

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | reproduction (GO:0000003) | 9.66771332 |
| 2 | motile cilium assembly (GO:0044458) | 9.56587124 |
| 3 | spermatid development (GO:0007286) | 9.44303047 |
| 4 | piRNA metabolic process (GO:0034587) | 9.11632939 |
| 5 | cilium movement (GO:0003341) | 8.41971220 |
| 6 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 8.19119747 |
| 7 | male meiosis (GO:0007140) | 8.15452460 |
| 8 | synaptonemal complex organization (GO:0070193) | 7.82620064 |
| 9 | regulation of cilium movement (GO:0003352) | 7.78264879 |
| 10 | synaptonemal complex assembly (GO:0007130) | 7.61346521 |
| 11 | single fertilization (GO:0007338) | 7.55027709 |
| 12 | sperm capacitation (GO:0048240) | 6.81861314 |
| 13 | negative regulation of inclusion body assembly (GO:0090084) | 6.56573250 |
| 14 | fertilization (GO:0009566) | 6.41474734 |
| 15 | spermatogenesis (GO:0007283) | 6.33901978 |
| 16 | male gamete generation (GO:0048232) | 6.31790090 |
| 17 | microtubule depolymerization (GO:0007019) | 5.92824541 |
| 18 | DNA methylation involved in gamete generation (GO:0043046) | 5.89873830 |
| 19 | gamete generation (GO:0007276) | 5.80766483 |
| 20 | organic cation transport (GO:0015695) | 5.68033625 |
| 21 | male meiosis I (GO:0007141) | 5.39969256 |
| 22 | regulation of inclusion body assembly (GO:0090083) | 5.38175899 |
| 23 | germ cell development (GO:0007281) | 5.35606926 |
| 24 | chromosome organization involved in meiosis (GO:0070192) | 5.33711495 |
| 25 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 5.30846450 |
| 26 | calcium ion-dependent exocytosis (GO:0017156) | 5.22271851 |
| 27 | ventricular system development (GO:0021591) | 5.22163158 |
| 28 | spermatid nucleus differentiation (GO:0007289) | 4.99316471 |
| 29 | cell recognition (GO:0008037) | 4.97016228 |
| 30 | meiotic nuclear division (GO:0007126) | 4.77527514 |
| 31 | seminiferous tubule development (GO:0072520) | 4.75920508 |
| 32 | regulation of microtubule-based movement (GO:0060632) | 4.55902863 |
| 33 | multicellular organismal reproductive process (GO:0048609) | 4.55378443 |
| 34 | microtubule severing (GO:0051013) | 4.52688690 |
| 35 | meiosis I (GO:0007127) | 4.34372881 |
| 36 | glycerol ether metabolic process (GO:0006662) | 4.32413511 |
| 37 | left/right pattern formation (GO:0060972) | 4.14540290 |
| 38 | chromosome condensation (GO:0030261) | 4.13852049 |
| 39 | meiotic cell cycle (GO:0051321) | 4.11186405 |
| 40 | ether metabolic process (GO:0018904) | 3.99406345 |
| 41 | DNA packaging (GO:0006323) | 3.94564468 |
| 42 | chaperone-mediated protein complex assembly (GO:0051131) | 3.90980433 |
| 43 | protein localization to cilium (GO:0061512) | 3.84714741 |
| 44 | monoubiquitinated protein deubiquitination (GO:0035520) | 3.81005027 |
| 45 | genitalia morphogenesis (GO:0035112) | 3.79415514 |
| 46 | single strand break repair (GO:0000012) | 3.76953312 |
| 47 | multicellular organismal development (GO:0007275) | 3.68112537 |
| 48 | sexual reproduction (GO:0019953) | 3.65868362 |
| 49 | protein K11-linked deubiquitination (GO:0035871) | 3.44500310 |
| 50 | centriole assembly (GO:0098534) | 3.35589181 |
| 51 | protein polyglutamylation (GO:0018095) | 3.32746938 |
| 52 | gene silencing by RNA (GO:0031047) | 3.27000762 |
| 53 | intraciliary transport (GO:0042073) | 3.24406649 |
| 54 | synapsis (GO:0007129) | 3.19806432 |
| 55 | carnitine transport (GO:0015879) | 3.14059599 |
| 56 | amino-acid betaine transport (GO:0015838) | 3.14059599 |
| 57 | alditol metabolic process (GO:0019400) | 3.13899554 |
| 58 | meiotic cell cycle process (GO:1903046) | 3.12851481 |
| 59 | lactate metabolic process (GO:0006089) | 3.10427048 |
| 60 | regulation of spindle checkpoint (GO:0090231) | 3.09589436 |
| 61 | sequestering of actin monomers (GO:0042989) | 3.08301525 |
| 62 | microtubule polymerization or depolymerization (GO:0031109) | 3.08061410 |
| 63 | axoneme assembly (GO:0035082) | 3.07910626 |
| 64 | nucleoside diphosphate phosphorylation (GO:0006165) | 3.07025672 |
| 65 | microtubule-based movement (GO:0007018) | 3.06858042 |
| 66 | carnitine transmembrane transport (GO:1902603) | 3.05955096 |
| 67 | polyol catabolic process (GO:0046174) | 3.03614703 |
| 68 | protein refolding (GO:0042026) | 3.01854118 |
