

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | cell wall macromolecule catabolic process (GO:0016998) | 9.74191328 |
| 2 | cell wall macromolecule metabolic process (GO:0044036) | 9.74191328 |
| 3 | acrosome assembly (GO:0001675) | 9.49392380 |
| 4 | * sperm-egg recognition (GO:0035036) | 9.47674678 |
| 5 | axonemal dynein complex assembly (GO:0070286) | 9.37161145 |
| 6 | acrosome reaction (GO:0007340) | 9.20836611 |
| 7 | plasma membrane fusion (GO:0045026) | 9.20162267 |
| 8 | epithelial cilium movement (GO:0003351) | 8.60923711 |
| 9 | motile cilium assembly (GO:0044458) | 8.52600351 |
| 10 | * reproduction (GO:0000003) | 8.51188341 |
| 11 | * cell-cell recognition (GO:0009988) | 8.44263453 |
| 12 | piRNA metabolic process (GO:0034587) | 8.41499477 |
| 13 | * binding of sperm to zona pellucida (GO:0007339) | 8.39153495 |
| 14 | spermatid development (GO:0007286) | 7.92788993 |
| 15 | male meiosis (GO:0007140) | 7.33531068 |
| 16 | cilium movement (GO:0003341) | 7.32518788 |
| 17 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 7.04086835 |
| 18 | * single fertilization (GO:0007338) | 6.41756575 |
| 19 | synaptonemal complex organization (GO:0070193) | 6.39594488 |
| 20 | regulation of cilium movement (GO:0003352) | 6.12154033 |
| 21 | synaptonemal complex assembly (GO:0007130) | 6.06263737 |
| 22 | sperm capacitation (GO:0048240) | 5.78656531 |
| 23 | * fertilization (GO:0009566) | 5.52968256 |
| 24 | spermatogenesis (GO:0007283) | 5.13706776 |
| 25 | male gamete generation (GO:0048232) | 5.11434314 |
| 26 | DNA methylation involved in gamete generation (GO:0043046) | 4.99329431 |
| 27 | negative regulation of inclusion body assembly (GO:0090084) | 4.93844863 |
| 28 | organic cation transport (GO:0015695) | 4.89706511 |
| 29 | male meiosis I (GO:0007141) | 4.87499960 |
| 30 | gamete generation (GO:0007276) | 4.71522854 |
| 31 | ventricular system development (GO:0021591) | 4.65401658 |
| 32 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.47702452 |
| 33 | germ cell development (GO:0007281) | 4.34724331 |
| 34 | chromosome organization involved in meiosis (GO:0070192) | 4.30672392 |
| 35 | microtubule depolymerization (GO:0007019) | 4.30331736 |
| 36 | cellular response to exogenous dsRNA (GO:0071360) | 4.25181492 |
| 37 | meiotic nuclear division (GO:0007126) | 4.11230201 |
| 38 | calcium ion-dependent exocytosis (GO:0017156) | 4.09434182 |
| 39 | * cell recognition (GO:0008037) | 3.91005619 |
| 40 | regulation of inclusion body assembly (GO:0090083) | 3.86423219 |
| 41 | seminiferous tubule development (GO:0072520) | 3.86167466 |
| 42 | meiotic cell cycle (GO:0051321) | 3.82112171 |
| 43 | meiosis I (GO:0007127) | 3.72179112 |
| 44 | multicellular organismal reproductive process (GO:0048609) | 3.68839615 |
| 45 | spermatid nucleus differentiation (GO:0007289) | 3.51656141 |
| 46 | monoubiquitinated protein deubiquitination (GO:0035520) | 3.38554931 |
| 47 | sexual reproduction (GO:0019953) | 3.32254226 |
| 48 | regulation of microtubule-based movement (GO:0060632) | 3.27353504 |
| 49 | microtubule severing (GO:0051013) | 3.23120727 |
| 50 | response to peptidoglycan (GO:0032494) | 3.20218223 |
| 51 | protein K11-linked deubiquitination (GO:0035871) | 3.19773702 |
| 52 | regulation of podosome assembly (GO:0071801) | 3.19678861 |
| 53 | regulation of activation of Janus kinase activity (GO:0010533) | 3.18586957 |
| 54 | positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725) | 3.16908608 |
| 55 | protein localization to cilium (GO:0061512) | 3.15409216 |
| 56 | left/right pattern formation (GO:0060972) | 3.13077947 |
| 57 | genitalia morphogenesis (GO:0035112) | 3.04870469 |
| 58 | glycerol ether metabolic process (GO:0006662) | 2.98152861 |
| 59 | eosinophil chemotaxis (GO:0048245) | 2.97591918 |
| 60 | multicellular organismal development (GO:0007275) | 2.95915458 |
| 61 | lactate metabolic process (GO:0006089) | 2.95261253 |
| 62 | negative regulation of viral genome replication (GO:0045071) | 2.90390482 |
| 63 | regulation of T-helper 1 cell differentiation (GO:0045625) | 2.86594247 |
| 64 | natural killer cell mediated immunity (GO:0002228) | 2.85813595 |
| 65 | natural killer cell mediated cytotoxicity (GO:0042267) | 2.85813595 |
| 66 | nucleoside diphosphate phosphorylation (GO:0006165) | 2.82917346 |
