

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | binding of sperm to zona pellucida (GO:0007339) | 9.97762508 |
| 2 | cell-cell recognition (GO:0009988) | 9.87709777 |
| 3 | plasma membrane fusion (GO:0045026) | 9.69303271 |
| 4 | reproduction (GO:0000003) | 9.42026308 |
| 5 | spermatid development (GO:0007286) | 8.88081300 |
| 6 | axonemal dynein complex assembly (GO:0070286) | 8.77244909 |
| 7 | epithelial cilium movement (GO:0003351) | 8.62061074 |
| 8 | motile cilium assembly (GO:0044458) | 8.31378438 |
| 9 | cilium or flagellum-dependent cell motility (GO:0001539) | 7.79136707 |
| 10 | regulation of cilium movement (GO:0003352) | 7.68266952 |
| 11 | male meiosis (GO:0007140) | 7.66390579 |
| 12 | piRNA metabolic process (GO:0034587) | 7.50986986 |
| 13 | synaptonemal complex assembly (GO:0007130) | 7.29501232 |
| 14 | single fertilization (GO:0007338) | 7.23430330 |
| 15 | synaptonemal complex organization (GO:0070193) | 7.18447086 |
| 16 | cilium movement (GO:0003341) | 7.00951851 |
| 17 | microtubule depolymerization (GO:0007019) | 6.56425586 |
| 18 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 6.51482497 |
| 19 | spermatogenesis (GO:0007283) | 6.46471079 |
| 20 | male gamete generation (GO:0048232) | 6.44501172 |
| 21 | sperm capacitation (GO:0048240) | 6.42934702 |
| 22 | negative regulation of inclusion body assembly (GO:0090084) | 6.27197002 |
| 23 | fertilization (GO:0009566) | 6.15914528 |
| 24 | gamete generation (GO:0007276) | 6.05189457 |
| 25 | organic cation transport (GO:0015695) | 5.42758428 |
| 26 | chromosome condensation (GO:0030261) | 5.42313081 |
| 27 | microtubule severing (GO:0051013) | 5.38581691 |
| 28 | spermatid nucleus differentiation (GO:0007289) | 5.36613127 |
| 29 | regulation of inclusion body assembly (GO:0090083) | 5.24341054 |
| 30 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 5.13821829 |
| 31 | germ cell development (GO:0007281) | 5.05603762 |
| 32 | DNA packaging (GO:0006323) | 5.02955439 |
| 33 | chromosome organization involved in meiosis (GO:0070192) | 4.98593631 |
| 34 | DNA methylation involved in gamete generation (GO:0043046) | 4.96611980 |
| 35 | calcium ion-dependent exocytosis (GO:0017156) | 4.89916480 |
| 36 | male meiosis I (GO:0007141) | 4.84032122 |
| 37 | multicellular organismal reproductive process (GO:0048609) | 4.74230497 |
| 38 | cell recognition (GO:0008037) | 4.72480815 |
| 39 | meiotic nuclear division (GO:0007126) | 4.62268741 |
| 40 | glycerol ether metabolic process (GO:0006662) | 4.59307150 |
| 41 | monoubiquitinated protein deubiquitination (GO:0035520) | 4.40172549 |
| 42 | single strand break repair (GO:0000012) | 4.38712840 |
| 43 | regulation of microtubule-based movement (GO:0060632) | 4.36664238 |
| 44 | ventricular system development (GO:0021591) | 4.29441331 |
| 45 | ether metabolic process (GO:0018904) | 4.23303859 |
| 46 | meiosis I (GO:0007127) | 4.19607673 |
| 47 | meiotic cell cycle (GO:0051321) | 3.96066022 |
| 48 | seminiferous tubule development (GO:0072520) | 3.89249732 |
| 49 | sexual reproduction (GO:0019953) | 3.81506353 |
| 50 | chaperone-mediated protein complex assembly (GO:0051131) | 3.76348746 |
| 51 | multicellular organismal development (GO:0007275) | 3.69413261 |
| 52 | protein polyglutamylation (GO:0018095) | 3.67722499 |
| 53 | regulation of spindle checkpoint (GO:0090231) | 3.65401161 |
| 54 | microtubule polymerization or depolymerization (GO:0031109) | 3.58458569 |
| 55 | protein K11-linked deubiquitination (GO:0035871) | 3.41428878 |
| 56 | meiotic cell cycle process (GO:1903046) | 3.41069307 |
| 57 | mitotic sister chromatid cohesion (GO:0007064) | 3.33308656 |
| 58 | sequestering of actin monomers (GO:0042989) | 3.13688943 |
| 59 | left/right pattern formation (GO:0060972) | 3.13009743 |
| 60 | protein localization to chromosome, centromeric region (GO:0071459) | 3.09102979 |
| 61 | nucleus organization (GO:0006997) | 3.07031874 |
| 62 | histone exchange (GO:0043486) | 2.96234144 |
| 63 | genitalia morphogenesis (GO:0035112) | 2.93403713 |
| 64 | gene silencing by RNA (GO:0031047) | 2.89446694 |
| 65 | glycolytic process (GO:0006096) | 2.83324035 |
| 66 | synapsis (GO:0007129) | 2.82218530 |
| 67 | centriole assembly (GO:0098534) | 2.81954134 |
| 68 | polyol catabolic process (GO:0046174) | 2.76572251 |