| 69 | cilium organization (GO:0044782) | 2.99415226 |
| 70 | glycolytic process (GO:0006096) | 2.90482304 |
| 71 | negative regulation of organelle assembly (GO:1902116) | 2.90166163 |
| 72 | nucleus organization (GO:0006997) | 2.88937424 |
| 73 | cilium assembly (GO:0042384) | 2.86540836 |
| 74 | GTP biosynthetic process (GO:0006183) | 2.84951482 |
| 75 | mitotic sister chromatid cohesion (GO:0007064) | 2.84235011 |
| 76 | cilium morphogenesis (GO:0060271) | 2.82628066 |
| 77 | cellular component assembly involved in morphogenesis (GO:0010927) | 2.82115584 |
| 78 | centriole replication (GO:0007099) | 2.79073947 |
| 79 | glycerol metabolic process (GO:0006071) | 2.75781133 |
| 80 | regulation of centriole replication (GO:0046599) | 2.71805952 |
| 81 | interferon-gamma secretion (GO:0072643) | 2.63990869 |
| 82 | regulation of meiosis I (GO:0060631) | 2.63133670 |
| 83 | gene silencing (GO:0016458) | 2.62035547 |
| 84 | UTP biosynthetic process (GO:0006228) | 2.52794625 |
| 85 | nuclear pore complex assembly (GO:0051292) | 2.43804168 |
| 86 | peptidyl-glutamic acid modification (GO:0018200) | 2.39822936 |
| 87 | fusion of sperm to egg plasma membrane (GO:0007342) | 13.7640374 |
| 88 | sperm motility (GO:0030317) | 13.0047404 |
| 89 | cilium or flagellum-dependent cell motility (GO:0001539) | 12.4899646 |
| 90 | cell wall macromolecule catabolic process (GO:0016998) | 12.4116404 |
| 91 | cell wall macromolecule metabolic process (GO:0044036) | 12.4116404 |
| 92 | acrosome assembly (GO:0001675) | 11.6562229 |
| 93 | sperm-egg recognition (GO:0035036) | 11.4933250 |
| 94 | multicellular organism reproduction (GO:0032504) | 11.3845789 |
| 95 | acrosome reaction (GO:0007340) | 11.2521050 |
| 96 | plasma membrane fusion (GO:0045026) | 10.4871766 |
| 97 | binding of sperm to zona pellucida (GO:0007339) | 10.4102817 |
| 98 | axonemal dynein complex assembly (GO:0070286) | 10.3572974 |
| 99 | cell-cell recognition (GO:0009988) | 10.2870162 |
| 100 | epithelial cilium movement (GO:0003351) | 10.0962841 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 4.81674260 |
| 2 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 4.19701372 |
| 3 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 3.50079235 |
| 4 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.76050471 |
| 5 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.64347660 |
| 6 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.49202322 |
| 7 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 2.28011704 |
| 8 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.18196269 |
| 9 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 2.11766898 |
| 10 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.11752306 |
| 11 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 2.09825591 |
| 12 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.09028865 |
| 13 | VDR_22108803_ChIP-Seq_LS180_Human | 2.08269600 |
| 14 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 2.08122387 |
| 15 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 2.05452342 |
| 16 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 10.3329335 |
| 17 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.83133581 |
| 18 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 1.76570503 |
| 19 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.68774989 |
| 20 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.66326384 |
| 21 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.65568284 |
| 22 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.63563070 |
| 23 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.62963831 |
| 24 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.60246464 |
| 25 | KDM2B_26808549_Chip-Seq_REH_Human | 1.54019175 |
| 26 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.53776565 |
| 27 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.53342087 |
| 28 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.53181540 |
| 29 | GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.52727353 |
| 30 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.48955945 |
| 31 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.48418830 |
| 32 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.47247668 |
| 33 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.47118825 |
