

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | neuron cell-cell adhesion (GO:0007158) | 3.87078211 |
| 2 | presynaptic membrane assembly (GO:0097105) | 3.75864918 |
| 3 | G-protein coupled receptor internalization (GO:0002031) | 3.48509983 |
| 4 | ionotropic glutamate receptor signaling pathway (GO:0035235) | 3.41362473 |
| 5 | presynaptic membrane organization (GO:0097090) | 3.37147836 |
| 6 | regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act | 3.28981406 |
| 7 | Golgi to endosome transport (GO:0006895) | 3.27191717 |
| 8 | positive regulation of excitatory postsynaptic membrane potential (GO:2000463) | 3.24202473 |
| 9 | negative regulation of cytosolic calcium ion concentration (GO:0051481) | 3.23763094 |
| 10 | glutamate receptor signaling pathway (GO:0007215) | 3.21870401 |
| 11 | postsynaptic membrane organization (GO:0001941) | 3.20652642 |
| 12 | vocalization behavior (GO:0071625) | 3.19450366 |
| 13 | righting reflex (GO:0060013) | 3.15778430 |
| 14 | regulation of protein glycosylation (GO:0060049) | 3.09341587 |
| 15 | regulation of short-term neuronal synaptic plasticity (GO:0048172) | 3.07624273 |
| 16 | startle response (GO:0001964) | 3.07240314 |
| 17 | regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310) | 3.03865725 |
| 18 | synaptic vesicle docking involved in exocytosis (GO:0016081) | 2.98838614 |
| 19 | dendritic spine morphogenesis (GO:0060997) | 2.95762940 |
| 20 | proline transport (GO:0015824) | 2.95426513 |
| 21 | establishment of nucleus localization (GO:0040023) | 2.93885720 |
| 22 | histone H3-K4 trimethylation (GO:0080182) | 2.92813451 |
| 23 | negative regulation of synaptic transmission, GABAergic (GO:0032229) | 2.86006580 |
| 24 | nucleus localization (GO:0051647) | 2.85948523 |
| 25 | cerebral cortex radially oriented cell migration (GO:0021799) | 2.84769841 |
| 26 | interkinetic nuclear migration (GO:0022027) | 2.84291382 |
| 27 | G-protein coupled glutamate receptor signaling pathway (GO:0007216) | 2.82880708 |
| 28 | protein localization to synapse (GO:0035418) | 2.82534093 |
| 29 | positive regulation of phosphoprotein phosphatase activity (GO:0032516) | 2.81609153 |
| 30 | phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092) | 2.81373453 |
| 31 | neuron recognition (GO:0008038) | 2.80287291 |
| 32 | transmission of nerve impulse (GO:0019226) | 2.79687076 |
| 33 | establishment of protein localization to Golgi (GO:0072600) | 2.78924674 |
| 34 | cerebellar Purkinje cell differentiation (GO:0021702) | 2.78877633 |
| 35 | regulation of glutamate receptor signaling pathway (GO:1900449) | 2.76451458 |
| 36 | detection of calcium ion (GO:0005513) | 2.74662442 |
| 37 | positive regulation of calcium ion-dependent exocytosis (GO:0045956) | 2.68080151 |
| 38 | phospholipid translocation (GO:0045332) | 2.67986833 |
| 39 | lipid translocation (GO:0034204) | 2.67986833 |
| 40 | glutamate secretion (GO:0014047) | 2.67216595 |
| 41 | long-chain fatty acid biosynthetic process (GO:0042759) | 2.65847148 |
| 42 | neurotransmitter-gated ion channel clustering (GO:0072578) | 2.62828353 |
| 43 | regulation of pigment cell differentiation (GO:0050932) | 2.62817766 |
| 44 | kidney morphogenesis (GO:0060993) | 2.62139097 |
| 45 | gamma-aminobutyric acid signaling pathway (GO:0007214) | 2.61428548 |
| 46 | L-amino acid import (GO:0043092) | 2.61264942 |
| 47 | regulation of timing of cell differentiation (GO:0048505) | 2.60307040 |
| 48 | vascular smooth muscle contraction (GO:0014829) | 2.58680034 |
| 49 | axonal fasciculation (GO:0007413) | 2.58158669 |
| 50 | artery development (GO:0060840) | 2.58142726 |
| 51 | cell morphogenesis involved in neuron differentiation (GO:0048667) | 2.57993168 |
| 52 | cellular potassium ion homeostasis (GO:0030007) | 2.57666443 |
| 53 | regulation of respiratory gaseous exchange by neurological system process (GO:0002087) | 2.57183822 |
| 54 | limb bud formation (GO:0060174) | 2.56448721 |
| 55 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 2.56020338 |
| 56 | neuron fate determination (GO:0048664) | 2.55790470 |
| 57 | regulation of excitatory postsynaptic membrane potential (GO:0060079) | 2.55788622 |
| 58 | synaptic vesicle maturation (GO:0016188) | 2.55569646 |
| 59 | regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371) | 2.55160136 |
| 60 | innervation (GO:0060384) | 2.54100113 |
| 61 | C4-dicarboxylate transport (GO:0015740) | 2.53952149 |
| 62 | atrial cardiac muscle cell action potential (GO:0086014) | 2.53938770 |
| 63 | positive regulation of synapse assembly (GO:0051965) | 2.53555167 |
| 64 | protein targeting to Golgi (GO:0000042) | 2.52278738 |
| 65 | regulation of platelet aggregation (GO:0090330) | 2.52099820 |
| 66 | neuronal action potential (GO:0019228) | 2.50240500 |
| 67 | positive regulation of NIK/NF-kappaB signaling (GO:1901224) | 2.48132525 |
| 68 | regulation of synapse assembly (GO:0051963) | 2.47914006 |
| 69 | regulation of postsynaptic membrane potential (GO:0060078) | 2.47110682 |
| 70 | central nervous system projection neuron axonogenesis (GO:0021952) | 2.46263401 |
| 71 | synaptic transmission, glutamatergic (GO:0035249) | 2.45140986 |
| 72 | suckling behavior (GO:0001967) | 2.44983431 |
| 73 | developmental pigmentation (GO:0048066) | 2.44294481 |
| 74 | neuron-neuron synaptic transmission (GO:0007270) | 2.43557268 |
| 75 | calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339) | 2.43281649 |
| 76 | limb development (GO:0060173) | 2.42463830 |
| 77 | appendage development (GO:0048736) | 2.42463830 |
| 78 | neuronal action potential propagation (GO:0019227) | 2.42284931 |
| 79 | serotonin metabolic process (GO:0042428) | 2.42006730 |
| 80 | gamma-aminobutyric acid transport (GO:0015812) | 2.41998829 |
| 81 | locomotory exploration behavior (GO:0035641) | 2.40240484 |
| 82 | regulation of NIK/NF-kappaB signaling (GO:1901222) | 2.39725811 |
| 83 | regulation of germinal center formation (GO:0002634) | 2.39170194 |
| 84 | regulation of sarcomere organization (GO:0060297) | 2.38727275 |
| 85 | regulation of calcineurin-NFAT signaling cascade (GO:0070884) | 2.38422533 |
| 86 | positive regulation of cardiac muscle cell differentiation (GO:2000727) | 2.37794014 |
| 87 | nonmotile primary cilium assembly (GO:0035058) | 2.37235963 |
| 88 | negative regulation of hormone biosynthetic process (GO:0032353) | 2.36908100 |
| 89 | axon ensheathment in central nervous system (GO:0032291) | 2.36219329 |
