

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | axonemal dynein complex assembly (GO:0070286) | 8.91109006 |
| 2 | fusion of sperm to egg plasma membrane (GO:0007342) | 8.82936304 |
| 3 | sperm motility (GO:0030317) | 8.54590783 |
| 4 | epithelial cilium movement (GO:0003351) | 8.28054800 |
| 5 | cilium movement (GO:0003341) | 7.72381156 |
| 6 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 7.57525458 |
| 7 | piRNA metabolic process (GO:0034587) | 7.49916718 |
| 8 | acrosome reaction (GO:0007340) | 7.47544741 |
| 9 | acrosome assembly (GO:0001675) | 7.41869290 |
| 10 | regulation of cilium movement (GO:0003352) | 7.24222437 |
| 11 | multicellular organism reproduction (GO:0032504) | 7.16585777 |
| 12 | sperm-egg recognition (GO:0035036) | 7.15890731 |
| 13 | motile cilium assembly (GO:0044458) | 7.14149392 |
| 14 | plasma membrane fusion (GO:0045026) | 6.92180250 |
| 15 | spermatid development (GO:0007286) | 6.78817673 |
| 16 | male meiosis (GO:0007140) | 6.72518692 |
| 17 | binding of sperm to zona pellucida (GO:0007339) | 6.57266507 |
| 18 | cell-cell recognition (GO:0009988) | 6.39128142 |
| 19 | synaptonemal complex organization (GO:0070193) | 6.21845034 |
| 20 | cell wall macromolecule catabolic process (GO:0016998) | 5.92405423 |
| 21 | cell wall macromolecule metabolic process (GO:0044036) | 5.92405423 |
| 22 | synaptonemal complex assembly (GO:0007130) | 5.81170789 |
| 23 | reproduction (GO:0000003) | 5.78437057 |
| 24 | negative regulation of inclusion body assembly (GO:0090084) | 5.27049750 |
| 25 | single fertilization (GO:0007338) | 5.20944303 |
| 26 | male meiosis I (GO:0007141) | 5.19113575 |
| 27 | sperm capacitation (GO:0048240) | 5.04582222 |
| 28 | ventricular system development (GO:0021591) | 4.93374594 |
| 29 | protein localization to cilium (GO:0061512) | 4.78456229 |
| 30 | DNA methylation involved in gamete generation (GO:0043046) | 4.70605127 |
| 31 | calcium ion-dependent exocytosis (GO:0017156) | 4.69867737 |
| 32 | fertilization (GO:0009566) | 4.68294249 |
| 33 | regulation of microtubule-based movement (GO:0060632) | 4.60936523 |
| 34 | spermatogenesis (GO:0007283) | 4.37955494 |
| 35 | male gamete generation (GO:0048232) | 4.36091268 |
| 36 | protein polyglutamylation (GO:0018095) | 4.27604195 |
| 37 | chromosome organization involved in meiosis (GO:0070192) | 4.20463566 |
| 38 | intraciliary transport (GO:0042073) | 4.13768270 |
| 39 | axoneme assembly (GO:0035082) | 4.13184810 |
| 40 | microtubule severing (GO:0051013) | 4.03970532 |
| 41 | germ cell development (GO:0007281) | 4.02609309 |
| 42 | gamete generation (GO:0007276) | 4.02607216 |
| 43 | meiosis I (GO:0007127) | 4.01008094 |
| 44 | regulation of inclusion body assembly (GO:0090083) | 3.92640562 |
| 45 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.91740902 |
| 46 | meiotic nuclear division (GO:0007126) | 3.89687217 |
| 47 | behavioral response to nicotine (GO:0035095) | 3.69766378 |
| 48 | left/right pattern formation (GO:0060972) | 3.66377681 |
| 49 | cell recognition (GO:0008037) | 3.60059486 |
| 50 | nonmotile primary cilium assembly (GO:0035058) | 3.56586601 |
| 51 | microtubule depolymerization (GO:0007019) | 3.56075874 |
| 52 | microtubule-based movement (GO:0007018) | 3.51975767 |
| 53 | seminiferous tubule development (GO:0072520) | 3.47765991 |
| 54 | regulation of meiosis I (GO:0060631) | 3.37418933 |
| 55 | organic cation transport (GO:0015695) | 3.29771539 |
| 56 | negative regulation of organelle assembly (GO:1902116) | 3.28921731 |
| 57 | cilium organization (GO:0044782) | 3.26312921 |
| 58 | cilium morphogenesis (GO:0060271) | 3.25541455 |
| 59 | meiotic cell cycle (GO:0051321) | 3.21164732 |
| 60 | multicellular organismal reproductive process (GO:0048609) | 3.19959738 |
| 61 | gene silencing by RNA (GO:0031047) | 3.19092455 |
| 62 | cilium assembly (GO:0042384) | 3.17784933 |
| 63 | positive regulation of calcium ion-dependent exocytosis (GO:0045956) | 3.11328545 |
| 64 | protein targeting to Golgi (GO:0000042) | 3.10979292 |
| 65 | cellular ketone body metabolic process (GO:0046950) | 3.10021330 |
| 66 | polyol catabolic process (GO:0046174) | 3.08713627 |
| 67 | lactate metabolic process (GO:0006089) | 3.06630405 |
| 68 | nucleoside diphosphate phosphorylation (GO:0006165) | 3.06498502 |
| 69 | membrane depolarization during cardiac muscle cell action potential (GO:0086012) | 3.06417876 |
| 70 | retinal cone cell development (GO:0046549) | 3.06216310 |
| 71 | monoubiquitinated protein deubiquitination (GO:0035520) | 2.98421210 |
| 72 | photoreceptor cell maintenance (GO:0045494) | 2.95268915 |
| 73 | establishment of protein localization to Golgi (GO:0072600) | 2.94374059 |
| 74 | auditory behavior (GO:0031223) | 2.90385086 |
| 75 | cellular component assembly involved in morphogenesis (GO:0010927) | 2.89581715 |
| 76 | genitalia morphogenesis (GO:0035112) | 2.88726325 |
| 77 | synapsis (GO:0007129) | 2.88470591 |
| 78 | negative regulation of cytosolic calcium ion concentration (GO:0051481) | 2.87123101 |
| 79 | regulation of centriole replication (GO:0046599) | 2.86646717 |
| 80 | presynaptic membrane organization (GO:0097090) | 2.84371929 |
| 81 | membrane depolarization during action potential (GO:0086010) | 2.83501391 |
| 82 | neuronal action potential (GO:0019228) | 2.83287289 |
| 83 | spermatid nucleus differentiation (GO:0007289) | 2.81892709 |
| 84 | transmission of nerve impulse (GO:0019226) | 2.80237309 |
| 85 | mitotic sister chromatid cohesion (GO:0007064) | 2.79515379 |
| 86 | ketone body metabolic process (GO:1902224) | 2.79118320 |
| 87 | regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091 | 2.78783114 |
| 88 | cell projection assembly (GO:0030031) | 2.78573523 |
| 89 | presynaptic membrane assembly (GO:0097105) | 2.78184993 |
| 90 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 2.73500605 |
| 91 | fucose catabolic process (GO:0019317) | 2.72637877 |
| 92 | L-fucose metabolic process (GO:0042354) | 2.72637877 |
| 93 | L-fucose catabolic process (GO:0042355) | 2.72637877 |
| 94 | glutamate receptor signaling pathway (GO:0007215) | 2.70788171 |
| 95 | ionotropic glutamate receptor signaling pathway (GO:0035235) | 2.70509311 |
| 96 | startle response (GO:0001964) | 2.70080130 |
| 97 | smoothened signaling pathway (GO:0007224) | 2.68937160 |
