

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | axonemal dynein complex assembly (GO:0070286) | 9.54423754 |
| 2 | spermatid development (GO:0007286) | 9.54336362 |
| 3 | motile cilium assembly (GO:0044458) | 9.44338800 |
| 4 | cilium movement (GO:0003341) | 8.37291807 |
| 5 | cilium or flagellum-dependent cell motility (GO:0001539) | 8.29116966 |
| 6 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 7.69976623 |
| 7 | single fertilization (GO:0007338) | 7.38375124 |
| 8 | spermatid nucleus differentiation (GO:0007289) | 7.26661714 |
| 9 | sperm capacitation (GO:0048240) | 7.26039253 |
| 10 | regulation of cilium movement (GO:0003352) | 7.00607194 |
| 11 | synaptonemal complex assembly (GO:0007130) | 7.00233169 |
| 12 | male meiosis (GO:0007140) | 6.94787133 |
| 13 | synaptonemal complex organization (GO:0070193) | 6.92525094 |
| 14 | negative regulation of inclusion body assembly (GO:0090084) | 6.38985393 |
| 15 | piRNA metabolic process (GO:0034587) | 6.38895925 |
| 16 | spermatogenesis (GO:0007283) | 6.26290916 |
| 17 | male gamete generation (GO:0048232) | 6.23983877 |
| 18 | fertilization (GO:0009566) | 6.23685494 |
| 19 | sexual reproduction (GO:0019953) | 6.15602387 |
| 20 | microtubule depolymerization (GO:0007019) | 6.01619549 |
| 21 | single strand break repair (GO:0000012) | 5.99472466 |
| 22 | calcium ion-dependent exocytosis (GO:0017156) | 5.73809296 |
| 23 | gamete generation (GO:0007276) | 5.73515582 |
| 24 | organic cation transport (GO:0015695) | 5.73355314 |
| 25 | regulation of inclusion body assembly (GO:0090083) | 5.37238424 |
| 26 | germ cell development (GO:0007281) | 5.35820426 |
| 27 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 5.26320413 |
| 28 | cell recognition (GO:0008037) | 5.13536130 |
| 29 | glycerol ether metabolic process (GO:0006662) | 4.96120655 |
| 30 | protein K11-linked deubiquitination (GO:0035871) | 4.92844292 |
| 31 | ventricular system development (GO:0021591) | 4.82824458 |
| 32 | chromosome organization involved in meiosis (GO:0070192) | 4.65365237 |
| 33 | ether metabolic process (GO:0018904) | 4.57930768 |
| 34 | microtubule severing (GO:0051013) | 4.57808998 |
| 35 | multicellular organismal reproductive process (GO:0048609) | 4.49184789 |
| 36 | seminiferous tubule development (GO:0072520) | 4.40828335 |
| 37 | monoubiquitinated protein deubiquitination (GO:0035520) | 4.35010269 |
| 38 | DNA methylation involved in gamete generation (GO:0043046) | 4.24199714 |
| 39 | chromosome condensation (GO:0030261) | 4.22736321 |
| 40 | regulation of microtubule-based movement (GO:0060632) | 4.18116168 |
| 41 | sequestering of actin monomers (GO:0042989) | 4.11135077 |
| 42 | DNA packaging (GO:0006323) | 3.95540309 |
| 43 | meiotic nuclear division (GO:0007126) | 3.90747318 |
| 44 | chaperone-mediated protein complex assembly (GO:0051131) | 3.81439168 |
| 45 | male meiosis I (GO:0007141) | 3.80835057 |
| 46 | genitalia morphogenesis (GO:0035112) | 3.77681446 |
| 47 | left/right pattern formation (GO:0060972) | 3.74281220 |
| 48 | multicellular organismal development (GO:0007275) | 3.62260239 |
| 49 | GTP biosynthetic process (GO:0006183) | 3.27093816 |
| 50 | polyol catabolic process (GO:0046174) | 3.24999893 |
| 51 | microtubule polymerization or depolymerization (GO:0031109) | 3.20486873 |
| 52 | glycolytic process (GO:0006096) | 3.15223877 |
| 53 | chromatin silencing (GO:0006342) | 3.11875114 |
| 54 | nucleoside diphosphate phosphorylation (GO:0006165) | 3.06379272 |
| 55 | alditol metabolic process (GO:0019400) | 2.99407239 |
| 56 | meiosis I (GO:0007127) | 2.96926174 |
| 57 | nucleus organization (GO:0006997) | 2.93437665 |
| 58 | positive regulation of macrophage activation (GO:0043032) | 2.89606091 |
| 59 | UTP biosynthetic process (GO:0006228) | 2.88046664 |
| 60 | cilium organization (GO:0044782) | 2.86786233 |
| 61 | centriole assembly (GO:0098534) | 2.86379317 |
| 62 | macroautophagy (GO:0016236) | 2.84421869 |
| 63 | lactate metabolic process (GO:0006089) | 2.83745594 |
| 64 | meiotic cell cycle (GO:0051321) | 2.79152664 |
| 65 | protein refolding (GO:0042026) | 2.78614355 |
| 66 | protein polyglutamylation (GO:0018095) | 2.78394313 |
| 67 | amino-acid betaine transport (GO:0015838) | 2.77769843 |
| 68 | carnitine transport (GO:0015879) | 2.77769843 |