| 34 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.39349384 |
| 35 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 1.38400548 |
| 36 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.34914779 |
| 37 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.34914779 |
| 38 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.30432755 |
| 39 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.28576085 |
| 40 | * REST_21632747_ChIP-Seq_MESCs_Mouse | 1.26114760 |
| 41 | LUZP1_20508642_ChIP-Seq_ESCs_Mouse | 1.25896104 |
| 42 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.23841554 |
| 43 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.22708525 |
| 44 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.22272295 |
| 45 | GATA3_21867929_ChIP-Seq_TH1_Mouse | 1.21270992 |
| 46 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.20817466 |
| 47 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.20552462 |
| 48 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.19356567 |
| 49 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 1.17983167 |
| 50 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.17407500 |
| 51 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 1.16771443 |
| 52 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.16313289 |
| 53 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.16158910 |
| 54 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.15594776 |
| 55 | FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.14971157 |
| 56 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.14543456 |
| 57 | OCT4_18555785_Chip-Seq_ESCs_Mouse | 1.13756582 |
| 58 | CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.13298163 |
| 59 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 1.12663577 |
| 60 | P53_22387025_ChIP-Seq_ESCs_Mouse | 1.12186794 |
| 61 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.10538712 |
| 62 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 1.09813890 |
| 63 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.09654138 |
| 64 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.07833889 |
| 65 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.07833889 |
| 66 | PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 1.07315924 |
| 67 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 1.07003660 |
| 68 | P300_18555785_Chip-Seq_ESCs_Mouse | 1.05768456 |
| 69 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.04467218 |
| 70 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.03848358 |
| 71 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.03235851 |
| 72 | KLF4_18555785_Chip-Seq_ESCs_Mouse | 1.03094181 |
| 73 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 1.02768118 |
| 74 | EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 1.01124436 |
| 75 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.00555111 |
| 76 | ESET_19884257_ChIP-Seq_ESCs_Mouse | 0.99540449 |
| 77 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 0.99094147 |
| 78 | SPI1_26923725_Chip-Seq_HPCs_Mouse | 0.99016717 |
| 79 | ESRRB_18555785_Chip-Seq_ESCs_Mouse | 0.98396112 |
| 80 | PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 0.97395623 |
| 81 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 0.97336739 |
| 82 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 0.96803555 |
| 83 | TAF15_26573619_Chip-Seq_HEK293_Human | 0.96079810 |
| 84 | SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.95311589 |
| 85 | ERG_20517297_ChIP-Seq_VCAP_Human | 0.93815580 |
| 86 | PU1_27457419_Chip-Seq_LIVER_Mouse | 0.93461019 |
| 87 | RNF2_27304074_Chip-Seq_NSC_Mouse | 0.93055141 |
| 88 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 0.92744114 |
| 89 | RXRA_24833708_ChIP-Seq_LIVER_Mouse | 0.92431187 |
| 90 | RARA_24833708_ChIP-Seq_LIVER_Mouse | 0.90681557 |
| 91 | RCOR3_21632747_ChIP-Seq_MESCs_Mouse | 0.90012951 |
| 92 | SOX2_18555785_Chip-Seq_ESCs_Mouse | 0.89895414 |
| 93 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 0.89404479 |
| 94 | NFYB_21822215_ChIP-Seq_K562_Human | 0.89229120 |
| 95 | MYC_27129775_Chip-Seq_CORNEA_Mouse | 0.89201883 |
| 96 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 0.88842226 |
| 97 | LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse | 0.88688400 |
