

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | pyrimidine nucleobase catabolic process (GO:0006208) | 4.36691172 |
| 2 | intraciliary transport (GO:0042073) | 4.14667968 |
| 3 | protein localization to cilium (GO:0061512) | 3.99976895 |
| 4 | Golgi transport vesicle coating (GO:0048200) | 3.90160828 |
| 5 | COPI coating of Golgi vesicle (GO:0048205) | 3.90160828 |
| 6 | protein deneddylation (GO:0000338) | 3.74836543 |
| 7 | cullin deneddylation (GO:0010388) | 3.74134899 |
| 8 | behavioral response to nicotine (GO:0035095) | 3.73827311 |
| 9 | nucleobase catabolic process (GO:0046113) | 3.58412797 |
| 10 | neuron cell-cell adhesion (GO:0007158) | 3.52855551 |
| 11 | protein complex biogenesis (GO:0070271) | 3.51521520 |
| 12 | mitochondrial electron transport, NADH to ubiquinone (GO:0006120) | 3.48686263 |
| 13 | mitochondrial respiratory chain complex I biogenesis (GO:0097031) | 3.42229783 |
| 14 | mitochondrial respiratory chain complex I assembly (GO:0032981) | 3.42229783 |
| 15 | NADH dehydrogenase complex assembly (GO:0010257) | 3.42229783 |
| 16 | chaperone-mediated protein transport (GO:0072321) | 3.38196586 |
| 17 | postsynaptic membrane organization (GO:0001941) | 3.36568278 |
| 18 | synaptic vesicle docking involved in exocytosis (GO:0016081) | 3.27451699 |
| 19 | cilium movement (GO:0003341) | 3.20405002 |
| 20 | mitochondrial respiratory chain complex assembly (GO:0033108) | 3.19437433 |
| 21 | protein maturation by protein folding (GO:0022417) | 3.19214316 |
| 22 | axonemal dynein complex assembly (GO:0070286) | 3.19002148 |
| 23 | vocalization behavior (GO:0071625) | 3.18028643 |
| 24 | tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) | 3.16428722 |
| 25 | RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394) | 3.16428722 |
| 26 | presynaptic membrane assembly (GO:0097105) | 3.15843083 |
| 27 | respiratory chain complex IV assembly (GO:0008535) | 3.14231660 |
| 28 | regulation of synaptic vesicle exocytosis (GO:2000300) | 3.14140273 |
| 29 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.13491116 |
| 30 | platelet dense granule organization (GO:0060155) | 3.13134314 |
| 31 | exocrine pancreas development (GO:0031017) | 3.12022285 |
| 32 | sequestering of actin monomers (GO:0042989) | 3.04742066 |
| 33 | positive regulation of mitochondrial fission (GO:0090141) | 3.01869137 |
| 34 | synaptic vesicle exocytosis (GO:0016079) | 3.01789463 |
| 35 | ER overload response (GO:0006983) | 3.01440774 |
| 36 | protein polyglutamylation (GO:0018095) | 3.01085763 |
| 37 | regulation of cilium movement (GO:0003352) | 3.00623831 |
| 38 | retinal ganglion cell axon guidance (GO:0031290) | 2.95004162 |
| 39 | detection of calcium ion (GO:0005513) | 2.92507397 |
| 40 | olfactory bulb development (GO:0021772) | 2.90384706 |
| 41 | axoneme assembly (GO:0035082) | 2.89857678 |
| 42 | establishment of protein localization to mitochondrial membrane (GO:0090151) | 2.87514303 |
| 43 | positive regulation of calcium ion-dependent exocytosis (GO:0045956) | 2.83593584 |
| 44 | response to pheromone (GO:0019236) | 2.80839964 |
| 45 | regulation of inhibitory postsynaptic membrane potential (GO:0060080) | 2.80100882 |
| 46 | DNA double-strand break processing (GO:0000729) | 2.79501552 |
| 47 | sensory perception of smell (GO:0007608) | 2.78934107 |
| 48 | regulation of synaptic vesicle transport (GO:1902803) | 2.78468677 |
| 49 | positive regulation of excitatory postsynaptic membrane potential (GO:2000463) | 2.77904624 |
| 50 | presynaptic membrane organization (GO:0097090) | 2.77239937 |
| 51 | cerebellum development (GO:0021549) | 2.77235878 |
| 52 | negative regulation of transcription regulatory region DNA binding (GO:2000678) | 2.77220040 |
| 53 | female mating behavior (GO:0060180) | 2.75276712 |
| 54 | nonmotile primary cilium assembly (GO:0035058) | 2.75134978 |
| 55 | regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act | 2.74797728 |
| 56 | regulation of short-term neuronal synaptic plasticity (GO:0048172) | 2.73786032 |
| 57 | respiratory electron transport chain (GO:0022904) | 2.72212608 |
| 58 | electron transport chain (GO:0022900) | 2.71106517 |
| 59 | epithelial cilium movement (GO:0003351) | 2.67937738 |
| 60 | inositol phosphate catabolic process (GO:0071545) | 2.67623549 |
| 61 | signal peptide processing (GO:0006465) | 2.67495005 |
| 62 | negative regulation of telomere maintenance (GO:0032205) | 2.66284944 |
| 63 | mannosylation (GO:0097502) | 2.65577908 |
| 64 | guanosine-containing compound biosynthetic process (GO:1901070) | 2.65299906 |
| 65 | glutamate secretion (GO:0014047) | 2.65047478 |
| 66 | cytochrome complex assembly (GO:0017004) | 2.64639953 |
| 67 | neuronal action potential propagation (GO:0019227) | 2.63353011 |
| 68 | maintenance of protein localization in endoplasmic reticulum (GO:0035437) | 2.57665918 |
| 69 | protein-cofactor linkage (GO:0018065) | 2.57282704 |
| 70 | calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339) | 2.57027916 |
| 71 | limb bud formation (GO:0060174) | 2.56332436 |
| 72 | cilium assembly (GO:0042384) | 2.55428049 |
| 73 | somite development (GO:0061053) | 2.55030263 |
| 74 | DNA damage response, detection of DNA damage (GO:0042769) | 2.53327965 |
| 75 | nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291) | 2.51866272 |
| 76 | cilium organization (GO:0044782) | 2.50700276 |
| 77 | energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988) | 2.50169233 |
| 78 | ATP hydrolysis coupled proton transport (GO:0015991) | 2.50169233 |
| 79 | RNA capping (GO:0036260) | 2.49313463 |
| 80 | 7-methylguanosine RNA capping (GO:0009452) | 2.49313463 |
| 81 | retinal cone cell development (GO:0046549) | 2.48612996 |
| 82 | cilium or flagellum-dependent cell motility (GO:0001539) | 2.48065654 |
| 83 | 7-methylguanosine mRNA capping (GO:0006370) | 2.47708815 |
| 84 | regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310) | 2.47448245 |
| 85 | regulation of alternative mRNA splicing, via spliceosome (GO:0000381) | 2.46929433 |
| 86 | photoreceptor cell maintenance (GO:0045494) | 2.46646958 |
| 87 | regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266) | 2.45772801 |
| 88 | regulation of mitotic spindle checkpoint (GO:1903504) | 2.45772801 |
| 89 | synapse assembly (GO:0007416) | 2.45314410 |
| 90 | peptidyl-arginine N-methylation (GO:0035246) | 2.44592974 |
| 91 | peptidyl-arginine methylation (GO:0018216) | 2.44592974 |
| 92 | glandular epithelial cell differentiation (GO:0002067) | 2.44557470 |
