

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | synaptic vesicle maturation (GO:0016188) | 4.42846537 |
| 2 | locomotory exploration behavior (GO:0035641) | 4.39590966 |
| 3 | regulation of short-term neuronal synaptic plasticity (GO:0048172) | 4.38105139 |
| 4 | positive regulation of calcium ion-dependent exocytosis (GO:0045956) | 4.07677321 |
| 5 | vocalization behavior (GO:0071625) | 3.98988683 |
| 6 | positive regulation of excitatory postsynaptic membrane potential (GO:2000463) | 3.96752612 |
| 7 | synaptic vesicle exocytosis (GO:0016079) | 3.78142577 |
| 8 | cellular potassium ion homeostasis (GO:0030007) | 3.74098192 |
| 9 | regulation of synaptic vesicle exocytosis (GO:2000300) | 3.65323585 |
| 10 | glutamate secretion (GO:0014047) | 3.63165670 |
| 11 | sodium ion export (GO:0071436) | 3.60562623 |
| 12 | neuronal action potential propagation (GO:0019227) | 3.50799350 |
| 13 | regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act | 3.47669438 |
| 14 | synaptic vesicle docking involved in exocytosis (GO:0016081) | 3.39265326 |
| 15 | membrane depolarization during cardiac muscle cell action potential (GO:0086012) | 3.37758840 |
| 16 | neurotransmitter secretion (GO:0007269) | 3.32942584 |
| 17 | regulation of glutamate receptor signaling pathway (GO:1900449) | 3.32918887 |
| 18 | cell communication by electrical coupling involved in cardiac conduction (GO:0086064) | 3.27998542 |
| 19 | regulation of synaptic vesicle transport (GO:1902803) | 3.25293704 |
| 20 | activation of protein kinase A activity (GO:0034199) | 3.20003098 |
| 21 | regulation of synapse structural plasticity (GO:0051823) | 3.14242365 |
| 22 | exploration behavior (GO:0035640) | 3.11166055 |
| 23 | potassium ion import (GO:0010107) | 3.06272114 |
| 24 | cerebellar granule cell differentiation (GO:0021707) | 3.06018702 |
| 25 | ionotropic glutamate receptor signaling pathway (GO:0035235) | 3.05004322 |
| 26 | protein localization to synapse (GO:0035418) | 3.04592759 |
| 27 | positive regulation of synaptic transmission, dopaminergic (GO:0032226) | 3.04539375 |
| 28 | cerebellar Purkinje cell differentiation (GO:0021702) | 3.03024811 |
| 29 | layer formation in cerebral cortex (GO:0021819) | 3.00320387 |
| 30 | regulation of neuronal synaptic plasticity (GO:0048168) | 2.99304303 |
| 31 | regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310) | 2.97247796 |
| 32 | regulation of long-term neuronal synaptic plasticity (GO:0048169) | 2.95680865 |
| 33 | positive regulation of potassium ion transmembrane transporter activity (GO:1901018) | 2.95012331 |
| 34 | cell communication by electrical coupling (GO:0010644) | 2.90237519 |
| 35 | long-term memory (GO:0007616) | 2.89338758 |
| 36 | proline transport (GO:0015824) | 2.88345768 |
| 37 | gamma-aminobutyric acid transport (GO:0015812) | 2.87524224 |
| 38 | potassium ion homeostasis (GO:0055075) | 2.85810074 |
| 39 | neuron cell-cell adhesion (GO:0007158) | 2.82472124 |
| 40 | mating behavior (GO:0007617) | 2.80807822 |
| 41 | dendritic spine morphogenesis (GO:0060997) | 2.78888577 |
| 42 | regulation of excitatory postsynaptic membrane potential (GO:0060079) | 2.77785566 |
| 43 | regulation of ARF protein signal transduction (GO:0032012) | 2.77163906 |
| 44 | membrane depolarization during action potential (GO:0086010) | 2.75668652 |
| 45 | glutamate receptor signaling pathway (GO:0007215) | 2.75534970 |
| 46 | neurotransmitter-gated ion channel clustering (GO:0072578) | 2.75281992 |
| 47 | neurotransmitter transport (GO:0006836) | 2.74960425 |
| 48 | regulation of inhibitory postsynaptic membrane potential (GO:0060080) | 2.74296979 |
| 49 | negative regulation of amyloid precursor protein catabolic process (GO:1902992) | 2.73439813 |
| 50 | protein localization to endosome (GO:0036010) | 2.70867558 |
| 51 | glycine transport (GO:0015816) | 2.68825939 |
| 52 | neuron-neuron synaptic transmission (GO:0007270) | 2.68005190 |
| 53 | synaptic transmission, glutamatergic (GO:0035249) | 2.67956901 |
| 54 | regulation of postsynaptic membrane potential (GO:0060078) | 2.66476367 |
| 55 | regulation of vesicle fusion (GO:0031338) | 2.63063568 |
| 56 | regulation of voltage-gated calcium channel activity (GO:1901385) | 2.61602164 |
| 57 | neuromuscular process controlling balance (GO:0050885) | 2.59406101 |
| 58 | positive regulation of membrane potential (GO:0045838) | 2.58663799 |
| 59 | detection of calcium ion (GO:0005513) | 2.57471457 |
| 60 | peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800) | 2.57373383 |
| 61 | regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882) | 2.57220301 |
| 62 | long-term synaptic potentiation (GO:0060291) | 2.56656652 |
| 63 | neuromuscular process controlling posture (GO:0050884) | 2.56314708 |
| 64 | cell communication involved in cardiac conduction (GO:0086065) | 2.56152418 |
| 65 | regulation of neurotransmitter secretion (GO:0046928) | 2.55276512 |
| 66 | positive regulation of potassium ion transmembrane transport (GO:1901381) | 2.54884903 |
| 67 | dendrite morphogenesis (GO:0048813) | 2.53489119 |
| 68 | regulation of neurotransmitter levels (GO:0001505) | 2.51190016 |
| 69 | stress fiber assembly (GO:0043149) | 2.51023922 |
| 70 | regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO | 2.50757799 |
| 71 | membrane depolarization (GO:0051899) | 2.50552354 |
| 72 | membrane hyperpolarization (GO:0060081) | 2.49150224 |
| 73 | regulation of extracellular matrix disassembly (GO:0010715) | 2.49120813 |
| 74 | cellular sodium ion homeostasis (GO:0006883) | 2.48752060 |
| 75 | regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371) | 2.48562773 |
| 76 | cytoskeletal anchoring at plasma membrane (GO:0007016) | 2.48310109 |
| 77 | negative regulation of erythrocyte differentiation (GO:0045647) | 2.48304936 |
| 78 | cell-substrate junction assembly (GO:0007044) | 2.47703492 |
| 79 | regulation of synaptic plasticity (GO:0048167) | 2.47692562 |
| 80 | vesicle transport along microtubule (GO:0047496) | 2.47326281 |
| 81 | protein targeting to plasma membrane (GO:0072661) | 2.46930491 |
| 82 | gamma-aminobutyric acid signaling pathway (GO:0007214) | 2.46478096 |
| 83 | transmission of nerve impulse (GO:0019226) | 2.44851493 |
| 84 | positive regulation of synaptic transmission, glutamatergic (GO:0051968) | 2.43995079 |
| 85 | regulation of synaptic transmission, glutamatergic (GO:0051966) | 2.43287622 |
| 86 | negative regulation of cytosolic calcium ion concentration (GO:0051481) | 2.43084087 |
| 87 | positive regulation of potassium ion transport (GO:0043268) | 2.42807338 |