| 98 | PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse | 0.88211085 |
| 99 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 0.86968683 |
| 100 | * CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.86078874 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 6.09410229 |
| 2 | MP0001929_abnormal_gametogenesis | 5.60075556 |
| 3 | MP0008877_abnormal_DNA_methylation | 4.77843815 |
| 4 | MP0002210_abnormal_sex_determination | 3.69573540 |
| 5 | MP0002161_abnormal_fertility/fecundity | 3.28871413 |
| 6 | MP0001145_abnormal_male_reproductive | 3.10774086 |
| 7 | MP0000653_abnormal_sex_gland | 2.69703605 |
| 8 | MP0002653_abnormal_ependyma_morphology | 2.65167663 |
| 9 | MP0005670_abnormal_white_adipose | 2.20841346 |
| 10 | MP0005410_abnormal_fertilization | 16.0119341 |
| 11 | MP0002160_abnormal_reproductive_system | 1.84532616 |
| 12 | MP0005623_abnormal_meninges_morphology | 1.84042986 |
| 13 | MP0003646_muscle_fatigue | 1.47739672 |
| 14 | MP0008057_abnormal_DNA_replication | 1.39287180 |
| 15 | MP0004233_abnormal_muscle_weight | 1.34895805 |
| 16 | MP0002282_abnormal_trachea_morphology | 1.21474560 |
| 17 | MP0008058_abnormal_DNA_repair | 1.19991798 |
| 18 | MP0002102_abnormal_ear_morphology | 1.14913289 |
| 19 | MP0005647_abnormal_sex_gland | 1.13472005 |
| 20 | MP0001765_abnormal_ion_homeostasis | 1.07639900 |
| 21 | MP0009046_muscle_twitch | 1.00690895 |
| 22 | MP0001984_abnormal_olfaction | 0.98647261 |
| 23 | MP0005389_reproductive_system_phenotype | 0.94882219 |
| 24 | MP0003011_delayed_dark_adaptation | 0.94725412 |
| 25 | MP0010094_abnormal_chromosome_stability | 0.87163292 |
| 26 | MP0002234_abnormal_pharynx_morphology | 0.85403716 |
| 27 | MP0008995_early_reproductive_senescence | 0.82800992 |
| 28 | MP0000569_abnormal_digit_pigmentation | 0.59345014 |
| 29 | MP0003786_premature_aging | 0.56918512 |
| 30 | MP0005636_abnormal_mineral_homeostasis | 0.56182725 |
| 31 | MP0000358_abnormal_cell_content/ | 0.53638833 |
| 32 | MP0003878_abnormal_ear_physiology | 0.53210946 |
| 33 | MP0005377_hearing/vestibular/ear_phenot | 0.53210946 |
| 34 | MP0003115_abnormal_respiratory_system | 0.51711587 |
| 35 | MP0005551_abnormal_eye_electrophysiolog | 0.49823026 |
| 36 | MP0003111_abnormal_nucleus_morphology | 0.49814503 |
| 37 | MP0005253_abnormal_eye_physiology | 0.48698008 |
| 38 | MP0008007_abnormal_cellular_replicative | 0.48441095 |
| 39 | MP0002928_abnormal_bile_duct | 0.45943175 |
| 40 | MP0003699_abnormal_female_reproductive | 0.45587597 |
| 41 | MP0005666_abnormal_adipose_tissue | 0.44382250 |
| 42 | MP0005397_hematopoietic_system_phenotyp | 0.43500871 |
| 43 | MP0001545_abnormal_hematopoietic_system | 0.43500871 |
| 44 | MP0002736_abnormal_nociception_after | 0.42666901 |
| 45 | MP0009278_abnormal_bone_marrow | 0.41952488 |
| 46 | MP0004036_abnormal_muscle_relaxation | 0.41500165 |
| 47 | MP0004019_abnormal_vitamin_homeostasis | 0.41490117 |
| 48 | MP0001119_abnormal_female_reproductive | 0.41280865 |
| 49 | MP0001324_abnormal_eye_pigmentation | 0.41251819 |
| 50 | MP0002269_muscular_atrophy | 0.39641983 |
| 51 | MP0003950_abnormal_plasma_membrane | 0.39015346 |
| 52 | MP0006072_abnormal_retinal_apoptosis | 0.38840627 |
| 53 | MP0001764_abnormal_homeostasis | 0.38809897 |
| 54 | MP0003329_amyloid_beta_deposits | 0.38289161 |
| 55 | MP0004808_abnormal_hematopoietic_stem | 0.35676329 |
| 56 | MP0006036_abnormal_mitochondrial_physio | 0.34847966 |
| 57 | MP0001293_anophthalmia | 0.34547328 |
| 58 | MP0005391_vision/eye_phenotype | 0.33070339 |
| 59 | MP0004133_heterotaxia | 0.32099711 |
| 60 | MP0010307_abnormal_tumor_latency | 0.31769111 |
| 61 | MP0002971_abnormal_brown_adipose | 0.27932541 |
| 62 | MP0004742_abnormal_vestibular_system | 0.27716852 |
| 63 | MP0009115_abnormal_fat_cell | 0.27175176 |
| 64 | MP0004134_abnormal_chest_morphology | 0.25715703 |
| 65 | MP0003633_abnormal_nervous_system | 0.24438940 |
| 66 | MP0001730_embryonic_growth_arrest | 0.23952756 |
| 67 | MP0004811_abnormal_neuron_physiology | 0.22603632 |
| 68 | MP0003861_abnormal_nervous_system | 0.22052148 |
| 69 | MP0002108_abnormal_muscle_morphology | 0.21926856 |
| 70 | MP0003045_fibrosis | 0.21803495 |
| 71 | MP0001968_abnormal_touch/_nociception | 0.20537834 |
| 72 | MP0002152_abnormal_brain_morphology | 0.20450234 |
