

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | detection of light stimulus involved in visual perception (GO:0050908) | 9.97132691 |
| 2 | detection of light stimulus involved in sensory perception (GO:0050962) | 9.97132691 |
| 3 | retinal rod cell development (GO:0046548) | 8.37650740 |
| 4 | negative regulation of cytosolic calcium ion concentration (GO:0051481) | 7.63952087 |
| 5 | G-protein coupled glutamate receptor signaling pathway (GO:0007216) | 6.36107118 |
| 6 | cellular potassium ion homeostasis (GO:0030007) | 6.34454515 |
| 7 | gamma-aminobutyric acid signaling pathway (GO:0007214) | 6.03865721 |
| 8 | response to pheromone (GO:0019236) | 5.91417895 |
| 9 | relaxation of smooth muscle (GO:0044557) | 5.81681067 |
| 10 | sodium ion export (GO:0071436) | 5.72624932 |
| 11 | protein localization to synapse (GO:0035418) | 5.67273369 |
| 12 | synaptic vesicle endocytosis (GO:0048488) | 5.66387985 |
| 13 | positive regulation of synapse maturation (GO:0090129) | 5.58524652 |
| 14 | rhodopsin mediated signaling pathway (GO:0016056) | 5.36094327 |
| 15 | potassium ion homeostasis (GO:0055075) | 5.32415305 |
| 16 | urinary tract smooth muscle contraction (GO:0014848) | 5.31892503 |
| 17 | retinal cone cell development (GO:0046549) | 5.31730230 |
| 18 | amino acid import (GO:0043090) | 5.19360512 |
| 19 | positive regulation of synaptic transmission, dopaminergic (GO:0032226) | 5.07812847 |
| 20 | photoreceptor cell development (GO:0042461) | 5.07106093 |
| 21 | eye photoreceptor cell development (GO:0042462) | 4.92828610 |
| 22 | locomotory exploration behavior (GO:0035641) | 4.65422386 |
| 23 | cell communication by electrical coupling involved in cardiac conduction (GO:0086064) | 4.63809786 |
| 24 | regulation of inhibitory postsynaptic membrane potential (GO:0060080) | 4.63332589 |
| 25 | regulation of rhodopsin mediated signaling pathway (GO:0022400) | 4.63168039 |
| 26 | regulation of synaptic vesicle exocytosis (GO:2000300) | 4.51678375 |
| 27 | innervation (GO:0060384) | 4.51440176 |
| 28 | positive regulation of calcium ion-dependent exocytosis (GO:0045956) | 4.44172764 |
| 29 | * synaptic vesicle exocytosis (GO:0016079) | 4.37903363 |
| 30 | regulation of synapse maturation (GO:0090128) | 4.30186106 |
| 31 | photoreceptor cell maintenance (GO:0045494) | 4.29246748 |
| 32 | mating behavior (GO:0007617) | 4.27223882 |
| 33 | regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371) | 4.24818510 |
| 34 | regulation of short-term neuronal synaptic plasticity (GO:0048172) | 4.13293143 |
| 35 | regulation of catecholamine uptake involved in synaptic transmission (GO:0051940) | 4.12608835 |
| 36 | regulation of dopamine uptake involved in synaptic transmission (GO:0051584) | 4.12608835 |
| 37 | positive regulation of excitatory postsynaptic membrane potential (GO:2000463) | 4.11808661 |
| 38 | mitotic cell cycle arrest (GO:0071850) | 4.10244001 |
| 39 | regulation of neuronal synaptic plasticity (GO:0048168) | 4.07852717 |
| 40 | synaptic vesicle maturation (GO:0016188) | 4.01443826 |
| 41 | striatum development (GO:0021756) | 4.00157204 |
| 42 | regulation of voltage-gated calcium channel activity (GO:1901385) | 3.96196071 |
| 43 | neuronal action potential propagation (GO:0019227) | 3.94343171 |
| 44 | synaptic vesicle docking involved in exocytosis (GO:0016081) | 3.92331510 |
| 45 | cell communication by electrical coupling (GO:0010644) | 3.90906823 |
| 46 | cerebellar granule cell differentiation (GO:0021707) | 3.89775104 |
| 47 | regulation of cell communication by electrical coupling (GO:0010649) | 3.89681102 |
| 48 | gamma-aminobutyric acid transport (GO:0015812) | 3.84790899 |
| 49 | neuronal ion channel clustering (GO:0045161) | 3.82795468 |
| 50 | cellular sodium ion homeostasis (GO:0006883) | 3.80181280 |
| 51 | ionotropic glutamate receptor signaling pathway (GO:0035235) | 3.78465037 |
| 52 | regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307) | 3.77290385 |
| 53 | neurotransmitter-gated ion channel clustering (GO:0072578) | 3.76367051 |
| 54 | regulation of long-term neuronal synaptic plasticity (GO:0048169) | 3.75344019 |
| 55 | negative regulation of synaptic transmission, GABAergic (GO:0032229) | 3.75201540 |
| 56 | visual perception (GO:0007601) | 3.72049354 |
| 57 | regulation of synaptic vesicle transport (GO:1902803) | 3.71475711 |
| 58 | sensory perception of light stimulus (GO:0050953) | 3.70203962 |
| 59 | exploration behavior (GO:0035640) | 3.69540064 |
| 60 | potassium ion import (GO:0010107) | 3.69396312 |
| 61 | regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310) | 3.64045242 |
| 62 | substrate-independent telencephalic tangential interneuron migration (GO:0021843) | 3.61452648 |
| 63 | substrate-independent telencephalic tangential migration (GO:0021826) | 3.61452648 |
| 64 | glutamate secretion (GO:0014047) | 3.60012060 |
| 65 | calcium ion import (GO:0070509) | 3.58549718 |
| 66 | membrane depolarization during cardiac muscle cell action potential (GO:0086012) | 3.58364523 |
| 67 | detection of light stimulus (GO:0009583) | 3.56302686 |
| 68 | protein-chromophore linkage (GO:0018298) | 3.53901742 |
| 69 | regulation of glutamate receptor signaling pathway (GO:1900449) | 3.52485220 |
| 70 | positive regulation of dendritic spine morphogenesis (GO:0061003) | 3.51838698 |
| 71 | neuromuscular process controlling balance (GO:0050885) | 3.50292610 |
| 72 | GMP metabolic process (GO:0046037) | 3.48830104 |
| 73 | membrane hyperpolarization (GO:0060081) | 3.48556718 |
| 74 | detection of visible light (GO:0009584) | 3.48056207 |
| 75 | cell communication involved in cardiac conduction (GO:0086065) | 3.47841758 |
| 76 | membrane depolarization during action potential (GO:0086010) | 3.47396403 |
| 77 | vocalization behavior (GO:0071625) | 3.47170553 |
| 78 | peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800) | 3.47048472 |
| 79 | dendritic spine morphogenesis (GO:0060997) | 3.46485813 |
| 80 | response to histamine (GO:0034776) | 3.46407705 |
| 81 | behavioral response to cocaine (GO:0048148) | 3.46227314 |
| 82 | positive regulation of membrane potential (GO:0045838) | 3.44322573 |
| 83 | glutamate receptor signaling pathway (GO:0007215) | 3.44000966 |
| 84 | activation of protein kinase A activity (GO:0034199) | 3.41814952 |
| 85 | negative regulation of synaptic transmission, glutamatergic (GO:0051967) | 3.41558057 |
| 86 | regulation of synaptic transmission, glutamatergic (GO:0051966) | 3.41219140 |