| 98 | determination of left/right symmetry (GO:0007368) | 2.68083928 |
| 99 | sensory perception of smell (GO:0007608) | 2.66511007 |
| 100 | microtubule bundle formation (GO:0001578) | 2.66362563 |
| 101 | negative regulation of appetite (GO:0032099) | 2.63811898 |
| 102 | negative regulation of response to food (GO:0032096) | 2.63811898 |
| 103 | GTP biosynthetic process (GO:0006183) | 2.63158723 |
| 104 | dopamine transport (GO:0015872) | 2.61842126 |
| 105 | mechanosensory behavior (GO:0007638) | 2.61288550 |
| 106 | gamma-aminobutyric acid transport (GO:0015812) | 2.60808937 |
| 107 | synaptic transmission, glutamatergic (GO:0035249) | 2.59555288 |
| 108 | neuron cell-cell adhesion (GO:0007158) | 2.57033091 |
| 109 | calcium ion import (GO:0070509) | 2.56696315 |
| 110 | multicellular organismal development (GO:0007275) | 2.56081519 |
| 111 | spinal cord motor neuron differentiation (GO:0021522) | 2.55583503 |
| 112 | centriole replication (GO:0007099) | 2.55351297 |
| 113 | brain morphogenesis (GO:0048854) | 2.54194362 |
| 114 | regulation of protein kinase A signaling (GO:0010738) | 2.52892632 |
| 115 | determination of bilateral symmetry (GO:0009855) | 2.51321537 |
| 116 | nephron epithelium morphogenesis (GO:0072088) | 2.48365112 |
| 117 | nephron tubule morphogenesis (GO:0072078) | 2.48365112 |
| 118 | serotonin metabolic process (GO:0042428) | 2.47610786 |
| 119 | inositol phosphate catabolic process (GO:0071545) | 2.47572162 |
| 120 | G-protein coupled glutamate receptor signaling pathway (GO:0007216) | 2.47530339 |
| 121 | meiotic cell cycle process (GO:1903046) | 2.46585613 |
| 122 | neuron-neuron synaptic transmission (GO:0007270) | 2.45737032 |
| 123 | protein refolding (GO:0042026) | 2.44551749 |
| 124 | dendritic spine morphogenesis (GO:0060997) | 2.44056765 |
| 125 | specification of symmetry (GO:0009799) | 2.43973649 |
| 126 | neurotransmitter metabolic process (GO:0042133) | 2.43803635 |
| 127 | UTP biosynthetic process (GO:0006228) | 2.43634411 |
| 128 | regulation of short-term neuronal synaptic plasticity (GO:0048172) | 2.43266555 |
| 129 | postsynaptic membrane organization (GO:0001941) | 2.43058077 |
| 130 | negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class | 2.43006891 |
| 131 | vocalization behavior (GO:0071625) | 2.41915024 |
| 132 | primary amino compound metabolic process (GO:1901160) | 2.41848615 |
| 133 | detection of light stimulus involved in sensory perception (GO:0050962) | 2.41209797 |
| 134 | detection of light stimulus involved in visual perception (GO:0050908) | 2.41209797 |
| 135 | regulation of inhibitory postsynaptic membrane potential (GO:0060080) | 2.41019082 |
| 136 | negative regulation of glycogen biosynthetic process (GO:0045719) | 2.39644989 |
| 137 | synaptic vesicle docking involved in exocytosis (GO:0016081) | 2.39266390 |
| 138 | protein K11-linked deubiquitination (GO:0035871) | 2.39032906 |
| 139 | glycerophospholipid catabolic process (GO:0046475) | 2.38424495 |
| 140 | cochlea development (GO:0090102) | 2.37976914 |
| 141 | insulin secretion (GO:0030073) | 2.37687323 |
| 142 | regulation of chromatin binding (GO:0035561) | 2.37152513 |
| 143 | proline transport (GO:0015824) | 2.36860430 |
| 144 | left/right axis specification (GO:0070986) | 2.36396991 |
| 145 | detection of mechanical stimulus involved in sensory perception of sound (GO:0050910) | 2.34294893 |
| 146 | positive regulation of phosphoprotein phosphatase activity (GO:0032516) | 2.33403437 |
| 147 | renal tubule morphogenesis (GO:0061333) | 2.32607604 |
| 148 | positive regulation of excitatory postsynaptic membrane potential (GO:2000463) | 2.32103560 |
| 149 | photoreceptor cell development (GO:0042461) | 2.32090784 |
| 150 | nuclear pore complex assembly (GO:0051292) | 2.31933662 |
| 151 | short-term memory (GO:0007614) | 2.31902531 |
| 152 | cornea development in camera-type eye (GO:0061303) | 2.31890475 |
| 153 | positive regulation of meiosis (GO:0045836) | 2.31888658 |
| 154 | glycerol ether metabolic process (GO:0006662) | 2.31663408 |
| 155 | regulation of neurotransmitter uptake (GO:0051580) | 2.31386080 |
| 156 | phosphorylated carbohydrate dephosphorylation (GO:0046838) | 2.30235461 |
| 157 | inositol phosphate dephosphorylation (GO:0046855) | 2.30235461 |
| 158 | chaperone-mediated protein complex assembly (GO:0051131) | 2.29782537 |
| 159 | negative regulation of synaptic transmission, GABAergic (GO:0032229) | 2.28371026 |
| 160 | neuronal action potential propagation (GO:0019227) | 2.28148669 |
| 161 | action potential (GO:0001508) | 2.27847949 |
| 162 | detection of calcium ion (GO:0005513) | 2.27461630 |
| 163 | behavioral response to ethanol (GO:0048149) | 2.26044258 |
| 164 | microtubule polymerization or depolymerization (GO:0031109) | 2.25279018 |
| 165 | water-soluble vitamin biosynthetic process (GO:0042364) | 2.24135585 |
| 166 | respiratory chain complex IV assembly (GO:0008535) | 2.23601204 |
| 167 | potassium ion transmembrane transport (GO:0071805) | 2.23595493 |
| 168 | cellular potassium ion transport (GO:0071804) | 2.23595493 |
| 169 | inner ear receptor stereocilium organization (GO:0060122) | 2.22850330 |
| 170 | urinary tract smooth muscle contraction (GO:0014848) | 2.21013020 |
| 171 | synapse assembly (GO:0007416) | 2.20931855 |
| 172 | cilium or flagellum-dependent cell motility (GO:0001539) | 11.7978500 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 6.62788373 |
| 2 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 6.21677588 |
| 3 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 3.18903185 |
| 4 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 3.03926041 |
| 5 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 3.01487545 |
| 6 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.60258338 |
| 7 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.52398164 |
| 8 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.44465945 |
| 9 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.16651383 |
| 10 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.10031810 |
| 11 | REST_21632747_ChIP-Seq_MESCs_Mouse | 2.10016108 |
| 12 | IGF1R_20145208_ChIP-Seq_DFB_Human | 2.02980357 |
| 13 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.97445698 |
| 14 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.92436391 |
| 15 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.80073849 |
