

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | central nervous system myelination (GO:0022010) | 6.18698181 |
| 2 | axon ensheathment in central nervous system (GO:0032291) | 6.18698181 |
| 3 | response to muscle activity (GO:0014850) | 5.08370191 |
| 4 | actin-myosin filament sliding (GO:0033275) | 4.87918148 |
| 5 | muscle filament sliding (GO:0030049) | 4.87918148 |
| 6 | fatty acid elongation (GO:0030497) | 4.31091362 |
| 7 | negative regulation of potassium ion transmembrane transporter activity (GO:1901017) | 4.30513474 |
| 8 | actin-mediated cell contraction (GO:0070252) | 4.21824209 |
| 9 | negative regulation of protein localization to cell surface (GO:2000009) | 4.20404950 |
| 10 | mitochondrial electron transport, NADH to ubiquinone (GO:0006120) | 4.07153288 |
| 11 | establishment of mitochondrion localization (GO:0051654) | 4.06769869 |
| 12 | axon ensheathment (GO:0008366) | 4.04958745 |
| 13 | ensheathment of neurons (GO:0007272) | 4.04958745 |
| 14 | myelination (GO:0042552) | 4.04310505 |
| 15 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 3.90545096 |
| 16 | heart process (GO:0003015) | 3.84145921 |
| 17 | heart contraction (GO:0060047) | 3.84145921 |
| 18 | regulation of skeletal muscle contraction (GO:0014819) | 3.83378870 |
| 19 | creatine metabolic process (GO:0006600) | 3.82769518 |
| 20 | cardiac cell development (GO:0055006) | 3.76284858 |
| 21 | regulation of calcineurin-NFAT signaling cascade (GO:0070884) | 3.75424236 |
| 22 | sarcoplasmic reticulum calcium ion transport (GO:0070296) | 3.75174544 |
| 23 | energy coupled proton transport, down electrochemical gradient (GO:0015985) | 3.74288085 |
| 24 | ATP synthesis coupled proton transport (GO:0015986) | 3.74288085 |
| 25 | regulation of cell communication by electrical coupling (GO:0010649) | 3.72806394 |
| 26 | cardiac muscle hypertrophy (GO:0003300) | 3.72480279 |
| 27 | skeletal muscle fiber development (GO:0048741) | 3.70884316 |
| 28 | muscle system process (GO:0003012) | 3.65741833 |
| 29 | negative regulation of potassium ion transmembrane transport (GO:1901380) | 3.64574224 |
| 30 | myotube cell development (GO:0014904) | 3.64125145 |
| 31 | * muscle cell cellular homeostasis (GO:0046716) | 3.59102320 |
| 32 | regulation of the force of heart contraction (GO:0002026) | 3.57018024 |
| 33 | substantia nigra development (GO:0021762) | 3.55150355 |
| 34 | long-chain fatty acid biosynthetic process (GO:0042759) | 3.54471263 |
| 35 | positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316) | 3.53895838 |
| 36 | striated muscle hypertrophy (GO:0014897) | 3.53894978 |
| 37 | skeletal muscle tissue development (GO:0007519) | 3.51434838 |
| 38 | muscle fiber development (GO:0048747) | 3.50802910 |
| 39 | muscle cell fate commitment (GO:0042693) | 3.50662195 |
| 40 | * sarcomere organization (GO:0045214) | 3.43620834 |
| 41 | plasma membrane repair (GO:0001778) | 3.43042493 |
| 42 | regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880) | 3.39692957 |
| 43 | respiratory electron transport chain (GO:0022904) | 3.37686333 |
| 44 | regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314) | 3.36468212 |
| 45 | myofibril assembly (GO:0030239) | 3.28339807 |
| 46 | regulation of relaxation of muscle (GO:1901077) | 3.28127138 |
| 47 | striated muscle cell development (GO:0055002) | 3.27662422 |
| 48 | electron transport chain (GO:0022900) | 3.27151168 |
| 49 | cholesterol biosynthetic process (GO:0006695) | 3.25159725 |
| 50 | membrane depolarization during cardiac muscle cell action potential (GO:0086012) | 3.15512970 |
| 51 | positive regulation of calcium ion transmembrane transporter activity (GO:1901021) | 3.13755739 |
| 52 | adult heart development (GO:0007512) | 3.13488033 |
| 53 | muscle structure development (GO:0061061) | 3.12976334 |
| 54 | muscle organ development (GO:0007517) | 3.10512209 |
| 55 | actin filament-based movement (GO:0030048) | 3.07453402 |
| 56 | skeletal muscle contraction (GO:0003009) | 3.06134723 |
| 57 | pyrimidine nucleobase catabolic process (GO:0006208) | 3.04056293 |
| 58 | negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315) | 3.00588401 |
| 59 | photoreceptor cell differentiation (GO:0046530) | 2.99422945 |
| 60 | eye photoreceptor cell differentiation (GO:0001754) | 2.99422945 |
| 61 | cardiac myofibril assembly (GO:0055003) | 2.99176176 |
| 62 | response to stimulus involved in regulation of muscle adaptation (GO:0014874) | 2.98970591 |
| 63 | regulation of collateral sprouting (GO:0048670) | 2.97386309 |
| 64 | apical protein localization (GO:0045176) | 2.97003136 |
| 65 | muscle hypertrophy (GO:0014896) | 2.96181506 |
| 66 | skeletal muscle adaptation (GO:0043501) | 2.95240209 |
| 67 | regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO | 2.92928483 |
| 68 | myelin maintenance (GO:0043217) | 2.92069878 |
| 69 | protein neddylation (GO:0045116) | 2.91979632 |
| 70 | negative regulation of calcium ion transmembrane transport (GO:1903170) | 2.91908970 |
| 71 | negative regulation of calcium ion transmembrane transporter activity (GO:1901020) | 2.91908970 |
| 72 | cerebral cortex radially oriented cell migration (GO:0021799) | 2.91884814 |
| 73 | limb bud formation (GO:0060174) | 2.91070067 |
| 74 | striated muscle adaptation (GO:0014888) | 2.89892206 |
| 75 | sterol biosynthetic process (GO:0016126) | 2.89267541 |
| 76 | mitochondrion transport along microtubule (GO:0047497) | 2.89079837 |
| 77 | establishment of mitochondrion localization, microtubule-mediated (GO:0034643) | 2.89079837 |
| 78 | glucan biosynthetic process (GO:0009250) | 2.87702938 |
| 79 | glycogen biosynthetic process (GO:0005978) | 2.87702938 |
| 80 | asymmetric protein localization (GO:0008105) | 2.87519014 |
| 81 | glycogen catabolic process (GO:0005980) | 2.87048999 |
| 82 | regulation of calcium ion transmembrane transporter activity (GO:1901019) | 2.85235272 |
| 83 | regulation of calcium ion transmembrane transport (GO:1903169) | 2.85235272 |
| 84 | chaperone-mediated protein transport (GO:0072321) | 2.83902147 |
| 85 | peripheral nervous system axon ensheathment (GO:0032292) | 2.79849685 |
| 86 | myelination in peripheral nervous system (GO:0022011) | 2.79849685 |
| 87 | regulation of muscle system process (GO:0090257) | 2.78271530 |