| 88 | barbed-end actin filament capping (GO:0051016) | 2.42499814 |
| 89 | positive regulation of vesicle fusion (GO:0031340) | 2.41994343 |
| 90 | positive regulation of receptor recycling (GO:0001921) | 2.41531772 |
| 91 | extracellular matrix assembly (GO:0085029) | 2.41307144 |
| 92 | membrane repolarization (GO:0086009) | 2.41304103 |
| 93 | negative regulation of synaptic transmission, GABAergic (GO:0032229) | 2.38716487 |
| 94 | regulation of dendritic spine morphogenesis (GO:0061001) | 2.38130064 |
| 95 | endothelial cell chemotaxis (GO:0035767) | 2.37792934 |
| 96 | auditory behavior (GO:0031223) | 2.37708292 |
| 97 | regulation of neurotransmitter transport (GO:0051588) | 2.37615603 |
| 98 | adherens junction assembly (GO:0034333) | 2.37456151 |
| 99 | positive regulation of fibroblast migration (GO:0010763) | 2.37432305 |
| 100 | peptidyl-tyrosine autophosphorylation (GO:0038083) | 2.36902149 |
| 101 | synaptic vesicle endocytosis (GO:0048488) | 2.36729032 |
| 102 | neuronal ion channel clustering (GO:0045161) | 2.36656469 |
| 103 | cellular response to monoamine stimulus (GO:0071868) | 2.36500518 |
| 104 | cellular response to catecholamine stimulus (GO:0071870) | 2.36500518 |
| 105 | response to auditory stimulus (GO:0010996) | 2.36018472 |
| 106 | positive regulation of Rap GTPase activity (GO:0032854) | 2.35704218 |
| 107 | neuron recognition (GO:0008038) | 2.35277544 |
| 108 | positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316) | 2.34489943 |
| 109 | regulation of calcium ion transmembrane transporter activity (GO:1901019) | 2.33868662 |
| 110 | regulation of calcium ion transmembrane transport (GO:1903169) | 2.33868662 |
| 111 | positive regulation of synaptic transmission, GABAergic (GO:0032230) | 2.33486835 |
| 112 | innervation (GO:0060384) | 2.32981144 |
| 113 | prepulse inhibition (GO:0060134) | 2.32939189 |
| 114 | regulation of clathrin-mediated endocytosis (GO:2000369) | 2.32703119 |
| 115 | L-amino acid import (GO:0043092) | 2.32532594 |
| 116 | cellular response to epinephrine stimulus (GO:0071872) | 2.32247765 |
| 117 | G-protein coupled acetylcholine receptor signaling pathway (GO:0007213) | 2.32058931 |
| 118 | negative regulation of toll-like receptor 4 signaling pathway (GO:0034144) | 2.31754035 |
| 119 | focal adhesion assembly (GO:0048041) | 2.31047647 |
| 120 | cell-substrate adherens junction assembly (GO:0007045) | 2.31047647 |
| 121 | suckling behavior (GO:0001967) | 2.28555124 |
| 122 | positive regulation of synaptic transmission (GO:0050806) | 2.28103288 |
| 123 | regulation of membrane repolarization (GO:0060306) | 2.27866426 |
| 124 | regulation of early endosome to late endosome transport (GO:2000641) | 2.25273571 |
| 125 | cortical actin cytoskeleton organization (GO:0030866) | 2.25243078 |
| 126 | regulation of T-helper 2 cell differentiation (GO:0045628) | 2.23848201 |
| 127 | positive regulation of synapse maturation (GO:0090129) | 2.23747008 |
| 128 | skin morphogenesis (GO:0043589) | 2.22050781 |
| 129 | cAMP biosynthetic process (GO:0006171) | 2.16646137 |
| 130 | cell volume homeostasis (GO:0006884) | 2.12649031 |
| 131 | negative regulation of fatty acid transport (GO:2000192) | 2.12527022 |
| 132 | signal complex assembly (GO:0007172) | 2.11201294 |
| 133 | protein heterotrimerization (GO:0070208) | 2.09039187 |
| 134 | hemidesmosome assembly (GO:0031581) | 2.08889102 |
| 135 | cortical cytoskeleton organization (GO:0030865) | 2.08837270 |
| 136 | positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:00360 | 2.08546830 |
| 137 | insulin-like growth factor receptor signaling pathway (GO:0048009) | 2.08159540 |
| 138 | vascular endothelial growth factor receptor signaling pathway (GO:0048010) | 2.07391762 |
| 139 | regulation of Rap GTPase activity (GO:0032317) | 2.06977075 |
| 140 | positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr | 2.06722903 |
| 141 | positive regulation of protein dephosphorylation (GO:0035307) | 2.05946206 |
| 142 | hypotonic response (GO:0006971) | 2.04890692 |
| 143 | amino acid import (GO:0043090) | 2.04772773 |
| 144 | response to laminar fluid shear stress (GO:0034616) | 2.04491005 |
| 145 | cellular response to vascular endothelial growth factor stimulus (GO:0035924) | 2.03626546 |
| 146 | surfactant homeostasis (GO:0043129) | 2.03268438 |
| 147 | response to fluid shear stress (GO:0034405) | 2.02364643 |
| 148 | response to catecholamine (GO:0071869) | 2.01898245 |
| 149 | response to monoamine (GO:0071867) | 2.01898245 |
| 150 | extracellular fibril organization (GO:0043206) | 2.00875743 |
| 151 | vascular endothelial growth factor signaling pathway (GO:0038084) | 2.00610112 |
| 152 | semaphorin-plexin signaling pathway (GO:0071526) | 1.99758051 |
| 153 | endocytic recycling (GO:0032456) | 1.98902292 |
| 154 | fibril organization (GO:0097435) | 1.97471381 |
| 155 | positive regulation of extracellular matrix organization (GO:1903055) | 1.92367774 |
| 156 | negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067) | 1.91970903 |
| 157 | dopamine receptor signaling pathway (GO:0007212) | 1.91643108 |
| 158 | myelin maintenance (GO:0043217) | 1.91451574 |
| 159 | positive regulation of blood vessel endothelial cell migration (GO:0043536) | 1.90431795 |
| 160 | positive regulation of axon extension (GO:0045773) | 1.90110982 |
| 161 | regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307) | 1.89273513 |
| 162 | neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976) | 1.88805458 |
| 163 | regulation of ARF GTPase activity (GO:0032312) | 1.88553832 |
| 164 | venous blood vessel morphogenesis (GO:0048845) | 1.86912848 |
| 165 | cell migration involved in heart development (GO:0060973) | 1.86075644 |
| 166 | mannose metabolic process (GO:0006013) | 1.85789846 |
| 167 | negative regulation of Ras protein signal transduction (GO:0046580) | 1.85468106 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 3.84719439 |
| 2 | SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 2.74735373 |
| 3 | SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 2.64971002 |
| 4 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 2.52175627 |
| 5 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.48058861 |
| 6 | EZH2_18974828_ChIP-Seq_MESCs_Mouse | 2.44153483 |
| 7 | RNF2_18974828_ChIP-Seq_MESCs_Mouse | 2.44153483 |
| 8 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 2.42392900 |
| 9 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 2.41129491 |
| 10 | DROSHA_22980978_ChIP-Seq_HELA_Human | 2.35437696 |
