

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | locomotory exploration behavior (GO:0035641) | 4.66409034 |
| 2 | layer formation in cerebral cortex (GO:0021819) | 4.37509210 |
| 3 | synaptic vesicle maturation (GO:0016188) | 4.34198180 |
| 4 | regulation of short-term neuronal synaptic plasticity (GO:0048172) | 3.97723712 |
| 5 | positive regulation of calcium ion-dependent exocytosis (GO:0045956) | 3.85177359 |
| 6 | dendritic spine morphogenesis (GO:0060997) | 3.72110128 |
| 7 | positive regulation of excitatory postsynaptic membrane potential (GO:2000463) | 3.72041562 |
| 8 | dendrite morphogenesis (GO:0048813) | 3.67494243 |
| 9 | vocalization behavior (GO:0071625) | 3.59396390 |
| 10 | pyrimidine nucleobase catabolic process (GO:0006208) | 3.57815386 |
| 11 | neuron cell-cell adhesion (GO:0007158) | 3.56206775 |
| 12 | cell migration in hindbrain (GO:0021535) | 3.55462235 |
| 13 | exploration behavior (GO:0035640) | 3.51995952 |
| 14 | glutamate secretion (GO:0014047) | 3.51416414 |
| 15 | regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act | 3.43093067 |
| 16 | planar cell polarity pathway involved in neural tube closure (GO:0090179) | 3.34748267 |
| 17 | axonal fasciculation (GO:0007413) | 3.32626401 |
| 18 | regulation of synaptic vesicle exocytosis (GO:2000300) | 3.28220802 |
| 19 | synaptic vesicle docking involved in exocytosis (GO:0016081) | 3.24626283 |
| 20 | protein localization to synapse (GO:0035418) | 3.21649462 |
| 21 | neuron recognition (GO:0008038) | 3.20923050 |
| 22 | regulation of glutamate receptor signaling pathway (GO:1900449) | 3.19000891 |
| 23 | regulation of establishment of planar polarity involved in neural tube closure (GO:0090178) | 3.15512465 |
| 24 | adherens junction assembly (GO:0034333) | 3.14983316 |
| 25 | embryonic retina morphogenesis in camera-type eye (GO:0060059) | 3.12064099 |
| 26 | establishment of nucleus localization (GO:0040023) | 3.11922971 |
| 27 | cell communication by electrical coupling (GO:0010644) | 3.08303476 |
| 28 | cell communication by electrical coupling involved in cardiac conduction (GO:0086064) | 3.07153387 |
| 29 | cell-substrate adherens junction assembly (GO:0007045) | 3.00924690 |
| 30 | focal adhesion assembly (GO:0048041) | 3.00924690 |
| 31 | synaptic vesicle exocytosis (GO:0016079) | 2.99945614 |
| 32 | regulation of synapse structural plasticity (GO:0051823) | 2.99939496 |
| 33 | gamma-aminobutyric acid transport (GO:0015812) | 2.97426524 |
| 34 | neurotransmitter-gated ion channel clustering (GO:0072578) | 2.94722718 |
| 35 | central nervous system projection neuron axonogenesis (GO:0021952) | 2.94392822 |
| 36 | neurotransmitter secretion (GO:0007269) | 2.94313948 |
| 37 | desmosome organization (GO:0002934) | 2.93388637 |
| 38 | semaphorin-plexin signaling pathway (GO:0071526) | 2.89530149 |
| 39 | nucleobase catabolic process (GO:0046113) | 2.87640505 |
| 40 | neuromuscular process controlling balance (GO:0050885) | 2.85591412 |
| 41 | proline transport (GO:0015824) | 2.81555269 |
| 42 | activation of protein kinase A activity (GO:0034199) | 2.80669737 |
| 43 | postsynaptic membrane organization (GO:0001941) | 2.79950807 |
| 44 | cell-substrate junction assembly (GO:0007044) | 2.79526863 |
| 45 | regulation of neuronal synaptic plasticity (GO:0048168) | 2.76181180 |
| 46 | innervation (GO:0060384) | 2.76142723 |
| 47 | cytoskeletal anchoring at plasma membrane (GO:0007016) | 2.75844031 |
| 48 | cerebellar Purkinje cell layer development (GO:0021680) | 2.75514603 |
| 49 | regulation of synaptic vesicle transport (GO:1902803) | 2.74181412 |
| 50 | regulation of long-term neuronal synaptic plasticity (GO:0048169) | 2.71415183 |
| 51 | cerebellar Purkinje cell differentiation (GO:0021702) | 2.70528272 |
| 52 | axon extension (GO:0048675) | 2.70410131 |
| 53 | embryonic camera-type eye morphogenesis (GO:0048596) | 2.70273820 |
| 54 | protein retention in ER lumen (GO:0006621) | 2.68242402 |
| 55 | apical protein localization (GO:0045176) | 2.66933048 |
| 56 | sodium ion export (GO:0071436) | 2.66360187 |
| 57 | negative regulation of fatty acid transport (GO:2000192) | 2.64458854 |
| 58 | epithelial cell-cell adhesion (GO:0090136) | 2.64272693 |
| 59 | cell communication involved in cardiac conduction (GO:0086065) | 2.63889384 |
| 60 | positive regulation of synapse maturation (GO:0090129) | 2.63315255 |
| 61 | paraxial mesoderm development (GO:0048339) | 2.61453142 |
| 62 | regulation of axon extension involved in axon guidance (GO:0048841) | 2.60170766 |
| 63 | myelination in peripheral nervous system (GO:0022011) | 2.59755583 |
| 64 | peripheral nervous system axon ensheathment (GO:0032292) | 2.59755583 |
| 65 | maintenance of protein localization in endoplasmic reticulum (GO:0035437) | 2.59721491 |
| 66 | negative regulation of catenin import into nucleus (GO:0035414) | 2.59561868 |
| 67 | regulation of glucose import in response to insulin stimulus (GO:2001273) | 2.58674801 |
| 68 | COPI coating of Golgi vesicle (GO:0048205) | 2.58576514 |
| 69 | Golgi transport vesicle coating (GO:0048200) | 2.58576514 |
| 70 | negative regulation of sodium ion transport (GO:0010766) | 2.55024485 |
| 71 | retrograde vesicle-mediated transport, Golgi to ER (GO:0006890) | 2.53404185 |
| 72 | vesicle transport along microtubule (GO:0047496) | 2.52455427 |
| 73 | regulation of inhibitory postsynaptic membrane potential (GO:0060080) | 2.51998442 |
| 74 | ionotropic glutamate receptor signaling pathway (GO:0035235) | 2.50879631 |
| 75 | skin morphogenesis (GO:0043589) | 2.50042638 |
| 76 | regulation of dendritic spine morphogenesis (GO:0061001) | 2.49875227 |
| 77 | positive regulation of synaptic transmission, glutamatergic (GO:0051968) | 2.49271265 |
| 78 | organelle transport along microtubule (GO:0072384) | 2.48480338 |
| 79 | regulation of respiratory gaseous exchange by neurological system process (GO:0002087) | 2.47446010 |
| 80 | embryonic eye morphogenesis (GO:0048048) | 2.46282337 |
| 81 | regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310) | 2.45647493 |
| 82 | hemidesmosome assembly (GO:0031581) | 2.45396219 |
| 83 | eye morphogenesis (GO:0048592) | 2.43237618 |
| 84 | auditory behavior (GO:0031223) | 2.42137395 |
| 85 | dendritic spine organization (GO:0097061) | 2.42000495 |
| 86 | insulin-like growth factor receptor signaling pathway (GO:0048009) | 2.41923607 |
| 87 | regulation of axon guidance (GO:1902667) | 2.41271556 |
| 88 | alanine transport (GO:0032328) | 2.40954340 |
| 89 | plasma membrane repair (GO:0001778) | 2.40889096 |