| 69 | nucleoside diphosphate phosphorylation (GO:0006165) | 2.73391658 |
| 70 | protein refolding (GO:0042026) | 2.72092492 |
| 71 | polyamine biosynthetic process (GO:0006596) | 2.71759986 |
| 72 | regulation of meiosis I (GO:0060631) | 2.67663993 |
| 73 | cilium morphogenesis (GO:0060271) | 2.66447839 |
| 74 | interferon-gamma secretion (GO:0072643) | 2.65938927 |
| 75 | protein complex localization (GO:0031503) | 2.65479671 |
| 76 | positive regulation of macrophage activation (GO:0043032) | 2.65143447 |
| 77 | chromatin silencing (GO:0006342) | 2.62133906 |
| 78 | centriole replication (GO:0007099) | 2.61936985 |
| 79 | GTP biosynthetic process (GO:0006183) | 2.61651028 |
| 80 | cilium organization (GO:0044782) | 2.60244000 |
| 81 | gene silencing (GO:0016458) | 2.57963967 |
| 82 | alditol metabolic process (GO:0019400) | 2.56302507 |
| 83 | carnitine transport (GO:0015879) | 2.55700761 |
| 84 | amino-acid betaine transport (GO:0015838) | 2.55700761 |
| 85 | sister chromatid cohesion (GO:0007062) | 2.55350570 |
| 86 | regulation of cilium assembly (GO:1902017) | 2.52334191 |
| 87 | cilium assembly (GO:0042384) | 2.51615321 |
| 88 | cellular component assembly involved in morphogenesis (GO:0010927) | 2.51101638 |
| 89 | regulation of centriole replication (GO:0046599) | 2.49216584 |
| 90 | lactate metabolic process (GO:0006089) | 2.44235096 |
| 91 | microtubule-based movement (GO:0007018) | 2.42534738 |
| 92 | regulation of attachment of spindle microtubules to kinetochore (GO:0051988) | 2.39459934 |
| 93 | cell wall macromolecule catabolic process (GO:0016998) | 13.4068328 |
| 94 | cell wall macromolecule metabolic process (GO:0044036) | 13.4068328 |
| 95 | fusion of sperm to egg plasma membrane (GO:0007342) | 12.7577335 |
| 96 | sperm motility (GO:0030317) | 12.2791183 |
| 97 | acrosome assembly (GO:0001675) | 11.5571884 |
| 98 | sperm-egg recognition (GO:0035036) | 11.0668597 |
| 99 | multicellular organism reproduction (GO:0032504) | 11.0217486 |
| 100 | acrosome reaction (GO:0007340) | 10.6453233 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 9.08142944 |
| 2 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 4.83970835 |
| 3 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 3.21850415 |
| 4 | EZH2_22144423_ChIP-Seq_EOC_Human | 3.14298835 |
| 5 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.71919279 |
| 6 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.60331602 |
| 7 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 2.51799084 |
| 8 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 2.42881034 |
| 9 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.41272406 |
| 10 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 2.37897727 |
| 11 | VDR_22108803_ChIP-Seq_LS180_Human | 2.34182093 |
| 12 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.33187058 |
| 13 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.14822383 |
| 14 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 2.13362580 |
| 15 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.10183198 |
| 16 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 2.05560204 |
| 17 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.03894208 |
| 18 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 2.00741933 |
| 19 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.88081455 |
| 20 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.85774270 |
| 21 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.80468302 |
| 22 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.77606091 |
| 23 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.73564662 |
| 24 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 1.72496600 |
| 25 | * FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.70907971 |
| 26 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.62909352 |
| 27 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.61400880 |
| 28 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.60185811 |
| 29 | GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.56362134 |
| 30 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.56289696 |
| 31 | KDM2B_26808549_Chip-Seq_REH_Human | 1.54806370 |
| 32 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.50907368 |
| 33 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.47927572 |