| 88 | regulation of actin filament-based movement (GO:1903115) | 2.77460310 |
| 89 | regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510) | 2.77453547 |
| 90 | muscle cell development (GO:0055001) | 2.76742564 |
| 91 | myoblast fusion (GO:0007520) | 2.75087806 |
| 92 | neuron cell-cell adhesion (GO:0007158) | 2.73900698 |
| 93 | striated muscle tissue development (GO:0014706) | 2.73459873 |
| 94 | negative regulation of neurotransmitter secretion (GO:0046929) | 2.72994371 |
| 95 | cell migration in hindbrain (GO:0021535) | 2.72321378 |
| 96 | relaxation of muscle (GO:0090075) | 2.71503281 |
| 97 | neuronal action potential propagation (GO:0019227) | 2.70907161 |
| 98 | negative regulation of neurotransmitter transport (GO:0051589) | 2.70758199 |
| 99 | regulation of muscle contraction (GO:0006937) | 2.70637060 |
| 100 | astrocyte development (GO:0014002) | 2.69831647 |
| 101 | regulation of membrane repolarization (GO:0060306) | 2.68566103 |
| 102 | glycerophospholipid catabolic process (GO:0046475) | 2.68320264 |
| 103 | ventricular cardiac muscle tissue morphogenesis (GO:0055010) | 2.67257129 |
| 104 | positive regulation of myoblast differentiation (GO:0045663) | 2.65311785 |
| 105 | regulation of acyl-CoA biosynthetic process (GO:0050812) | 2.64727715 |
| 106 | striated muscle contraction (GO:0006941) | 2.63437183 |
| 107 | regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307) | 2.63161501 |
| 108 | regulation of sarcomere organization (GO:0060297) | 2.60760454 |
| 109 | oligodendrocyte differentiation (GO:0048709) | 2.58709808 |
| 110 | lipid particle organization (GO:0034389) | 2.58356030 |
| 111 | regulation of ATPase activity (GO:0043462) | 2.57571769 |
| 112 | regulation of ATP catabolic process (GO:1903289) | 2.57571769 |
| 113 | neuromuscular synaptic transmission (GO:0007274) | 2.56851808 |
| 114 | detection of calcium ion (GO:0005513) | 2.56726592 |
| 115 | glucan catabolic process (GO:0009251) | 2.56053592 |
| 116 | muscle tissue development (GO:0060537) | 2.56051876 |
| 117 | response to redox state (GO:0051775) | 2.54761191 |
| 118 | cardiac muscle hypertrophy in response to stress (GO:0014898) | 2.54371352 |
| 119 | muscle hypertrophy in response to stress (GO:0003299) | 2.54371352 |
| 120 | cardiac muscle adaptation (GO:0014887) | 2.54371352 |
| 121 | NADH metabolic process (GO:0006734) | 2.53725777 |
| 122 | regulation of potassium ion transmembrane transporter activity (GO:1901016) | 2.53632243 |
| 123 | cardiac muscle tissue morphogenesis (GO:0055008) | 2.53581476 |
| 124 | regulation of myoblast differentiation (GO:0045661) | 2.53532677 |
| 125 | * actomyosin structure organization (GO:0031032) | 2.53359919 |
| 126 | regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882) | 2.52415940 |
| 127 | positive regulation of potassium ion transmembrane transporter activity (GO:1901018) | 2.51969329 |
| 128 | presynaptic membrane organization (GO:0097090) | 2.51812795 |
| 129 | regulation of striated muscle contraction (GO:0006942) | 2.50418731 |
| 130 | regulation of cardiac muscle contraction (GO:0055117) | 2.50216711 |
| 131 | membrane assembly (GO:0071709) | 2.50124516 |
| 132 | neural nucleus development (GO:0048857) | 2.49720967 |
| 133 | neuron recognition (GO:0008038) | 2.48683858 |
| 134 | dendrite morphogenesis (GO:0048813) | 2.47888323 |
| 135 | cardiac muscle cell development (GO:0055013) | 2.47706470 |
| 136 | tricarboxylic acid cycle (GO:0006099) | 2.46985664 |
| 137 | positive regulation of action potential (GO:0045760) | 2.46947982 |
| 138 | skeletal muscle tissue regeneration (GO:0043403) | 2.46774375 |
| 139 | striated muscle atrophy (GO:0014891) | 2.46204883 |
| 140 | relaxation of cardiac muscle (GO:0055119) | 2.44763913 |
| 141 | muscle tissue morphogenesis (GO:0060415) | 2.43788234 |
| 142 | myotube differentiation (GO:0014902) | 2.42911247 |
| 143 | presynaptic membrane assembly (GO:0097105) | 2.42864361 |
| 144 | positive regulation of cation channel activity (GO:2001259) | 2.42637570 |
| 145 | response to activity (GO:0014823) | 2.42555101 |
| 146 | response to caffeine (GO:0031000) | 2.42436671 |
| 147 | cellular response to epinephrine stimulus (GO:0071872) | 2.41844494 |
| 148 | negative regulation of axonogenesis (GO:0050771) | 2.41836349 |
| 149 | positive regulation of potassium ion transport (GO:0043268) | 2.41256820 |
| 150 | short-term memory (GO:0007614) | 2.40758620 |
| 151 | muscle contraction (GO:0006936) | 2.40451885 |
| 152 | response to epinephrine (GO:0071871) | 2.40266130 |
| 153 | positive regulation of mitochondrial calcium ion concentration (GO:0051561) | 2.40021100 |
| 154 | muscle atrophy (GO:0014889) | 2.39444400 |
| 155 | response to inactivity (GO:0014854) | 2.37911262 |
| 156 | cardiac muscle contraction (GO:0060048) | 2.37527438 |
| 157 | negative regulation of JUN kinase activity (GO:0043508) | 2.36097364 |
| 158 | neuromuscular junction development (GO:0007528) | 2.35422574 |
| 159 | regulation of coenzyme metabolic process (GO:0051196) | 2.35003379 |
| 160 | regulation of cofactor metabolic process (GO:0051193) | 2.35003379 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.96629551 |
| 2 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.82187205 |
| 3 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.52872506 |
| 4 | SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 2.32082213 |
| 5 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 2.29153442 |
| 6 | * SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 2.28453771 |
| 7 | SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 2.26527242 |
| 8 | EP300_21415370_ChIP-Seq_HL-1_Mouse | 2.14913037 |
| 9 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 2.13594473 |
| 10 | EZH2_18974828_ChIP-Seq_MESCs_Mouse | 2.11334539 |
| 11 | RNF2_18974828_ChIP-Seq_MESCs_Mouse | 2.11334539 |
| 12 | TAF15_26573619_Chip-Seq_HEK293_Human | 2.10152181 |
| 13 | SUZ12_18692474_ChIP-Seq_MEFs_Mouse | 2.07607055 |
| 14 | SMAD_19615063_ChIP-ChIP_OVARY_Human | 2.07056413 |
| 15 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 2.01488281 |
| 16 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 1.95103531 |
| 17 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.91494734 |
| 18 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.91042177 |