| 67 | regulation of centriole replication (GO:0046599) | 2.81700283 |
| 68 | positive regulation of mast cell degranulation (GO:0043306) | 2.78657272 |
| 69 | positive regulation of mast cell activation involved in immune response (GO:0033008) | 2.78657272 |
| 70 | regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645) | 2.76629214 |
| 71 | synapsis (GO:0007129) | 2.74672771 |
| 72 | regulation of mononuclear cell migration (GO:0071675) | 2.74229311 |
| 73 | centriole assembly (GO:0098534) | 2.73869064 |
| 74 | ether metabolic process (GO:0018904) | 2.72446166 |
| 75 | centriole replication (GO:0007099) | 2.70477506 |
| 76 | gene silencing by RNA (GO:0031047) | 2.69656441 |
| 77 | positive regulation of heterotypic cell-cell adhesion (GO:0034116) | 2.63519177 |
| 78 | regulation of protein polyubiquitination (GO:1902914) | 2.59803457 |
| 79 | eosinophil migration (GO:0072677) | 2.57874814 |
| 80 | single strand break repair (GO:0000012) | 2.54338122 |
| 81 | polyol catabolic process (GO:0046174) | 2.53499219 |
| 82 | sequestering of actin monomers (GO:0042989) | 2.52980134 |
| 83 | chromosome condensation (GO:0030261) | 2.52789157 |
| 84 | positive regulation of monocyte chemotaxis (GO:0090026) | 2.51891707 |
| 85 | alditol metabolic process (GO:0019400) | 2.50984233 |
| 86 | regulation of chronic inflammatory response (GO:0002676) | 2.50388275 |
| 87 | cellular response to heat (GO:0034605) | 2.49461719 |
| 88 | positive regulation of chemokine biosynthetic process (GO:0045080) | 2.48418560 |
| 89 | protein refolding (GO:0042026) | 2.46597827 |
| 90 | microtubule-based movement (GO:0007018) | 2.45967161 |
| 91 | monocyte chemotaxis (GO:0002548) | 2.44135022 |
| 92 | chaperone-mediated protein complex assembly (GO:0051131) | 2.44085322 |
| 93 | cilium organization (GO:0044782) | 2.41119792 |
| 94 | regulation of RIG-I signaling pathway (GO:0039535) | 2.41072402 |
| 95 | positive regulation of lymphocyte migration (GO:2000403) | 2.40681093 |
| 96 | DNA packaging (GO:0006323) | 2.40473607 |
| 97 | fusion of sperm to egg plasma membrane (GO:0007342) | 12.2433255 |
| 98 | cilium or flagellum-dependent cell motility (GO:0001539) | 12.1103080 |
| 99 | sperm motility (GO:0030317) | 11.0997630 |
| 100 | * multicellular organism reproduction (GO:0032504) | 10.0686857 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 8.40800046 |
| 2 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 4.17620066 |
| 3 | EZH2_22144423_ChIP-Seq_EOC_Human | 3.60134861 |
| 4 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 3.56450443 |
| 5 | IRF8_21731497_ChIP-ChIP_J774_Mouse | 3.27160152 |
| 6 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 3.19890881 |
| 7 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 3.08392109 |
| 8 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.43533027 |
| 9 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.29085717 |
| 10 | IRF1_21803131_ChIP-Seq_MONOCYTES_Human | 2.21635615 |
| 11 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 2.17973490 |
| 12 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 2.04082092 |
| 13 | IRF8_27001747_Chip-Seq_BMDM_Mouse | 2.03078973 |
| 14 | IRF8_22096565_ChIP-ChIP_GC-B_Mouse | 1.96638483 |
| 15 | Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse | 1.88495899 |
| 16 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.86283430 |
| 17 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.79320893 |
| 18 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.77845395 |
| 19 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.63393459 |
| 20 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.57359214 |
| 21 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.55392756 |
| 22 | PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 1.53896260 |
| 23 | PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse | 1.53381753 |
| 24 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.47690017 |
| 25 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.47177721 |
| 26 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 1.41765982 |
| 27 | KDM2B_26808549_Chip-Seq_REH_Human | 1.41313535 |
| 28 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.40584284 |
| 29 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.39166675 |
| 30 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.38914878 |