| 34 | GATA3_21867929_ChIP-Seq_TH1_Mouse | 1.47478271 |
| 35 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.46003178 |
| 36 | FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.38714209 |
| 37 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.37946971 |
| 38 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.34914645 |
| 39 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.32176892 |
| 40 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.31897554 |
| 41 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 1.30905947 |
| 42 | CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.30586911 |
| 43 | LUZP1_20508642_ChIP-Seq_ESCs_Mouse | 1.29483764 |
| 44 | SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.28617326 |
| 45 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 1.26435268 |
| 46 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.26344554 |
| 47 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.25764673 |
| 48 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.25277937 |
| 49 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.24937112 |
| 50 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.24937112 |
| 51 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.24930036 |
| 52 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.24144567 |
| 53 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.21100498 |
| 54 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 1.20963339 |
| 55 | CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.18707086 |
| 56 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.18107053 |
| 57 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.17675866 |
| 58 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.17142067 |
| 59 | * SPI1_26923725_Chip-Seq_HPCs_Mouse | 1.16650684 |
| 60 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 1.15219688 |
| 61 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.11296120 |
| 62 | OCT4_18555785_Chip-Seq_ESCs_Mouse | 1.11092116 |
| 63 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.10350873 |
| 64 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.10350873 |
| 65 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.09981917 |
| 66 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.09041326 |
| 67 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.08210289 |
| 68 | ESET_19884257_ChIP-Seq_ESCs_Mouse | 1.07996844 |
| 69 | KLF4_18555785_Chip-Seq_ESCs_Mouse | 1.07979044 |
| 70 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 1.07750297 |
| 71 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.07631174 |
| 72 | P53_22387025_ChIP-Seq_ESCs_Mouse | 1.06656026 |
| 73 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 1.05253107 |
| 74 | LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.03757884 |
| 75 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.03578022 |
| 76 | ESRRB_18555785_Chip-Seq_ESCs_Mouse | 1.02838650 |
| 77 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.01447395 |
| 78 | GATA1_19941827_ChIP-Seq_MEL86_Mouse | 1.01212759 |
| 79 | GF1B_26923725_Chip-Seq_HPCs_Mouse | 1.00524712 |
| 80 | RXRA_24833708_ChIP-Seq_LIVER_Mouse | 1.00275061 |
| 81 | RCOR3_21632747_ChIP-Seq_MESCs_Mouse | 1.00175078 |
| 82 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.00011180 |
| 83 | REST_21632747_ChIP-Seq_MESCs_Mouse | 0.99817907 |
| 84 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 0.98585619 |
| 85 | STAT3_18555785_ChIP-Seq_MESCs_Mouse | 0.97895870 |
| 86 | PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 0.97148422 |
| 87 | EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 0.96961289 |
| 88 | SOX2_18555785_Chip-Seq_ESCs_Mouse | 0.96714680 |
| 89 | FLI1_21867929_ChIP-Seq_CD8_Mouse | 0.96645498 |
| 90 | P300_18555785_Chip-Seq_ESCs_Mouse | 0.96239565 |
| 91 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 0.95274581 |
| 92 | RARA_24833708_ChIP-Seq_LIVER_Mouse | 0.93815902 |
| 93 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 0.93359489 |
| 94 | NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse | 0.92470000 |
| 95 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 0.92265058 |
| 96 | MYC_27129775_Chip-Seq_CORNEA_Mouse | 0.92126845 |
| 97 | CTCF_18555785_Chip-Seq_ESCs_Mouse | 0.91076767 |
