

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | synaptic vesicle exocytosis (GO:0016079) | 5.62910398 |
| 2 | regulation of short-term neuronal synaptic plasticity (GO:0048172) | 5.15459492 |
| 3 | positive regulation of excitatory postsynaptic membrane potential (GO:2000463) | 4.74265257 |
| 4 | regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310) | 4.72189846 |
| 5 | regulation of synaptic vesicle exocytosis (GO:2000300) | 4.62989510 |
| 6 | positive regulation of calcium ion-dependent exocytosis (GO:0045956) | 4.60407652 |
| 7 | glutamate secretion (GO:0014047) | 4.44782867 |
| 8 | protein localization to synapse (GO:0035418) | 4.38691664 |
| 9 | sodium ion export (GO:0071436) | 4.36191880 |
| 10 | vocalization behavior (GO:0071625) | 4.28973736 |
| 11 | synaptic vesicle docking involved in exocytosis (GO:0016081) | 4.26796376 |
| 12 | regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act | 4.25936970 |
| 13 | regulation of synaptic vesicle transport (GO:1902803) | 4.25230287 |
| 14 | positive regulation of synapse maturation (GO:0090129) | 4.23011411 |
| 15 | neuronal ion channel clustering (GO:0045161) | 4.20643391 |
| 16 | regulation of glutamate receptor signaling pathway (GO:1900449) | 4.18853644 |
| 17 | glutamate receptor signaling pathway (GO:0007215) | 4.16103398 |
| 18 | neurotransmitter-gated ion channel clustering (GO:0072578) | 4.15500210 |
| 19 | ionotropic glutamate receptor signaling pathway (GO:0035235) | 4.14279263 |
| 20 | synaptic vesicle maturation (GO:0016188) | 4.13439249 |
| 21 | synaptic transmission, glutamatergic (GO:0035249) | 4.04859144 |
| 22 | cerebellar granule cell differentiation (GO:0021707) | 4.03251295 |
| 23 | central nervous system myelination (GO:0022010) | 3.98966159 |
| 24 | axon ensheathment in central nervous system (GO:0032291) | 3.98966159 |
| 25 | regulation of ARF protein signal transduction (GO:0032012) | 3.97968082 |
| 26 | neuron-neuron synaptic transmission (GO:0007270) | 3.97027486 |
| 27 | gamma-aminobutyric acid signaling pathway (GO:0007214) | 3.94317624 |
| 28 | G-protein coupled glutamate receptor signaling pathway (GO:0007216) | 3.93536754 |
| 29 | membrane depolarization during cardiac muscle cell action potential (GO:0086012) | 3.87030704 |
| 30 | transferrin transport (GO:0033572) | 3.83217348 |
| 31 | L-amino acid import (GO:0043092) | 3.82044278 |
| 32 | synaptic vesicle endocytosis (GO:0048488) | 3.78638162 |
| 33 | neuronal action potential propagation (GO:0019227) | 3.72402042 |
| 34 | neuron cell-cell adhesion (GO:0007158) | 3.66045093 |
| 35 | neurotransmitter secretion (GO:0007269) | 3.62882740 |
| 36 | regulation of synapse maturation (GO:0090128) | 3.62072753 |
| 37 | positive regulation of membrane potential (GO:0045838) | 3.61428989 |
| 38 | regulation of inhibitory postsynaptic membrane potential (GO:0060080) | 3.60235511 |
| 39 | regulation of vesicle fusion (GO:0031338) | 3.58052119 |
| 40 | ATP hydrolysis coupled proton transport (GO:0015991) | 3.57298854 |
| 41 | energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988) | 3.57298854 |
| 42 | long-term memory (GO:0007616) | 3.56350251 |
| 43 | trivalent inorganic cation transport (GO:0072512) | 3.51300494 |
| 44 | ferric iron transport (GO:0015682) | 3.51300494 |
| 45 | negative regulation of synaptic transmission, GABAergic (GO:0032229) | 3.50306653 |
| 46 | regulation of neuronal synaptic plasticity (GO:0048168) | 3.50075310 |
| 47 | long-term synaptic potentiation (GO:0060291) | 3.48708444 |
| 48 | locomotory exploration behavior (GO:0035641) | 3.46704001 |
| 49 | neuromuscular process controlling posture (GO:0050884) | 3.41834976 |
| 50 | potassium ion homeostasis (GO:0055075) | 3.41326196 |
| 51 | regulation of excitatory postsynaptic membrane potential (GO:0060079) | 3.39923597 |
| 52 | establishment of mitochondrion localization (GO:0051654) | 3.39126968 |
| 53 | response to histamine (GO:0034776) | 3.38579679 |
| 54 | regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371) | 3.37695130 |
| 55 | regulation of synapse structural plasticity (GO:0051823) | 3.32548304 |
| 56 | regulation of neurotransmitter levels (GO:0001505) | 3.29808832 |
| 57 | behavioral defense response (GO:0002209) | 3.29041197 |
| 58 | behavioral fear response (GO:0001662) | 3.29041197 |
| 59 | regulation of postsynaptic membrane potential (GO:0060078) | 3.27472011 |
| 60 | regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307) | 3.27150656 |
| 61 | regulation of neurotransmitter secretion (GO:0046928) | 3.26445662 |
| 62 | amino acid import (GO:0043090) | 3.25744296 |
| 63 | serotonin metabolic process (GO:0042428) | 3.25702927 |
| 64 | positive regulation of neurotransmitter transport (GO:0051590) | 3.21374638 |
| 65 | exploration behavior (GO:0035640) | 3.20840886 |
| 66 | positive regulation of synaptic transmission, dopaminergic (GO:0032226) | 3.20209302 |
| 67 | membrane depolarization during action potential (GO:0086010) | 3.18974430 |
| 68 | negative regulation of amyloid precursor protein catabolic process (GO:1902992) | 3.18795936 |
| 69 | neuromuscular process controlling balance (GO:0050885) | 3.18771707 |
| 70 | regulation of long-term neuronal synaptic plasticity (GO:0048169) | 3.18763738 |
| 71 | regulation of synaptic plasticity (GO:0048167) | 3.15622956 |
| 72 | neurotransmitter transport (GO:0006836) | 3.15394802 |
| 73 | establishment of synaptic vesicle localization (GO:0097480) | 3.14969079 |
| 74 | synaptic vesicle transport (GO:0048489) | 3.14969079 |
| 75 | detection of calcium ion (GO:0005513) | 3.14587635 |
| 76 | layer formation in cerebral cortex (GO:0021819) | 3.13801199 |
| 77 | regulation of synaptic transmission, glutamatergic (GO:0051966) | 3.13550528 |
| 78 | fear response (GO:0042596) | 3.13339494 |
| 79 | regulation of glutamate secretion (GO:0014048) | 3.12518314 |
| 80 | phagosome maturation (GO:0090382) | 3.11357487 |
| 81 | adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191) | 3.10480383 |
| 82 | cellular potassium ion homeostasis (GO:0030007) | 3.09920066 |
| 83 | establishment of mitochondrion localization, microtubule-mediated (GO:0034643) | 3.07135364 |
| 84 | mitochondrion transport along microtubule (GO:0047497) | 3.07135364 |
| 85 | positive regulation of dendritic spine development (GO:0060999) | 3.05678698 |
| 86 | G-protein coupled acetylcholine receptor signaling pathway (GO:0007213) | 3.05385860 |