| 90 | central nervous system myelination (GO:0022010) | 2.36219329 |
| 91 | regulation of dendritic spine morphogenesis (GO:0061001) | 2.36126043 |
| 92 | relaxation of cardiac muscle (GO:0055119) | 2.34931724 |
| 93 | neuron remodeling (GO:0016322) | 2.32878803 |
| 94 | negative regulation of neurotransmitter transport (GO:0051589) | 2.32835926 |
| 95 | potassium ion import (GO:0010107) | 2.32693161 |
| 96 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 2.32651411 |
| 97 | regulation of inhibitory postsynaptic membrane potential (GO:0060080) | 2.31947122 |
| 98 | cell communication by electrical coupling involved in cardiac conduction (GO:0086064) | 2.31577648 |
| 99 | cochlea development (GO:0090102) | 2.31444661 |
| 100 | regulation of synaptic vesicle exocytosis (GO:2000300) | 2.31102705 |
| 101 | positive regulation of calcium ion transmembrane transporter activity (GO:1901021) | 2.30068378 |
| 102 | nerve growth factor signaling pathway (GO:0038180) | 2.29941277 |
| 103 | cellular sodium ion homeostasis (GO:0006883) | 2.29936642 |
| 104 | renal tubule morphogenesis (GO:0061333) | 2.29779499 |
| 105 | positive regulation of cellular amide metabolic process (GO:0034250) | 2.29227468 |
| 106 | membrane depolarization during cardiac muscle cell action potential (GO:0086012) | 2.29201654 |
| 107 | reflex (GO:0060004) | 2.29020248 |
| 108 | action potential (GO:0001508) | 2.28920164 |
| 109 | cell communication involved in cardiac conduction (GO:0086065) | 2.28472150 |
| 110 | neurotransmitter uptake (GO:0001504) | 2.28074291 |
| 111 | glycosphingolipid biosynthetic process (GO:0006688) | 2.27946036 |
| 112 | positive regulation of inositol phosphate biosynthetic process (GO:0060732) | 2.27850143 |
| 113 | membrane depolarization (GO:0051899) | 2.27675584 |
| 114 | negative regulation of dendrite development (GO:2000171) | 2.27635502 |
| 115 | embryonic foregut morphogenesis (GO:0048617) | 2.26548588 |
| 116 | long-term memory (GO:0007616) | 2.26353906 |
| 117 | regulation of synaptic transmission, glutamatergic (GO:0051966) | 2.25680641 |
| 118 | negative regulation of neurotransmitter secretion (GO:0046929) | 2.25625970 |
| 119 | regulation of respiratory system process (GO:0044065) | 2.25582055 |
| 120 | membrane depolarization during action potential (GO:0086010) | 2.25370912 |
| 121 | neurotransmitter secretion (GO:0007269) | 2.24342139 |
| 122 | regulation of clathrin-mediated endocytosis (GO:2000369) | 2.24196145 |
| 123 | cilium or flagellum-dependent cell motility (GO:0001539) | 2.24039499 |
| 124 | central nervous system neuron axonogenesis (GO:0021955) | 2.22872469 |
| 125 | regulation of synaptic vesicle transport (GO:1902803) | 2.22050824 |
| 126 | homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156) | 2.21888900 |
| 127 | positive regulation of action potential (GO:0045760) | 2.21757606 |
| 128 | retina layer formation (GO:0010842) | 2.21293431 |
| 129 | regulation of memory T cell differentiation (GO:0043380) | 2.20513721 |
| 130 | dendritic spine organization (GO:0097061) | 2.20449146 |
| 131 | dendrite morphogenesis (GO:0048813) | 2.20170018 |
| 132 | regulation of dendritic spine development (GO:0060998) | 2.19400733 |
| 133 | regulation of respiratory gaseous exchange (GO:0043576) | 2.18808418 |
| 134 | positive regulation of dendritic spine morphogenesis (GO:0061003) | 2.18426626 |
| 135 | spinal cord motor neuron differentiation (GO:0021522) | 2.18384669 |
| 136 | negative regulation of translation, ncRNA-mediated (GO:0040033) | 2.17555391 |
| 137 | regulation of translation, ncRNA-mediated (GO:0045974) | 2.17555391 |
| 138 | negative regulation of translation involved in gene silencing by miRNA (GO:0035278) | 2.17555391 |
| 139 | amino acid import (GO:0043090) | 2.17458487 |
| 140 | synapse assembly (GO:0007416) | 2.17432628 |
| 141 | cell proliferation in forebrain (GO:0021846) | 2.17296542 |
| 142 | regulation of inositol phosphate biosynthetic process (GO:0010919) | 2.16796685 |
| 143 | cranial nerve morphogenesis (GO:0021602) | 2.15759869 |
| 144 | adult walking behavior (GO:0007628) | 2.14739067 |
| 145 | inner ear receptor stereocilium organization (GO:0060122) | 2.14110169 |
| 146 | regulation of synaptic transmission, GABAergic (GO:0032228) | 2.13706214 |
| 147 | left/right axis specification (GO:0070986) | 2.13521656 |
| 148 | germinal center formation (GO:0002467) | 2.12776642 |
| 149 | positive regulation of dendritic spine development (GO:0060999) | 2.12393824 |
| 150 | negative regulation of homotypic cell-cell adhesion (GO:0034111) | 2.11723147 |
| 151 | response to auditory stimulus (GO:0010996) | 2.11091452 |
| 152 | calcium ion import (GO:0070509) | 2.10761509 |
| 153 | auditory behavior (GO:0031223) | 2.09688420 |
| 154 | exploration behavior (GO:0035640) | 2.09425782 |
| 155 | regulation of somitogenesis (GO:0014807) | 2.08681335 |
| 156 | eye photoreceptor cell differentiation (GO:0001754) | 2.08349895 |
| 157 | photoreceptor cell differentiation (GO:0046530) | 2.08349895 |
| 158 | positive regulation of protein dephosphorylation (GO:0035307) | 2.08267022 |
| 159 | mechanosensory behavior (GO:0007638) | 2.08052109 |
| 160 | positive regulation of synaptic transmission, GABAergic (GO:0032230) | 2.07924196 |
| 161 | regulation of development, heterochronic (GO:0040034) | 2.05447782 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 3.84005322 |
| 2 | GBX2_23144817_ChIP-Seq_PC3_Human | 3.80452144 |
| 3 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.45087880 |
| 4 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 2.44128107 |
| 5 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 2.31855366 |
| 6 | SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 2.17425243 |
| 7 | TAF15_26573619_Chip-Seq_HEK293_Human | 2.14771053 |
| 8 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 2.12785245 |
| 9 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.07262251 |
| 10 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.06446283 |
| 11 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 2.02426532 |
| 12 | SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 2.02259927 |
| 13 | AR_21572438_ChIP-Seq_LNCaP_Human | 2.01817536 |
| 14 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.96371447 |
| 15 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.92776558 |
| 16 | SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 1.92738526 |
| 17 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.92173245 |