| 11 | MTF2_20144788_ChIP-Seq_MESCs_Mouse | 2.32034370 |
| 12 | SUZ12_18692474_ChIP-Seq_MEFs_Mouse | 2.27855939 |
| 13 | * SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 2.26892899 |
| 14 | SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 2.24849509 |
| 15 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 2.20688723 |
| 16 | SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 2.15154973 |
| 17 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.96201063 |
| 18 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.93409006 |
| 19 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.92234120 |
| 20 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 1.91620058 |
| 21 | * RARB_27405468_Chip-Seq_BRAIN_Mouse | 1.91585200 |
| 22 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.89954543 |
| 23 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.88663808 |
| 24 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 1.86786791 |
| 25 | RNF2_27304074_Chip-Seq_ESCs_Mouse | 1.86577539 |
| 26 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.78512439 |
| 27 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.75185864 |
| 28 | IKZF1_21737484_ChIP-ChIP_HCT116_Human | 1.73564655 |
| 29 | KDM2B_26808549_Chip-Seq_DND41_Human | 1.65522050 |
| 30 | ELK3_25401928_ChIP-Seq_HUVEC_Human | 1.57170603 |
| 31 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 1.52458583 |
| 32 | ZFP281_18757296_ChIP-ChIP_E14_Mouse | 1.51793285 |
| 33 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.49473832 |
| 34 | TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.49250638 |
| 35 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.48060437 |
| 36 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 1.47088465 |
| 37 | REST_18959480_ChIP-ChIP_MESCs_Mouse | 1.45569270 |
| 38 | EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.45495872 |
| 39 | SMAD3_22036565_ChIP-Seq_ESCs_Mouse | 1.44854542 |
| 40 | TCF7_22412390_ChIP-Seq_EML_Mouse | 1.44626621 |
| 41 | RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 1.42072502 |
| 42 | SMAD_19615063_ChIP-ChIP_OVARY_Human | 1.41774401 |
| 43 | RACK7_27058665_Chip-Seq_MCF-7_Human | 1.41665352 |
| 44 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.41552655 |
| 45 | KDM2B_26808549_Chip-Seq_SIL-ALL_Human | 1.41148617 |
| 46 | * TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 1.39753911 |
| 47 | ESR1_22446102_ChIP-Seq_UTERUS_Mouse | 1.39094568 |
| 48 | KDM2B_26808549_Chip-Seq_JURKAT_Human | 1.38261178 |
| 49 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.37100087 |
| 50 | NR3C1_23031785_ChIP-Seq_PC12_Mouse | 1.34844746 |
| 51 | * ZFP281_27345836_Chip-Seq_ESCs_Mouse | 1.34208479 |
| 52 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.33082249 |
| 53 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 1.30135029 |
| 54 | ERG_21242973_ChIP-ChIP_JURKAT_Human | 1.30116824 |
| 55 | * WT1_25993318_ChIP-Seq_PODOCYTE_Human | 1.29982418 |
| 56 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.29476909 |
| 57 | EP300_21415370_ChIP-Seq_HL-1_Mouse | 1.28283774 |
| 58 | TBX20_22080862_ChIP-Seq_HEART_Mouse | 1.26964615 |
| 59 | TBX20_22328084_ChIP-Seq_HEART_Mouse | 1.26964615 |
| 60 | KDM2B_26808549_Chip-Seq_K562_Human | 1.26874023 |
| 61 | SOX9_24532713_ChIP-Seq_HFSC_Mouse | 1.26695717 |
| 62 | CLOCK_20551151_ChIP-Seq_293T_Human | 1.25268419 |
| 63 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 1.23607211 |
| 64 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.23541979 |
| 65 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.22481716 |
| 66 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.20285193 |
| 67 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 1.15508457 |
| 68 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.15499678 |
| 69 | UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 1.14814555 |
| 70 | WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 1.14679627 |
| 71 | SOX2_21211035_ChIP-Seq_LN229_Gbm | 1.14602217 |
| 72 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.14470695 |
| 73 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.13596956 |
| 74 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 1.13179152 |
| 75 | P300_27058665_Chip-Seq_ZR-75-30cells_Human | 1.13127856 |
| 76 | RING1B_27294783_Chip-Seq_ESCs_Mouse | 1.12990800 |
| 77 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.12661450 |
| 78 | * DMRT1_23473982_ChIP-Seq_TESTES_Mouse | 1.12007499 |
| 79 | TET1_21490601_ChIP-Seq_MESCs_Mouse | 1.11491132 |
| 80 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.11183158 |
| 81 | BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human | 1.11044254 |
| 82 | PHC1_16625203_ChIP-ChIP_MESCs_Mouse | 1.10877902 |
| 83 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.10567429 |
| 84 | VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human | 1.10182176 |
| 85 | DNAJC2_21179169_ChIP-ChIP_NT2_Human | 1.09705564 |
| 86 | AR_19668381_ChIP-Seq_PC3_Human | 1.07311906 |
| 87 | STAT6_20620947_ChIP-Seq_CD4_POS_T_Human | 1.07275682 |
| 88 | KDM2B_26808549_Chip-Seq_HPB-ALL_Human | 1.05204614 |
| 89 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 1.04837066 |
| 90 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.04322695 |
| 91 | NR1I2_20693526_ChIP-Seq_LIVER_Mouse | 1.04056158 |
| 92 | GATA1_19941826_ChIP-Seq_K562_Human | 1.03943347 |
| 93 | CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons | 1.03123167 |
| 94 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 1.03091688 |
| 95 | RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 1.02836237 |
| 96 | SMAD3_21741376_ChIP-Seq_HESCs_Human | 1.02530737 |
| 97 | AR_25329375_ChIP-Seq_VCAP_Human | 1.02506479 |
| 98 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.02262110 |
| 99 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.01375579 |
| 100 | TP53_16413492_ChIP-PET_HCT116_Human | 1.01177213 |
| 101 | STAT3_23295773_ChIP-Seq_U87_Human | 1.01029435 |
| 102 | SMC1_22415368_ChIP-Seq_MEFs_Mouse | 1.00526286 |
| 103 | TP53_23651856_ChIP-Seq_MEFs_Mouse | 1.00163941 |
| 104 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 0.99976699 |
| 105 | SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 0.99633413 |
| 106 | SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 0.99345037 |
| 107 | CREB1_26743006_Chip-Seq_LNCaP_Human | 0.98875275 |
| 108 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 0.98237233 |
| 109 | ZNF274_21170338_ChIP-Seq_K562_Hela | 0.97032565 |
| 110 | * CREB1_26743006_Chip-Seq_LNCaP-abl_Human | 0.96719554 |
