17 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 1.69653023 |
| 18 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.63406402 |
| 19 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 1.53717402 |
| 20 | Bile secretion_Homo sapiens_hsa04976 | 1.47662027 |
| 21 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 1.42337260 |
| 22 | Long-term potentiation_Homo sapiens_hsa04720 | 1.40612745 |
| 23 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.36877132 |
| 24 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 1.35741719 |
| 25 | Notch signaling pathway_Homo sapiens_hsa04330 | 1.28333764 |
| 26 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.28149777 |
| 27 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.23176662 |
| 28 | ECM-receptor interaction_Homo sapiens_hsa04512 | 1.21517890 |
| 29 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 1.20892324 |
| 30 | Carbon metabolism_Homo sapiens_hsa01200 | 1.18849125 |
| 31 | Glioma_Homo sapiens_hsa05214 | 1.18384385 |
| 32 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.16271665 |
| 33 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 1.14309988 |
| 34 | Circadian rhythm_Homo sapiens_hsa04710 | 1.12874411 |
| 35 | Insulin resistance_Homo sapiens_hsa04931 | 1.12663186 |
| 36 | Peroxisome_Homo sapiens_hsa04146 | 1.09478266 |
| 37 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 1.08867723 |
| 38 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 1.07474921 |
| 39 | Lysine degradation_Homo sapiens_hsa00310 | 1.07132117 |
| 40 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.07019802 |
| 41 | Circadian entrainment_Homo sapiens_hsa04713 | 1.06557240 |
| 42 | Focal adhesion_Homo sapiens_hsa04510 | 1.04167558 |
| 43 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.02225912 |
| 44 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.01608599 |
| 45 | Melanogenesis_Homo sapiens_hsa04916 | 1.01383688 |
| 46 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 1.01042413 |
| 47 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.00495637 |
| 48 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.99900090 |
| 49 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.99032324 |
| 50 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.97255523 |
| 51 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.97161243 |
| 52 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.96252435 |
| 53 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.94732967 |
| 54 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 0.94243147 |
| 55 | Amoebiasis_Homo sapiens_hsa05146 | 0.89516522 |
| 56 | Cocaine addiction_Homo sapiens_hsa05030 | 0.89359260 |
| 57 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.88084053 |
| 58 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 0.88035487 |
| 59 | Histidine metabolism_Homo sapiens_hsa00340 | 0.87102426 |
| 60 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.86544406 |
| 61 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.86242835 |
| 62 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.85969835 |
| 63 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.84796234 |
| 64 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.83906239 |
| 65 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.82752588 |
| 66 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.81925435 |
| 67 | Renal cell carcinoma_Homo sapiens_hsa05211 | 0.81897392 |
| 68 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.80081607 |
| 69 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.79288693 |
| 70 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 0.78822208 |
| 71 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.78809240 |
| 72 | Gap junction_Homo sapiens_hsa04540 | 0.78557772 |
| 73 | ABC transporters_Homo sapiens_hsa02010 | 0.78537062 |
| 74 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.76939952 |
| 75 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.76406606 |
| 76 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 0.75946972 |
| 77 | Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750 | 0.75820170 |
| 78 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.75540645 |
| 79 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.74523126 |
| 80 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.74399433 |
| 81 | Tight junction_Homo sapiens_hsa04530 | 0.73937481 |
| 82 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.72737473 |
| 83 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.72588996 |
| 84 | Bladder cancer_Homo sapiens_hsa05219 | 0.70683957 |
| 85 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.70217513 |
| 86 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.69291643 |
| 87 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.69177735 |
| 88 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.68737016 |
| 89 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.68500909 |
| 90 | Other glycan degradation_Homo sapiens_hsa00511 | 0.68072083 |
| 91 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.68008234 |
| 92 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.67234242 |
| 93 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 0.67210089 |
| 94 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.67175083 |
| 95 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.66621621 |
| 96 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 0.65289870 |
| 97 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.64878418 |
| 98 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.64294882 |
| 99 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.63238721 |
| 100 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.63164045 |
| 101 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.62468356 |
| 102 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.62342207 |
| 103 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.60055268 |
| 104 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 0.59000729 |
| 105 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.58509889 |
| 106 | Axon guidance_Homo sapiens_hsa04360 | 0.58467981 |
| 107 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 0.57503592 |
| 108 | Endocytosis_Homo sapiens_hsa04144 | 0.56048119 |
| 109 | Insulin secretion_Homo sapiens_hsa04911 | 0.56022830 |
| 110 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.54968376 |
| 111 | Melanoma_Homo sapiens_hsa05218 | 0.54689893 |
| 112 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.54621940 |
| 113 | GABAergic synapse_Homo sapiens_hsa04727 | 0.54250658 |
| 114 | Endometrial cancer_Homo sapiens_hsa05213 | 0.53341870 |
| 115 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.53081730 |
| 116 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.52970343 |
| 117 | Prostate cancer_Homo sapiens_hsa05215 | 0.52584104 |
| 118 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.52325472 |
| 119 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 0.52040561 |
| 120 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.50624376 |
| 121 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.50480709 |
| 122 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.47804029 |
| 123 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.47679166 |
| 124 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.45863917 |
| 125 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 0.45118386 |
| 126 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.44930488 |
| 127 | Platelet activation_Homo sapiens_hsa04611 | 0.44670659 |
| 128 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.44375177 |
| 129 | Retinol metabolism_Homo sapiens_hsa00830 | 0.44010784 |
| 130 | Prion diseases_Homo sapiens_hsa05020 | 0.43539298 |
| 131 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.43164939 |
| 132 | Renin secretion_Homo sapiens_hsa04924 | 0.42214633 |
| 133 | Galactose metabolism_Homo sapiens_hsa00052 | 0.41375674 |
| 134 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.40714525 |
| 135 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.38750294 |
| 136 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.37721819 |
| 137 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.37145739 |
| 138 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.36839909 |
| 139 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.33695556 |
| 140 | Viral myocarditis_Homo sapiens_hsa05416 | 0.32392816 |
| 141 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.31494054 |
| 142 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.30645028 |
| 143 | Salivary secretion_Homo sapiens_hsa04970 | 0.30566393 |
| 144 | Adherens junction_Homo sapiens_hsa04520 | 0.29453039 |
| 145 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.28130196 |