| 87 | synaptic transmission, glutamatergic (GO:0035249) | 3.38605822 |
| 88 | long term synaptic depression (GO:0060292) | 3.34896767 |
| 89 | regulation of membrane repolarization (GO:0060306) | 3.33978654 |
| 90 | glycolytic process (GO:0006096) | 3.31036813 |
| 91 | potassium ion export (GO:0071435) | 3.30332936 |
| 92 | regulation of neurotransmitter uptake (GO:0051580) | 3.30165338 |
| 93 | long-term memory (GO:0007616) | 3.29187456 |
| 94 | dendritic spine organization (GO:0097061) | 3.28165074 |
| 95 | regulation of respiratory gaseous exchange by neurological system process (GO:0002087) | 3.26568392 |
| 96 | behavioral defense response (GO:0002209) | 3.25951663 |
| 97 | behavioral fear response (GO:0001662) | 3.25951663 |
| 98 | long-term synaptic potentiation (GO:0060291) | 3.25645201 |
| 99 | nonmotile primary cilium assembly (GO:0035058) | 3.25514491 |
| 100 | regulation of cardiac muscle cell contraction (GO:0086004) | 3.24220568 |
| 101 | neurotransmitter secretion (GO:0007269) | 3.24111995 |
| 102 | regulation of excitatory postsynaptic membrane potential (GO:0060079) | 3.23370263 |
| 103 | regulation of neurotransmitter levels (GO:0001505) | 3.22553907 |
| 104 | regulation of synapse structural plasticity (GO:0051823) | 3.22185206 |
| 105 | * regulation of neurotransmitter secretion (GO:0046928) | 3.20347301 |
| 106 | detection of temperature stimulus involved in sensory perception of pain (GO:0050965) | 3.19952787 |
| 107 | detection of temperature stimulus involved in sensory perception (GO:0050961) | 3.19952787 |
| 108 | cerebellar Purkinje cell differentiation (GO:0021702) | 3.16934290 |
| 109 | axon ensheathment in central nervous system (GO:0032291) | 3.16562262 |
| 110 | central nervous system myelination (GO:0022010) | 3.16562262 |
| 111 | regulation of synaptic plasticity (GO:0048167) | 3.15982275 |
| 112 | iron coordination entity transport (GO:1901678) | 3.15555059 |
| 113 | neuron-neuron synaptic transmission (GO:0007270) | 3.15155231 |
| 114 | * synaptic vesicle transport (GO:0048489) | 3.14635103 |
| 115 | * establishment of synaptic vesicle localization (GO:0097480) | 3.14635103 |
| 116 | regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO | 3.13860815 |
| 117 | prepulse inhibition (GO:0060134) | 3.12754719 |
| 118 | L-amino acid import (GO:0043092) | 3.12687045 |
| 119 | positive regulation of gastrulation (GO:2000543) | 3.11035032 |
| 120 | detection of calcium ion (GO:0005513) | 3.10289484 |
| 121 | peristalsis (GO:0030432) | 3.06633603 |
| 122 | cardiac conduction (GO:0061337) | 3.06617473 |
| 123 | regulation of ARF protein signal transduction (GO:0032012) | 3.05324202 |
| 124 | potassium ion transmembrane transport (GO:0071805) | 3.04133566 |
| 125 | cellular potassium ion transport (GO:0071804) | 3.04133566 |
| 126 | neurotransmitter transport (GO:0006836) | 3.03920032 |
| 127 | regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880) | 3.03900054 |
| 128 | neuromuscular synaptic transmission (GO:0007274) | 3.03647791 |
| 129 | synaptic transmission, dopaminergic (GO:0001963) | 3.03565061 |
| 130 | synapse assembly (GO:0007416) | 3.02478235 |
| 131 | regulation of postsynaptic membrane potential (GO:0060078) | 3.02279274 |
| 132 | regulation of vesicle fusion (GO:0031338) | 3.00010454 |
| 133 | retina development in camera-type eye (GO:0060041) | 2.98469683 |
| 134 | positive regulation of potassium ion transmembrane transport (GO:1901381) | 2.97975912 |
| 135 | positive regulation of synaptic transmission, glutamatergic (GO:0051968) | 2.97966609 |
| 136 | layer formation in cerebral cortex (GO:0021819) | 2.97369324 |
| 137 | axon cargo transport (GO:0008088) | 2.97342571 |
| 138 | regulation of actin filament-based movement (GO:1903115) | 2.97187499 |
| 139 | regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act | 2.95764224 |
| 140 | regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882) | 2.94781741 |
| 141 | behavioral response to ethanol (GO:0048149) | 2.94401228 |
| 142 | pyrimidine dimer repair (GO:0006290) | 2.93940886 |
| 143 | response to acidic pH (GO:0010447) | 2.92584969 |
| 144 | positive regulation of potassium ion transmembrane transporter activity (GO:1901018) | 2.92338804 |
| 145 | membrane repolarization (GO:0086009) | 2.91613950 |
| 146 | lactate metabolic process (GO:0006089) | 2.89637649 |
| 147 | membrane depolarization (GO:0051899) | 2.87235634 |
| 148 | fear response (GO:0042596) | 2.86644725 |
| 149 | proline transport (GO:0015824) | 2.86529683 |
| 150 | * regulation of neurotransmitter transport (GO:0051588) | 2.85857804 |
| 151 | vesicle docking involved in exocytosis (GO:0006904) | 2.85716307 |
| 152 | regulation of relaxation of muscle (GO:1901077) | 2.84551717 |
| 153 | regulation of dendritic spine morphogenesis (GO:0061001) | 2.83116788 |
| 154 | positive regulation of dendritic spine development (GO:0060999) | 2.81618406 |
| 155 | regulation of respiratory system process (GO:0044065) | 2.79214943 |
| 156 | transmission of nerve impulse (GO:0019226) | 2.73579090 |
| 157 | multicellular organismal signaling (GO:0035637) | 2.72021168 |
| 158 | cardiac muscle contraction (GO:0060048) | 2.71083870 |
| 159 | neuron cell-cell adhesion (GO:0007158) | 2.69172460 |
| 160 | positive regulation of catecholamine secretion (GO:0033605) | 2.68225346 |
| 161 | protein retention in ER lumen (GO:0006621) | 2.67661684 |
| 162 | regulation of respiratory gaseous exchange (GO:0043576) | 2.66596136 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | GBX2_23144817_ChIP-Seq_PC3_Human | 4.20596507 |
| 2 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.56379948 |
| 3 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 3.28824140 |
| 4 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.85707567 |
| 5 | REST_21632747_ChIP-Seq_MESCs_Mouse | 2.75102106 |
| 6 | SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 2.72765500 |
| 7 | SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 2.68294882 |
| 8 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.61054881 |
| 9 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 2.59434607 |
| 10 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 2.58521364 |
| 11 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.53901575 |
| 12 | DROSHA_22980978_ChIP-Seq_HELA_Human | 2.51019803 |
| 13 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 2.48385867 |
| 14 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 2.43970094 |
| 15 | SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 2.42021187 |