| 98 | PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse | 0.90700705 |
| 99 | SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 0.90655619 |
| 100 | PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 0.90345799 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 5.69741286 |
| 2 | MP0001929_abnormal_gametogenesis | 5.67024058 |
| 3 | MP0008877_abnormal_DNA_methylation | 4.78701776 |
| 4 | MP0002210_abnormal_sex_determination | 3.63192112 |
| 5 | MP0002161_abnormal_fertility/fecundity | 3.36822580 |
| 6 | MP0002653_abnormal_ependyma_morphology | 3.06838740 |
| 7 | MP0001145_abnormal_male_reproductive | 3.05127338 |
| 8 | MP0000653_abnormal_sex_gland | 2.85520449 |
| 9 | MP0003646_muscle_fatigue | 2.48812053 |
| 10 | MP0005670_abnormal_white_adipose | 2.43617716 |
| 11 | MP0005410_abnormal_fertilization | 14.5955863 |
| 12 | MP0002102_abnormal_ear_morphology | 1.88564813 |
| 13 | MP0010094_abnormal_chromosome_stability | 1.57130599 |
| 14 | MP0008058_abnormal_DNA_repair | 1.53600397 |
| 15 | MP0003693_abnormal_embryo_hatching | 1.47342209 |
| 16 | MP0003718_maternal_effect | 1.46092105 |
| 17 | MP0004233_abnormal_muscle_weight | 1.45906363 |
| 18 | MP0002160_abnormal_reproductive_system | 1.40914744 |
| 19 | MP0003111_abnormal_nucleus_morphology | 1.38791395 |
| 20 | MP0002282_abnormal_trachea_morphology | 1.21465747 |
| 21 | MP0005451_abnormal_body_composition | 1.20232463 |
| 22 | MP0003699_abnormal_female_reproductive | 1.18069213 |
| 23 | MP0008057_abnormal_DNA_replication | 1.12760039 |
| 24 | MP0003077_abnormal_cell_cycle | 1.09256933 |
| 25 | MP0001119_abnormal_female_reproductive | 1.02472694 |
| 26 | MP0001529_abnormal_vocalization | 1.01909450 |
| 27 | MP0001984_abnormal_olfaction | 1.01501954 |
| 28 | MP0004957_abnormal_blastocyst_morpholog | 0.96730898 |
| 29 | MP0002736_abnormal_nociception_after | 0.93277069 |
| 30 | MP0005389_reproductive_system_phenotype | 0.93250796 |
| 31 | MP0005623_abnormal_meninges_morphology | 0.90893793 |
| 32 | MP0001730_embryonic_growth_arrest | 0.88602834 |
| 33 | MP0002234_abnormal_pharynx_morphology | 0.88222450 |
| 34 | MP0005647_abnormal_sex_gland | 0.88202711 |
| 35 | MP0001765_abnormal_ion_homeostasis | 0.86979924 |
| 36 | MP0008007_abnormal_cellular_replicative | 0.85044762 |
| 37 | MP0003787_abnormal_imprinting | 0.72605099 |
| 38 | MP0000569_abnormal_digit_pigmentation | 0.69326449 |
| 39 | MP0008995_early_reproductive_senescence | 0.66992812 |
| 40 | MP0005395_other_phenotype | 0.66739066 |
| 41 | MP0008932_abnormal_embryonic_tissue | 0.63807132 |
| 42 | MP0005408_hypopigmentation | 0.61677207 |
| 43 | MP0003115_abnormal_respiratory_system | 0.59809258 |
| 44 | MP0001697_abnormal_embryo_size | 0.59001509 |
| 45 | MP0002085_abnormal_embryonic_tissue | 0.57187078 |
| 46 | MP0002084_abnormal_developmental_patter | 0.56406685 |
| 47 | MP0003890_abnormal_embryonic-extraembry | 0.56295675 |
| 48 | MP0004036_abnormal_muscle_relaxation | 0.54996609 |
| 49 | MP0005380_embryogenesis_phenotype | 0.54354562 |
| 50 | MP0001672_abnormal_embryogenesis/_devel | 0.54354562 |
| 51 | MP0009046_muscle_twitch | 0.53510355 |
| 52 | MP0003315_abnormal_perineum_morphology | 0.53063469 |
| 53 | MP0005636_abnormal_mineral_homeostasis | 0.52047576 |
| 54 | MP0001968_abnormal_touch/_nociception | 0.49811844 |
| 55 | MP0003861_abnormal_nervous_system | 0.49205674 |
| 56 | MP0003123_paternal_imprinting | 0.49077240 |
| 57 | MP0004133_heterotaxia | 0.48056809 |
| 58 | MP0003786_premature_aging | 0.47425901 |
| 59 | MP0000462_abnormal_digestive_system | 0.47058290 |
| 60 | MP0010307_abnormal_tumor_latency | 0.45463102 |
| 61 | MP0003984_embryonic_growth_retardation | 0.44423777 |
| 62 | MP0002269_muscular_atrophy | 0.44135529 |
| 63 | MP0004145_abnormal_muscle_electrophysio | 0.43534786 |
| 64 | MP0003329_amyloid_beta_deposits | 0.43534277 |
| 65 | MP0000534_abnormal_ureter_morphology | 0.42966948 |
| 66 | MP0002088_abnormal_embryonic_growth/wei | 0.40803680 |
| 67 | MP0000358_abnormal_cell_content/ | 0.40437743 |
| 68 | MP0001293_anophthalmia | 0.39933545 |
| 69 | MP0001849_ear_inflammation | 0.39917439 |
| 70 | MP0001764_abnormal_homeostasis | 0.38534120 |
| 71 | MP0005646_abnormal_pituitary_gland | 0.38155854 |
| 72 | MP0000313_abnormal_cell_death | 0.38071929 |