| 87 | activation of protein kinase A activity (GO:0034199) | 3.05248528 |
| 88 | peptidyl-tyrosine autophosphorylation (GO:0038083) | 3.01539364 |
| 89 | positive regulation of synaptic transmission, GABAergic (GO:0032230) | 3.00391022 |
| 90 | presynaptic membrane assembly (GO:0097105) | 3.00317313 |
| 91 | cell communication by electrical coupling involved in cardiac conduction (GO:0086064) | 2.99385383 |
| 92 | protein localization to cilium (GO:0061512) | 2.98673828 |
| 93 | membrane depolarization (GO:0051899) | 2.98138390 |
| 94 | regulation of neurotransmitter transport (GO:0051588) | 2.98137152 |
| 95 | synaptic transmission (GO:0007268) | 2.95935677 |
| 96 | synaptic transmission, dopaminergic (GO:0001963) | 2.95138608 |
| 97 | behavioral response to cocaine (GO:0048148) | 2.94412245 |
| 98 | response to pheromone (GO:0019236) | 2.93954721 |
| 99 | positive regulation of neurotransmitter secretion (GO:0001956) | 2.93910495 |
| 100 | dopamine receptor signaling pathway (GO:0007212) | 2.92953687 |
| 101 | potassium ion import (GO:0010107) | 2.92471099 |
| 102 | postsynaptic membrane organization (GO:0001941) | 2.90108329 |
| 103 | membrane hyperpolarization (GO:0060081) | 2.87944646 |
| 104 | urinary tract smooth muscle contraction (GO:0014848) | 2.87854151 |
| 105 | regulation of dopamine metabolic process (GO:0042053) | 2.86132921 |
| 106 | regulation of catecholamine metabolic process (GO:0042069) | 2.86132921 |
| 107 | regulation of voltage-gated calcium channel activity (GO:1901385) | 2.85944750 |
| 108 | primary amino compound metabolic process (GO:1901160) | 2.84098677 |
| 109 | presynaptic membrane organization (GO:0097090) | 2.83821426 |
| 110 | dendritic spine morphogenesis (GO:0060997) | 2.82823897 |
| 111 | establishment of vesicle localization (GO:0051650) | 2.82165985 |
| 112 | innervation (GO:0060384) | 2.80992262 |
| 113 | startle response (GO:0001964) | 2.80719392 |
| 114 | cerebellar Purkinje cell differentiation (GO:0021702) | 2.80546066 |
| 115 | negative regulation of cytosolic calcium ion concentration (GO:0051481) | 2.80355981 |
| 116 | cerebellar Purkinje cell layer development (GO:0021680) | 2.80258537 |
| 117 | regulation of dopamine uptake involved in synaptic transmission (GO:0051584) | 2.78101748 |
| 118 | regulation of catecholamine uptake involved in synaptic transmission (GO:0051940) | 2.78101748 |
| 119 | negative regulation of synaptic transmission, glutamatergic (GO:0051967) | 2.77712231 |
| 120 | detection of light stimulus involved in sensory perception (GO:0050962) | 2.77668339 |
| 121 | detection of light stimulus involved in visual perception (GO:0050908) | 2.77668339 |
| 122 | regulation of exocytosis (GO:0017157) | 2.76917028 |
| 123 | dendritic spine organization (GO:0097061) | 2.76712035 |
| 124 | cell communication by electrical coupling (GO:0010644) | 2.75943660 |
| 125 | regulation of synaptic transmission (GO:0050804) | 2.75313648 |
| 126 | learning (GO:0007612) | 2.74757085 |
| 127 | positive regulation of dendritic spine morphogenesis (GO:0061003) | 2.74258846 |
| 128 | positive regulation of synaptic transmission (GO:0050806) | 2.74189577 |
| 129 | cell migration in hindbrain (GO:0021535) | 2.70087023 |
| 130 | cytoskeletal anchoring at plasma membrane (GO:0007016) | 2.68733822 |
| 131 | cell-cell junction maintenance (GO:0045217) | 2.65066342 |
| 132 | cellular sodium ion homeostasis (GO:0006883) | 2.65002813 |
| 133 | cell communication involved in cardiac conduction (GO:0086065) | 2.63322797 |
| 134 | detection of temperature stimulus involved in sensory perception (GO:0050961) | 2.55365860 |
| 135 | detection of temperature stimulus involved in sensory perception of pain (GO:0050965) | 2.55365860 |
| 136 | cell differentiation in hindbrain (GO:0021533) | 2.54795705 |
| 137 | positive regulation of Rap GTPase activity (GO:0032854) | 2.53691628 |
| 138 | positive regulation of exocytosis (GO:0045921) | 2.52195434 |
| 139 | acidic amino acid transport (GO:0015800) | 2.52086637 |
| 140 | gamma-aminobutyric acid transport (GO:0015812) | 2.50508434 |
| 141 | cellular response to monoamine stimulus (GO:0071868) | 2.47109655 |
| 142 | cellular response to catecholamine stimulus (GO:0071870) | 2.47109655 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 5.54827798 |
| 2 | GBX2_23144817_ChIP-Seq_PC3_Human | 4.01362548 |
| 3 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 3.76617676 |
| 4 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 3.43394111 |
| 5 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 3.32064921 |
| 6 | REST_21632747_ChIP-Seq_MESCs_Mouse | 3.05929574 |
| 7 | SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 2.84850591 |
| 8 | IKZF1_21737484_ChIP-ChIP_HCT116_Human | 2.79853962 |
| 9 | * LXR_22292898_ChIP-Seq_THP-1_Human | 2.69688998 |
| 10 | REST_18959480_ChIP-ChIP_MESCs_Mouse | 2.68697912 |
| 11 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 2.55745235 |
| 12 | SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 2.50943368 |
| 13 | SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 2.40497286 |
| 14 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 2.39953476 |
| 15 | RARB_27405468_Chip-Seq_BRAIN_Mouse | 2.35491226 |
| 16 | SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 2.35148979 |
| 17 | DROSHA_22980978_ChIP-Seq_HELA_Human | 2.28433506 |
| 18 | CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons | 2.25630390 |
| 19 | SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 2.21651098 |
| 20 | KDM2B_26808549_Chip-Seq_K562_Human | 2.17385654 |
| 21 | * KDM2B_26808549_Chip-Seq_SUP-B15_Human | 2.16448702 |
| 22 | MTF2_20144788_ChIP-Seq_MESCs_Mouse | 2.16311730 |
| 23 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 2.15577264 |
| 24 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 2.14349053 |
| 25 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.10474242 |
| 26 | * EZH2_27294783_Chip-Seq_ESCs_Mouse | 2.07160881 |
| 27 | ZFP281_18757296_ChIP-ChIP_E14_Mouse | 2.07117894 |
| 28 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 2.06805567 |
| 29 | EZH2_18974828_ChIP-Seq_MESCs_Mouse | 2.04142303 |
| 30 | RNF2_18974828_ChIP-Seq_MESCs_Mouse | 2.04142303 |
| 31 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 1.98366418 |
| 32 | SUZ12_18692474_ChIP-Seq_MEFs_Mouse | 1.98245077 |
| 33 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.97167458 |