| 69 | cilium assembly (GO:0042384) | 2.77602109 |
| 70 | cellular component assembly involved in morphogenesis (GO:0010927) | 2.76397546 |
| 71 | glycerol metabolic process (GO:0006071) | 2.68891875 |
| 72 | microtubule-based movement (GO:0007018) | 2.67926596 |
| 73 | interferon-gamma secretion (GO:0072643) | 2.67432792 |
| 74 | carnitine transmembrane transport (GO:1902603) | 2.65829112 |
| 75 | protein localization to cilium (GO:0061512) | 2.64952364 |
| 76 | UTP metabolic process (GO:0046051) | 2.58981844 |
| 77 | cellular response to arsenic-containing substance (GO:0071243) | 2.57597419 |
| 78 | gene silencing by RNA (GO:0031047) | 2.56077789 |
| 79 | cell redox homeostasis (GO:0045454) | 2.55651412 |
| 80 | protein-DNA complex disassembly (GO:0032986) | 2.53481306 |
| 81 | nucleosome disassembly (GO:0006337) | 2.53481306 |
| 82 | gene silencing (GO:0016458) | 2.52689708 |
| 83 | mitotic sister chromatid cohesion (GO:0007064) | 2.51911267 |
| 84 | intraciliary transport (GO:0042073) | 2.47529164 |
| 85 | regulation of spindle checkpoint (GO:0090231) | 2.47120117 |
| 86 | cilium morphogenesis (GO:0060271) | 2.42002045 |
| 87 | synapsis (GO:0007129) | 2.40562126 |
| 88 | cell wall macromolecule catabolic process (GO:0016998) | 15.8299640 |
| 89 | cell wall macromolecule metabolic process (GO:0044036) | 15.8299640 |
| 90 | fusion of sperm to egg plasma membrane (GO:0007342) | 13.9413845 |
| 91 | sperm motility (GO:0030317) | 13.6748228 |
| 92 | acrosome assembly (GO:0001675) | 12.4092856 |
| 93 | sperm-egg recognition (GO:0035036) | 11.5021583 |
| 94 | acrosome reaction (GO:0007340) | 11.2783452 |
| 95 | multicellular organism reproduction (GO:0032504) | 11.2183035 |
| 96 | epithelial cilium movement (GO:0003351) | 10.6947443 |
| 97 | plasma membrane fusion (GO:0045026) | 10.6883021 |
| 98 | binding of sperm to zona pellucida (GO:0007339) | 10.6651195 |
| 99 | cell-cell recognition (GO:0009988) | 10.3467419 |
| 100 | reproduction (GO:0000003) | 10.0933525 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 9.29080392 |
| 2 | EZH2_22144423_ChIP-Seq_EOC_Human | 3.98507500 |
| 3 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 3.82095869 |
| 4 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 3.57217506 |
| 5 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 3.00757584 |
| 6 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.86881291 |
| 7 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.63823516 |
| 8 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 2.34421691 |
| 9 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.32858159 |
| 10 | VDR_22108803_ChIP-Seq_LS180_Human | 2.25180552 |
| 11 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 2.13700587 |
| 12 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.07142431 |
| 13 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 2.04833934 |
| 14 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.04421658 |
| 15 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 2.04249281 |
| 16 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 2.01576303 |
| 17 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.96237896 |
| 18 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.84049153 |
| 19 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.82427860 |
| 20 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.78427006 |
| 21 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.77766859 |
| 22 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.75997272 |
| 23 | KDM2B_26808549_Chip-Seq_REH_Human | 1.75422442 |
| 24 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.64650724 |
| 25 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.63203740 |
| 26 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.63177423 |
| 27 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.62722582 |
| 28 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.62433448 |
| 29 | GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.61959498 |
| 30 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.60780005 |
| 31 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.57817757 |
| 32 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.56844597 |
| 33 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.51547210 |