| 73 | MP0004084_abnormal_cardiac_muscle | 0.36973326 |
| 74 | MP0005666_abnormal_adipose_tissue | 0.36458527 |
| 75 | MP0001919_abnormal_reproductive_system | 0.36103393 |
| 76 | MP0002080_prenatal_lethality | 0.35357157 |
| 77 | MP0006036_abnormal_mitochondrial_physio | 0.35231526 |
| 78 | MP0005397_hematopoietic_system_phenotyp | 0.35186321 |
| 79 | MP0001545_abnormal_hematopoietic_system | 0.35186321 |
| 80 | MP0003937_abnormal_limbs/digits/tail_de | 0.34964269 |
| 81 | MP0000350_abnormal_cell_proliferation | 0.34683709 |
| 82 | MP0002277_abnormal_respiratory_mucosa | 0.33299123 |
| 83 | MP0001324_abnormal_eye_pigmentation | 0.32468228 |
| 84 | MP0000432_abnormal_head_morphology | 0.31958296 |
| 85 | MP0003011_delayed_dark_adaptation | 0.31480497 |
| 86 | MP0002169_no_abnormal_phenotype | 0.29643966 |
| 87 | MP0002873_normal_phenotype | 0.29382978 |
| 88 | MP0009250_abnormal_appendicular_skeleto | 0.28198256 |
| 89 | MP0003950_abnormal_plasma_membrane | 0.25831802 |
| 90 | MP0000579_abnormal_nail_morphology | 0.23911871 |
| 91 | MP0006072_abnormal_retinal_apoptosis | 0.23325182 |
| 92 | MP0001727_abnormal_embryo_implantation | 0.23073699 |
| 93 | MP0002152_abnormal_brain_morphology | 0.22316673 |
| 94 | MP0002249_abnormal_larynx_morphology | 0.21542995 |
| 95 | MP0003942_abnormal_urinary_system | 0.21497429 |
| 96 | MP0005551_abnormal_eye_electrophysiolog | 0.21018528 |
| 97 | MP0000001_mammalian_phenotype | 0.20388724 |
| 98 | MP0003121_genomic_imprinting | 0.20270398 |
| 99 | MP0002837_dystrophic_cardiac_calcinosis | 0.19596614 |
| 100 | MP0005187_abnormal_penis_morphology | 0.19051587 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal respiratory motile cilium physiology (HP:0012261) | 9.34445832 |
| 2 | Abnormal respiratory motile cilium morphology (HP:0005938) | 8.50083043 |
| 3 | Abnormal respiratory epithelium morphology (HP:0012253) | 8.50083043 |
| 4 | Chronic bronchitis (HP:0004469) | 7.68672092 |
| 5 | Rhinitis (HP:0012384) | 7.37122684 |
| 6 | Abnormal ciliary motility (HP:0012262) | 7.33862287 |
| 7 | Infertility (HP:0000789) | 6.93758610 |
| 8 | Male infertility (HP:0003251) | 6.25740472 |
| 9 | Nasal polyposis (HP:0100582) | 5.87456129 |
| 10 | Abnormality of the nasal mucosa (HP:0000433) | 4.74223873 |
| 11 | Bronchiectasis (HP:0002110) | 4.43724186 |
| 12 | Bronchitis (HP:0012387) | 4.40587286 |
| 13 | Abnormal spermatogenesis (HP:0008669) | 4.09973674 |
| 14 | Nephronophthisis (HP:0000090) | 3.85069758 |
| 15 | Recurrent otitis media (HP:0000403) | 3.21574095 |
| 16 | Recurrent sinusitis (HP:0011108) | 3.12678525 |
| 17 | Molar tooth sign on MRI (HP:0002419) | 2.93148302 |
| 18 | Abnormality of midbrain morphology (HP:0002418) | 2.93148302 |
| 19 | Medial flaring of the eyebrow (HP:0010747) | 2.89779733 |
| 20 | Abnormality of the renal medulla (HP:0100957) | 2.87168298 |
| 21 | Azoospermia (HP:0000027) | 2.81151887 |
| 22 | Impulsivity (HP:0100710) | 2.52801013 |
| 23 | Tubular atrophy (HP:0000092) | 2.29164581 |
| 24 | Recurrent bronchitis (HP:0002837) | 2.21864082 |
| 25 | Abnormal gallbladder physiology (HP:0012438) | 2.20524753 |
| 26 | Cholecystitis (HP:0001082) | 2.20524753 |
| 27 | Tubulointerstitial nephritis (HP:0001970) | 2.18673135 |
| 28 | Dyschromatopsia (HP:0007641) | 2.14699799 |
| 29 | Pancreatic fibrosis (HP:0100732) | 2.05051996 |
| 30 | Tubulointerstitial abnormality (HP:0001969) | 2.03847887 |
| 31 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 13.3436961 |
| 32 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 12.3669431 |
| 33 | Absent/shortened dynein arms (HP:0200106) | 12.3669431 |
| 34 | Congenital primary aphakia (HP:0007707) | 1.98889087 |
| 35 | Decreased central vision (HP:0007663) | 1.98139337 |
| 36 | Gait imbalance (HP:0002141) | 1.97809109 |
| 37 | Congenital hepatic fibrosis (HP:0002612) | 1.82519412 |
| 38 | Papillary thyroid carcinoma (HP:0002895) | 1.78371429 |
| 39 | Postaxial foot polydactyly (HP:0001830) | 1.77967622 |
| 40 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.77423233 |
| 41 | Tubulointerstitial fibrosis (HP:0005576) | 1.75061853 |
| 42 | Type 2 muscle fiber atrophy (HP:0003554) | 1.73698505 |
| 43 | Nephrogenic diabetes insipidus (HP:0009806) | 1.69855699 |
| 44 | Congenital malformation of the right heart (HP:0011723) | 1.69633346 |