| 16 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.70631281 |
| 17 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.67229374 |
| 18 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.65904295 |
| 19 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.63945680 |
| 20 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.60599704 |
| 21 | VDR_22108803_ChIP-Seq_LS180_Human | 1.58779359 |
| 22 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.53718870 |
| 23 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.53718870 |
| 24 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.53309833 |
| 25 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.52003493 |
| 26 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.50668452 |
| 27 | SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.48192004 |
| 28 | EWS_26573619_Chip-Seq_HEK293_Human | 1.47475804 |
| 29 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.46496587 |
| 30 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.46221929 |
| 31 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.45444361 |
| 32 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.45240659 |
| 33 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.43944394 |
| 34 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.43708705 |
| 35 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.43536912 |
| 36 | OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.39234961 |
| 37 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.39071284 |
| 38 | RARB_27405468_Chip-Seq_BRAIN_Mouse | 1.38017049 |
| 39 | SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 1.37634489 |
| 40 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.37404192 |
| 41 | TCF4_23295773_ChIP-Seq_U87_Human | 1.37106162 |
| 42 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.35751727 |
| 43 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.34029500 |
| 44 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 1.33478118 |
| 45 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.31956970 |
| 46 | FUS_26573619_Chip-Seq_HEK293_Human | 1.30811977 |
| 47 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.30646835 |
| 48 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.30557208 |
| 49 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.30304249 |
| 50 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.30153760 |
| 51 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.29528217 |
| 52 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.28828225 |
| 53 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.28828225 |
| 54 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.27465767 |
| 55 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.26918475 |
| 56 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.25552043 |
| 57 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.25540221 |
| 58 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 1.24705715 |
| 59 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.22587763 |
| 60 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 1.22412652 |
| 61 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.21582040 |
| 62 | STAT3_23295773_ChIP-Seq_U87_Human | 1.21083555 |
| 63 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.20133899 |
| 64 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.19332472 |
| 65 | RCOR3_21632747_ChIP-Seq_MESCs_Mouse | 1.19321453 |
| 66 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.19103632 |
| 67 | REST_18959480_ChIP-ChIP_MESCs_Mouse | 1.18240466 |
| 68 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.18069576 |
| 69 | KDM2B_26808549_Chip-Seq_REH_Human | 1.18057726 |
| 70 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 1.18030387 |
| 71 | SOX2_21211035_ChIP-Seq_LN229_Gbm | 1.17225689 |
| 72 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.16252603 |
| 73 | CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons | 1.16203523 |
| 74 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.16122761 |
| 75 | RNF2_27304074_Chip-Seq_ESCs_Mouse | 1.14960065 |
| 76 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.14482582 |
| 77 | SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 1.14066740 |
| 78 | GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.13916647 |
| 79 | MTF2_20144788_ChIP-Seq_MESCs_Mouse | 1.12844388 |
| 80 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.12780184 |
| 81 | SUZ12_18692474_ChIP-Seq_MEFs_Mouse | 1.12509699 |
| 82 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 1.11713990 |
| 83 | SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 1.11182403 |
| 84 | TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse | 1.11104483 |
| 85 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.11077382 |
| 86 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.10960863 |
| 87 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.10929822 |
| 88 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.10929822 |
| 89 | SOX9_26525672_Chip-Seq_HEART_Mouse | 1.10652177 |
| 90 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.10311558 |
| 91 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.10234288 |
| 92 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.08736742 |
| 93 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 1.08649496 |
| 94 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.08462156 |
| 95 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.08306982 |
| 96 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.07857200 |
| 97 | FOXM1_26456572_ChIP-Seq_MCF-7_Human | 1.07439515 |
| 98 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.06611930 |
| 99 | P300_19829295_ChIP-Seq_ESCs_Human | 1.05997501 |
| 100 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.05649555 |
| 101 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.05294715 |
| 102 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.05270983 |
| 103 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.05270983 |
| 104 | SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 1.04552740 |
| 105 | FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.04167135 |
| 106 | CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.03643974 |
| 107 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.03606665 |