| 16 | * SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 2.39613902 |
| 17 | TAF15_26573619_Chip-Seq_HEK293_Human | 2.37689297 |
| 18 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 2.30745912 |
| 19 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 2.26736418 |
| 20 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.26012836 |
| 21 | RNF2_18974828_ChIP-Seq_MESCs_Mouse | 2.22497230 |
| 22 | EZH2_18974828_ChIP-Seq_MESCs_Mouse | 2.22497230 |
| 23 | AR_21572438_ChIP-Seq_LNCaP_Human | 2.20254769 |
| 24 | MTF2_20144788_ChIP-Seq_MESCs_Mouse | 2.19585110 |
| 25 | * REST_18959480_ChIP-ChIP_MESCs_Mouse | 2.19440988 |
| 26 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.17329997 |
| 27 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.13518395 |
| 28 | IKZF1_21737484_ChIP-ChIP_HCT116_Human | 2.12929880 |
| 29 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 2.12921355 |
| 30 | VDR_22108803_ChIP-Seq_LS180_Human | 2.12515505 |
| 31 | P53_22127205_ChIP-Seq_FIBROBLAST_Human | 2.10986730 |
| 32 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 2.07264038 |
| 33 | SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 2.05279328 |
| 34 | RNF2_27304074_Chip-Seq_ESCs_Mouse | 2.00891412 |
| 35 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.95565954 |
| 36 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.91534248 |
| 37 | RARB_27405468_Chip-Seq_BRAIN_Mouse | 1.91350643 |
| 38 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.78067325 |
| 39 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.72347978 |
| 40 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 1.71111410 |
| 41 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.68688785 |
| 42 | ERG_21242973_ChIP-ChIP_JURKAT_Human | 1.67382640 |
| 43 | FUS_26573619_Chip-Seq_HEK293_Human | 1.65807116 |
| 44 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 1.63256462 |
| 45 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 1.62765902 |
| 46 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.62224059 |
| 47 | SUZ12_18692474_ChIP-Seq_MEFs_Mouse | 1.58182786 |
| 48 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.58138510 |
| 49 | CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse | 1.54540530 |
| 50 | AR_25329375_ChIP-Seq_VCAP_Human | 1.52832063 |
| 51 | KDM2B_26808549_Chip-Seq_K562_Human | 1.51766743 |
| 52 | ZFP281_18757296_ChIP-ChIP_E14_Mouse | 1.51708090 |
| 53 | P300_19829295_ChIP-Seq_ESCs_Human | 1.51567268 |
| 54 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 1.50319676 |
| 55 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.48967683 |
| 56 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.48817361 |
| 57 | RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 1.47307032 |
| 58 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.43214485 |
| 59 | EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.40193420 |
| 60 | * CTCF_27219007_Chip-Seq_Bcells_Human | 1.39875220 |
| 61 | VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human | 1.38437569 |
| 62 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.38035870 |
| 63 | CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons | 1.36466477 |
| 64 | PHC1_16625203_ChIP-ChIP_MESCs_Mouse | 1.36317242 |
| 65 | ZNF263_19887448_ChIP-Seq_K562_Human | 1.33870625 |
| 66 | TET1_21490601_ChIP-Seq_MESCs_Mouse | 1.32816996 |
| 67 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.32815380 |
| 68 | ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 1.32367789 |
| 69 | AR_19668381_ChIP-Seq_PC3_Human | 1.32263932 |
| 70 | SMAD_19615063_ChIP-ChIP_OVARY_Human | 1.30323449 |
| 71 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.29403702 |
| 72 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.28463692 |
| 73 | RCOR2_21632747_ChIP-Seq_MESCs_Mouse | 1.28001235 |
| 74 | SMAD3_21741376_ChIP-Seq_HESCs_Human | 1.27968946 |
| 75 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.27685666 |
| 76 | WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 1.25134997 |
| 77 | TCF4_23295773_ChIP-Seq_U87_Human | 1.23284563 |
| 78 | TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse | 1.23012877 |
| 79 | GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.22859969 |
| 80 | STAT3_23295773_ChIP-Seq_U87_Human | 1.20712889 |
| 81 | * SMC4_20622854_ChIP-Seq_HELA_Human | 1.19636049 |
| 82 | EP300_21415370_ChIP-Seq_HL-1_Mouse | 1.19548900 |
| 83 | SOX2_21211035_ChIP-Seq_LN229_Gbm | 1.16436168 |
| 84 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.16344553 |
| 85 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 1.14611906 |
| 86 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.13871772 |
| 87 | CREB1_26743006_Chip-Seq_LNCaP_Human | 1.13833833 |
| 88 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.13326929 |
| 89 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.13326929 |
| 90 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.12554314 |
| 91 | GATA1_22025678_ChIP-Seq_K562_Human | 1.11453076 |
| 92 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.10346742 |
| 93 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.10208164 |
| 94 | RING1B_27294783_Chip-Seq_ESCs_Mouse | 1.09307708 |
| 95 | * EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human | 1.09250368 |
| 96 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.07421877 |
| 97 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.05870582 |
| 98 | YAP1_20516196_ChIP-Seq_MESCs_Mouse | 1.05800284 |
| 99 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.04912086 |
| 100 | * PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 1.04355853 |
| 101 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.03377004 |
| 102 | NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse | 1.02790568 |
| 103 | SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.02557642 |
| 104 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.02212025 |
| 105 | RCOR3_21632747_ChIP-Seq_MESCs_Mouse | 1.02075561 |
| 106 | ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 0.99488504 |
| 107 | SOX9_26525672_Chip-Seq_HEART_Mouse | 0.99258630 |
| 108 | CREB1_26743006_Chip-Seq_LNCaP-abl_Human | 0.98953726 |
| 109 | * MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 0.98272167 |
| 110 | LXR_22292898_ChIP-Seq_THP-1_Human | 0.96683985 |
| 111 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 0.94232486 |
| 112 | * SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 0.94204629 |
| 113 | KDM2B_26808549_Chip-Seq_SUP-B15_Human | 0.93919076 |