| 90 | regulation of clathrin-mediated endocytosis (GO:2000369) | 2.40624115 |
| 91 | positive regulation of axon extension (GO:0045773) | 2.39898908 |
| 92 | protein targeting to plasma membrane (GO:0072661) | 2.39455530 |
| 93 | Wnt signaling pathway, planar cell polarity pathway (GO:0060071) | 2.38962198 |
| 94 | protein localization to endosome (GO:0036010) | 2.38554291 |
| 95 | synapse organization (GO:0050808) | 2.38520192 |
| 96 | cell-cell junction maintenance (GO:0045217) | 2.38074245 |
| 97 | central nervous system neuron axonogenesis (GO:0021955) | 2.36620189 |
| 98 | camera-type eye morphogenesis (GO:0048593) | 2.35659537 |
| 99 | presynaptic membrane assembly (GO:0097105) | 2.33883673 |
| 100 | mitochondrion transport along microtubule (GO:0047497) | 2.33110622 |
| 101 | establishment of mitochondrion localization, microtubule-mediated (GO:0034643) | 2.33110622 |
| 102 | cellular potassium ion homeostasis (GO:0030007) | 2.33057150 |
| 103 | neuron projection extension (GO:1990138) | 2.31631946 |
| 104 | regulation of establishment of planar polarity (GO:0090175) | 2.31418061 |
| 105 | membrane depolarization during cardiac muscle cell action potential (GO:0086012) | 2.30062884 |
| 106 | cerebellar granule cell differentiation (GO:0021707) | 2.29053072 |
| 107 | neuron projection morphogenesis (GO:0048812) | 2.29023926 |
| 108 | asymmetric protein localization (GO:0008105) | 2.28769453 |
| 109 | myoblast fusion (GO:0007520) | 2.28455978 |
| 110 | synapse assembly (GO:0007416) | 2.28399470 |
| 111 | regulation of NFAT protein import into nucleus (GO:0051532) | 2.27949607 |
| 112 | receptor recycling (GO:0001881) | 2.27652960 |
| 113 | regulation of ARF protein signal transduction (GO:0032012) | 2.27200817 |
| 114 | dichotomous subdivision of an epithelial terminal unit (GO:0060600) | 2.27183255 |
| 115 | glucocorticoid receptor signaling pathway (GO:0042921) | 2.26941637 |
| 116 | basement membrane organization (GO:0071711) | 2.26450384 |
| 117 | endothelial cell chemotaxis (GO:0035767) | 2.24771528 |
| 118 | regulation of early endosome to late endosome transport (GO:2000641) | 2.24652605 |
| 119 | amino acid import (GO:0043090) | 2.23869954 |
| 120 | mating behavior (GO:0007617) | 2.22768501 |
| 121 | neuromuscular process (GO:0050905) | 2.22546135 |
| 122 | G-protein coupled acetylcholine receptor signaling pathway (GO:0007213) | 2.22034609 |
| 123 | NLS-bearing protein import into nucleus (GO:0006607) | 2.22027603 |
| 124 | dicarboxylic acid biosynthetic process (GO:0043650) | 2.20645735 |
| 125 | anterior/posterior axis specification, embryo (GO:0008595) | 2.19835298 |
| 126 | activation of Rac GTPase activity (GO:0032863) | 2.19240519 |
| 127 | positive regulation of dendritic spine development (GO:0060999) | 2.18225085 |
| 128 | synaptic transmission, glutamatergic (GO:0035249) | 2.18036949 |
| 129 | cochlea morphogenesis (GO:0090103) | 2.17911130 |
| 130 | glutamate receptor signaling pathway (GO:0007215) | 2.17802677 |
| 131 | negative regulation of dendrite morphogenesis (GO:0050774) | 2.17453604 |
| 132 | neurotransmitter transport (GO:0006836) | 2.16944440 |
| 133 | convergent extension (GO:0060026) | 2.16698463 |
| 134 | regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547) | 2.16620431 |
| 135 | negative regulation of cell size (GO:0045792) | 2.16618232 |
| 136 | developmental cell growth (GO:0048588) | 2.16181962 |
| 137 | neuronal ion channel clustering (GO:0045161) | 2.15236432 |
| 138 | glial cell proliferation (GO:0014009) | 2.14570510 |
| 139 | positive regulation of membrane potential (GO:0045838) | 2.14096993 |
| 140 | regulation of excitatory postsynaptic membrane potential (GO:0060079) | 2.13940659 |
| 141 | regulation of vascular endothelial growth factor signaling pathway (GO:1900746) | 2.13262952 |
| 142 | regulation of nucleobase-containing compound transport (GO:0032239) | 2.13123664 |
| 143 | hippo signaling (GO:0035329) | 2.13098209 |
| 144 | nucleus localization (GO:0051647) | 2.13009773 |
| 145 | cellular sodium ion homeostasis (GO:0006883) | 2.12998088 |
| 146 | neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976) | 2.12723431 |
| 147 | notochord development (GO:0030903) | 2.12456838 |
| 148 | adherens junction organization (GO:0034332) | 2.12313629 |
| 149 | establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197) | 2.11896250 |
| 150 | prepulse inhibition (GO:0060134) | 2.11768686 |
| 151 | regulation of neuron migration (GO:2001222) | 2.11703812 |
| 152 | regulation of dendritic spine development (GO:0060998) | 2.11641922 |
| 153 | positive regulation of fatty acid beta-oxidation (GO:0032000) | 2.11601837 |
| 154 | homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156) | 2.11520863 |
| 155 | regulation of fatty acid beta-oxidation (GO:0031998) | 2.10621495 |
| 156 | peptidyl-lysine dimethylation (GO:0018027) | 2.09248634 |
| 157 | positive regulation of glucose import (GO:0046326) | 2.07418249 |
| 158 | neural tube development (GO:0021915) | 2.07337977 |
| 159 | syncytium formation by plasma membrane fusion (GO:0000768) | 2.06411059 |
| 160 | cellular response to prostaglandin stimulus (GO:0071379) | 2.03566868 |
| 161 | nuclear pore complex assembly (GO:0051292) | 2.02869662 |
| 162 | positive regulation of glucose transport (GO:0010828) | 2.02831009 |
| 163 | cell adhesion mediated by integrin (GO:0033627) | 2.02409742 |
| 164 | morphogenesis of an epithelial sheet (GO:0002011) | 2.01347689 |
| 165 | cell migration involved in sprouting angiogenesis (GO:0002042) | 2.01344589 |
| 166 | establishment or maintenance of bipolar cell polarity (GO:0061245) | 2.00326191 |
| 167 | establishment or maintenance of apical/basal cell polarity (GO:0035088) | 2.00326191 |
| 168 | dopamine receptor signaling pathway (GO:0007212) | 2.00016327 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 4.42702657 |
| 2 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 2.93785908 |
| 3 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.48197698 |
| 4 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 2.46887110 |
| 5 | SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 2.35182023 |
| 6 | EZH2_18974828_ChIP-Seq_MESCs_Mouse | 2.29393504 |
| 7 | RNF2_18974828_ChIP-Seq_MESCs_Mouse | 2.29393504 |
| 8 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.27615338 |
| 9 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 2.26115183 |
| 10 | SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 2.24438461 |
| 11 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.18737533 |