| 34 | * EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human | 1.96062109 |
| 35 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.94416625 |
| 36 | P68_20966046_ChIP-Seq_HELA_Human | 1.92475840 |
| 37 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.89302319 |
| 38 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.88455324 |
| 39 | SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 1.87412054 |
| 40 | VDR_22108803_ChIP-Seq_LS180_Human | 1.87086434 |
| 41 | RNF2_27304074_Chip-Seq_ESCs_Mouse | 1.85936340 |
| 42 | KDM2B_26808549_Chip-Seq_DND41_Human | 1.81880943 |
| 43 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.79543406 |
| 44 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.75942578 |
| 45 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 1.75772552 |
| 46 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.72349371 |
| 47 | TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 1.69393636 |
| 48 | SRY_22984422_ChIP-ChIP_TESTIS_Rat | 1.69333600 |
| 49 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.67475008 |
| 50 | * VDR_21846776_ChIP-Seq_THP-1_Human | 1.67292916 |
| 51 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.66592816 |
| 52 | SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 1.64619079 |
| 53 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.61689353 |
| 54 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 1.59129306 |
| 55 | VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human | 1.56316107 |
| 56 | * RACK7_27058665_Chip-Seq_MCF-7_Human | 1.55221165 |
| 57 | P300_19829295_ChIP-Seq_ESCs_Human | 1.53903267 |
| 58 | KDM2B_26808549_Chip-Seq_SIL-ALL_Human | 1.52193978 |
| 59 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 1.48906985 |
| 60 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.48320801 |
| 61 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.43959497 |
| 62 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.43583986 |
| 63 | GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.43564352 |
| 64 | * CREB1_26743006_Chip-Seq_LNCaP_Human | 1.42741966 |
| 65 | OCT4_19829295_ChIP-Seq_ESCs_Human | 1.42101993 |
| 66 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.39989975 |
| 67 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.38952233 |
| 68 | TET1_21490601_ChIP-Seq_MESCs_Mouse | 1.38641473 |
| 69 | CTCF_27219007_Chip-Seq_ERYTHROID_Human | 1.38325461 |
| 70 | RCOR3_21632747_ChIP-Seq_MESCs_Mouse | 1.36113791 |
| 71 | * PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 1.35985463 |
| 72 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.34635464 |
| 73 | GATA1_19941827_ChIP-Seq_MEL_Mouse | 1.34441873 |
| 74 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 1.33955940 |
| 75 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.33834473 |
| 76 | TCF7_22412390_ChIP-Seq_EML_Mouse | 1.33824231 |
| 77 | AR_25329375_ChIP-Seq_VCAP_Human | 1.33508220 |
| 78 | P53_22127205_ChIP-Seq_FIBROBLAST_Human | 1.31813479 |
| 79 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 1.30527916 |
| 80 | SA1_27219007_Chip-Seq_Bcells_Human | 1.30134940 |
| 81 | RCOR2_21632747_ChIP-Seq_MESCs_Mouse | 1.27999300 |
| 82 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.25236243 |
| 83 | CREB1_26743006_Chip-Seq_LNCaP-abl_Human | 1.24675917 |
| 84 | KDM2B_26808549_Chip-Seq_JURKAT_Human | 1.24622031 |
| 85 | MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human | 1.22236760 |
| 86 | UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 1.21982074 |
| 87 | ZFP281_18358816_ChIP-ChIP_MESCs_Mouse | 1.21720630 |
| 88 | NR3C1_23031785_ChIP-Seq_PC12_Mouse | 1.21542431 |
| 89 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.20432598 |
| 90 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.20298622 |
| 91 | ZFP281_27345836_Chip-Seq_ESCs_Mouse | 1.19439235 |
| 92 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.18535935 |
| 93 | PHC1_16625203_ChIP-ChIP_MESCs_Mouse | 1.18439430 |
| 94 | OLIG2_26023283_ChIP-Seq_AINV15_Mouse | 1.18329303 |
| 95 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.16510214 |
| 96 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.16096313 |
| 97 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 1.15980987 |
| 98 | ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 1.13858013 |
| 99 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.13747813 |
| 100 | STAT3_23295773_ChIP-Seq_U87_Human | 1.13560850 |
| 101 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.13517565 |
| 102 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.13269081 |
| 103 | SMAD3_22036565_ChIP-Seq_ESCs_Mouse | 1.13156778 |
| 104 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.11076943 |
| 105 | EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.10910862 |
| 106 | ELK3_25401928_ChIP-Seq_HUVEC_Human | 1.10728184 |
| 107 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.10177372 |
| 108 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.09987632 |
| 109 | SOX2_21211035_ChIP-Seq_LN229_Gbm | 1.09771363 |
| 110 | NR0B1_18358816_ChIP-ChIP_MESCs_Mouse | 1.09579938 |
| 111 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.07774814 |
| 112 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.07217234 |
| 113 | E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human | 1.06672895 |
| 114 | TCF4_23295773_ChIP-Seq_U87_Human | 1.06510442 |
| 115 | SETDB1_19884255_ChIP-Seq_MESCs_Mouse | 1.05882055 |
| 116 | WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 1.05650064 |
| 117 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.04923822 |
| 118 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.04059551 |
| 119 | CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse | 1.03954181 |
| 120 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 1.01744408 |
| 121 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 1.00585280 |
| 122 | FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse | 0.99743779 |
| 123 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 0.98863685 |
| 124 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 0.98817025 |
| 125 | AR_19668381_ChIP-Seq_PC3_Human | 0.98816736 |
| 126 | KLF4_19829295_ChIP-Seq_ESCs_Human | 0.98148028 |
| 127 | ZNF274_21170338_ChIP-Seq_K562_Hela | 0.97473457 |
| 128 | ERG_21242973_ChIP-ChIP_JURKAT_Human | 0.97410323 |
| 129 | * DNAJC2_21179169_ChIP-ChIP_NT2_Human | 0.97005911 |