| 34 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.51342102 |
| 35 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.49498938 |
| 36 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.48925664 |
| 37 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.47587426 |
| 38 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.47054817 |
| 39 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 1.43213239 |
| 40 | P53_22387025_ChIP-Seq_ESCs_Mouse | 1.42261553 |
| 41 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.41705549 |
| 42 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.40272833 |
| 43 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.38680547 |
| 44 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.38680547 |
| 45 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.38521220 |
| 46 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.37488570 |
| 47 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.36032595 |
| 48 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.34084027 |
| 49 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.33538869 |
| 50 | P300_18555785_Chip-Seq_ESCs_Mouse | 1.33288826 |
| 51 | OCT4_18555785_Chip-Seq_ESCs_Mouse | 1.33250819 |
| 52 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 1.33020939 |
| 53 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.30255487 |
| 54 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.28740077 |
| 55 | GATA3_21867929_ChIP-Seq_TH1_Mouse | 1.24637203 |
| 56 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 1.22849160 |
| 57 | SOX9_26525672_Chip-Seq_HEART_Mouse | 1.19661334 |
| 58 | EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 1.19245128 |
| 59 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 1.19013914 |
| 60 | KLF4_18555785_Chip-Seq_ESCs_Mouse | 1.18393432 |
| 61 | LUZP1_20508642_ChIP-Seq_ESCs_Mouse | 1.18159077 |
| 62 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.17316656 |
| 63 | SOX2_18555785_Chip-Seq_ESCs_Mouse | 1.16635596 |
| 64 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.15749184 |
| 65 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 1.14512950 |
| 66 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.13849697 |
| 67 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.13849697 |
| 68 | ESRRB_18555785_Chip-Seq_ESCs_Mouse | 1.12281380 |
| 69 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.11962092 |
| 70 | E2F1_18555785_Chip-Seq_ESCs_Mouse | 1.10962510 |
| 71 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 1.09979676 |
| 72 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 1.09735294 |
| 73 | PU1_27457419_Chip-Seq_LIVER_Mouse | 1.07811031 |
| 74 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 1.07576975 |
| 75 | CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.06754591 |
| 76 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.06262018 |
| 77 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.05975150 |
| 78 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.05040592 |
| 79 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.04371842 |
| 80 | RUNX1_27457419_Chip-Seq_LIVER_Mouse | 1.03850219 |
| 81 | NMYC_18555785_Chip-Seq_ESCs_Mouse | 1.03331524 |
| 82 | CTCF_18555785_Chip-Seq_ESCs_Mouse | 1.02976149 |
| 83 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.02322642 |
| 84 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 1.01958589 |
| 85 | ESET_19884257_ChIP-Seq_ESCs_Mouse | 1.00078773 |
| 86 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.99797117 |
| 87 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 0.98911843 |
| 88 | SMAD1_18555785_Chip-Seq_ESCs_Mouse | 0.98010850 |
| 89 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 0.96270211 |
| 90 | NFYB_21822215_ChIP-Seq_K562_Human | 0.95848064 |
| 91 | FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 0.93988784 |
| 92 | ZFX_18555785_Chip-Seq_ESCs_Mouse | 0.93503230 |
| 93 | TBL1_22424771_ChIP-Seq_293T_Human | 0.92375932 |
| 94 | GATA1_19941827_ChIP-Seq_MEL86_Mouse | 0.91668097 |
| 95 | PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 0.91402861 |
| 96 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 0.90541994 |
| 97 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 0.89187525 |
| 98 | FUS_26573619_Chip-Seq_HEK293_Human | 0.88195537 |