| 18 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.90378169 |
| 19 | SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 1.89494889 |
| 20 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.87766970 |
| 21 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.87579166 |
| 22 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 1.85708085 |
| 23 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 1.85212878 |
| 24 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.83538854 |
| 25 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.83490147 |
| 26 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.80016050 |
| 27 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.78579063 |
| 28 | EZH2_18974828_ChIP-Seq_MESCs_Mouse | 1.78437069 |
| 29 | RNF2_18974828_ChIP-Seq_MESCs_Mouse | 1.78437069 |
| 30 | P300_19829295_ChIP-Seq_ESCs_Human | 1.75735257 |
| 31 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.75616041 |
| 32 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.73253289 |
| 33 | SUZ12_18692474_ChIP-Seq_MEFs_Mouse | 1.71978794 |
| 34 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.71510272 |
| 35 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 1.71018077 |
| 36 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.70850250 |
| 37 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.69255578 |
| 38 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.68414488 |
| 39 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.68348918 |
| 40 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 1.67310985 |
| 41 | SMAD_19615063_ChIP-ChIP_OVARY_Human | 1.66812947 |
| 42 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.66185726 |
| 43 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.63868084 |
| 44 | * CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.62559965 |
| 45 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.60997609 |
| 46 | MTF2_20144788_ChIP-Seq_MESCs_Mouse | 1.58833202 |
| 47 | E2F1_18555785_Chip-Seq_ESCs_Mouse | 1.58491951 |
| 48 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.57964467 |
| 49 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.56988478 |
| 50 | RNF2_27304074_Chip-Seq_ESCs_Mouse | 1.56761633 |
| 51 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.55745193 |
| 52 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.54745099 |
| 53 | FUS_26573619_Chip-Seq_HEK293_Human | 1.53160110 |
| 54 | P53_22387025_ChIP-Seq_ESCs_Mouse | 1.52501116 |
| 55 | * SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 1.51341774 |
| 56 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.51262940 |
| 57 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 1.50461179 |
| 58 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.49879674 |
| 59 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 1.49307713 |
| 60 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.46724083 |
| 61 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.43342785 |
| 62 | RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 1.41072620 |
| 63 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.41066431 |
| 64 | P300_18555785_Chip-Seq_ESCs_Mouse | 1.39164271 |
| 65 | STAT3_23295773_ChIP-Seq_U87_Human | 1.39098830 |
| 66 | EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 1.38976950 |
| 67 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.38165158 |
| 68 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 1.37792902 |
| 69 | NFE2L2_20460467_ChIP-Seq_MEFs_Mouse | 1.37446923 |
| 70 | NRF2_20460467_ChIP-Seq_MEFs_Mouse | 1.37446923 |
| 71 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.36980813 |
| 72 | TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse | 1.36738616 |
| 73 | NMYC_18555785_Chip-Seq_ESCs_Mouse | 1.35223338 |
| 74 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.34865981 |
| 75 | * OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.33231984 |
| 76 | VDR_22108803_ChIP-Seq_LS180_Human | 1.33082240 |
| 77 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.32076513 |
| 78 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.32076513 |
| 79 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.31830571 |
| 80 | * SOX2_21211035_ChIP-Seq_LN229_Gbm | 1.31184433 |
| 81 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.31077453 |
| 82 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.29798763 |
| 83 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.29436806 |
| 84 | FOXM1_26456572_ChIP-Seq_MCF-7_Human | 1.29071172 |
| 85 | OCT4_18555785_Chip-Seq_ESCs_Mouse | 1.28696424 |
| 86 | RUNX1_27457419_Chip-Seq_LIVER_Mouse | 1.28647747 |
| 87 | VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human | 1.28306944 |
| 88 | SOX2_18555785_Chip-Seq_ESCs_Mouse | 1.28266705 |
| 89 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.27821756 |
| 90 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.27821756 |
| 91 | TCF4_23295773_ChIP-Seq_U87_Human | 1.27582372 |
| 92 | EP300_21415370_ChIP-Seq_HL-1_Mouse | 1.26600481 |
| 93 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.25374830 |
| 94 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.25218230 |
| 95 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.24496277 |
| 96 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.24338903 |
| 97 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.23876226 |
| 98 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.23845545 |
| 99 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.23804526 |
| 100 | PU1_27457419_Chip-Seq_LIVER_Mouse | 1.23120123 |
| 101 | TP53_16413492_ChIP-PET_HCT116_Human | 1.21324992 |
| 102 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.21117122 |
| 103 | NR3C1_23031785_ChIP-Seq_PC12_Mouse | 1.21000043 |
| 104 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.20196813 |
| 105 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.19526793 |
| 106 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.18708929 |
| 107 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.18491150 |
| 108 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.18027236 |
| 109 | CTCF_18555785_Chip-Seq_ESCs_Mouse | 1.17973665 |
| 110 | LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.17809675 |
| 111 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.17673270 |
| 112 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.17391328 |
| 113 | ESRRB_18555785_Chip-Seq_ESCs_Mouse | 1.17170078 |
| 114 | KLF4_18555785_Chip-Seq_ESCs_Mouse | 1.16861978 |