| 93 | regulation of glutamate receptor signaling pathway (GO:1900449) | 2.44477450 |
| 94 | water-soluble vitamin biosynthetic process (GO:0042364) | 2.43839511 |
| 95 | regulation of microtubule-based movement (GO:0060632) | 2.43203160 |
| 96 | positive regulation of membrane potential (GO:0045838) | 2.42907879 |
| 97 | cilium morphogenesis (GO:0060271) | 2.42904512 |
| 98 | cellular ketone body metabolic process (GO:0046950) | 2.42877401 |
| 99 | detection of mechanical stimulus involved in sensory perception of sound (GO:0050910) | 2.42282607 |
| 100 | melanosome transport (GO:0032402) | 2.42260689 |
| 101 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 2.39936498 |
| 102 | synaptic transmission, glutamatergic (GO:0035249) | 2.39904894 |
| 103 | protein neddylation (GO:0045116) | 2.38961030 |
| 104 | smoothened signaling pathway (GO:0007224) | 2.38895484 |
| 105 | protein retention in ER lumen (GO:0006621) | 2.38809610 |
| 106 | digestion (GO:0007586) | 2.38589879 |
| 107 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 2.38162435 |
| 108 | membrane depolarization during cardiac muscle cell action potential (GO:0086012) | 2.38001177 |
| 109 | establishment of melanosome localization (GO:0032401) | 2.37937962 |
| 110 | ribonucleoprotein complex disassembly (GO:0032988) | 2.37572968 |
| 111 | regulation of female receptivity (GO:0045924) | 2.36965038 |
| 112 | cell migration in hindbrain (GO:0021535) | 2.36872414 |
| 113 | synaptic vesicle endocytosis (GO:0048488) | 2.35435030 |
| 114 | neuron-neuron synaptic transmission (GO:0007270) | 2.35077045 |
| 115 | replication fork processing (GO:0031297) | 2.34941157 |
| 116 | cellular component assembly involved in morphogenesis (GO:0010927) | 2.34898262 |
| 117 | axonal fasciculation (GO:0007413) | 2.34430352 |
| 118 | insulin secretion (GO:0030073) | 2.34227474 |
| 119 | neurotransmitter-gated ion channel clustering (GO:0072578) | 2.33828719 |
| 120 | peptidyl-arginine omega-N-methylation (GO:0035247) | 2.33463905 |
| 121 | anterograde synaptic vesicle transport (GO:0048490) | 2.33032430 |
| 122 | calcium-mediated signaling using intracellular calcium source (GO:0035584) | 2.32408486 |
| 123 | protein insertion into membrane (GO:0051205) | 2.32296405 |
| 124 | protein localization to synapse (GO:0035418) | 2.31493525 |
| 125 | centriole replication (GO:0007099) | 2.31202729 |
| 126 | peptidyl-histidine modification (GO:0018202) | 2.29772848 |
| 127 | neural tube formation (GO:0001841) | 2.28880936 |
| 128 | membrane repolarization during cardiac muscle cell action potential (GO:0086013) | 2.28142245 |
| 129 | innervation (GO:0060384) | 2.27413372 |
| 130 | phosphorylated carbohydrate dephosphorylation (GO:0046838) | 2.27317980 |
| 131 | inositol phosphate dephosphorylation (GO:0046855) | 2.27317980 |
| 132 | pigment granule transport (GO:0051904) | 2.27073586 |
| 133 | aldehyde catabolic process (GO:0046185) | 2.26784993 |
| 134 | paraxial mesoderm development (GO:0048339) | 2.26702751 |
| 135 | calcium ion-dependent exocytosis (GO:0017156) | 2.26383075 |
| 136 | behavioral response to ethanol (GO:0048149) | 2.25490502 |
| 137 | nucleobase biosynthetic process (GO:0046112) | 2.25357837 |
| 138 | substrate-independent telencephalic tangential interneuron migration (GO:0021843) | 2.25055739 |
| 139 | substrate-independent telencephalic tangential migration (GO:0021826) | 2.25055739 |
| 140 | transmission of nerve impulse (GO:0019226) | 2.25037714 |
| 141 | mechanosensory behavior (GO:0007638) | 2.24888775 |
| 142 | melanosome localization (GO:0032400) | 2.24254254 |
| 143 | hindbrain development (GO:0030902) | 2.24045158 |
| 144 | establishment of pigment granule localization (GO:0051905) | 2.23637670 |
| 145 | regulation of feeding behavior (GO:0060259) | 2.23461245 |
| 146 | cholesterol biosynthetic process (GO:0006695) | 2.23074291 |
| 147 | gamma-aminobutyric acid transport (GO:0015812) | 2.22995504 |
| 148 | forebrain neuron differentiation (GO:0021879) | 2.22818556 |
| 149 | GTP biosynthetic process (GO:0006183) | 2.22691369 |
| 150 | regulation of glucocorticoid secretion (GO:2000849) | 2.22462553 |
| 151 | regulation of telomere maintenance (GO:0032204) | 2.21606238 |
| 152 | negative regulation of dendrite morphogenesis (GO:0050774) | 2.20707343 |
| 153 | transferrin transport (GO:0033572) | 2.20643593 |
| 154 | hippocampus development (GO:0021766) | 2.20549295 |
| 155 | organelle disassembly (GO:1903008) | 2.20436427 |
| 156 | photoreceptor cell development (GO:0042461) | 2.20248383 |
| 157 | GPI anchor metabolic process (GO:0006505) | 2.20012889 |
| 158 | negative regulation of synaptic transmission, glutamatergic (GO:0051967) | 2.19903498 |
| 159 | negative regulation of microtubule polymerization (GO:0031115) | 2.19812965 |
| 160 | branched-chain amino acid catabolic process (GO:0009083) | 2.19054430 |
| 161 | preassembly of GPI anchor in ER membrane (GO:0016254) | 2.19024002 |
| 162 | somatic hypermutation of immunoglobulin genes (GO:0016446) | 2.18667084 |
| 163 | regulation of respiratory gaseous exchange by neurological system process (GO:0002087) | 2.17921713 |
| 164 | energy coupled proton transport, down electrochemical gradient (GO:0015985) | 2.17795963 |
| 165 | ATP synthesis coupled proton transport (GO:0015986) | 2.17795963 |
| 166 | positive regulation of synapse maturation (GO:0090129) | 2.16503814 |
| 167 | histone arginine methylation (GO:0034969) | 2.16361973 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 3.94886942 |
| 2 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 3.10937254 |
| 3 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.76104084 |
| 4 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 2.70767534 |
| 5 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 2.61508339 |
| 6 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 2.58032027 |
| 7 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 2.56826485 |
| 8 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 2.56574878 |
| 9 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 2.34244809 |
| 10 | CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons | 2.21883882 |
| 11 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 2.20854352 |
| 12 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 2.10882205 |
| 13 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 2.07330036 |
| 14 | EWS_26573619_Chip-Seq_HEK293_Human | 2.01374805 |
| 15 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.96911819 |
