

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | spermatid development (GO:0007286) | 9.92344742 |
| 2 | axonemal dynein complex assembly (GO:0070286) | 9.81674814 |
| 3 | reproduction (GO:0000003) | 9.39390326 |
| 4 | motile cilium assembly (GO:0044458) | 9.17030020 |
| 5 | regulation of cilium movement (GO:0003352) | 8.75202195 |
| 6 | cilium or flagellum-dependent cell motility (GO:0001539) | 8.50211585 |
| 7 | cilium movement (GO:0003341) | 8.07761413 |
| 8 | single fertilization (GO:0007338) | 7.40033204 |
| 9 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 7.35756642 |
| 10 | sperm capacitation (GO:0048240) | 7.24462102 |
| 11 | negative regulation of inclusion body assembly (GO:0090084) | 7.17045795 |
| 12 | synaptonemal complex organization (GO:0070193) | 6.93942780 |
| 13 | spermatogenesis (GO:0007283) | 6.87497039 |
| 14 | male gamete generation (GO:0048232) | 6.84965480 |
| 15 | synaptonemal complex assembly (GO:0007130) | 6.82507109 |
| 16 | organic cation transport (GO:0015695) | 6.72193064 |
| 17 | male meiosis (GO:0007140) | 6.69444238 |
| 18 | microtubule depolymerization (GO:0007019) | 6.46468737 |
| 19 | piRNA metabolic process (GO:0034587) | 6.41710366 |
| 20 | fertilization (GO:0009566) | 6.30618161 |
| 21 | gamete generation (GO:0007276) | 6.29738390 |
| 22 | regulation of inclusion body assembly (GO:0090083) | 6.06511021 |
| 23 | calcium ion-dependent exocytosis (GO:0017156) | 5.70942582 |
| 24 | germ cell development (GO:0007281) | 5.50198390 |
| 25 | chromosome condensation (GO:0030261) | 5.43392075 |
| 26 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 5.42746387 |
| 27 | glycerol ether metabolic process (GO:0006662) | 5.40087572 |
| 28 | spermatid nucleus differentiation (GO:0007289) | 5.37900399 |
| 29 | regulation of microtubule-based movement (GO:0060632) | 5.23734948 |
| 30 | ventricular system development (GO:0021591) | 5.21181295 |
| 31 | DNA packaging (GO:0006323) | 5.13674040 |
| 32 | cell recognition (GO:0008037) | 5.06116194 |
| 33 | ether metabolic process (GO:0018904) | 4.99285056 |
| 34 | multicellular organismal reproductive process (GO:0048609) | 4.95907424 |
| 35 | sexual reproduction (GO:0019953) | 4.81307620 |
| 36 | microtubule severing (GO:0051013) | 4.64813030 |
| 37 | male meiosis I (GO:0007141) | 4.64784386 |
| 38 | chromosome organization involved in meiosis (GO:0070192) | 4.61748953 |
| 39 | seminiferous tubule development (GO:0072520) | 4.57160060 |
| 40 | single strand break repair (GO:0000012) | 4.53804623 |
| 41 | left/right pattern formation (GO:0060972) | 4.30042980 |
| 42 | DNA methylation involved in gamete generation (GO:0043046) | 4.20187534 |
| 43 | chaperone-mediated protein complex assembly (GO:0051131) | 4.16111937 |
| 44 | sequestering of actin monomers (GO:0042989) | 4.12182556 |
| 45 | meiotic nuclear division (GO:0007126) | 4.04109714 |
| 46 | multicellular organismal development (GO:0007275) | 3.96634181 |
| 47 | genitalia morphogenesis (GO:0035112) | 3.78312513 |
| 48 | meiosis I (GO:0007127) | 3.69605766 |
| 49 | protein K11-linked deubiquitination (GO:0035871) | 3.60847932 |
| 50 | protein polyglutamylation (GO:0018095) | 3.46009217 |
| 51 | microtubule polymerization or depolymerization (GO:0031109) | 3.35843528 |
| 52 | regulation of spindle checkpoint (GO:0090231) | 3.30383690 |
| 53 | glycolytic process (GO:0006096) | 3.29877600 |
| 54 | protein refolding (GO:0042026) | 3.29461388 |
| 55 | monoubiquitinated protein deubiquitination (GO:0035520) | 3.22020430 |
| 56 | meiotic cell cycle (GO:0051321) | 3.16653308 |
| 57 | nucleus organization (GO:0006997) | 3.12560582 |
| 58 | nucleoside diphosphate phosphorylation (GO:0006165) | 3.08670655 |
| 59 | protein localization to cilium (GO:0061512) | 3.05565546 |
| 60 | amino-acid betaine transport (GO:0015838) | 3.04418524 |
| 61 | carnitine transport (GO:0015879) | 3.04418524 |
| 62 | positive regulation of macrophage activation (GO:0043032) | 3.02575830 |
