

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | presynaptic membrane assembly (GO:0097105) | 7.95811297 |
| 2 | postsynaptic membrane organization (GO:0001941) | 7.09444670 |
| 3 | presynaptic membrane organization (GO:0097090) | 6.91311046 |
| 4 | neuron cell-cell adhesion (GO:0007158) | 5.96170147 |
| 5 | neurotransmitter-gated ion channel clustering (GO:0072578) | 5.03290327 |
| 6 | neuronal action potential propagation (GO:0019227) | 4.64838217 |
| 7 | regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act | 4.47284980 |
| 8 | protein localization to synapse (GO:0035418) | 4.37153045 |
| 9 | positive regulation of excitatory postsynaptic membrane potential (GO:2000463) | 4.35581913 |
| 10 | positive regulation of oligodendrocyte differentiation (GO:0048714) | 4.28840796 |
| 11 | C4-dicarboxylate transport (GO:0015740) | 4.21568599 |
| 12 | vocalization behavior (GO:0071625) | 4.14910493 |
| 13 | response to lipoprotein particle (GO:0055094) | 4.13109556 |
| 14 | ionotropic glutamate receptor signaling pathway (GO:0035235) | 4.08282604 |
| 15 | regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310) | 4.05432756 |
| 16 | positive regulation of synapse assembly (GO:0051965) | 4.03608983 |
| 17 | negative regulation of synaptic transmission, GABAergic (GO:0032229) | 4.01455742 |
| 18 | central nervous system myelination (GO:0022010) | 3.98834825 |
| 19 | axon ensheathment in central nervous system (GO:0032291) | 3.98834825 |
| 20 | regulation of respiratory gaseous exchange by neurological system process (GO:0002087) | 3.96445399 |
| 21 | glutamate receptor signaling pathway (GO:0007215) | 3.85120993 |
| 22 | cellular response to cholesterol (GO:0071397) | 3.76497638 |
| 23 | somite development (GO:0061053) | 3.76004943 |
| 24 | startle response (GO:0001964) | 3.73184820 |
| 25 | membrane assembly (GO:0071709) | 3.59919719 |
| 26 | regulation of glutamate receptor signaling pathway (GO:1900449) | 3.53662119 |
| 27 | regulation of respiratory system process (GO:0044065) | 3.51622385 |
| 28 | synaptic transmission, glutamatergic (GO:0035249) | 3.48447076 |
| 29 | cerebral cortex radially oriented cell migration (GO:0021799) | 3.45566514 |
| 30 | cellular response to sterol (GO:0036315) | 3.44550921 |
| 31 | behavioral response to nicotine (GO:0035095) | 3.42974959 |
| 32 | G-protein coupled glutamate receptor signaling pathway (GO:0007216) | 3.42473365 |
| 33 | cell proliferation in forebrain (GO:0021846) | 3.38903058 |
| 34 | positive regulation of potassium ion transmembrane transport (GO:1901381) | 3.38144595 |
| 35 | short-term memory (GO:0007614) | 3.37925662 |
| 36 | DNA deamination (GO:0045006) | 3.37108749 |
| 37 | serine family amino acid catabolic process (GO:0009071) | 3.32299181 |
| 38 | protein heterotetramerization (GO:0051290) | 3.31385784 |
| 39 | gamma-aminobutyric acid signaling pathway (GO:0007214) | 3.31088081 |
| 40 | positive regulation of mitochondrial fission (GO:0090141) | 3.30410002 |
| 41 | neuron-neuron synaptic transmission (GO:0007270) | 3.29649999 |
| 42 | regulation of neurotransmitter uptake (GO:0051580) | 3.28408138 |
| 43 | L-amino acid import (GO:0043092) | 3.26797808 |
| 44 | positive regulation of membrane potential (GO:0045838) | 3.25796679 |
| 45 | regulation of timing of cell differentiation (GO:0048505) | 3.25554207 |
| 46 | mechanosensory behavior (GO:0007638) | 3.23491693 |
| 47 | cellular potassium ion homeostasis (GO:0030007) | 3.22813636 |
| 48 | protein polyglutamylation (GO:0018095) | 3.21934720 |
| 49 | amino acid import (GO:0043090) | 3.19448774 |
| 50 | regulation of pigment cell differentiation (GO:0050932) | 3.19231567 |
| 51 | regulation of respiratory gaseous exchange (GO:0043576) | 3.17865018 |
| 52 | transmission of nerve impulse (GO:0019226) | 3.16378918 |
| 53 | otic vesicle formation (GO:0030916) | 3.16080726 |
| 54 | positive regulation of dendritic spine development (GO:0060999) | 3.16016861 |
| 55 | oligodendrocyte differentiation (GO:0048709) | 3.15510749 |
| 56 | positive regulation of synaptic transmission, GABAergic (GO:0032230) | 3.14692292 |
| 57 | regulation of synapse assembly (GO:0051963) | 3.14462669 |
| 58 | sulfation (GO:0051923) | 3.11448738 |
| 59 | positive regulation of synaptic transmission, glutamatergic (GO:0051968) | 3.10590307 |
| 60 | negative regulation of glial cell differentiation (GO:0045686) | 3.03671488 |
| 61 | regulation of excitatory postsynaptic membrane potential (GO:0060079) | 3.03207144 |
| 62 | water-soluble vitamin biosynthetic process (GO:0042364) | 3.02112810 |
| 63 | positive regulation of potassium ion transmembrane transporter activity (GO:1901018) | 3.01493503 |
| 64 | positive regulation of inositol phosphate biosynthetic process (GO:0060732) | 3.00412131 |
| 65 | negative regulation of cytosolic calcium ion concentration (GO:0051481) | 2.98159510 |
| 66 | cerebellar granule cell differentiation (GO:0021707) | 2.95191224 |
| 67 | righting reflex (GO:0060013) | 2.95186012 |
| 68 | regulation of synaptic transmission, glutamatergic (GO:0051966) | 2.94396851 |
| 69 | regulation of collateral sprouting (GO:0048670) | 2.94014059 |
| 70 | detection of light stimulus involved in visual perception (GO:0050908) | 2.90482333 |
| 71 | detection of light stimulus involved in sensory perception (GO:0050962) | 2.90482333 |
| 72 | pyrimidine nucleobase catabolic process (GO:0006208) | 2.89868328 |
| 73 | aggressive behavior (GO:0002118) | 2.89348097 |
| 74 | auditory behavior (GO:0031223) | 2.87257670 |
| 75 | response to histamine (GO:0034776) | 2.87136407 |
| 76 | regulation of development, heterochronic (GO:0040034) | 2.86896934 |
| 77 | prostate gland growth (GO:0060736) | 2.86517348 |
| 78 | regulation of postsynaptic membrane potential (GO:0060078) | 2.85521411 |
| 79 | synapse assembly (GO:0007416) | 2.84419715 |
| 80 | detection of mechanical stimulus involved in sensory perception of sound (GO:0050910) | 2.81017481 |
| 81 | positive regulation of neurotransmitter secretion (GO:0001956) | 2.80144873 |
| 82 | neurotransmitter uptake (GO:0001504) | 2.78956404 |
| 83 | glycosphingolipid biosynthetic process (GO:0006688) | 2.78740508 |
| 84 | regulation of oligodendrocyte differentiation (GO:0048713) | 2.78444170 |
| 85 | cranial nerve structural organization (GO:0021604) | 2.78042757 |
| 86 | serotonin metabolic process (GO:0042428) | 2.77250479 |