| 111 | P300_19829295_ChIP-Seq_ESCs_Human | 0.96684745 |
| 112 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 0.96610612 |
| 113 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.96529342 |
| 114 | EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human | 0.96054429 |
| 115 | RUNX1_27514584_Chip-Seq_MCF-7_Human | 0.95972018 |
| 116 | RXR_22108803_ChIP-Seq_LS180_Human | 0.95322502 |
| 117 | OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 0.95129779 |
| 118 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 0.94978366 |
| 119 | CTCF_27219007_Chip-Seq_ERYTHROID_Human | 0.94653085 |
| 120 | * KDM2B_26808549_Chip-Seq_SUP-B15_Human | 0.94586161 |
| 121 | GATA1_19941827_ChIP-Seq_MEL_Mouse | 0.94238776 |
| 122 | RING1B_27294783_Chip-Seq_NPCs_Mouse | 0.94120043 |
| 123 | CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 0.93915443 |
| 124 | GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 0.92049261 |
| 125 | TP53_20018659_ChIP-ChIP_R1E_Mouse | 0.91325406 |
| 126 | KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.91305111 |
| 127 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 0.91287472 |
| 128 | TP53_18474530_ChIP-ChIP_U2OS_Human | 0.90554155 |
| 129 | FOXP3_17237761_ChIP-ChIP_TREG_Mouse | 0.90354314 |
| 130 | NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human | 0.89968355 |
| 131 | CTNNB1_20460455_ChIP-Seq_HCT116_Human | 0.89218194 |
| 132 | NRF2_20460467_ChIP-Seq_MEFs_Mouse | 0.88080459 |
| 133 | NFE2L2_20460467_ChIP-Seq_MEFs_Mouse | 0.88080459 |
| 134 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 0.87747250 |
| 135 | * KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.87555057 |
| 136 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 0.87377863 |
| 137 | SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 0.87256127 |
| 138 | YAP1_20516196_ChIP-Seq_MESCs_Mouse | 0.87118665 |
| 139 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 0.86815582 |
| 140 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 0.86212208 |
| 141 | * EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse | 0.86171354 |
| 142 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 0.85780472 |
| 143 | * TCF4_23295773_ChIP-Seq_U87_Human | 0.85754330 |
| 144 | GATA2_21666600_ChIP-Seq_HMVEC_Human | 0.84780589 |
| 145 | * TP63_22573176_ChIP-Seq_HFKS_Human | 0.84411333 |
| 146 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.84131255 |
| 147 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 0.83480254 |
| 148 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.82755720 |
| 149 | TCF3_18467660_ChIP-ChIP_MESCs_Mouse | 0.82422595 |
| 150 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 0.81682667 |
| 151 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 0.81486376 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0004859_abnormal_synaptic_plasticity | 5.17282418 |
| 2 | MP0003705_abnormal_hypodermis_morpholog | 3.84514467 |
| 3 | MP0008438_abnormal_cutaneous_collagen | 3.63166837 |
| 4 | MP0003635_abnormal_synaptic_transmissio | 3.38688648 |
| 5 | MP0004270_analgesia | 3.35854436 |
| 6 | MP0003880_abnormal_central_pattern | 3.29823978 |
| 7 | MP0003279_aneurysm | 2.84359651 |
| 8 | MP0005275_abnormal_skin_tensile | 2.79841172 |
| 9 | MP0009745_abnormal_behavioral_response | 2.72302021 |
| 10 | MP0009046_muscle_twitch | 2.66840306 |
| 11 | MP0002064_seizures | 2.65931330 |
| 12 | MP0002822_catalepsy | 2.61993500 |
| 13 | MP0005503_abnormal_tendon_morphology | 2.59169309 |
| 14 | MP0002063_abnormal_learning/memory/cond | 2.44639509 |
| 15 | MP0009780_abnormal_chondrocyte_physiolo | 2.38580250 |
| 16 | MP0002909_abnormal_adrenal_gland | 2.33671917 |
| 17 | MP0001968_abnormal_touch/_nociception | 2.30852363 |
| 18 | MP0002272_abnormal_nervous_system | 2.27239875 |
| 19 | MP0001501_abnormal_sleep_pattern | 2.25037623 |
| 20 | MP0002572_abnormal_emotion/affect_behav | 2.14348839 |
| 21 | MP0002734_abnormal_mechanical_nocicepti | 2.13524440 |
| 22 | MP0003566_abnormal_cell_adhesion | 2.08471737 |
| 23 | MP0001486_abnormal_startle_reflex | 2.05416344 |
| 24 | MP0005423_abnormal_somatic_nervous | 1.98136659 |
| 25 | MP0008569_lethality_at_weaning | 1.97726356 |
| 26 | MP0000751_myopathy | 1.95652886 |
| 27 | MP0002837_dystrophic_cardiac_calcinosis | 1.94172844 |
| 28 | MP0003091_abnormal_cell_migration | 1.89043511 |
| 29 | MP0000013_abnormal_adipose_tissue | 1.83961535 |
| 30 | MP0001348_abnormal_lacrimal_gland | 1.75970829 |
| 31 | MP0001440_abnormal_grooming_behavior | 1.67915937 |
| 32 | MP0003329_amyloid_beta_deposits | 1.67482867 |
| 33 | MP0001970_abnormal_pain_threshold | 1.66422437 |
| 34 | MP0002735_abnormal_chemical_nociception | 1.66389804 |
| 35 | MP0002067_abnormal_sensory_capabilities | 1.66175753 |
| 36 | MP0002733_abnormal_thermal_nociception | 1.64163852 |
| 37 | MP0004858_abnormal_nervous_system | 1.63787750 |
| 38 | MP0002736_abnormal_nociception_after | 1.62134395 |
| 39 | MP0004272_abnormal_basement_membrane | 1.55658217 |
| 40 | MP0005551_abnormal_eye_electrophysiolog | 1.46453525 |
| 41 | MP0010368_abnormal_lymphatic_system | 1.45861006 |
| 42 | MP0000767_abnormal_smooth_muscle | 1.44890383 |
| 43 | MP0004130_abnormal_muscle_cell | 1.42839323 |
| 44 | MP0003633_abnormal_nervous_system | 1.41745477 |
| 45 | MP0003045_fibrosis | 1.40770391 |
| 46 | MP0001849_ear_inflammation | 1.40046533 |
| 47 | MP0008961_abnormal_basal_metabolism | 1.37953370 |
| 48 | MP0004885_abnormal_endolymph | 1.37697626 |
| 49 | MP0002184_abnormal_innervation | 1.35908045 |
| 50 | MP0004924_abnormal_behavior | 1.35635670 |
| 51 | MP0005386_behavior/neurological_phenoty | 1.35635670 |
| 52 | MP0003300_gastrointestinal_ulcer | 1.35595712 |
| 53 | MP0003191_abnormal_cellular_cholesterol | 1.35576482 |
| 54 | MP0005023_abnormal_wound_healing | 1.33412183 |
| 55 | MP0002090_abnormal_vision | 1.30611246 |
| 56 | MP0004145_abnormal_muscle_electrophysio | 1.30296655 |
| 57 | MP0002557_abnormal_social/conspecific_i | 1.28830413 |
| 58 | MP0004036_abnormal_muscle_relaxation | 1.26934747 |
| 59 | MP0005257_abnormal_intraocular_pressure | 1.26340249 |
| 60 | MP0010386_abnormal_urinary_bladder | 1.25667359 |
| 61 | MP0003690_abnormal_glial_cell | 1.24103533 |
| 62 | MP0004811_abnormal_neuron_physiology | 1.21722112 |
| 63 | MP0004215_abnormal_myocardial_fiber | 1.19023111 |
| 64 | MP0005058_abnormal_lysosome_morphology | 1.18145419 |
| 65 | MP0002896_abnormal_bone_mineralization | 1.17870460 |
| 66 | MP0009384_cardiac_valve_regurgitation | 1.17847344 |
| 67 | MP0001502_abnormal_circadian_rhythm | 1.16999157 |