| 16 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 1.93065501 |
| 17 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 1.87263489 |
| 18 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.84621649 |
| 19 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 1.84540724 |
| 20 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.82528664 |
| 21 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.81776715 |
| 22 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 1.80072539 |
| 23 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.79489864 |
| 24 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 1.76464554 |
| 25 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.65548522 |
| 26 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.62475075 |
| 27 | REST_18959480_ChIP-ChIP_MESCs_Mouse | 1.60132197 |
| 28 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.59022137 |
| 29 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.58927535 |
| 30 | CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse | 1.54229395 |
| 31 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.54002148 |
| 32 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.53305858 |
| 33 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.50642900 |
| 34 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.49097095 |
| 35 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.48162217 |
| 36 | * SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 1.48146800 |
| 37 | SIN3A_21632747_ChIP-Seq_MESCs_Mouse | 1.44949349 |
| 38 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.44743533 |
| 39 | SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 1.42857277 |
| 40 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 1.42433092 |
| 41 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.42287305 |
| 42 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.42265269 |
| 43 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.41329220 |
| 44 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 1.40771307 |
| 45 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.38565835 |
| 46 | YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.38433833 |
| 47 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.37558392 |
| 48 | SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.36981718 |
| 49 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.36510192 |
| 50 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.35448605 |
| 51 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.35158254 |
| 52 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.34756292 |
| 53 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.34756292 |
| 54 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.33283346 |
| 55 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.31556590 |
| 56 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 1.30887184 |
| 57 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 1.29799217 |
| 58 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.29642204 |
| 59 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.29514838 |
| 60 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.28547039 |
| 61 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.26495206 |
| 62 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.25865675 |
| 63 | FUS_26573619_Chip-Seq_HEK293_Human | 1.25673280 |
| 64 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 1.23581323 |
| 65 | P300_19829295_ChIP-Seq_ESCs_Human | 1.22657118 |
| 66 | GABP_19822575_ChIP-Seq_HepG2_Human | 1.22466917 |
| 67 | SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 1.22146187 |
| 68 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.21394563 |
| 69 | FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse | 1.21116700 |
| 70 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.21002381 |
| 71 | RARB_27405468_Chip-Seq_BRAIN_Mouse | 1.20893407 |
| 72 | * SOX2_16153702_ChIP-ChIP_HESCs_Human | 1.20785071 |
| 73 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.20446631 |
| 74 | * MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.19400359 |
| 75 | AR_25329375_ChIP-Seq_VCAP_Human | 1.16563766 |
| 76 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.15291457 |
| 77 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.14523386 |
| 78 | KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 1.13784769 |
| 79 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.13745086 |
| 80 | * CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat | 1.13521946 |
| 81 | * NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.13317115 |
| 82 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.12030529 |
| 83 | EZH2_18974828_ChIP-Seq_MESCs_Mouse | 1.10716531 |
| 84 | RNF2_18974828_ChIP-Seq_MESCs_Mouse | 1.10716531 |
| 85 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.09338215 |
| 86 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.09338215 |
| 87 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.08162831 |
| 88 | * SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 1.08045937 |
| 89 | PRDM5_23873026_ChIP-Seq_MEFs_Mouse | 1.08017931 |
| 90 | * RUNX2_22187159_ChIP-Seq_PCA_Human | 1.07826237 |
| 91 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.07172191 |
| 92 | SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 1.07034035 |
| 93 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.07028215 |
| 94 | REST_19997604_ChIP-ChIP_NEURONS_Mouse | 1.07002051 |
| 95 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 1.05693040 |
| 96 | SUZ12_18692474_ChIP-Seq_MEFs_Mouse | 1.05455234 |
| 97 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.04286519 |
| 98 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.04140828 |
| 99 | SRF_21415370_ChIP-Seq_HL-1_Mouse | 1.03717063 |
| 100 | VDR_22108803_ChIP-Seq_LS180_Human | 1.03218015 |
| 101 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.02722253 |
| 102 | * TCF4_23295773_ChIP-Seq_U87_Human | 1.02710050 |
| 103 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.01737226 |
| 104 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.01737226 |
| 105 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 0.99799863 |
| 106 | FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 0.99487748 |
| 107 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 0.99361275 |
| 108 | TTF2_22483619_ChIP-Seq_HELA_Human | 0.99013360 |
| 109 | PADI4_21655091_ChIP-ChIP_MCF-7_Human | 0.98772653 |
| 110 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 0.98612249 |