| 108 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.03246468 |
| 109 | P53_22387025_ChIP-Seq_ESCs_Mouse | 1.03093651 |
| 110 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.00218566 |
| 111 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.98971267 |
| 112 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 0.98447299 |
| 113 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 0.97596025 |
| 114 | GF1B_26923725_Chip-Seq_HPCs_Mouse | 0.96924666 |
| 115 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 0.96657342 |
| 116 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 0.96300340 |
| 117 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 0.95503522 |
| 118 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 0.95042276 |
| 119 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 0.94185110 |
| 120 | STAT1_17558387_ChIP-Seq_HELA_Human | 0.93751416 |
| 121 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 0.93654521 |
| 122 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.93522486 |
| 123 | E2F1_18555785_Chip-Seq_ESCs_Mouse | 0.92726360 |
| 124 | RUNX2_22187159_ChIP-Seq_PCA_Human | 0.92383340 |
| 125 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 0.91900259 |
| 126 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 0.91816825 |
| 127 | P300_18555785_Chip-Seq_ESCs_Mouse | 0.90992264 |
| 128 | SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 0.90106072 |
| 129 | AR_25329375_ChIP-Seq_VCAP_Human | 0.89310562 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 9.17819668 |
| 2 | MP0003698_abnormal_male_reproductive | 3.93941689 |
| 3 | MP0008877_abnormal_DNA_methylation | 3.93469811 |
| 4 | MP0001929_abnormal_gametogenesis | 3.47638311 |
| 5 | MP0001984_abnormal_olfaction | 3.38777305 |
| 6 | MP0004859_abnormal_synaptic_plasticity | 2.89449638 |
| 7 | MP0002653_abnormal_ependyma_morphology | 2.88334265 |
| 8 | MP0009046_muscle_twitch | 2.61550314 |
| 9 | MP0002210_abnormal_sex_determination | 2.58048204 |
| 10 | MP0008875_abnormal_xenobiotic_pharmacok | 2.33083902 |
| 11 | MP0005623_abnormal_meninges_morphology | 2.26513957 |
| 12 | MP0003880_abnormal_central_pattern | 2.24452514 |
| 13 | MP0004270_analgesia | 2.22801602 |
| 14 | MP0002160_abnormal_reproductive_system | 2.22299511 |
| 15 | MP0002161_abnormal_fertility/fecundity | 2.14423488 |
| 16 | MP0003635_abnormal_synaptic_transmissio | 2.12604118 |
| 17 | MP0001145_abnormal_male_reproductive | 2.12351734 |
| 18 | MP0004133_heterotaxia | 2.12263030 |
| 19 | MP0003787_abnormal_imprinting | 2.06041804 |
| 20 | MP0002638_abnormal_pupillary_reflex | 1.88396456 |
| 21 | MP0000653_abnormal_sex_gland | 1.86944847 |
| 22 | MP0002837_dystrophic_cardiac_calcinosis | 1.85186221 |
| 23 | MP0002876_abnormal_thyroid_physiology | 1.82799779 |
| 24 | MP0003195_calcinosis | 1.80194509 |
| 25 | MP0002063_abnormal_learning/memory/cond | 1.76933679 |
| 26 | MP0009745_abnormal_behavioral_response | 1.62074179 |
| 27 | MP0010386_abnormal_urinary_bladder | 1.59499982 |
| 28 | MP0004885_abnormal_endolymph | 1.55842524 |
| 29 | MP0002572_abnormal_emotion/affect_behav | 1.54818258 |
| 30 | MP0002272_abnormal_nervous_system | 1.53123248 |
| 31 | MP0002909_abnormal_adrenal_gland | 1.50792816 |
| 32 | MP0002064_seizures | 1.50769290 |
| 33 | MP0001486_abnormal_startle_reflex | 1.44206326 |
| 34 | MP0002102_abnormal_ear_morphology | 1.42165207 |
| 35 | MP0002734_abnormal_mechanical_nocicepti | 1.41069478 |
| 36 | MP0002822_catalepsy | 1.40055426 |
| 37 | MP0004142_abnormal_muscle_tone | 1.39214126 |
| 38 | MP0000569_abnormal_digit_pigmentation | 1.38716509 |
| 39 | MP0008872_abnormal_physiological_respon | 1.38323686 |
| 40 | MP0001905_abnormal_dopamine_level | 1.37390799 |
| 41 | MP0005551_abnormal_eye_electrophysiolog | 1.32266728 |
| 42 | MP0001968_abnormal_touch/_nociception | 1.31152532 |
| 43 | MP0005646_abnormal_pituitary_gland | 1.30659599 |
| 44 | MP0009780_abnormal_chondrocyte_physiolo | 1.29950054 |
| 45 | MP0001485_abnormal_pinna_reflex | 1.27403969 |
| 46 | MP0002928_abnormal_bile_duct | 1.26258560 |
| 47 | MP0005423_abnormal_somatic_nervous | 1.25764595 |
| 48 | MP0001944_abnormal_pancreas_morphology | 1.24690306 |
| 49 | MP0000778_abnormal_nervous_system | 1.24379923 |
| 50 | MP0003136_yellow_coat_color | 1.22313606 |
| 51 | MP0000383_abnormal_hair_follicle | 1.20873148 |
| 52 | MP0002184_abnormal_innervation | 1.18317510 |
| 53 | MP0001440_abnormal_grooming_behavior | 1.18066535 |
| 54 | MP0000427_abnormal_hair_cycle | 1.17870587 |
| 55 | MP0005084_abnormal_gallbladder_morpholo | 1.16557841 |
| 56 | MP0002557_abnormal_social/conspecific_i | 1.16322220 |
| 57 | MP0003122_maternal_imprinting | 1.13894052 |
| 58 | MP0002067_abnormal_sensory_capabilities | 1.12093132 |
| 59 | MP0008569_lethality_at_weaning | 1.11743489 |
| 60 | MP0005394_taste/olfaction_phenotype | 1.09402501 |
| 61 | MP0005499_abnormal_olfactory_system | 1.09402501 |
| 62 | MP0004019_abnormal_vitamin_homeostasis | 1.09400869 |
| 63 | MP0005389_reproductive_system_phenotype | 1.08314136 |
| 64 | MP0008995_early_reproductive_senescence | 1.06889827 |
| 65 | MP0002277_abnormal_respiratory_mucosa | 1.06113380 |
| 66 | MP0002938_white_spotting | 1.04282071 |
| 67 | MP0003121_genomic_imprinting | 1.03354705 |
| 68 | MP0001986_abnormal_taste_sensitivity | 1.02704769 |
| 69 | MP0004811_abnormal_neuron_physiology | 1.02081262 |
| 70 | MP0002282_abnormal_trachea_morphology | 1.01438282 |
| 71 | MP0004215_abnormal_myocardial_fiber | 1.01359279 |
| 72 | MP0002152_abnormal_brain_morphology | 1.00812831 |
| 73 | MP0002693_abnormal_pancreas_physiology | 0.99039098 |
| 74 | MP0001529_abnormal_vocalization | 0.98525168 |
| 75 | MP0003123_paternal_imprinting | 0.97856921 |
| 76 | MP0004147_increased_porphyrin_level | 0.97817174 |
| 77 | MP0005645_abnormal_hypothalamus_physiol | 0.97781061 |
| 78 | MP0004742_abnormal_vestibular_system | 0.97634738 |
| 79 | MP0000026_abnormal_inner_ear | 0.97475602 |
| 80 | MP0002882_abnormal_neuron_morphology | 0.96258539 |
| 81 | MP0006072_abnormal_retinal_apoptosis | 0.95175847 |
| 82 | MP0003646_muscle_fatigue | 0.93471065 |
| 83 | MP0000955_abnormal_spinal_cord | 0.92389062 |
| 84 | MP0004233_abnormal_muscle_weight | 0.91740128 |
| 85 | MP0010329_abnormal_lipoprotein_level | 0.90240422 |
| 86 | MP0003011_delayed_dark_adaptation | 0.90002232 |
| 87 | MP0005195_abnormal_posterior_eye | 0.89751244 |