| 68 | MP0002998_abnormal_bone_remodeling | 1.16978746 |
| 69 | MP0010234_abnormal_vibrissa_follicle | 1.16304511 |
| 70 | MP0004085_abnormal_heartbeat | 1.16030973 |
| 71 | MP0002295_abnormal_pulmonary_circulatio | 1.15987672 |
| 72 | MP0003879_abnormal_hair_cell | 1.15366604 |
| 73 | MP0000955_abnormal_spinal_cord | 1.15012881 |
| 74 | MP0005623_abnormal_meninges_morphology | 1.13875893 |
| 75 | MP0002882_abnormal_neuron_morphology | 1.13777385 |
| 76 | MP0002066_abnormal_motor_capabilities/c | 1.12945472 |
| 77 | MP0005167_abnormal_blood-brain_barrier | 1.11514145 |
| 78 | MP0003828_pulmonary_edema | 1.10390415 |
| 79 | MP0000920_abnormal_myelination | 1.08566798 |
| 80 | MP0001984_abnormal_olfaction | 1.08072391 |
| 81 | MP0004484_altered_response_of | 1.07348841 |
| 82 | MP0000778_abnormal_nervous_system | 1.07119041 |
| 83 | MP0002108_abnormal_muscle_morphology | 1.07051328 |
| 84 | MP0003631_nervous_system_phenotype | 1.06173398 |
| 85 | MP0005388_respiratory_system_phenotype | 1.05846784 |
| 86 | MP0002133_abnormal_respiratory_system | 1.05846784 |
| 87 | MP0002229_neurodegeneration | 1.05493165 |
| 88 | MP0001542_abnormal_bone_strength | 1.04772835 |
| 89 | MP0005670_abnormal_white_adipose | 1.04327490 |
| 90 | MP0002933_joint_inflammation | 1.04322176 |
| 91 | MP0004084_abnormal_cardiac_muscle | 1.04096521 |
| 92 | MP0008874_decreased_physiological_sensi | 1.02710157 |
| 93 | MP0002060_abnormal_skin_morphology | 1.02254498 |
| 94 | MP0005508_abnormal_skeleton_morphology | 1.01154254 |
| 95 | MP0004510_myositis | 1.00620826 |
| 96 | MP0003634_abnormal_glial_cell | 1.00170155 |
| 97 | MP0001177_atelectasis | 0.98360812 |
| 98 | MP0005535_abnormal_body_temperature | 0.98077131 |
| 99 | MP0005666_abnormal_adipose_tissue | 0.97811921 |
| 100 | MP0000003_abnormal_adipose_tissue | 0.97411224 |
| 101 | MP0006276_abnormal_autonomic_nervous | 0.96824217 |
| 102 | MP0006072_abnormal_retinal_apoptosis | 0.93155463 |
| 103 | MP0005646_abnormal_pituitary_gland | 0.91562202 |
| 104 | MP0003075_altered_response_to | 0.91516555 |
| 105 | MP0000759_abnormal_skeletal_muscle | 0.90385190 |
| 106 | MP0005620_abnormal_muscle_contractility | 0.89842932 |
| 107 | MP0003283_abnormal_digestive_organ | 0.89526559 |
| 108 | MP0003453_abnormal_keratinocyte_physiol | 0.89510579 |
| 109 | MP0000733_abnormal_muscle_development | 0.87898184 |
| 110 | MP0001851_eye_inflammation | 0.86504974 |
| 111 | MP0002249_abnormal_larynx_morphology | 0.86504363 |
| 112 | MP0001958_emphysema | 0.85636220 |
| 113 | MP0000747_muscle_weakness | 0.84308199 |
| 114 | MP0001299_abnormal_eye_distance/ | 0.83398608 |
| 115 | MP0005390_skeleton_phenotype | 0.82882947 |
| 116 | MP0002877_abnormal_melanocyte_morpholog | 0.82631574 |
| 117 | MP0001533_abnormal_skeleton_physiology | 0.80629263 |
| 118 | MP0001879_abnormal_lymphatic_vessel | 0.78925256 |
| 119 | MP0004947_skin_inflammation | 0.78753355 |
| 120 | MP0004043_abnormal_pH_regulation | 0.78307782 |
| 121 | MP0005375_adipose_tissue_phenotype | 0.78160845 |
| 122 | MP0000678_abnormal_parathyroid_gland | 0.77579020 |
| 123 | MP0000534_abnormal_ureter_morphology | 0.77551563 |
| 124 | MP0002972_abnormal_cardiac_muscle | 0.77222174 |
| 125 | MP0000604_amyloidosis | 0.77027324 |
| 126 | MP0000681_abnormal_thyroid_gland | 0.75864030 |
| 127 | MP0001905_abnormal_dopamine_level | 0.75802487 |
| 128 | MP0005164_abnormal_response_to | 0.75475087 |
| 129 | MP0003183_abnormal_peptide_metabolism | 0.74471444 |
| 130 | MP0003137_abnormal_impulse_conducting | 0.74449828 |
| 131 | MP0005165_increased_susceptibility_to | 0.74422726 |
| 132 | MP0005645_abnormal_hypothalamus_physiol | 0.74361302 |
| 133 | MP0002971_abnormal_brown_adipose | 0.73956930 |
| 134 | MP0004742_abnormal_vestibular_system | 0.73731428 |
| 135 | MP0005409_darkened_coat_color | 0.73711083 |
| 136 | MP0002069_abnormal_eating/drinking_beha | 0.73114899 |
| 137 | MP0008872_abnormal_physiological_respon | 0.72517441 |
| 138 | MP0003436_decreased_susceptibility_to | 0.72016442 |
| 139 | MP0003303_peritoneal_inflammation | 0.71844307 |
| 140 | MP0004883_abnormal_blood_vessel | 0.71622240 |
| 141 | MP0009840_abnormal_foam_cell | 0.71494377 |
| 142 | MP0006138_congestive_heart_failure | 0.70097157 |
| 143 | MP0000749_muscle_degeneration | 0.69170906 |
| 144 | MP0000230_abnormal_systemic_arterial | 0.68961922 |
| 145 | MP0004185_abnormal_adipocyte_glucose | 0.68145966 |
| 146 | MP0001765_abnormal_ion_homeostasis | 0.67970787 |
| 147 | MP0005595_abnormal_vascular_smooth | 0.67307924 |
| 148 | MP0004142_abnormal_muscle_tone | 0.67288535 |
| 149 | MP0003632_abnormal_nervous_system | 0.67057269 |
| 150 | MP0003172_abnormal_lysosome_physiology | 0.66976174 |
| 151 | MP0002152_abnormal_brain_morphology | 0.66756636 |
| 152 | MP0004087_abnormal_muscle_fiber | 0.66011627 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Focal motor seizures (HP:0011153) | 5.60630270 |
| 2 | Myokymia (HP:0002411) | 4.80101370 |
| 3 | Focal seizures (HP:0007359) | 4.39316855 |
| 4 | Protrusio acetabuli (HP:0003179) | 4.30900698 |
| 5 | Visual hallucinations (HP:0002367) | 4.06442715 |
| 6 | Action tremor (HP:0002345) | 3.96524970 |
| 7 | Atonic seizures (HP:0010819) | 3.72206470 |
| 8 | Aortic aneurysm (HP:0004942) | 3.56157464 |
| 9 | Progressive cerebellar ataxia (HP:0002073) | 3.45000112 |
| 10 | Supranuclear gaze palsy (HP:0000605) | 3.41213378 |
| 11 | Febrile seizures (HP:0002373) | 3.31314306 |
| 12 | Premature rupture of membranes (HP:0001788) | 3.24635387 |
| 13 | Absence seizures (HP:0002121) | 3.24351654 |
| 14 | Epileptic encephalopathy (HP:0200134) | 3.23728359 |
| 15 | Aortic dissection (HP:0002647) | 2.96927434 |
| 16 | Generalized tonic-clonic seizures (HP:0002069) | 2.91534997 |
| 17 | Dialeptic seizures (HP:0011146) | 2.90901473 |
| 18 | Dysdiadochokinesis (HP:0002075) | 2.88609408 |
| 19 | Ankle clonus (HP:0011448) | 2.86163556 |
| 20 | Shallow orbits (HP:0000586) | 2.84244101 |
| 21 | Dysmetria (HP:0001310) | 2.79230230 |
| 22 | Ventricular fibrillation (HP:0001663) | 2.74875021 |
| 23 | Hemiplegia (HP:0002301) | 2.73849954 |
| 24 | Depression (HP:0000716) | 2.73495867 |
| 25 | Type 1 muscle fiber predominance (HP:0003803) | 2.69942127 |
| 26 | Neurofibrillary tangles (HP:0002185) | 2.64283848 |
| 27 | Atrophic scars (HP:0001075) | 2.64206336 |
| 28 | Postural instability (HP:0002172) | 2.63301221 |
| 29 | Broad-based gait (HP:0002136) | 2.62767319 |
| 30 | Truncal ataxia (HP:0002078) | 2.62287956 |
| 31 | Anxiety (HP:0000739) | 2.61232502 |
| 32 | Intention tremor (HP:0002080) | 2.58418805 |