| 130 | CTCF_21964334_ChIP-Seq_BJAB-B_Human | 0.95805236 |
| 131 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 0.95794515 |
| 132 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 0.94996103 |
| 133 | TFAP2A_17053090_ChIP-ChIP_MCF-7_Human | 0.94549875 |
| 134 | VDR_24763502_ChIP-Seq_THP-1_Human | 0.93626520 |
| 135 | ER_23166858_ChIP-Seq_MCF-7_Human | 0.93611453 |
| 136 | PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse | 0.93529591 |
| 137 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 0.92733969 |
| 138 | RUNX1_20887958_ChIP-Seq_HPC-7_Mouse | 0.92531089 |
| 139 | JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse | 0.92475866 |
| 140 | RUNX2_22187159_ChIP-Seq_PCA_Human | 0.92075113 |
| 141 | SOX2_18555785_Chip-Seq_ESCs_Mouse | 0.92047956 |
| 142 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 0.91291364 |
| 143 | SMAD3_21741376_ChIP-Seq_HESCs_Human | 0.91227488 |
| 144 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 0.91084936 |
| 145 | SIN3A_21632747_ChIP-Seq_MESCs_Mouse | 0.90685985 |
| 146 | JUN_21703547_ChIP-Seq_K562_Human | 0.89152640 |
| 147 | P53_22387025_ChIP-Seq_ESCs_Mouse | 0.88867813 |
| 148 | SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 0.87351401 |
| 149 | RING1B_27294783_Chip-Seq_ESCs_Mouse | 0.87056632 |
| 150 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 0.86428213 |
| 151 | TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse | 0.86119022 |
| 152 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 0.86057176 |
| 153 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 0.85814890 |
| 154 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 0.85437373 |
| 155 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 0.85257457 |
| 156 | RUNX1_27457419_Chip-Seq_LIVER_Mouse | 0.85054490 |
| 157 | OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 0.85051205 |
| 158 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 0.84665219 |
| 159 | AHR_22903824_ChIP-Seq_MCF-7_Human | 0.84450699 |
| 160 | E2F1_18555785_Chip-Seq_ESCs_Mouse | 0.84416104 |
| 161 | SOX9_26525672_Chip-Seq_HEART_Mouse | 0.84122685 |
| 162 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 0.84027239 |
| 163 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.82940746 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0004859_abnormal_synaptic_plasticity | 5.22022807 |
| 2 | MP0003880_abnormal_central_pattern | 4.71192637 |
| 3 | MP0003635_abnormal_synaptic_transmissio | 3.54158212 |
| 4 | MP0009745_abnormal_behavioral_response | 3.08247858 |
| 5 | MP0002064_seizures | 2.94985691 |
| 6 | MP0002063_abnormal_learning/memory/cond | 2.92688478 |
| 7 | MP0009046_muscle_twitch | 2.84543781 |
| 8 | MP0001968_abnormal_touch/_nociception | 2.82870899 |
| 9 | MP0004270_analgesia | 2.77880817 |
| 10 | MP0002876_abnormal_thyroid_physiology | 2.76638606 |
| 11 | MP0002572_abnormal_emotion/affect_behav | 2.59505901 |
| 12 | MP0002736_abnormal_nociception_after | 2.57208178 |
| 13 | MP0002272_abnormal_nervous_system | 2.54544233 |
| 14 | MP0003787_abnormal_imprinting | 2.44265336 |
| 15 | MP0002735_abnormal_chemical_nociception | 2.38113784 |
| 16 | MP0002822_catalepsy | 2.29768950 |
| 17 | MP0001984_abnormal_olfaction | 2.29421351 |
| 18 | MP0002734_abnormal_mechanical_nocicepti | 2.24328140 |
| 19 | MP0001501_abnormal_sleep_pattern | 2.23211641 |
| 20 | MP0003879_abnormal_hair_cell | 2.16124029 |
| 21 | MP0005551_abnormal_eye_electrophysiolog | 2.11410950 |
| 22 | MP0001440_abnormal_grooming_behavior | 2.05222082 |
| 23 | MP0005645_abnormal_hypothalamus_physiol | 2.04160494 |
| 24 | MP0010386_abnormal_urinary_bladder | 2.03496413 |
| 25 | MP0003183_abnormal_peptide_metabolism | 2.01758549 |
| 26 | MP0005423_abnormal_somatic_nervous | 2.00326529 |
| 27 | MP0001486_abnormal_startle_reflex | 1.98457476 |
| 28 | MP0006276_abnormal_autonomic_nervous | 1.97195317 |
| 29 | MP0003690_abnormal_glial_cell | 1.95522840 |
| 30 | MP0001502_abnormal_circadian_rhythm | 1.91154534 |
| 31 | MP0003123_paternal_imprinting | 1.88956751 |
| 32 | MP0002163_abnormal_gland_morphology | 1.87762994 |
| 33 | MP0005646_abnormal_pituitary_gland | 1.87497287 |
| 34 | MP0002067_abnormal_sensory_capabilities | 1.87144628 |
| 35 | MP0001970_abnormal_pain_threshold | 1.74921176 |
| 36 | MP0003122_maternal_imprinting | 1.74498155 |
| 37 | MP0000920_abnormal_myelination | 1.71011784 |
| 38 | MP0001346_abnormal_lacrimal_gland | 1.70721936 |
| 39 | MP0002184_abnormal_innervation | 1.65632211 |
| 40 | MP0002733_abnormal_thermal_nociception | 1.60922613 |
| 41 | MP0001188_hyperpigmentation | 1.60465230 |
| 42 | MP0001905_abnormal_dopamine_level | 1.56545967 |
| 43 | MP0001529_abnormal_vocalization | 1.55848370 |
| 44 | MP0006072_abnormal_retinal_apoptosis | 1.52934438 |
| 45 | MP0002909_abnormal_adrenal_gland | 1.51084271 |
| 46 | MP0004142_abnormal_muscle_tone | 1.48744863 |
| 47 | MP0005310_abnormal_salivary_gland | 1.43021392 |
| 48 | MP0002638_abnormal_pupillary_reflex | 1.42337664 |
| 49 | MP0002557_abnormal_social/conspecific_i | 1.42087586 |
| 50 | MP0008877_abnormal_DNA_methylation | 1.41369174 |
| 51 | MP0008569_lethality_at_weaning | 1.39757574 |
| 52 | MP0003075_altered_response_to | 1.39747175 |
| 53 | MP0005379_endocrine/exocrine_gland_phen | 1.38203701 |
| 54 | MP0004510_myositis | 1.36158833 |
| 55 | MP0006292_abnormal_olfactory_placode | 1.34692677 |
| 56 | MP0004130_abnormal_muscle_cell | 1.32136646 |
| 57 | MP0004924_abnormal_behavior | 1.31604156 |
| 58 | MP0005386_behavior/neurological_phenoty | 1.31604156 |
| 59 | MP0005058_abnormal_lysosome_morphology | 1.31007367 |
| 60 | MP0000604_amyloidosis | 1.25916874 |
| 61 | MP0004811_abnormal_neuron_physiology | 1.25641339 |
| 62 | MP0003329_amyloid_beta_deposits | 1.24618707 |
| 63 | MP0002882_abnormal_neuron_morphology | 1.22766686 |
| 64 | MP0002066_abnormal_motor_capabilities/c | 1.22110823 |
| 65 | MP0000778_abnormal_nervous_system | 1.18986442 |
| 66 | MP0004043_abnormal_pH_regulation | 1.17665870 |
| 67 | MP0002229_neurodegeneration | 1.17655793 |
| 68 | MP0009780_abnormal_chondrocyte_physiolo | 1.14464046 |
| 69 | MP0002090_abnormal_vision | 1.14364408 |
| 70 | MP0001348_abnormal_lacrimal_gland | 1.13086467 |
| 71 | MP0000955_abnormal_spinal_cord | 1.12090220 |
| 72 | MP0008872_abnormal_physiological_respon | 1.06762645 |
| 73 | MP0005253_abnormal_eye_physiology | 1.05669560 |