| 12 | DROSHA_22980978_ChIP-Seq_HELA_Human | 2.09880529 |
| 13 | EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 2.06591150 |
| 14 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 2.05609786 |
| 15 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 2.05126790 |
| 16 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 2.05002094 |
| 17 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 2.04500916 |
| 18 | MTF2_20144788_ChIP-Seq_MESCs_Mouse | 1.94601115 |
| 19 | SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 1.93678593 |
| 20 | SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 1.87421166 |
| 21 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 1.87324540 |
| 22 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.87118152 |
| 23 | SUZ12_18692474_ChIP-Seq_MEFs_Mouse | 1.87012830 |
| 24 | SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 1.86594952 |
| 25 | RNF2_27304074_Chip-Seq_ESCs_Mouse | 1.85809685 |
| 26 | RARB_27405468_Chip-Seq_BRAIN_Mouse | 1.83343000 |
| 27 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.78223259 |
| 28 | CLOCK_20551151_ChIP-Seq_293T_Human | 1.74041122 |
| 29 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.73357642 |
| 30 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.71245093 |
| 31 | WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 1.68422687 |
| 32 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.67079811 |
| 33 | RACK7_27058665_Chip-Seq_MCF-7_Human | 1.66859261 |
| 34 | ZFP281_18757296_ChIP-ChIP_E14_Mouse | 1.63656115 |
| 35 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.61940967 |
| 36 | P300_27058665_Chip-Seq_ZR-75-30cells_Human | 1.58132409 |
| 37 | SMAD3_22036565_ChIP-Seq_ESCs_Mouse | 1.57510819 |
| 38 | SOX9_24532713_ChIP-Seq_HFSC_Mouse | 1.56878666 |
| 39 | TCF3_18467660_ChIP-ChIP_MESCs_Mouse | 1.56328144 |
| 40 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.55884185 |
| 41 | RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 1.53507267 |
| 42 | ZNF263_19887448_ChIP-Seq_K562_Human | 1.49801880 |
| 43 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 1.47756611 |
| 44 | CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons | 1.45741420 |
| 45 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.45069910 |
| 46 | KDM2B_26808549_Chip-Seq_K562_Human | 1.44636529 |
| 47 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 1.42886531 |
| 48 | ERG_21242973_ChIP-ChIP_JURKAT_Human | 1.42243327 |
| 49 | REST_18959480_ChIP-ChIP_MESCs_Mouse | 1.42013770 |
| 50 | RUNX1_27514584_Chip-Seq_MCF-7_Human | 1.40341980 |
| 51 | KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.40118099 |
| 52 | EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse | 1.39952176 |
| 53 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.39464504 |
| 54 | TCF7_22412390_ChIP-Seq_EML_Mouse | 1.38631810 |
| 55 | ZFP281_27345836_Chip-Seq_ESCs_Mouse | 1.38076936 |
| 56 | WT1_25993318_ChIP-Seq_PODOCYTE_Human | 1.38072702 |
| 57 | KDM2B_26808549_Chip-Seq_SIL-ALL_Human | 1.37390260 |
| 58 | DMRT1_23473982_ChIP-Seq_TESTES_Mouse | 1.35633118 |
| 59 | RING1B_27294783_Chip-Seq_NPCs_Mouse | 1.35329840 |
| 60 | RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 1.34807109 |
| 61 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.34685715 |
| 62 | TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 1.34512809 |
| 63 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.33326289 |
| 64 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 1.33192973 |
| 65 | KDM2B_26808549_Chip-Seq_DND41_Human | 1.32847547 |
| 66 | RING1B_27294783_Chip-Seq_ESCs_Mouse | 1.32316400 |
| 67 | ELK3_25401928_ChIP-Seq_HUVEC_Human | 1.30604858 |
| 68 | ESR1_22446102_ChIP-Seq_UTERUS_Mouse | 1.30123520 |
| 69 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.29213246 |
| 70 | AR_19668381_ChIP-Seq_PC3_Human | 1.27793596 |
| 71 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.27783844 |
| 72 | SOX2_21211035_ChIP-Seq_LN229_Gbm | 1.26822287 |
| 73 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.26569536 |
| 74 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.25818616 |
| 75 | ISL1_27105846_Chip-Seq_CPCs_Mouse | 1.24457194 |
| 76 | EP300_21415370_ChIP-Seq_HL-1_Mouse | 1.24365151 |
| 77 | ZFP281_18358816_ChIP-ChIP_MESCs_Mouse | 1.23183958 |
| 78 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.22513730 |
| 79 | NR1I2_20693526_ChIP-Seq_LIVER_Mouse | 1.22077983 |
| 80 | UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 1.21697963 |
| 81 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.21319895 |
| 82 | KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.19947551 |
| 83 | NR3C1_23031785_ChIP-Seq_PC12_Mouse | 1.18689764 |
| 84 | TBX20_22080862_ChIP-Seq_HEART_Mouse | 1.18639213 |
| 85 | TBX20_22328084_ChIP-Seq_HEART_Mouse | 1.18639213 |
| 86 | PHC1_16625203_ChIP-ChIP_MESCs_Mouse | 1.18314120 |
| 87 | TET1_21490601_ChIP-Seq_MESCs_Mouse | 1.16826334 |
| 88 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.15946066 |
| 89 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.14985946 |
| 90 | CREB1_26743006_Chip-Seq_LNCaP-abl_Human | 1.14900168 |
| 91 | CREB1_26743006_Chip-Seq_LNCaP_Human | 1.14842490 |
| 92 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.14286511 |
| 93 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.13814756 |
| 94 | TP53_23651856_ChIP-Seq_MEFs_Mouse | 1.13704385 |
| 95 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.13612440 |
| 96 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.13202897 |
| 97 | ESR1_15608294_ChIP-ChIP_MCF-7_Human | 1.13166118 |
| 98 | SALL4_18804426_ChIP-ChIP_MESCs_Mouse | 1.12549741 |
| 99 | EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human | 1.11488371 |
| 100 | YAP1_20516196_ChIP-Seq_MESCs_Mouse | 1.10722688 |
| 101 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 1.10462879 |
| 102 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.09238428 |
| 103 | TP53_16413492_ChIP-PET_HCT116_Human | 1.08961374 |
| 104 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.08847965 |
| 105 | ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 1.07478147 |
| 106 | STAT3_23295773_ChIP-Seq_U87_Human | 1.07437461 |
| 107 | CTNNB1_20460455_ChIP-Seq_HCT116_Human | 1.07428222 |
| 108 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.06629491 |
| 109 | DNAJC2_21179169_ChIP-ChIP_NT2_Human | 1.05131074 |
| 110 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 1.04675372 |
| 111 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.02494918 |
| 112 | HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse | 1.02233360 |