| 45 | Double outlet right ventricle (HP:0001719) | 1.69633346 |
| 46 | Supernumerary spleens (HP:0009799) | 1.67254358 |
| 47 | Poor coordination (HP:0002370) | 1.66797485 |
| 48 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.63300979 |
| 49 | Microglossia (HP:0000171) | 1.62665957 |
| 50 | Cystic liver disease (HP:0006706) | 1.57421870 |
| 51 | Genital tract atresia (HP:0001827) | 1.57202954 |
| 52 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.57062915 |
| 53 | Tongue fasciculations (HP:0001308) | 1.56606236 |
| 54 | Muscle fiber atrophy (HP:0100295) | 1.55854849 |
| 55 | Postaxial hand polydactyly (HP:0001162) | 1.55572316 |
| 56 | Bile duct proliferation (HP:0001408) | 1.53206707 |
| 57 | Abnormal biliary tract physiology (HP:0012439) | 1.53206707 |
| 58 | True hermaphroditism (HP:0010459) | 1.53204681 |
| 59 | Gonadotropin excess (HP:0000837) | 1.52955301 |
| 60 | Heterotopia (HP:0002282) | 1.52322288 |
| 61 | Pancreatic cysts (HP:0001737) | 1.51968722 |
| 62 | Easy fatigability (HP:0003388) | 1.51488222 |
| 63 | Vaginal atresia (HP:0000148) | 1.51214886 |
| 64 | Fatigable weakness (HP:0003473) | 1.50449517 |
| 65 | Abnormality of the neuromuscular junction (HP:0003398) | 1.50449517 |
| 66 | Abnormal drinking behavior (HP:0030082) | 1.49560242 |
| 67 | Polydipsia (HP:0001959) | 1.49560242 |
| 68 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 1.46265235 |
| 69 | Stage 5 chronic kidney disease (HP:0003774) | 1.45987514 |
| 70 | Bundle branch block (HP:0011710) | 1.44883421 |
| 71 | Oculomotor apraxia (HP:0000657) | 1.44510001 |
| 72 | Short ribs (HP:0000773) | 1.43746149 |
| 73 | Renal dysplasia (HP:0000110) | 1.40957950 |
| 74 | Facial cleft (HP:0002006) | 1.40457050 |
| 75 | Muscle fibrillation (HP:0010546) | 1.40072663 |
| 76 | Abnormality of renal excretion (HP:0011036) | 1.38491978 |
| 77 | Abnormality of the renal cortex (HP:0011035) | 1.36942386 |
| 78 | Spastic tetraparesis (HP:0001285) | 1.36453884 |
| 79 | Abnormality of the dental root (HP:0006486) | 1.32082614 |
| 80 | Taurodontia (HP:0000679) | 1.32082614 |
| 81 | Abnormality of permanent molar morphology (HP:0011071) | 1.32082614 |
| 82 | Choroideremia (HP:0001139) | 1.30431682 |
| 83 | Decreased muscle mass (HP:0003199) | 1.30080407 |
| 84 | Absent epiphyses (HP:0010577) | 1.24363554 |
| 85 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.24363554 |
| 86 | Abnormality of lateral ventricle (HP:0030047) | 1.23982225 |
| 87 | Chronic sinusitis (HP:0011109) | 1.23379490 |
| 88 | Cleft eyelid (HP:0000625) | 1.23061340 |
| 89 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 1.22965433 |
| 90 | Abnormality of the dental pulp (HP:0006479) | 1.22481690 |
| 91 | Asymmetric septal hypertrophy (HP:0001670) | 1.22010198 |
| 92 | Abnormality of saccadic eye movements (HP:0000570) | 1.20789070 |
| 93 | Abnormality of dentin (HP:0010299) | 1.19487036 |
| 94 | Abnormality of molar (HP:0011077) | 1.19231369 |
| 95 | Abnormality of molar morphology (HP:0011070) | 1.19231369 |
| 96 | Sloping forehead (HP:0000340) | 1.18443947 |
| 97 | Constricted visual fields (HP:0001133) | 1.17309249 |
| 98 | Personality changes (HP:0000751) | 1.17047382 |
| 99 | Fibular hypoplasia (HP:0003038) | 1.16523884 |
| 100 | Cerebellar dysplasia (HP:0007033) | 1.15790771 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK4 | 8.02420113 |
| 2 | PDK3 | 8.02420113 |
| 3 | PDK2 | 5.10992380 |
| 4 | TESK1 | 4.80391159 |
| 5 | PRKD3 | 4.42902317 |
| 6 | ICK | 3.60995618 |
| 7 | NEK2 | 1.94137653 |
| 8 | TYRO3 | 1.79659889 |
| 9 | STK38 | 1.79228318 |
| 10 | PTK2B | 1.79218544 |
| 11 | WNK4 | 1.68885719 |
| 12 | MUSK | 1.67552173 |
| 13 | STK39 | 1.65403351 |
| 14 | STK38L | 1.64770044 |
| 15 | PLK4 | 1.61544345 |
| 16 | TTK | 1.56988733 |
| 17 | EEF2K | 1.51136616 |
| 18 | CHEK2 | 1.22664756 |
| 19 | BRAF | 1.17185195 |
| 20 | LATS1 | 1.15372415 |
| 21 | PDK1 | 1.14693433 |
| 22 | DYRK3 | 1.10310444 |
| 23 | MAP3K6 | 1.06554421 |
| 24 | STK3 | 1.05278151 |
| 25 | CDC7 | 1.03148983 |
| 26 | PNCK | 1.03009751 |
| 27 | LATS2 | 0.96863042 |
| 28 | DYRK1B | 0.92373789 |
| 29 | NTRK2 | 0.89242620 |
| 30 | ERBB4 | 0.88748881 |
| 31 | MELK | 0.86692283 |
| 32 | BRSK1 | 0.80554379 |
| 33 | WEE1 | 0.74598274 |
| 34 | PDPK1 | 0.71679541 |
| 35 | PLK1 | 0.68008338 |
| 36 | BRSK2 | 0.67658195 |