| 74 | MP0008260_abnormal_autophagy | 1.05619889 |
| 75 | MP0004858_abnormal_nervous_system | 1.04196907 |
| 76 | MP0000751_myopathy | 1.03485179 |
| 77 | MP0003303_peritoneal_inflammation | 1.01101149 |
| 78 | MP0002837_dystrophic_cardiac_calcinosis | 0.99796473 |
| 79 | MP0004147_increased_porphyrin_level | 0.98910163 |
| 80 | MP0005535_abnormal_body_temperature | 0.98167568 |
| 81 | MP0000747_muscle_weakness | 0.96010089 |
| 82 | MP0001986_abnormal_taste_sensitivity | 0.94889897 |
| 83 | MP0002069_abnormal_eating/drinking_beha | 0.94829737 |
| 84 | MP0003633_abnormal_nervous_system | 0.93918456 |
| 85 | MP0001765_abnormal_ion_homeostasis | 0.93161574 |
| 86 | MP0005409_darkened_coat_color | 0.92864950 |
| 87 | MP0005083_abnormal_biliary_tract | 0.92574789 |
| 88 | MP0003191_abnormal_cellular_cholesterol | 0.92183617 |
| 89 | MP0002138_abnormal_hepatobiliary_system | 0.90093123 |
| 90 | MP0009278_abnormal_bone_marrow | 0.88031490 |
| 91 | MP0001963_abnormal_hearing_physiology | 0.87642128 |
| 92 | MP0003632_abnormal_nervous_system | 0.86230150 |
| 93 | MP0000013_abnormal_adipose_tissue | 0.83924137 |
| 94 | MP0003631_nervous_system_phenotype | 0.83362250 |
| 95 | MP0005394_taste/olfaction_phenotype | 0.82223602 |
| 96 | MP0005499_abnormal_olfactory_system | 0.82223602 |
| 97 | MP0002752_abnormal_somatic_nervous | 0.80868044 |
| 98 | MP0003137_abnormal_impulse_conducting | 0.80741597 |
| 99 | MP0005167_abnormal_blood-brain_barrier | 0.77097089 |
| 100 | MP0003878_abnormal_ear_physiology | 0.76460140 |
| 101 | MP0005377_hearing/vestibular/ear_phenot | 0.76460140 |
| 102 | MP0005166_decreased_susceptibility_to | 0.74437459 |
| 103 | MP0000631_abnormal_neuroendocrine_gland | 0.73892122 |
| 104 | MP0002152_abnormal_brain_morphology | 0.73606321 |
| 105 | MP0001485_abnormal_pinna_reflex | 0.70908821 |
| 106 | MP0009840_abnormal_foam_cell | 0.70783930 |
| 107 | MP0002693_abnormal_pancreas_physiology | 0.69892203 |
| 108 | MP0005084_abnormal_gallbladder_morpholo | 0.68457091 |
| 109 | MP0004885_abnormal_endolymph | 0.68293778 |
| 110 | MP0008874_decreased_physiological_sensi | 0.68139859 |
| 111 | MP0006035_abnormal_mitochondrial_morpho | 0.67457672 |
| 112 | MP0004742_abnormal_vestibular_system | 0.66473160 |
| 113 | MP0003172_abnormal_lysosome_physiology | 0.66441724 |
| 114 | MP0004145_abnormal_muscle_electrophysio | 0.66099754 |
| 115 | MP0000678_abnormal_parathyroid_gland | 0.65998333 |
| 116 | MP0005451_abnormal_body_composition | 0.64385445 |
| 117 | MP0003634_abnormal_glial_cell | 0.63864294 |
| 118 | MP0002653_abnormal_ependyma_morphology | 0.63604212 |
| 119 | MP0006036_abnormal_mitochondrial_physio | 0.63134192 |
| 120 | MP0004085_abnormal_heartbeat | 0.62294101 |
| 121 | MP0005410_abnormal_fertilization | 0.62159005 |
| 122 | MP0002277_abnormal_respiratory_mucosa | 0.61433034 |
| 123 | MP0003121_genomic_imprinting | 0.61245749 |
| 124 | MP0002751_abnormal_autonomic_nervous | 0.60614803 |
| 125 | MP0004133_heterotaxia | 0.60592133 |
| 126 | MP0000681_abnormal_thyroid_gland | 0.58769689 |
| 127 | MP0001664_abnormal_digestion | 0.56825249 |
| 128 | MP0002249_abnormal_larynx_morphology | 0.55931314 |
| 129 | MP0003638_abnormal_response/metabolism_ | 0.54837705 |
| 130 | MP0004036_abnormal_muscle_relaxation | 0.52301050 |
| 131 | MP0005464_abnormal_platelet_physiology | 0.51293533 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Focal motor seizures (HP:0011153) | 7.13966137 |
| 2 | Febrile seizures (HP:0002373) | 5.03912506 |
| 3 | Myokymia (HP:0002411) | 4.88503031 |
| 4 | Focal seizures (HP:0007359) | 4.80383086 |
| 5 | Atonic seizures (HP:0010819) | 4.69051475 |
| 6 | * Epileptic encephalopathy (HP:0200134) | 4.49629440 |
| 7 | Visual hallucinations (HP:0002367) | 4.30759473 |
| 8 | Absence seizures (HP:0002121) | 4.23608576 |
| 9 | Dialeptic seizures (HP:0011146) | 4.17379319 |
| 10 | Congenital stationary night blindness (HP:0007642) | 4.09943950 |
| 11 | Progressive cerebellar ataxia (HP:0002073) | 3.63418669 |
| 12 | Generalized tonic-clonic seizures (HP:0002069) | 3.58642229 |
| 13 | Hyperventilation (HP:0002883) | 3.48792100 |
| 14 | Neurofibrillary tangles (HP:0002185) | 3.46313783 |
| 15 | Obstructive sleep apnea (HP:0002870) | 3.45666199 |
| 16 | Neuronal loss in central nervous system (HP:0002529) | 3.17863862 |
| 17 | Decreased circulating renin level (HP:0003351) | 3.14131066 |
| 18 | Ventricular fibrillation (HP:0001663) | 3.12288657 |
| 19 | Peripheral hypomyelination (HP:0007182) | 3.06269737 |
| 20 | Mutism (HP:0002300) | 3.00757031 |
| 21 | Papilledema (HP:0001085) | 2.92500052 |
| 22 | Gait imbalance (HP:0002141) | 2.87648398 |
| 23 | Medial flaring of the eyebrow (HP:0010747) | 2.86702382 |
| 24 | Annular pancreas (HP:0001734) | 2.82927292 |
| 25 | Cerebral inclusion bodies (HP:0100314) | 2.82460244 |
| 26 | Bundle branch block (HP:0011710) | 2.81829018 |
| 27 | Hemiparesis (HP:0001269) | 2.76428749 |
| 28 | Nephrogenic diabetes insipidus (HP:0009806) | 2.76223815 |
| 29 | Congenital primary aphakia (HP:0007707) | 2.75413081 |
| 30 | Torticollis (HP:0000473) | 2.70654968 |
| 31 | Polyphagia (HP:0002591) | 2.68978967 |
| 32 | Abnormal hair whorl (HP:0010721) | 2.68790543 |
| 33 | Cerebral hypomyelination (HP:0006808) | 2.68667392 |
| 34 | Akinesia (HP:0002304) | 2.67760983 |
| 35 | Supranuclear gaze palsy (HP:0000605) | 2.66450117 |
| 36 | Abnormal eating behavior (HP:0100738) | 2.65883494 |
| 37 | Neuroendocrine neoplasm (HP:0100634) | 2.55404014 |
| 38 | Failure to thrive in infancy (HP:0001531) | 2.55236711 |
| 39 | * Epileptiform EEG discharges (HP:0011182) | 2.54861265 |
| 40 | Pheochromocytoma (HP:0002666) | 2.50369984 |
| 41 | Intention tremor (HP:0002080) | 2.49497662 |
| 42 | Clonus (HP:0002169) | 2.45507761 |
| 43 | Gaze-evoked nystagmus (HP:0000640) | 2.44860493 |
| 44 | Amblyopia (HP:0000646) | 2.43317068 |
| 45 | Sleep apnea (HP:0010535) | 2.41609974 |
| 46 | Abnormality of macular pigmentation (HP:0008002) | 2.39385854 |
| 47 | Syncope (HP:0001279) | 2.39303049 |
| 48 | Abnormal mitochondria in muscle tissue (HP:0008316) | 2.38799366 |
| 49 | Sudden death (HP:0001699) | 2.38070910 |
| 50 | Anxiety (HP:0000739) | 2.37220775 |
| 51 | Rapidly progressive (HP:0003678) | 2.36158143 |
| 52 | Tetraplegia (HP:0002445) | 2.35143644 |
| 53 | Acute necrotizing encephalopathy (HP:0006965) | 2.34537730 |
| 54 | Abnormal EKG (HP:0003115) | 2.30186543 |