| 99 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 0.88180814 |
| 100 | GF1B_26923725_Chip-Seq_HPCs_Mouse | 0.87435709 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 6.12424081 |
| 2 | MP0001929_abnormal_gametogenesis | 5.58244163 |
| 3 | MP0008877_abnormal_DNA_methylation | 4.36565434 |
| 4 | MP0002161_abnormal_fertility/fecundity | 3.31226037 |
| 5 | MP0002210_abnormal_sex_determination | 3.26838618 |
| 6 | MP0001145_abnormal_male_reproductive | 2.82652947 |
| 7 | MP0000653_abnormal_sex_gland | 2.43849082 |
| 8 | MP0005670_abnormal_white_adipose | 2.26486481 |
| 9 | MP0005410_abnormal_fertilization | 16.1823626 |
| 10 | MP0002160_abnormal_reproductive_system | 1.60027638 |
| 11 | MP0004233_abnormal_muscle_weight | 1.56047703 |
| 12 | MP0002653_abnormal_ependyma_morphology | 1.41766686 |
| 13 | MP0001765_abnormal_ion_homeostasis | 1.27516864 |
| 14 | MP0002282_abnormal_trachea_morphology | 1.24517245 |
| 15 | MP0005623_abnormal_meninges_morphology | 1.22565068 |
| 16 | MP0009046_muscle_twitch | 1.17224057 |
| 17 | MP0005647_abnormal_sex_gland | 1.12856440 |
| 18 | MP0008058_abnormal_DNA_repair | 1.03812002 |
| 19 | MP0003646_muscle_fatigue | 1.01177637 |
| 20 | MP0002736_abnormal_nociception_after | 0.91056367 |
| 21 | MP0004270_analgesia | 0.90425098 |
| 22 | MP0003329_amyloid_beta_deposits | 0.89485789 |
| 23 | MP0005389_reproductive_system_phenotype | 0.85179347 |
| 24 | MP0003787_abnormal_imprinting | 0.83464265 |
| 25 | MP0002132_abnormal_respiratory_system | 0.82367560 |
| 26 | MP0006035_abnormal_mitochondrial_morpho | 0.80187451 |
| 27 | MP0008995_early_reproductive_senescence | 0.78706660 |
| 28 | MP0006036_abnormal_mitochondrial_physio | 0.78604518 |
| 29 | MP0002234_abnormal_pharynx_morphology | 0.75335681 |
| 30 | MP0004036_abnormal_muscle_relaxation | 0.74107541 |
| 31 | MP0005551_abnormal_eye_electrophysiolog | 0.72227812 |
| 32 | MP0005636_abnormal_mineral_homeostasis | 0.68061923 |
| 33 | MP0003011_delayed_dark_adaptation | 0.67970024 |
| 34 | MP0001968_abnormal_touch/_nociception | 0.67012412 |
| 35 | MP0002971_abnormal_brown_adipose | 0.66371494 |
| 36 | MP0001984_abnormal_olfaction | 0.65924926 |
| 37 | MP0003631_nervous_system_phenotype | 0.63194774 |
| 38 | MP0004019_abnormal_vitamin_homeostasis | 0.62531561 |
| 39 | MP0003633_abnormal_nervous_system | 0.60983298 |
| 40 | MP0001324_abnormal_eye_pigmentation | 0.60251877 |
| 41 | MP0003632_abnormal_nervous_system | 0.57925594 |
| 42 | MP0004859_abnormal_synaptic_plasticity | 0.53399474 |
| 43 | MP0005253_abnormal_eye_physiology | 0.51735571 |
| 44 | MP0003635_abnormal_synaptic_transmissio | 0.49230867 |
| 45 | MP0005248_abnormal_Harderian_gland | 0.48269509 |
| 46 | MP0000604_amyloidosis | 0.46493069 |
| 47 | MP0003699_abnormal_female_reproductive | 0.43251699 |
| 48 | MP0000534_abnormal_ureter_morphology | 0.42293544 |
| 49 | MP0004043_abnormal_pH_regulation | 0.42244039 |
| 50 | MP0002064_seizures | 0.41667844 |
| 51 | MP0004811_abnormal_neuron_physiology | 0.40655334 |
| 52 | MP0003115_abnormal_respiratory_system | 0.39467503 |
| 53 | MP0005646_abnormal_pituitary_gland | 0.39152959 |
| 54 | MP0009745_abnormal_behavioral_response | 0.38977165 |
| 55 | MP0002139_abnormal_hepatobiliary_system | 0.38575923 |
| 56 | MP0004130_abnormal_muscle_cell | 0.38211118 |
| 57 | MP0004133_heterotaxia | 0.37900378 |
| 58 | MP0004084_abnormal_cardiac_muscle | 0.37728688 |
| 59 | MP0008569_lethality_at_weaning | 0.37545197 |
| 60 | MP0000955_abnormal_spinal_cord | 0.37528322 |
| 61 | MP0004145_abnormal_muscle_electrophysio | 0.37221791 |
| 62 | MP0005535_abnormal_body_temperature | 0.37140755 |
| 63 | MP0002063_abnormal_learning/memory/cond | 0.36946239 |
| 64 | MP0000920_abnormal_myelination | 0.35161657 |
| 65 | MP0002102_abnormal_ear_morphology | 0.34955388 |
| 66 | MP0002272_abnormal_nervous_system | 0.34885798 |
| 67 | MP0001764_abnormal_homeostasis | 0.34773724 |
| 68 | MP0002269_muscular_atrophy | 0.34771681 |
| 69 | MP0006072_abnormal_retinal_apoptosis | 0.33798583 |
| 70 | MP0001440_abnormal_grooming_behavior | 0.33393446 |
| 71 | MP0010094_abnormal_chromosome_stability | 0.32970625 |
| 72 | MP0002572_abnormal_emotion/affect_behav | 0.32566672 |
| 73 | MP0006082_CNS_inflammation | 0.32262830 |