| 37 | CCNB1 | 0.67073693 |
| 38 | TESK2 | 0.60243982 |
| 39 | CHEK1 | 0.60076228 |
| 40 | KSR2 | 0.54986411 |
| 41 | PASK | 0.53137316 |
| 42 | MAP2K6 | 0.51111550 |
| 43 | MAPKAPK5 | 0.48245073 |
| 44 | AURKA | 0.46708955 |
| 45 | MAP3K5 | 0.45773745 |
| 46 | IRAK1 | 0.44267473 |
| 47 | MAP3K9 | 0.43975079 |
| 48 | PAK1 | 0.42754283 |
| 49 | PINK1 | 0.41720819 |
| 50 | CDK12 | 0.41045136 |
| 51 | STK10 | 0.39723173 |
| 52 | DYRK2 | 0.39675874 |
| 53 | TAOK1 | 0.37767895 |
| 54 | BUB1 | 0.37613823 |
| 55 | ATM | 0.37611811 |
| 56 | ARAF | 0.35736555 |
| 57 | AURKB | 0.35013720 |
| 58 | ATR | 0.34669809 |
| 59 | WNK1 | 0.33708449 |
| 60 | LMTK2 | 0.32465041 |
| 61 | FGFR2 | 0.32034198 |
| 62 | NEK6 | 0.31909189 |
| 63 | PRKAA1 | 0.29546333 |
| 64 | EIF2AK1 | 0.27600385 |
| 65 | CDK15 | 0.27452286 |
| 66 | CDK18 | 0.26263992 |
| 67 | MAPK15 | 0.26004489 |
| 68 | MAP2K7 | 0.24561506 |
| 69 | PAK6 | 0.24322525 |
| 70 | MAP3K4 | 0.24050284 |
| 71 | MAP3K8 | 0.23824152 |
| 72 | CDK4 | 0.21783401 |
| 73 | MAPKAPK3 | 0.21577938 |
| 74 | CDK11A | 0.21525301 |
| 75 | CDK9 | 0.21373709 |
| 76 | MARK2 | 0.20723372 |
| 77 | ACVR1B | 0.20354019 |
| 78 | RAF1 | 0.20136746 |
| 79 | RIPK4 | 0.20050763 |
| 80 | CDK3 | 0.18635382 |
| 81 | PRKCZ | 0.17274484 |
| 82 | PLK3 | 0.16616785 |
| 83 | PRKCG | 0.16477024 |
| 84 | CDK1 | 0.14968774 |
| 85 | MARK3 | 0.14780937 |
| 86 | RPS6KB1 | 0.14548811 |
| 87 | CDK2 | 0.13959399 |
| 88 | CDK14 | 0.13336089 |
| 89 | SRPK1 | 0.13001366 |
| 90 | RET | 0.11603910 |
| 91 | MTOR | 0.11433129 |
| 92 | RPS6KA1 | 0.11097424 |
| 93 | MOS | 0.09888348 |
| 94 | PDGFRB | 0.09344848 |
| 95 | CDK8 | 0.08538561 |
| 96 | CSNK2A1 | 0.08274280 |
| 97 | MAP3K10 | 0.08077819 |
| 98 | PRKCQ | 0.06428884 |
| 99 | CDK7 | 0.05418285 |
| 100 | TAOK3 | 0.05261302 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 4.85402761 |
| 2 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 4.04201122 |
| 3 | Basal transcription factors_Homo sapiens_hsa03022 | 4.03918359 |
| 4 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 3.72089263 |
| 5 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 3.33842666 |
| 6 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 3.31016068 |
| 7 | Pyruvate metabolism_Homo sapiens_hsa00620 | 3.12781289 |
| 8 | Oocyte meiosis_Homo sapiens_hsa04114 | 2.37505111 |
| 9 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 2.31340457 |
| 10 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 2.21171179 |
| 11 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 2.15931401 |
| 12 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.14836938 |
| 13 | Cell cycle_Homo sapiens_hsa04110 | 1.97001791 |
| 14 | RNA transport_Homo sapiens_hsa03013 | 1.90296964 |
| 15 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.78303675 |
| 16 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.75714229 |
| 17 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.72112714 |
| 18 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.68384921 |
| 19 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.66333793 |
| 20 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.65562011 |
| 21 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.62040859 |
| 22 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 1.59903572 |
| 23 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.57345130 |
| 24 | Purine metabolism_Homo sapiens_hsa00230 | 1.53841757 |
| 25 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 1.53484128 |
| 26 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.52497760 |
| 27 | RNA degradation_Homo sapiens_hsa03018 | 1.46604575 |
| 28 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.38142736 |
| 29 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.27737420 |
| 30 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.23999406 |
| 31 | Mineral absorption_Homo sapiens_hsa04978 | 1.18254615 |
| 32 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 1.17605259 |
| 33 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.16486326 |
| 34 | Homologous recombination_Homo sapiens_hsa03440 | 1.14626037 |
| 35 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 1.13896167 |
| 36 | Carbon metabolism_Homo sapiens_hsa01200 | 1.12664260 |
| 37 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 1.11946975 |