| 87 | negative regulation of neurotransmitter transport (GO:0051589) | 2.77249233 |
| 88 | retinal ganglion cell axon guidance (GO:0031290) | 2.77043354 |
| 89 | positive regulation of phosphoprotein phosphatase activity (GO:0032516) | 2.76425310 |
| 90 | regulation of synapse structural plasticity (GO:0051823) | 2.76206661 |
| 91 | regulation of synaptic transmission, GABAergic (GO:0032228) | 2.75501554 |
| 92 | limb bud formation (GO:0060174) | 2.75218447 |
| 93 | platelet dense granule organization (GO:0060155) | 2.73936565 |
| 94 | negative regulation of calcium ion-dependent exocytosis (GO:0045955) | 2.73703614 |
| 95 | primary amino compound metabolic process (GO:1901160) | 2.72848210 |
| 96 | lateral sprouting from an epithelium (GO:0060601) | 2.71954448 |
| 97 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 2.70460647 |
| 98 | regulation of inhibitory postsynaptic membrane potential (GO:0060080) | 2.70208837 |
| 99 | negative regulation of mast cell activation (GO:0033004) | 2.69393219 |
| 100 | long-term synaptic potentiation (GO:0060291) | 2.68225611 |
| 101 | regulation of synaptic vesicle exocytosis (GO:2000300) | 2.67783099 |
| 102 | gamma-aminobutyric acid transport (GO:0015812) | 2.66767813 |
| 103 | neuron recognition (GO:0008038) | 2.66479469 |
| 104 | spinal cord development (GO:0021510) | 2.65662089 |
| 105 | response to pheromone (GO:0019236) | 2.65165967 |
| 106 | facial nerve structural organization (GO:0021612) | 2.63549962 |
| 107 | potassium ion import (GO:0010107) | 2.63333606 |
| 108 | generation of neurons (GO:0048699) | 2.62993691 |
| 109 | long-term memory (GO:0007616) | 2.62948952 |
| 110 | positive regulation of synapse maturation (GO:0090129) | 2.61691516 |
| 111 | nonmotile primary cilium assembly (GO:0035058) | 2.61551771 |
| 112 | negative regulation of synaptic transmission, glutamatergic (GO:0051967) | 2.60902512 |
| 113 | forebrain neuron differentiation (GO:0021879) | 2.60822039 |
| 114 | locomotory exploration behavior (GO:0035641) | 2.57706315 |
| 115 | mitochondrial respiratory chain complex I assembly (GO:0032981) | 2.57667114 |
| 116 | NADH dehydrogenase complex assembly (GO:0010257) | 2.57667114 |
| 117 | mitochondrial respiratory chain complex I biogenesis (GO:0097031) | 2.57667114 |
| 118 | negative regulation of protein localization to cell surface (GO:2000009) | 2.57441906 |
| 119 | long-chain fatty acid biosynthetic process (GO:0042759) | 2.55608416 |
| 120 | cranial nerve morphogenesis (GO:0021602) | 2.55541410 |
| 121 | preassembly of GPI anchor in ER membrane (GO:0016254) | 2.55273475 |
| 122 | developmental pigmentation (GO:0048066) | 2.54994905 |
| 123 | central nervous system projection neuron axonogenesis (GO:0021952) | 2.54665000 |
| 124 | central nervous system neuron axonogenesis (GO:0021955) | 2.53706353 |
| 125 | regulation of synapse maturation (GO:0090128) | 2.52606049 |
| 126 | adult walking behavior (GO:0007628) | 2.52576471 |
| 127 | regulation of dendritic spine development (GO:0060998) | 2.50627669 |
| 128 | negative regulation of transcription regulatory region DNA binding (GO:2000678) | 2.50305397 |
| 129 | learning (GO:0007612) | 2.48499622 |
| 130 | regulation of inositol phosphate biosynthetic process (GO:0010919) | 2.48458170 |
| 131 | negative regulation of systemic arterial blood pressure (GO:0003085) | 2.48314454 |
| 132 | fucose catabolic process (GO:0019317) | 2.48308426 |
| 133 | L-fucose metabolic process (GO:0042354) | 2.48308426 |
| 134 | L-fucose catabolic process (GO:0042355) | 2.48308426 |
| 135 | regulation of glomerulus development (GO:0090192) | 2.47810129 |
| 136 | cilium morphogenesis (GO:0060271) | 2.47510389 |
| 137 | negative regulation of neurotransmitter secretion (GO:0046929) | 2.47408092 |
| 138 | regulation of synapse organization (GO:0050807) | 2.46590815 |
| 139 | negative regulation of execution phase of apoptosis (GO:1900118) | 2.46582581 |
| 140 | limb development (GO:0060173) | 2.46126691 |
| 141 | appendage development (GO:0048736) | 2.46126691 |
| 142 | dendritic spine morphogenesis (GO:0060997) | 2.45886520 |
| 143 | positive regulation of glomerulus development (GO:0090193) | 2.45797964 |
| 144 | regulation of action potential (GO:0098900) | 2.45690355 |
| 145 | fear response (GO:0042596) | 2.45594104 |
| 146 | alanine transport (GO:0032328) | 2.45483503 |
| 147 | regulation of short-term neuronal synaptic plasticity (GO:0048172) | 2.45151313 |
| 148 | behavioral fear response (GO:0001662) | 2.44936755 |
| 149 | dentate gyrus development (GO:0021542) | 2.44480460 |
| 150 | exploration behavior (GO:0035640) | 2.43160517 |
| 151 | dendrite development (GO:0016358) | 2.41940868 |
| 152 | membrane depolarization during cardiac muscle cell action potential (GO:0086012) | 2.40114460 |
| 153 | positive regulation of protein kinase C signaling (GO:0090037) | 2.39341977 |
| 154 | mannosylation (GO:0097502) | 2.38272590 |
| 155 | membrane hyperpolarization (GO:0060081) | 2.37723304 |
| 156 | positive regulation of dendritic spine morphogenesis (GO:0061003) | 2.37403969 |
| 157 | response to auditory stimulus (GO:0010996) | 2.36910807 |
| 158 | sympathetic nervous system development (GO:0048485) | 2.36125889 |
| 159 | regulation of protein kinase A signaling (GO:0010738) | 2.35967184 |
| 160 | photoreceptor cell differentiation (GO:0046530) | 2.35610807 |
| 161 | eye photoreceptor cell differentiation (GO:0001754) | 2.35610807 |
| 162 | retina layer formation (GO:0010842) | 2.35309871 |
| 163 | synaptic vesicle exocytosis (GO:0016079) | 2.34116319 |
| 164 | calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339) | 2.32499351 |
| 165 | positive regulation of action potential (GO:0045760) | 2.32029824 |
| 166 | negative regulation of astrocyte differentiation (GO:0048712) | 2.31703323 |
| 167 | behavioral defense response (GO:0002209) | 2.30287602 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 5.48333693 |
| 2 | GBX2_23144817_ChIP-Seq_PC3_Human | 4.23541951 |
| 3 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 3.11035403 |
| 4 | SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 2.79463569 |
| 5 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 2.76144549 |
| 6 | TAF15_26573619_Chip-Seq_HEK293_Human | 2.70190889 |
| 7 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.70134219 |
| 8 | SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 2.69389334 |
| 9 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 2.64035921 |