| 19 | OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.87222796 |
| 20 | MTF2_20144788_ChIP-Seq_MESCs_Mouse | 1.86417759 |
| 21 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.83483998 |
| 22 | WT1_19549856_ChIP-ChIP_CCG9911_Human | 1.82165832 |
| 23 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.80506988 |
| 24 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.80368039 |
| 25 | SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 1.79869761 |
| 26 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.79476432 |
| 27 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 1.79250448 |
| 28 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 1.78399758 |
| 29 | SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 1.78258507 |
| 30 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.75238296 |
| 31 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.72946682 |
| 32 | PHC1_16625203_ChIP-ChIP_MESCs_Mouse | 1.71514634 |
| 33 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.71440222 |
| 34 | SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 1.67604450 |
| 35 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.66822155 |
| 36 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.61154734 |
| 37 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.60467905 |
| 38 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.58960085 |
| 39 | CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse | 1.57883416 |
| 40 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.54045840 |
| 41 | VDR_22108803_ChIP-Seq_LS180_Human | 1.53897328 |
| 42 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.53684459 |
| 43 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.53205752 |
| 44 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 1.52080047 |
| 45 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.51823568 |
| 46 | RNF2_27304074_Chip-Seq_ESCs_Mouse | 1.51700468 |
| 47 | * ER_23166858_ChIP-Seq_MCF-7_Human | 1.51697986 |
| 48 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.51402632 |
| 49 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.51035605 |
| 50 | BRD4_25478319_ChIP-Seq_HGPS_Human | 1.47370758 |
| 51 | RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 1.47242145 |
| 52 | * ZNF274_21170338_ChIP-Seq_K562_Hela | 1.45739546 |
| 53 | FUS_26573619_Chip-Seq_HEK293_Human | 1.44699986 |
| 54 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.43828568 |
| 55 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.43710343 |
| 56 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.42509686 |
| 57 | * SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.41440680 |
| 58 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.39313520 |
| 59 | NFE2L2_20460467_ChIP-Seq_MEFs_Mouse | 1.39013926 |
| 60 | NRF2_20460467_ChIP-Seq_MEFs_Mouse | 1.39013926 |
| 61 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.36531514 |
| 62 | P300_19829295_ChIP-Seq_ESCs_Human | 1.34734102 |
| 63 | * CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.31785807 |
| 64 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.30641820 |
| 65 | TBX20_22328084_ChIP-Seq_HEART_Mouse | 1.29537708 |
| 66 | TBX20_22080862_ChIP-Seq_HEART_Mouse | 1.29537708 |
| 67 | ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 1.25717910 |
| 68 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.25550700 |
| 69 | TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse | 1.24058824 |
| 70 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.24030058 |
| 71 | NR3C1_23031785_ChIP-Seq_PC12_Mouse | 1.23473349 |
| 72 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 1.23045022 |
| 73 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.21454062 |
| 74 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.20839495 |
| 75 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.20426508 |
| 76 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.19186802 |
| 77 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.18235065 |
| 78 | SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse | 1.18088497 |
| 79 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.16496679 |
| 80 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.15812873 |
| 81 | GATA4_21415370_ChIP-Seq_HL-1_Mouse | 1.15810949 |
| 82 | EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse | 1.15567765 |
| 83 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.15514911 |
| 84 | SOX2_21211035_ChIP-Seq_LN229_Gbm | 1.14479720 |
| 85 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.13392028 |
| 86 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.12755041 |
| 87 | TP53_16413492_ChIP-PET_HCT116_Human | 1.12501878 |
| 88 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 1.11590313 |
| 89 | MEF2A_21415370_ChIP-Seq_HL-1_Mouse | 1.10756497 |
| 90 | P53_22387025_ChIP-Seq_ESCs_Mouse | 1.09723897 |
| 91 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 1.09456426 |
| 92 | TCF4_23295773_ChIP-Seq_U87_Human | 1.08794293 |
| 93 | * KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.07348116 |
| 94 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.06860376 |
| 95 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.06860376 |
| 96 | NR1I2_20693526_ChIP-Seq_LIVER_Mouse | 1.05711469 |
| 97 | EWS_26573619_Chip-Seq_HEK293_Human | 1.04586973 |
| 98 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.03289918 |
| 99 | E2F1_18555785_Chip-Seq_ESCs_Mouse | 1.02616553 |
| 100 | * FOXM1_26456572_ChIP-Seq_MCF-7_Human | 1.01776476 |
| 101 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.01631992 |
| 102 | STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse | 1.01287648 |
| 103 | ESR1_22446102_ChIP-Seq_UTERUS_Mouse | 1.01281626 |
| 104 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.01243556 |
| 105 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.00427160 |
| 106 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.00133635 |
| 107 | STAT3_23295773_ChIP-Seq_U87_Human | 0.99531106 |
| 108 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 0.98415826 |
| 109 | * RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 0.97972439 |
| 110 | HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse | 0.96879710 |
| 111 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 0.95867213 |
| 112 | REST_21632747_ChIP-Seq_MESCs_Mouse | 0.95728765 |