| 38 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.11508458 |
| 39 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.06210545 |
| 40 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.05876368 |
| 41 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.01362823 |
| 42 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.01152251 |
| 43 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.97294306 |
| 44 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.96930360 |
| 45 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.94988709 |
| 46 | Base excision repair_Homo sapiens_hsa03410 | 0.86872709 |
| 47 | DNA replication_Homo sapiens_hsa03030 | 0.84508300 |
| 48 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.83119199 |
| 49 | Huntingtons disease_Homo sapiens_hsa05016 | 0.81266090 |
| 50 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.78974496 |
| 51 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.76506020 |
| 52 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.73071693 |
| 53 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.72565297 |
| 54 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.72116200 |
| 55 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.68468587 |
| 56 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.68451350 |
| 57 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.66166968 |
| 58 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.62072554 |
| 59 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.61284458 |
| 60 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.59617142 |
| 61 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.59559282 |
| 62 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.57646275 |
| 63 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.57419928 |
| 64 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.55030424 |
| 65 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.54609547 |
| 66 | Insulin secretion_Homo sapiens_hsa04911 | 0.48373012 |
| 67 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.48093194 |
| 68 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.46219550 |
| 69 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.46175737 |
| 70 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.45202443 |
| 71 | Long-term potentiation_Homo sapiens_hsa04720 | 0.44715298 |
| 72 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.42605159 |
| 73 | Renin secretion_Homo sapiens_hsa04924 | 0.41900551 |
| 74 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.40376591 |
| 75 | Spliceosome_Homo sapiens_hsa03040 | 0.39581596 |
| 76 | Metabolic pathways_Homo sapiens_hsa01100 | 0.37845283 |
| 77 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.37640162 |
| 78 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.36617525 |
| 79 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.34675532 |
| 80 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.34287381 |
| 81 | RNA polymerase_Homo sapiens_hsa03020 | 0.34028805 |
| 82 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.32595267 |
| 83 | Endocytosis_Homo sapiens_hsa04144 | 0.29955222 |
| 84 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.23459702 |
| 85 | Circadian rhythm_Homo sapiens_hsa04710 | 0.22212118 |
| 86 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.22016602 |
| 87 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.21000793 |
| 88 | Bile secretion_Homo sapiens_hsa04976 | 0.20987679 |
| 89 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.17315893 |
| 90 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.17294778 |
| 91 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.16973939 |
| 92 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.16815344 |
| 93 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.14324316 |
| 94 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.12718529 |
| 95 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.11300297 |
| 96 | Mismatch repair_Homo sapiens_hsa03430 | 0.09792077 |
| 97 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.09041977 |
| 98 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.08946119 |
| 99 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.07539415 |
| 100 | Proteasome_Homo sapiens_hsa03050 | 0.07477726 |