| 111 | RNF2_27304074_Chip-Seq_ESCs_Mouse | 0.98484630 |
| 112 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 0.98407387 |
| 113 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 0.98390796 |
| 114 | SOX9_26525672_Chip-Seq_HEART_Mouse | 0.98007942 |
| 115 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 0.97907087 |
| 116 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 0.97829875 |
| 117 | E2F1_18555785_ChIP-Seq_MESCs_Mouse | 0.97559442 |
| 118 | PHC1_16625203_ChIP-ChIP_MESCs_Mouse | 0.96671062 |
| 119 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 0.96466498 |
| 120 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 0.96173526 |
| 121 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 0.96004377 |
| 122 | VDR_23849224_ChIP-Seq_CD4+_Human | 0.95313415 |
| 123 | NCOR_22424771_ChIP-Seq_293T_Human | 0.95313272 |
| 124 | FOXP3_21729870_ChIP-Seq_TREG_Human | 0.95114607 |
| 125 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 0.94770825 |
| 126 | * AUTS2_25519132_ChIP-Seq_293T-REX_Human | 0.94393193 |
| 127 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 0.94045125 |
| 128 | ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 0.93902754 |
| 129 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 0.93886488 |
| 130 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 0.93377905 |
| 131 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 0.93172534 |
| 132 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 0.93087131 |
| 133 | SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 0.92994455 |
| 134 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 0.92815047 |
| 135 | POU5F1_18358816_ChIP-ChIP_MESCs_Mouse | 0.92521820 |
| 136 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 0.91414049 |
| 137 | JUN_21703547_ChIP-Seq_K562_Human | 0.91270439 |
| 138 | * MTF2_20144788_ChIP-Seq_MESCs_Mouse | 0.90779407 |
| 139 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 0.90738071 |
| 140 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 0.90572075 |
| 141 | OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 0.90151993 |
| 142 | * ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 0.89677744 |
| 143 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 0.88678024 |
| 144 | STAT3_23295773_ChIP-Seq_U87_Human | 0.86930837 |
| 145 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 0.86610459 |
| 146 | ELK1_19687146_ChIP-ChIP_HELA_Human | 0.85651976 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0001984_abnormal_olfaction | 2.96401919 |
| 2 | MP0004270_analgesia | 2.94006856 |
| 3 | MP0002653_abnormal_ependyma_morphology | 2.89017013 |
| 4 | MP0003880_abnormal_central_pattern | 2.50024012 |
| 5 | MP0003123_paternal_imprinting | 2.43691032 |
| 6 | MP0000678_abnormal_parathyroid_gland | 2.40672395 |
| 7 | MP0004859_abnormal_synaptic_plasticity | 2.39956546 |
| 8 | MP0001529_abnormal_vocalization | 2.28996847 |
| 9 | MP0002734_abnormal_mechanical_nocicepti | 2.26434437 |
| 10 | MP0006292_abnormal_olfactory_placode | 2.25351987 |
| 11 | MP0003122_maternal_imprinting | 2.17344082 |
| 12 | MP0003635_abnormal_synaptic_transmissio | 2.05972758 |
| 13 | MP0008789_abnormal_olfactory_epithelium | 2.00864518 |
| 14 | MP0003787_abnormal_imprinting | 1.92881065 |
| 15 | MP0005394_taste/olfaction_phenotype | 1.91399273 |
| 16 | MP0005499_abnormal_olfactory_system | 1.91399273 |
| 17 | MP0001968_abnormal_touch/_nociception | 1.89630890 |
| 18 | MP0002184_abnormal_innervation | 1.87637673 |
| 19 | MP0005551_abnormal_eye_electrophysiolog | 1.77216742 |
| 20 | MP0003121_genomic_imprinting | 1.74618271 |
| 21 | MP0002063_abnormal_learning/memory/cond | 1.72285620 |
| 22 | MP0001293_anophthalmia | 1.70812257 |
| 23 | MP0002837_dystrophic_cardiac_calcinosis | 1.70143057 |
| 24 | MP0000778_abnormal_nervous_system | 1.65760019 |
| 25 | MP0005253_abnormal_eye_physiology | 1.64946614 |
| 26 | MP0005220_abnormal_exocrine_pancreas | 1.63758430 |
| 27 | MP0002572_abnormal_emotion/affect_behav | 1.62937014 |
| 28 | MP0003136_yellow_coat_color | 1.62367597 |
| 29 | MP0005646_abnormal_pituitary_gland | 1.60859686 |
| 30 | MP0002735_abnormal_chemical_nociception | 1.60760997 |
| 31 | MP0010386_abnormal_urinary_bladder | 1.58539795 |
| 32 | MP0009780_abnormal_chondrocyte_physiolo | 1.58216450 |
| 33 | MP0006276_abnormal_autonomic_nervous | 1.56702653 |
| 34 | MP0009046_muscle_twitch | 1.53902645 |
| 35 | MP0002557_abnormal_social/conspecific_i | 1.52715802 |
| 36 | MP0009745_abnormal_behavioral_response | 1.51103863 |
| 37 | MP0002736_abnormal_nociception_after | 1.50375357 |
| 38 | MP0003011_delayed_dark_adaptation | 1.49829178 |
| 39 | MP0001188_hyperpigmentation | 1.47448936 |
| 40 | MP0002272_abnormal_nervous_system | 1.47372358 |
| 41 | MP0008995_early_reproductive_senescence | 1.46871055 |
| 42 | MP0002693_abnormal_pancreas_physiology | 1.44692589 |
| 43 | MP0003879_abnormal_hair_cell | 1.44264180 |
| 44 | MP0003890_abnormal_embryonic-extraembry | 1.43763114 |
| 45 | MP0002064_seizures | 1.42568655 |
| 46 | MP0000631_abnormal_neuroendocrine_gland | 1.38882187 |
| 47 | MP0002638_abnormal_pupillary_reflex | 1.38756145 |
| 48 | MP0004043_abnormal_pH_regulation | 1.36622213 |
| 49 | MP0002876_abnormal_thyroid_physiology | 1.35465702 |
| 50 | MP0000013_abnormal_adipose_tissue | 1.32582968 |
| 51 | MP0005645_abnormal_hypothalamus_physiol | 1.32355092 |
| 52 | MP0002160_abnormal_reproductive_system | 1.32201182 |
| 53 | MP0003119_abnormal_digestive_system | 1.31577427 |
| 54 | MP0001944_abnormal_pancreas_morphology | 1.31161456 |
| 55 | MP0002067_abnormal_sensory_capabilities | 1.30074727 |
| 56 | MP0002909_abnormal_adrenal_gland | 1.30011345 |
| 57 | MP0001486_abnormal_startle_reflex | 1.27863239 |
| 58 | MP0001970_abnormal_pain_threshold | 1.27398630 |
| 59 | MP0008877_abnormal_DNA_methylation | 1.27267358 |
| 60 | MP0002733_abnormal_thermal_nociception | 1.26149745 |
| 61 | MP0006072_abnormal_retinal_apoptosis | 1.25904695 |
| 62 | MP0000955_abnormal_spinal_cord | 1.22664889 |
| 63 | MP0004924_abnormal_behavior | 1.21110155 |
| 64 | MP0005386_behavior/neurological_phenoty | 1.21110155 |
| 65 | MP0000372_irregular_coat_pigmentation | 1.20310377 |
| 66 | MP0003718_maternal_effect | 1.19857950 |
| 67 | MP0003942_abnormal_urinary_system | 1.17779590 |
| 68 | MP0001485_abnormal_pinna_reflex | 1.17424313 |
| 69 | MP0003283_abnormal_digestive_organ | 1.16103425 |
| 70 | MP0003693_abnormal_embryo_hatching | 1.15669190 |
| 71 | MP0002751_abnormal_autonomic_nervous | 1.15005161 |