| 115 | EWS_26573619_Chip-Seq_HEK293_Human | 1.16646636 |
| 116 | SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.16532131 |
| 117 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 1.16152608 |
| 118 | AR_25329375_ChIP-Seq_VCAP_Human | 1.15956394 |
| 119 | ZFX_18555785_Chip-Seq_ESCs_Mouse | 1.15083127 |
| 120 | FOXP3_17237761_ChIP-ChIP_TREG_Mouse | 1.13200865 |
| 121 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.12364327 |
| 122 | SMAD1_18555785_Chip-Seq_ESCs_Mouse | 1.12260316 |
| 123 | * KDM2B_26808549_Chip-Seq_REH_Human | 1.12228927 |
| 124 | YAP1_20516196_ChIP-Seq_MESCs_Mouse | 1.12122077 |
| 125 | SMAD3_21741376_ChIP-Seq_HESCs_Human | 1.11634815 |
| 126 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.11604215 |
| 127 | PHC1_16625203_ChIP-ChIP_MESCs_Mouse | 1.11210951 |
| 128 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.10823110 |
| 129 | ESR1_22446102_ChIP-Seq_UTERUS_Mouse | 1.10124448 |
| 130 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 1.08951137 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003880_abnormal_central_pattern | 3.84010034 |
| 2 | MP0001188_hyperpigmentation | 3.73137148 |
| 3 | MP0000569_abnormal_digit_pigmentation | 3.01243976 |
| 4 | MP0004859_abnormal_synaptic_plasticity | 2.92902353 |
| 5 | MP0003136_yellow_coat_color | 2.78800437 |
| 6 | MP0005409_darkened_coat_color | 2.78771787 |
| 7 | MP0009046_muscle_twitch | 2.76036806 |
| 8 | MP0001486_abnormal_startle_reflex | 2.60760848 |
| 9 | MP0005423_abnormal_somatic_nervous | 2.58833847 |
| 10 | MP0003890_abnormal_embryonic-extraembry | 2.41266756 |
| 11 | MP0004381_abnormal_hair_follicle | 2.37521729 |
| 12 | MP0004742_abnormal_vestibular_system | 2.30711388 |
| 13 | MP0000566_synostosis | 2.27269537 |
| 14 | MP0003635_abnormal_synaptic_transmissio | 2.26764418 |
| 15 | MP0001968_abnormal_touch/_nociception | 2.24005824 |
| 16 | MP0009745_abnormal_behavioral_response | 2.21371992 |
| 17 | MP0002735_abnormal_chemical_nociception | 2.19464486 |
| 18 | MP0004270_analgesia | 2.14831046 |
| 19 | MP0002102_abnormal_ear_morphology | 2.14396627 |
| 20 | MP0008877_abnormal_DNA_methylation | 1.98826169 |
| 21 | MP0005645_abnormal_hypothalamus_physiol | 1.96567740 |
| 22 | MP0000778_abnormal_nervous_system | 1.96490807 |
| 23 | MP0005174_abnormal_tail_pigmentation | 1.89356165 |
| 24 | MP0002572_abnormal_emotion/affect_behav | 1.89046738 |
| 25 | MP0000579_abnormal_nail_morphology | 1.85551808 |
| 26 | MP0005171_absent_coat_pigmentation | 1.83361435 |
| 27 | MP0008057_abnormal_DNA_replication | 1.79768044 |
| 28 | MP0002734_abnormal_mechanical_nocicepti | 1.78187769 |
| 29 | MP0002063_abnormal_learning/memory/cond | 1.76828111 |
| 30 | MP0000015_abnormal_ear_pigmentation | 1.75717855 |
| 31 | MP0002064_seizures | 1.75621645 |
| 32 | MP0002067_abnormal_sensory_capabilities | 1.75478757 |
| 33 | MP0003122_maternal_imprinting | 1.72036717 |
| 34 | MP0001440_abnormal_grooming_behavior | 1.68455723 |
| 35 | MP0002272_abnormal_nervous_system | 1.64093057 |
| 36 | MP0002184_abnormal_innervation | 1.61237736 |
| 37 | MP0002736_abnormal_nociception_after | 1.61094872 |
| 38 | MP0004215_abnormal_myocardial_fiber | 1.52026630 |
| 39 | MP0002837_dystrophic_cardiac_calcinosis | 1.51894725 |
| 40 | MP0003787_abnormal_imprinting | 1.51079743 |
| 41 | MP0006292_abnormal_olfactory_placode | 1.50344086 |
| 42 | MP0006276_abnormal_autonomic_nervous | 1.46731682 |
| 43 | MP0004043_abnormal_pH_regulation | 1.45141630 |
| 44 | MP0002557_abnormal_social/conspecific_i | 1.43091023 |
| 45 | MP0001986_abnormal_taste_sensitivity | 1.38466021 |
| 46 | MP0003941_abnormal_skin_development | 1.38372692 |
| 47 | MP0003283_abnormal_digestive_organ | 1.37100660 |
| 48 | MP0005623_abnormal_meninges_morphology | 1.35192383 |
| 49 | MP0002733_abnormal_thermal_nociception | 1.34444537 |
| 50 | MP0001984_abnormal_olfaction | 1.33797994 |
| 51 | MP0001501_abnormal_sleep_pattern | 1.33177705 |
| 52 | MP0005379_endocrine/exocrine_gland_phen | 1.31998332 |
| 53 | MP0005551_abnormal_eye_electrophysiolog | 1.31441945 |
| 54 | MP0001970_abnormal_pain_threshold | 1.29424897 |
| 55 | MP0002277_abnormal_respiratory_mucosa | 1.29261676 |
| 56 | MP0002928_abnormal_bile_duct | 1.25412127 |
| 57 | MP0004142_abnormal_muscle_tone | 1.24741570 |
| 58 | MP0006072_abnormal_retinal_apoptosis | 1.24031898 |
| 59 | MP0003121_genomic_imprinting | 1.23435613 |
| 60 | MP0004133_heterotaxia | 1.22946223 |
| 61 | MP0003633_abnormal_nervous_system | 1.21641124 |
| 62 | MP0004145_abnormal_muscle_electrophysio | 1.21452197 |
| 63 | MP0002822_catalepsy | 1.20486363 |
| 64 | MP0002909_abnormal_adrenal_gland | 1.18102938 |
| 65 | MP0001879_abnormal_lymphatic_vessel | 1.17585416 |
| 66 | MP0000026_abnormal_inner_ear | 1.17124025 |
| 67 | * MP0000383_abnormal_hair_follicle | 1.15322414 |
| 68 | MP0001177_atelectasis | 1.14760677 |
| 69 | MP0005248_abnormal_Harderian_gland | 1.13715074 |
| 70 | MP0000955_abnormal_spinal_cord | 1.11460884 |
| 71 | MP0002882_abnormal_neuron_morphology | 1.10484990 |
| 72 | MP0000631_abnormal_neuroendocrine_gland | 1.10128099 |
| 73 | MP0001963_abnormal_hearing_physiology | 1.09408213 |
| 74 | MP0004484_altered_response_of | 1.07317423 |
| 75 | MP0008569_lethality_at_weaning | 1.05928740 |
| 76 | MP0004085_abnormal_heartbeat | 1.05403977 |
| 77 | MP0005187_abnormal_penis_morphology | 1.04098182 |
| 78 | MP0003183_abnormal_peptide_metabolism | 1.01725246 |
| 79 | MP0003938_abnormal_ear_development | 1.01523068 |
| 80 | MP0002095_abnormal_skin_pigmentation | 1.01522628 |
| 81 | MP0003045_fibrosis | 1.01486466 |
| 82 | MP0006054_spinal_hemorrhage | 1.01098824 |
| 83 | MP0000462_abnormal_digestive_system | 1.00292646 |
| 84 | MP0005386_behavior/neurological_phenoty | 0.99475895 |
| 85 | MP0004924_abnormal_behavior | 0.99475895 |
| 86 | MP0005646_abnormal_pituitary_gland | 0.98705365 |
| 87 | MP0001502_abnormal_circadian_rhythm | 0.98497004 |
| 88 | MP0002752_abnormal_somatic_nervous | 0.98494694 |
| 89 | MP0003195_calcinosis | 0.93867902 |
| 90 | MP0005253_abnormal_eye_physiology | 0.90058099 |
| 91 | MP0001299_abnormal_eye_distance/ | 0.89884600 |
| 92 | MP0000013_abnormal_adipose_tissue | 0.88826360 |
| 93 | * MP0010678_abnormal_skin_adnexa | 0.88779643 |
| 94 | MP0010352_gastrointestinal_tract_polyps | 0.88372434 |
| 95 | MP0005257_abnormal_intraocular_pressure | 0.86722534 |
| 96 | MP0002638_abnormal_pupillary_reflex | 0.86683809 |
| 97 | MP0000920_abnormal_myelination | 0.85484747 |