| 114 | TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 0.93833212 |
| 115 | OCT4_19829295_ChIP-Seq_ESCs_Human | 0.93292187 |
| 116 | JUN_21703547_ChIP-Seq_K562_Human | 0.92982593 |
| 117 | KDM2B_26808549_Chip-Seq_DND41_Human | 0.92721000 |
| 118 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.92259003 |
| 119 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 0.92259003 |
| 120 | AHR_22903824_ChIP-Seq_MCF-7_Human | 0.91995212 |
| 121 | ZFP281_27345836_Chip-Seq_ESCs_Mouse | 0.91525986 |
| 122 | EGR1_19032775_ChIP-ChIP_M12_Human | 0.91406774 |
| 123 | TP53_20018659_ChIP-ChIP_R1E_Mouse | 0.90334624 |
| 124 | DNAJC2_21179169_ChIP-ChIP_NT2_Human | 0.89741451 |
| 125 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 0.89665821 |
| 126 | RING1B_27294783_Chip-Seq_NPCs_Mouse | 0.89464321 |
| 127 | WT1_25993318_ChIP-Seq_PODOCYTE_Human | 0.89281666 |
| 128 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 0.89160804 |
| 129 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 0.87622145 |
| 130 | SMAD3_22036565_ChIP-Seq_ESCs_Mouse | 0.87556777 |
| 131 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 0.87500396 |
| 132 | CLOCK_20551151_ChIP-Seq_293T_Human | 0.87290105 |
| 133 | KDM2B_26808549_Chip-Seq_REH_Human | 0.86990303 |
| 134 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 0.86558732 |
| 135 | BCAT_22108803_ChIP-Seq_LS180_Human | 0.86542826 |
| 136 | NR3C1_23031785_ChIP-Seq_PC12_Mouse | 0.86335234 |
| 137 | TRIM28_17542650_ChIP-ChIP_NTERA2_Human | 0.86226317 |
| 138 | * OLIG2_26023283_ChIP-Seq_AINV15_Mouse | 0.86093985 |
| 139 | TCF4_22108803_ChIP-Seq_LS180_Human | 0.85728832 |
| 140 | OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 0.85560590 |
| 141 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 0.83957795 |
| 142 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 0.83585738 |
| 143 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 0.81862528 |
| 144 | TFAP2A_17053090_ChIP-ChIP_MCF-7_Human | 0.77151468 |
| 145 | PKCTHETA_26484144_Chip-Seq_BREAST_Human | 0.75043002 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | * MP0005551_abnormal_eye_electrophysiolog | 6.59566868 |
| 2 | MP0006072_abnormal_retinal_apoptosis | 4.78912758 |
| 3 | MP0001984_abnormal_olfaction | 4.31293933 |
| 4 | MP0005253_abnormal_eye_physiology | 3.62977851 |
| 5 | MP0003011_delayed_dark_adaptation | 3.51590417 |
| 6 | MP0001502_abnormal_circadian_rhythm | 3.01035137 |
| 7 | * MP0002090_abnormal_vision | 2.94492900 |
| 8 | MP0006292_abnormal_olfactory_placode | 2.92318375 |
| 9 | MP0003941_abnormal_skin_development | 2.78385718 |
| 10 | MP0004233_abnormal_muscle_weight | 2.65993688 |
| 11 | MP0003880_abnormal_central_pattern | 2.59850306 |
| 12 | * MP0005195_abnormal_posterior_eye | 2.56989229 |
| 13 | MP0003635_abnormal_synaptic_transmissio | 2.46535142 |
| 14 | MP0004859_abnormal_synaptic_plasticity | 2.38093303 |
| 15 | MP0009046_muscle_twitch | 2.36618037 |
| 16 | MP0003950_abnormal_plasma_membrane | 2.29132277 |
| 17 | MP0002638_abnormal_pupillary_reflex | 2.25293638 |
| 18 | MP0002734_abnormal_mechanical_nocicepti | 2.22974141 |
| 19 | MP0003646_muscle_fatigue | 2.20982478 |
| 20 | MP0002272_abnormal_nervous_system | 2.14237664 |
| 21 | MP0002064_seizures | 2.13783752 |
| 22 | MP0002063_abnormal_learning/memory/cond | 2.12344575 |
| 23 | MP0001968_abnormal_touch/_nociception | 2.11298185 |
| 24 | MP0001486_abnormal_startle_reflex | 2.05118967 |
| 25 | MP0001188_hyperpigmentation | 1.99546730 |
| 26 | MP0009745_abnormal_behavioral_response | 1.94590660 |
| 27 | MP0002229_neurodegeneration | 1.90102879 |
| 28 | MP0010386_abnormal_urinary_bladder | 1.82367843 |
| 29 | MP0002736_abnormal_nociception_after | 1.79801356 |
| 30 | MP0002067_abnormal_sensory_capabilities | 1.77701915 |
| 31 | MP0005394_taste/olfaction_phenotype | 1.76468078 |
| 32 | MP0005499_abnormal_olfactory_system | 1.76468078 |
| 33 | MP0002572_abnormal_emotion/affect_behav | 1.75591592 |
| 34 | MP0002735_abnormal_chemical_nociception | 1.70091460 |
| 35 | MP0001324_abnormal_eye_pigmentation | 1.68036380 |
| 36 | MP0004782_abnormal_surfactant_physiolog | 1.67692034 |
| 37 | MP0002184_abnormal_innervation | 1.67529070 |
| 38 | MP0005423_abnormal_somatic_nervous | 1.65169718 |
| 39 | MP0003315_abnormal_perineum_morphology | 1.62732980 |
| 40 | MP0004036_abnormal_muscle_relaxation | 1.61354322 |
| 41 | MP0005248_abnormal_Harderian_gland | 1.60695744 |
| 42 | MP0008004_abnormal_stomach_pH | 1.57686340 |
| 43 | MP0005391_vision/eye_phenotype | 1.56774854 |
| 44 | * MP0002752_abnormal_somatic_nervous | 1.56503277 |
| 45 | MP0008789_abnormal_olfactory_epithelium | 1.55428946 |
| 46 | MP0000516_abnormal_urinary_system | 1.52764525 |
| 47 | MP0005367_renal/urinary_system_phenotyp | 1.52764525 |
| 48 | MP0001346_abnormal_lacrimal_gland | 1.51477028 |
| 49 | MP0004084_abnormal_cardiac_muscle | 1.50720307 |
| 50 | MP0002733_abnormal_thermal_nociception | 1.49058150 |
| 51 | MP0004215_abnormal_myocardial_fiber | 1.47703550 |
| 52 | MP0003879_abnormal_hair_cell | 1.43482238 |
| 53 | * MP0002882_abnormal_neuron_morphology | 1.41599217 |
| 54 | MP0004270_analgesia | 1.40775882 |
| 55 | MP0008775_abnormal_heart_ventricle | 1.40753177 |
| 56 | MP0008569_lethality_at_weaning | 1.37443932 |
| 57 | MP0001529_abnormal_vocalization | 1.34792972 |
| 58 | MP0010030_abnormal_orbit_morphology | 1.32645143 |
| 59 | MP0003787_abnormal_imprinting | 1.31758851 |
| 60 | MP0004142_abnormal_muscle_tone | 1.30136217 |
| 61 | MP0001501_abnormal_sleep_pattern | 1.29102467 |
| 62 | MP0002234_abnormal_pharynx_morphology | 1.27021084 |
| 63 | MP0000631_abnormal_neuroendocrine_gland | 1.25718680 |
| 64 | MP0002653_abnormal_ependyma_morphology | 1.23221558 |
| 65 | MP0001905_abnormal_dopamine_level | 1.22422717 |
| 66 | MP0005167_abnormal_blood-brain_barrier | 1.19783179 |
| 67 | MP0004510_myositis | 1.19476370 |
| 68 | MP0002332_abnormal_exercise_endurance | 1.19429150 |
| 69 | MP0002009_preneoplasia | 1.16715824 |
| 70 | MP0004484_altered_response_of | 1.16128421 |
| 71 | MP0002909_abnormal_adrenal_gland | 1.13521533 |
| 72 | MP0001970_abnormal_pain_threshold | 1.12938706 |
| 73 | MP0008874_decreased_physiological_sensi | 1.12714403 |
| 74 | MP0000920_abnormal_myelination | 1.11394422 |
| 75 | MP0003183_abnormal_peptide_metabolism | 1.09399203 |
| 76 | MP0005595_abnormal_vascular_smooth | 1.08476562 |
| 77 | MP0002557_abnormal_social/conspecific_i | 1.03891633 |
| 78 | MP0005187_abnormal_penis_morphology | 1.01416212 |