| 113 | * MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 0.95249366 |
| 114 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 0.95005564 |
| 115 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 0.94422947 |
| 116 | * SOX9_26525672_Chip-Seq_Limbbuds_Mouse | 0.93615506 |
| 117 | NANOG_19829295_ChIP-Seq_ESCs_Human | 0.93580185 |
| 118 | SOX2_19829295_ChIP-Seq_ESCs_Human | 0.93580185 |
| 119 | JUN_21703547_ChIP-Seq_K562_Human | 0.92370219 |
| 120 | AHR_22903824_ChIP-Seq_MCF-7_Human | 0.92186112 |
| 121 | FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse | 0.92041976 |
| 122 | RING1B_27294783_Chip-Seq_ESCs_Mouse | 0.91262642 |
| 123 | AR_25329375_ChIP-Seq_VCAP_Human | 0.91103703 |
| 124 | DROSHA_22980978_ChIP-Seq_HELA_Human | 0.90949944 |
| 125 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.90245083 |
| 126 | REST_18959480_ChIP-ChIP_MESCs_Mouse | 0.90062725 |
| 127 | EOMES_21245162_ChIP-Seq_HESCs_Human | 0.89808933 |
| 128 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 0.89276252 |
| 129 | CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human | 0.88741066 |
| 130 | LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.88004101 |
| 131 | * CJUN_26792858_Chip-Seq_BT549_Human | 0.87552621 |
| 132 | SOX9_26525672_Chip-Seq_HEART_Mouse | 0.86485299 |
| 133 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 0.86291531 |
| 134 | P53_22127205_ChIP-Seq_FIBROBLAST_Human | 0.85979928 |
| 135 | HTT_18923047_ChIP-ChIP_STHdh_Human | 0.85502807 |
| 136 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 0.85497521 |
| 137 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 0.85496656 |
| 138 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 0.84788641 |
| 139 | RUNX2_22187159_ChIP-Seq_PCA_Human | 0.84737934 |
| 140 | RING1B_27294783_Chip-Seq_NPCs_Mouse | 0.84720441 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0000751_myopathy | 3.58237473 |
| 2 | MP0000749_muscle_degeneration | 3.34041089 |
| 3 | MP0004145_abnormal_muscle_electrophysio | 3.33928666 |
| 4 | MP0004270_analgesia | 3.04932054 |
| 5 | MP0002837_dystrophic_cardiac_calcinosis | 3.02781503 |
| 6 | MP0004036_abnormal_muscle_relaxation | 2.66367836 |
| 7 | MP0003950_abnormal_plasma_membrane | 2.51070529 |
| 8 | MP0000747_muscle_weakness | 2.47268331 |
| 9 | MP0004084_abnormal_cardiac_muscle | 2.40197410 |
| 10 | MP0000920_abnormal_myelination | 2.34900435 |
| 11 | MP0009780_abnormal_chondrocyte_physiolo | 2.31446959 |
| 12 | MP0003880_abnormal_central_pattern | 2.27425833 |
| 13 | MP0003646_muscle_fatigue | 2.18583471 |
| 14 | MP0004215_abnormal_myocardial_fiber | 1.96399930 |
| 15 | MP0005620_abnormal_muscle_contractility | 1.94962785 |
| 16 | MP0002106_abnormal_muscle_physiology | 1.94021764 |
| 17 | MP0004087_abnormal_muscle_fiber | 1.90044983 |
| 18 | MP0001529_abnormal_vocalization | 1.87121515 |
| 19 | MP0005330_cardiomyopathy | 1.85671142 |
| 20 | MP0000778_abnormal_nervous_system | 1.79677545 |
| 21 | MP0000759_abnormal_skeletal_muscle | 1.78874631 |
| 22 | MP0002734_abnormal_mechanical_nocicepti | 1.77163003 |
| 23 | MP0005369_muscle_phenotype | 1.76893998 |
| 24 | MP0003137_abnormal_impulse_conducting | 1.70692677 |
| 25 | MP0005171_absent_coat_pigmentation | 1.68732060 |
| 26 | MP0000750_abnormal_muscle_regeneration | 1.66078525 |
| 27 | MP0002972_abnormal_cardiac_muscle | 1.64649127 |
| 28 | MP0002269_muscular_atrophy | 1.62026512 |
| 29 | MP0001299_abnormal_eye_distance/ | 1.60913667 |
| 30 | MP0006276_abnormal_autonomic_nervous | 1.56292666 |
| 31 | MP0005623_abnormal_meninges_morphology | 1.47713371 |
| 32 | MP0001905_abnormal_dopamine_level | 1.45157488 |
| 33 | MP0008438_abnormal_cutaneous_collagen | 1.42739497 |
| 34 | MP0003329_amyloid_beta_deposits | 1.40136000 |
| 35 | MP0004142_abnormal_muscle_tone | 1.39307611 |
| 36 | MP0004233_abnormal_muscle_weight | 1.37466066 |
| 37 | MP0004859_abnormal_synaptic_plasticity | 1.34139371 |
| 38 | MP0010368_abnormal_lymphatic_system | 1.33619827 |
| 39 | MP0002127_abnormal_cardiovascular_syste | 1.33364612 |
| 40 | MP0002272_abnormal_nervous_system | 1.32874186 |
| 41 | MP0002108_abnormal_muscle_morphology | 1.32770985 |
| 42 | MP0004130_abnormal_muscle_cell | 1.32095350 |
| 43 | MP0004484_altered_response_of | 1.30311273 |
| 44 | MP0009250_abnormal_appendicular_skeleto | 1.30100101 |
| 45 | MP0008775_abnormal_heart_ventricle | 1.28170288 |
| 46 | MP0001440_abnormal_grooming_behavior | 1.27672980 |
| 47 | MP0004085_abnormal_heartbeat | 1.26744234 |
| 48 | MP0001486_abnormal_startle_reflex | 1.23936592 |
| 49 | MP0002735_abnormal_chemical_nociception | 1.23155513 |
| 50 | MP0003634_abnormal_glial_cell | 1.21868921 |
| 51 | MP0003221_abnormal_cardiomyocyte_apopto | 1.21841059 |
| 52 | MP0003635_abnormal_synaptic_transmissio | 1.17105105 |
| 53 | MP0009046_muscle_twitch | 1.16271136 |
| 54 | MP0000013_abnormal_adipose_tissue | 1.16093543 |
| 55 | MP0000955_abnormal_spinal_cord | 1.14831907 |
| 56 | MP0002064_seizures | 1.13946930 |
| 57 | MP0006138_congestive_heart_failure | 1.13573685 |
| 58 | MP0002184_abnormal_innervation | 1.12088880 |
| 59 | MP0004134_abnormal_chest_morphology | 1.11215097 |
| 60 | MP0003279_aneurysm | 1.11145050 |
| 61 | MP0001661_extended_life_span | 1.10803117 |
| 62 | MP0001485_abnormal_pinna_reflex | 1.09526354 |
| 63 | MP0004742_abnormal_vestibular_system | 1.08288557 |
| 64 | MP0004510_myositis | 1.08284170 |
| 65 | MP0003122_maternal_imprinting | 1.05078107 |
| 66 | MP0004272_abnormal_basement_membrane | 1.03708584 |
| 67 | MP0005386_behavior/neurological_phenoty | 1.03296404 |
| 68 | MP0004924_abnormal_behavior | 1.03296404 |
| 69 | MP0005423_abnormal_somatic_nervous | 1.02425273 |
| 70 | MP0004885_abnormal_endolymph | 1.01577396 |
| 71 | MP0002234_abnormal_pharynx_morphology | 1.01556289 |
| 72 | MP0002882_abnormal_neuron_morphology | 0.99990158 |
| 73 | MP0000733_abnormal_muscle_development | 0.99783614 |
| 74 | MP0005503_abnormal_tendon_morphology | 0.98829165 |
| 75 | MP0004147_increased_porphyrin_level | 0.98758970 |
| 76 | MP0005187_abnormal_penis_morphology | 0.98263846 |
| 77 | MP0005451_abnormal_body_composition | 0.97947905 |
| 78 | MP0006036_abnormal_mitochondrial_physio | 0.96610661 |
| 79 | MP0005385_cardiovascular_system_phenoty | 0.96532936 |