| 33 | Gaze-evoked nystagmus (HP:0000640) | 2.49406211 |
| 34 | Dysmetric saccades (HP:0000641) | 2.48633386 |
| 35 | Increased connective tissue (HP:0009025) | 2.45381732 |
| 36 | Prolonged QT interval (HP:0001657) | 2.44877855 |
| 37 | Cerebral inclusion bodies (HP:0100314) | 2.42844545 |
| 38 | Spinal rigidity (HP:0003306) | 2.41148835 |
| 39 | Broad metatarsal (HP:0001783) | 2.39906554 |
| 40 | Abnormality of skeletal muscle fiber size (HP:0012084) | 2.39355071 |
| 41 | Sudden death (HP:0001699) | 2.38968661 |
| 42 | Genetic anticipation (HP:0003743) | 2.38260549 |
| 43 | Scanning speech (HP:0002168) | 2.38251380 |
| 44 | Distal lower limb muscle weakness (HP:0009053) | 2.38068427 |
| 45 | Abnormal social behavior (HP:0012433) | 2.36156360 |
| 46 | Impaired social interactions (HP:0000735) | 2.36156360 |
| 47 | Central scotoma (HP:0000603) | 2.34999423 |
| 48 | Elevated circulating parathyroid hormone (PTH) level (HP:0003165) | 2.33406281 |
| 49 | Aneurysm (HP:0002617) | 2.33020922 |
| 50 | Fragile skin (HP:0001030) | 2.32547931 |
| 51 | Rapidly progressive (HP:0003678) | 2.32063717 |
| 52 | Wormian bones (HP:0002645) | 2.31348393 |
| 53 | Asymmetric septal hypertrophy (HP:0001670) | 2.30803811 |
| 54 | Vertebral compression fractures (HP:0002953) | 2.30660084 |
| 55 | Dilatation of the ascending aorta (HP:0005111) | 2.30353537 |
| 56 | Bladder diverticulum (HP:0000015) | 2.29862410 |
| 57 | Abnormal eating behavior (HP:0100738) | 2.29667503 |
| 58 | Urinary bladder sphincter dysfunction (HP:0002839) | 2.28996978 |
| 59 | Exercise-induced myalgia (HP:0003738) | 2.28804404 |
| 60 | Mitral regurgitation (HP:0001653) | 2.28430933 |
| 61 | Poor eye contact (HP:0000817) | 2.27683536 |
| 62 | Bundle branch block (HP:0011710) | 2.27456763 |
| 63 | Papilledema (HP:0001085) | 2.26395858 |
| 64 | Hyporeflexia of lower limbs (HP:0002600) | 2.24104447 |
| 65 | Syncope (HP:0001279) | 2.23166890 |
| 66 | Broad face (HP:0000283) | 2.20023722 |
| 67 | Progressive inability to walk (HP:0002505) | 2.19889002 |
| 68 | Cervical subluxation (HP:0003308) | 2.16173131 |
| 69 | Agitation (HP:0000713) | 2.15268893 |
| 70 | Impaired vibration sensation in the lower limbs (HP:0002166) | 2.13358390 |
| 71 | Megalencephaly (HP:0001355) | 2.12299587 |
| 72 | Urinary urgency (HP:0000012) | 2.11666734 |
| 73 | Mutism (HP:0002300) | 2.10230976 |
| 74 | Mildly elevated creatine phosphokinase (HP:0008180) | 2.09648227 |
| 75 | Increased variability in muscle fiber diameter (HP:0003557) | 2.09005274 |
| 76 | Torticollis (HP:0000473) | 2.07753601 |
| 77 | Amblyopia (HP:0000646) | 2.07577361 |
| 78 | Myotonia (HP:0002486) | 2.06720819 |
| 79 | Pheochromocytoma (HP:0002666) | 2.06501229 |
| 80 | Hyperventilation (HP:0002883) | 2.06256485 |
| 81 | Muscle fiber splitting (HP:0003555) | 2.06178823 |
| 82 | Spastic gait (HP:0002064) | 2.05940276 |
| 83 | Drooling (HP:0002307) | 2.05348478 |
| 84 | Excessive salivation (HP:0003781) | 2.05348478 |
| 85 | Aplasia involving bones of the extremities (HP:0009825) | 2.05251947 |
| 86 | Aplasia involving bones of the upper limbs (HP:0009823) | 2.05251947 |
| 87 | Aplasia of the phalanges of the hand (HP:0009802) | 2.05251947 |
| 88 | Termporal pattern (HP:0011008) | 2.05047476 |
| 89 | Insidious onset (HP:0003587) | 2.05047476 |
| 90 | Mitral valve prolapse (HP:0001634) | 2.05034298 |
| 91 | Abnormality of binocular vision (HP:0011514) | 2.04861346 |
| 92 | Diplopia (HP:0000651) | 2.04861346 |
| 93 | Abnormal EKG (HP:0003115) | 2.04626723 |
| 94 | Ankle contracture (HP:0006466) | 2.04247410 |
| 95 | Distal lower limb amyotrophy (HP:0008944) | 2.03919052 |
| 96 | Hypercortisolism (HP:0001578) | 2.02830918 |
| 97 | Lower limb muscle weakness (HP:0007340) | 2.02281324 |
| 98 | Hemiparesis (HP:0001269) | 2.00025732 |
| 99 | Postural tremor (HP:0002174) | 1.98867212 |
| 100 | Cerebral aneurysm (HP:0004944) | 1.98800120 |
| 101 | Arterial tortuosity (HP:0005116) | 1.96610739 |
| 102 | Difficulty running (HP:0009046) | 1.95423716 |
| 103 | Hypoventilation (HP:0002791) | 1.94998510 |
| 104 | Hyperacusis (HP:0010780) | 1.94459400 |
| 105 | Lower limb amyotrophy (HP:0007210) | 1.94177061 |
| 106 | Impaired smooth pursuit (HP:0007772) | 1.93186493 |
| 107 | Congenital stationary night blindness (HP:0007642) | 1.91815777 |
| 108 | Genu recurvatum (HP:0002816) | 1.91054105 |
| 109 | Neonatal short-limb short stature (HP:0008921) | 1.87317679 |
| 110 | Atrial fibrillation (HP:0005110) | 1.87110755 |
| 111 | Slender build (HP:0001533) | 1.86977777 |
| 112 | Mild short stature (HP:0003502) | 1.86483135 |
| 113 | Aortic regurgitation (HP:0001659) | 1.86189657 |
| 114 | Dysostosis multiplex (HP:0000943) | 1.85031993 |
| 115 | Interstitial pulmonary disease (HP:0006530) | 1.83706144 |
| 116 | Stereotypic behavior (HP:0000733) | 1.83684019 |
| 117 | Hypoplasia of the iris (HP:0007676) | 1.82992566 |
| 118 | Round ear (HP:0100830) | 1.82860038 |
| 119 | Lower limb asymmetry (HP:0100559) | 1.82822050 |
| 120 | Neuronal loss in central nervous system (HP:0002529) | 1.82707149 |
| 121 | Onion bulb formation (HP:0003383) | 1.82590823 |
| 122 | Vascular tortuosity (HP:0004948) | 1.81950222 |
| 123 | Distal upper limb amyotrophy (HP:0007149) | 1.81532767 |
| 124 | Upper limb amyotrophy (HP:0009129) | 1.81532767 |
| 125 | Primary atrial arrhythmia (HP:0001692) | 1.80811485 |
| 126 | Exotropia (HP:0000577) | 1.80305373 |
| 127 | Osteolytic defects of the hand bones (HP:0009699) | 1.80253850 |
| 128 | Osteolytic defects of the phalanges of the hand (HP:0009771) | 1.80253850 |
| 129 | Bronchomalacia (HP:0002780) | 1.80216739 |
| 130 | Spondylolisthesis (HP:0003302) | 1.79231779 |
| 131 | Hyperextensible skin (HP:0000974) | 1.78669523 |
| 132 | Overgrowth (HP:0001548) | 1.78532498 |
| 133 | Urinary glycosaminoglycan excretion (HP:0003541) | 1.77806583 |
| 134 | Mucopolysacchariduria (HP:0008155) | 1.77806583 |
| 135 | Hammertoe (HP:0001765) | 1.77393360 |
| 136 | Turricephaly (HP:0000262) | 1.77207625 |
| 137 | Bradykinesia (HP:0002067) | 1.76986070 |
| 138 | Resting tremor (HP:0002322) | 1.76524249 |
| 139 | Joint laxity (HP:0001388) | 1.76225946 |
| 140 | Axonal loss (HP:0003447) | 1.75268144 |
| 141 | Annular pancreas (HP:0001734) | 1.74525247 |
| 142 | Obstructive sleep apnea (HP:0002870) | 1.74307614 |
| 143 | Bradycardia (HP:0001662) | 1.72701493 |
| 144 | Emphysema (HP:0002097) | 1.72515273 |
| 145 | Mitral stenosis (HP:0001718) | 1.72514611 |
| 146 | Focal dystonia (HP:0004373) | 1.71798053 |
| 147 | Macroorchidism (HP:0000053) | 1.71699447 |