| 10 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.62829309 |
| 11 | SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 2.58651183 |
| 12 | * ZFP57_27257070_Chip-Seq_ESCs_Mouse | 2.57312058 |
| 13 | SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 2.47133628 |
| 14 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 2.42996000 |
| 15 | * EZH2_18974828_ChIP-Seq_MESCs_Mouse | 2.32654983 |
| 16 | * RNF2_18974828_ChIP-Seq_MESCs_Mouse | 2.32654983 |
| 17 | SUZ12_18692474_ChIP-Seq_MEFs_Mouse | 2.31199882 |
| 18 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 2.31166665 |
| 19 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.20908250 |
| 20 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 2.06861928 |
| 21 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.05507088 |
| 22 | AR_21572438_ChIP-Seq_LNCaP_Human | 2.04067591 |
| 23 | PHC1_16625203_ChIP-ChIP_MESCs_Mouse | 2.03732866 |
| 24 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 2.01513962 |
| 25 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.97620282 |
| 26 | RNF2_27304074_Chip-Seq_ESCs_Mouse | 1.95906791 |
| 27 | MTF2_20144788_ChIP-Seq_MESCs_Mouse | 1.95195778 |
| 28 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.95185203 |
| 29 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.94811999 |
| 30 | SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 1.92027761 |
| 31 | RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 1.89539433 |
| 32 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.87594332 |
| 33 | P300_19829295_ChIP-Seq_ESCs_Human | 1.86633493 |
| 34 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.86184168 |
| 35 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.84048025 |
| 36 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.72252033 |
| 37 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.69898582 |
| 38 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.68390685 |
| 39 | FUS_26573619_Chip-Seq_HEK293_Human | 1.67842879 |
| 40 | * RNF2_27304074_Chip-Seq_NSC_Mouse | 1.65347491 |
| 41 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.63703401 |
| 42 | SMAD_19615063_ChIP-ChIP_OVARY_Human | 1.60525711 |
| 43 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.59034936 |
| 44 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.57302449 |
| 45 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.56847645 |
| 46 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.56704423 |
| 47 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.56032628 |
| 48 | VDR_22108803_ChIP-Seq_LS180_Human | 1.54126625 |
| 49 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 1.54039798 |
| 50 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.54021627 |
| 51 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.51586437 |
| 52 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.50898170 |
| 53 | SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.50674830 |
| 54 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.47117406 |
| 55 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.44725950 |
| 56 | OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.43971157 |
| 57 | IKZF1_21737484_ChIP-ChIP_HCT116_Human | 1.43926383 |
| 58 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.42573501 |
| 59 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.39876544 |
| 60 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 1.39661969 |
| 61 | P53_22387025_ChIP-Seq_ESCs_Mouse | 1.37567195 |
| 62 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.37441613 |
| 63 | E2F1_18555785_Chip-Seq_ESCs_Mouse | 1.37431947 |
| 64 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.36898169 |
| 65 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.33076869 |
| 66 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 1.30333440 |
| 67 | EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 1.30119087 |
| 68 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.29797058 |
| 69 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 1.28414830 |
| 70 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.27854307 |
| 71 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 1.27268269 |
| 72 | P300_18555785_Chip-Seq_ESCs_Mouse | 1.25929264 |
| 73 | CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons | 1.24896926 |
| 74 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.24746623 |
| 75 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.24746623 |
| 76 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 1.24522663 |
| 77 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.23577401 |
| 78 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.22915565 |
| 79 | AR_25329375_ChIP-Seq_VCAP_Human | 1.22016805 |
| 80 | NMYC_18555785_Chip-Seq_ESCs_Mouse | 1.20731694 |
| 81 | RUNX1_27457419_Chip-Seq_LIVER_Mouse | 1.19011071 |
| 82 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 1.17830777 |
| 83 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.17601703 |
| 84 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.16451359 |
| 85 | SOX2_18555785_Chip-Seq_ESCs_Mouse | 1.16409216 |
| 86 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.15642329 |
| 87 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.15482265 |
| 88 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.15450395 |
| 89 | EWS_26573619_Chip-Seq_HEK293_Human | 1.15030475 |
| 90 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.14441367 |
| 91 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.13841572 |
| 92 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.13464043 |
| 93 | NOTCH1_21737748_ChIP-Seq_TLL_Human | 1.12502627 |
| 94 | REST_18959480_ChIP-ChIP_MESCs_Mouse | 1.12418094 |
| 95 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 1.11757039 |
| 96 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.11662781 |
| 97 | JUN_21703547_ChIP-Seq_K562_Human | 1.10643715 |
| 98 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.10563923 |
| 99 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.10337632 |
| 100 | SOX2_21211035_ChIP-Seq_LN229_Gbm | 1.10318437 |
| 101 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.10278531 |
| 102 | P53_22127205_ChIP-Seq_FIBROBLAST_Human | 1.08910938 |
| 103 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.08180076 |
| 104 | STAT3_23295773_ChIP-Seq_U87_Human | 1.07814001 |