| 88 | MP0002736_abnormal_nociception_after | 0.88495640 |
| 89 | MP0003890_abnormal_embryonic-extraembry | 0.87348367 |
| 90 | MP0000566_synostosis | 0.85842339 |
| 91 | MP0003879_abnormal_hair_cell | 0.85512193 |
| 92 | MP0000372_irregular_coat_pigmentation | 0.85250198 |
| 93 | MP0004085_abnormal_heartbeat | 0.85220967 |
| 94 | MP0001963_abnormal_hearing_physiology | 0.84958175 |
| 95 | MP0001765_abnormal_ion_homeostasis | 0.83430246 |
| 96 | MP0005253_abnormal_eye_physiology | 0.83066318 |
| 97 | MP0010678_abnormal_skin_adnexa | 0.82657551 |
| 98 | MP0003861_abnormal_nervous_system | 0.82502801 |
| 99 | MP0003878_abnormal_ear_physiology | 0.82123679 |
| 100 | MP0005377_hearing/vestibular/ear_phenot | 0.82123679 |
| 101 | MP0001501_abnormal_sleep_pattern | 0.81137216 |
| 102 | MP0001756_abnormal_urination | 0.79286979 |
| 103 | MP0008789_abnormal_olfactory_epithelium | 0.78043550 |
| 104 | MP0002066_abnormal_motor_capabilities/c | 0.77435744 |
| 105 | MP0000534_abnormal_ureter_morphology | 0.76501157 |
| 106 | MP0002229_neurodegeneration | 0.76256448 |
| 107 | MP0000013_abnormal_adipose_tissue | 0.75899586 |
| 108 | MP0000631_abnormal_neuroendocrine_gland | 0.75787086 |
| 109 | MP0002735_abnormal_chemical_nociception | 0.75175751 |
| 110 | MP0006276_abnormal_autonomic_nervous | 0.74430973 |
| 111 | MP0002234_abnormal_pharynx_morphology | 0.74104811 |
| 112 | MP0002752_abnormal_somatic_nervous | 0.74070740 |
| 113 | MP0005386_behavior/neurological_phenoty | 0.73382912 |
| 114 | MP0004924_abnormal_behavior | 0.73382912 |
| 115 | MP0001188_hyperpigmentation | 0.72652640 |
| 116 | MP0008058_abnormal_DNA_repair | 0.70727018 |
| 117 | MP0001970_abnormal_pain_threshold | 0.67903245 |
| 118 | MP0000751_myopathy | 0.66621839 |
| 119 | MP0004134_abnormal_chest_morphology | 0.65755068 |
| 120 | MP0003283_abnormal_digestive_organ | 0.65518455 |
| 121 | MP0003329_amyloid_beta_deposits | 0.65382547 |
| 122 | MP0002733_abnormal_thermal_nociception | 0.64817127 |
| 123 | MP0002163_abnormal_gland_morphology | 0.63491317 |
| 124 | MP0004145_abnormal_muscle_electrophysio | 0.62486397 |
| 125 | MP0004043_abnormal_pH_regulation | 0.61954029 |
| 126 | MP0003631_nervous_system_phenotype | 0.61863683 |
| 127 | MP0001502_abnormal_circadian_rhythm | 0.60781734 |
| 128 | MP0005367_renal/urinary_system_phenotyp | 0.60520430 |
| 129 | MP0000516_abnormal_urinary_system | 0.60520430 |
| 130 | MP0008057_abnormal_DNA_replication | 0.60367172 |
| 131 | MP0003632_abnormal_nervous_system | 0.60109799 |
| 132 | MP0005379_endocrine/exocrine_gland_phen | 0.59045860 |
| 133 | MP0003633_abnormal_nervous_system | 0.57943724 |
| 134 | MP0001177_atelectasis | 0.57401670 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal respiratory motile cilium physiology (HP:0012261) | 8.16679338 |
| 2 | Abnormal respiratory motile cilium morphology (HP:0005938) | 7.52978379 |
| 3 | Abnormal respiratory epithelium morphology (HP:0012253) | 7.52978379 |
| 4 | Abnormal ciliary motility (HP:0012262) | 6.95374877 |
| 5 | Rhinitis (HP:0012384) | 6.82237262 |
| 6 | Chronic bronchitis (HP:0004469) | 6.09918233 |
| 7 | Infertility (HP:0000789) | 4.87055490 |
| 8 | Nasal polyposis (HP:0100582) | 3.93950393 |
| 9 | Nephronophthisis (HP:0000090) | 3.93172854 |
| 10 | Bronchiectasis (HP:0002110) | 3.82701361 |
| 11 | Chronic hepatic failure (HP:0100626) | 3.37223540 |
| 12 | Abnormality of the nasal mucosa (HP:0000433) | 3.20155424 |
| 13 | Molar tooth sign on MRI (HP:0002419) | 3.16176218 |
| 14 | Abnormality of midbrain morphology (HP:0002418) | 3.16176218 |
| 15 | Abnormality of the renal medulla (HP:0100957) | 3.11704296 |
| 16 | Occipital encephalocele (HP:0002085) | 3.11478451 |
| 17 | Bronchitis (HP:0012387) | 3.06139501 |
| 18 | Tubulointerstitial nephritis (HP:0001970) | 2.87283262 |
| 19 | Male infertility (HP:0003251) | 2.87204996 |
| 20 | Abnormality of the lower motor neuron (HP:0002366) | 2.86063400 |
| 21 | Medial flaring of the eyebrow (HP:0010747) | 2.75263254 |
| 22 | Hyperventilation (HP:0002883) | 2.55430899 |
| 23 | Furrowed tongue (HP:0000221) | 2.47899016 |
| 24 | Chronic sinusitis (HP:0011109) | 2.39212713 |
| 25 | Limb dystonia (HP:0002451) | 2.36402045 |
| 26 | Fibular hypoplasia (HP:0003038) | 2.34669561 |
| 27 | Sclerocornea (HP:0000647) | 2.33059492 |
| 28 | Congenital stationary night blindness (HP:0007642) | 2.29745482 |
| 29 | Retinal dysplasia (HP:0007973) | 2.28896642 |
| 30 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.28575845 |
| 31 | Male pseudohermaphroditism (HP:0000037) | 2.27434260 |
| 32 | Recurrent otitis media (HP:0000403) | 2.24619942 |
| 33 | Progressive cerebellar ataxia (HP:0002073) | 2.23532043 |
| 34 | Gaze-evoked nystagmus (HP:0000640) | 2.21585678 |
| 35 | Anencephaly (HP:0002323) | 2.18270232 |
| 36 | Gait imbalance (HP:0002141) | 2.16960646 |
| 37 | Large for gestational age (HP:0001520) | 2.16325758 |
| 38 | Decreased circulating renin level (HP:0003351) | 2.16103227 |
| 39 | Tubular atrophy (HP:0000092) | 2.11178708 |
| 40 | Focal motor seizures (HP:0011153) | 2.10498995 |
| 41 | Absent frontal sinuses (HP:0002688) | 2.10470913 |
| 42 | Atonic seizures (HP:0010819) | 2.07945918 |
| 43 | Congenital primary aphakia (HP:0007707) | 2.07921384 |
| 44 | Supernumerary spleens (HP:0009799) | 2.07339681 |
| 45 | Tubulointerstitial abnormality (HP:0001969) | 2.05736576 |
| 46 | Broad-based gait (HP:0002136) | 2.04688782 |
| 47 | Pancreatic fibrosis (HP:0100732) | 2.03674456 |
| 48 | Gonadotropin excess (HP:0000837) | 2.03431169 |
| 49 | Dyschromatopsia (HP:0007641) | 2.02096289 |
| 50 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 10.7332741 |
| 51 | Absent/shortened dynein arms (HP:0200106) | 10.1465143 |
| 52 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 10.1465143 |
| 53 | Abnormal spermatogenesis (HP:0008669) | 1.99925418 |
| 54 | Hypothermia (HP:0002045) | 1.98869438 |
| 55 | Median cleft lip (HP:0000161) | 1.96383952 |
| 56 | Oculomotor apraxia (HP:0000657) | 1.94515223 |
| 57 | Recurrent sinusitis (HP:0011108) | 1.94475898 |
| 58 | Postaxial hand polydactyly (HP:0001162) | 1.93699142 |
| 59 | Amyotrophic lateral sclerosis (HP:0007354) | 1.91613723 |
| 60 | Nephrogenic diabetes insipidus (HP:0009806) | 1.90916176 |
| 61 | Focal seizures (HP:0007359) | 1.90826319 |