| 148 | Blue sclerae (HP:0000592) | 1.71470366 |
| 149 | Peritonitis (HP:0002586) | 1.70417344 |
| 150 | Striae distensae (HP:0001065) | 1.69532974 |
| 151 | Psychosis (HP:0000709) | 1.68271223 |
| 152 | Abnormal atrioventricular conduction (HP:0005150) | 1.67301044 |
| 153 | Abnormality of mucopolysaccharide metabolism (HP:0011020) | 1.67027930 |
| 154 | Abnormality of polysaccharide metabolism (HP:0011012) | 1.67027930 |
| 155 | Abnormality of glycosaminoglycan metabolism (HP:0004371) | 1.67027930 |
| 156 | Soft skin (HP:0000977) | 1.66385733 |
| 157 | Joint stiffness (HP:0001387) | 1.65705344 |
| 158 | Sleep apnea (HP:0010535) | 1.65074623 |
| 159 | Nuclear cataract (HP:0100018) | 1.63970953 |
| 160 | Hyperparathyroidism (HP:0000843) | 1.63571129 |
| 161 | Spinal canal stenosis (HP:0003416) | 1.63025611 |
| 162 | Follicular hyperkeratosis (HP:0007502) | 1.61453509 |
| 163 | Neoplasm of the heart (HP:0100544) | 1.60858651 |
| 164 | Short nail (HP:0001799) | 1.59517717 |
| 165 | Vertebral arch anomaly (HP:0008438) | 1.58655678 |
| 166 | Ulnar bowing (HP:0003031) | 1.56373114 |
| 167 | Thin bony cortex (HP:0002753) | 1.55743823 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | NTRK3 | 3.32888267 |
| 2 | MAP3K9 | 2.98044598 |
| 3 | EPHA4 | 2.80348909 |
| 4 | NTRK1 | 2.21508418 |
| 5 | DAPK2 | 1.99248629 |
| 6 | MAP3K2 | 1.97789909 |
| 7 | PRKD3 | 1.97704969 |
| 8 | LMTK2 | 1.93984206 |
| 9 | ERN1 | 1.90551254 |
| 10 | MAP3K4 | 1.90303773 |
| 11 | MINK1 | 1.86613650 |
| 12 | KSR2 | 1.82134607 |
| 13 | PAK6 | 1.80236941 |
| 14 | RIPK1 | 1.77934877 |
| 15 | CAMKK1 | 1.57512252 |
| 16 | PHKG2 | 1.53604744 |
| 17 | PHKG1 | 1.53604744 |
| 18 | NTRK2 | 1.50014367 |
| 19 | PRKCH | 1.49474966 |
| 20 | MAP2K4 | 1.47687766 |
| 21 | CAMK1G | 1.41385052 |
| 22 | GRK5 | 1.39464448 |
| 23 | RIPK4 | 1.34348058 |
| 24 | STK38 | 1.33024113 |
| 25 | WNK1 | 1.31967913 |
| 26 | DMPK | 1.30740853 |
| 27 | MARK1 | 1.29803985 |
| 28 | CDK5 | 1.28834099 |
| 29 | LATS2 | 1.28366023 |
| 30 | MAP3K12 | 1.26517245 |
| 31 | SIK2 | 1.25780298 |
| 32 | ICK | 1.24021889 |
| 33 | MAP2K7 | 1.22134458 |
| 34 | TGFBR2 | 1.21815898 |
| 35 | CAMKK2 | 1.19120341 |
| 36 | MAP3K13 | 1.12999144 |
| 37 | RET | 1.12304187 |
| 38 | FES | 1.12085944 |
| 39 | TRIB3 | 1.12065736 |
| 40 | FGFR4 | 1.11612763 |
| 41 | PTK2 | 1.10583828 |
| 42 | FER | 1.07136993 |
| 43 | MAP3K1 | 1.05678438 |
| 44 | PAK3 | 1.05261077 |
| 45 | TESK1 | 1.04896036 |
| 46 | MAPK7 | 1.03772495 |
| 47 | SGK494 | 1.03257903 |
| 48 | SGK223 | 1.03257903 |
| 49 | MAP3K7 | 1.01445678 |
| 50 | SGK3 | 0.98992213 |
| 51 | STK11 | 0.97411234 |
| 52 | CAMK1 | 0.96154911 |
| 53 | EEF2K | 0.94867515 |
| 54 | FGFR2 | 0.94484196 |
| 55 | SMG1 | 0.94448154 |
| 56 | MARK2 | 0.94179615 |
| 57 | PTK2B | 0.93051032 |
| 58 | CASK | 0.92057585 |
| 59 | PDPK1 | 0.89813779 |
| 60 | PRPF4B | 0.89735087 |
| 61 | SGK2 | 0.89640325 |
| 62 | OXSR1 | 0.87964061 |
| 63 | PDGFRA | 0.87789799 |
| 64 | CAMK2A | 0.85833159 |
| 65 | TAOK1 | 0.85465650 |
| 66 | CAMK2B | 0.84891010 |
| 67 | CAMK2D | 0.84575066 |
| 68 | MAP3K3 | 0.84249078 |
| 69 | ZAP70 | 0.84030472 |
| 70 | STK39 | 0.82642795 |
| 71 | WNK4 | 0.82612017 |
| 72 | PINK1 | 0.82601126 |
| 73 | INSRR | 0.81405179 |
| 74 | CDK12 | 0.81076898 |
| 75 | PRKD1 | 0.80781542 |
| 76 | UHMK1 | 0.79713529 |
| 77 | MOS | 0.79331526 |
| 78 | CDC42BPA | 0.79272155 |
| 79 | PNCK | 0.79100021 |
| 80 | CAMK1D | 0.78684258 |
| 81 | TYRO3 | 0.78552419 |
| 82 | PDK1 | 0.77934443 |
| 83 | ARAF | 0.76695210 |
| 84 | TNIK | 0.76545185 |
| 85 | PRKD2 | 0.76306964 |
| 86 | PRKCG | 0.73706263 |
| 87 | FGFR3 | 0.72794661 |
| 88 | TRPM7 | 0.72746522 |
| 89 | MAPK15 | 0.72684662 |
| 90 | PKN2 | 0.72643348 |
| 91 | MTOR | 0.71252779 |
| 92 | PRKCE | 0.70197225 |
| 93 | EPHB2 | 0.70166504 |
| 94 | AKT3 | 0.70082228 |
| 95 | PAK2 | 0.67642861 |
| 96 | MYLK | 0.67416651 |
| 97 | PLK2 | 0.67055559 |
| 98 | SGK1 | 0.66959329 |
| 99 | TNK2 | 0.66699208 |
| 100 | TTN | 0.66548111 |
| 101 | CAMK2G | 0.65872005 |
| 102 | MAPK12 | 0.62829816 |
| 103 | MAP2K1 | 0.62732899 |
| 104 | EPHB1 | 0.62221797 |
| 105 | BLK | 0.62166242 |
| 106 | TYK2 | 0.61941944 |
| 107 | TIE1 | 0.61310698 |
| 108 | ROCK2 | 0.61124090 |
| 109 | KSR1 | 0.59135485 |
| 110 | EPHA2 | 0.58862351 |
| 111 | SIK1 | 0.58268528 |
| 112 | ROCK1 | 0.57364092 |
| 113 | PTK6 | 0.56985308 |
| 114 | JAK1 | 0.56333685 |
| 115 | CDK19 | 0.56020072 |
| 116 | FYN | 0.55602232 |
| 117 | MAP2K3 | 0.54423449 |
| 118 | MAP4K1 | 0.54248953 |
| 119 | NEK6 | 0.53909178 |
| 120 | MAP3K6 | 0.52413334 |
| 121 | MAPK4 | 0.52384638 |
| 122 | CAMK4 | 0.52106531 |
| 123 | DAPK1 | 0.51719424 |
| 124 | DDR2 | 0.51571192 |
| 125 | MAP3K11 | 0.50169456 |
| 126 | RPS6KA3 | 0.49212359 |
| 127 | RPS6KL1 | 0.48590232 |
| 128 | RPS6KC1 | 0.48590232 |
| 129 | MAPK10 | 0.48551411 |
| 130 | ALK | 0.48427744 |
| 131 | CSNK1G2 | 0.47975606 |
| 132 | RPS6KA2 | 0.47964754 |
| 133 | PDGFRB | 0.47172008 |
| 134 | CSK | 0.46214725 |
| 135 | MAPK13 | 0.45618290 |
| 136 | PRKG2 | 0.45215280 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 2.39210013 |
| 2 | Nicotine addiction_Homo sapiens_hsa05033 | 2.30027409 |
| 3 | Circadian entrainment_Homo sapiens_hsa04713 | 2.12099372 |
| 4 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 2.07335201 |
| 5 | GABAergic synapse_Homo sapiens_hsa04727 | 2.07236236 |
| 6 | Olfactory transduction_Homo sapiens_hsa04740 | 2.04633853 |
| 7 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 2.02409457 |
| 8 | Long-term potentiation_Homo sapiens_hsa04720 | 1.99931041 |
| 9 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.96675986 |
| 10 | Salivary secretion_Homo sapiens_hsa04970 | 1.96376942 |
| 11 | Morphine addiction_Homo sapiens_hsa05032 | 1.90417673 |
| 12 | Insulin secretion_Homo sapiens_hsa04911 | 1.88627243 |
| 13 | Gastric acid secretion_Homo sapiens_hsa04971 | 1.87099525 |
| 14 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.79583360 |
| 15 | Renin secretion_Homo sapiens_hsa04924 | 1.77734311 |
| 16 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 1.75227744 |
| 17 | Cholinergic synapse_Homo sapiens_hsa04725 | 1.67969755 |
| 18 | Dopaminergic synapse_Homo sapiens_hsa04728 | 1.67787330 |
| 19 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 1.58159548 |
| 20 | Phototransduction_Homo sapiens_hsa04744 | 1.52067871 |
| 21 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.51881407 |
| 22 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 1.46858876 |
| 23 | Taste transduction_Homo sapiens_hsa04742 | 1.45261965 |