| 31 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.37807357 |
| 32 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.37757916 |
| 33 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.36689892 |
| 34 | VDR_22108803_ChIP-Seq_LS180_Human | 1.36572300 |
| 35 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.36416634 |
| 36 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.36192312 |
| 37 | P53_22387025_ChIP-Seq_ESCs_Mouse | 1.34392316 |
| 38 | STAT3_20064451_ChIP-Seq_CD4+T_Mouse | 1.33789645 |
| 39 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.33680795 |
| 40 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.32732619 |
| 41 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.31551222 |
| 42 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.31506869 |
| 43 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.30300786 |
| 44 | * OCT4_18555785_Chip-Seq_ESCs_Mouse | 1.29338729 |
| 45 | P300_18555785_Chip-Seq_ESCs_Mouse | 1.28883845 |
| 46 | PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse | 1.28866130 |
| 47 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 1.28087328 |
| 48 | EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 1.27981056 |
| 49 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 1.26355986 |
| 50 | NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse | 1.24783182 |
| 51 | PU1_27457419_Chip-Seq_LIVER_Mouse | 1.23277075 |
| 52 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.22869663 |
| 53 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.22001157 |
| 54 | * STAT3_18555785_Chip-Seq_ESCs_Mouse | 1.19833103 |
| 55 | ESRRB_18555785_Chip-Seq_ESCs_Mouse | 1.19818550 |
| 56 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.19504086 |
| 57 | GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.18169996 |
| 58 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 1.17629404 |
| 59 | GATA3_21867929_ChIP-Seq_TH1_Mouse | 1.17173905 |
| 60 | VDR_24787735_ChIP-Seq_THP-1_Human | 1.16302043 |
| 61 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.16268262 |
| 62 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.15482112 |
| 63 | RUNX1_27457419_Chip-Seq_LIVER_Mouse | 1.15210231 |
| 64 | KLF4_18555785_Chip-Seq_ESCs_Mouse | 1.14589330 |
| 65 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.13159096 |
| 66 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.12518163 |
| 67 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.12518163 |
| 68 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.10624943 |
| 69 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.09953435 |
| 70 | SOX2_18555785_Chip-Seq_ESCs_Mouse | 1.09307641 |
| 71 | E2F1_18555785_Chip-Seq_ESCs_Mouse | 1.09299035 |
| 72 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 1.05135224 |
| 73 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.04294790 |
| 74 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.04131942 |
| 75 | CTCF_18555785_Chip-Seq_ESCs_Mouse | 1.04080377 |
| 76 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.02939272 |
| 77 | LUZP1_20508642_ChIP-Seq_ESCs_Mouse | 1.02917364 |
| 78 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 1.01565604 |
| 79 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.00854345 |
| 80 | ZFX_18555785_Chip-Seq_ESCs_Mouse | 0.99480190 |
| 81 | NMYC_18555785_Chip-Seq_ESCs_Mouse | 0.99307363 |
| 82 | CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.99206757 |
| 83 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 0.99072208 |
| 84 | * SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.99053876 |
| 85 | CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse | 0.98474908 |
| 86 | * SMAD1_18555785_Chip-Seq_ESCs_Mouse | 0.97898015 |
| 87 | CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse | 0.96771315 |
| 88 | SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 0.96607742 |
| 89 | * WDR5_24793694_ChIP-Seq_LNCAP_Human | 0.94155626 |
| 90 | SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse | 0.93576570 |
| 91 | MYC_27129775_Chip-Seq_CORNEA_Mouse | 0.92780196 |
| 92 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 0.91891636 |
| 93 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 0.90880475 |
| 94 | PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 0.90498869 |