| 80 | MP0001544_abnormal_cardiovascular_syste | 0.96532936 |
| 81 | MP0002332_abnormal_exercise_endurance | 0.96500586 |
| 82 | MP0002067_abnormal_sensory_capabilities | 0.96191859 |
| 83 | MP0001970_abnormal_pain_threshold | 0.95100738 |
| 84 | MP0009745_abnormal_behavioral_response | 0.94557819 |
| 85 | MP0002733_abnormal_thermal_nociception | 0.93093150 |
| 86 | MP0002063_abnormal_learning/memory/cond | 0.92601587 |
| 87 | MP0003385_abnormal_body_wall | 0.92289509 |
| 88 | MP0002066_abnormal_motor_capabilities/c | 0.91607021 |
| 89 | MP0005266_abnormal_metabolism | 0.90275077 |
| 90 | MP0004043_abnormal_pH_regulation | 0.89893201 |
| 91 | MP0002752_abnormal_somatic_nervous | 0.89338004 |
| 92 | MP0002229_neurodegeneration | 0.88780735 |
| 93 | MP0003690_abnormal_glial_cell | 0.88612231 |
| 94 | MP0010630_abnormal_cardiac_muscle | 0.87763486 |
| 95 | MP0000762_abnormal_tongue_morphology | 0.87687069 |
| 96 | MP0003705_abnormal_hypodermis_morpholog | 0.87535848 |
| 97 | MP0003937_abnormal_limbs/digits/tail_de | 0.86545142 |
| 98 | MP0009384_cardiac_valve_regurgitation | 0.86457982 |
| 99 | MP0000003_abnormal_adipose_tissue | 0.85769193 |
| 100 | MP0002572_abnormal_emotion/affect_behav | 0.82254114 |
| 101 | MP0003136_yellow_coat_color | 0.82200516 |
| 102 | MP0001958_emphysema | 0.80763538 |
| 103 | MP0001968_abnormal_touch/_nociception | 0.78058204 |
| 104 | MP0000462_abnormal_digestive_system | 0.78028263 |
| 105 | MP0000537_abnormal_urethra_morphology | 0.77922923 |
| 106 | MP0001542_abnormal_bone_strength | 0.76038312 |
| 107 | MP0002102_abnormal_ear_morphology | 0.74952262 |
| 108 | MP0009697_abnormal_copulation | 0.73677377 |
| 109 | MP0002971_abnormal_brown_adipose | 0.73523220 |
| 110 | MP0003632_abnormal_nervous_system | 0.73502541 |
| 111 | MP0003941_abnormal_skin_development | 0.72437677 |
| 112 | MP0005275_abnormal_skin_tensile | 0.71626717 |
| 113 | MP0010030_abnormal_orbit_morphology | 0.71358530 |
| 114 | MP0008569_lethality_at_weaning | 0.70988638 |
| 115 | MP0000767_abnormal_smooth_muscle | 0.69868976 |
| 116 | MP0000534_abnormal_ureter_morphology | 0.69462520 |
| 117 | MP0003755_abnormal_palate_morphology | 0.68778083 |
| 118 | MP0000372_irregular_coat_pigmentation | 0.68291447 |
| 119 | MP0000266_abnormal_heart_morphology | 0.66369184 |
| 120 | MP0000579_abnormal_nail_morphology | 0.66007023 |
| 121 | MP0005595_abnormal_vascular_smooth | 0.65549540 |
| 122 | MP0002128_abnormal_blood_circulation | 0.64953733 |
| 123 | MP0005670_abnormal_white_adipose | 0.64269557 |
| 124 | MP0002295_abnormal_pulmonary_circulatio | 0.62722258 |
| 125 | MP0001984_abnormal_olfaction | 0.62577240 |
| 126 | MP0003045_fibrosis | 0.59155574 |
| 127 | MP0010386_abnormal_urinary_bladder | 0.57650390 |
| 128 | MP0001879_abnormal_lymphatic_vessel | 0.57371341 |
| 129 | MP0005165_increased_susceptibility_to | 0.57080220 |
| 130 | MP0002114_abnormal_axial_skeleton | 0.57068068 |
| 131 | MP0002896_abnormal_bone_mineralization | 0.56769910 |
| 132 | MP0002638_abnormal_pupillary_reflex | 0.52561192 |
| 133 | MP0000230_abnormal_systemic_arterial | 0.52466315 |
| 134 | MP0003942_abnormal_urinary_system | 0.49168941 |
| 135 | MP0006054_spinal_hemorrhage | 0.46975706 |
| 136 | MP0005332_abnormal_amino_acid | 0.45155883 |
| 137 | MP0002168_other_aberrant_phenotype | 0.42707431 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Exercise-induced myalgia (HP:0003738) | 4.69960102 |
| 2 | Muscle hypertrophy of the lower extremities (HP:0008968) | 4.63254581 |
| 3 | Muscle fiber splitting (HP:0003555) | 4.61978020 |
| 4 | * Muscle fiber inclusion bodies (HP:0100299) | 4.46615893 |
| 5 | Calf muscle hypertrophy (HP:0008981) | 4.29954442 |
| 6 | * Muscle fiber cytoplasmatic inclusion bodies (HP:0100303) | 4.26954286 |
| 7 | Hyporeflexia of lower limbs (HP:0002600) | 4.20814544 |
| 8 | Exercise-induced muscle cramps (HP:0003710) | 4.18087459 |
| 9 | Type 1 muscle fiber predominance (HP:0003803) | 3.85646140 |
| 10 | * Nemaline bodies (HP:0003798) | 3.82982068 |
| 11 | Bundle branch block (HP:0011710) | 3.68258547 |
| 12 | Distal arthrogryposis (HP:0005684) | 3.62854752 |
| 13 | Abnormality of the calf musculature (HP:0001430) | 3.61870822 |
| 14 | Atrophy/Degeneration involving the corticospinal tracts (HP:0007372) | 3.52186309 |
| 15 | Degeneration of the lateral corticospinal tracts (HP:0002314) | 3.52186309 |
| 16 | EMG: myopathic abnormalities (HP:0003458) | 3.50968276 |
| 17 | Pheochromocytoma (HP:0002666) | 3.48370153 |
| 18 | Increased serum pyruvate (HP:0003542) | 3.45381132 |
| 19 | Abnormality of glycolysis (HP:0004366) | 3.45381132 |
| 20 | Popliteal pterygium (HP:0009756) | 3.45331241 |
| 21 | Round ear (HP:0100830) | 3.24820299 |
| 22 | Sudden death (HP:0001699) | 3.19467672 |
| 23 | Neuroendocrine neoplasm (HP:0100634) | 3.16777548 |
| 24 | Malignant hyperthermia (HP:0002047) | 3.10446282 |
| 25 | Difficulty running (HP:0009046) | 3.09378845 |
| 26 | Type 2 muscle fiber atrophy (HP:0003554) | 3.08137439 |
| 27 | Acute necrotizing encephalopathy (HP:0006965) | 2.99188319 |
| 28 | Termporal pattern (HP:0011008) | 2.99126957 |
| 29 | Insidious onset (HP:0003587) | 2.99126957 |
| 30 | Asymmetric septal hypertrophy (HP:0001670) | 2.96683333 |
| 31 | Myotonia (HP:0002486) | 2.90238197 |
| 32 | Abnormality of the neuromuscular junction (HP:0003398) | 2.89449685 |
| 33 | Fatigable weakness (HP:0003473) | 2.89449685 |
| 34 | Distal lower limb muscle weakness (HP:0009053) | 2.89192416 |
| 35 | Abnormality of the corticospinal tract (HP:0002492) | 2.83526223 |
| 36 | Weak cry (HP:0001612) | 2.81976653 |
| 37 | Areflexia of lower limbs (HP:0002522) | 2.79342329 |
| 38 | Rimmed vacuoles (HP:0003805) | 2.71573367 |
| 39 | Abnormal mitochondria in muscle tissue (HP:0008316) | 2.69920077 |
| 40 | Foot dorsiflexor weakness (HP:0009027) | 2.69092973 |
| 41 | Muscle stiffness (HP:0003552) | 2.65229597 |
| 42 | Calcaneovalgus deformity (HP:0001848) | 2.61854250 |
| 43 | Muscle fiber atrophy (HP:0100295) | 2.60798811 |
| 44 | Frequent falls (HP:0002359) | 2.59793762 |
| 45 | Abnormality of the foot musculature (HP:0001436) | 2.58938055 |
| 46 | Progressive macrocephaly (HP:0004481) | 2.57733034 |
| 47 | Neurofibrillary tangles (HP:0002185) | 2.56385906 |
| 48 | Myopathic facies (HP:0002058) | 2.54194838 |