| 24 | Long-term depression_Homo sapiens_hsa04730 | 1.41553107 |
| 25 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 1.39645639 |
| 26 | Cocaine addiction_Homo sapiens_hsa05030 | 1.38125850 |
| 27 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.37452092 |
| 28 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.34439457 |
| 29 | GnRH signaling pathway_Homo sapiens_hsa04912 | 1.32436602 |
| 30 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.28016546 |
| 31 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 1.25454720 |
| 32 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.22326692 |
| 33 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.22014645 |
| 34 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 1.21546378 |
| 35 | cAMP signaling pathway_Homo sapiens_hsa04024 | 1.21257133 |
| 36 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 1.20056682 |
| 37 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 1.18823658 |
| 38 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 1.16097094 |
| 39 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 1.13687552 |
| 40 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 1.12898462 |
| 41 | Gap junction_Homo sapiens_hsa04540 | 1.11645111 |
| 42 | Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750 | 1.11453611 |
| 43 | Pancreatic secretion_Homo sapiens_hsa04972 | 1.08215048 |
| 44 | Notch signaling pathway_Homo sapiens_hsa04330 | 1.08052425 |
| 45 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.05674359 |
| 46 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.96924381 |
| 47 | Melanogenesis_Homo sapiens_hsa04916 | 0.93962839 |
| 48 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.91828483 |
| 49 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.91710547 |
| 50 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.91520250 |
| 51 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.91517035 |
| 52 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 0.91325430 |
| 53 | Glioma_Homo sapiens_hsa05214 | 0.90885380 |
| 54 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.90143408 |
| 55 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 0.89834799 |
| 56 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.89571349 |
| 57 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 0.89077489 |
| 58 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.87616558 |
| 59 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.87076276 |
| 60 | Axon guidance_Homo sapiens_hsa04360 | 0.85509866 |
| 61 | Osteoclast differentiation_Homo sapiens_hsa04380 | 0.84287027 |
| 62 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.83104509 |
| 63 | Other glycan degradation_Homo sapiens_hsa00511 | 0.81379817 |
| 64 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.80196901 |
| 65 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 0.79602193 |
| 66 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.78339313 |
| 67 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.75908762 |
| 68 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.75857553 |
| 69 | Adherens junction_Homo sapiens_hsa04520 | 0.75591377 |
| 70 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.74669692 |
| 71 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.72925337 |
| 72 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.70562403 |
| 73 | Chagas disease (American trypanosomiasis)_Homo sapiens_hsa05142 | 0.69644677 |
| 74 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.69014189 |
| 75 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.68236572 |
| 76 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.67261036 |
| 77 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.66922132 |
| 78 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.66860861 |
| 79 | Bile secretion_Homo sapiens_hsa04976 | 0.66805355 |
| 80 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.65887478 |
| 81 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.65222783 |
| 82 | Fc epsilon RI signaling pathway_Homo sapiens_hsa04664 | 0.64873928 |
| 83 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.64353313 |
| 84 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.64304187 |
| 85 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.62890442 |
| 86 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.62610284 |
| 87 | Endocytosis_Homo sapiens_hsa04144 | 0.60376123 |
| 88 | Circadian rhythm_Homo sapiens_hsa04710 | 0.57703129 |
| 89 | Ras signaling pathway_Homo sapiens_hsa04014 | 0.57569902 |
| 90 | Renal cell carcinoma_Homo sapiens_hsa05211 | 0.57282178 |
| 91 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 0.57133485 |
| 92 | FoxO signaling pathway_Homo sapiens_hsa04068 | 0.56773391 |
| 93 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.55889298 |
| 94 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.54911423 |
| 95 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.53957301 |
| 96 | Platelet activation_Homo sapiens_hsa04611 | 0.52903172 |
| 97 | Focal adhesion_Homo sapiens_hsa04510 | 0.52601691 |
| 98 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.52463153 |
| 99 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.51387991 |
| 100 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.50108675 |
| 101 | Amoebiasis_Homo sapiens_hsa05146 | 0.47708640 |
| 102 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.46898802 |
| 103 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.46292906 |
| 104 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.45909921 |
| 105 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 0.44730672 |
| 106 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 0.44465709 |
| 107 | Insulin resistance_Homo sapiens_hsa04931 | 0.43408628 |
| 108 | Chemokine signaling pathway_Homo sapiens_hsa04062 | 0.42533118 |
| 109 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.40736273 |
| 110 | African trypanosomiasis_Homo sapiens_hsa05143 | 0.40488535 |
| 111 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.39682607 |
| 112 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 0.38468143 |
| 113 | Endometrial cancer_Homo sapiens_hsa05213 | 0.38346353 |
| 114 | Prion diseases_Homo sapiens_hsa05020 | 0.36608493 |
| 115 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.35102465 |
| 116 | Mineral absorption_Homo sapiens_hsa04978 | 0.33841991 |
| 117 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.33683752 |
| 118 | Tight junction_Homo sapiens_hsa04530 | 0.33335364 |
| 119 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.33241484 |