| 113 | RCOR2_21632747_ChIP-Seq_MESCs_Mouse | 1.01926807 |
| 114 | SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 1.01298130 |
| 115 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.01177050 |
| 116 | TP53_22127205_ChIP-Seq_IMR90_Human | 1.01111988 |
| 117 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 1.01057028 |
| 118 | FOXA2_19822575_ChIP-Seq_HepG2_Human | 1.00807532 |
| 119 | TP53_20018659_ChIP-ChIP_R1E_Mouse | 1.00016548 |
| 120 | SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 0.99727499 |
| 121 | SOX2_27498859_Chip-Seq_STOMACH_Mouse | 0.99723860 |
| 122 | CTCF_27219007_Chip-Seq_Bcells_Human | 0.99350399 |
| 123 | RCOR3_21632747_ChIP-Seq_MESCs_Mouse | 0.98683084 |
| 124 | UBF1/2_26484160_Chip-Seq_HMECs_Human | 0.98538489 |
| 125 | SMAD3_21741376_ChIP-Seq_HESCs_Human | 0.97777373 |
| 126 | KDM2B_26808549_Chip-Seq_HPB-ALL_Human | 0.96505065 |
| 127 | OLIG2_26023283_ChIP-Seq_AINV15_Mouse | 0.96240441 |
| 128 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 0.95692932 |
| 129 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 0.95609438 |
| 130 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 0.94271944 |
| 131 | BCAT_22108803_ChIP-Seq_LS180_Human | 0.93848712 |
| 132 | TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse | 0.93128606 |
| 133 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 0.92506286 |
| 134 | OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 0.92377361 |
| 135 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 0.92260724 |
| 136 | FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human | 0.91964296 |
| 137 | KDM2B_26808549_Chip-Seq_SUP-B15_Human | 0.91886611 |
| 138 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.90988190 |
| 139 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 0.90212584 |
| 140 | KDM2B_26808549_Chip-Seq_JURKAT_Human | 0.89740029 |
| 141 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 0.88598573 |
| 142 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 0.88594481 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0004859_abnormal_synaptic_plasticity | 4.40319951 |
| 2 | MP0008438_abnormal_cutaneous_collagen | 2.94496827 |
| 3 | MP0004270_analgesia | 2.82705583 |
| 4 | MP0005409_darkened_coat_color | 2.71049500 |
| 5 | MP0003635_abnormal_synaptic_transmissio | 2.65578069 |
| 6 | MP0009780_abnormal_chondrocyte_physiolo | 2.50372159 |
| 7 | MP0003880_abnormal_central_pattern | 2.46745358 |
| 8 | MP0000778_abnormal_nervous_system | 2.31075693 |
| 9 | MP0004858_abnormal_nervous_system | 2.21461884 |
| 10 | MP0003566_abnormal_cell_adhesion | 2.14626823 |
| 11 | MP0002063_abnormal_learning/memory/cond | 2.08941209 |
| 12 | MP0005257_abnormal_intraocular_pressure | 2.03457114 |
| 13 | MP0005623_abnormal_meninges_morphology | 1.95710683 |
| 14 | MP0003705_abnormal_hypodermis_morpholog | 1.91246786 |
| 15 | MP0000566_synostosis | 1.84708605 |
| 16 | MP0005275_abnormal_skin_tensile | 1.74873107 |
| 17 | MP0009745_abnormal_behavioral_response | 1.73233162 |
| 18 | MP0005423_abnormal_somatic_nervous | 1.72299275 |
| 19 | MP0002064_seizures | 1.68457103 |
| 20 | MP0003091_abnormal_cell_migration | 1.67045007 |
| 21 | MP0000569_abnormal_digit_pigmentation | 1.64850744 |
| 22 | MP0009046_muscle_twitch | 1.64606671 |
| 23 | MP0003122_maternal_imprinting | 1.63921685 |
| 24 | MP0003283_abnormal_digestive_organ | 1.63589791 |
| 25 | MP0010352_gastrointestinal_tract_polyps | 1.63179961 |
| 26 | MP0000537_abnormal_urethra_morphology | 1.63167080 |
| 27 | MP0002734_abnormal_mechanical_nocicepti | 1.61157155 |
| 28 | MP0002184_abnormal_innervation | 1.59354998 |
| 29 | MP0005248_abnormal_Harderian_gland | 1.58524371 |
| 30 | MP0005187_abnormal_penis_morphology | 1.58490941 |
| 31 | MP0002877_abnormal_melanocyte_morpholog | 1.58347715 |
| 32 | MP0001958_emphysema | 1.56745757 |
| 33 | MP0004885_abnormal_endolymph | 1.55461280 |
| 34 | MP0000955_abnormal_spinal_cord | 1.53492037 |
| 35 | MP0000579_abnormal_nail_morphology | 1.52388496 |
| 36 | MP0001299_abnormal_eye_distance/ | 1.51863696 |
| 37 | MP0002572_abnormal_emotion/affect_behav | 1.51686223 |
| 38 | MP0001849_ear_inflammation | 1.49805146 |
| 39 | MP0001486_abnormal_startle_reflex | 1.49625576 |
| 40 | MP0009053_abnormal_anal_canal | 1.49366750 |
| 41 | MP0004811_abnormal_neuron_physiology | 1.48327809 |
| 42 | MP0001348_abnormal_lacrimal_gland | 1.45642799 |
| 43 | MP0000733_abnormal_muscle_development | 1.45079775 |
| 44 | MP0001968_abnormal_touch/_nociception | 1.43562896 |
| 45 | MP0002909_abnormal_adrenal_gland | 1.42297533 |
| 46 | MP0000534_abnormal_ureter_morphology | 1.36864505 |
| 47 | MP0000751_myopathy | 1.36337083 |
| 48 | MP0009384_cardiac_valve_regurgitation | 1.32552128 |
| 49 | MP0004233_abnormal_muscle_weight | 1.31629518 |
| 50 | MP0004185_abnormal_adipocyte_glucose | 1.30986747 |
| 51 | MP0002557_abnormal_social/conspecific_i | 1.30938766 |
| 52 | MP0003329_amyloid_beta_deposits | 1.30797033 |
| 53 | MP0003385_abnormal_body_wall | 1.29162332 |
| 54 | MP0002139_abnormal_hepatobiliary_system | 1.25283312 |
| 55 | MP0003119_abnormal_digestive_system | 1.25254124 |
| 56 | MP0000462_abnormal_digestive_system | 1.24828765 |
| 57 | MP0010368_abnormal_lymphatic_system | 1.23927038 |
| 58 | MP0002882_abnormal_neuron_morphology | 1.23255028 |
| 59 | MP0002272_abnormal_nervous_system | 1.23112751 |
| 60 | MP0002733_abnormal_thermal_nociception | 1.22783641 |
| 61 | MP0002152_abnormal_brain_morphology | 1.21720200 |
| 62 | MP0000762_abnormal_tongue_morphology | 1.21587535 |
| 63 | MP0004264_abnormal_extraembryonic_tissu | 1.19938349 |
| 64 | MP0002653_abnormal_ependyma_morphology | 1.19832497 |
| 65 | MP0006276_abnormal_autonomic_nervous | 1.16270106 |
| 66 | MP0003861_abnormal_nervous_system | 1.15709068 |
| 67 | MP0003115_abnormal_respiratory_system | 1.15537384 |
| 68 | MP0003941_abnormal_skin_development | 1.13893187 |
| 69 | MP0002067_abnormal_sensory_capabilities | 1.13707074 |
| 70 | MP0005394_taste/olfaction_phenotype | 1.13358320 |
| 71 | MP0005499_abnormal_olfactory_system | 1.13358320 |
| 72 | MP0001440_abnormal_grooming_behavior | 1.11950042 |
| 73 | MP0005670_abnormal_white_adipose | 1.11287947 |
| 74 | MP0003942_abnormal_urinary_system | 1.10259349 |
| 75 | MP0002060_abnormal_skin_morphology | 1.10164493 |
| 76 | MP0005666_abnormal_adipose_tissue | 1.09567933 |
| 77 | MP0000003_abnormal_adipose_tissue | 1.08539865 |
| 78 | MP0008569_lethality_at_weaning | 1.06615731 |
| 79 | MP0008961_abnormal_basal_metabolism | 1.06613129 |