| 74 | MP0002152_abnormal_brain_morphology | 0.31599463 |
| 75 | MP0002693_abnormal_pancreas_physiology | 0.30237970 |
| 76 | MP0000358_abnormal_cell_content/ | 0.29586924 |
| 77 | MP0003879_abnormal_hair_cell | 0.29563124 |
| 78 | MP0002909_abnormal_adrenal_gland | 0.28362201 |
| 79 | MP0005391_vision/eye_phenotype | 0.27241013 |
| 80 | MP0005666_abnormal_adipose_tissue | 0.26900613 |
| 81 | MP0002928_abnormal_bile_duct | 0.26887103 |
| 82 | MP0002229_neurodegeneration | 0.26653902 |
| 83 | MP0005195_abnormal_posterior_eye | 0.26608678 |
| 84 | MP0001502_abnormal_circadian_rhythm | 0.26388366 |
| 85 | MP0000751_myopathy | 0.25941786 |
| 86 | MP0005423_abnormal_somatic_nervous | 0.24262125 |
| 87 | MP0009115_abnormal_fat_cell | 0.24220607 |
| 88 | MP0002734_abnormal_mechanical_nocicepti | 0.23921970 |
| 89 | MP0003950_abnormal_plasma_membrane | 0.23659670 |
| 90 | MP0000569_abnormal_digit_pigmentation | 0.23582809 |
| 91 | MP0002067_abnormal_sensory_capabilities | 0.23525926 |
| 92 | MP0008057_abnormal_DNA_replication | 0.23410943 |
| 93 | MP0002169_no_abnormal_phenotype | 0.23254171 |
| 94 | MP0002873_normal_phenotype | 0.23229930 |
| 95 | MP0001486_abnormal_startle_reflex | 0.22029920 |
| 96 | MP0001293_anophthalmia | 0.21314070 |
| 97 | MP0002277_abnormal_respiratory_mucosa | 0.21284174 |
| 98 | MP0003634_abnormal_glial_cell | 0.20706841 |
| 99 | MP0010030_abnormal_orbit_morphology | 0.20430673 |
| 100 | MP0003045_fibrosis | 0.20269103 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal respiratory epithelium morphology (HP:0012253) | 9.44882953 |
| 2 | Abnormal respiratory motile cilium morphology (HP:0005938) | 9.44882953 |
| 3 | Abnormal respiratory motile cilium physiology (HP:0012261) | 9.38359226 |
| 4 | Abnormal ciliary motility (HP:0012262) | 7.76078954 |
| 5 | Chronic bronchitis (HP:0004469) | 7.63043092 |
| 6 | Rhinitis (HP:0012384) | 7.29739362 |
| 7 | Infertility (HP:0000789) | 6.27680370 |
| 8 | Nasal polyposis (HP:0100582) | 6.06340855 |
| 9 | Abnormality of the nasal mucosa (HP:0000433) | 4.96501167 |
| 10 | Bronchitis (HP:0012387) | 4.26417432 |
| 11 | Bronchiectasis (HP:0002110) | 4.15992497 |
| 12 | Male infertility (HP:0003251) | 3.86410059 |
| 13 | Recurrent sinusitis (HP:0011108) | 3.74795996 |
| 14 | Nephronophthisis (HP:0000090) | 3.67176259 |
| 15 | Recurrent otitis media (HP:0000403) | 3.12993701 |
| 16 | Tubulointerstitial nephritis (HP:0001970) | 2.95846485 |
| 17 | Progressive inability to walk (HP:0002505) | 2.93409399 |
| 18 | Abnormal spermatogenesis (HP:0008669) | 2.88056515 |
| 19 | Abnormality of the renal medulla (HP:0100957) | 2.80106261 |
| 20 | Facial diplegia (HP:0001349) | 2.77263700 |
| 21 | Medial flaring of the eyebrow (HP:0010747) | 2.67680398 |
| 22 | Molar tooth sign on MRI (HP:0002419) | 2.51070315 |
| 23 | Abnormality of midbrain morphology (HP:0002418) | 2.51070315 |
| 24 | Tubulointerstitial abnormality (HP:0001969) | 2.17064589 |
| 25 | Tubular atrophy (HP:0000092) | 2.12206410 |
| 26 | Abnormality of permanent molar morphology (HP:0011071) | 2.05293746 |
| 27 | Abnormality of the dental root (HP:0006486) | 2.05293746 |
| 28 | Taurodontia (HP:0000679) | 2.05293746 |
| 29 | Recurrent bronchitis (HP:0002837) | 2.02000326 |
| 30 | Gonadotropin excess (HP:0000837) | 2.00044558 |
| 31 | Absent/shortened dynein arms (HP:0200106) | 13.9459621 |
| 32 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 13.9459621 |
| 33 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 12.9987411 |
| 34 | Azoospermia (HP:0000027) | 1.90781946 |
| 35 | Abnormality of molar morphology (HP:0011070) | 1.90424683 |
| 36 | Abnormality of molar (HP:0011077) | 1.90424683 |
| 37 | Abnormality of the dental pulp (HP:0006479) | 1.88987976 |
| 38 | Cholecystitis (HP:0001082) | 1.87357350 |
| 39 | Abnormal gallbladder physiology (HP:0012438) | 1.87357350 |
| 40 | Asymmetric septal hypertrophy (HP:0001670) | 1.85727267 |
| 41 | Dyschromatopsia (HP:0007641) | 1.83380597 |
| 42 | Delayed gross motor development (HP:0002194) | 1.82601593 |
| 43 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 1.82490057 |
| 44 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 1.82490057 |
| 45 | Stage 5 chronic kidney disease (HP:0003774) | 1.74874746 |
| 46 | Absent frontal sinuses (HP:0002688) | 1.74772962 |