| 95 | PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse | 0.90390917 |
| 96 | RCOR2_21632747_ChIP-Seq_MESCs_Mouse | 0.90159193 |
| 97 | RXRA_24833708_ChIP-Seq_LIVER_Mouse | 0.90075695 |
| 98 | SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse | 0.89121392 |
| 99 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 0.89006345 |
| 100 | MYB_21317192_ChIP-Seq_ERMYB_Mouse | 0.88983861 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 4.67837374 |
| 2 | MP0001929_abnormal_gametogenesis | 4.24425167 |
| 3 | MP0006082_CNS_inflammation | 3.78486681 |
| 4 | MP0008877_abnormal_DNA_methylation | 3.21115172 |
| 5 | MP0003436_decreased_susceptibility_to | 3.17922196 |
| 6 | MP0002210_abnormal_sex_determination | 2.96465111 |
| 7 | MP0001835_abnormal_antigen_presentation | 2.82887887 |
| 8 | MP0009785_altered_susceptibility_to | 2.78805665 |
| 9 | MP0002148_abnormal_hypersensitivity_rea | 2.72523119 |
| 10 | MP0002161_abnormal_fertility/fecundity | 2.45188257 |
| 11 | MP0005623_abnormal_meninges_morphology | 2.41090551 |
| 12 | MP0001145_abnormal_male_reproductive | 2.32044521 |
| 13 | MP0005000_abnormal_immune_tolerance | 2.09731553 |
| 14 | MP0000653_abnormal_sex_gland | 2.00490513 |
| 15 | MP0005410_abnormal_fertilization | 12.8609934 |
| 16 | MP0005025_abnormal_response_to | 1.97770035 |
| 17 | MP0002653_abnormal_ependyma_morphology | 1.91111187 |
| 18 | MP0003724_increased_susceptibility_to | 1.89349148 |
| 19 | MP0002419_abnormal_innate_immunity | 1.84236125 |
| 20 | MP0003303_peritoneal_inflammation | 1.81088528 |
| 21 | MP0009278_abnormal_bone_marrow | 1.69169346 |
| 22 | MP0003646_muscle_fatigue | 1.62757697 |
| 23 | MP0009764_decreased_sensitivity_to | 1.59382917 |
| 24 | MP0001533_abnormal_skeleton_physiology | 1.44411734 |
| 25 | MP0008004_abnormal_stomach_pH | 1.41501759 |
| 26 | MP0002723_abnormal_immune_serum | 1.35122583 |
| 27 | MP0003011_delayed_dark_adaptation | 1.30102915 |
| 28 | MP0002452_abnormal_antigen_presenting | 1.28688956 |
| 29 | MP0005387_immune_system_phenotype | 1.17321977 |
| 30 | MP0001790_abnormal_immune_system | 1.17321977 |
| 31 | MP0008469_abnormal_protein_level | 1.16997697 |
| 32 | MP0003690_abnormal_glial_cell | 1.14151315 |
| 33 | MP0008057_abnormal_DNA_replication | 1.14014283 |
| 34 | MP0005671_abnormal_response_to | 1.12770581 |
| 35 | MP0001545_abnormal_hematopoietic_system | 1.12002497 |
| 36 | MP0005397_hematopoietic_system_phenotyp | 1.12002497 |
| 37 | MP0002405_respiratory_system_inflammati | 1.10974928 |
| 38 | MP0002282_abnormal_trachea_morphology | 1.10598533 |
| 39 | MP0002736_abnormal_nociception_after | 1.07398773 |
| 40 | MP0005670_abnormal_white_adipose | 1.07071650 |
| 41 | MP0001800_abnormal_humoral_immune | 1.02524803 |
| 42 | MP0001845_abnormal_inflammatory_respons | 1.02408173 |
| 43 | MP0001819_abnormal_immune_cell | 0.99078331 |
| 44 | MP0002420_abnormal_adaptive_immunity | 0.96692203 |
| 45 | MP0000343_altered_response_to | 0.96166782 |
| 46 | MP0003950_abnormal_plasma_membrane | 0.94124749 |
| 47 | MP0004510_myositis | 0.92692887 |
| 48 | MP0000685_abnormal_immune_system | 0.92250231 |
| 49 | MP0005647_abnormal_sex_gland | 0.90289526 |
| 50 | MP0004947_skin_inflammation | 0.88509116 |
| 51 | MP0002160_abnormal_reproductive_system | 0.85986310 |
| 52 | MP0001765_abnormal_ion_homeostasis | 0.84695103 |
| 53 | MP0003448_altered_tumor_morphology | 0.84496465 |
| 54 | MP0009046_muscle_twitch | 0.83132247 |
| 55 | MP0000604_amyloidosis | 0.79227168 |
| 56 | MP0010386_abnormal_urinary_bladder | 0.79020578 |
| 57 | MP0005535_abnormal_body_temperature | 0.78370804 |
| 58 | MP0002006_tumorigenesis | 0.72077336 |
| 59 | MP0009763_increased_sensitivity_to | 0.71896415 |
| 60 | MP0010155_abnormal_intestine_physiology | 0.70647201 |
| 61 | MP0002998_abnormal_bone_remodeling | 0.70436857 |
| 62 | MP0005464_abnormal_platelet_physiology | 0.68197132 |
| 63 | MP0000716_abnormal_immune_system | 0.64841179 |
| 64 | MP0001968_abnormal_touch/_nociception | 0.64508712 |
| 65 | MP0010307_abnormal_tumor_latency | 0.64500394 |
| 66 | MP0004808_abnormal_hematopoietic_stem | 0.62725786 |
| 67 | MP0005390_skeleton_phenotype | 0.61225781 |
| 68 | MP0009115_abnormal_fat_cell | 0.61124581 |
| 69 | MP0001851_eye_inflammation | 0.60426197 |
| 70 | MP0005166_decreased_susceptibility_to | 0.59974066 |