| 105 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.07153064 |
| 106 | * TCF4_22108803_ChIP-Seq_LS180_Human | 1.06350467 |
| 107 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.05778880 |
| 108 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.05314936 |
| 109 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.05314936 |
| 110 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.04955581 |
| 111 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.04693695 |
| 112 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.04693695 |
| 113 | OCT4_18555785_Chip-Seq_ESCs_Mouse | 1.04682876 |
| 114 | FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse | 1.04234210 |
| 115 | RING1B_27294783_Chip-Seq_ESCs_Mouse | 1.04109226 |
| 116 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.03588949 |
| 117 | KDM2B_26808549_Chip-Seq_REH_Human | 1.02648790 |
| 118 | * TCF4_23295773_ChIP-Seq_U87_Human | 1.02470947 |
| 119 | KLF4_18555785_Chip-Seq_ESCs_Mouse | 1.01873748 |
| 120 | PU1_27457419_Chip-Seq_LIVER_Mouse | 1.01021515 |
| 121 | ZFX_18555785_Chip-Seq_ESCs_Mouse | 1.00255799 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003880_abnormal_central_pattern | 5.24448170 |
| 2 | MP0003136_yellow_coat_color | 4.78670353 |
| 3 | MP0001188_hyperpigmentation | 3.71848313 |
| 4 | MP0005409_darkened_coat_color | 3.16961693 |
| 5 | MP0009379_abnormal_foot_pigmentation | 2.73705118 |
| 6 | MP0006292_abnormal_olfactory_placode | 2.71151026 |
| 7 | MP0001968_abnormal_touch/_nociception | 2.60832738 |
| 8 | MP0004381_abnormal_hair_follicle | 2.55538610 |
| 9 | MP0004859_abnormal_synaptic_plasticity | 2.53780127 |
| 10 | MP0009745_abnormal_behavioral_response | 2.46468582 |
| 11 | MP0003635_abnormal_synaptic_transmissio | 2.44360535 |
| 12 | MP0001486_abnormal_startle_reflex | 2.36226942 |
| 13 | MP0009046_muscle_twitch | 2.32770348 |
| 14 | MP0002653_abnormal_ependyma_morphology | 2.30903949 |
| 15 | MP0005423_abnormal_somatic_nervous | 2.28536579 |
| 16 | MP0005171_absent_coat_pigmentation | 2.27716295 |
| 17 | MP0002064_seizures | 2.17021009 |
| 18 | MP0004270_analgesia | 2.12392244 |
| 19 | MP0002272_abnormal_nervous_system | 2.10744218 |
| 20 | MP0000566_synostosis | 2.03615150 |
| 21 | MP0004142_abnormal_muscle_tone | 1.99709329 |
| 22 | MP0002736_abnormal_nociception_after | 1.99695925 |
| 23 | MP0002572_abnormal_emotion/affect_behav | 1.96393915 |
| 24 | MP0002067_abnormal_sensory_capabilities | 1.92072739 |
| 25 | MP0002063_abnormal_learning/memory/cond | 1.84931520 |
| 26 | MP0006276_abnormal_autonomic_nervous | 1.81531387 |
| 27 | MP0005646_abnormal_pituitary_gland | 1.80674654 |
| 28 | MP0002734_abnormal_mechanical_nocicepti | 1.76634078 |
| 29 | MP0004742_abnormal_vestibular_system | 1.74743386 |
| 30 | MP0000778_abnormal_nervous_system | 1.70678702 |
| 31 | MP0005174_abnormal_tail_pigmentation | 1.70022842 |
| 32 | MP0000015_abnormal_ear_pigmentation | 1.69892312 |
| 33 | MP0002557_abnormal_social/conspecific_i | 1.63808741 |
| 34 | MP0008877_abnormal_DNA_methylation | 1.63777497 |
| 35 | MP0001986_abnormal_taste_sensitivity | 1.60513140 |
| 36 | MP0002735_abnormal_chemical_nociception | 1.59597371 |
| 37 | MP0003938_abnormal_ear_development | 1.53641555 |
| 38 | MP0002638_abnormal_pupillary_reflex | 1.53464172 |
| 39 | MP0008872_abnormal_physiological_respon | 1.51365283 |
| 40 | MP0005645_abnormal_hypothalamus_physiol | 1.49682657 |
| 41 | MP0002184_abnormal_innervation | 1.44913294 |
| 42 | MP0002102_abnormal_ear_morphology | 1.44757661 |
| 43 | MP0001501_abnormal_sleep_pattern | 1.43389389 |
| 44 | MP0005551_abnormal_eye_electrophysiolog | 1.43365872 |
| 45 | MP0003119_abnormal_digestive_system | 1.42974844 |
| 46 | MP0001970_abnormal_pain_threshold | 1.42430870 |
| 47 | MP0001905_abnormal_dopamine_level | 1.42403039 |
| 48 | MP0000516_abnormal_urinary_system | 1.40236975 |
| 49 | MP0005367_renal/urinary_system_phenotyp | 1.40236975 |
| 50 | MP0001984_abnormal_olfaction | 1.39887580 |
| 51 | MP0000026_abnormal_inner_ear | 1.38475051 |
| 52 | MP0001440_abnormal_grooming_behavior | 1.37354606 |
| 53 | MP0008569_lethality_at_weaning | 1.32328894 |
| 54 | MP0008260_abnormal_autophagy | 1.31108703 |
| 55 | MP0002876_abnormal_thyroid_physiology | 1.30318107 |
| 56 | MP0001529_abnormal_vocalization | 1.26801659 |
| 57 | MP0000920_abnormal_myelination | 1.26039653 |
| 58 | MP0001963_abnormal_hearing_physiology | 1.25017147 |
| 59 | MP0000631_abnormal_neuroendocrine_gland | 1.24080970 |
| 60 | MP0001502_abnormal_circadian_rhythm | 1.23160816 |
| 61 | MP0002733_abnormal_thermal_nociception | 1.22029582 |
| 62 | MP0004885_abnormal_endolymph | 1.21676569 |
| 63 | MP0002837_dystrophic_cardiac_calcinosis | 1.19765800 |
| 64 | MP0004133_heterotaxia | 1.19381059 |
| 65 | MP0002751_abnormal_autonomic_nervous | 1.18427144 |
| 66 | MP0002234_abnormal_pharynx_morphology | 1.16334678 |
| 67 | MP0000049_abnormal_middle_ear | 1.15861686 |
| 68 | MP0003937_abnormal_limbs/digits/tail_de | 1.15708441 |
| 69 | MP0002882_abnormal_neuron_morphology | 1.15271841 |
| 70 | MP0005670_abnormal_white_adipose | 1.11977316 |
| 71 | MP0000013_abnormal_adipose_tissue | 1.11723502 |
| 72 | MP0001485_abnormal_pinna_reflex | 1.11476846 |
| 73 | MP0002752_abnormal_somatic_nervous | 1.11256926 |
| 74 | MP0000372_irregular_coat_pigmentation | 1.10574107 |
| 75 | MP0002095_abnormal_skin_pigmentation | 1.04853299 |
| 76 | MP0005253_abnormal_eye_physiology | 1.02515415 |
| 77 | MP0005389_reproductive_system_phenotype | 1.01732552 |
| 78 | MP0002282_abnormal_trachea_morphology | 1.01447044 |
| 79 | MP0003195_calcinosis | 1.00628532 |
| 80 | MP0002160_abnormal_reproductive_system | 1.00321353 |
| 81 | MP0002009_preneoplasia | 0.99813525 |
| 82 | MP0000383_abnormal_hair_follicle | 0.99444862 |
| 83 | MP0003879_abnormal_hair_cell | 0.98368014 |
| 84 | MP0001177_atelectasis | 0.97781808 |
| 85 | MP0000955_abnormal_spinal_cord | 0.97034676 |
| 86 | MP0006072_abnormal_retinal_apoptosis | 0.96094362 |
| 87 | MP0002277_abnormal_respiratory_mucosa | 0.95446542 |
| 88 | MP0002066_abnormal_motor_capabilities/c | 0.94766012 |
| 89 | MP0005187_abnormal_penis_morphology | 0.91734208 |
| 90 | MP0000569_abnormal_digit_pigmentation | 0.91292217 |
| 91 | MP0009053_abnormal_anal_canal | 0.90996617 |
| 92 | MP0002938_white_spotting | 0.90350722 |
| 93 | MP0002177_abnormal_outer_ear | 0.89735289 |
| 94 | MP0002249_abnormal_larynx_morphology | 0.89212327 |