| 73 | MP0003879_abnormal_hair_cell | 0.19807367 |
| 74 | MP0004043_abnormal_pH_regulation | 0.19593803 |
| 75 | MP0002139_abnormal_hepatobiliary_system | 0.19335193 |
| 76 | MP0001727_abnormal_embryo_implantation | 0.19177240 |
| 77 | MP0003195_calcinosis | 0.18045813 |
| 78 | MP0000313_abnormal_cell_death | 0.17633905 |
| 79 | MP0006035_abnormal_mitochondrial_morpho | 0.17159103 |
| 80 | MP0003631_nervous_system_phenotype | 0.16954170 |
| 81 | MP0002169_no_abnormal_phenotype | 0.16645582 |
| 82 | MP0002873_normal_phenotype | 0.16379667 |
| 83 | MP0003942_abnormal_urinary_system | 0.16091901 |
| 84 | MP0002229_neurodegeneration | 0.15771018 |
| 85 | MP0000534_abnormal_ureter_morphology | 0.15633502 |
| 86 | MP0001661_extended_life_span | 0.15575656 |
| 87 | MP0000604_amyloidosis | 0.14638324 |
| 88 | MP0001440_abnormal_grooming_behavior | 0.14195615 |
| 89 | MP0005195_abnormal_posterior_eye | 0.14119740 |
| 90 | MP0003077_abnormal_cell_cycle | 0.13290359 |
| 91 | MP0001919_abnormal_reproductive_system | 0.13015873 |
| 92 | MP0002092_abnormal_eye_morphology | 0.12304225 |
| 93 | MP0002084_abnormal_developmental_patter | 0.12239759 |
| 94 | MP0008961_abnormal_basal_metabolism | 0.12212787 |
| 95 | MP0000001_mammalian_phenotype | 0.11811582 |
| 96 | MP0000427_abnormal_hair_cycle | 0.11618910 |
| 97 | MP0000751_myopathy | 0.11539856 |
| 98 | MP0003948_abnormal_gas_homeostasis | 0.10733502 |
| 99 | MP0002168_other_aberrant_phenotype | 0.10513128 |
| 100 | MP0003936_abnormal_reproductive_system | 0.10440789 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal respiratory motile cilium physiology (HP:0012261) | 9.49431301 |
| 2 | Abnormal respiratory epithelium morphology (HP:0012253) | 9.28447787 |
| 3 | Abnormal respiratory motile cilium morphology (HP:0005938) | 9.28447787 |
| 4 | Rhinitis (HP:0012384) | 7.80823131 |
| 5 | Abnormal ciliary motility (HP:0012262) | 7.68275330 |
| 6 | Chronic bronchitis (HP:0004469) | 7.44604800 |
| 7 | Infertility (HP:0000789) | 6.51549804 |
| 8 | Nasal polyposis (HP:0100582) | 6.39573791 |
| 9 | Abnormality of the nasal mucosa (HP:0000433) | 5.24580216 |
| 10 | Bronchiectasis (HP:0002110) | 4.52077088 |
| 11 | Bronchitis (HP:0012387) | 4.46393865 |
| 12 | Nephronophthisis (HP:0000090) | 4.21064513 |
| 13 | Male infertility (HP:0003251) | 3.70065864 |
| 14 | Recurrent sinusitis (HP:0011108) | 3.46962305 |
| 15 | Recurrent otitis media (HP:0000403) | 3.24596123 |
| 16 | Abnormality of the renal medulla (HP:0100957) | 3.21594282 |
| 17 | Abnormal spermatogenesis (HP:0008669) | 3.05633405 |
| 18 | Tubulointerstitial nephritis (HP:0001970) | 2.98799029 |
| 19 | Gonadotropin excess (HP:0000837) | 2.77279128 |
| 20 | Medial flaring of the eyebrow (HP:0010747) | 2.73674995 |
| 21 | Abnormality of the lower motor neuron (HP:0002366) | 2.52238950 |
| 22 | Molar tooth sign on MRI (HP:0002419) | 2.50379094 |
| 23 | Abnormality of midbrain morphology (HP:0002418) | 2.50379094 |
| 24 | Recurrent bronchitis (HP:0002837) | 2.47586575 |
| 25 | Tubular atrophy (HP:0000092) | 2.45261855 |
| 26 | Tubulointerstitial abnormality (HP:0001969) | 2.37466450 |
| 27 | Impulsivity (HP:0100710) | 2.26019928 |
| 28 | Azoospermia (HP:0000027) | 2.19220765 |
| 29 | Amyotrophic lateral sclerosis (HP:0007354) | 2.02980536 |
| 30 | Fibular hypoplasia (HP:0003038) | 2.01568521 |
| 31 | Postaxial foot polydactyly (HP:0001830) | 2.00724621 |
| 32 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 13.4176729 |
| 33 | Absent/shortened dynein arms (HP:0200106) | 13.3345634 |
| 34 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 13.3345634 |
| 35 | Stage 5 chronic kidney disease (HP:0003774) | 1.95220892 |
| 36 | Polydipsia (HP:0001959) | 1.83456003 |
| 37 | Abnormal drinking behavior (HP:0030082) | 1.83456003 |
| 38 | Congenital hepatic fibrosis (HP:0002612) | 1.80272900 |
| 39 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.78783511 |
| 40 | Cholecystitis (HP:0001082) | 1.77674970 |
| 41 | Abnormal gallbladder physiology (HP:0012438) | 1.77674970 |
| 42 | Tubulointerstitial fibrosis (HP:0005576) | 1.76925926 |
| 43 | Abnormality of the renal cortex (HP:0011035) | 1.72807081 |
| 44 | Abnormality of the dental root (HP:0006486) | 1.70215508 |
| 45 | Taurodontia (HP:0000679) | 1.70215508 |