| 98 | MP0010234_abnormal_vibrissa_follicle | 0.84356212 |
| 99 | MP0003868_abnormal_feces_composition | 0.81537081 |
| 100 | MP0010386_abnormal_urinary_bladder | 0.80997815 |
| 101 | MP0002066_abnormal_motor_capabilities/c | 0.79733171 |
| 102 | MP0002009_preneoplasia | 0.79276102 |
| 103 | MP0004084_abnormal_cardiac_muscle | 0.78199494 |
| 104 | MP0002177_abnormal_outer_ear | 0.77893040 |
| 105 | MP0004885_abnormal_endolymph | 0.77258697 |
| 106 | MP0002876_abnormal_thyroid_physiology | 0.77086975 |
| 107 | MP0001346_abnormal_lacrimal_gland | 0.76769287 |
| 108 | MP0002152_abnormal_brain_morphology | 0.75780081 |
| 109 | MP0005220_abnormal_exocrine_pancreas | 0.75514935 |
| 110 | MP0001905_abnormal_dopamine_level | 0.74793164 |
| 111 | MP0002751_abnormal_autonomic_nervous | 0.74257403 |
| 112 | MP0009780_abnormal_chondrocyte_physiolo | 0.73877753 |
| 113 | MP0001944_abnormal_pancreas_morphology | 0.73754268 |
| 114 | MP0010368_abnormal_lymphatic_system | 0.72655406 |
| 115 | MP0004811_abnormal_neuron_physiology | 0.71937561 |
| 116 | MP0002098_abnormal_vibrissa_morphology | 0.71897687 |
| 117 | MP0008260_abnormal_autophagy | 0.71191007 |
| 118 | MP0003879_abnormal_hair_cell | 0.70472671 |
| 119 | MP0005499_abnormal_olfactory_system | 0.69950167 |
| 120 | MP0005394_taste/olfaction_phenotype | 0.69950167 |
| 121 | MP0001485_abnormal_pinna_reflex | 0.69659332 |
| 122 | MP0002229_neurodegeneration | 0.68875168 |
| 123 | * MP0000427_abnormal_hair_cycle | 0.68579373 |
| 124 | MP0003632_abnormal_nervous_system | 0.68020334 |
| 125 | * MP0000647_abnormal_sebaceous_gland | 0.66624585 |
| 126 | MP0002249_abnormal_larynx_morphology | 0.65415539 |
| 127 | MP0005410_abnormal_fertilization | 0.64778976 |
| 128 | MP0000372_irregular_coat_pigmentation | 0.64080577 |
| 129 | MP0001661_extended_life_span | 0.61206027 |
| 130 | MP0003690_abnormal_glial_cell | 0.61193232 |
| 131 | MP0003631_nervous_system_phenotype | 0.60980560 |
| 132 | MP0003634_abnormal_glial_cell | 0.60265000 |
| 133 | MP0000538_abnormal_urinary_bladder | 0.59141624 |
| 134 | MP0005195_abnormal_posterior_eye | 0.58796760 |
| 135 | MP0002163_abnormal_gland_morphology | 0.56874337 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 4.65227405 |
| 2 | Febrile seizures (HP:0002373) | 4.55881362 |
| 3 | Chromsome breakage (HP:0040012) | 4.13154023 |
| 4 | Upper limb muscle weakness (HP:0003484) | 4.01298508 |
| 5 | Focal motor seizures (HP:0011153) | 3.87985036 |
| 6 | Prostate neoplasm (HP:0100787) | 3.53861292 |
| 7 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 3.25016554 |
| 8 | Absent/shortened dynein arms (HP:0200106) | 3.25016554 |
| 9 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.24408819 |
| 10 | Medial flaring of the eyebrow (HP:0010747) | 3.22559318 |
| 11 | Gait imbalance (HP:0002141) | 3.09649221 |
| 12 | Intestinal atresia (HP:0011100) | 3.05120994 |
| 13 | Papillary thyroid carcinoma (HP:0002895) | 3.00078036 |
| 14 | Congenital stationary night blindness (HP:0007642) | 2.94808718 |
| 15 | Abnormal ciliary motility (HP:0012262) | 2.84216532 |
| 16 | Congenital primary aphakia (HP:0007707) | 2.83373936 |
| 17 | Duplicated collecting system (HP:0000081) | 2.79575901 |
| 18 | Chronic hepatic failure (HP:0100626) | 2.78700078 |
| 19 | Focal seizures (HP:0007359) | 2.76908271 |
| 20 | Abnormality of midbrain morphology (HP:0002418) | 2.75075801 |
| 21 | Molar tooth sign on MRI (HP:0002419) | 2.75075801 |
| 22 | Calf muscle hypertrophy (HP:0008981) | 2.74725747 |
| 23 | True hermaphroditism (HP:0010459) | 2.74234446 |
| 24 | Genital tract atresia (HP:0001827) | 2.72707638 |
| 25 | Degeneration of the lateral corticospinal tracts (HP:0002314) | 2.71372260 |
| 26 | Atrophy/Degeneration involving the corticospinal tracts (HP:0007372) | 2.71372260 |
| 27 | Aplasia cutis congenita (HP:0001057) | 2.67589381 |
| 28 | Pancreatic cysts (HP:0001737) | 2.66165775 |
| 29 | Vaginal atresia (HP:0000148) | 2.66029400 |
| 30 | Absent speech (HP:0001344) | 2.60249131 |
| 31 | Broad-based gait (HP:0002136) | 2.59474493 |
| 32 | Abnormality of the renal collecting system (HP:0004742) | 2.58588917 |
| 33 | Progressive cerebellar ataxia (HP:0002073) | 2.57898643 |
| 34 | Epileptic encephalopathy (HP:0200134) | 2.54380100 |
| 35 | Pancreatic fibrosis (HP:0100732) | 2.53370576 |
| 36 | Abnormality of the nasal septum (HP:0000419) | 2.50723962 |
| 37 | Abnormality of the corticospinal tract (HP:0002492) | 2.50653251 |
| 38 | Lower limb amyotrophy (HP:0007210) | 2.50018627 |
| 39 | Distal lower limb amyotrophy (HP:0008944) | 2.48797481 |
| 40 | Nephrogenic diabetes insipidus (HP:0009806) | 2.48570612 |
| 41 | Abnormal respiratory motile cilium physiology (HP:0012261) | 2.42553704 |
| 42 | Impaired vibration sensation in the lower limbs (HP:0002166) | 2.36452713 |
| 43 | Poor coordination (HP:0002370) | 2.30779099 |
| 44 | Limb dystonia (HP:0002451) | 2.30493394 |
| 45 | Pheochromocytoma (HP:0002666) | 2.30394486 |
| 46 | Muscle hypertrophy of the lower extremities (HP:0008968) | 2.29199572 |
| 47 | Widely spaced teeth (HP:0000687) | 2.27681295 |
| 48 | Epileptiform EEG discharges (HP:0011182) | 2.27215035 |
| 49 | Volvulus (HP:0002580) | 2.22526097 |
| 50 | Protruding tongue (HP:0010808) | 2.21878632 |
| 51 | Gaze-evoked nystagmus (HP:0000640) | 2.21652299 |
| 52 | Thyroid carcinoma (HP:0002890) | 2.21536442 |
| 53 | Submucous cleft hard palate (HP:0000176) | 2.20694013 |
| 54 | Drooling (HP:0002307) | 2.19780828 |
| 55 | Excessive salivation (HP:0003781) | 2.19780828 |
| 56 | Atonic seizures (HP:0010819) | 2.18938566 |
| 57 | EEG with generalized epileptiform discharges (HP:0011198) | 2.14594111 |
| 58 | Parakeratosis (HP:0001036) | 2.14451405 |
| 59 | Abnormality of the renal cortex (HP:0011035) | 2.12859496 |
| 60 | Abnormality of the ischium (HP:0003174) | 2.12377516 |
| 61 | Ulnar claw (HP:0001178) | 2.11472482 |
| 62 | Abnormality of the parathyroid morphology (HP:0011766) | 2.09634864 |
| 63 | Congenital sensorineural hearing impairment (HP:0008527) | 2.07103197 |
| 64 | Lip pit (HP:0100267) | 2.04479937 |
| 65 | Abnormal respiratory motile cilium morphology (HP:0005938) | 2.03860288 |
| 66 | Abnormal respiratory epithelium morphology (HP:0012253) | 2.03860288 |
| 67 | Type II lissencephaly (HP:0007260) | 2.02349081 |
| 68 | Hypsarrhythmia (HP:0002521) | 2.01212625 |
| 69 | Abnormality of DNA repair (HP:0003254) | 1.99164772 |
| 70 | Midline defect of the nose (HP:0004122) | 1.96810626 |