| 95 | MP0005379_endocrine/exocrine_gland_phen | 0.87763577 |
| 96 | MP0004924_abnormal_behavior | 0.87713414 |
| 97 | MP0005386_behavior/neurological_phenoty | 0.87713414 |
| 98 | MP0002229_neurodegeneration | 0.86118102 |
| 99 | MP0003787_abnormal_imprinting | 0.85783522 |
| 100 | MP0005499_abnormal_olfactory_system | 0.84188277 |
| 101 | MP0005394_taste/olfaction_phenotype | 0.84188277 |
| 102 | MP0009250_abnormal_appendicular_skeleto | 0.83452266 |
| 103 | MP0003634_abnormal_glial_cell | 0.83335994 |
| 104 | MP0005391_vision/eye_phenotype | 0.83067754 |
| 105 | MP0001664_abnormal_digestion | 0.82431195 |
| 106 | MP0003724_increased_susceptibility_to | 0.82356871 |
| 107 | MP0004043_abnormal_pH_regulation | 0.81536336 |
| 108 | MP0003011_delayed_dark_adaptation | 0.79358630 |
| 109 | MP0002928_abnormal_bile_duct | 0.79335504 |
| 110 | MP0008789_abnormal_olfactory_epithelium | 0.78513635 |
| 111 | MP0000647_abnormal_sebaceous_gland | 0.77996010 |
| 112 | MP0000534_abnormal_ureter_morphology | 0.76249527 |
| 113 | MP0003283_abnormal_digestive_organ | 0.75928085 |
| 114 | MP0002152_abnormal_brain_morphology | 0.74779128 |
| 115 | MP0000681_abnormal_thyroid_gland | 0.72598629 |
| 116 | MP0003941_abnormal_skin_development | 0.69684436 |
| 117 | MP0003633_abnormal_nervous_system | 0.69321737 |
| 118 | MP0002822_catalepsy | 0.68152773 |
| 119 | MP0004145_abnormal_muscle_electrophysio | 0.66519253 |
| 120 | MP0002163_abnormal_gland_morphology | 0.66283196 |
| 121 | MP0005195_abnormal_posterior_eye | 0.64820469 |
| 122 | MP0005075_abnormal_melanosome_morpholog | 0.64611975 |
| 123 | MP0001346_abnormal_lacrimal_gland | 0.64225548 |
| 124 | MP0003631_nervous_system_phenotype | 0.62104389 |
| 125 | MP0003690_abnormal_glial_cell | 0.60895361 |
| 126 | MP0004811_abnormal_neuron_physiology | 0.60579562 |
| 127 | MP0003315_abnormal_perineum_morphology | 0.60227423 |
| 128 | MP0005595_abnormal_vascular_smooth | 0.60093512 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Focal motor seizures (HP:0011153) | 5.84680466 |
| 2 | Febrile seizures (HP:0002373) | 3.74669659 |
| 3 | Abnormality of the axillary hair (HP:0100134) | 3.63098366 |
| 4 | Abnormality of secondary sexual hair (HP:0009888) | 3.63098366 |
| 5 | Epileptic encephalopathy (HP:0200134) | 3.55795012 |
| 6 | Hyperventilation (HP:0002883) | 3.46374825 |
| 7 | Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026) | 3.41515837 |
| 8 | Short 1st metacarpal (HP:0010034) | 3.41515837 |
| 9 | Pancreatic cysts (HP:0001737) | 3.33721406 |
| 10 | Split foot (HP:0001839) | 3.09162423 |
| 11 | Molar tooth sign on MRI (HP:0002419) | 2.99805237 |
| 12 | Abnormality of midbrain morphology (HP:0002418) | 2.99805237 |
| 13 | Broad-based gait (HP:0002136) | 2.97441619 |
| 14 | Abnormality of the 1st metacarpal (HP:0010009) | 2.96804445 |
| 15 | Parakeratosis (HP:0001036) | 2.92080517 |
| 16 | Increased corneal curvature (HP:0100692) | 2.89724498 |
| 17 | Keratoconus (HP:0000563) | 2.89724498 |
| 18 | Atonic seizures (HP:0010819) | 2.89281574 |
| 19 | Abolished electroretinogram (ERG) (HP:0000550) | 2.88678376 |
| 20 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 2.88374578 |
| 21 | Absent/shortened dynein arms (HP:0200106) | 2.88374578 |
| 22 | Sex reversal (HP:0012245) | 2.87006317 |
| 23 | Abnormal sex determination (HP:0012244) | 2.87006317 |
| 24 | Hemiplegia (HP:0002301) | 2.85632245 |
| 25 | Thyroid-stimulating hormone excess (HP:0002925) | 2.84350489 |
| 26 | Nonprogressive disorder (HP:0003680) | 2.83953002 |
| 27 | Optic nerve hypoplasia (HP:0000609) | 2.80688430 |
| 28 | Abnormality of the proximal phalanges of the hand (HP:0009834) | 2.77456402 |
| 29 | Abnormal ciliary motility (HP:0012262) | 2.75241314 |
| 30 | Abnormality of the middle phalanges of the toes (HP:0010183) | 2.71458778 |
| 31 | Stenosis of the external auditory canal (HP:0000402) | 2.70248159 |
| 32 | Focal seizures (HP:0007359) | 2.69570309 |
| 33 | Short phalanx of the thumb (HP:0009660) | 2.69260165 |
| 34 | Aplasia/Hypoplasia of the hallux (HP:0008362) | 2.64159228 |
| 35 | Hypothermia (HP:0002045) | 2.63707732 |
| 36 | Short hallux (HP:0010109) | 2.62737412 |
| 37 | Optic disc pallor (HP:0000543) | 2.60272865 |
| 38 | Megalencephaly (HP:0001355) | 2.57699868 |
| 39 | Nephronophthisis (HP:0000090) | 2.57225821 |
| 40 | Gaze-evoked nystagmus (HP:0000640) | 2.56391818 |
| 41 | Septo-optic dysplasia (HP:0100842) | 2.56130640 |
| 42 | Congenital stationary night blindness (HP:0007642) | 2.55364595 |
| 43 | Pendular nystagmus (HP:0012043) | 2.51237539 |
| 44 | Type I transferrin isoform profile (HP:0003642) | 2.48372318 |
| 45 | Medial flaring of the eyebrow (HP:0010747) | 2.43662106 |
| 46 | Absent septum pellucidum (HP:0001331) | 2.43440109 |
| 47 | Chorioretinal atrophy (HP:0000533) | 2.40420896 |
| 48 | Progressive cerebellar ataxia (HP:0002073) | 2.39797741 |
| 49 | Myokymia (HP:0002411) | 2.39702420 |
| 50 | Abnormal respiratory epithelium morphology (HP:0012253) | 2.35377152 |
| 51 | Abnormal respiratory motile cilium morphology (HP:0005938) | 2.35377152 |
| 52 | True hermaphroditism (HP:0010459) | 2.35241274 |
| 53 | Stomach cancer (HP:0012126) | 2.31453310 |
| 54 | Hyperglycinemia (HP:0002154) | 2.29089565 |
| 55 | Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658) | 2.28830951 |
| 56 | Peripheral hypomyelination (HP:0007182) | 2.28283032 |
| 57 | Ulnar claw (HP:0001178) | 2.28215353 |
| 58 | Attenuation of retinal blood vessels (HP:0007843) | 2.26257091 |
| 59 | Absent speech (HP:0001344) | 2.24719461 |
| 60 | Abnormality of the septum pellucidum (HP:0007375) | 2.23248226 |
| 61 | Abnormal respiratory motile cilium physiology (HP:0012261) | 2.23074038 |
| 62 | Long nose (HP:0003189) | 2.22919772 |
| 63 | Progressive inability to walk (HP:0002505) | 2.22914769 |
| 64 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 2.21575456 |
| 65 | Abnormality of alanine metabolism (HP:0010916) | 2.21575456 |
| 66 | Hyperalaninemia (HP:0003348) | 2.21575456 |
| 67 | Abnormality of the renal medulla (HP:0100957) | 2.20020058 |
| 68 | Dialeptic seizures (HP:0011146) | 2.19832858 |
| 69 | Action tremor (HP:0002345) | 2.19004920 |
| 70 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 2.18042649 |
| 71 | Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173) | 2.17559837 |
| 72 | Hemiparesis (HP:0001269) | 2.16513986 |
| 73 | White forelock (HP:0002211) | 2.16403088 |