| 47 | Inability to walk (HP:0002540) | 1.73856975 |
| 48 | Weak cry (HP:0001612) | 1.67765995 |
| 49 | Gait imbalance (HP:0002141) | 1.61311023 |
| 50 | Oculomotor apraxia (HP:0000657) | 1.59070042 |
| 51 | Bundle branch block (HP:0011710) | 1.58753220 |
| 52 | Decreased central vision (HP:0007663) | 1.58487845 |
| 53 | Congenital primary aphakia (HP:0007707) | 1.57767152 |
| 54 | Postaxial foot polydactyly (HP:0001830) | 1.57162913 |
| 55 | Abnormality of dentin (HP:0010299) | 1.56481761 |
| 56 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.54002934 |
| 57 | Abnormality of the renal cortex (HP:0011035) | 1.53733577 |
| 58 | Abnormality of renal excretion (HP:0011036) | 1.50727027 |
| 59 | Double outlet right ventricle (HP:0001719) | 1.48960861 |
| 60 | Congenital malformation of the right heart (HP:0011723) | 1.48960861 |
| 61 | Tubulointerstitial fibrosis (HP:0005576) | 1.48901977 |
| 62 | Congenital hepatic fibrosis (HP:0002612) | 1.47653463 |
| 63 | Vascular calcification (HP:0004934) | 1.47415480 |
| 64 | Constricted visual fields (HP:0001133) | 1.45058827 |
| 65 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 1.43157737 |
| 66 | Abnormality of renal resorption (HP:0011038) | 1.42597616 |
| 67 | Nephrogenic diabetes insipidus (HP:0009806) | 1.41927552 |
| 68 | Optic nerve hypoplasia (HP:0000609) | 1.40934208 |
| 69 | Choroideremia (HP:0001139) | 1.40894606 |
| 70 | Chronic sinusitis (HP:0011109) | 1.40569439 |
| 71 | Impulsivity (HP:0100710) | 1.38856780 |
| 72 | Abnormality of saccadic eye movements (HP:0000570) | 1.37376862 |
| 73 | Retrobulbar optic neuritis (HP:0100654) | 1.35815204 |
| 74 | Optic neuritis (HP:0100653) | 1.35815204 |
| 75 | Abnormality of ocular smooth pursuit (HP:0000617) | 1.35594618 |
| 76 | Postaxial hand polydactyly (HP:0001162) | 1.34427294 |
| 77 | J-shaped sella turcica (HP:0002680) | 1.33552661 |
| 78 | Impaired smooth pursuit (HP:0007772) | 1.32802281 |
| 79 | Sensory axonal neuropathy (HP:0003390) | 1.32273665 |
| 80 | Cardiovascular calcification (HP:0011915) | 1.31856079 |
| 81 | Heterotopia (HP:0002282) | 1.31258205 |
| 82 | Ragged-red muscle fibers (HP:0003200) | 1.30956073 |
| 83 | Fibular hypoplasia (HP:0003038) | 1.29319187 |
| 84 | Spastic tetraparesis (HP:0001285) | 1.28965286 |
| 85 | Polydipsia (HP:0001959) | 1.27846166 |
| 86 | Abnormal drinking behavior (HP:0030082) | 1.27846166 |
| 87 | Aplasia/Hypoplasia of the frontal sinuses (HP:0009119) | 1.26114168 |
| 88 | Hemorrhage of the eye (HP:0011885) | 1.22980794 |
| 89 | Gowers sign (HP:0003391) | 1.22711020 |
| 90 | Neurofibrillary tangles (HP:0002185) | 1.22436775 |
| 91 | Short ribs (HP:0000773) | 1.20868164 |
| 92 | Abnormal biliary tract physiology (HP:0012439) | 1.20363151 |
| 93 | Bile duct proliferation (HP:0001408) | 1.20363151 |
| 94 | Truncal obesity (HP:0001956) | 1.19988118 |
| 95 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 1.19420172 |
| 96 | Vaginal atresia (HP:0000148) | 1.18959049 |
| 97 | Cystic liver disease (HP:0006706) | 1.17946717 |
| 98 | Pancreatic fibrosis (HP:0100732) | 1.17118568 |
| 99 | Chronic hepatic failure (HP:0100626) | 1.16235222 |
| 100 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.16170420 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK3 | 9.99715809 |
| 2 | PDK4 | 9.99715809 |
| 3 | PDK2 | 6.50246326 |
| 4 | TESK1 | 3.70499732 |
| 5 | ICK | 2.83054316 |
| 6 | PRKD3 | 2.71044105 |
| 7 | PTK2B | 1.74485014 |
| 8 | STK39 | 1.56526941 |
| 9 | WNK4 | 1.51310211 |
| 10 | PDK1 | 1.28548712 |
| 11 | PNCK | 1.23411147 |
| 12 | DYRK1B | 1.17819693 |
| 13 | STK38 | 1.17348262 |
| 14 | RIPK4 | 0.99850807 |
| 15 | NEK2 | 0.99194267 |
| 16 | IRAK1 | 0.88828238 |
| 17 | LMTK2 | 0.72608301 |
| 18 | WNK1 | 0.70651816 |
| 19 | PDPK1 | 0.64611822 |
| 20 | CCNB1 | 0.53475820 |
| 21 | MAP2K6 | 0.50212385 |
| 22 | DYRK3 | 0.49177790 |
| 23 | TYRO3 | 0.44520163 |
| 24 | STK3 | 0.42719658 |
| 25 | PINK1 | 0.42196298 |
| 26 | PASK | 0.40766095 |
| 27 | IRAK2 | 0.40695498 |
| 28 | CAMKK1 | 0.39880198 |
| 29 | BRSK2 | 0.39144305 |
| 30 | TTK | 0.32129015 |
| 31 | CHEK2 | 0.31664270 |
| 32 | MUSK | 0.30517267 |
| 33 | PRKCG | 0.28950568 |
| 34 | MAPK15 | 0.28774718 |
| 35 | NTRK2 | 0.26794636 |
| 36 | MAP3K4 | 0.24548011 |
| 37 | CHEK1 | 0.24004427 |
| 38 | PKN1 | 0.23243137 |