| 71 | MP0003045_fibrosis | 0.59500788 |
| 72 | MP0005164_abnormal_response_to | 0.59224699 |
| 73 | MP0003191_abnormal_cellular_cholesterol | 0.58224667 |
| 74 | MP0004782_abnormal_surfactant_physiolog | 0.58081672 |
| 75 | MP0000858_altered_metastatic_potential | 0.56157541 |
| 76 | MP0005167_abnormal_blood-brain_barrier | 0.56110167 |
| 77 | MP0003075_altered_response_to | 0.55678129 |
| 78 | MP0001119_abnormal_female_reproductive | 0.54290346 |
| 79 | MP0004019_abnormal_vitamin_homeostasis | 0.54215329 |
| 80 | MP0002928_abnormal_bile_duct | 0.52537966 |
| 81 | MP0002398_abnormal_bone_marrow | 0.51543467 |
| 82 | MP0002138_abnormal_hepatobiliary_system | 0.51469980 |
| 83 | MP0002693_abnormal_pancreas_physiology | 0.50687153 |
| 84 | MP0010352_gastrointestinal_tract_polyps | 0.49710541 |
| 85 | MP0005058_abnormal_lysosome_morphology | 0.49624328 |
| 86 | MP0001853_heart_inflammation | 0.48114589 |
| 87 | MP0005666_abnormal_adipose_tissue | 0.46396100 |
| 88 | MP0001663_abnormal_digestive_system | 0.44924366 |
| 89 | MP0005389_reproductive_system_phenotype | 0.44359480 |
| 90 | MP0002429_abnormal_blood_cell | 0.43982274 |
| 91 | MP0005636_abnormal_mineral_homeostasis | 0.40367408 |
| 92 | MP0005310_abnormal_salivary_gland | 0.39341870 |
| 93 | MP0005076_abnormal_cell_differentiation | 0.39194188 |
| 94 | MP0000249_abnormal_blood_vessel | 0.39165211 |
| 95 | MP0001764_abnormal_homeostasis | 0.38589102 |
| 96 | MP0003172_abnormal_lysosome_physiology | 0.38348303 |
| 97 | MP0005451_abnormal_body_composition | 0.37204317 |
| 98 | MP0009765_abnormal_xenobiotic_induced | 0.36568242 |
| 99 | MP0002971_abnormal_brown_adipose | 0.36366598 |
| 100 | MP0008058_abnormal_DNA_repair | 0.34542765 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal respiratory motile cilium physiology (HP:0012261) | 8.63928988 |
| 2 | Abnormal respiratory motile cilium morphology (HP:0005938) | 8.29448437 |
| 3 | Abnormal respiratory epithelium morphology (HP:0012253) | 8.29448437 |
| 4 | Rhinitis (HP:0012384) | 7.22087114 |
| 5 | Abnormal ciliary motility (HP:0012262) | 6.97544434 |
| 6 | Nasal polyposis (HP:0100582) | 6.87321693 |
| 7 | Chronic bronchitis (HP:0004469) | 6.57954917 |
| 8 | Abnormality of the nasal mucosa (HP:0000433) | 5.68155798 |
| 9 | Infertility (HP:0000789) | 5.64477346 |
| 10 | Bronchiectasis (HP:0002110) | 4.61050012 |
| 11 | Bronchitis (HP:0012387) | 4.48765536 |
| 12 | Nephronophthisis (HP:0000090) | 3.86767539 |
| 13 | Recurrent sinusitis (HP:0011108) | 3.55134531 |
| 14 | Recurrent otitis media (HP:0000403) | 3.16678939 |
| 15 | Recurrent bronchitis (HP:0002837) | 3.09305949 |
| 16 | Abnormality of the renal medulla (HP:0100957) | 3.06575211 |
| 17 | Male infertility (HP:0003251) | 3.01646009 |
| 18 | Tubular atrophy (HP:0000092) | 2.89726844 |
| 19 | Absent frontal sinuses (HP:0002688) | 2.77839370 |
| 20 | Tubulointerstitial nephritis (HP:0001970) | 2.67387412 |
| 21 | Dyschromatopsia (HP:0007641) | 2.67148063 |
| 22 | Tubulointerstitial abnormality (HP:0001969) | 2.64435310 |
| 23 | Abnormal spermatogenesis (HP:0008669) | 2.59930106 |
| 24 | Aplasia/Hypoplasia of the frontal sinuses (HP:0009119) | 2.47037258 |
| 25 | Chronic sinusitis (HP:0011109) | 2.43814710 |
| 26 | Tubulointerstitial fibrosis (HP:0005576) | 2.39801278 |
| 27 | Molar tooth sign on MRI (HP:0002419) | 2.32451386 |
| 28 | Abnormality of midbrain morphology (HP:0002418) | 2.32451386 |
| 29 | Eczematoid dermatitis (HP:0000976) | 2.31000704 |
| 30 | Recurrent gram-negative bacterial infections (HP:0005420) | 2.26572341 |
| 31 | Spastic tetraparesis (HP:0001285) | 2.16490723 |
| 32 | Abnormality of the lower motor neuron (HP:0002366) | 2.10806034 |
| 33 | Azoospermia (HP:0000027) | 2.06936975 |
| 34 | Abnormality of the frontal sinuses (HP:0002687) | 2.05427147 |
| 35 | Gonadotropin excess (HP:0000837) | 2.04267820 |
| 36 | Upper motor neuron abnormality (HP:0002127) | 2.03289491 |
| 37 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 12.3184005 |
| 38 | Absent/shortened dynein arms (HP:0200106) | 11.8837628 |
| 39 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 11.8837628 |
| 40 | Medial flaring of the eyebrow (HP:0010747) | 1.99626238 |
| 41 | Optic neuritis (HP:0100653) | 1.98706622 |
| 42 | Retrobulbar optic neuritis (HP:0100654) | 1.98706622 |