| 72 | MP0003195_calcinosis | 1.14976012 |
| 73 | MP0003315_abnormal_perineum_morphology | 1.14202724 |
| 74 | MP0002822_catalepsy | 1.09814070 |
| 75 | MP0005195_abnormal_posterior_eye | 1.09215843 |
| 76 | MP0004145_abnormal_muscle_electrophysio | 1.08620543 |
| 77 | MP0004811_abnormal_neuron_physiology | 1.08096800 |
| 78 | MP0008058_abnormal_DNA_repair | 1.08025806 |
| 79 | MP0005187_abnormal_penis_morphology | 1.07416041 |
| 80 | MP0002882_abnormal_neuron_morphology | 1.06479756 |
| 81 | MP0000427_abnormal_hair_cycle | 1.06332608 |
| 82 | MP0005084_abnormal_gallbladder_morpholo | 1.06172385 |
| 83 | MP0002938_white_spotting | 1.04862548 |
| 84 | MP0001501_abnormal_sleep_pattern | 1.04628343 |
| 85 | MP0004142_abnormal_muscle_tone | 1.03402122 |
| 86 | MP0000566_synostosis | 1.01591231 |
| 87 | MP0005391_vision/eye_phenotype | 1.01490110 |
| 88 | MP0001905_abnormal_dopamine_level | 1.01312919 |
| 89 | MP0000026_abnormal_inner_ear | 1.00747317 |
| 90 | MP0005389_reproductive_system_phenotype | 0.97753728 |
| 91 | MP0002152_abnormal_brain_morphology | 0.97466469 |
| 92 | MP0004133_heterotaxia | 0.96058675 |
| 93 | MP0004885_abnormal_endolymph | 0.95720436 |
| 94 | MP0000049_abnormal_middle_ear | 0.95321067 |
| 95 | MP0001324_abnormal_eye_pigmentation | 0.94269820 |
| 96 | MP0001440_abnormal_grooming_behavior | 0.93955373 |
| 97 | MP0004147_increased_porphyrin_level | 0.93381412 |
| 98 | MP0001286_abnormal_eye_development | 0.92057873 |
| 99 | MP0005423_abnormal_somatic_nervous | 0.92042690 |
| 100 | MP0002752_abnormal_somatic_nervous | 0.91867323 |
| 101 | MP0003937_abnormal_limbs/digits/tail_de | 0.91786833 |
| 102 | MP0003861_abnormal_nervous_system | 0.91503741 |
| 103 | MP0000647_abnormal_sebaceous_gland | 0.90781707 |
| 104 | MP0001664_abnormal_digestion | 0.89866990 |
| 105 | MP0003183_abnormal_peptide_metabolism | 0.88852545 |
| 106 | MP0002234_abnormal_pharynx_morphology | 0.88424236 |
| 107 | MP0003938_abnormal_ear_development | 0.88174062 |
| 108 | MP0002090_abnormal_vision | 0.88088245 |
| 109 | MP0004957_abnormal_blastocyst_morpholog | 0.87638395 |
| 110 | MP0008932_abnormal_embryonic_tissue | 0.86783933 |
| 111 | MP0002102_abnormal_ear_morphology | 0.86530631 |
| 112 | MP0002233_abnormal_nose_morphology | 0.85455072 |
| 113 | MP0002066_abnormal_motor_capabilities/c | 0.85337782 |
| 114 | MP0001502_abnormal_circadian_rhythm | 0.85181897 |
| 115 | MP0001986_abnormal_taste_sensitivity | 0.85150890 |
| 116 | MP0003755_abnormal_palate_morphology | 0.84016366 |
| 117 | MP0010030_abnormal_orbit_morphology | 0.82017490 |
| 118 | MP0002095_abnormal_skin_pigmentation | 0.80339234 |
| 119 | MP0003567_abnormal_fetal_cardiomyocyte | 0.80201453 |
| 120 | MP0000681_abnormal_thyroid_gland | 0.79293797 |
| 121 | MP0005379_endocrine/exocrine_gland_phen | 0.78398864 |
| 122 | MP0000516_abnormal_urinary_system | 0.78272145 |
| 123 | MP0005367_renal/urinary_system_phenotyp | 0.78272145 |
| 124 | MP0003698_abnormal_male_reproductive | 0.77521330 |
| 125 | MP0002210_abnormal_sex_determination | 0.77347427 |
| 126 | MP0003786_premature_aging | 0.76713601 |
| 127 | MP0008872_abnormal_physiological_respon | 0.75891662 |
| 128 | MP0000534_abnormal_ureter_morphology | 0.75759506 |
| 129 | MP0001963_abnormal_hearing_physiology | 0.75747063 |
| 130 | MP0004085_abnormal_heartbeat | 0.75388200 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal ciliary motility (HP:0012262) | 3.88944349 |
| 2 | Elevated circulating parathyroid hormone (PTH) level (HP:0003165) | 3.66433240 |
| 3 | Focal motor seizures (HP:0011153) | 3.52827541 |
| 4 | Gait imbalance (HP:0002141) | 3.46300730 |
| 5 | Abnormal respiratory motile cilium physiology (HP:0012261) | 3.41417875 |
| 6 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.37932771 |
| 7 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.37932771 |
| 8 | Severe visual impairment (HP:0001141) | 3.24624531 |
| 9 | Congenital primary aphakia (HP:0007707) | 3.20515756 |
| 10 | Pancreatic fibrosis (HP:0100732) | 3.19201501 |
| 11 | Chronic hepatic failure (HP:0100626) | 3.13910045 |
| 12 | Medial flaring of the eyebrow (HP:0010747) | 3.10089072 |
| 13 | Atonic seizures (HP:0010819) | 2.99896976 |
| 14 | Nephrogenic diabetes insipidus (HP:0009806) | 2.99725574 |
| 15 | Rhinitis (HP:0012384) | 2.92203230 |
| 16 | Papillary thyroid carcinoma (HP:0002895) | 2.91128715 |
| 17 | Bifid tongue (HP:0010297) | 2.89560372 |
| 18 | Abnormal pancreas size (HP:0012094) | 2.86279377 |
| 19 | Epileptic encephalopathy (HP:0200134) | 2.79448801 |
| 20 | Increased CSF lactate (HP:0002490) | 2.74720246 |
| 21 | Vaginal atresia (HP:0000148) | 2.74622654 |
| 22 | Type II lissencephaly (HP:0007260) | 2.74426329 |
| 23 | Genital tract atresia (HP:0001827) | 2.73310804 |
| 24 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 2.71380646 |
| 25 | True hermaphroditism (HP:0010459) | 2.64697418 |
| 26 | Hepatocellular necrosis (HP:0001404) | 2.61486282 |
| 27 | Poor coordination (HP:0002370) | 2.59664947 |
| 28 | Lipid accumulation in hepatocytes (HP:0006561) | 2.56772644 |
| 29 | Amblyopia (HP:0000646) | 2.55464745 |
| 30 | Tubulointerstitial nephritis (HP:0001970) | 2.53523333 |
| 31 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 2.51684220 |
| 32 | Anencephaly (HP:0002323) | 2.51610703 |
| 33 | Pheochromocytoma (HP:0002666) | 2.50118895 |
| 34 | Lissencephaly (HP:0001339) | 2.47779168 |
| 35 | Sclerocornea (HP:0000647) | 2.47082672 |
| 36 | Molar tooth sign on MRI (HP:0002419) | 2.45974809 |
| 37 | Abnormality of midbrain morphology (HP:0002418) | 2.45974809 |
| 38 | Symptomatic seizures (HP:0011145) | 2.45226074 |
| 39 | Pancreatic cysts (HP:0001737) | 2.45078338 |
| 40 | Hepatic necrosis (HP:0002605) | 2.44844465 |
| 41 | Nephronophthisis (HP:0000090) | 2.44357986 |
| 42 | Increased hepatocellular lipid droplets (HP:0006565) | 2.44037030 |
| 43 | Acute necrotizing encephalopathy (HP:0006965) | 2.39137405 |
| 44 | Facial cleft (HP:0002006) | 2.38340444 |
| 45 | Limb dystonia (HP:0002451) | 2.35858450 |
| 46 | Intestinal atresia (HP:0011100) | 2.33880541 |
| 47 | Neuroendocrine neoplasm (HP:0100634) | 2.29660559 |
| 48 | Polyphagia (HP:0002591) | 2.29473952 |
| 49 | Abnormality of the renal cortex (HP:0011035) | 2.26571718 |
| 50 | Colon cancer (HP:0003003) | 2.26483797 |
| 51 | Hypothermia (HP:0002045) | 2.25515353 |
| 52 | Septo-optic dysplasia (HP:0100842) | 2.24304651 |
| 53 | Narrow forehead (HP:0000341) | 2.21639532 |