| 39 | CDK6 | 0.21166548 |
| 40 | PRKCQ | 0.20013566 |
| 41 | MAP2K7 | 0.19326054 |
| 42 | EEF2K | 0.18423275 |
| 43 | MARK3 | 0.18309340 |
| 44 | PAK1 | 0.17877953 |
| 45 | PLK4 | 0.16508636 |
| 46 | TESK2 | 0.16440133 |
| 47 | RPS6KB1 | 0.16183890 |
| 48 | CAMK1G | 0.16101912 |
| 49 | CDK19 | 0.15848809 |
| 50 | OXSR1 | 0.15091341 |
| 51 | ATM | 0.14545277 |
| 52 | CAMKK2 | 0.14347707 |
| 53 | STK38L | 0.14318814 |
| 54 | PRKG1 | 0.13637341 |
| 55 | CAMK2A | 0.13621595 |
| 56 | MARK2 | 0.12024467 |
| 57 | NEK6 | 0.11902932 |
| 58 | PRKG2 | 0.10925892 |
| 59 | NTRK3 | 0.10813780 |
| 60 | PAK2 | 0.10199465 |
| 61 | MAPKAPK5 | 0.10179160 |
| 62 | BRSK1 | 0.09974138 |
| 63 | CDK15 | 0.09757192 |
| 64 | DYRK1A | 0.09207220 |
| 65 | BRAF | 0.08621046 |
| 66 | PRKACG | 0.08564551 |
| 67 | CDK18 | 0.08105169 |
| 68 | PRKAA1 | 0.08017231 |
| 69 | CDK5 | 0.07822682 |
| 70 | EPHA4 | 0.07793342 |
| 71 | UHMK1 | 0.07022911 |
| 72 | ATR | 0.06081851 |
| 73 | PRKCZ | 0.05833342 |
| 74 | CDK11A | 0.05691231 |
| 75 | CDK14 | 0.05595553 |
| 76 | MAPK8 | 0.05377507 |
| 77 | MINK1 | 0.05322083 |
| 78 | YES1 | 0.04694419 |
| 79 | PLK2 | 0.04568934 |
| 80 | RPS6KA3 | 0.04131596 |
| 81 | BMPR1B | 0.04112154 |
| 82 | MAP3K10 | 0.04098579 |
| 83 | FGFR3 | 0.03978942 |
| 84 | MAPK10 | 0.03760998 |
| 85 | GSK3B | 0.03715020 |
| 86 | MTOR | 0.03133388 |
| 87 | STK11 | 0.02699399 |
| 88 | EGFR | 0.02139226 |
| 89 | CAMK2B | 0.02061474 |
| 90 | GSK3A | 0.01885454 |
| 91 | PRKACA | 0.01654195 |
| 92 | PRKCB | 0.01561060 |
| 93 | CSNK1E | 0.01496214 |
| 94 | PRKCA | 0.01468004 |
| 95 | CDC7 | 0.01403516 |
| 96 | MAP3K5 | 0.01342264 |
| 97 | NTRK1 | 0.01290479 |
| 98 | CSNK1D | 0.01079656 |
| 99 | PRKACB | 0.00980942 |
| 100 | CSNK2A2 | 0.00975260 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 4.28233402 |
| 2 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 4.21913232 |
| 3 | Pyruvate metabolism_Homo sapiens_hsa00620 | 3.82221182 |
| 4 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 3.30767655 |
| 5 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.90748868 |
| 6 | Selenocompound metabolism_Homo sapiens_hsa00450 | 2.88163403 |
| 7 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 2.79868612 |
| 8 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 2.65490281 |
| 9 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 2.56532316 |
| 10 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 2.54781214 |
| 11 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 2.53076786 |
| 12 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 2.52112246 |
| 13 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 2.16391960 |
| 14 | Basal transcription factors_Homo sapiens_hsa03022 | 1.90106607 |
| 15 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.86555076 |
| 16 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.82521904 |
| 17 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.63815580 |
| 18 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.61532998 |
| 19 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.61053272 |
| 20 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.57250463 |
| 21 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.53698021 |
| 22 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.47915868 |
| 23 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.46930583 |
| 24 | Renin secretion_Homo sapiens_hsa04924 | 1.45788667 |
| 25 | Mineral absorption_Homo sapiens_hsa04978 | 1.42996366 |
| 26 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.42870217 |
| 27 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.37948437 |
| 28 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.30459785 |
| 29 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.29849232 |
| 30 | Carbon metabolism_Homo sapiens_hsa01200 | 1.28117638 |
| 31 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.27238791 |
| 32 | Long-term potentiation_Homo sapiens_hsa04720 | 1.22455315 |
| 33 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.21688637 |
| 34 | Insulin secretion_Homo sapiens_hsa04911 | 1.10449512 |
| 35 | Taste transduction_Homo sapiens_hsa04742 | 1.07403546 |
| 36 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.02426113 |
| 37 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.98989943 |