| 62 | Postaxial foot polydactyly (HP:0001830) | 1.90283939 |
| 63 | Dialeptic seizures (HP:0011146) | 1.90194127 |
| 64 | Short ribs (HP:0000773) | 1.89573677 |
| 65 | Absent speech (HP:0001344) | 1.89167571 |
| 66 | Decreased central vision (HP:0007663) | 1.86372968 |
| 67 | Congenital hepatic fibrosis (HP:0002612) | 1.86107379 |
| 68 | Polyphagia (HP:0002591) | 1.86040727 |
| 69 | True hermaphroditism (HP:0010459) | 1.84263006 |
| 70 | Bifid tongue (HP:0010297) | 1.82993908 |
| 71 | Epileptiform EEG discharges (HP:0011182) | 1.79426430 |
| 72 | Epileptic encephalopathy (HP:0200134) | 1.79136677 |
| 73 | Myokymia (HP:0002411) | 1.77741071 |
| 74 | Facial cleft (HP:0002006) | 1.77589113 |
| 75 | Cone-shaped epiphyses of the phalanges of the hand (HP:0010230) | 1.75784857 |
| 76 | Genital tract atresia (HP:0001827) | 1.75506626 |
| 77 | Stage 5 chronic kidney disease (HP:0003774) | 1.75318066 |
| 78 | Polyuria (HP:0000103) | 1.74869587 |
| 79 | EEG with generalized epileptiform discharges (HP:0011198) | 1.74016701 |
| 80 | Cerebellar dysplasia (HP:0007033) | 1.73075820 |
| 81 | Abnormality of ocular smooth pursuit (HP:0000617) | 1.72708305 |
| 82 | Vaginal atresia (HP:0000148) | 1.72221405 |
| 83 | Agitation (HP:0000713) | 1.70800536 |
| 84 | Specific learning disability (HP:0001328) | 1.70464972 |
| 85 | Narrow forehead (HP:0000341) | 1.70266911 |
| 86 | Retinitis pigmentosa (HP:0000510) | 1.69933680 |
| 87 | Prominent nasal bridge (HP:0000426) | 1.68493607 |
| 88 | Abnormality of dentin (HP:0010299) | 1.67710438 |
| 89 | Hypsarrhythmia (HP:0002521) | 1.67298727 |
| 90 | Abolished electroretinogram (ERG) (HP:0000550) | 1.67285197 |
| 91 | Attenuation of retinal blood vessels (HP:0007843) | 1.66228771 |
| 92 | Central scotoma (HP:0000603) | 1.65853589 |
| 93 | Preaxial hand polydactyly (HP:0001177) | 1.65820373 |
| 94 | Cystic liver disease (HP:0006706) | 1.64588921 |
| 95 | Lissencephaly (HP:0001339) | 1.61263511 |
| 96 | Left ventricular hypertrophy (HP:0001712) | 1.61192210 |
| 97 | Epiphyseal dysplasia (HP:0002656) | 1.60431975 |
| 98 | Aplasia/Hypoplasia of the tibia (HP:0005772) | 1.59410967 |
| 99 | Hemiparesis (HP:0001269) | 1.59335830 |
| 100 | Renal cortical cysts (HP:0000803) | 1.58753078 |
| 101 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.58281566 |
| 102 | Polydipsia (HP:0001959) | 1.57146117 |
| 103 | Abnormal drinking behavior (HP:0030082) | 1.57146117 |
| 104 | Intestinal atresia (HP:0011100) | 1.55015303 |
| 105 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 1.54771585 |
| 106 | Bell-shaped thorax (HP:0001591) | 1.54622612 |
| 107 | Absent epiphyses (HP:0010577) | 1.54569313 |
| 108 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.54569313 |
| 109 | Congenital sensorineural hearing impairment (HP:0008527) | 1.53903071 |
| 110 | Impaired smooth pursuit (HP:0007772) | 1.52846950 |
| 111 | Poor coordination (HP:0002370) | 1.52787800 |
| 112 | Abnormality of renin-angiotensin system (HP:0000847) | 1.52707006 |
| 113 | Papillary thyroid carcinoma (HP:0002895) | 1.52687238 |
| 114 | Azoospermia (HP:0000027) | 1.52375120 |
| 115 | Short foot (HP:0001773) | 1.51726574 |
| 116 | Hyperactive renin-angiotensin system (HP:0000841) | 1.51718294 |
| 117 | Progressive macrocephaly (HP:0004481) | 1.51643723 |
| 118 | Aplasia/Hypoplasia of the frontal sinuses (HP:0009119) | 1.51055793 |
| 119 | Aplasia/Hypoplasia of the fibula (HP:0006492) | 1.50449482 |
| 120 | Choroideremia (HP:0001139) | 1.50098071 |
| 121 | Absence seizures (HP:0002121) | 1.49401823 |
| 122 | Abnormality of macular pigmentation (HP:0008002) | 1.48776469 |
| 123 | Febrile seizures (HP:0002373) | 1.48493991 |
| 124 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.47276171 |
| 125 | Short femoral neck (HP:0100864) | 1.45104201 |
| 126 | Short thorax (HP:0010306) | 1.44539842 |
| 127 | Visual hallucinations (HP:0002367) | 1.44066519 |
| 128 | Impulsivity (HP:0100710) | 1.43807171 |
| 129 | Absent eyebrow (HP:0002223) | 1.42809711 |
| 130 | Impaired vibration sensation in the lower limbs (HP:0002166) | 1.42368057 |
| 131 | Type II lissencephaly (HP:0007260) | 1.41578531 |
| 132 | Irregular epiphyses (HP:0010582) | 1.40821714 |
| 133 | Action tremor (HP:0002345) | 1.40751566 |
| 134 | Tubulointerstitial fibrosis (HP:0005576) | 1.40259578 |
| 135 | Abnormality of permanent molar morphology (HP:0011071) | 1.39894775 |
| 136 | Abnormality of the dental root (HP:0006486) | 1.39894775 |
| 137 | Taurodontia (HP:0000679) | 1.39894775 |
| 138 | Abnormality of the epiphyses of the phalanges of the hand (HP:0005920) | 1.39814930 |
| 139 | Pancreatic cysts (HP:0001737) | 1.39515257 |
| 140 | Abnormality of the renal cortex (HP:0011035) | 1.39331921 |
| 141 | Vitreoretinal degeneration (HP:0000655) | 1.39304931 |
| 142 | Bony spicule pigmentary retinopathy (HP:0007737) | 1.38972194 |
| 143 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.37489315 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK3 | 6.92742321 |
| 2 | PDK4 | 6.92742321 |
| 3 | PDK2 | 4.41526496 |
| 4 | PRKD3 | 4.28955973 |
| 5 | PNCK | 3.76114682 |
| 6 | TESK1 | 3.17903166 |
| 7 | ICK | 2.69707990 |
| 8 | BMPR1B | 2.43425335 |
| 9 | MAP4K2 | 2.38422655 |
| 10 | WNK4 | 2.27858728 |
| 11 | STK39 | 2.26775136 |
| 12 | MST4 | 2.16423712 |
| 13 | PTK2B | 1.99652007 |
| 14 | NTRK3 | 1.94421158 |
| 15 | ADRBK2 | 1.91782112 |
| 16 | LMTK2 | 1.90207026 |
| 17 | MAP3K4 | 1.86809138 |
| 18 | INSRR | 1.82501570 |
| 19 | GRK1 | 1.76595460 |
| 20 | EPHA4 | 1.76276983 |
| 21 | MAP3K12 | 1.72128187 |
| 22 | ACVR1B | 1.61804230 |
| 23 | FGFR2 | 1.61110144 |
| 24 | WNK1 | 1.59352974 |
| 25 | PHKG2 | 1.49016866 |
| 26 | PHKG1 | 1.49016866 |
| 27 | TNIK | 1.47865983 |
| 28 | STK38 | 1.47318321 |
| 29 | MAPK15 | 1.37582231 |
| 30 | MAP2K7 | 1.33639027 |
| 31 | PRKCE | 1.18363005 |
| 32 | MINK1 | 1.13343763 |
| 33 | TAOK3 | 1.10813620 |
| 34 | CAMK1G | 1.02443952 |
| 35 | CAMKK1 | 1.02238311 |
| 36 | MARK1 | 1.00740870 |
| 37 | NEK2 | 0.99904224 |
| 38 | TLK1 | 0.99134705 |
| 39 | TYRO3 | 0.98804626 |
| 40 | PAK6 | 0.98113597 |
| 41 | CSNK1G1 | 0.95219935 |
| 42 | PLK2 | 0.91569682 |
| 43 | BCR | 0.91395919 |
| 44 | AKT3 | 0.90098891 |
| 45 | NTRK2 | 0.88014721 |
| 46 | CAMKK2 | 0.87574696 |
| 47 | CCNB1 | 0.86560369 |
| 48 | MKNK2 | 0.85007364 |
| 49 | MAP2K6 | 0.84939629 |
| 50 | ADRBK1 | 0.83467911 |
| 51 | NME1 | 0.82404605 |