| 71 | Abnormality of salivation (HP:0100755) | 1.96556176 |
| 72 | Cupped ear (HP:0000378) | 1.96537978 |
| 73 | Generalized tonic-clonic seizures (HP:0002069) | 1.95215066 |
| 74 | Short foot (HP:0001773) | 1.95213648 |
| 75 | Exotropia (HP:0000577) | 1.94814204 |
| 76 | Neuroendocrine neoplasm (HP:0100634) | 1.94468283 |
| 77 | Onion bulb formation (HP:0003383) | 1.92499456 |
| 78 | Dysdiadochokinesis (HP:0002075) | 1.91421790 |
| 79 | Decreased circulating renin level (HP:0003351) | 1.91368279 |
| 80 | Large for gestational age (HP:0001520) | 1.91094619 |
| 81 | Hypoplastic labia majora (HP:0000059) | 1.89054288 |
| 82 | White forelock (HP:0002211) | 1.88833128 |
| 83 | Nephroblastoma (Wilms tumor) (HP:0002667) | 1.88369522 |
| 84 | Specific learning disability (HP:0001328) | 1.86752741 |
| 85 | Cystic liver disease (HP:0006706) | 1.86325143 |
| 86 | Decreased motor nerve conduction velocity (HP:0003431) | 1.84833200 |
| 87 | Decreased number of peripheral myelinated nerve fibers (HP:0003380) | 1.84512566 |
| 88 | Hepatoblastoma (HP:0002884) | 1.83328389 |
| 89 | Decreased central vision (HP:0007663) | 1.82508981 |
| 90 | Ectopic kidney (HP:0000086) | 1.82382305 |
| 91 | Tubulointerstitial nephritis (HP:0001970) | 1.82149438 |
| 92 | Chin dimple (HP:0010751) | 1.81659558 |
| 93 | Hyperventilation (HP:0002883) | 1.81609403 |
| 94 | Absent eyebrow (HP:0002223) | 1.81322700 |
| 95 | Duplication of thumb phalanx (HP:0009942) | 1.81140348 |
| 96 | Gastrointestinal atresia (HP:0002589) | 1.80546681 |
| 97 | Abnormality of incisor morphology (HP:0011063) | 1.79659637 |
| 98 | Hyperglycemia (HP:0003074) | 1.79095516 |
| 99 | Impaired vibratory sensation (HP:0002495) | 1.79058377 |
| 100 | Polyphagia (HP:0002591) | 1.77670747 |
| 101 | Furrowed tongue (HP:0000221) | 1.77481874 |
| 102 | Optic neuritis (HP:0100653) | 1.76618299 |
| 103 | Retrobulbar optic neuritis (HP:0100654) | 1.76618299 |
| 104 | Postaxial hand polydactyly (HP:0001162) | 1.76406862 |
| 105 | Aqueductal stenosis (HP:0002410) | 1.75683311 |
| 106 | Morphological abnormality of the pyramidal tract (HP:0002062) | 1.75069753 |
| 107 | Lower limb muscle weakness (HP:0007340) | 1.74611783 |
| 108 | Embryonal renal neoplasm (HP:0011794) | 1.73623050 |
| 109 | Inability to walk (HP:0002540) | 1.72803439 |
| 110 | Aplasia/Hypoplasia of the tibia (HP:0005772) | 1.72523185 |
| 111 | Blue irides (HP:0000635) | 1.72019640 |
| 112 | Narrow forehead (HP:0000341) | 1.71742544 |
| 113 | Papilledema (HP:0001085) | 1.71659394 |
| 114 | Septo-optic dysplasia (HP:0100842) | 1.70217304 |
| 115 | Abnormality of the lower motor neuron (HP:0002366) | 1.70064997 |
| 116 | Decreased lacrimation (HP:0000633) | 1.69862443 |
| 117 | Abnormality of the labia majora (HP:0012881) | 1.69780915 |
| 118 | Steppage gait (HP:0003376) | 1.69310581 |
| 119 | Hemiparesis (HP:0001269) | 1.68413522 |
| 120 | Atelectasis (HP:0100750) | 1.68240159 |
| 121 | Thickened helices (HP:0000391) | 1.68126563 |
| 122 | Deeply set eye (HP:0000490) | 1.67808154 |
| 123 | Nephronophthisis (HP:0000090) | 1.67689806 |
| 124 | Hyperinsulinemic hypoglycemia (HP:0000825) | 1.67069066 |
| 125 | Tubular atrophy (HP:0000092) | 1.67068568 |
| 126 | Clubbing of toes (HP:0100760) | 1.66994244 |
| 127 | Hypoplastic ischia (HP:0003175) | 1.66856611 |
| 128 | Abnormal biliary tract morphology (HP:0012440) | 1.66629496 |
| 129 | Stomatitis (HP:0010280) | 1.66286277 |
| 130 | Abnormal eating behavior (HP:0100738) | 1.66039170 |
| 131 | Cutaneous finger syndactyly (HP:0010554) | 1.64371493 |
| 132 | Abnormal pancreas size (HP:0012094) | 1.64334712 |
| 133 | Overfolded helix (HP:0000396) | 1.63815662 |
| 134 | Absent frontal sinuses (HP:0002688) | 1.62697010 |
| 135 | Mixed hearing impairment (HP:0000410) | 1.62655549 |
| 136 | Stomach cancer (HP:0012126) | 1.62481739 |
| 137 | Patchy hypopigmentation of hair (HP:0011365) | 1.61947706 |
| 138 | Thyroiditis (HP:0100646) | 1.61667371 |
| 139 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.61181589 |
| 140 | Renal cortical cysts (HP:0000803) | 1.61109663 |
| 141 | Generalized hypopigmentation of hair (HP:0011358) | 1.60986392 |
| 142 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 1.60919312 |
| 143 | Abnormality of the axillary hair (HP:0100134) | 1.60798890 |
| 144 | Abnormality of secondary sexual hair (HP:0009888) | 1.60798890 |
| 145 | Hypothermia (HP:0002045) | 1.60687415 |
| 146 | Progressive inability to walk (HP:0002505) | 1.60648202 |
| 147 | Hemiplegia (HP:0002301) | 1.59934191 |
| 148 | Pulmonic stenosis (HP:0001642) | 1.59713044 |
| 149 | Morphological abnormality of the middle ear (HP:0008609) | 1.59572045 |
| 150 | Gastroesophageal reflux (HP:0002020) | 1.59510287 |
| 151 | Abnormality of binocular vision (HP:0011514) | 1.59097735 |
| 152 | Diplopia (HP:0000651) | 1.59097735 |
| 153 | Hypocalcemia (HP:0002901) | 1.58864383 |
| 154 | Paraplegia (HP:0010550) | 1.58580022 |
| 155 | Urinary bladder sphincter dysfunction (HP:0002839) | 1.58227753 |
| 156 | Absence seizures (HP:0002121) | 1.58130874 |
| 157 | Abnormality of the renal medulla (HP:0100957) | 1.58084376 |
| 158 | Curly hair (HP:0002212) | 1.57960081 |
| 159 | Abnormal hair whorl (HP:0010721) | 1.57333453 |
| 160 | Fair hair (HP:0002286) | 1.57325601 |
| 161 | Distal lower limb muscle weakness (HP:0009053) | 1.56074462 |
| 162 | Aplasia involving bones of the extremities (HP:0009825) | 1.55090679 |
| 163 | Aplasia involving bones of the upper limbs (HP:0009823) | 1.55090679 |
| 164 | Aplasia of the phalanges of the hand (HP:0009802) | 1.55090679 |
| 165 | Action tremor (HP:0002345) | 1.54032112 |
| 166 | Dialeptic seizures (HP:0011146) | 1.53748489 |
| 167 | Abnormality of the preputium (HP:0100587) | 1.53688238 |
| 168 | Slow saccadic eye movements (HP:0000514) | 1.53662231 |
| 169 | Optic nerve hypoplasia (HP:0000609) | 1.53166287 |
| 170 | Inappropriate behavior (HP:0000719) | 1.52384911 |
| 171 | Genetic anticipation (HP:0003743) | 1.52126698 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | CASK | 4.20876870 |
| 2 | TNIK | 3.15767524 |
| 3 | ACVR1B | 2.98653503 |
| 4 | NTRK3 | 2.92913092 |
| 5 | RIPK4 | 2.28936148 |
| 6 | WNK3 | 2.27168182 |
| 7 | GRK1 | 2.16448799 |
| 8 | SIK2 | 2.10811379 |
| 9 | MARK1 | 2.06693839 |
| 10 | CAMK1G | 1.93758918 |
| 11 | TAF1 | 1.90393896 |
| 12 | MAP2K7 | 1.85132952 |
| 13 | EPHA4 | 1.84111451 |
| 14 | EIF2AK2 | 1.69796320 |
| 15 | PKN1 | 1.67721806 |
| 16 | NTRK2 | 1.66107941 |
| 17 | MAP3K4 | 1.56304880 |