| 38 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.97832836 |
| 39 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.97554778 |
| 40 | Purine metabolism_Homo sapiens_hsa00230 | 0.97177636 |
| 41 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.93747482 |
| 42 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.93034604 |
| 43 | Salivary secretion_Homo sapiens_hsa04970 | 0.92298782 |
| 44 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.92092317 |
| 45 | Circadian entrainment_Homo sapiens_hsa04713 | 0.89610918 |
| 46 | Huntingtons disease_Homo sapiens_hsa05016 | 0.89537231 |
| 47 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.89049691 |
| 48 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.88743565 |
| 49 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.88685931 |
| 50 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.85670169 |
| 51 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.84224443 |
| 52 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.77083431 |
| 53 | Bile secretion_Homo sapiens_hsa04976 | 0.76518162 |
| 54 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.75724509 |
| 55 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.74405558 |
| 56 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.74223217 |
| 57 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.74015322 |
| 58 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.71323448 |
| 59 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.71082117 |
| 60 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.70615609 |
| 61 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.62397387 |
| 62 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.62274747 |
| 63 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.61285267 |
| 64 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.61277459 |
| 65 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.60275397 |
| 66 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.60123071 |
| 67 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.59266748 |
| 68 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.59020602 |
| 69 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.58547277 |
| 70 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.57988869 |
| 71 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.57861163 |
| 72 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.55341755 |
| 73 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.54534608 |
| 74 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.50913866 |
| 75 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.49900038 |
| 76 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.49121041 |
| 77 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.47169956 |
| 78 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.46355256 |
| 79 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.45134503 |
| 80 | ABC transporters_Homo sapiens_hsa02010 | 0.44976087 |
| 81 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.42715765 |
| 82 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.42567845 |
| 83 | Metabolic pathways_Homo sapiens_hsa01100 | 0.37496949 |
| 84 | RNA transport_Homo sapiens_hsa03013 | 0.36567168 |
| 85 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.34560517 |
| 86 | Endocytosis_Homo sapiens_hsa04144 | 0.32608114 |
| 87 | Nicotine addiction_Homo sapiens_hsa05033 | 0.32156906 |
| 88 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.31804016 |
| 89 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.31040410 |
| 90 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.29846362 |
| 91 | Alcoholism_Homo sapiens_hsa05034 | 0.29505669 |
| 92 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.28840877 |
| 93 | Olfactory transduction_Homo sapiens_hsa04740 | 0.28095559 |
| 94 | Legionellosis_Homo sapiens_hsa05134 | 0.27506384 |
| 95 | Morphine addiction_Homo sapiens_hsa05032 | 0.25953358 |
| 96 | Cocaine addiction_Homo sapiens_hsa05030 | 0.25693441 |
| 97 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.23920340 |
| 98 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.21092896 |
| 99 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.19782863 |
| 100 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.18898910 |