| 46 | Abnormality of permanent molar morphology (HP:0011071) | 1.70215508 |
| 47 | Spastic tetraparesis (HP:0001285) | 1.68532274 |
| 48 | Impaired proprioception (HP:0010831) | 1.67611300 |
| 49 | Congenital primary aphakia (HP:0007707) | 1.67206452 |
| 50 | Gait imbalance (HP:0002141) | 1.66781419 |
| 51 | Abnormality of renal excretion (HP:0011036) | 1.65149335 |
| 52 | Chronic sinusitis (HP:0011109) | 1.64311129 |
| 53 | Oculomotor apraxia (HP:0000657) | 1.61577307 |
| 54 | Heterotopia (HP:0002282) | 1.61376800 |
| 55 | Facial cleft (HP:0002006) | 1.61227938 |
| 56 | Short ribs (HP:0000773) | 1.59515380 |
| 57 | Renal dysplasia (HP:0000110) | 1.58680668 |
| 58 | Abnormality of molar (HP:0011077) | 1.58476684 |
| 59 | Abnormality of molar morphology (HP:0011070) | 1.58476684 |
| 60 | Postaxial hand polydactyly (HP:0001162) | 1.57606010 |
| 61 | Dyschromatopsia (HP:0007641) | 1.55585614 |
| 62 | Abnormality of the dental pulp (HP:0006479) | 1.55446609 |
| 63 | Abnormality of dentin (HP:0010299) | 1.55142079 |
| 64 | Absent frontal sinuses (HP:0002688) | 1.52914578 |
| 65 | Supernumerary spleens (HP:0009799) | 1.49006825 |
| 66 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.46455743 |
| 67 | Bell-shaped thorax (HP:0001591) | 1.45422353 |
| 68 | Microglossia (HP:0000171) | 1.45251517 |
| 69 | Nephrogenic diabetes insipidus (HP:0009806) | 1.43693759 |
| 70 | Bile duct proliferation (HP:0001408) | 1.43252859 |
| 71 | Abnormal biliary tract physiology (HP:0012439) | 1.43252859 |
| 72 | J-shaped sella turcica (HP:0002680) | 1.42180538 |
| 73 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.40405848 |
| 74 | Absent epiphyses (HP:0010577) | 1.40405848 |
| 75 | Decreased central vision (HP:0007663) | 1.37961382 |
| 76 | Cone-shaped epiphyses of the phalanges of the hand (HP:0010230) | 1.35917140 |
| 77 | Choroideremia (HP:0001139) | 1.35362290 |
| 78 | Upper motor neuron abnormality (HP:0002127) | 1.34895572 |
| 79 | Cystic liver disease (HP:0006706) | 1.32392029 |
| 80 | Short thorax (HP:0010306) | 1.30468850 |
| 81 | Abnormality of ocular smooth pursuit (HP:0000617) | 1.28434683 |
| 82 | Asymmetric septal hypertrophy (HP:0001670) | 1.28366481 |
| 83 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.28055483 |
| 84 | Abnormal urine output (HP:0012590) | 1.27387661 |
| 85 | Median cleft lip (HP:0000161) | 1.27049791 |
| 86 | Deformed sella turcica (HP:0002681) | 1.26578739 |
| 87 | Aplasia/Hypoplasia of the fibula (HP:0006492) | 1.25426911 |
| 88 | Vaginal atresia (HP:0000148) | 1.25310869 |
| 89 | Poor coordination (HP:0002370) | 1.24792146 |
| 90 | Broad distal phalanx of finger (HP:0009836) | 1.22769962 |
| 91 | Genital tract atresia (HP:0001827) | 1.22761470 |
| 92 | Nephropathy (HP:0000112) | 1.22669353 |
| 93 | Pancreatic fibrosis (HP:0100732) | 1.21357356 |
| 94 | Vascular calcification (HP:0004934) | 1.21125134 |
| 95 | Cerebellar dysplasia (HP:0007033) | 1.20703891 |
| 96 | Bundle branch block (HP:0011710) | 1.18917596 |
| 97 | Easy fatigability (HP:0003388) | 1.17326896 |
| 98 | Breast carcinoma (HP:0003002) | 1.15023283 |
| 99 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 1.14345943 |
| 100 | Fatigable weakness (HP:0003473) | 1.14163589 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK4 | 9.18948736 |
| 2 | PDK3 | 9.18948736 |
| 3 | PDK2 | 5.96098740 |
| 4 | TESK1 | 4.77179941 |
| 5 | PRKD3 | 3.84411010 |
| 6 | ICK | 3.49382487 |
| 7 | WNK4 | 2.19495270 |
| 8 | PTK2B | 2.15024734 |
| 9 | STK39 | 2.14320687 |
| 10 | PNCK | 2.10440299 |
| 11 | NEK2 | 1.69669356 |
| 12 | STK38 | 1.42369251 |
| 13 | DYRK1B | 1.09384007 |
| 14 | PDK1 | 1.02721175 |
| 15 | WNK1 | 0.94034616 |
| 16 | MAPK15 | 0.92964914 |
| 17 | IRAK1 | 0.91986663 |
| 18 | TYRO3 | 0.81279742 |
| 19 | CCNB1 | 0.78592439 |
| 20 | PASK | 0.77692175 |
| 21 | STK3 | 0.74642020 |
| 22 | DYRK3 | 0.72906780 |
| 23 | TTK | 0.59006843 |
| 24 | LMTK2 | 0.58181985 |
| 25 | PINK1 | 0.55062878 |
| 26 | CHEK2 | 0.54341769 |
| 27 | CDC7 | 0.52445795 |
| 28 | PLK4 | 0.51662003 |
| 29 | CAMK1G | 0.50391724 |
| 30 | TESK2 | 0.47152997 |
| 31 | PDPK1 | 0.45808153 |
| 32 | MAP2K6 | 0.44541575 |
| 33 | CHEK1 | 0.44299525 |
| 34 | WEE1 | 0.42214061 |
| 35 | STK38L | 0.40036091 |
| 36 | RIPK4 | 0.36433491 |
| 37 | PRKCG | 0.35809365 |
| 38 | ATR | 0.35803993 |