| 49 | Increased variability in muscle fiber diameter (HP:0003557) | 2.52947152 |
| 50 | Mildly elevated creatine phosphokinase (HP:0008180) | 2.52094688 |
| 51 | EMG: neuropathic changes (HP:0003445) | 2.50308869 |
| 52 | Acute encephalopathy (HP:0006846) | 2.49161151 |
| 53 | Absent phalangeal crease (HP:0006109) | 2.46849086 |
| 54 | Abnormality of placental membranes (HP:0011409) | 2.45128651 |
| 55 | Amniotic constriction ring (HP:0009775) | 2.45128651 |
| 56 | Limb-girdle muscle atrophy (HP:0003797) | 2.44230780 |
| 57 | Myoglobinuria (HP:0002913) | 2.43526508 |
| 58 | Aplasia of the musculature (HP:0100854) | 2.42937258 |
| 59 | Deformed tarsal bones (HP:0008119) | 2.41552922 |
| 60 | Hip contracture (HP:0003273) | 2.35435459 |
| 61 | Abnormality of skeletal muscle fiber size (HP:0012084) | 2.35282797 |
| 62 | Fetal akinesia sequence (HP:0001989) | 2.34225105 |
| 63 | Generalized muscle weakness (HP:0003324) | 2.31011571 |
| 64 | Myokymia (HP:0002411) | 2.29384710 |
| 65 | Steppage gait (HP:0003376) | 2.28979923 |
| 66 | Sensory axonal neuropathy (HP:0003390) | 2.28642560 |
| 67 | * Gowers sign (HP:0003391) | 2.27917971 |
| 68 | Leukodystrophy (HP:0002415) | 2.25942168 |
| 69 | * Neck muscle weakness (HP:0000467) | 2.25889798 |
| 70 | Aortic aneurysm (HP:0004942) | 2.25009259 |
| 71 | Akinesia (HP:0002304) | 2.22186691 |
| 72 | Scapular winging (HP:0003691) | 2.20900741 |
| 73 | Heart block (HP:0012722) | 2.19805988 |
| 74 | Mitochondrial inheritance (HP:0001427) | 2.18487905 |
| 75 | Slender build (HP:0001533) | 2.14970811 |
| 76 | Increased connective tissue (HP:0009025) | 2.14058901 |
| 77 | Abnormal atrioventricular conduction (HP:0005150) | 2.10819953 |
| 78 | Ankle clonus (HP:0011448) | 2.10691799 |
| 79 | Atrial fibrillation (HP:0005110) | 2.09863992 |
| 80 | Limited hip movement (HP:0008800) | 2.09552352 |
| 81 | Left ventricular hypertrophy (HP:0001712) | 2.06968433 |
| 82 | Ventricular arrhythmia (HP:0004308) | 2.05508790 |
| 83 | Proximal amyotrophy (HP:0007126) | 2.03550766 |
| 84 | Abnormal finger flexion creases (HP:0006143) | 2.01622799 |
| 85 | Long clavicles (HP:0000890) | 2.00923306 |
| 86 | Onion bulb formation (HP:0003383) | 2.00328636 |
| 87 | Lipoatrophy (HP:0100578) | 1.96144293 |
| 88 | Primary atrial arrhythmia (HP:0001692) | 1.95884373 |
| 89 | Abnormality of the shoulder girdle musculature (HP:0001435) | 1.95074776 |
| 90 | Shoulder girdle muscle weakness (HP:0003547) | 1.92593548 |
| 91 | Difficulty climbing stairs (HP:0003551) | 1.90841459 |
| 92 | Increased CSF lactate (HP:0002490) | 1.88947559 |
| 93 | Abnormality of the calcaneus (HP:0008364) | 1.88137912 |
| 94 | Cerebral hemorrhage (HP:0001342) | 1.87629183 |
| 95 | Cerebral inclusion bodies (HP:0100314) | 1.87458884 |
| 96 | Hypoplastic heart (HP:0001961) | 1.86487687 |
| 97 | Spastic gait (HP:0002064) | 1.86241268 |
| 98 | Centrally nucleated skeletal muscle fibers (HP:0003687) | 1.86132189 |
| 99 | Bulbar palsy (HP:0001283) | 1.85602249 |
| 100 | Parakeratosis (HP:0001036) | 1.85506595 |
| 101 | Peripheral hypomyelination (HP:0007182) | 1.83326795 |
| 102 | Spinal rigidity (HP:0003306) | 1.82935374 |
| 103 | Muscular dystrophy (HP:0003560) | 1.82699384 |
| 104 | Supraventricular tachycardia (HP:0004755) | 1.82160880 |
| 105 | Rhabdomyolysis (HP:0003201) | 1.81846364 |
| 106 | Hepatocellular necrosis (HP:0001404) | 1.81708969 |
| 107 | Dilated cardiomyopathy (HP:0001644) | 1.81129950 |
| 108 | Ventricular tachycardia (HP:0004756) | 1.80493388 |
| 109 | Abnormal auditory evoked potentials (HP:0006958) | 1.79426029 |
| 110 | Ulnar claw (HP:0001178) | 1.79229369 |
| 111 | Lower limb muscle weakness (HP:0007340) | 1.79151799 |
| 112 | Cerebral edema (HP:0002181) | 1.78915866 |
| 113 | Supraventricular arrhythmia (HP:0005115) | 1.78234094 |
| 114 | * Respiratory insufficiency due to muscle weakness (HP:0002747) | 1.78233635 |
| 115 | Abnormality of the hip-girdle musculature (HP:0001445) | 1.78027868 |
| 116 | Abnormality of the musculature of the pelvis (HP:0001469) | 1.78027868 |
| 117 | Prolonged QT interval (HP:0001657) | 1.76209713 |
| 118 | Ulnar deviation of the wrist (HP:0003049) | 1.75785586 |
| 119 | Limb-girdle muscle weakness (HP:0003325) | 1.75653530 |
| 120 | Cerebral hypomyelination (HP:0006808) | 1.75368388 |
| 121 | Hypoplastic left heart (HP:0004383) | 1.74742047 |
| 122 | Metatarsus adductus (HP:0001840) | 1.74673967 |
| 123 | Aortic dissection (HP:0002647) | 1.73747252 |
| 124 | Urinary urgency (HP:0000012) | 1.73495863 |
| 125 | Alacrima (HP:0000522) | 1.72914870 |
| 126 | Abnormality of the left ventricular outflow tract (HP:0011103) | 1.72299516 |
| 127 | Subaortic stenosis (HP:0001682) | 1.72299516 |
| 128 | Neoplasm of the peripheral nervous system (HP:0100007) | 1.71464325 |
| 129 | Autoamputation (HP:0001218) | 1.71227506 |
| 130 | Stridor (HP:0010307) | 1.70806192 |
| 131 | Hypoplastic ischia (HP:0003175) | 1.70045465 |
| 132 | Protrusio acetabuli (HP:0003179) | 1.68988276 |
| 133 | Abnormality of the ischium (HP:0003174) | 1.67115449 |
| 134 | Aplasia involving bones of the extremities (HP:0009825) | 1.65664375 |
| 135 | Aplasia involving bones of the upper limbs (HP:0009823) | 1.65664375 |
| 136 | Aplasia of the phalanges of the hand (HP:0009802) | 1.65664375 |
| 137 | Palpitations (HP:0001962) | 1.65472599 |
| 138 | Supranuclear gaze palsy (HP:0000605) | 1.63519338 |
| 139 | Premature rupture of membranes (HP:0001788) | 1.63389993 |
| 140 | Pterygium (HP:0001059) | 1.62899538 |
| 141 | Distal lower limb amyotrophy (HP:0008944) | 1.62601844 |
| 142 | Waddling gait (HP:0002515) | 1.62596138 |
| 143 | Wrist flexion contracture (HP:0001239) | 1.62507204 |
| 144 | * Delayed gross motor development (HP:0002194) | 1.55883014 |
| 145 | Nonprogressive disorder (HP:0003680) | 1.55638703 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | STK39 | 4.34560214 |
| 2 | OBSCN | 4.27227494 |
| 3 | PHKG1 | 3.03985774 |
| 4 | PHKG2 | 3.03985774 |
| 5 | MARK1 | 2.88158391 |
| 6 | OXSR1 | 2.70577753 |
| 7 | BCR | 2.61402573 |
| 8 | TTN | 2.31308771 |
| 9 | WNK4 | 2.19599807 |
| 10 | PKN1 | 1.94350367 |
| 11 | NEK1 | 1.85897214 |
| 12 | DYRK2 | 1.76500334 |
| 13 | FGFR2 | 1.75976690 |
| 14 | PDK3 | 1.61094797 |
| 15 | PDK4 | 1.61094797 |
| 16 | CCNB1 | 1.58123832 |
| 17 | NEK9 | 1.58010567 |
| 18 | PIK3CA | 1.54823330 |