| 54 | Abnormal mitochondria in muscle tissue (HP:0008316) | 2.21339156 |
| 55 | Chronic bronchitis (HP:0004469) | 2.18738021 |
| 56 | Epileptiform EEG discharges (HP:0011182) | 2.18640129 |
| 57 | Retinal dysplasia (HP:0007973) | 2.17675753 |
| 58 | Unsteady gait (HP:0002317) | 2.16987930 |
| 59 | Hyperventilation (HP:0002883) | 2.14945844 |
| 60 | Cerebellar dysplasia (HP:0007033) | 2.13810182 |
| 61 | Myokymia (HP:0002411) | 2.11595630 |
| 62 | Focal seizures (HP:0007359) | 2.09222299 |
| 63 | Thyroid-stimulating hormone excess (HP:0002925) | 2.09217490 |
| 64 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 2.09155268 |
| 65 | Abnormality of calcium-phosphate metabolism (HP:0100530) | 2.08239676 |
| 66 | 3-Methylglutaconic aciduria (HP:0003535) | 2.08097289 |
| 67 | Febrile seizures (HP:0002373) | 2.08052475 |
| 68 | Hepatoblastoma (HP:0002884) | 2.07711324 |
| 69 | Supernumerary spleens (HP:0009799) | 2.05490771 |
| 70 | EEG with generalized epileptiform discharges (HP:0011198) | 2.04963854 |
| 71 | Preaxial hand polydactyly (HP:0001177) | 2.04924337 |
| 72 | Occipital encephalocele (HP:0002085) | 2.04770330 |
| 73 | Progressive cerebellar ataxia (HP:0002073) | 2.03986187 |
| 74 | Abnormal biliary tract physiology (HP:0012439) | 2.03128602 |
| 75 | Bile duct proliferation (HP:0001408) | 2.03128602 |
| 76 | Visual hallucinations (HP:0002367) | 2.02872385 |
| 77 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 2.02765565 |
| 78 | Absent/shortened dynein arms (HP:0200106) | 2.02765565 |
| 79 | Generalized aminoaciduria (HP:0002909) | 2.02681214 |
| 80 | Cerebral edema (HP:0002181) | 2.01486029 |
| 81 | Renal cortical cysts (HP:0000803) | 2.01374660 |
| 82 | Drooling (HP:0002307) | 2.00770257 |
| 83 | Broad distal phalanx of finger (HP:0009836) | 2.00671115 |
| 84 | Abnormality of the labia minora (HP:0012880) | 1.99055485 |
| 85 | Abnormal hair whorl (HP:0010721) | 1.98946147 |
| 86 | Gout (HP:0001997) | 1.97868966 |
| 87 | Hypsarrhythmia (HP:0002521) | 1.97201246 |
| 88 | Progressive macrocephaly (HP:0004481) | 1.97114871 |
| 89 | Abnormality of glycolysis (HP:0004366) | 1.96043610 |
| 90 | Increased serum pyruvate (HP:0003542) | 1.96043610 |
| 91 | Oligodactyly (hands) (HP:0001180) | 1.95980649 |
| 92 | Birth length less than 3rd percentile (HP:0003561) | 1.95750871 |
| 93 | Male pseudohermaphroditism (HP:0000037) | 1.94542377 |
| 94 | Aganglionic megacolon (HP:0002251) | 1.93804668 |
| 95 | Cystic liver disease (HP:0006706) | 1.92543436 |
| 96 | Absence seizures (HP:0002121) | 1.91841613 |
| 97 | Renal Fanconi syndrome (HP:0001994) | 1.91644379 |
| 98 | Congenital stationary night blindness (HP:0007642) | 1.89817233 |
| 99 | Cerebral hypomyelination (HP:0006808) | 1.89457843 |
| 100 | Anophthalmia (HP:0000528) | 1.89407515 |
| 101 | Dandy-Walker malformation (HP:0001305) | 1.89182653 |
| 102 | Broad foot (HP:0001769) | 1.88589054 |
| 103 | Thyroid carcinoma (HP:0002890) | 1.88455833 |
| 104 | Pachygyria (HP:0001302) | 1.88251971 |
| 105 | Absent eyebrow (HP:0002223) | 1.88083441 |
| 106 | Oculomotor apraxia (HP:0000657) | 1.84529916 |
| 107 | Aplasia/hypoplasia of the uterus (HP:0008684) | 1.83210414 |
| 108 | Optic disc pallor (HP:0000543) | 1.81837036 |
| 109 | Abnormality of dentin (HP:0010299) | 1.81435255 |
| 110 | Mitochondrial inheritance (HP:0001427) | 1.81386183 |
| 111 | Postaxial hand polydactyly (HP:0001162) | 1.81055355 |
| 112 | Abnormality of the renal medulla (HP:0100957) | 1.80643261 |
| 113 | Agitation (HP:0000713) | 1.80549474 |
| 114 | Pendular nystagmus (HP:0012043) | 1.80272022 |
| 115 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.79599803 |
| 116 | Cortical visual impairment (HP:0100704) | 1.79533014 |
| 117 | Specific learning disability (HP:0001328) | 1.78846433 |
| 118 | Degeneration of anterior horn cells (HP:0002398) | 1.78716027 |
| 119 | Abnormality of the anterior horn cell (HP:0006802) | 1.78716027 |
| 120 | Generalized tonic-clonic seizures (HP:0002069) | 1.77939684 |
| 121 | Hyperglycinemia (HP:0002154) | 1.77374270 |
| 122 | Acute encephalopathy (HP:0006846) | 1.77108623 |
| 123 | Poor suck (HP:0002033) | 1.76633849 |
| 124 | Growth hormone deficiency (HP:0000824) | 1.76469438 |
| 125 | Prominent nasal bridge (HP:0000426) | 1.74458834 |
| 126 | Increased serum lactate (HP:0002151) | 1.74375545 |
| 127 | Excessive salivation (HP:0003781) | 1.74161622 |
| 128 | Volvulus (HP:0002580) | 1.70715098 |
| 129 | Abnormality of alanine metabolism (HP:0010916) | 1.69748515 |
| 130 | Hyperalaninemia (HP:0003348) | 1.69748515 |
| 131 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 1.69748515 |
| 132 | Absent septum pellucidum (HP:0001331) | 1.69356135 |
| 133 | Decreased testicular size (HP:0008734) | 1.68421654 |
| 134 | Hypoplastic female external genitalia (HP:0012815) | 1.68303056 |
| 135 | Labial hypoplasia (HP:0000066) | 1.67938757 |
| 136 | Gastrointestinal atresia (HP:0002589) | 1.67618164 |
| 137 | Abolished electroretinogram (ERG) (HP:0000550) | 1.67298875 |
| 138 | Bicornuate uterus (HP:0000813) | 1.67271042 |
| 139 | Micropenis (HP:0000054) | 1.67130844 |
| 140 | Median cleft lip (HP:0000161) | 1.67117483 |
| 141 | Methylmalonic acidemia (HP:0002912) | 1.66893484 |
| 142 | Dialeptic seizures (HP:0011146) | 1.66696431 |
| 143 | Tubular atrophy (HP:0000092) | 1.66284007 |
| 144 | Multicystic kidney dysplasia (HP:0000003) | 1.65144264 |
| 145 | Optic nerve hypoplasia (HP:0000609) | 1.64163371 |
| 146 | Aplasia/Hypoplasia of the sternum (HP:0006714) | 1.62510422 |
| 147 | Postaxial foot polydactyly (HP:0001830) | 1.61186021 |
| 148 | Decreased circulating renin level (HP:0003351) | 1.61106598 |
| 149 | Delayed epiphyseal ossification (HP:0002663) | 1.60262006 |
| 150 | Tubulointerstitial abnormality (HP:0001969) | 1.59187305 |
| 151 | Atrophy/Degeneration involving motor neurons (HP:0007373) | 1.58173968 |
| 152 | Type I transferrin isoform profile (HP:0003642) | 1.57484883 |
| 153 | Congenital hepatic fibrosis (HP:0002612) | 1.57067890 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | CASK | 4.06297969 |
| 2 | MAP3K4 | 2.99658245 |
| 3 | MAP4K2 | 2.92342575 |
| 4 | STK16 | 2.89346042 |
| 5 | MAPK15 | 2.79869080 |
| 6 | MARK1 | 2.79797996 |
| 7 | MAP2K7 | 2.74716869 |
| 8 | TRIM28 | 2.59526069 |
| 9 | AKT3 | 2.35515335 |
| 10 | NTRK3 | 2.17315334 |
| 11 | PASK | 2.10096089 |
| 12 | TNIK | 2.09950129 |
| 13 | ZAK | 2.07958347 |
| 14 | PLK2 | 1.97791539 |
| 15 | TSSK6 | 1.97306099 |
| 16 | CCNB1 | 1.95989323 |
| 17 | MAPK13 | 1.89424934 |
| 18 | NEK1 | 1.81776474 |