| 80 | MP0003279_aneurysm | 1.06080867 |
| 81 | MP0010234_abnormal_vibrissa_follicle | 1.05895326 |
| 82 | MP0004130_abnormal_muscle_cell | 1.05437783 |
| 83 | MP0004087_abnormal_muscle_fiber | 1.05065071 |
| 84 | MP0003123_paternal_imprinting | 1.03751537 |
| 85 | MP0001177_atelectasis | 1.03711772 |
| 86 | MP0003890_abnormal_embryonic-extraembry | 1.02565906 |
| 87 | MP0004924_abnormal_behavior | 1.02304314 |
| 88 | MP0005386_behavior/neurological_phenoty | 1.02304314 |
| 89 | MP0003879_abnormal_hair_cell | 1.00827295 |
| 90 | MP0005360_urolithiasis | 1.00611027 |
| 91 | MP0000747_muscle_weakness | 1.00578881 |
| 92 | MP0002796_impaired_skin_barrier | 0.99622113 |
| 93 | MP0002009_preneoplasia | 0.99390202 |
| 94 | MP0010630_abnormal_cardiac_muscle | 0.98307272 |
| 95 | MP0002066_abnormal_motor_capabilities/c | 0.97415102 |
| 96 | MP0006138_congestive_heart_failure | 0.97117490 |
| 97 | MP0005375_adipose_tissue_phenotype | 0.96547384 |
| 98 | MP0002234_abnormal_pharynx_morphology | 0.95717552 |
| 99 | MP0003137_abnormal_impulse_conducting | 0.95166526 |
| 100 | MP0003252_abnormal_bile_duct | 0.94833638 |
| 101 | MP0002837_dystrophic_cardiac_calcinosis | 0.93414079 |
| 102 | MP0000759_abnormal_skeletal_muscle | 0.92999246 |
| 103 | MP0010030_abnormal_orbit_morphology | 0.91751705 |
| 104 | MP0003935_abnormal_craniofacial_develop | 0.91071906 |
| 105 | MP0004145_abnormal_muscle_electrophysio | 0.90990831 |
| 106 | MP0002249_abnormal_larynx_morphology | 0.90156994 |
| 107 | MP0000428_abnormal_craniofacial_morphol | 0.88821314 |
| 108 | MP0004272_abnormal_basement_membrane | 0.88798165 |
| 109 | MP0001970_abnormal_pain_threshold | 0.88597744 |
| 110 | MP0005451_abnormal_body_composition | 0.88038278 |
| 111 | MP0005076_abnormal_cell_differentiation | 0.87495793 |
| 112 | MP0005085_abnormal_gallbladder_physiolo | 0.87049016 |
| 113 | MP0002697_abnormal_eye_size | 0.86988679 |
| 114 | MP0002233_abnormal_nose_morphology | 0.86639503 |
| 115 | MP0002735_abnormal_chemical_nociception | 0.86543983 |
| 116 | MP0000767_abnormal_smooth_muscle | 0.86510547 |
| 117 | MP0000432_abnormal_head_morphology | 0.85816086 |
| 118 | MP0001984_abnormal_olfaction | 0.84683828 |
| 119 | MP0000631_abnormal_neuroendocrine_gland | 0.84199184 |
| 120 | MP0003755_abnormal_palate_morphology | 0.84193047 |
| 121 | MP0000467_abnormal_esophagus_morphology | 0.83743977 |
| 122 | MP0002896_abnormal_bone_mineralization | 0.83550433 |
| 123 | MP0004085_abnormal_heartbeat | 0.82650541 |
| 124 | MP0003937_abnormal_limbs/digits/tail_de | 0.82248624 |
| 125 | MP0002089_abnormal_postnatal_growth/wei | 0.81468391 |
| 126 | MP0003634_abnormal_glial_cell | 0.81291728 |
| 127 | MP0003632_abnormal_nervous_system | 0.80993377 |
| 128 | MP0003453_abnormal_keratinocyte_physiol | 0.80503401 |
| 129 | MP0005508_abnormal_skeleton_morphology | 0.79935809 |
| 130 | MP0008789_abnormal_olfactory_epithelium | 0.78793332 |
| 131 | MP0002098_abnormal_vibrissa_morphology | 0.78517609 |
| 132 | MP0002108_abnormal_muscle_morphology | 0.78505083 |
| 133 | MP0005023_abnormal_wound_healing | 0.77402958 |
| 134 | MP0000678_abnormal_parathyroid_gland | 0.76840917 |
| 135 | MP0009250_abnormal_appendicular_skeleto | 0.75629664 |
| 136 | MP0002081_perinatal_lethality | 0.75559710 |
| 137 | MP0005365_abnormal_bile_salt | 0.75267417 |
| 138 | MP0005503_abnormal_tendon_morphology | 0.74488254 |
| 139 | MP0003868_abnormal_feces_composition | 0.74308176 |
| 140 | MP0001915_intracranial_hemorrhage | 0.73765325 |
| 141 | MP0002114_abnormal_axial_skeleton | 0.72648513 |
| 142 | MP0002116_abnormal_craniofacial_bone | 0.72283336 |
| 143 | MP0004215_abnormal_myocardial_fiber | 0.71791310 |
| 144 | MP0009672_abnormal_birth_weight | 0.71764747 |
| 145 | MP0002752_abnormal_somatic_nervous | 0.71460477 |
| 146 | MP0002069_abnormal_eating/drinking_beha | 0.70719675 |
| 147 | MP0005646_abnormal_pituitary_gland | 0.70600164 |
| 148 | MP0004036_abnormal_muscle_relaxation | 0.70107192 |
| 149 | MP0001346_abnormal_lacrimal_gland | 0.69303925 |
| 150 | MP0003938_abnormal_ear_development | 0.69118378 |
| 151 | MP0001879_abnormal_lymphatic_vessel | 0.67681532 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Protrusio acetabuli (HP:0003179) | 3.51732479 |
| 2 | Myokymia (HP:0002411) | 3.16320275 |
| 3 | Action tremor (HP:0002345) | 3.09587717 |
| 4 | Premature rupture of membranes (HP:0001788) | 3.08000837 |
| 5 | Focal seizures (HP:0007359) | 2.92949537 |
| 6 | Abnormality of the lower motor neuron (HP:0002366) | 2.79851780 |
| 7 | Focal motor seizures (HP:0011153) | 2.62792552 |
| 8 | Insidious onset (HP:0003587) | 2.60672502 |
| 9 | Termporal pattern (HP:0011008) | 2.60672502 |
| 10 | Shallow orbits (HP:0000586) | 2.60403241 |
| 11 | Broad face (HP:0000283) | 2.58977235 |
| 12 | Arterial tortuosity (HP:0005116) | 2.58937811 |
| 13 | Macroorchidism (HP:0000053) | 2.56630508 |
| 14 | Vascular tortuosity (HP:0004948) | 2.52417524 |
| 15 | Genetic anticipation (HP:0003743) | 2.48609032 |
| 16 | Drooling (HP:0002307) | 2.48507467 |
| 17 | Excessive salivation (HP:0003781) | 2.48507467 |
| 18 | Ulnar bowing (HP:0003031) | 2.48274652 |
| 19 | Cerebral aneurysm (HP:0004944) | 2.47287272 |
| 20 | Progressive cerebellar ataxia (HP:0002073) | 2.37512181 |
| 21 | Visual hallucinations (HP:0002367) | 2.35421599 |
| 22 | Hepatoblastoma (HP:0002884) | 2.34583032 |
| 23 | Atrophic scars (HP:0001075) | 2.33311738 |
| 24 | Neonatal short-limb short stature (HP:0008921) | 2.32365665 |
| 25 | Short 4th metacarpal (HP:0010044) | 2.31374230 |
| 26 | Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042) | 2.31374230 |
| 27 | Turricephaly (HP:0000262) | 2.27809786 |
| 28 | Vertebral arch anomaly (HP:0008438) | 2.24875224 |
| 29 | Urinary bladder sphincter dysfunction (HP:0002839) | 2.23103434 |
| 30 | Pseudobulbar signs (HP:0002200) | 2.22799210 |
| 31 | Megalencephaly (HP:0001355) | 2.19821866 |
| 32 | Asymmetry of the thorax (HP:0001555) | 2.19622182 |
| 33 | Lymphangioma (HP:0100764) | 2.19267265 |
| 34 | Abnormality of the 4th metacarpal (HP:0010012) | 2.19081684 |
| 35 | Abnormality of the distal phalanx of the thumb (HP:0009617) | 2.18868662 |
| 36 | Elfin facies (HP:0004428) | 2.15604831 |
| 37 | Aplasia involving bones of the extremities (HP:0009825) | 2.14792411 |
| 38 | Aplasia involving bones of the upper limbs (HP:0009823) | 2.14792411 |
| 39 | Aplasia of the phalanges of the hand (HP:0009802) | 2.14792411 |
| 40 | Renovascular hypertension (HP:0100817) | 2.14704962 |
| 41 | Ankle clonus (HP:0011448) | 2.12014540 |
| 42 | Flat acetabular roof (HP:0003180) | 2.11560911 |