| 74 | Abnormality of the nasal septum (HP:0000419) | 2.16282638 |
| 75 | Synostosis of carpal bones (HP:0005048) | 2.15145318 |
| 76 | Type II lissencephaly (HP:0007260) | 2.15116715 |
| 77 | Adactyly (HP:0009776) | 2.14586565 |
| 78 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 2.14438805 |
| 79 | 3-Methylglutaconic aciduria (HP:0003535) | 2.14296875 |
| 80 | Morphological abnormality of the middle ear (HP:0008609) | 2.12288585 |
| 81 | Patchy hypopigmentation of hair (HP:0011365) | 2.11668854 |
| 82 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 2.11535309 |
| 83 | Congenital nonbullous ichthyosiform erythroderma (HP:0007479) | 2.11499351 |
| 84 | Renal Fanconi syndrome (HP:0001994) | 2.11002645 |
| 85 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 2.10772110 |
| 86 | Methylmalonic acidemia (HP:0002912) | 2.10680004 |
| 87 | Abnormality of glycine metabolism (HP:0010895) | 2.10632374 |
| 88 | Abnormality of serine family amino acid metabolism (HP:0010894) | 2.10632374 |
| 89 | Gait imbalance (HP:0002141) | 2.09145632 |
| 90 | Decreased central vision (HP:0007663) | 2.08928275 |
| 91 | Excessive salivation (HP:0003781) | 2.08921639 |
| 92 | Drooling (HP:0002307) | 2.08921639 |
| 93 | Retinal dysplasia (HP:0007973) | 2.08280609 |
| 94 | Genetic anticipation (HP:0003743) | 2.07983469 |
| 95 | Esotropia (HP:0000565) | 2.07848888 |
| 96 | Sclerocornea (HP:0000647) | 2.07015751 |
| 97 | Hypoplasia of the uterus (HP:0000013) | 2.06189900 |
| 98 | Abnormality of the middle phalanx of the 5th finger (HP:0004219) | 2.05362437 |
| 99 | Amelogenesis imperfecta (HP:0000705) | 2.04862635 |
| 100 | Symphalangism affecting the phalanges of the hand (HP:0009773) | 2.04632914 |
| 101 | Aplasia/Hypoplasia of the tibia (HP:0005772) | 2.03285121 |
| 102 | Sensory axonal neuropathy (HP:0003390) | 2.01472294 |
| 103 | Muscle abnormality related to mitochondrial dysfunction (HP:0003800) | 2.01173333 |
| 104 | Hyperglycinuria (HP:0003108) | 2.00597351 |
| 105 | Conical tooth (HP:0000698) | 2.00474756 |
| 106 | Humeroradial synostosis (HP:0003041) | 1.99721729 |
| 107 | Synostosis involving the elbow (HP:0003938) | 1.99721729 |
| 108 | Concave nail (HP:0001598) | 1.99398398 |
| 109 | Short tibia (HP:0005736) | 1.98823755 |
| 110 | Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688) | 1.98523387 |
| 111 | Abnormality of the renal cortex (HP:0011035) | 1.97934112 |
| 112 | Hypomagnesemia (HP:0002917) | 1.97551735 |
| 113 | Aplasia/hypoplasia of the uterus (HP:0008684) | 1.97370624 |
| 114 | Obstructive sleep apnea (HP:0002870) | 1.97152788 |
| 115 | Aplasia/Hypoplasia of the sternum (HP:0006714) | 1.96704709 |
| 116 | Congenital primary aphakia (HP:0007707) | 1.96204449 |
| 117 | Renal cortical cysts (HP:0000803) | 1.96181524 |
| 118 | Abnormality of magnesium homeostasis (HP:0004921) | 1.95731003 |
| 119 | Metabolic alkalosis (HP:0200114) | 1.95518865 |
| 120 | Absence seizures (HP:0002121) | 1.95084683 |
| 121 | Alacrima (HP:0000522) | 1.94293792 |
| 122 | Hypoplasia of the ulna (HP:0003022) | 1.94293187 |
| 123 | Cystic liver disease (HP:0006706) | 1.94113371 |
| 124 | Acute necrotizing encephalopathy (HP:0006965) | 1.93957246 |
| 125 | Thickened helices (HP:0000391) | 1.93610123 |
| 126 | Pancreatic fibrosis (HP:0100732) | 1.92977723 |
| 127 | Congenital sensorineural hearing impairment (HP:0008527) | 1.92106850 |
| 128 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.90956710 |
| 129 | Postaxial hand polydactyly (HP:0001162) | 1.89842676 |
| 130 | Nephrogenic diabetes insipidus (HP:0009806) | 1.89495685 |
| 131 | Blue irides (HP:0000635) | 1.89423440 |
| 132 | Aplasia involving bones of the extremities (HP:0009825) | 1.89223986 |
| 133 | Aplasia involving bones of the upper limbs (HP:0009823) | 1.89223986 |
| 134 | Aplasia of the phalanges of the hand (HP:0009802) | 1.89223986 |
| 135 | Mitochondrial inheritance (HP:0001427) | 1.88072010 |
| 136 | Sleep apnea (HP:0010535) | 1.86715161 |
| 137 | Inability to walk (HP:0002540) | 1.86059649 |
| 138 | Specific learning disability (HP:0001328) | 1.85219402 |
| 139 | Tented upper lip vermilion (HP:0010804) | 1.84563541 |
| 140 | Abnormality of the renal collecting system (HP:0004742) | 1.83967596 |
| 141 | Abnormality of the phalanges of the 5th finger (HP:0004213) | 1.83038909 |
| 142 | Abnormal hair whorl (HP:0010721) | 1.82599693 |
| 143 | Postaxial foot polydactyly (HP:0001830) | 1.82344697 |
| 144 | Dysdiadochokinesis (HP:0002075) | 1.81649469 |
| 145 | Progressive macrocephaly (HP:0004481) | 1.81609522 |
| 146 | Abnormality of the phalanges of the 2nd finger (HP:0009541) | 1.81522877 |
| 147 | Dry hair (HP:0011359) | 1.81520708 |
| 148 | Decreased lacrimation (HP:0000633) | 1.80997143 |
| 149 | Abnormality of dental color (HP:0011073) | 1.80404052 |
| 150 | Reduced antithrombin III activity (HP:0001976) | 1.80179905 |
| 151 | Increased hepatocellular lipid droplets (HP:0006565) | 1.80169081 |
| 152 | Ectopic kidney (HP:0000086) | 1.79943860 |
| 153 | Preaxial hand polydactyly (HP:0001177) | 1.79880407 |
| 154 | Nasolacrimal duct obstruction (HP:0000579) | 1.79248770 |
| 155 | Protruding tongue (HP:0010808) | 1.78560280 |
| 156 | Abnormal rod and cone electroretinograms (HP:0008323) | 1.78338069 |
| 157 | Genital tract atresia (HP:0001827) | 1.76465309 |
| 158 | Vaginal atresia (HP:0000148) | 1.76128759 |
| 159 | Abnormality of binocular vision (HP:0011514) | 1.74611857 |
| 160 | Diplopia (HP:0000651) | 1.74611857 |
| 161 | Generalized tonic-clonic seizures (HP:0002069) | 1.73864248 |
| 162 | Severe visual impairment (HP:0001141) | 1.73422674 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | CASK | 7.91975369 |
| 2 | TNIK | 4.46335618 |
| 3 | MUSK | 2.99365289 |
| 4 | FRK | 2.83187932 |
| 5 | MKNK2 | 2.78527581 |
| 6 | MAP2K7 | 2.36083278 |
| 7 | WNK3 | 2.24364000 |
| 8 | NTRK3 | 2.23972254 |
| 9 | EPHA4 | 2.05661389 |
| 10 | EPHA3 | 2.03622550 |
| 11 | PRPF4B | 2.02679544 |
| 12 | MAP4K2 | 1.93431010 |
| 13 | MAP3K12 | 1.74740301 |
| 14 | CDK19 | 1.73841363 |
| 15 | NUAK1 | 1.70999913 |
| 16 | TLK1 | 1.70698743 |
| 17 | MAPK13 | 1.68010872 |
| 18 | STK16 | 1.67249336 |
| 19 | FES | 1.57507773 |
| 20 | PAK6 | 1.50214194 |
| 21 | TRIM28 | 1.47198817 |
| 22 | TAOK3 | 1.44357993 |
| 23 | BCKDK | 1.43820555 |
| 24 | MKNK1 | 1.43340984 |
| 25 | PRKD2 | 1.37968227 |
| 26 | ERBB3 | 1.37530324 |
| 27 | YES1 | 1.36650607 |