| 19 | PINK1 | 1.72368214 |
| 20 | GRK1 | 1.67960732 |
| 21 | NUAK1 | 1.67564053 |
| 22 | SRPK1 | 1.66213488 |
| 23 | DYRK2 | 1.64842880 |
| 24 | PLK3 | 1.63325072 |
| 25 | MINK1 | 1.61522231 |
| 26 | BRAF | 1.58598434 |
| 27 | INSRR | 1.56232132 |
| 28 | LATS2 | 1.55959036 |
| 29 | BRSK1 | 1.50303709 |
| 30 | PNCK | 1.47683587 |
| 31 | BUB1 | 1.42291547 |
| 32 | EPHA3 | 1.41206292 |
| 33 | BRSK2 | 1.39552250 |
| 34 | EPHA4 | 1.38055758 |
| 35 | VRK2 | 1.37741963 |
| 36 | PRKD3 | 1.35447898 |
| 37 | VRK1 | 1.33655874 |
| 38 | WNK3 | 1.29195660 |
| 39 | BCR | 1.27769824 |
| 40 | PAK3 | 1.26693582 |
| 41 | ARAF | 1.23353703 |
| 42 | NTRK2 | 1.19441160 |
| 43 | DAPK1 | 1.15574916 |
| 44 | CDK19 | 1.15331676 |
| 45 | PRKCG | 1.14509307 |
| 46 | MKNK2 | 1.14323364 |
| 47 | DYRK1A | 1.14217570 |
| 48 | DAPK2 | 1.14213472 |
| 49 | WEE1 | 1.13121053 |
| 50 | PLK4 | 1.10700628 |
| 51 | ERBB3 | 1.09454797 |
| 52 | STK39 | 1.08683162 |
| 53 | MUSK | 1.07736998 |
| 54 | PHKG2 | 1.06149390 |
| 55 | PHKG1 | 1.06149390 |
| 56 | STK38L | 1.06065627 |
| 57 | EPHB2 | 1.04227144 |
| 58 | OXSR1 | 1.03551069 |
| 59 | ACVR1B | 0.97695598 |
| 60 | GRK5 | 0.97219929 |
| 61 | UHMK1 | 0.95711729 |
| 62 | AURKA | 0.94493022 |
| 63 | CDC7 | 0.93601765 |
| 64 | NME1 | 0.87570257 |
| 65 | CDK3 | 0.86773262 |
| 66 | BMPR1B | 0.85185870 |
| 67 | PAK6 | 0.84980287 |
| 68 | MAP2K4 | 0.84977430 |
| 69 | PLK1 | 0.84222662 |
| 70 | PRPF4B | 0.83825526 |
| 71 | BMPR2 | 0.83635396 |
| 72 | MKNK1 | 0.83555917 |
| 73 | PDK4 | 0.82836029 |
| 74 | PDK3 | 0.82836029 |
| 75 | SGK494 | 0.82611438 |
| 76 | SGK223 | 0.82611438 |
| 77 | SGK2 | 0.81934268 |
| 78 | MST4 | 0.80616506 |
| 79 | CAMK2B | 0.77655708 |
| 80 | FRK | 0.77503107 |
| 81 | CDK5 | 0.75196516 |
| 82 | MAP3K12 | 0.74622400 |
| 83 | PRKCI | 0.74018986 |
| 84 | CAMKK2 | 0.70913638 |
| 85 | MAPKAPK5 | 0.68978691 |
| 86 | CSNK1G2 | 0.68471122 |
| 87 | TGFBR1 | 0.68114688 |
| 88 | SIK3 | 0.66777855 |
| 89 | PBK | 0.66285398 |
| 90 | SIK2 | 0.64758339 |
| 91 | CDK18 | 0.64519690 |
| 92 | STK24 | 0.64342911 |
| 93 | SCYL2 | 0.64318675 |
| 94 | EIF2AK3 | 0.64233560 |
| 95 | CDK14 | 0.64109252 |
| 96 | CDC42BPA | 0.63720604 |
| 97 | LIMK1 | 0.62882282 |
| 98 | CSNK1G3 | 0.61289819 |
| 99 | CAMK2A | 0.60046050 |
| 100 | MAP3K9 | 0.59892701 |
| 101 | CDK8 | 0.58979622 |
| 102 | TTK | 0.58220425 |
| 103 | KSR1 | 0.57228454 |
| 104 | FER | 0.56588355 |
| 105 | ATR | 0.56268429 |
| 106 | HIPK2 | 0.54409785 |
| 107 | CDK15 | 0.53719684 |
| 108 | RPS6KA2 | 0.53546557 |
| 109 | CHEK2 | 0.52291645 |
| 110 | CSNK1A1L | 0.50224429 |
| 111 | DYRK1B | 0.50002159 |
| 112 | PDK2 | 0.49380393 |
| 113 | CSNK1A1 | 0.48886150 |
| 114 | ATM | 0.47736036 |
| 115 | PRKCE | 0.47694315 |
| 116 | BCKDK | 0.46574545 |
| 117 | PKN1 | 0.45798328 |
| 118 | ADRBK2 | 0.45471908 |
| 119 | CDK11A | 0.45052094 |
| 120 | CAMK2D | 0.43391876 |
| 121 | PRKACA | 0.42601254 |
| 122 | CSNK1E | 0.41904872 |
| 123 | DYRK3 | 0.40735866 |
| 124 | NEK6 | 0.40491212 |
| 125 | CSNK1D | 0.40307088 |
| 126 | RPS6KB1 | 0.40266832 |
| 127 | CSNK1G1 | 0.39837133 |
| 128 | TIE1 | 0.39146123 |
| 129 | TAF1 | 0.38265796 |
| 130 | FGFR2 | 0.38170555 |
| 131 | WNK4 | 0.37592632 |
| 132 | CSNK2A1 | 0.36400644 |
| 133 | PRKACB | 0.36087462 |
| 134 | ADRBK1 | 0.33948368 |
| 135 | CSNK2A2 | 0.33388975 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Protein export_Homo sapiens_hsa03060 | 3.41918626 |
| 2 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 3.03987497 |
| 3 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 2.75071677 |
| 4 | Olfactory transduction_Homo sapiens_hsa04740 | 2.46322965 |
| 5 | Nicotine addiction_Homo sapiens_hsa05033 | 2.36656760 |
| 6 | Insulin secretion_Homo sapiens_hsa04911 | 2.36171678 |
| 7 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 2.29352127 |
| 8 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 2.27476324 |
| 9 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 2.15534432 |
| 10 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 2.14966213 |
| 11 | Proteasome_Homo sapiens_hsa03050 | 2.05755734 |
| 12 | RNA polymerase_Homo sapiens_hsa03020 | 1.95694803 |
| 13 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 1.94806878 |
| 14 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.88079161 |
| 15 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.79003838 |
| 16 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.72293375 |
| 17 | Pancreatic secretion_Homo sapiens_hsa04972 | 1.71321322 |
| 18 | Parkinsons disease_Homo sapiens_hsa05012 | 1.69880869 |
| 19 | Huntingtons disease_Homo sapiens_hsa05016 | 1.67381950 |
| 20 | Taste transduction_Homo sapiens_hsa04742 | 1.64524869 |
| 21 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.63258555 |
| 22 | GABAergic synapse_Homo sapiens_hsa04727 | 1.62175172 |
| 23 | Dopaminergic synapse_Homo sapiens_hsa04728 | 1.60756120 |
| 24 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.58488769 |
| 25 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 1.57405874 |
| 26 | Circadian entrainment_Homo sapiens_hsa04713 | 1.54548297 |
| 27 | Long-term potentiation_Homo sapiens_hsa04720 | 1.48373168 |
| 28 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.41845714 |
| 29 | Ribosome_Homo sapiens_hsa03010 | 1.40372256 |
| 30 | Basal transcription factors_Homo sapiens_hsa03022 | 1.40361873 |
| 31 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 1.37937817 |
| 32 | Alzheimers disease_Homo sapiens_hsa05010 | 1.37418209 |
| 33 | Morphine addiction_Homo sapiens_hsa05032 | 1.36229276 |
| 34 | RNA transport_Homo sapiens_hsa03013 | 1.35776931 |
| 35 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.33250654 |
| 36 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.29003830 |
| 37 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.28943969 |
| 38 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.27006069 |
| 39 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.25744877 |
| 40 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.20050569 |
| 41 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 1.18781670 |
| 42 | Cocaine addiction_Homo sapiens_hsa05030 | 1.18140671 |
| 43 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.17023186 |
| 44 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.17016936 |
| 45 | Peroxisome_Homo sapiens_hsa04146 | 1.16944893 |
| 46 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 1.15441691 |
| 47 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 1.12633229 |