| 43 | Impaired vibration sensation in the lower limbs (HP:0002166) | 2.11348008 |
| 44 | Aqueductal stenosis (HP:0002410) | 2.10601942 |
| 45 | Abnormality of the corticospinal tract (HP:0002492) | 2.09057321 |
| 46 | Hyperacusis (HP:0010780) | 2.07525426 |
| 47 | Dysdiadochokinesis (HP:0002075) | 2.07131249 |
| 48 | Insomnia (HP:0100785) | 2.06854505 |
| 49 | Renal duplication (HP:0000075) | 2.05653474 |
| 50 | Dysmetric saccades (HP:0000641) | 2.05319150 |
| 51 | Supranuclear gaze palsy (HP:0000605) | 2.04609210 |
| 52 | Wormian bones (HP:0002645) | 2.04504113 |
| 53 | Lower limb amyotrophy (HP:0007210) | 2.03627329 |
| 54 | Advanced eruption of teeth (HP:0006288) | 2.02954594 |
| 55 | Bronchomalacia (HP:0002780) | 2.01159028 |
| 56 | Fragile skin (HP:0001030) | 2.00390143 |
| 57 | Distal lower limb amyotrophy (HP:0008944) | 1.97952587 |
| 58 | Abnormality of the astrocytes (HP:0100707) | 1.97893199 |
| 59 | Astrocytoma (HP:0009592) | 1.97893199 |
| 60 | Mitral valve prolapse (HP:0001634) | 1.97527378 |
| 61 | Impaired social interactions (HP:0000735) | 1.96912659 |
| 62 | Abnormal social behavior (HP:0012433) | 1.96912659 |
| 63 | Right ventricular cardiomyopathy (HP:0011663) | 1.94128948 |
| 64 | Arnold-Chiari malformation (HP:0002308) | 1.94012385 |
| 65 | Mitral regurgitation (HP:0001653) | 1.93982907 |
| 66 | Spinal rigidity (HP:0003306) | 1.93977187 |
| 67 | Cerebral inclusion bodies (HP:0100314) | 1.93931365 |
| 68 | Urinary urgency (HP:0000012) | 1.93319421 |
| 69 | Epileptic encephalopathy (HP:0200134) | 1.92874158 |
| 70 | Aortic dissection (HP:0002647) | 1.92794155 |
| 71 | Mildly elevated creatine phosphokinase (HP:0008180) | 1.91036395 |
| 72 | Ankle contracture (HP:0006466) | 1.90756270 |
| 73 | Aortic aneurysm (HP:0004942) | 1.90560754 |
| 74 | Pointed chin (HP:0000307) | 1.90553229 |
| 75 | Depression (HP:0000716) | 1.90380058 |
| 76 | Buphthalmos (HP:0000557) | 1.90351192 |
| 77 | Overgrowth (HP:0001548) | 1.90173257 |
| 78 | Short nail (HP:0001799) | 1.88322649 |
| 79 | Upper limb amyotrophy (HP:0009129) | 1.88170774 |
| 80 | Distal upper limb amyotrophy (HP:0007149) | 1.88170774 |
| 81 | Cone-shaped epiphyses of the phalanges of the hand (HP:0010230) | 1.88162412 |
| 82 | Deep venous thrombosis (HP:0002625) | 1.87976596 |
| 83 | Coronal craniosynostosis (HP:0004440) | 1.86495070 |
| 84 | Ankyloglossia (HP:0010296) | 1.86057935 |
| 85 | Cervical subluxation (HP:0003308) | 1.85616786 |
| 86 | Precocious puberty (HP:0000826) | 1.85040524 |
| 87 | Neoplasm of the heart (HP:0100544) | 1.84934388 |
| 88 | Neurofibrillary tangles (HP:0002185) | 1.84406161 |
| 89 | Postural instability (HP:0002172) | 1.83447818 |
| 90 | Increased connective tissue (HP:0009025) | 1.80785036 |
| 91 | Poor eye contact (HP:0000817) | 1.80643489 |
| 92 | Hyperextensible skin (HP:0000974) | 1.80432529 |
| 93 | Patellar dislocation (HP:0002999) | 1.79796764 |
| 94 | Atonic seizures (HP:0010819) | 1.79788132 |
| 95 | Torticollis (HP:0000473) | 1.79657769 |
| 96 | Agitation (HP:0000713) | 1.77820289 |
| 97 | Overriding aorta (HP:0002623) | 1.77558389 |
| 98 | Abnormality of the diencephalon (HP:0010662) | 1.73746397 |
| 99 | Amyotrophic lateral sclerosis (HP:0007354) | 1.73411218 |
| 100 | Aneurysm (HP:0002617) | 1.73030641 |
| 101 | Absence seizures (HP:0002121) | 1.71906053 |
| 102 | Sacral dimple (HP:0000960) | 1.71243387 |
| 103 | Genu recurvatum (HP:0002816) | 1.70844002 |
| 104 | Hypsarrhythmia (HP:0002521) | 1.70563409 |
| 105 | Osteolytic defects of the phalanges of the hand (HP:0009771) | 1.70463095 |
| 106 | Osteolytic defects of the hand bones (HP:0009699) | 1.70463095 |
| 107 | Obstructive sleep apnea (HP:0002870) | 1.70415402 |
| 108 | Intention tremor (HP:0002080) | 1.70363634 |
| 109 | Type 1 muscle fiber predominance (HP:0003803) | 1.70132407 |
| 110 | Thin bony cortex (HP:0002753) | 1.69123647 |
| 111 | Disproportionate tall stature (HP:0001519) | 1.68475368 |
| 112 | Sparse lateral eyebrow (HP:0005338) | 1.68357431 |
| 113 | Germ cell neoplasia (HP:0100728) | 1.68265524 |
| 114 | Papilledema (HP:0001085) | 1.68168981 |
| 115 | Broad metatarsal (HP:0001783) | 1.68121134 |
| 116 | Broad-based gait (HP:0002136) | 1.68021013 |
| 117 | EEG with generalized epileptiform discharges (HP:0011198) | 1.67641671 |
| 118 | Narrow palate (HP:0000189) | 1.67093770 |
| 119 | Bowel diverticulosis (HP:0005222) | 1.66789252 |
| 120 | Enlarged penis (HP:0000040) | 1.65964512 |
| 121 | Increased variability in muscle fiber diameter (HP:0003557) | 1.65917027 |
| 122 | Amblyopia (HP:0000646) | 1.65875890 |
| 123 | Spastic gait (HP:0002064) | 1.65527098 |
| 124 | Flat cornea (HP:0007720) | 1.64823039 |
| 125 | Generalized tonic-clonic seizures (HP:0002069) | 1.64767630 |
| 126 | Cutaneous finger syndactyly (HP:0010554) | 1.64763804 |
| 127 | Lower limb muscle weakness (HP:0007340) | 1.64754736 |
| 128 | Joint laxity (HP:0001388) | 1.64616651 |
| 129 | Abnormality of the phalanges of the hallux (HP:0010057) | 1.64209831 |
| 130 | Mitral stenosis (HP:0001718) | 1.64148347 |
| 131 | Dysmetria (HP:0001310) | 1.63786825 |
| 132 | Epileptiform EEG discharges (HP:0011182) | 1.62261887 |
| 133 | Wide anterior fontanel (HP:0000260) | 1.62202583 |
| 134 | Hammertoe (HP:0001765) | 1.61819344 |
| 135 | Natal tooth (HP:0000695) | 1.61449084 |
| 136 | Ventricular fibrillation (HP:0001663) | 1.60858805 |
| 137 | Abnormality of dentin (HP:0010299) | 1.60270922 |
| 138 | Hyporeflexia of lower limbs (HP:0002600) | 1.59772072 |
| 139 | Distal lower limb muscle weakness (HP:0009053) | 1.59546952 |
| 140 | Microglossia (HP:0000171) | 1.59094224 |
| 141 | Abnormal ossification of hand bones (HP:0005921) | 1.59084994 |
| 142 | Obsessive-compulsive behavior (HP:0000722) | 1.58850946 |
| 143 | Morphological abnormality of the pyramidal tract (HP:0002062) | 1.58722656 |
| 144 | Subacute progressive viral hepatitis (HP:0006572) | 1.58557536 |
| 145 | Hyperthyroidism (HP:0000836) | 1.57339713 |
| 146 | Truncal ataxia (HP:0002078) | 1.56583998 |
| 147 | Difficulty running (HP:0009046) | 1.55576323 |
| 148 | Fibroma (HP:0010614) | 1.55537403 |
| 149 | Relative macrocephaly (HP:0004482) | 1.55377934 |
| 150 | Spinal cord compression (HP:0002176) | 1.55236399 |
| 151 | Absent speech (HP:0001344) | 1.55035899 |
| 152 | Heterotopia (HP:0002282) | 1.55010604 |
| 153 | Hemiplegia (HP:0002301) | 1.54692245 |
| 154 | Bladder diverticulum (HP:0000015) | 1.54395653 |
| 155 | Abnormality of the Achilles tendon (HP:0005109) | 1.54040451 |
| 156 | Intellectual disability, profound (HP:0002187) | 1.53943859 |