| 52 | EPHA3 | 0.81765066 |
| 53 | PRKCG | 0.81653800 |
| 54 | ZAK | 0.80834654 |
| 55 | PDK1 | 0.80519958 |
| 56 | MAPKAPK3 | 0.80202387 |
| 57 | CSNK1G3 | 0.80105597 |
| 58 | NUAK1 | 0.77438595 |
| 59 | DAPK2 | 0.71874411 |
| 60 | OXSR1 | 0.71373244 |
| 61 | STK38L | 0.71353864 |
| 62 | CDC7 | 0.70939495 |
| 63 | ERBB3 | 0.69703139 |
| 64 | STK3 | 0.69300930 |
| 65 | WNK3 | 0.68053483 |
| 66 | PASK | 0.66788943 |
| 67 | CAMK2B | 0.64170460 |
| 68 | TIE1 | 0.63811421 |
| 69 | DYRK2 | 0.60927298 |
| 70 | TTK | 0.60466068 |
| 71 | PINK1 | 0.60445785 |
| 72 | PRKG1 | 0.59991633 |
| 73 | NTRK1 | 0.58054436 |
| 74 | CSNK1A1L | 0.57844205 |
| 75 | STK11 | 0.56541557 |
| 76 | MAPKAPK5 | 0.56364283 |
| 77 | TRPM7 | 0.54534796 |
| 78 | CHEK2 | 0.54103655 |
| 79 | MAP3K9 | 0.54073008 |
| 80 | CDK5 | 0.53869153 |
| 81 | MAP2K4 | 0.53376752 |
| 82 | RIPK4 | 0.52815738 |
| 83 | PRKACA | 0.52804575 |
| 84 | CAMK2A | 0.51661594 |
| 85 | NLK | 0.50066674 |
| 86 | CHEK1 | 0.49695647 |
| 87 | SGK494 | 0.48894618 |
| 88 | SGK223 | 0.48894618 |
| 89 | SIK2 | 0.48784526 |
| 90 | MUSK | 0.48723582 |
| 91 | CDK3 | 0.48324764 |
| 92 | STK16 | 0.48042673 |
| 93 | NEK6 | 0.47687716 |
| 94 | PKN1 | 0.47337116 |
| 95 | CASK | 0.47242604 |
| 96 | DYRK1B | 0.45775232 |
| 97 | PDPK1 | 0.44081992 |
| 98 | CSNK1A1 | 0.43936468 |
| 99 | TRIM28 | 0.43933048 |
| 100 | CAMK2D | 0.43746027 |
| 101 | PRKCI | 0.43566091 |
| 102 | BMPR2 | 0.43277355 |
| 103 | MARK2 | 0.40481632 |
| 104 | PRKCA | 0.40420882 |
| 105 | PRKCQ | 0.40374694 |
| 106 | FRK | 0.40230110 |
| 107 | SGK2 | 0.40139157 |
| 108 | ATM | 0.39779336 |
| 109 | STK24 | 0.39304868 |
| 110 | MAPK10 | 0.38778851 |
| 111 | DAPK1 | 0.38472283 |
| 112 | PLK3 | 0.37942635 |
| 113 | PRKAA1 | 0.36974172 |
| 114 | MAPK13 | 0.36721199 |
| 115 | FER | 0.36090156 |
| 116 | RPS6KB1 | 0.35209165 |
| 117 | DYRK1A | 0.35070593 |
| 118 | BRSK2 | 0.34771375 |
| 119 | ERBB2 | 0.33916131 |
| 120 | MAP3K2 | 0.33794289 |
| 121 | PAK3 | 0.33790744 |
| 122 | TNK2 | 0.33302108 |
| 123 | CDK19 | 0.32666711 |
| 124 | BRSK1 | 0.32491048 |
| 125 | PIK3CA | 0.32485596 |
| 126 | PLK4 | 0.32432574 |
| 127 | UHMK1 | 0.32310182 |
| 128 | IRAK1 | 0.32196959 |
| 129 | TGFBR1 | 0.32094031 |
| 130 | PRKG2 | 0.31334438 |
| 131 | KSR1 | 0.31023994 |
| 132 | SGK1 | 0.30317325 |
| 133 | CSNK1E | 0.29760155 |
| 134 | RIPK1 | 0.28414027 |
| 135 | GSK3B | 0.28370603 |
| 136 | CSNK1G2 | 0.28014369 |
| 137 | PRKDC | 0.27335159 |
| 138 | CDK18 | 0.26791408 |
| 139 | BRAF | 0.26619602 |
| 140 | CDK15 | 0.26206408 |
| 141 | CDK14 | 0.25361273 |
| 142 | LATS2 | 0.25058759 |
| 143 | CAMK2G | 0.24309525 |
| 144 | RPS6KA3 | 0.24270331 |
| 145 | SGK3 | 0.23860645 |
| 146 | PRKCZ | 0.23365239 |
| 147 | MARK3 | 0.23117037 |
| 148 | GRK5 | 0.22915924 |
| 149 | CAMK1 | 0.22080758 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Olfactory transduction_Homo sapiens_hsa04740 | 3.59926640 |
| 2 | Amphetamine addiction_Homo sapiens_hsa05031 | 2.83505982 |
| 3 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 2.63425344 |
| 4 | Long-term potentiation_Homo sapiens_hsa04720 | 2.53484928 |
| 5 | Nicotine addiction_Homo sapiens_hsa05033 | 2.38239274 |
| 6 | Circadian entrainment_Homo sapiens_hsa04713 | 2.32325989 |
| 7 | Phototransduction_Homo sapiens_hsa04744 | 2.26170635 |
| 8 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 2.18547813 |
| 9 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 2.17224967 |
| 10 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 2.15955857 |
| 11 | Insulin secretion_Homo sapiens_hsa04911 | 2.14105463 |
| 12 | Taste transduction_Homo sapiens_hsa04742 | 2.09010237 |
| 13 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.08901288 |
| 14 | Renin secretion_Homo sapiens_hsa04924 | 2.05154270 |
| 15 | Oocyte meiosis_Homo sapiens_hsa04114 | 2.03671880 |
| 16 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.99915333 |
| 17 | Morphine addiction_Homo sapiens_hsa05032 | 1.99613253 |
| 18 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 1.97774367 |
| 19 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 1.93682770 |
| 20 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.92925774 |
| 21 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.92124349 |
| 22 | Protein export_Homo sapiens_hsa03060 | 1.88162578 |
| 23 | Dopaminergic synapse_Homo sapiens_hsa04728 | 1.86781238 |
| 24 | Salivary secretion_Homo sapiens_hsa04970 | 1.81927699 |
| 25 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.79609700 |
| 26 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 1.79453030 |
| 27 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.76823860 |
| 28 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 1.73761310 |
| 29 | GABAergic synapse_Homo sapiens_hsa04727 | 1.71588250 |
| 30 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.68161518 |
| 31 | Gastric acid secretion_Homo sapiens_hsa04971 | 1.66209016 |
| 32 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.63224905 |
| 33 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 1.58071997 |
| 34 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 1.56441016 |
| 35 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.50426911 |
| 36 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 1.49283981 |
| 37 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.47239806 |
| 38 | Basal transcription factors_Homo sapiens_hsa03022 | 1.45830516 |
| 39 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.44875985 |
| 40 | Histidine metabolism_Homo sapiens_hsa00340 | 1.42049182 |
| 41 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.40582545 |
| 42 | Cocaine addiction_Homo sapiens_hsa05030 | 1.38150604 |
| 43 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 1.36070830 |
| 44 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 1.32213277 |
| 45 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 1.31877278 |
| 46 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 1.31653362 |
| 47 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 1.31014032 |
| 48 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.30902953 |
| 49 | Cholinergic synapse_Homo sapiens_hsa04725 | 1.29034611 |
| 50 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 1.28696222 |
| 51 | cAMP signaling pathway_Homo sapiens_hsa04024 | 1.28695181 |