| 55 | Urinary urgency (HP:0000012) | 2.29880684 |
| 56 | Heart block (HP:0012722) | 2.28966319 |
| 57 | Depression (HP:0000716) | 2.28813413 |
| 58 | Dysdiadochokinesis (HP:0002075) | 2.28388652 |
| 59 | Craniofacial dystonia (HP:0012179) | 2.28338949 |
| 60 | Increased circulating renin level (HP:0000848) | 2.27371704 |
| 61 | Hyperactive renin-angiotensin system (HP:0000841) | 2.26253503 |
| 62 | * EEG with generalized epileptiform discharges (HP:0011198) | 2.25566649 |
| 63 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.25408353 |
| 64 | Rigidity (HP:0002063) | 2.25176252 |
| 65 | Distal lower limb muscle weakness (HP:0009053) | 2.23933972 |
| 66 | Poor coordination (HP:0002370) | 2.22799922 |
| 67 | Abnormality of the corticospinal tract (HP:0002492) | 2.21939073 |
| 68 | Hyperthyroidism (HP:0000836) | 2.21525583 |
| 69 | Truncal ataxia (HP:0002078) | 2.21289294 |
| 70 | Central scotoma (HP:0000603) | 2.20969102 |
| 71 | Abnormality of glycolipid metabolism (HP:0010969) | 2.20386338 |
| 72 | Abnormality of liposaccharide metabolism (HP:0010968) | 2.20386338 |
| 73 | Abnormality of glycosphingolipid metabolism (HP:0004343) | 2.20386338 |
| 74 | Lower limb muscle weakness (HP:0007340) | 2.19763034 |
| 75 | Bradykinesia (HP:0002067) | 2.15923840 |
| 76 | Broad-based gait (HP:0002136) | 2.15662053 |
| 77 | Prolonged QT interval (HP:0001657) | 2.15405984 |
| 78 | Abnormal atrioventricular conduction (HP:0005150) | 2.14006889 |
| 79 | Elevated circulating parathyroid hormone (PTH) level (HP:0003165) | 2.12321180 |
| 80 | Dysmetria (HP:0001310) | 2.11561038 |
| 81 | Hemiplegia (HP:0002301) | 2.11124381 |
| 82 | Unsteady gait (HP:0002317) | 2.10735461 |
| 83 | Cortical visual impairment (HP:0100704) | 2.10575014 |
| 84 | Amyloidosis (HP:0011034) | 2.07676703 |
| 85 | Ankle clonus (HP:0011448) | 2.04729287 |
| 86 | Growth hormone excess (HP:0000845) | 2.04153048 |
| 87 | Foot dorsiflexor weakness (HP:0009027) | 2.04132538 |
| 88 | Hyporeflexia of lower limbs (HP:0002600) | 2.04103355 |
| 89 | Delusions (HP:0000746) | 2.03443402 |
| 90 | Apathy (HP:0000741) | 2.01261912 |
| 91 | Exercise-induced myalgia (HP:0003738) | 2.01140968 |
| 92 | Slow saccadic eye movements (HP:0000514) | 2.00186443 |
| 93 | Muscle fiber splitting (HP:0003555) | 1.99189483 |
| 94 | Abnormality of the lower motor neuron (HP:0002366) | 1.98853011 |
| 95 | Myopathic facies (HP:0002058) | 1.98582487 |
| 96 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 1.98459962 |
| 97 | Lower limb asymmetry (HP:0100559) | 1.96888696 |
| 98 | Poor suck (HP:0002033) | 1.95982631 |
| 99 | Diminished motivation (HP:0000745) | 1.95474034 |
| 100 | Absent speech (HP:0001344) | 1.95345018 |
| 101 | Fetal akinesia sequence (HP:0001989) | 1.95212207 |
| 102 | Excessive salivation (HP:0003781) | 1.94724802 |
| 103 | Drooling (HP:0002307) | 1.94724802 |
| 104 | Ventricular arrhythmia (HP:0004308) | 1.93820097 |
| 105 | Abnormality of renin-angiotensin system (HP:0000847) | 1.93533701 |
| 106 | Hypothermia (HP:0002045) | 1.93167110 |
| 107 | Poor eye contact (HP:0000817) | 1.93108139 |
| 108 | Insomnia (HP:0100785) | 1.92867898 |
| 109 | Absent/shortened dynein arms (HP:0200106) | 1.92575500 |
| 110 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 1.92575500 |
| 111 | Anomalous pulmonary venous return (HP:0010772) | 1.90991672 |
| 112 | Abnormality of the foot musculature (HP:0001436) | 1.90792384 |
| 113 | Primitive reflexes (palmomental, snout, glabellar) (HP:0002476) | 1.90437405 |
| 114 | Mitochondrial inheritance (HP:0001427) | 1.90407781 |
| 115 | Severe visual impairment (HP:0001141) | 1.90292622 |
| 116 | Progressive macrocephaly (HP:0004481) | 1.89169046 |
| 117 | Action tremor (HP:0002345) | 1.89080836 |
| 118 | Truncus arteriosus (HP:0001660) | 1.89002701 |
| 119 | Spinal canal stenosis (HP:0003416) | 1.88349531 |
| 120 | Vaginal atresia (HP:0000148) | 1.88284883 |
| 121 | Scanning speech (HP:0002168) | 1.88268665 |
| 122 | Increased cerebral lipofuscin (HP:0011813) | 1.88002517 |
| 123 | * Hypsarrhythmia (HP:0002521) | 1.87529728 |
| 124 | Genital tract atresia (HP:0001827) | 1.87098390 |
| 125 | Lower limb amyotrophy (HP:0007210) | 1.86709514 |
| 126 | Distal upper limb amyotrophy (HP:0007149) | 1.85801960 |
| 127 | Upper limb amyotrophy (HP:0009129) | 1.85801960 |
| 128 | Centrally nucleated skeletal muscle fibers (HP:0003687) | 1.85425970 |
| 129 | Abnormality of saccadic eye movements (HP:0000570) | 1.84080991 |
| 130 | Postural instability (HP:0002172) | 1.83982913 |
| 131 | Pancreatic fibrosis (HP:0100732) | 1.83801786 |
| 132 | Urinary incontinence (HP:0000020) | 1.83329091 |
| 133 | Impaired vibration sensation in the lower limbs (HP:0002166) | 1.82800302 |
| 134 | Stereotypic behavior (HP:0000733) | 1.82671315 |
| 135 | Genetic anticipation (HP:0003743) | 1.82616817 |
| 136 | Decreased central vision (HP:0007663) | 1.82399397 |
| 137 | Impaired smooth pursuit (HP:0007772) | 1.81536502 |
| 138 | Limb dystonia (HP:0002451) | 1.81312201 |
| 139 | Asymmetric septal hypertrophy (HP:0001670) | 1.79284255 |
| 140 | Bony spicule pigmentary retinopathy (HP:0007737) | 1.78550586 |
| 141 | Impaired social interactions (HP:0000735) | 1.78470174 |
| 142 | Abnormal social behavior (HP:0012433) | 1.78470174 |
| 143 | Degeneration of the lateral corticospinal tracts (HP:0002314) | 1.78065128 |
| 144 | Atrophy/Degeneration involving the corticospinal tracts (HP:0007372) | 1.78065128 |
| 145 | Generalized myoclonic seizures (HP:0002123) | 1.77947100 |
| 146 | Hyperaldosteronism (HP:0000859) | 1.77815731 |
| 147 | Spastic tetraparesis (HP:0001285) | 1.77595918 |
| 148 | Abnormality of binocular vision (HP:0011514) | 1.77406595 |
| 149 | Diplopia (HP:0000651) | 1.77406595 |
| 150 | Specific learning disability (HP:0001328) | 1.75165534 |
| 151 | Urinary bladder sphincter dysfunction (HP:0002839) | 1.75089502 |
| 152 | Status epilepticus (HP:0002133) | 1.72825021 |
| 153 | Abnormality of calcium-phosphate metabolism (HP:0100530) | 1.71946342 |
| 154 | Psychosis (HP:0000709) | 1.70902853 |
| 155 | Optic disc pallor (HP:0000543) | 1.70583089 |
| 156 | Increased IgM level (HP:0003496) | 1.68215583 |
| 157 | Acute encephalopathy (HP:0006846) | 1.68182060 |
| 158 | Split foot (HP:0001839) | 1.67747327 |
| 159 | Hyperphosphatemia (HP:0002905) | 1.67430489 |
| 160 | Focal dystonia (HP:0004373) | 1.67387058 |
| 161 | Spastic gait (HP:0002064) | 1.67290237 |