| 157 | Bundle branch block (HP:0011710) | 1.53800714 |
| 158 | Back pain (HP:0003418) | 1.53545438 |
| 159 | Gaze-evoked nystagmus (HP:0000640) | 1.53522148 |
| 160 | Febrile seizures (HP:0002373) | 1.53420542 |
| 161 | Blue sclerae (HP:0000592) | 1.53385375 |
| 162 | Long eyelashes (HP:0000527) | 1.52266008 |
| 163 | Sudden death (HP:0001699) | 1.52112211 |
| 164 | Postural tremor (HP:0002174) | 1.52034754 |
| 165 | Impaired vibratory sensation (HP:0002495) | 1.51968240 |
| 166 | Hand muscle atrophy (HP:0009130) | 1.50740854 |
| 167 | Exostoses (HP:0100777) | 1.50603676 |
| 168 | Tracheomalacia (HP:0002779) | 1.50382911 |
| 169 | Tibial bowing (HP:0002982) | 1.49793114 |
| 170 | Bell-shaped thorax (HP:0001591) | 1.49417595 |
| 171 | Absent frontal sinuses (HP:0002688) | 1.49374514 |
| 172 | Achilles tendon contracture (HP:0001771) | 1.49104701 |
| 173 | Biconcave vertebral bodies (HP:0004586) | 1.48891232 |
| 174 | Long palpebral fissure (HP:0000637) | 1.48179416 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MARK1 | 3.90394298 |
| 2 | MAP3K9 | 2.87884633 |
| 3 | NTRK3 | 2.64810106 |
| 4 | EEF2K | 2.62142333 |
| 5 | LATS2 | 2.43532940 |
| 6 | MAP3K4 | 2.39203937 |
| 7 | MINK1 | 2.14448990 |
| 8 | PAK6 | 2.13297201 |
| 9 | TYRO3 | 2.03596483 |
| 10 | STK38 | 2.01455667 |
| 11 | PRKD3 | 1.93001802 |
| 12 | EPHA4 | 1.90335617 |
| 13 | NTRK1 | 1.87748011 |
| 14 | ICK | 1.79521100 |
| 15 | DAPK2 | 1.79179701 |
| 16 | NTRK2 | 1.78766262 |
| 17 | EPHA2 | 1.75504905 |
| 18 | PDGFRA | 1.73556227 |
| 19 | LATS1 | 1.70658057 |
| 20 | KSR1 | 1.70238422 |
| 21 | SMG1 | 1.69216189 |
| 22 | TRIB3 | 1.64850837 |
| 23 | MST1R | 1.64313941 |
| 24 | PHKG2 | 1.59217253 |
| 25 | PHKG1 | 1.59217253 |
| 26 | RIPK1 | 1.58707444 |
| 27 | FGFR4 | 1.56742018 |
| 28 | KSR2 | 1.51616954 |
| 29 | MAP2K4 | 1.51032473 |
| 30 | CAMK1G | 1.49217367 |
| 31 | MET | 1.46499965 |
| 32 | FGFR2 | 1.44708562 |
| 33 | EPHB2 | 1.42966053 |
| 34 | LMTK2 | 1.39786283 |
| 35 | TESK1 | 1.37269277 |
| 36 | SIK1 | 1.35702012 |
| 37 | CAMKK1 | 1.33680528 |
| 38 | DDR2 | 1.33415644 |
| 39 | PAK3 | 1.28939796 |
| 40 | PKN2 | 1.27260598 |
| 41 | RET | 1.25746970 |
| 42 | MAP3K2 | 1.22529347 |
| 43 | UHMK1 | 1.16540911 |
| 44 | AKT3 | 1.13948238 |
| 45 | STK11 | 1.09461283 |
| 46 | CDK5 | 1.04063644 |
| 47 | MAP2K7 | 1.03301951 |
| 48 | PNCK | 1.02545213 |
| 49 | BRD4 | 1.01252420 |
| 50 | FER | 1.00439019 |
| 51 | MAPK13 | 1.00142450 |
| 52 | CAMK1D | 0.99880733 |
| 53 | CASK | 0.97850852 |
| 54 | CDK12 | 0.94210403 |
| 55 | ALK | 0.93434924 |
| 56 | SGK494 | 0.85919866 |
| 57 | SGK223 | 0.85919866 |
| 58 | DMPK | 0.85464779 |
| 59 | NEK1 | 0.85154246 |
| 60 | SGK3 | 0.84666744 |
| 61 | ERBB2 | 0.83992492 |
| 62 | PTK2 | 0.83929615 |
| 63 | CSNK1G2 | 0.83344526 |
| 64 | TAOK1 | 0.81102906 |
| 65 | SCYL2 | 0.80918632 |
| 66 | NEK6 | 0.79608968 |
| 67 | PDGFRB | 0.79500022 |
| 68 | SIK2 | 0.78931010 |
| 69 | ERN1 | 0.78895232 |
| 70 | MTOR | 0.76320523 |
| 71 | PRKCG | 0.76141632 |
| 72 | MARK2 | 0.75444068 |
| 73 | FGFR1 | 0.74516400 |
| 74 | SGK2 | 0.73957924 |
| 75 | PRKCH | 0.73597810 |
| 76 | BMX | 0.71730220 |
| 77 | CDK14 | 0.70594761 |
| 78 | PDPK1 | 0.70225536 |
| 79 | WNK1 | 0.69497304 |
| 80 | PRKD2 | 0.69056318 |
| 81 | WNK3 | 0.67018863 |
| 82 | CDK15 | 0.65712743 |
| 83 | CDC42BPA | 0.65413818 |
| 84 | PRKCZ | 0.64730626 |
| 85 | CDK18 | 0.64364017 |
| 86 | PLK2 | 0.61974676 |
| 87 | ERBB3 | 0.61197479 |
| 88 | NEK9 | 0.60502816 |
| 89 | MAP3K7 | 0.60388498 |
| 90 | CAMK2B | 0.59668335 |
| 91 | CSNK1A1L | 0.58568583 |
| 92 | PAK4 | 0.57261916 |
| 93 | SGK1 | 0.55842003 |
| 94 | PTK6 | 0.55597326 |
| 95 | TTN | 0.55177378 |
| 96 | ROCK2 | 0.54747143 |
| 97 | PRKAA1 | 0.54133142 |
| 98 | CAMK2A | 0.53752003 |
| 99 | CDK11A | 0.52980186 |
| 100 | DYRK2 | 0.52823635 |
| 101 | RPS6KA3 | 0.52294779 |
| 102 | ARAF | 0.52071318 |
| 103 | MAPK10 | 0.50145634 |
| 104 | * ROCK1 | 0.49924448 |
| 105 | ERBB4 | 0.49506015 |
| 106 | PAK2 | 0.49106744 |
| 107 | PRKD1 | 0.48101414 |
| 108 | MAP3K10 | 0.48083743 |
| 109 | DYRK1A | 0.46048761 |
| 110 | PIK3CA | 0.45847184 |
| 111 | CDK7 | 0.45549827 |
| 112 | MAP3K6 | 0.45204292 |
| 113 | CSNK1E | 0.45185567 |
| 114 | IRAK3 | 0.45067742 |
| 115 | RPS6KA2 | 0.44264049 |
| 116 | DYRK1B | 0.44252892 |
| 117 | CSNK1D | 0.44188362 |
| 118 | CAMK2G | 0.42979572 |
| 119 | RPS6KL1 | 0.42723011 |
| 120 | RPS6KC1 | 0.42723011 |
| 121 | CSNK1G1 | 0.42592429 |
| 122 | EPHB1 | 0.42335256 |
| 123 | CAMK1 | 0.41223782 |
| 124 | FGFR3 | 0.40843605 |
| 125 | PRPF4B | 0.40672170 |
| 126 | CAMK4 | 0.40581294 |
| 127 | RPS6KB1 | 0.39357365 |
| 128 | MAP2K1 | 0.39262093 |
| 129 | GSK3B | 0.39077739 |
| 130 | MAPK8 | 0.38562701 |
| 131 | RPS6KB2 | 0.38527411 |
| 132 | MOS | 0.38143703 |
| 133 | BRAF | 0.37440460 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Nitrogen metabolism_Homo sapiens_hsa00910 | 3.25274935 |
| 2 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.79533901 |
| 3 | Nicotine addiction_Homo sapiens_hsa05033 | 1.75400334 |
| 4 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.70718856 |
| 5 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 1.64258971 |
| 6 | GABAergic synapse_Homo sapiens_hsa04727 | 1.63183011 |
| 7 | Axon guidance_Homo sapiens_hsa04360 | 1.60014989 |
| 8 | ECM-receptor interaction_Homo sapiens_hsa04512 | 1.58385280 |
| 9 | Circadian entrainment_Homo sapiens_hsa04713 | 1.56634506 |
| 10 | Long-term potentiation_Homo sapiens_hsa04720 | 1.55889711 |
| 11 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.54670609 |
| 12 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 1.46102135 |
| 13 | Olfactory transduction_Homo sapiens_hsa04740 | 1.44320321 |
| 14 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 1.44050973 |
| 15 | Dopaminergic synapse_Homo sapiens_hsa04728 | 1.43342136 |
| 16 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.42419143 |
| 17 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.42361497 |
| 18 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 1.41742745 |
| 19 | Insulin secretion_Homo sapiens_hsa04911 | 1.40205284 |
| 20 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.39004545 |
| 21 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.38521148 |
| 22 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 1.37337788 |
| 23 | Thyroid cancer_Homo sapiens_hsa05216 | 1.35514270 |
| 24 | Cholinergic synapse_Homo sapiens_hsa04725 | 1.35097997 |
| 25 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.32844538 |
| 26 | Glioma_Homo sapiens_hsa05214 | 1.32005370 |