| 43 | Deformed sella turcica (HP:0002681) | 1.96813033 |
| 44 | Aplasia/Hypoplasia involving the sinuses (HP:0009120) | 1.91642354 |
| 45 | Abnormality of the renal cortex (HP:0011035) | 1.89022969 |
| 46 | Autoimmune thrombocytopenia (HP:0001973) | 1.88618700 |
| 47 | Stomatitis (HP:0010280) | 1.87127887 |
| 48 | Amyotrophic lateral sclerosis (HP:0007354) | 1.86135896 |
| 49 | Stage 5 chronic kidney disease (HP:0003774) | 1.85837608 |
| 50 | Recurrent abscess formation (HP:0002722) | 1.83414759 |
| 51 | Orchitis (HP:0100796) | 1.79067627 |
| 52 | J-shaped sella turcica (HP:0002680) | 1.77806455 |
| 53 | Impulsivity (HP:0100710) | 1.76072655 |
| 54 | Postaxial foot polydactyly (HP:0001830) | 1.73884035 |
| 55 | Chronic otitis media (HP:0000389) | 1.73831021 |
| 56 | Congenital hepatic fibrosis (HP:0002612) | 1.70495395 |
| 57 | Abnormality of the dental root (HP:0006486) | 1.70320879 |
| 58 | Taurodontia (HP:0000679) | 1.70320879 |
| 59 | Abnormality of permanent molar morphology (HP:0011071) | 1.70320879 |
| 60 | Fibular hypoplasia (HP:0003038) | 1.67748422 |
| 61 | Abnormal drinking behavior (HP:0030082) | 1.67145797 |
| 62 | Polydipsia (HP:0001959) | 1.67145797 |
| 63 | Abnormality of molar (HP:0011077) | 1.62790158 |
| 64 | Abnormality of molar morphology (HP:0011070) | 1.62790158 |
| 65 | Vascular calcification (HP:0004934) | 1.60504777 |
| 66 | Constricted visual fields (HP:0001133) | 1.57902780 |
| 67 | Hyperphosphatemia (HP:0002905) | 1.57438506 |
| 68 | Abnormality of dentin (HP:0010299) | 1.57231109 |
| 69 | Degeneration of anterior horn cells (HP:0002398) | 1.57187647 |
| 70 | Abnormality of the anterior horn cell (HP:0006802) | 1.57187647 |
| 71 | Recurrent bacterial skin infections (HP:0005406) | 1.55437673 |
| 72 | Impaired proprioception (HP:0010831) | 1.54996556 |
| 73 | Abnormality of the dental pulp (HP:0006479) | 1.54857702 |
| 74 | Oculomotor apraxia (HP:0000657) | 1.53675259 |
| 75 | Hemorrhage of the eye (HP:0011885) | 1.53641079 |
| 76 | Abnormality of renal excretion (HP:0011036) | 1.53426001 |
| 77 | Prostate neoplasm (HP:0100787) | 1.47585843 |
| 78 | Hypergammaglobulinemia (HP:0010702) | 1.46138613 |
| 79 | Cardiovascular calcification (HP:0011915) | 1.44125745 |
| 80 | Myositis (HP:0100614) | 1.41975516 |
| 81 | Interstitial pulmonary disease (HP:0006530) | 1.41971532 |
| 82 | Systemic lupus erythematosus (HP:0002725) | 1.41469508 |
| 83 | Disinhibition (HP:0000734) | 1.41046203 |
| 84 | Hemiparesis (HP:0001269) | 1.39485569 |
| 85 | Mediastinal lymphadenopathy (HP:0100721) | 1.39330455 |
| 86 | Nephropathy (HP:0000112) | 1.39198865 |
| 87 | Choroideremia (HP:0001139) | 1.38422696 |
| 88 | Renal dysplasia (HP:0000110) | 1.36184786 |
| 89 | Microglossia (HP:0000171) | 1.36084656 |
| 90 | Short thorax (HP:0010306) | 1.34081285 |
| 91 | Short ribs (HP:0000773) | 1.33265291 |
| 92 | Abnormality of the sella turcica (HP:0002679) | 1.32408208 |
| 93 | Short nail (HP:0001799) | 1.32162944 |
| 94 | Central scotoma (HP:0000603) | 1.30060788 |
| 95 | Gingivitis (HP:0000230) | 1.29405887 |
| 96 | Decreased central vision (HP:0007663) | 1.29190751 |
| 97 | Median cleft lip (HP:0000161) | 1.25480890 |
| 98 | Porencephaly (HP:0002132) | 1.25249001 |
| 99 | Short femoral neck (HP:0100864) | 1.24380551 |
| 100 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.24170645 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK3 | 8.17423392 |
| 2 | PDK4 | 8.17423392 |
| 3 | PDK2 | 5.74171662 |
| 4 | TESK1 | 4.31757765 |
| 5 | PRKD3 | 3.10647682 |
| 6 | ICK | 2.59776851 |
| 7 | PBK | 2.15367055 |
| 8 | PTK2B | 2.14989167 |
| 9 | WNK4 | 2.10839402 |
| 10 | ERN1 | 2.06723417 |
| 11 | STK39 | 2.05473357 |
| 12 | EPHB1 | 1.78373745 |
| 13 | RIPK4 | 1.61849850 |
| 14 | MUSK | 1.56457790 |
| 15 | MAP3K14 | 1.56361290 |
| 16 | PNCK | 1.55206101 |
| 17 | IRAK1 | 1.50660604 |
| 18 | TBK1 | 1.34058674 |
| 19 | NEK2 | 1.20918120 |
| 20 | WNK1 | 1.16794248 |
| 21 | STK3 | 1.14977171 |
| 22 | EPHA3 | 1.09600936 |
| 23 | MAPK15 | 1.09197913 |
| 24 | TXK | 0.99767247 |
| 25 | STK38 | 0.93379902 |
| 26 | PDK1 | 0.92909969 |
| 27 | IKBKE | 0.92551916 |
| 28 | CDK12 | 0.89845246 |
| 29 | DYRK1B | 0.89351804 |
| 30 | TYK2 | 0.84940712 |
| 31 | CSK | 0.83241702 |
| 32 | BMPR1B | 0.80960338 |
| 33 | MST4 | 0.76882692 |
| 34 | PLK4 | 0.72908007 |
| 35 | MATK | 0.70751531 |