| 28 | OXSR1 | 1.35981906 |
| 29 | IRAK2 | 1.31117988 |
| 30 | DYRK3 | 1.29196630 |
| 31 | NTRK2 | 1.29155303 |
| 32 | CLK1 | 1.29150413 |
| 33 | CDK3 | 1.22420137 |
| 34 | STK39 | 1.18945870 |
| 35 | MARK1 | 1.17056988 |
| 36 | FGR | 1.13881082 |
| 37 | ADRBK2 | 1.12463412 |
| 38 | NEK6 | 1.09627102 |
| 39 | PHKG2 | 1.07526561 |
| 40 | PHKG1 | 1.07526561 |
| 41 | IRAK1 | 1.07004566 |
| 42 | BMPR2 | 1.06892375 |
| 43 | NLK | 1.04973138 |
| 44 | ZAK | 1.04607553 |
| 45 | IRAK3 | 1.03986319 |
| 46 | IRAK4 | 1.01818221 |
| 47 | UHMK1 | 1.01700535 |
| 48 | CAMK2B | 1.01342486 |
| 49 | BMPR1B | 0.99469369 |
| 50 | ACVR1B | 0.98910391 |
| 51 | AKT3 | 0.96424756 |
| 52 | PRKD3 | 0.95304832 |
| 53 | CAMK2A | 0.93806504 |
| 54 | PKN1 | 0.92889630 |
| 55 | EIF2AK3 | 0.90708702 |
| 56 | MAP3K4 | 0.90638590 |
| 57 | GRK7 | 0.90457853 |
| 58 | WNK4 | 0.89311711 |
| 59 | EIF2AK2 | 0.85483005 |
| 60 | RIPK4 | 0.83519807 |
| 61 | GRK5 | 0.82464754 |
| 62 | STK38 | 0.82078676 |
| 63 | INSRR | 0.80899643 |
| 64 | RPS6KA4 | 0.79716669 |
| 65 | MST4 | 0.79669312 |
| 66 | TXK | 0.77854215 |
| 67 | PAK3 | 0.77764247 |
| 68 | SGK223 | 0.76191928 |
| 69 | SGK494 | 0.76191928 |
| 70 | DYRK1A | 0.74542120 |
| 71 | MAPK15 | 0.73983825 |
| 72 | BLK | 0.73478226 |
| 73 | SGK2 | 0.72452129 |
| 74 | PLK2 | 0.72143855 |
| 75 | PRKCE | 0.70814679 |
| 76 | PBK | 0.69765478 |
| 77 | CAMKK2 | 0.66393737 |
| 78 | PRKCG | 0.65322202 |
| 79 | CDK5 | 0.64381170 |
| 80 | FGFR2 | 0.63791380 |
| 81 | GRK1 | 0.63767031 |
| 82 | CAMK1 | 0.63353959 |
| 83 | TNK2 | 0.62176557 |
| 84 | MAPKAPK5 | 0.61972034 |
| 85 | DYRK2 | 0.61142280 |
| 86 | STK11 | 0.60403826 |
| 87 | PLK4 | 0.58266144 |
| 88 | BCR | 0.57546268 |
| 89 | CAMK2D | 0.56022960 |
| 90 | MINK1 | 0.55789965 |
| 91 | MAP2K4 | 0.55160433 |
| 92 | SRPK1 | 0.54168985 |
| 93 | CSNK1G1 | 0.53478128 |
| 94 | NEK9 | 0.51891442 |
| 95 | ERBB2 | 0.51047125 |
| 96 | ADRBK1 | 0.50948770 |
| 97 | CDK9 | 0.50946277 |
| 98 | RPS6KA5 | 0.50514993 |
| 99 | PNCK | 0.50373302 |
| 100 | NME1 | 0.48573512 |
| 101 | CAMK2G | 0.46762472 |
| 102 | VRK1 | 0.45398052 |
| 103 | MAP2K1 | 0.44992766 |
| 104 | CSNK1D | 0.44363874 |
| 105 | DAPK2 | 0.42481515 |
| 106 | ERBB4 | 0.42054770 |
| 107 | PRKG1 | 0.41446236 |
| 108 | PRKACA | 0.40922604 |
| 109 | HIPK2 | 0.40598527 |
| 110 | CCNB1 | 0.40358876 |
| 111 | SIK3 | 0.39945939 |
| 112 | CSNK1G2 | 0.39406775 |
| 113 | CAMK4 | 0.39095541 |
| 114 | MAPK12 | 0.38821257 |
| 115 | CSNK1G3 | 0.37551776 |
| 116 | PRKCA | 0.36605749 |
| 117 | IGF1R | 0.35243346 |
| 118 | CSNK1A1L | 0.33878541 |
| 119 | SGK1 | 0.33398143 |
| 120 | PRKCI | 0.33117973 |
| 121 | TEC | 0.32872777 |
| 122 | PINK1 | 0.32782986 |
| 123 | ROCK1 | 0.31935887 |
| 124 | NME2 | 0.31554427 |
| 125 | FER | 0.31374690 |
| 126 | PRKCZ | 0.31347044 |
| 127 | TIE1 | 0.31086164 |
| 128 | RPS6KA3 | 0.30795829 |
| 129 | PRKCQ | 0.30683344 |
| 130 | MAPKAPK3 | 0.30193971 |
| 131 | LYN | 0.30055783 |
| 132 | MAPK7 | 0.29867811 |
| 133 | SGK3 | 0.29084022 |
| 134 | CSNK1A1 | 0.29075623 |
| 135 | MARK2 | 0.26583579 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Nicotine addiction_Homo sapiens_hsa05033 | 4.27186174 |
| 2 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 3.23254855 |
| 3 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 2.52498970 |
| 4 | Phototransduction_Homo sapiens_hsa04744 | 2.48899348 |
| 5 | Nitrogen metabolism_Homo sapiens_hsa00910 | 2.48514749 |
| 6 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 2.43889710 |
| 7 | Morphine addiction_Homo sapiens_hsa05032 | 2.41591997 |
| 8 | Glutamatergic synapse_Homo sapiens_hsa04724 | 2.35612584 |
| 9 | GABAergic synapse_Homo sapiens_hsa04727 | 2.23053780 |
| 10 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 2.15449603 |
| 11 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.05890637 |
| 12 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.97504842 |
| 13 | Taste transduction_Homo sapiens_hsa04742 | 1.96154842 |
| 14 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 1.92407929 |
| 15 | Circadian entrainment_Homo sapiens_hsa04713 | 1.86417040 |
| 16 | Long-term depression_Homo sapiens_hsa04730 | 1.82960706 |
| 17 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 1.81016188 |
| 18 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.76936010 |
| 19 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 1.69962792 |
| 20 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.69272481 |
| 21 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.68933332 |
| 22 | Olfactory transduction_Homo sapiens_hsa04740 | 1.62391562 |
| 23 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.60446541 |
| 24 | Salivary secretion_Homo sapiens_hsa04970 | 1.58274630 |
| 25 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.51049186 |
| 26 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 1.49269265 |
| 27 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.45812722 |
| 28 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.44733371 |
| 29 | Axon guidance_Homo sapiens_hsa04360 | 1.44506555 |
| 30 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.43475996 |
| 31 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.41827168 |
| 32 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 1.41535919 |
| 33 | Long-term potentiation_Homo sapiens_hsa04720 | 1.38626546 |
| 34 | Alzheimers disease_Homo sapiens_hsa05010 | 1.37882046 |
| 35 | Protein export_Homo sapiens_hsa03060 | 1.35914979 |
| 36 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.35487749 |
| 37 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 1.27894824 |
| 38 | Dopaminergic synapse_Homo sapiens_hsa04728 | 1.25122136 |
| 39 | Parkinsons disease_Homo sapiens_hsa05012 | 1.22972712 |
| 40 | Cholinergic synapse_Homo sapiens_hsa04725 | 1.21876897 |
| 41 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 1.21451067 |
| 42 | Peroxisome_Homo sapiens_hsa04146 | 1.17473478 |
| 43 | Insulin secretion_Homo sapiens_hsa04911 | 1.16011415 |
| 44 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.15420777 |
| 45 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.11560688 |
| 46 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.08409079 |
| 47 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 1.08028018 |
| 48 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.07523004 |
| 49 | Renin secretion_Homo sapiens_hsa04924 | 1.03396487 |