| 27 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.30545934 |
| 28 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 1.29624391 |
| 29 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 1.25367967 |
| 30 | Endometrial cancer_Homo sapiens_hsa05213 | 1.24162385 |
| 31 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.23421488 |
| 32 | Salivary secretion_Homo sapiens_hsa04970 | 1.23247088 |
| 33 | Bile secretion_Homo sapiens_hsa04976 | 1.22565392 |
| 34 | Morphine addiction_Homo sapiens_hsa05032 | 1.21776782 |
| 35 | Notch signaling pathway_Homo sapiens_hsa04330 | 1.21337086 |
| 36 | Gastric acid secretion_Homo sapiens_hsa04971 | 1.20113437 |
| 37 | Gap junction_Homo sapiens_hsa04540 | 1.19766210 |
| 38 | Melanogenesis_Homo sapiens_hsa04916 | 1.18907395 |
| 39 | Basal cell carcinoma_Homo sapiens_hsa05217 | 1.15356690 |
| 40 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 1.15123673 |
| 41 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.13529223 |
| 42 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 1.09843703 |
| 43 | Renin secretion_Homo sapiens_hsa04924 | 1.08651675 |
| 44 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.08012229 |
| 45 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 1.07947485 |
| 46 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 1.06407540 |
| 47 | GnRH signaling pathway_Homo sapiens_hsa04912 | 1.05319930 |
| 48 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.05000937 |
| 49 | ErbB signaling pathway_Homo sapiens_hsa04012 | 1.04353329 |
| 50 | Cocaine addiction_Homo sapiens_hsa05030 | 1.03969257 |
| 51 | mTOR signaling pathway_Homo sapiens_hsa04150 | 1.03680318 |
| 52 | Long-term depression_Homo sapiens_hsa04730 | 1.01917431 |
| 53 | Hippo signaling pathway_Homo sapiens_hsa04390 | 1.01625822 |
| 54 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.00702369 |
| 55 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 1.00203156 |
| 56 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 0.99935178 |
| 57 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.98655516 |
| 58 | Prostate cancer_Homo sapiens_hsa05215 | 0.97880656 |
| 59 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 0.96047120 |
| 60 | Bladder cancer_Homo sapiens_hsa05219 | 0.93939074 |
| 61 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.93786668 |
| 62 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.93774041 |
| 63 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.92522406 |
| 64 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.89693999 |
| 65 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.88442086 |
| 66 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.88123441 |
| 67 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 0.87895223 |
| 68 | Amoebiasis_Homo sapiens_hsa05146 | 0.86475641 |
| 69 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.86403155 |
| 70 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 0.85807338 |
| 71 | Adherens junction_Homo sapiens_hsa04520 | 0.84963359 |
| 72 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.84607608 |
| 73 | Taste transduction_Homo sapiens_hsa04742 | 0.84511961 |
| 74 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.83944236 |
| 75 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.82953133 |
| 76 | Lysine degradation_Homo sapiens_hsa00310 | 0.82751297 |
| 77 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.82673342 |
| 78 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.80140125 |
| 79 | Renal cell carcinoma_Homo sapiens_hsa05211 | 0.80140092 |
| 80 | Colorectal cancer_Homo sapiens_hsa05210 | 0.79996538 |
| 81 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.79526974 |
| 82 | Small cell lung cancer_Homo sapiens_hsa05222 | 0.79298401 |
| 83 | Tight junction_Homo sapiens_hsa04530 | 0.78307323 |
| 84 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.77977149 |
| 85 | * Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.76990592 |
| 86 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.76935798 |
| 87 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.76768145 |
| 88 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.76428737 |
| 89 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.76325996 |
| 90 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.75773920 |
| 91 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 0.74532790 |
| 92 | Prion diseases_Homo sapiens_hsa05020 | 0.73744705 |
| 93 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 0.73705722 |
| 94 | Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750 | 0.73185891 |
| 95 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.72400312 |
| 96 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.71143345 |
| 97 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.70119747 |
| 98 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.69114350 |
| 99 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 0.68902771 |
| 100 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.68717471 |
| 101 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.67182831 |
| 102 | Insulin resistance_Homo sapiens_hsa04931 | 0.66704967 |
| 103 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 0.66384648 |
| 104 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.66362221 |
| 105 | * Focal adhesion_Homo sapiens_hsa04510 | 0.66345144 |
| 106 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.63148455 |
| 107 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.62267374 |
| 108 | Endocytosis_Homo sapiens_hsa04144 | 0.61568417 |
| 109 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.61177914 |
| 110 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.60558714 |
| 111 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.60498264 |
| 112 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.59678378 |
| 113 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.57389922 |
| 114 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.57210114 |
| 115 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.57120307 |
| 116 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.55880953 |
| 117 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.53648354 |
| 118 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.50570979 |
| 119 | Melanoma_Homo sapiens_hsa05218 | 0.48940567 |
| 120 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.48646564 |
| 121 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 0.47201884 |
| 122 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.46522541 |