| 18 | INSRR | 1.54682092 |
| 19 | BLK | 1.52854355 |
| 20 | NLK | 1.52072707 |
| 21 | MAPK13 | 1.50404339 |
| 22 | PNCK | 1.49965344 |
| 23 | MAP4K2 | 1.46023929 |
| 24 | MAP3K13 | 1.44863407 |
| 25 | ERBB3 | 1.44707073 |
| 26 | PAK3 | 1.43666528 |
| 27 | NEK6 | 1.42314522 |
| 28 | FES | 1.39072190 |
| 29 | MAP3K14 | 1.37795410 |
| 30 | CAMKK2 | 1.37223766 |
| 31 | PINK1 | 1.36528549 |
| 32 | ZAK | 1.35846601 |
| 33 | CAMK1D | 1.35441160 |
| 34 | TXK | 1.30674309 |
| 35 | BRD4 | 1.29783019 |
| 36 | FGR | 1.24730319 |
| 37 | YES1 | 1.23866533 |
| 38 | NUAK1 | 1.16836401 |
| 39 | SGK2 | 1.14036286 |
| 40 | STK38L | 1.09065090 |
| 41 | TIE1 | 1.08854096 |
| 42 | WNK1 | 1.08073287 |
| 43 | STK39 | 1.07871860 |
| 44 | OBSCN | 1.04988703 |
| 45 | BMPR1B | 1.02067139 |
| 46 | FRK | 1.01789490 |
| 47 | PRKCE | 1.00713287 |
| 48 | TNK2 | 1.00474938 |
| 49 | BMPR2 | 1.00438250 |
| 50 | FGFR2 | 0.98154890 |
| 51 | MAP3K9 | 0.97254682 |
| 52 | STK24 | 0.94910485 |
| 53 | SGK1 | 0.94639236 |
| 54 | ADRBK2 | 0.93589517 |
| 55 | LATS1 | 0.93327969 |
| 56 | MARK2 | 0.91930569 |
| 57 | KSR1 | 0.91357186 |
| 58 | MKNK2 | 0.90286398 |
| 59 | CDK3 | 0.90232390 |
| 60 | SGK223 | 0.88995945 |
| 61 | SGK494 | 0.88995945 |
| 62 | IRAK4 | 0.87027344 |
| 63 | MUSK | 0.85231143 |
| 64 | PIK3CA | 0.84894570 |
| 65 | STK3 | 0.83962038 |
| 66 | GRK7 | 0.83353002 |
| 67 | PLK2 | 0.81346388 |
| 68 | PRPF4B | 0.80051403 |
| 69 | DMPK | 0.80020684 |
| 70 | SIK3 | 0.79636622 |
| 71 | MAP3K12 | 0.75916101 |
| 72 | IRAK1 | 0.75216339 |
| 73 | IRAK2 | 0.73951907 |
| 74 | CAMK2A | 0.73513170 |
| 75 | IRAK3 | 0.73222485 |
| 76 | TGFBR1 | 0.71813263 |
| 77 | MAP3K2 | 0.71019466 |
| 78 | JAK1 | 0.70199352 |
| 79 | PRKCQ | 0.69902947 |
| 80 | MKNK1 | 0.69405943 |
| 81 | CDK5 | 0.67965329 |
| 82 | TAOK3 | 0.67186010 |
| 83 | CSNK1G1 | 0.65072189 |
| 84 | MAP3K7 | 0.64609571 |
| 85 | CDK19 | 0.64606664 |
| 86 | CAMK1 | 0.63877312 |
| 87 | HCK | 0.63676346 |
| 88 | TRIM28 | 0.63321619 |
| 89 | PRKG1 | 0.63246050 |
| 90 | CSNK1A1L | 0.62393440 |
| 91 | PTK2B | 0.62037810 |
| 92 | CAMK2B | 0.61794488 |
| 93 | PHKG2 | 0.61351930 |
| 94 | PHKG1 | 0.61351930 |
| 95 | DAPK2 | 0.60864635 |
| 96 | OXSR1 | 0.60396266 |
| 97 | PIK3CG | 0.59507601 |
| 98 | PRKAA2 | 0.58144065 |
| 99 | TRPM7 | 0.56712946 |
| 100 | STK11 | 0.56261334 |
| 101 | SGK3 | 0.56157954 |
| 102 | EPHA3 | 0.54758398 |
| 103 | DYRK1A | 0.54304537 |
| 104 | PDGFRB | 0.54198136 |
| 105 | CDC42BPA | 0.53866366 |
| 106 | PRKCH | 0.53784805 |
| 107 | RPS6KB1 | 0.53734015 |
| 108 | FYN | 0.53319998 |
| 109 | MINK1 | 0.52416824 |
| 110 | NTRK1 | 0.52368257 |
| 111 | MAP3K6 | 0.50799246 |
| 112 | MAPK10 | 0.50220011 |
| 113 | FER | 0.48168776 |
| 114 | BRSK2 | 0.47103794 |
| 115 | PRKCG | 0.46937434 |
| 116 | BCR | 0.46420654 |
| 117 | CAMK4 | 0.46122229 |
| 118 | CCNB1 | 0.44725094 |
| 119 | AKT3 | 0.44699257 |
| 120 | MAPK7 | 0.43860846 |
| 121 | CAMK2D | 0.43714649 |
| 122 | PRKCB | 0.43371694 |
| 123 | EPHB2 | 0.43279050 |
| 124 | PAK6 | 0.43107903 |
| 125 | RET | 0.42452960 |
| 126 | CSNK1D | 0.42387888 |
| 127 | CAMKK1 | 0.42012085 |
| 128 | TEC | 0.41306776 |
| 129 | UHMK1 | 0.41195413 |
| 130 | CLK1 | 0.41050673 |
| 131 | FGFR1 | 0.39104234 |
| 132 | CSNK1G2 | 0.38733695 |
| 133 | MAP2K4 | 0.38303398 |
| 134 | FGFR3 | 0.37919093 |
| 135 | PRKAA1 | 0.37539313 |
| 136 | CDK12 | 0.37509215 |
| 137 | HIPK2 | 0.37507201 |
| 138 | ROCK1 | 0.36583972 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Nicotine addiction_Homo sapiens_hsa05033 | 3.12731371 |
| 2 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 2.39755058 |
| 3 | Phototransduction_Homo sapiens_hsa04744 | 2.01418946 |
| 4 | Morphine addiction_Homo sapiens_hsa05032 | 2.01260761 |
| 5 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.95419426 |
| 6 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.93889873 |
| 7 | Taste transduction_Homo sapiens_hsa04742 | 1.86137195 |
| 8 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.72563160 |
| 9 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.71059191 |
| 10 | Axon guidance_Homo sapiens_hsa04360 | 1.58000978 |
| 11 | Circadian entrainment_Homo sapiens_hsa04713 | 1.55081995 |
| 12 | Circadian rhythm_Homo sapiens_hsa04710 | 1.49983482 |
| 13 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.49748541 |
| 14 | GABAergic synapse_Homo sapiens_hsa04727 | 1.49588073 |
| 15 | Salivary secretion_Homo sapiens_hsa04970 | 1.47049306 |
| 16 | Olfactory transduction_Homo sapiens_hsa04740 | 1.43242154 |
| 17 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.41567506 |
| 18 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.39583577 |
| 19 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.39237782 |
| 20 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 1.37930179 |
| 21 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 1.37168934 |
| 22 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.36478661 |
| 23 | Cholinergic synapse_Homo sapiens_hsa04725 | 1.34849229 |
| 24 | Long-term potentiation_Homo sapiens_hsa04720 | 1.31856258 |
| 25 | Renin secretion_Homo sapiens_hsa04924 | 1.30975498 |
| 26 | Long-term depression_Homo sapiens_hsa04730 | 1.28602867 |
| 27 | Dopaminergic synapse_Homo sapiens_hsa04728 | 1.24063439 |
| 28 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.21602645 |
| 29 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.21342410 |
| 30 | Gastric acid secretion_Homo sapiens_hsa04971 | 1.20859954 |
| 31 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.20690080 |
| 32 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 1.20321916 |
| 33 | Cocaine addiction_Homo sapiens_hsa05030 | 1.19703683 |
| 34 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.19604760 |
| 35 | Insulin secretion_Homo sapiens_hsa04911 | 1.16822133 |
| 36 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 1.16539986 |
| 37 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.14868463 |
| 38 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.12245962 |
| 39 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.10744247 |
| 40 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 1.10699650 |
| 41 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 1.08988324 |
| 42 | cAMP signaling pathway_Homo sapiens_hsa04024 | 1.07627383 |
| 43 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 1.07103176 |
| 44 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 1.06213685 |
| 45 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 1.04983517 |