| 39 | MUSK | 0.34603184 |
| 40 | EEF2K | 0.34191632 |
| 41 | NTRK2 | 0.33131642 |
| 42 | IRAK2 | 0.31663100 |
| 43 | ATM | 0.29409596 |
| 44 | PAK1 | 0.28977047 |
| 45 | MAPKAPK5 | 0.27610426 |
| 46 | CDK12 | 0.25160924 |
| 47 | MTOR | 0.24178351 |
| 48 | BMPR1B | 0.22370057 |
| 49 | CAMKK1 | 0.22178203 |
| 50 | PLK1 | 0.19013425 |
| 51 | PAK2 | 0.18221584 |
| 52 | PRKAA1 | 0.17352628 |
| 53 | RPS6KB1 | 0.16655057 |
| 54 | MARK2 | 0.13012547 |
| 55 | BRSK2 | 0.12551655 |
| 56 | PRKCZ | 0.10945202 |
| 57 | MAP3K10 | 0.10105144 |
| 58 | PRKCQ | 0.09882216 |
| 59 | NEK6 | 0.08565097 |
| 60 | CDK15 | 0.08187953 |
| 61 | BRAF | 0.06865511 |
| 62 | CSF1R | 0.06596992 |
| 63 | CSNK2A1 | 0.06424064 |
| 64 | BRSK1 | 0.06245149 |
| 65 | WNK3 | 0.06101690 |
| 66 | CDK18 | 0.05748936 |
| 67 | CSNK1D | 0.05648587 |
| 68 | PRKG2 | 0.05259002 |
| 69 | PRKACG | 0.05181109 |
| 70 | PRKG1 | 0.05109987 |
| 71 | STK11 | 0.05079937 |
| 72 | CDK11A | 0.04685876 |
| 73 | YES1 | 0.04562265 |
| 74 | GSK3B | 0.04173429 |
| 75 | RPS6KA1 | 0.03778670 |
| 76 | MARK3 | 0.03636738 |
| 77 | CAMK2A | 0.03359586 |
| 78 | BUB1 | 0.03248775 |
| 79 | PKN1 | 0.03084419 |
| 80 | CDK2 | 0.02908168 |
| 81 | CDK1 | 0.02521064 |
| 82 | CDK14 | 0.01980425 |
| 83 | PRKCB | 0.01527673 |
| 84 | PAK4 | 0.01188878 |
| 85 | CSNK2A2 | 0.00660701 |
| 86 | MAPK8 | 0.00519052 |
| 87 | EGFR | 0.00156411 |
| 88 | CDK4 | -0.0399521 |
| 89 | STK10 | -0.0388024 |
| 90 | MAP3K5 | -0.0355612 |
| 91 | PRKCD | -0.0313576 |
| 92 | PRKACA | -0.0240575 |
| 93 | RPS6KA3 | -0.0235533 |
| 94 | PDGFRB | -0.0173299 |
| 95 | ZAP70 | -0.0135907 |
| 96 | MAP3K4 | -0.0124407 |
| 97 | PRKCA | -0.0054512 |
| 98 | PRKDC | -0.0048923 |
| 99 | PRKACB | -0.0042994 |
| 100 | CDK3 | -0.0007704 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 4.53662062 |
| 2 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 4.39182325 |
| 3 | Pyruvate metabolism_Homo sapiens_hsa00620 | 4.17994604 |
| 4 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 3.78916860 |
| 5 | Propanoate metabolism_Homo sapiens_hsa00640 | 3.29056449 |
| 6 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 2.81129438 |
| 7 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 2.76311163 |
| 8 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 2.66733242 |
| 9 | Basal transcription factors_Homo sapiens_hsa03022 | 2.55920832 |
| 10 | Selenocompound metabolism_Homo sapiens_hsa00450 | 2.38766742 |
| 11 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 2.19714252 |
| 12 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 2.03754085 |
| 13 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 2.02669705 |
| 14 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 2.01171954 |
| 15 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.97899274 |
| 16 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 1.90612252 |
| 17 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.90058377 |
| 18 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.89112703 |
| 19 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.79734555 |
| 20 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.69662229 |
| 21 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.66348595 |
| 22 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.56646497 |
| 23 | Huntingtons disease_Homo sapiens_hsa05016 | 1.49789632 |
| 24 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.49076644 |
| 25 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.46432676 |
| 26 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.41201591 |
| 27 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.40089946 |
| 28 | Carbon metabolism_Homo sapiens_hsa01200 | 1.34674114 |
| 29 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.33091341 |
| 30 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.31907642 |
| 31 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.30972664 |
| 32 | Renin secretion_Homo sapiens_hsa04924 | 1.21986342 |
| 33 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.21854626 |
| 34 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.19415626 |
| 35 | Mineral absorption_Homo sapiens_hsa04978 | 1.19325653 |
| 36 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.13726185 |
| 37 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.08556533 |