| 50 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.03209135 |
| 51 | Cocaine addiction_Homo sapiens_hsa05030 | 1.03121144 |
| 52 | Ribosome_Homo sapiens_hsa03010 | 1.02689682 |
| 53 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.02668167 |
| 54 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.01789938 |
| 55 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.01713823 |
| 56 | Huntingtons disease_Homo sapiens_hsa05016 | 1.01192908 |
| 57 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.99876069 |
| 58 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.99538267 |
| 59 | Other glycan degradation_Homo sapiens_hsa00511 | 0.99527736 |
| 60 | Retinol metabolism_Homo sapiens_hsa00830 | 0.99292438 |
| 61 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.98571817 |
| 62 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.97676576 |
| 63 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.96793462 |
| 64 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.96539633 |
| 65 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.96319240 |
| 66 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.95899760 |
| 67 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.95151917 |
| 68 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.95033204 |
| 69 | Melanogenesis_Homo sapiens_hsa04916 | 0.94717772 |
| 70 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.93011158 |
| 71 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.92678200 |
| 72 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.92281821 |
| 73 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.89202629 |
| 74 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.87517040 |
| 75 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.84016830 |
| 76 | Histidine metabolism_Homo sapiens_hsa00340 | 0.83856063 |
| 77 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.83005046 |
| 78 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.81970649 |
| 79 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.81445478 |
| 80 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.80471720 |
| 81 | Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750 | 0.80219069 |
| 82 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.78239179 |
| 83 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.77238980 |
| 84 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.77135251 |
| 85 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.75686990 |
| 86 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.73496737 |
| 87 | RNA degradation_Homo sapiens_hsa03018 | 0.72252315 |
| 88 | Ras signaling pathway_Homo sapiens_hsa04014 | 0.70398878 |
| 89 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.70324047 |
| 90 | Gap junction_Homo sapiens_hsa04540 | 0.70142893 |
| 91 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.68883646 |
| 92 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.67844324 |
| 93 | Circadian rhythm_Homo sapiens_hsa04710 | 0.67767406 |
| 94 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.67657421 |
| 95 | Allograft rejection_Homo sapiens_hsa05330 | 0.65829846 |
| 96 | Asthma_Homo sapiens_hsa05310 | 0.64892411 |
| 97 | RNA polymerase_Homo sapiens_hsa03020 | 0.64164631 |
| 98 | African trypanosomiasis_Homo sapiens_hsa05143 | 0.63342942 |
| 99 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.60285697 |
| 100 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.60125496 |
| 101 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.59789970 |
| 102 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.59515194 |
| 103 | Basal transcription factors_Homo sapiens_hsa03022 | 0.58875414 |
| 104 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.58374654 |
| 105 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.58366139 |
| 106 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.56777014 |
| 107 | Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650 | 0.55974031 |
| 108 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.55693308 |
| 109 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.54941960 |
| 110 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.54352097 |
| 111 | ABC transporters_Homo sapiens_hsa02010 | 0.54267225 |
| 112 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.52385729 |
| 113 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.52268520 |
| 114 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.52032983 |
| 115 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.51735249 |
| 116 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 0.51338344 |
| 117 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 0.50897301 |
| 118 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.50439186 |
| 119 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.49786481 |
| 120 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.49595153 |
| 121 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.48721326 |
| 122 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.48491393 |
| 123 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.48476527 |
| 124 | Alcoholism_Homo sapiens_hsa05034 | 0.48301644 |
| 125 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.47465204 |
| 126 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 0.47157939 |
| 127 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.46633147 |
| 128 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.43949529 |
| 129 | Homologous recombination_Homo sapiens_hsa03440 | 0.43876829 |
| 130 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.43753236 |
| 131 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.42265928 |
| 132 | Sulfur relay system_Homo sapiens_hsa04122 | 0.41470883 |
| 133 | Phagosome_Homo sapiens_hsa04145 | 0.40445599 |
| 134 | Melanoma_Homo sapiens_hsa05218 | 0.40423908 |
| 135 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.39829432 |
| 136 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.39240381 |
| 137 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.38274849 |
| 138 | Malaria_Homo sapiens_hsa05144 | 0.38219159 |
| 139 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 0.34948179 |
| 140 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.34847715 |
| 141 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.34412924 |
| 142 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.33870189 |
| 143 | Mineral absorption_Homo sapiens_hsa04978 | 0.33529186 |