| 79 | MP0002822_catalepsy | 1.00392158 |
| 80 | MP0001177_atelectasis | 0.99947489 |
| 81 | MP0000955_abnormal_spinal_cord | 0.99367518 |
| 82 | MP0004811_abnormal_neuron_physiology | 0.98838805 |
| 83 | MP0000749_muscle_degeneration | 0.96656224 |
| 84 | MP0005623_abnormal_meninges_morphology | 0.96168429 |
| 85 | MP0002837_dystrophic_cardiac_calcinosis | 0.95494351 |
| 86 | MP0000751_myopathy | 0.95019341 |
| 87 | MP0003690_abnormal_glial_cell | 0.91697901 |
| 88 | MP0001542_abnormal_bone_strength | 0.91255072 |
| 89 | MP0003634_abnormal_glial_cell | 0.90950780 |
| 90 | MP0005670_abnormal_white_adipose | 0.90199341 |
| 91 | MP0002066_abnormal_motor_capabilities/c | 0.87829191 |
| 92 | MP0004145_abnormal_muscle_electrophysio | 0.87304373 |
| 93 | MP0005535_abnormal_body_temperature | 0.86565217 |
| 94 | MP0001986_abnormal_taste_sensitivity | 0.86219877 |
| 95 | MP0004924_abnormal_behavior | 0.84967057 |
| 96 | MP0005386_behavior/neurological_phenoty | 0.84967057 |
| 97 | MP0004085_abnormal_heartbeat | 0.83723489 |
| 98 | MP0004087_abnormal_muscle_fiber | 0.81782802 |
| 99 | MP0000778_abnormal_nervous_system | 0.81656930 |
| 100 | MP0000537_abnormal_urethra_morphology | 0.80378563 |
| 101 | MP0006276_abnormal_autonomic_nervous | 0.79557339 |
| 102 | MP0003633_abnormal_nervous_system | 0.76540482 |
| 103 | MP0002972_abnormal_cardiac_muscle | 0.75164974 |
| 104 | MP0003632_abnormal_nervous_system | 0.73940675 |
| 105 | MP0003137_abnormal_impulse_conducting | 0.73318137 |
| 106 | MP0005330_cardiomyopathy | 0.73279237 |
| 107 | MP0000747_muscle_weakness | 0.73089541 |
| 108 | MP0001440_abnormal_grooming_behavior | 0.72311026 |
| 109 | MP0003123_paternal_imprinting | 0.72273832 |
| 110 | MP0001664_abnormal_digestion | 0.72104361 |
| 111 | MP0008872_abnormal_physiological_respon | 0.71904266 |
| 112 | MP0002069_abnormal_eating/drinking_beha | 0.71488727 |
| 113 | MP0009697_abnormal_copulation | 0.71387865 |
| 114 | MP0008260_abnormal_autophagy | 0.71104276 |
| 115 | MP0005410_abnormal_fertilization | 0.68832583 |
| 116 | MP0002152_abnormal_brain_morphology | 0.67897364 |
| 117 | MP0001963_abnormal_hearing_physiology | 0.66887233 |
| 118 | MP0005620_abnormal_muscle_contractility | 0.66443587 |
| 119 | MP0004043_abnormal_pH_regulation | 0.64623216 |
| 120 | MP0003045_fibrosis | 0.64166409 |
| 121 | MP0004885_abnormal_endolymph | 0.64140205 |
| 122 | MP0006138_congestive_heart_failure | 0.63277688 |
| 123 | MP0005646_abnormal_pituitary_gland | 0.62239836 |
| 124 | MP0003890_abnormal_embryonic-extraembry | 0.61432819 |
| 125 | MP0005385_cardiovascular_system_phenoty | 0.60079638 |
| 126 | MP0001544_abnormal_cardiovascular_syste | 0.60079638 |
| 127 | MP0004742_abnormal_vestibular_system | 0.59554534 |
| 128 | MP0008877_abnormal_DNA_methylation | 0.58846551 |
| 129 | MP0000534_abnormal_ureter_morphology | 0.57376636 |
| 130 | MP0003868_abnormal_feces_composition | 0.55339879 |
| 131 | MP0000013_abnormal_adipose_tissue | 0.54869411 |
| 132 | MP0003631_nervous_system_phenotype | 0.53035128 |
| 133 | MP0002751_abnormal_autonomic_nervous | 0.51873836 |
| 134 | MP0003329_amyloid_beta_deposits | 0.51198698 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Central scotoma (HP:0000603) | 8.29960868 |
| 2 | Abnormal rod and cone electroretinograms (HP:0008323) | 7.36893234 |
| 3 | Abnormality of macular pigmentation (HP:0008002) | 7.13673912 |
| 4 | Severe visual impairment (HP:0001141) | 6.88211584 |
| 5 | Scotoma (HP:0000575) | 5.92522593 |
| 6 | Bony spicule pigmentary retinopathy (HP:0007737) | 5.89944782 |
| 7 | Decreased central vision (HP:0007663) | 5.60890416 |
| 8 | Ankle clonus (HP:0011448) | 4.88805369 |
| 9 | Epileptic encephalopathy (HP:0200134) | 4.87187339 |
| 10 | Keratoconus (HP:0000563) | 4.83438439 |
| 11 | Increased corneal curvature (HP:0100692) | 4.83438439 |
| 12 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 4.82501062 |
| 13 | Abnormal gallbladder physiology (HP:0012438) | 4.73165951 |
| 14 | Cholecystitis (HP:0001082) | 4.73165951 |
| 15 | Septo-optic dysplasia (HP:0100842) | 4.30981142 |
| 16 | Bundle branch block (HP:0011710) | 4.18483600 |
| 17 | Supranuclear gaze palsy (HP:0000605) | 4.09111084 |
| 18 | Febrile seizures (HP:0002373) | 3.98085901 |
| 19 | Hypercortisolism (HP:0001578) | 3.91413294 |
| 20 | Abolished electroretinogram (ERG) (HP:0000550) | 3.89574797 |
| 21 | Attenuation of retinal blood vessels (HP:0007843) | 3.87625283 |
| 22 | Pendular nystagmus (HP:0012043) | 3.81230778 |
| 23 | Spastic gait (HP:0002064) | 3.64448183 |
| 24 | Cerebral hypomyelination (HP:0006808) | 3.64395915 |
| 25 | Obstructive sleep apnea (HP:0002870) | 3.60366183 |
| 26 | Postural instability (HP:0002172) | 3.58531489 |
| 27 | Chorioretinal atrophy (HP:0000533) | 3.52839540 |
| 28 | Progressive cerebellar ataxia (HP:0002073) | 3.49898072 |
| 29 | Aplasia/Hypoplasia of the fovea (HP:0008060) | 3.48714259 |
| 30 | Hypoplasia of the fovea (HP:0007750) | 3.48714259 |
| 31 | Ventricular fibrillation (HP:0001663) | 3.47612745 |
| 32 | Absence seizures (HP:0002121) | 3.41506856 |
| 33 | Pigmentary retinal degeneration (HP:0001146) | 3.40684475 |
| 34 | Abnormal eating behavior (HP:0100738) | 3.37070409 |
| 35 | Myokymia (HP:0002411) | 3.36163208 |
| 36 | Lower limb muscle weakness (HP:0007340) | 3.31992633 |
| 37 | Hand muscle atrophy (HP:0009130) | 3.25422821 |
| 38 | Visual hallucinations (HP:0002367) | 3.24313012 |
| 39 | Papilledema (HP:0001085) | 3.18993466 |
| 40 | Neurofibrillary tangles (HP:0002185) | 3.08815496 |
| 41 | Photophobia (HP:0000613) | 3.07401319 |
| 42 | Type II diabetes mellitus (HP:0005978) | 3.03856882 |
| 43 | Torticollis (HP:0000473) | 3.00842141 |
| 44 | Dyschromatopsia (HP:0007641) | 2.97776714 |
| 45 | Abnormal pupillary function (HP:0007686) | 2.96066347 |
| 46 | Urinary urgency (HP:0000012) | 2.93893079 |
| 47 | Heart block (HP:0012722) | 2.91581297 |
| 48 | Focal motor seizures (HP:0011153) | 2.91247886 |
| 49 | Atrial fibrillation (HP:0005110) | 2.89467106 |
| 50 | Sudden death (HP:0001699) | 2.83932412 |
| 51 | Abnormality of the fovea (HP:0000493) | 2.83575926 |
| 52 | Dialeptic seizures (HP:0011146) | 2.82984870 |
| 53 | Constricted visual fields (HP:0001133) | 2.82819417 |
| 54 | Distal upper limb amyotrophy (HP:0007149) | 2.81865068 |
| 55 | Upper limb amyotrophy (HP:0009129) | 2.81865068 |
| 56 | Hyporeflexia of lower limbs (HP:0002600) | 2.81846999 |
| 57 | Fetal akinesia sequence (HP:0001989) | 2.80740894 |