| 38 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.07877826 |
| 39 | Purine metabolism_Homo sapiens_hsa00230 | 1.07012464 |
| 40 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 1.05085079 |
| 41 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.00612999 |
| 42 | RNA transport_Homo sapiens_hsa03013 | 0.93542707 |
| 43 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.91513193 |
| 44 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.87955670 |
| 45 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.85960251 |
| 46 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.84650836 |
| 47 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.84528901 |
| 48 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.82357285 |
| 49 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.81402738 |
| 50 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.81288791 |
| 51 | Long-term potentiation_Homo sapiens_hsa04720 | 0.78622058 |
| 52 | ABC transporters_Homo sapiens_hsa02010 | 0.75972480 |
| 53 | Insulin secretion_Homo sapiens_hsa04911 | 0.75308917 |
| 54 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.69803544 |
| 55 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.68214532 |
| 56 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.67337057 |
| 57 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.66300814 |
| 58 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.66057712 |
| 59 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.63318901 |
| 60 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.61024861 |
| 61 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.58960852 |
| 62 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.58612816 |
| 63 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.55677583 |
| 64 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.54707403 |
| 65 | Bile secretion_Homo sapiens_hsa04976 | 0.50540910 |
| 66 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.47618741 |
| 67 | Legionellosis_Homo sapiens_hsa05134 | 0.46663086 |
| 68 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.45919157 |
| 69 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.44574128 |
| 70 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.43472351 |
| 71 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.43297859 |
| 72 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.42262143 |
| 73 | Metabolic pathways_Homo sapiens_hsa01100 | 0.41697358 |
| 74 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.40652311 |
| 75 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.37453675 |
| 76 | Endocytosis_Homo sapiens_hsa04144 | 0.36157100 |
| 77 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.35140990 |
| 78 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.34061781 |
| 79 | Salivary secretion_Homo sapiens_hsa04970 | 0.31996006 |
| 80 | Circadian entrainment_Homo sapiens_hsa04713 | 0.31963922 |
| 81 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.31855984 |
| 82 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.31111202 |
| 83 | Taste transduction_Homo sapiens_hsa04742 | 0.30303309 |
| 84 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.29691373 |
| 85 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.29324155 |
| 86 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.25086455 |
| 87 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.22725968 |
| 88 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.22664259 |
| 89 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.21868062 |
| 90 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.21025964 |
| 91 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.20722757 |
| 92 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.20191387 |
| 93 | Retinol metabolism_Homo sapiens_hsa00830 | 0.19961764 |
| 94 | Alcoholism_Homo sapiens_hsa05034 | 0.16491543 |
| 95 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.14658527 |
| 96 | Cocaine addiction_Homo sapiens_hsa05030 | 0.12715416 |
| 97 | Homologous recombination_Homo sapiens_hsa03440 | 0.11161650 |
| 98 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.10005988 |
| 99 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.08490829 |
| 100 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.07864651 |