| 36 | BLK | 0.67827685 |
| 37 | IKBKB | 0.61903106 |
| 38 | ZAP70 | 0.60968865 |
| 39 | JAK3 | 0.60546665 |
| 40 | JAK1 | 0.54796150 |
| 41 | FGFR4 | 0.53929093 |
| 42 | BMPR2 | 0.49113486 |
| 43 | NEK9 | 0.48215165 |
| 44 | PRKCQ | 0.47850559 |
| 45 | IRAK2 | 0.44162291 |
| 46 | MAP4K1 | 0.43384172 |
| 47 | MAP2K6 | 0.42185216 |
| 48 | ADRBK2 | 0.39312662 |
| 49 | YES1 | 0.39026537 |
| 50 | MAP3K5 | 0.38075977 |
| 51 | PDPK1 | 0.37042373 |
| 52 | RIPK1 | 0.35972204 |
| 53 | PINK1 | 0.34563228 |
| 54 | TYRO3 | 0.33035645 |
| 55 | LMTK2 | 0.32930210 |
| 56 | ABL2 | 0.32526602 |
| 57 | NLK | 0.30325153 |
| 58 | PIM1 | 0.30027342 |
| 59 | CLK1 | 0.29814754 |
| 60 | EIF2AK2 | 0.29565363 |
| 61 | BMX | 0.29251842 |
| 62 | MAP3K13 | 0.27381147 |
| 63 | IRAK4 | 0.27362795 |
| 64 | GRK7 | 0.26990055 |
| 65 | STK4 | 0.26759545 |
| 66 | PRKCD | 0.25875823 |
| 67 | NEK6 | 0.25549201 |
| 68 | CHUK | 0.24797284 |
| 69 | HCK | 0.24621429 |
| 70 | MST1R | 0.24194116 |
| 71 | TGFBR2 | 0.23182629 |
| 72 | WEE1 | 0.23165960 |
| 73 | FGFR3 | 0.21556854 |
| 74 | LYN | 0.20454899 |
| 75 | ATR | 0.20173443 |
| 76 | MAP3K1 | 0.20008265 |
| 77 | TESK2 | 0.19898620 |
| 78 | PRKCG | 0.19831304 |
| 79 | FGR | 0.18172971 |
| 80 | PASK | 0.16253412 |
| 81 | LCK | 0.14635986 |
| 82 | SYK | 0.14081298 |
| 83 | STK10 | 0.13928066 |
| 84 | GRK1 | 0.13182314 |
| 85 | PAK1 | 0.11933620 |
| 86 | PIM2 | 0.11500026 |
| 87 | ERBB4 | 0.10759500 |
| 88 | TTK | 0.10515355 |
| 89 | ABL1 | 0.10269272 |
| 90 | ATM | 0.09957553 |
| 91 | CHEK1 | 0.09686479 |
| 92 | PRKG1 | 0.09578197 |
| 93 | EGFR | 0.09345174 |
| 94 | CHEK2 | 0.08831322 |
| 95 | JAK2 | 0.08199144 |
| 96 | CSF1R | 0.08197613 |
| 97 | NTRK1 | 0.06965674 |
| 98 | PRKACG | 0.06213470 |
| 99 | PRKG2 | 0.06077960 |
| 100 | DDR2 | 0.04945098 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Graft-versus-host disease_Homo sapiens_hsa05332 | 4.51281014 |
| 2 | Legionellosis_Homo sapiens_hsa05134 | 3.51478670 |
| 3 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 2.77346406 |
| 4 | Allograft rejection_Homo sapiens_hsa05330 | 2.50975612 |
| 5 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 2.44298942 |
| 6 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 2.44153770 |
| 7 | Toll-like receptor signaling pathway_Homo sapiens_hsa04620 | 2.42958948 |
| 8 | Salmonella infection_Homo sapiens_hsa05132 | 2.35030610 |
| 9 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 2.33517867 |
| 10 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 2.28466844 |
| 11 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 2.22215639 |
| 12 | Malaria_Homo sapiens_hsa05144 | 2.15887955 |
| 13 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 2.14785663 |
| 14 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 2.12377862 |
| 15 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 2.00359285 |
| 16 | RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622 | 1.97138139 |
| 17 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 1.92535644 |
| 18 | Leishmaniasis_Homo sapiens_hsa05140 | 1.82838794 |
| 19 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 1.77277974 |
| 20 | Influenza A_Homo sapiens_hsa05164 | 1.71130738 |
| 21 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.69725899 |
| 22 | Measles_Homo sapiens_hsa05162 | 1.69644933 |
| 23 | Asthma_Homo sapiens_hsa05310 | 1.69243716 |
| 24 | African trypanosomiasis_Homo sapiens_hsa05143 | 1.69183461 |
| 25 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.66287303 |
| 26 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.55891796 |
| 27 | TNF signaling pathway_Homo sapiens_hsa04668 | 1.55659879 |
| 28 | Tuberculosis_Homo sapiens_hsa05152 | 1.54351204 |
| 29 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.54261748 |
| 30 | Pertussis_Homo sapiens_hsa05133 | 1.54085995 |
| 31 | Osteoclast differentiation_Homo sapiens_hsa04380 | 1.52229188 |
| 32 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.31930809 |
| 33 | Herpes simplex infection_Homo sapiens_hsa05168 | 1.28079819 |
| 34 | Mineral absorption_Homo sapiens_hsa04978 | 1.27643246 |
| 35 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.27325975 |
| 36 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.26808384 |
| 37 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 1.24688066 |