| 162 | Dysautonomia (HP:0002459) | 1.67235752 |
| 163 | Inability to walk (HP:0002540) | 1.66546336 |
| 164 | Incomplete penetrance (HP:0003829) | 1.66507630 |
| 165 | Abnormality of midbrain morphology (HP:0002418) | 1.65991094 |
| 166 | Molar tooth sign on MRI (HP:0002419) | 1.65991094 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | NTRK3 | 4.71072279 |
| 2 | EPHA4 | 3.68324815 |
| 3 | ARAF | 3.22135142 |
| 4 | PRPF4B | 2.97941091 |
| 5 | MAP3K12 | 2.83460153 |
| 6 | MAP3K9 | 2.83215971 |
| 7 | CASK | 2.78935134 |
| 8 | MAP2K7 | 2.70105325 |
| 9 | MAP3K11 | 2.49141488 |
| 10 | AKT3 | 2.41174890 |
| 11 | MAP3K4 | 2.37611367 |
| 12 | TRIB3 | 2.17375014 |
| 13 | MINK1 | 2.10668081 |
| 14 | MAP3K13 | 2.08030960 |
| 15 | NME1 | 1.99805664 |
| 16 | BMPR2 | 1.97144904 |
| 17 | SIK3 | 1.89948413 |
| 18 | RIPK4 | 1.85154659 |
| 19 | MARK2 | 1.84214883 |
| 20 | DAPK1 | 1.82778225 |
| 21 | BRAF | 1.82547303 |
| 22 | DAPK2 | 1.68466119 |
| 23 | MARK1 | 1.54431562 |
| 24 | RIPK1 | 1.54315188 |
| 25 | GRK5 | 1.51625299 |
| 26 | MAP2K4 | 1.45358406 |
| 27 | PAK6 | 1.45244439 |
| 28 | TAOK1 | 1.44015967 |
| 29 | PLK2 | 1.43725955 |
| 30 | KSR2 | 1.43420337 |
| 31 | BCR | 1.43143735 |
| 32 | INSRR | 1.37966699 |
| 33 | MAPK12 | 1.37964527 |
| 34 | KSR1 | 1.37685414 |
| 35 | MAPK13 | 1.37080228 |
| 36 | FES | 1.31762131 |
| 37 | CDK19 | 1.31517792 |
| 38 | TNIK | 1.31159421 |
| 39 | SIK1 | 1.28134574 |
| 40 | TESK1 | 1.26417352 |
| 41 | PDPK1 | 1.20723814 |
| 42 | PRKD3 | 1.18019402 |
| 43 | PRKCG | 1.17205128 |
| 44 | WNK3 | 1.14757586 |
| 45 | SGK223 | 1.14383525 |
| 46 | SGK494 | 1.14383525 |
| 47 | TSSK6 | 1.13126712 |
| 48 | PTK2B | 1.10350029 |
| 49 | STK16 | 1.09405414 |
| 50 | CDK5 | 1.09297824 |
| 51 | SGK2 | 1.09104974 |
| 52 | PDK1 | 1.03575914 |
| 53 | CCNB1 | 1.02409254 |
| 54 | CAMKK2 | 1.02165236 |
| 55 | PRKCH | 1.00813261 |
| 56 | PNCK | 1.00411155 |
| 57 | ERN1 | 1.00308524 |
| 58 | GRK6 | 0.99483876 |
| 59 | MAP2K3 | 0.98298340 |
| 60 | STK38 | 0.98106945 |
| 61 | CAMK2B | 0.97398706 |
| 62 | CAMK2A | 0.96895802 |
| 63 | OXSR1 | 0.94120800 |
| 64 | NTRK2 | 0.92297600 |
| 65 | PRKD2 | 0.90544172 |
| 66 | RAF1 | 0.90343627 |
| 67 | LIMK1 | 0.80047356 |
| 68 | DYRK1B | 0.79756023 |
| 69 | PRKCE | 0.79466286 |
| 70 | CDK3 | 0.78972512 |
| 71 | ICK | 0.78735797 |
| 72 | PINK1 | 0.78023041 |
| 73 | CDK18 | 0.77992955 |
| 74 | TYRO3 | 0.77873384 |
| 75 | DYRK1A | 0.77770278 |
| 76 | GRK7 | 0.73013898 |
| 77 | CAMKK1 | 0.72546350 |
| 78 | CAMK2D | 0.69877254 |
| 79 | DAPK3 | 0.69237994 |
| 80 | CDK15 | 0.68676286 |
| 81 | PKN1 | 0.67796928 |
| 82 | ALK | 0.66781084 |
| 83 | CDK14 | 0.66776074 |
| 84 | PRKG2 | 0.65777305 |
| 85 | CAMK1 | 0.64783058 |
| 86 | NTRK1 | 0.63843810 |
| 87 | ERBB3 | 0.63680416 |
| 88 | SGK3 | 0.63395339 |
| 89 | PRKD1 | 0.63039982 |
| 90 | PAK3 | 0.61736101 |
| 91 | ADRBK2 | 0.61727291 |
| 92 | CAMK2G | 0.61078358 |
| 93 | FER | 0.60203149 |
| 94 | RET | 0.58641178 |
| 95 | CAMK4 | 0.58514754 |
| 96 | CDK11A | 0.57891525 |
| 97 | FYN | 0.57755568 |
| 98 | MAP3K14 | 0.57597860 |
| 99 | MUSK | 0.57207149 |
| 100 | SGK1 | 0.56542794 |
| 101 | TNK2 | 0.56291153 |
| 102 | CDC42BPA | 0.55639579 |
| 103 | MAP3K6 | 0.54304013 |
| 104 | MAP3K1 | 0.53921320 |
| 105 | MAP2K2 | 0.52496788 |
| 106 | IRAK1 | 0.52476019 |
| 107 | BMX | 0.51617882 |
| 108 | STK38L | 0.51503753 |
| 109 | PRKCZ | 0.51320830 |
| 110 | TESK2 | 0.51159447 |
| 111 | RPS6KC1 | 0.50814928 |
| 112 | RPS6KL1 | 0.50814928 |
| 113 | DMPK | 0.50657785 |
| 114 | IRAK2 | 0.48558774 |
| 115 | TAOK2 | 0.48481712 |
| 116 | MAP2K6 | 0.47719100 |
| 117 | MAP3K3 | 0.47466769 |
| 118 | MAPK10 | 0.46518462 |
| 119 | FGR | 0.46426211 |
| 120 | NEK1 | 0.45396651 |
| 121 | MAPK4 | 0.44902589 |
| 122 | LMTK2 | 0.42512320 |
| 123 | ADRBK1 | 0.42150207 |
| 124 | IRAK4 | 0.41788293 |
| 125 | MAP2K1 | 0.39365217 |
| 126 | PHKG1 | 0.39090232 |
| 127 | PHKG2 | 0.39090232 |
| 128 | WNK4 | 0.38123657 |
| 129 | NEK6 | 0.37978238 |
| 130 | UHMK1 | 0.37947528 |
| 131 | MAPK15 | 0.37540916 |
| 132 | IRAK3 | 0.37052274 |
| 133 | MAP3K2 | 0.36551222 |
| 134 | SIK2 | 0.36453324 |
| 135 | SYK | 0.35180503 |
| 136 | RPS6KA2 | 0.35115159 |
| 137 | PRKACA | 0.35092210 |
| 138 | STK11 | 0.31603577 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Nicotine addiction_Homo sapiens_hsa05033 | 4.20025216 |
| 2 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 4.19123508 |
| 3 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 3.26815044 |
| 4 | GABAergic synapse_Homo sapiens_hsa04727 | 2.87513321 |
| 5 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 2.85998571 |
| 6 | Olfactory transduction_Homo sapiens_hsa04740 | 2.74834901 |
| 7 | Circadian entrainment_Homo sapiens_hsa04713 | 2.74052742 |
| 8 | Morphine addiction_Homo sapiens_hsa05032 | 2.70334205 |
| 9 | Amphetamine addiction_Homo sapiens_hsa05031 | 2.29487620 |
| 10 | Glutamatergic synapse_Homo sapiens_hsa04724 | 2.27612012 |
| 11 | Long-term potentiation_Homo sapiens_hsa04720 | 2.24265443 |
| 12 | Insulin secretion_Homo sapiens_hsa04911 | 2.15671116 |
| 13 | Phototransduction_Homo sapiens_hsa04744 | 2.13110517 |
| 14 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 2.02789660 |
| 15 | Dopaminergic synapse_Homo sapiens_hsa04728 | 2.00505977 |
| 16 | Taste transduction_Homo sapiens_hsa04742 | 1.99789752 |
| 17 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.98937831 |
| 18 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.81372554 |
| 19 | Salivary secretion_Homo sapiens_hsa04970 | 1.80273769 |
| 20 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 1.72434305 |
| 21 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 1.68561634 |
| 22 | Cholinergic synapse_Homo sapiens_hsa04725 | 1.62061264 |
| 23 | Renin secretion_Homo sapiens_hsa04924 | 1.56457679 |
| 24 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.45570170 |
| 25 | Cocaine addiction_Homo sapiens_hsa05030 | 1.42164935 |
| 26 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.39566506 |
| 27 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 1.36807873 |
| 28 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 1.35757432 |
| 29 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 1.35309527 |
| 30 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 1.32528088 |
| 31 | Long-term depression_Homo sapiens_hsa04730 | 1.30990241 |
| 32 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.28890335 |