| 58 | Syncope (HP:0001279) | 2.78906932 |
| 59 | Albinism (HP:0001022) | 2.78180957 |
| 60 | Sleep apnea (HP:0010535) | 2.75878886 |
| 61 | Primary atrial arrhythmia (HP:0001692) | 2.72605242 |
| 62 | Abnormal EKG (HP:0003115) | 2.70929596 |
| 63 | Annular pancreas (HP:0001734) | 2.69301759 |
| 64 | Abnormal atrioventricular conduction (HP:0005150) | 2.69228383 |
| 65 | Limb dystonia (HP:0002451) | 2.68664534 |
| 66 | Cone-rod dystrophy (HP:0000548) | 2.68269759 |
| 67 | Gait imbalance (HP:0002141) | 2.67779585 |
| 68 | Neuronal loss in central nervous system (HP:0002529) | 2.66743346 |
| 69 | Clonus (HP:0002169) | 2.66267181 |
| 70 | Foot dorsiflexor weakness (HP:0009027) | 2.65692507 |
| 71 | Retinitis pigmentosa (HP:0000510) | 2.65594548 |
| 72 | Delusions (HP:0000746) | 2.64661679 |
| 73 | Hemiparesis (HP:0001269) | 2.63182479 |
| 74 | Urinary bladder sphincter dysfunction (HP:0002839) | 2.61895781 |
| 75 | Hyperparathyroidism (HP:0000843) | 2.61877871 |
| 76 | Supraventricular tachycardia (HP:0004755) | 2.60391482 |
| 77 | Congenital primary aphakia (HP:0007707) | 2.56472376 |
| 78 | Peripheral hypomyelination (HP:0007182) | 2.55501353 |
| 79 | Dysdiadochokinesis (HP:0002075) | 2.53036188 |
| 80 | Supraventricular arrhythmia (HP:0005115) | 2.52010200 |
| 81 | Impaired vibration sensation in the lower limbs (HP:0002166) | 2.50275603 |
| 82 | Bradykinesia (HP:0002067) | 2.49138939 |
| 83 | Congenital sensorineural hearing impairment (HP:0008527) | 2.47786665 |
| 84 | Abnormality of the foot musculature (HP:0001436) | 2.47462042 |
| 85 | Adrenal overactivity (HP:0002717) | 2.46975926 |
| 86 | Generalized tonic-clonic seizures (HP:0002069) | 2.44629015 |
| 87 | Resting tremor (HP:0002322) | 2.42532850 |
| 88 | Aplasia/Hypoplasia of the macula (HP:0008059) | 2.41461741 |
| 89 | Macular degeneration (HP:0000608) | 2.39806788 |
| 90 | Medial flaring of the eyebrow (HP:0010747) | 2.38991218 |
| 91 | Impaired smooth pursuit (HP:0007772) | 2.37804934 |
| 92 | Posterior subcapsular cataract (HP:0007787) | 2.34222426 |
| 93 | Nephrogenic diabetes insipidus (HP:0009806) | 2.33854113 |
| 94 | Rapidly progressive (HP:0003678) | 2.32310134 |
| 95 | Atrioventricular block (HP:0001678) | 2.31997873 |
| 96 | Optic nerve hypoplasia (HP:0000609) | 2.30295603 |
| 97 | EEG with generalized epileptiform discharges (HP:0011198) | 2.30142828 |
| 98 | Aplasia/Hypoplasia affecting the retina (HP:0008061) | 2.29056238 |
| 99 | Epileptiform EEG discharges (HP:0011182) | 2.28465127 |
| 100 | Hammertoe (HP:0001765) | 2.26303527 |
| 101 | Focal dystonia (HP:0004373) | 2.23728167 |
| 102 | Tetraplegia (HP:0002445) | 2.23726248 |
| 103 | Lower limb amyotrophy (HP:0007210) | 2.23660333 |
| 104 | Poor eye contact (HP:0000817) | 2.22434847 |
| 105 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 2.19724531 |
| 106 | Hemiplegia (HP:0002301) | 2.18677527 |
| 107 | Optic disc pallor (HP:0000543) | 2.18183747 |
| 108 | Cerebral inclusion bodies (HP:0100314) | 2.16339803 |
| 109 | Craniofacial dystonia (HP:0012179) | 2.15010919 |
| 110 | Prolonged QT interval (HP:0001657) | 2.14756999 |
| 111 | Dysmetric saccades (HP:0000641) | 2.11472646 |
| 112 | Status epilepticus (HP:0002133) | 2.11357389 |
| 113 | Atonic seizures (HP:0010819) | 2.09755585 |
| 114 | Generalized hypopigmentation (HP:0007513) | 2.09641659 |
| 115 | Focal seizures (HP:0007359) | 2.08970464 |
| 116 | Stereotypic behavior (HP:0000733) | 2.08187948 |
| 117 | Choroideremia (HP:0001139) | 2.07866034 |
| 118 | Broad-based gait (HP:0002136) | 2.07505968 |
| 119 | Depression (HP:0000716) | 2.07117571 |
| 120 | Emotional lability (HP:0000712) | 2.03798138 |
| 121 | Retinal dysplasia (HP:0007973) | 2.00578492 |
| 122 | Mutism (HP:0002300) | 2.00489854 |
| 123 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 2.00437644 |
| 124 | Congenital stationary night blindness (HP:0007642) | 14.0004054 |
| 125 | Insomnia (HP:0100785) | 1.99710933 |
| 126 | Rigidity (HP:0002063) | 1.99116867 |
| 127 | Apathy (HP:0000741) | 1.99071465 |
| 128 | Upper limb muscle weakness (HP:0003484) | 1.98875116 |
| 129 | CNS hypomyelination (HP:0003429) | 1.98204811 |
| 130 | Impaired vibratory sensation (HP:0002495) | 1.97826168 |
| 131 | Absent septum pellucidum (HP:0001331) | 1.97183764 |
| 132 | Intention tremor (HP:0002080) | 1.96806667 |
| 133 | Abnormality of ocular smooth pursuit (HP:0000617) | 1.96105204 |
| 134 | Muscle fiber splitting (HP:0003555) | 1.95418046 |
| 135 | Muscle abnormality related to mitochondrial dysfunction (HP:0003800) | 1.94608148 |
| 136 | Poor coordination (HP:0002370) | 1.93568899 |
| 137 | Unsteady gait (HP:0002317) | 1.92325826 |
| 138 | Akinesia (HP:0002304) | 1.91440052 |
| 139 | Steppage gait (HP:0003376) | 1.91145650 |
| 140 | Calf muscle hypertrophy (HP:0008981) | 1.90727690 |
| 141 | Abnormality of the corticospinal tract (HP:0002492) | 1.90119227 |
| 142 | Diminished motivation (HP:0000745) | 1.89665066 |
| 143 | Abnormality of abdominal situs (HP:0011620) | 1.88073239 |
| 144 | Abdominal situs inversus (HP:0003363) | 1.88073239 |
| 145 | EMG: myopathic abnormalities (HP:0003458) | 1.87122401 |
| 146 | Exercise-induced myalgia (HP:0003738) | 1.86676884 |
| 147 | Severe Myopia (HP:0011003) | 1.86178856 |
| 148 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.78242690 |
| 149 | Growth hormone deficiency (HP:0000824) | 1.77050203 |
| 150 | Astigmatism (HP:0000483) | 1.76504271 |
| 151 | Chorioretinal coloboma (HP:0000567) | 1.71590854 |
| 152 | Vaginal atresia (HP:0000148) | 1.69706960 |
| 153 | Genital tract atresia (HP:0001827) | 1.66672765 |
| 154 | Neoplasm of the heart (HP:0100544) | 1.66016364 |
| 155 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.65463996 |
| 156 | Abnormal hair whorl (HP:0010721) | 1.65395216 |
| 157 | Action tremor (HP:0002345) | 1.65185533 |
| 158 | Abnormality of the septum pellucidum (HP:0007375) | 1.63961510 |
| 159 | Abnormality of binocular vision (HP:0011514) | 1.61414346 |
| 160 | Diplopia (HP:0000651) | 1.61414346 |
| 161 | Polyphagia (HP:0002591) | 1.59973370 |
| 162 | Progressive visual loss (HP:0000529) | 1.59478030 |
| 163 | Truncal ataxia (HP:0002078) | 1.58367543 |
| 164 | Hypsarrhythmia (HP:0002521) | 1.57604409 |
| 165 | Gaze-evoked nystagmus (HP:0000640) | 1.56378453 |
| 166 | Abnormality of the lower motor neuron (HP:0002366) | 1.56300039 |
| 167 | Cholelithiasis (HP:0001081) | 1.56277706 |
| 168 | Anxiety (HP:0000739) | 1.55080999 |
| 169 | Dysmetria (HP:0001310) | 1.54721479 |