| 38 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.23259031 |
| 39 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 1.19559701 |
| 40 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.19157757 |
| 41 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.10373389 |
| 42 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 1.09714497 |
| 43 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 1.08290369 |
| 44 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.02984829 |
| 45 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.02115391 |
| 46 | Prion diseases_Homo sapiens_hsa05020 | 0.99773972 |
| 47 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.93111223 |
| 48 | Phagosome_Homo sapiens_hsa04145 | 0.93004465 |
| 49 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.87791988 |
| 50 | Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650 | 0.84858064 |
| 51 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.79491129 |
| 52 | Huntingtons disease_Homo sapiens_hsa05016 | 0.77968954 |
| 53 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.77386314 |
| 54 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.77232841 |
| 55 | Basal transcription factors_Homo sapiens_hsa03022 | 0.76726366 |
| 56 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 0.76504965 |
| 57 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.75189446 |
| 58 | Chagas disease (American trypanosomiasis)_Homo sapiens_hsa05142 | 0.74750613 |
| 59 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.74144784 |
| 60 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.72340177 |
| 61 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.68852648 |
| 62 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.68427667 |
| 63 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.60664194 |
| 64 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.59127309 |
| 65 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.58526338 |
| 66 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.56924779 |
| 67 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.54472848 |
| 68 | ABC transporters_Homo sapiens_hsa02010 | 0.53941173 |
| 69 | Viral myocarditis_Homo sapiens_hsa05416 | 0.53452645 |
| 70 | Chemokine signaling pathway_Homo sapiens_hsa04062 | 0.53192860 |
| 71 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.51510977 |
| 72 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.49919879 |
| 73 | Amoebiasis_Homo sapiens_hsa05146 | 0.47904488 |
| 74 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.46833136 |
| 75 | Renin secretion_Homo sapiens_hsa04924 | 0.45725587 |
| 76 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 0.44642142 |
| 77 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.43442520 |
| 78 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.42883516 |
| 79 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.41643871 |
| 80 | Hepatitis B_Homo sapiens_hsa05161 | 0.41213560 |
| 81 | Hepatitis C_Homo sapiens_hsa05160 | 0.35509291 |
| 82 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.35412049 |
| 83 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.33295675 |
| 84 | T cell receptor signaling pathway_Homo sapiens_hsa04660 | 0.32947931 |
| 85 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.25436077 |
| 86 | Shigellosis_Homo sapiens_hsa05131 | 0.24532727 |
| 87 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.23847802 |
| 88 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.23813499 |
| 89 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.23263623 |
| 90 | Lysosome_Homo sapiens_hsa04142 | 0.21941659 |
| 91 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.19183495 |
| 92 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.18384482 |
| 93 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.17596569 |
| 94 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.16701016 |
| 95 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.13530780 |
| 96 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.13460632 |
| 97 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.11869488 |
| 98 | Other glycan degradation_Homo sapiens_hsa00511 | 0.10744801 |
| 99 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.09289501 |
| 100 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.09133561 |