| 33 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 1.25443583 |
| 34 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.24025763 |
| 35 | Gastric acid secretion_Homo sapiens_hsa04971 | 1.23767273 |
| 36 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.19004035 |
| 37 | Circadian rhythm_Homo sapiens_hsa04710 | 1.15787632 |
| 38 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.13896795 |
| 39 | Parkinsons disease_Homo sapiens_hsa05012 | 1.13345847 |
| 40 | Alzheimers disease_Homo sapiens_hsa05010 | 1.11525837 |
| 41 | VEGF signaling pathway_Homo sapiens_hsa04370 | 1.09739702 |
| 42 | cAMP signaling pathway_Homo sapiens_hsa04024 | 1.09047067 |
| 43 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 1.08986404 |
| 44 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 1.08399952 |
| 45 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 1.06138639 |
| 46 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.03334342 |
| 47 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.00082322 |
| 48 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.99238474 |
| 49 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.97479241 |
| 50 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.96455565 |
| 51 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.96097855 |
| 52 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.94832629 |
| 53 | Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750 | 0.92526370 |
| 54 | Histidine metabolism_Homo sapiens_hsa00340 | 0.90490273 |
| 55 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.90444530 |
| 56 | Huntingtons disease_Homo sapiens_hsa05016 | 0.83088321 |
| 57 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.81773280 |
| 58 | Bile secretion_Homo sapiens_hsa04976 | 0.79457964 |
| 59 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.78375202 |
| 60 | Gap junction_Homo sapiens_hsa04540 | 0.74219037 |
| 61 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.73424613 |
| 62 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.70720251 |
| 63 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.70629077 |
| 64 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.70084151 |
| 65 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.69181720 |
| 66 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 0.67826182 |
| 67 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.67015577 |
| 68 | Fc epsilon RI signaling pathway_Homo sapiens_hsa04664 | 0.66344655 |
| 69 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.64372231 |
| 70 | Proteasome_Homo sapiens_hsa03050 | 0.64084716 |
| 71 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.62825520 |
| 72 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.60012698 |
| 73 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.58176734 |
| 74 | Other glycan degradation_Homo sapiens_hsa00511 | 0.56618106 |
| 75 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.56558649 |
| 76 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.55703744 |
| 77 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.55619482 |
| 78 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.55258942 |
| 79 | Lysosome_Homo sapiens_hsa04142 | 0.54732092 |
| 80 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.54605920 |
| 81 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.54517106 |
| 82 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 0.54352716 |
| 83 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.53697399 |
| 84 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.53053351 |
| 85 | Endometrial cancer_Homo sapiens_hsa05213 | 0.52308981 |
| 86 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.52147846 |
| 87 | Phagosome_Homo sapiens_hsa04145 | 0.51621463 |
| 88 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.51318394 |
| 89 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.49558441 |
| 90 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.48290192 |
| 91 | Allograft rejection_Homo sapiens_hsa05330 | 0.46900061 |
| 92 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.44339116 |
| 93 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.44123884 |
| 94 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.42956179 |
| 95 | Chemokine signaling pathway_Homo sapiens_hsa04062 | 0.42295901 |
| 96 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.40019523 |
| 97 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.39854106 |
| 98 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.39615013 |
| 99 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.38181868 |
| 100 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.37736705 |
| 101 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.36919017 |
| 102 | Axon guidance_Homo sapiens_hsa04360 | 0.36578201 |
| 103 | Melanogenesis_Homo sapiens_hsa04916 | 0.36152077 |
| 104 | Osteoclast differentiation_Homo sapiens_hsa04380 | 0.35260748 |
| 105 | Glioma_Homo sapiens_hsa05214 | 0.34425400 |
| 106 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.34286560 |
| 107 | Ras signaling pathway_Homo sapiens_hsa04014 | 0.32653176 |
| 108 | African trypanosomiasis_Homo sapiens_hsa05143 | 0.31785092 |
| 109 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 0.30760240 |
| 110 | Prion diseases_Homo sapiens_hsa05020 | 0.29748337 |
| 111 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.28984659 |
| 112 | Endocytosis_Homo sapiens_hsa04144 | 0.26481250 |
| 113 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 0.24924888 |
| 114 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.24310836 |
| 115 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.23332567 |
| 116 | Alcoholism_Homo sapiens_hsa05034 | 0.21426339 |
| 117 | Galactose metabolism_Homo sapiens_hsa00052 | 0.18837826 |
| 118 | Mineral absorption_Homo sapiens_hsa04978 | 0.18683909 |
| 119 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.18282739 |
| 120 | Tuberculosis_Homo sapiens_hsa05152 | 0.18162213 |
| 121 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.17341055 |
| 122 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.16805778 |
| 123 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.15653115 |
| 124 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.14097903 |
| 125 | Protein export_Homo sapiens_hsa03060 | 0.13551775 |
| 126 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.11659346 |