| 170 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.52570622 |
| 171 | Subcapsular cataract (HP:0000523) | 1.51367869 |
| 172 | Abnormality of alanine metabolism (HP:0010916) | 1.50515902 |
| 173 | Hyperalaninemia (HP:0003348) | 1.50515902 |
| 174 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 1.50515902 |
| 175 | Vitreoretinal degeneration (HP:0000655) | 1.49796463 |
| 176 | Incomplete penetrance (HP:0003829) | 1.49377608 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PIM2 | 6.43010699 |
| 2 | NME1 | 4.35360904 |
| 3 | PRPF4B | 4.18365768 |
| 4 | MAP3K4 | 3.63935508 |
| 5 | PAK6 | 3.10399025 |
| 6 | NEK1 | 3.10353942 |
| 7 | MAP2K7 | 2.70404194 |
| 8 | DYRK1A | 2.55977058 |
| 9 | DAPK3 | 2.54865359 |
| 10 | CASK | 2.54423794 |
| 11 | TAOK2 | 2.22231501 |
| 12 | TRIM28 | 2.16359152 |
| 13 | MINK1 | 2.15219847 |
| 14 | MAP3K5 | 2.10386694 |
| 15 | MYLK | 2.05631648 |
| 16 | RIPK1 | 2.02059857 |
| 17 | PINK1 | 1.94178343 |
| 18 | UHMK1 | 1.93293854 |
| 19 | STK38 | 1.91594726 |
| 20 | PHKG1 | 1.90872579 |
| 21 | PHKG2 | 1.90872579 |
| 22 | CDK3 | 1.84285831 |
| 23 | MARK1 | 1.82252955 |
| 24 | GRK1 | 1.79399517 |
| 25 | PBK | 1.78360499 |
| 26 | BCR | 1.69846577 |
| 27 | STK38L | 1.65486936 |
| 28 | CDK6 | 1.64556827 |
| 29 | AKT3 | 1.64191043 |
| 30 | CDK19 | 1.62757858 |
| 31 | INSRR | 1.60743065 |
| 32 | EPHA4 | 1.46602168 |
| 33 | LATS2 | 1.44622823 |
| 34 | DAPK2 | 1.41130115 |
| 35 | MAP2K4 | 1.40390721 |
| 36 | MAP3K9 | 1.38162940 |
| 37 | GRK5 | 1.35143404 |
| 38 | MAP3K13 | 1.33914577 |
| 39 | SGK223 | 1.28968433 |
| 40 | SGK494 | 1.28968433 |
| 41 | FES | 1.28833359 |
| 42 | CDK8 | 1.28735292 |
| 43 | MAP3K7 | 1.21887156 |
| 44 | TNK2 | 1.21104089 |
| 45 | CDK14 | 1.20977811 |
| 46 | CAMK2D | 1.17518563 |
| 47 | TNIK | 1.16301404 |
| 48 | PRKCG | 1.14111078 |
| 49 | CDK15 | 1.12134436 |
| 50 | PLK2 | 1.11489345 |
| 51 | CDK18 | 1.09247020 |
| 52 | SIK2 | 1.05389420 |
| 53 | TSSK6 | 1.03689888 |
| 54 | CDK5 | 1.03211453 |
| 55 | MAP3K6 | 1.02552295 |
| 56 | ARAF | 1.01406115 |
| 57 | CDK11A | 0.99722528 |
| 58 | MAPK13 | 0.97222763 |
| 59 | NTRK3 | 0.94854604 |
| 60 | CAMK2A | 0.93355130 |
| 61 | CLK1 | 0.91675719 |
| 62 | OXSR1 | 0.89512221 |
| 63 | DAPK1 | 0.89162830 |
| 64 | FER | 0.87755240 |
| 65 | IRAK2 | 0.82806896 |
| 66 | MAPK7 | 0.82248763 |
| 67 | ADRBK1 | 0.81326182 |
| 68 | TESK1 | 0.79929604 |
| 69 | MAPK4 | 0.78483154 |
| 70 | PIM1 | 0.77865200 |
| 71 | NTRK2 | 0.75107357 |
| 72 | PRKAA1 | 0.75022537 |
| 73 | PRKCE | 0.74885060 |
| 74 | CAMK1 | 0.74722159 |
| 75 | PAK3 | 0.73325085 |
| 76 | PTK2B | 0.72603835 |
| 77 | PLK3 | 0.71805051 |
| 78 | SGK3 | 0.71580932 |
| 79 | PAK2 | 0.68672225 |
| 80 | PRKCH | 0.67266208 |
| 81 | NTRK1 | 0.66617344 |
| 82 | PKN1 | 0.66359552 |
| 83 | MAP3K12 | 0.66056843 |
| 84 | PRKD3 | 0.63452499 |
| 85 | BRAF | 0.62945004 |
| 86 | CSNK1A1L | 0.62721288 |
| 87 | ADRBK2 | 0.62162422 |
| 88 | CAMKK2 | 0.61655101 |
| 89 | PRKG1 | 0.60866853 |
| 90 | MAPK10 | 0.60067904 |
| 91 | CAMK2G | 0.59481353 |
| 92 | IRAK1 | 0.58808544 |
| 93 | NEK6 | 0.57806217 |
| 94 | SGK1 | 0.57020813 |
| 95 | MARK2 | 0.54398911 |
| 96 | MAP2K6 | 0.53926568 |
| 97 | PRKCA | 0.53528183 |
| 98 | WNK3 | 0.51303914 |
| 99 | PRKCZ | 0.51035372 |
| 100 | CAMK1D | 0.50660763 |
| 101 | PRKACA | 0.50014383 |
| 102 | ROCK2 | 0.49572939 |
| 103 | KSR2 | 0.49384888 |
| 104 | BMPR2 | 0.49320842 |
| 105 | PRKCB | 0.49184370 |
| 106 | CAMKK1 | 0.48170156 |
| 107 | PRKD2 | 0.48135129 |
| 108 | SIK3 | 0.48112199 |
| 109 | CSNK1G2 | 0.47677322 |
| 110 | EIF2AK3 | 0.47546705 |
| 111 | TYRO3 | 0.46367071 |
| 112 | PRKACB | 0.46132290 |
| 113 | MARK3 | 0.45239303 |
| 114 | STK11 | 0.44953320 |
| 115 | RPS6KA3 | 0.44831952 |
| 116 | OBSCN | 0.44095628 |
| 117 | WNK1 | 0.43180563 |
| 118 | TTN | 0.42280409 |
| 119 | CCNB1 | 0.41060433 |
| 120 | STK16 | 0.40019238 |
| 121 | EPHA3 | 0.39595411 |
| 122 | BRD4 | 0.39445331 |
| 123 | MAPK9 | 0.39072163 |
| 124 | GSK3B | 0.38978789 |
| 125 | DYRK1B | 0.38340521 |
| 126 | SGK2 | 0.38270321 |
| 127 | RIPK4 | 0.37907195 |
| 128 | CAMK4 | 0.37551956 |
| 129 | PDK1 | 0.37539809 |
| 130 | LIMK1 | 0.37484902 |
| 131 | MAPK8 | 0.37424422 |
| 132 | EIF2AK1 | 0.36229084 |
| 133 | CAMK2B | 0.35034738 |
| 134 | KSR1 | 0.33770449 |
| 135 | PDPK1 | 0.32274681 |
| 136 | EEF2K | 0.31776500 |
| 137 | MAPK12 | 0.31232250 |
| 138 | RPS6KB1 | 0.30356905 |
| 139 | ICK | 0.30202154 |
| 140 | BRSK1 | 0.28680360 |
| 141 | CSNK1G3 | 0.28064922 |
| 142 | LMTK2 | 0.28045314 |
| 143 | DMPK | 0.27725246 |
| 144 | RPS6KA5 | 0.26815883 |
| 145 | ALK | 0.26567914 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Phototransduction_Homo sapiens_hsa04744 | 4.52115346 |
| 2 | Nicotine addiction_Homo sapiens_hsa05033 | 4.49072866 |
| 3 | GABAergic synapse_Homo sapiens_hsa04727 | 4.07599842 |
| 4 | * Synaptic vesicle cycle_Homo sapiens_hsa04721 | 3.72261404 |
| 5 | Morphine addiction_Homo sapiens_hsa05032 | 3.67312883 |
| 6 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 3.56917397 |
| 7 | Circadian entrainment_Homo sapiens_hsa04713 | 2.76235984 |
| 8 | Olfactory transduction_Homo sapiens_hsa04740 | 2.50538122 |
| 9 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 2.35685919 |
| 10 | Insulin secretion_Homo sapiens_hsa04911 | 2.14435741 |
| 11 | Circadian rhythm_Homo sapiens_hsa04710 | 2.12703427 |
| 12 | Glutamatergic synapse_Homo sapiens_hsa04724 | 2.03968841 |
| 13 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.94811456 |
| 14 | Renin secretion_Homo sapiens_hsa04924 | 1.90442924 |
| 15 | Salivary secretion_Homo sapiens_hsa04970 | 1.88587948 |
| 16 | Cholinergic synapse_Homo sapiens_hsa04725 | 1.88321350 |
| 17 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.84624085 |
| 18 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.75516807 |
| 19 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 1.70434155 |
| 20 | Taste transduction_Homo sapiens_hsa04742 | 1.69996330 |
| 21 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 1.65690985 |
| 22 | Dopaminergic synapse_Homo sapiens_hsa04728 | 1.64362075 |
| 23 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.55478608 |
| 24 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.49859383 |
| 25 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 1.47350355 |
| 26 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.44028373 |
| 27 | Glioma_Homo sapiens_hsa05214 | 1.42817065 |
| 28 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 1.40937033 |
| 29 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.24575202 |