| 19 | CASK | 1.53796267 |
| 20 | MUSK | 1.52922349 |
| 21 | FRK | 1.52002206 |
| 22 | CSNK1G3 | 1.48702418 |
| 23 | WNK1 | 1.47526027 |
| 24 | PAK3 | 1.43007960 |
| 25 | PAK6 | 1.42421649 |
| 26 | UHMK1 | 1.41166759 |
| 27 | MET | 1.41034007 |
| 28 | NME1 | 1.35960605 |
| 29 | MAP3K12 | 1.33878758 |
| 30 | ROCK2 | 1.32729415 |
| 31 | DMPK | 1.29146145 |
| 32 | LATS2 | 1.26819098 |
| 33 | CSNK1A1L | 1.24677420 |
| 34 | CSNK1G2 | 1.23354053 |
| 35 | EPHB1 | 1.22605212 |
| 36 | NTRK1 | 1.22197965 |
| 37 | PNCK | 1.18537388 |
| 38 | MAPK13 | 1.18532127 |
| 39 | PDK2 | 1.15715293 |
| 40 | PBK | 1.15060906 |
| 41 | CSNK1G1 | 1.11228395 |
| 42 | MINK1 | 1.10685948 |
| 43 | PIK3CG | 1.09717876 |
| 44 | CDK19 | 1.08823466 |
| 45 | MYLK | 1.07415234 |
| 46 | PINK1 | 1.04332410 |
| 47 | MAPKAPK3 | 1.03318407 |
| 48 | MAP3K4 | 1.02111269 |
| 49 | MAPKAPK5 | 1.01139320 |
| 50 | SGK494 | 0.99138830 |
| 51 | SGK223 | 0.99138830 |
| 52 | ERBB3 | 0.98978445 |
| 53 | ERBB4 | 0.98960717 |
| 54 | CDK14 | 0.98315699 |
| 55 | EIF2AK3 | 0.97677119 |
| 56 | LATS1 | 0.93634925 |
| 57 | KSR2 | 0.91868467 |
| 58 | ICK | 0.90001314 |
| 59 | * CAMK2D | 0.88238260 |
| 60 | TYRO3 | 0.87719861 |
| 61 | MAP3K7 | 0.87263911 |
| 62 | ILK | 0.86871202 |
| 63 | ROCK1 | 0.85291731 |
| 64 | NTRK2 | 0.85219221 |
| 65 | * CAMK2A | 0.85094491 |
| 66 | MAP2K4 | 0.83988561 |
| 67 | EPHB2 | 0.83422954 |
| 68 | TRPM7 | 0.83001403 |
| 69 | BMPR1B | 0.80871751 |
| 70 | PLK2 | 0.80574068 |
| 71 | ARAF | 0.80379782 |
| 72 | NEK6 | 0.78531259 |
| 73 | PRPF4B | 0.77101182 |
| 74 | CDK18 | 0.76973763 |
| 75 | KSR1 | 0.76300242 |
| 76 | * CAMK2G | 0.75186145 |
| 77 | CDK15 | 0.75107528 |
| 78 | PRKAA1 | 0.74984467 |
| 79 | LMTK2 | 0.73792859 |
| 80 | MAP2K7 | 0.72236770 |
| 81 | * CAMK2B | 0.71802579 |
| 82 | MAP3K9 | 0.69714175 |
| 83 | CDK5 | 0.69519117 |
| 84 | DDR2 | 0.67129091 |
| 85 | TGFBR2 | 0.66907745 |
| 86 | PRKAA2 | 0.66905181 |
| 87 | PRKCE | 0.66378837 |
| 88 | AKT3 | 0.66135979 |
| 89 | PAK2 | 0.65677898 |
| 90 | BRSK2 | 0.64812290 |
| 91 | PRKD1 | 0.63878847 |
| 92 | CDK11A | 0.62572232 |
| 93 | PTK2 | 0.58149921 |
| 94 | MAP4K2 | 0.57489193 |
| 95 | PLK3 | 0.57394580 |
| 96 | WEE1 | 0.57054276 |
| 97 | AKT2 | 0.56612164 |
| 98 | MAPK12 | 0.55515358 |
| 99 | * LIMK1 | 0.54726172 |
| 100 | STK24 | 0.54388846 |
| 101 | FER | 0.54230948 |
| 102 | TESK1 | 0.54169751 |
| 103 | PRKACB | 0.53833879 |
| 104 | PRKD3 | 0.51097511 |
| 105 | CAMK1 | 0.50811894 |
| 106 | PDGFRA | 0.50622560 |
| 107 | PTK2B | 0.49935612 |
| 108 | GRK7 | 0.49222452 |
| 109 | PRKG1 | 0.48203087 |
| 110 | BUB1 | 0.48182817 |
| 111 | GRK5 | 0.48002334 |
| 112 | WNK3 | 0.47191725 |
| 113 | TNIK | 0.47107935 |
| 114 | MAP2K1 | 0.46681882 |
| 115 | STK16 | 0.46488659 |
| 116 | MOS | 0.46249536 |
| 117 | CAMK4 | 0.45863061 |
| 118 | EIF2AK1 | 0.45848996 |
| 119 | NUAK1 | 0.44666038 |
| 120 | CDK8 | 0.44008040 |
| 121 | IRAK2 | 0.42718397 |
| 122 | PRKACA | 0.41888279 |
| 123 | STK38L | 0.40849703 |
| 124 | NTRK3 | 0.39758282 |
| 125 | MARK2 | 0.38018092 |
| 126 | STK38 | 0.35947716 |
| 127 | EPHA4 | 0.35651088 |
| 128 | BCKDK | 0.35487268 |
| 129 | RET | 0.35419921 |
| 130 | BRSK1 | 0.34379890 |
| 131 | MELK | 0.34069394 |
| 132 | DAPK3 | 0.32431655 |
| 133 | ADRBK1 | 0.32410067 |
| 134 | MAPK7 | 0.31777635 |
| 135 | TIE1 | 0.31356197 |
| 136 | FGFR1 | 0.30725139 |
| 137 | PRKCG | 0.27436641 |
| 138 | TRIM28 | 0.25921104 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 3.79877560 |
| 2 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 3.49561858 |
| 3 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 3.47351611 |
| 4 | Parkinsons disease_Homo sapiens_hsa05012 | 3.16069858 |
| 5 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 3.09134632 |
| 6 | Fatty acid elongation_Homo sapiens_hsa00062 | 3.01014429 |
| 7 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 2.92401808 |
| 8 | Steroid biosynthesis_Homo sapiens_hsa00100 | 2.47084753 |
| 9 | Alzheimers disease_Homo sapiens_hsa05010 | 2.45071390 |
| 10 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 2.29760107 |
| 11 | Circadian rhythm_Homo sapiens_hsa04710 | 2.05320385 |
| 12 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 2.03049592 |
| 13 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.03048679 |
| 14 | Huntingtons disease_Homo sapiens_hsa05016 | 2.00529509 |
| 15 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 1.98913626 |
| 16 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.97576554 |
| 17 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 1.96107172 |
| 18 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 1.79704578 |
| 19 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 1.64260263 |
| 20 | * Axon guidance_Homo sapiens_hsa04360 | 1.50724884 |
| 21 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.48313365 |
| 22 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.47898841 |
| 23 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.46199351 |
| 24 | Sulfur metabolism_Homo sapiens_hsa00920 | 1.43512667 |
| 25 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.42797449 |
| 26 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 1.37136461 |
| 27 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.28539244 |
| 28 | Tight junction_Homo sapiens_hsa04530 | 1.28228313 |
| 29 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 1.27540749 |
| 30 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.26679575 |
| 31 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 1.25513205 |
| 32 | Renal cell carcinoma_Homo sapiens_hsa05211 | 1.10174118 |
| 33 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 1.08148019 |
| 34 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 1.06785760 |
| 35 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 1.04721362 |
| 36 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.01342403 |
| 37 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.00912639 |
| 38 | GABAergic synapse_Homo sapiens_hsa04727 | 0.98516699 |
| 39 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.98146656 |
| 40 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.93032746 |
| 41 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.92910434 |
| 42 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.91969365 |