| 46 | ErbB signaling pathway_Homo sapiens_hsa04012 | 1.02898441 |
| 47 | Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750 | 0.99631526 |
| 48 | Protein export_Homo sapiens_hsa03060 | 0.96719889 |
| 49 | ABC transporters_Homo sapiens_hsa02010 | 0.95619087 |
| 50 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.95383042 |
| 51 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.95181449 |
| 52 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.91334960 |
| 53 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.90287487 |
| 54 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.89143630 |
| 55 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.88857800 |
| 56 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 0.88776751 |
| 57 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.88433583 |
| 58 | Chemokine signaling pathway_Homo sapiens_hsa04062 | 0.88237453 |
| 59 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.88149428 |
| 60 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.88059823 |
| 61 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.87275276 |
| 62 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.86874523 |
| 63 | Asthma_Homo sapiens_hsa05310 | 0.83363392 |
| 64 | Ras signaling pathway_Homo sapiens_hsa04014 | 0.83001335 |
| 65 | Melanogenesis_Homo sapiens_hsa04916 | 0.82860317 |
| 66 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.82285275 |
| 67 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.81955207 |
| 68 | Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650 | 0.81741293 |
| 69 | African trypanosomiasis_Homo sapiens_hsa05143 | 0.81349886 |
| 70 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.80944517 |
| 71 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.80368558 |
| 72 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.79695812 |
| 73 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.78160987 |
| 74 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 0.77942870 |
| 75 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.76965404 |
| 76 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.76581589 |
| 77 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.76473246 |
| 78 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.75685178 |
| 79 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.75444290 |
| 80 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.73621996 |
| 81 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.73520268 |
| 82 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.73122154 |
| 83 | T cell receptor signaling pathway_Homo sapiens_hsa04660 | 0.73089686 |
| 84 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 0.72833895 |
| 85 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.72795567 |
| 86 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 0.72414091 |
| 87 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.72396142 |
| 88 | Tight junction_Homo sapiens_hsa04530 | 0.71587675 |
| 89 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.71571806 |
| 90 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.71558871 |
| 91 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.70835172 |
| 92 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.70716877 |
| 93 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.68957613 |
| 94 | Allograft rejection_Homo sapiens_hsa05330 | 0.67382988 |
| 95 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.67150182 |
| 96 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.66970462 |
| 97 | Osteoclast differentiation_Homo sapiens_hsa04380 | 0.66825939 |
| 98 | Histidine metabolism_Homo sapiens_hsa00340 | 0.66397196 |
| 99 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.66166463 |
| 100 | Bile secretion_Homo sapiens_hsa04976 | 0.64898474 |
| 101 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.64818602 |
| 102 | Glioma_Homo sapiens_hsa05214 | 0.63374729 |
| 103 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.63340100 |
| 104 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.62918922 |
| 105 | Mineral absorption_Homo sapiens_hsa04978 | 0.62643519 |
| 106 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.62061016 |
| 107 | Melanoma_Homo sapiens_hsa05218 | 0.61905703 |
| 108 | Gap junction_Homo sapiens_hsa04540 | 0.61785841 |
| 109 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.60688092 |
| 110 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 0.60003129 |
| 111 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.59160648 |
| 112 | Alcoholism_Homo sapiens_hsa05034 | 0.58190334 |
| 113 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.57613403 |
| 114 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.57522783 |
| 115 | Measles_Homo sapiens_hsa05162 | 0.57030931 |
| 116 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.55970258 |
| 117 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.55857099 |
| 118 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.55730828 |
| 119 | Toll-like receptor signaling pathway_Homo sapiens_hsa04620 | 0.55298015 |
| 120 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.54812554 |
| 121 | Lysine degradation_Homo sapiens_hsa00310 | 0.54594406 |
| 122 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.54075050 |
| 123 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.53857080 |
| 124 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.53775070 |
| 125 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.53739152 |
| 126 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.53091456 |
| 127 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.52870519 |
| 128 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.52715552 |
| 129 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.50361840 |
| 130 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.50312911 |
| 131 | TNF signaling pathway_Homo sapiens_hsa04668 | 0.50304111 |
| 132 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.49807454 |
| 133 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.49541363 |
| 134 | FoxO signaling pathway_Homo sapiens_hsa04068 | 0.49184077 |
| 135 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.46964738 |
| 136 | Platelet activation_Homo sapiens_hsa04611 | 0.46765779 |
| 137 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.46572629 |
| 138 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.46053897 |
| 139 | Colorectal cancer_Homo sapiens_hsa05210 | 0.42413698 |