| 30 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 1.23527844 |
| 31 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 1.23216714 |
| 32 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 1.22440157 |
| 33 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 1.17024828 |
| 34 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 1.16688494 |
| 35 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.14964622 |
| 36 | Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750 | 1.10645868 |
| 37 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 1.07703135 |
| 38 | Gap junction_Homo sapiens_hsa04540 | 1.04845872 |
| 39 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 1.04696802 |
| 40 | ErbB signaling pathway_Homo sapiens_hsa04012 | 1.02508911 |
| 41 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 1.01196120 |
| 42 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.99343812 |
| 43 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.95238272 |
| 44 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.90576622 |
| 45 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.84665973 |
| 46 | Long-term potentiation_Homo sapiens_hsa04720 | 0.83902769 |
| 47 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.83018663 |
| 48 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.81690526 |
| 49 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.81640455 |
| 50 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.79044529 |
| 51 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.77905543 |
| 52 | Long-term depression_Homo sapiens_hsa04730 | 0.76988686 |
| 53 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.76723050 |
| 54 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.73847377 |
| 55 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.72642685 |
| 56 | Histidine metabolism_Homo sapiens_hsa00340 | 0.72291374 |
| 57 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.72194525 |
| 58 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.72108588 |
| 59 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 0.71694698 |
| 60 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.67382975 |
| 61 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.65343481 |
| 62 | Galactose metabolism_Homo sapiens_hsa00052 | 0.64143838 |
| 63 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.63633896 |
| 64 | Mineral absorption_Homo sapiens_hsa04978 | 0.63375859 |
| 65 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.62682853 |
| 66 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.62492201 |
| 67 | Carbon metabolism_Homo sapiens_hsa01200 | 0.61666588 |
| 68 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.60779263 |
| 69 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.60664282 |
| 70 | Endocytosis_Homo sapiens_hsa04144 | 0.59931372 |
| 71 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.59511594 |
| 72 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.58738506 |
| 73 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 0.58581453 |
| 74 | Cocaine addiction_Homo sapiens_hsa05030 | 0.56609058 |
| 75 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.55124735 |
| 76 | Alcoholism_Homo sapiens_hsa05034 | 0.53952253 |
| 77 | Prostate cancer_Homo sapiens_hsa05215 | 0.52591239 |
| 78 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.52550312 |
| 79 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.52494426 |
| 80 | Bile secretion_Homo sapiens_hsa04976 | 0.50299467 |
| 81 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.49996977 |
| 82 | Prion diseases_Homo sapiens_hsa05020 | 0.49667397 |
| 83 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 0.49443818 |
| 84 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.46126700 |
| 85 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.44855926 |
| 86 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.44746577 |
| 87 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 0.44707952 |
| 88 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.44533900 |
| 89 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.43630050 |
| 90 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.43570834 |
| 91 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.42235235 |
| 92 | FoxO signaling pathway_Homo sapiens_hsa04068 | 0.41474953 |
| 93 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.41359096 |
| 94 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.39867531 |
| 95 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.38670021 |
| 96 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 0.37671781 |
| 97 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.37124043 |
| 98 | Bladder cancer_Homo sapiens_hsa05219 | 0.34867613 |
| 99 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.34810935 |
| 100 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.33315416 |
| 101 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.32835058 |
| 102 | Purine metabolism_Homo sapiens_hsa00230 | 0.32057488 |
| 103 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.32054808 |
| 104 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.31771163 |
| 105 | Ras signaling pathway_Homo sapiens_hsa04014 | 0.31486811 |
| 106 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.30793041 |
| 107 | Alzheimers disease_Homo sapiens_hsa05010 | 0.27583008 |
| 108 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.27298046 |
| 109 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.24383122 |
| 110 | Phagosome_Homo sapiens_hsa04145 | 0.23631694 |
| 111 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.21550085 |
| 112 | Melanoma_Homo sapiens_hsa05218 | 0.20897551 |
| 113 | Renal cell carcinoma_Homo sapiens_hsa05211 | 0.17727947 |
| 114 | ABC transporters_Homo sapiens_hsa02010 | 0.17369730 |
| 115 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.16503059 |
| 116 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.16383222 |
| 117 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.16231513 |
| 118 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.15999870 |
| 119 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.15465990 |
| 120 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.14852727 |
| 121 | Melanogenesis_Homo sapiens_hsa04916 | 0.13855701 |
| 122 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.13653378 |
| 123 | Axon guidance_Homo sapiens_hsa04360 | 0.13048990 |
| 124 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.12440988 |