| 48 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.12390897 |
| 49 | Cell cycle_Homo sapiens_hsa04110 | 1.11155598 |
| 50 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 1.10526066 |
| 51 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.09778602 |
| 52 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.07962236 |
| 53 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.07076028 |
| 54 | Spliceosome_Homo sapiens_hsa03040 | 1.03610590 |
| 55 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 1.02703763 |
| 56 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.02697121 |
| 57 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.00706115 |
| 58 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.99643068 |
| 59 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.97506499 |
| 60 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.97177688 |
| 61 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.96490809 |
| 62 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.95962500 |
| 63 | Phototransduction_Homo sapiens_hsa04744 | 0.95665731 |
| 64 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.95278711 |
| 65 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.95195446 |
| 66 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.92226636 |
| 67 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.91732845 |
| 68 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.90832432 |
| 69 | Purine metabolism_Homo sapiens_hsa00230 | 0.90341653 |
| 70 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.89940207 |
| 71 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.89733938 |
| 72 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.89529290 |
| 73 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.86460811 |
| 74 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.86178105 |
| 75 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.85942451 |
| 76 | Metabolic pathways_Homo sapiens_hsa01100 | 0.83351386 |
| 77 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.81277388 |
| 78 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.80128723 |
| 79 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.79636397 |
| 80 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.79345118 |
| 81 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.77909631 |
| 82 | Circadian rhythm_Homo sapiens_hsa04710 | 0.76928208 |
| 83 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.76327303 |
| 84 | Mismatch repair_Homo sapiens_hsa03430 | 0.75663067 |
| 85 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.74585872 |
| 86 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.74548490 |
| 87 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.73071353 |
| 88 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.71769314 |
| 89 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.71545588 |
| 90 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 0.70413273 |
| 91 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.69199157 |
| 92 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.66112683 |
| 93 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 0.66078432 |
| 94 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.65673310 |
| 95 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 0.65238393 |
| 96 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.65199849 |
| 97 | Salivary secretion_Homo sapiens_hsa04970 | 0.64373733 |
| 98 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.64036736 |
| 99 | Melanogenesis_Homo sapiens_hsa04916 | 0.63788753 |
| 100 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.61475788 |
| 101 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.59838482 |
| 102 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.59204588 |
| 103 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.59174529 |
| 104 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.57577440 |
| 105 | Renin secretion_Homo sapiens_hsa04924 | 0.57553311 |
| 106 | Long-term depression_Homo sapiens_hsa04730 | 0.57352545 |
| 107 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.57137302 |
| 108 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.57088044 |
| 109 | Axon guidance_Homo sapiens_hsa04360 | 0.56724015 |
| 110 | Gap junction_Homo sapiens_hsa04540 | 0.55397368 |
| 111 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.55316876 |
| 112 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.55297908 |
| 113 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.55266311 |
| 114 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.54142326 |
| 115 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.53585854 |
| 116 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.53575308 |
| 117 | Retinol metabolism_Homo sapiens_hsa00830 | 0.53050458 |
| 118 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.52150951 |
| 119 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.51890750 |
| 120 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.51413516 |
| 121 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.51073118 |
| 122 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.50153314 |
| 123 | Endometrial cancer_Homo sapiens_hsa05213 | 0.49740461 |
| 124 | RNA degradation_Homo sapiens_hsa03018 | 0.49734394 |
| 125 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.49300615 |
| 126 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.47594446 |
| 127 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.46902144 |
| 128 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.46346710 |
| 129 | Alcoholism_Homo sapiens_hsa05034 | 0.46069975 |
| 130 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.45186022 |
| 131 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.44733975 |
| 132 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.44527770 |
| 133 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.44131336 |
| 134 | Base excision repair_Homo sapiens_hsa03410 | 0.41553438 |
| 135 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.39709063 |
| 136 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.37518592 |
| 137 | Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750 | 0.36031377 |
| 138 | Tight junction_Homo sapiens_hsa04530 | 0.35676065 |
| 139 | Colorectal cancer_Homo sapiens_hsa05210 | 0.35174223 |
| 140 | Homologous recombination_Homo sapiens_hsa03440 | 0.33896763 |
| 141 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.32695732 |
| 142 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.32194236 |