| 43 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.89331817 |
| 44 | Carbon metabolism_Homo sapiens_hsa01200 | 0.88871611 |
| 45 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.85709693 |
| 46 | Protein export_Homo sapiens_hsa03060 | 0.84871166 |
| 47 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.81189466 |
| 48 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.80712702 |
| 49 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.80685319 |
| 50 | Long-term depression_Homo sapiens_hsa04730 | 0.80439646 |
| 51 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.79999066 |
| 52 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.79258597 |
| 53 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.78425786 |
| 54 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.77954082 |
| 55 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.76518012 |
| 56 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.76046126 |
| 57 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.75448029 |
| 58 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.73945269 |
| 59 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.72669011 |
| 60 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.71524884 |
| 61 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.71440258 |
| 62 | Circadian entrainment_Homo sapiens_hsa04713 | 0.69630317 |
| 63 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.69279667 |
| 64 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.68931945 |
| 65 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.68323252 |
| 66 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.68197159 |
| 67 | Gap junction_Homo sapiens_hsa04540 | 0.65589229 |
| 68 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.62556130 |
| 69 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.62451281 |
| 70 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.61323315 |
| 71 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.60858018 |
| 72 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.60372321 |
| 73 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.59909894 |
| 74 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.59389117 |
| 75 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.59000644 |
| 76 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.58960911 |
| 77 | Adherens junction_Homo sapiens_hsa04520 | 0.58477495 |
| 78 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.58190862 |
| 79 | Focal adhesion_Homo sapiens_hsa04510 | 0.56570078 |
| 80 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.56412414 |
| 81 | Peroxisome_Homo sapiens_hsa04146 | 0.54059506 |
| 82 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.53890571 |
| 83 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.53662073 |
| 84 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.53239911 |
| 85 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 0.52648676 |
| 86 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.52193722 |
| 87 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.51513515 |
| 88 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.51196672 |
| 89 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 0.51100730 |
| 90 | Insulin resistance_Homo sapiens_hsa04931 | 0.51074005 |
| 91 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.50937455 |
| 92 | Salivary secretion_Homo sapiens_hsa04970 | 0.50231291 |
| 93 | Lysine degradation_Homo sapiens_hsa00310 | 0.49764983 |
| 94 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.49035967 |
| 95 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.49016644 |
| 96 | Morphine addiction_Homo sapiens_hsa05032 | 0.48965870 |
| 97 | Nicotine addiction_Homo sapiens_hsa05033 | 0.48539762 |
| 98 | Bile secretion_Homo sapiens_hsa04976 | 0.48177661 |
| 99 | Ras signaling pathway_Homo sapiens_hsa04014 | 0.46108860 |
| 100 | Renin secretion_Homo sapiens_hsa04924 | 0.45353756 |
| 101 | Cocaine addiction_Homo sapiens_hsa05030 | 0.45324719 |
| 102 | Melanogenesis_Homo sapiens_hsa04916 | 0.44923702 |
| 103 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.44396265 |
| 104 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.44179546 |
| 105 | Metabolic pathways_Homo sapiens_hsa01100 | 0.43891571 |
| 106 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.43744915 |
| 107 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.42307983 |
| 108 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.42084469 |
| 109 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.41187523 |
| 110 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.40733290 |
| 111 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.40732324 |
| 112 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 0.40045350 |
| 113 | Phototransduction_Homo sapiens_hsa04744 | 0.40041767 |
| 114 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.39396820 |
| 115 | Endocytosis_Homo sapiens_hsa04144 | 0.38296503 |
| 116 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 0.37975777 |
| 117 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.37026632 |
| 118 | Taste transduction_Homo sapiens_hsa04742 | 0.36003426 |
| 119 | Proteasome_Homo sapiens_hsa03050 | 0.34924425 |
| 120 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.34895583 |
| 121 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.34681755 |
| 122 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.34120702 |
| 123 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.33972010 |
| 124 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.33677050 |
| 125 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.33644356 |
| 126 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.33385271 |
| 127 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.33351333 |
| 128 | * Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.32894656 |
| 129 | Histidine metabolism_Homo sapiens_hsa00340 | 0.32727812 |
| 130 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.32629457 |
| 131 | Insulin secretion_Homo sapiens_hsa04911 | 0.32393626 |
| 132 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.31768740 |
| 133 | Viral myocarditis_Homo sapiens_hsa05416 | 0.31121857 |
| 134 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.30568437 |
| 135 | Purine metabolism_Homo sapiens_hsa00230 | 0.30088012 |