| 52 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.28235811 |
| 53 | ABC transporters_Homo sapiens_hsa02010 | 1.28065669 |
| 54 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.26601097 |
| 55 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.25735167 |
| 56 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 1.25289965 |
| 57 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.23673282 |
| 58 | Parkinsons disease_Homo sapiens_hsa05012 | 1.23018606 |
| 59 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.22620327 |
| 60 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.22463294 |
| 61 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 1.19062057 |
| 62 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 1.15272921 |
| 63 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.13299373 |
| 64 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 1.12398691 |
| 65 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 1.12250550 |
| 66 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.12223724 |
| 67 | Peroxisome_Homo sapiens_hsa04146 | 1.11342955 |
| 68 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.10886848 |
| 69 | Huntingtons disease_Homo sapiens_hsa05016 | 1.09370435 |
| 70 | Alzheimers disease_Homo sapiens_hsa05010 | 1.06573504 |
| 71 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 1.04391435 |
| 72 | Retinol metabolism_Homo sapiens_hsa00830 | 1.03761946 |
| 73 | Long-term depression_Homo sapiens_hsa04730 | 1.03582135 |
| 74 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 1.01455411 |
| 75 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.01428555 |
| 76 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 1.00272445 |
| 77 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.98566665 |
| 78 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.94923649 |
| 79 | Gap junction_Homo sapiens_hsa04540 | 0.92920081 |
| 80 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.92294529 |
| 81 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.90541391 |
| 82 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.89047682 |
| 83 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.88746292 |
| 84 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.88624739 |
| 85 | Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750 | 0.88227737 |
| 86 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.88036795 |
| 87 | Melanogenesis_Homo sapiens_hsa04916 | 0.87239776 |
| 88 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.86354954 |
| 89 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.85982215 |
| 90 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.84531899 |
| 91 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.83938242 |
| 92 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.83534037 |
| 93 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.76642787 |
| 94 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.74528748 |
| 95 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.72499368 |
| 96 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.72488277 |
| 97 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.71922596 |
| 98 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.71832529 |
| 99 | Alcoholism_Homo sapiens_hsa05034 | 0.71808458 |
| 100 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.70281419 |
| 101 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.69196194 |
| 102 | Mineral absorption_Homo sapiens_hsa04978 | 0.69108996 |
| 103 | Axon guidance_Homo sapiens_hsa04360 | 0.68490355 |
| 104 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.64188387 |
| 105 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.63650649 |
| 106 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.61391502 |
| 107 | Glioma_Homo sapiens_hsa05214 | 0.60803289 |
| 108 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.58872502 |
| 109 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.58805541 |
| 110 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.58259851 |
| 111 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.57847187 |
| 112 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.55720074 |
| 113 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.53550204 |
| 114 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.52928481 |
| 115 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.51654945 |
| 116 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.51615351 |
| 117 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.50808084 |
| 118 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.50616871 |
| 119 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.49603389 |
| 120 | Tight junction_Homo sapiens_hsa04530 | 0.49089278 |
| 121 | Metabolic pathways_Homo sapiens_hsa01100 | 0.48748225 |
| 122 | Bile secretion_Homo sapiens_hsa04976 | 0.48486929 |
| 123 | Purine metabolism_Homo sapiens_hsa00230 | 0.48227602 |
| 124 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.46566963 |
| 125 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 0.45436155 |
| 126 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.44596446 |
| 127 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.43298007 |
| 128 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.43105344 |
| 129 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.43073751 |
| 130 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.41475670 |
| 131 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.41329849 |
| 132 | RNA transport_Homo sapiens_hsa03013 | 0.40194931 |
| 133 | Circadian rhythm_Homo sapiens_hsa04710 | 0.39988330 |
| 134 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.39239653 |
| 135 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.39216222 |
| 136 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.38205002 |
| 137 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.37079938 |
| 138 | Endocytosis_Homo sapiens_hsa04144 | 0.35916012 |
| 139 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.33301383 |
| 140 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.33092467 |
| 141 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.32747629 |
| 142 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.31238430 |
| 143 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.30386208 |
| 144 | Ras signaling pathway_Homo sapiens_hsa04014 | 0.29540135 |