| 63 | interferon-gamma secretion (GO:0072643) | 2.98626605 |
| 64 | RNA localization (GO:0006403) | 2.95745968 |
| 65 | GTP biosynthetic process (GO:0006183) | 2.95397936 |
| 66 | polyol catabolic process (GO:0046174) | 2.93662985 |
| 67 | polyamine biosynthetic process (GO:0006596) | 2.90607371 |
| 68 | carnitine transmembrane transport (GO:1902603) | 2.85944809 |
| 69 | RNA destabilization (GO:0050779) | 2.83903330 |
| 70 | alditol metabolic process (GO:0019400) | 2.82605133 |
| 71 | mitotic sister chromatid cohesion (GO:0007064) | 2.80807880 |
| 72 | chromatin silencing (GO:0006342) | 2.80503302 |
| 73 | cilium organization (GO:0044782) | 2.72162905 |
| 74 | meiotic cell cycle process (GO:1903046) | 2.71101416 |
| 75 | microtubule-based movement (GO:0007018) | 2.69475701 |
| 76 | synapsis (GO:0007129) | 2.68252731 |
| 77 | regulation of cilium assembly (GO:1902017) | 2.67432284 |
| 78 | lactate metabolic process (GO:0006089) | 2.66329908 |
| 79 | UTP biosynthetic process (GO:0006228) | 2.63699835 |
| 80 | cellular component assembly involved in morphogenesis (GO:0010927) | 2.61156455 |
| 81 | cilium assembly (GO:0042384) | 2.60901307 |
| 82 | intraciliary transport (GO:0042073) | 2.59372967 |
| 83 | cilium morphogenesis (GO:0060271) | 2.58588063 |
| 84 | negative regulation of organelle assembly (GO:1902116) | 2.58172506 |
| 85 | axoneme assembly (GO:0035082) | 2.56430786 |
| 86 | peptidyl-glutamic acid modification (GO:0018200) | 2.42476167 |
| 87 | mitochondrion degradation (GO:0000422) | 2.42412168 |
| 88 | UTP metabolic process (GO:0046051) | 2.41145570 |
| 89 | sperm motility (GO:0030317) | 14.4712825 |
| 90 | cell wall macromolecule metabolic process (GO:0044036) | 13.4223607 |
| 91 | cell wall macromolecule catabolic process (GO:0016998) | 13.4223607 |
| 92 | fusion of sperm to egg plasma membrane (GO:0007342) | 13.3292828 |
| 93 | acrosome reaction (GO:0007340) | 12.4859432 |
| 94 | sperm-egg recognition (GO:0035036) | 11.6085560 |
| 95 | acrosome assembly (GO:0001675) | 11.6062690 |
| 96 | multicellular organism reproduction (GO:0032504) | 10.7027109 |
| 97 | binding of sperm to zona pellucida (GO:0007339) | 10.6645424 |
| 98 | cell-cell recognition (GO:0009988) | 10.3847206 |
| 99 | plasma membrane fusion (GO:0045026) | 10.1420301 |
| 100 | epithelial cilium movement (GO:0003351) | 10.1025804 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 9.08691351 |
| 2 | EZH2_22144423_ChIP-Seq_EOC_Human | 4.44753702 |
| 3 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 3.76768070 |
| 4 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 3.13527479 |
| 5 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.88690384 |
| 6 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.81833202 |
| 7 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 2.51613402 |
| 8 | VDR_22108803_ChIP-Seq_LS180_Human | 2.46409453 |
| 9 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 2.20346330 |
| 10 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 2.17100616 |
| 11 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 2.07363665 |
| 12 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.06213925 |
| 13 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.99090761 |
| 14 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.88815121 |
| 15 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 1.82548168 |
| 16 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.75021698 |
| 17 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.73946819 |
| 18 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.73537413 |
| 19 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.70077536 |
| 20 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.69524600 |
| 21 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.66807654 |
| 22 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.66243409 |
| 23 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.57214473 |
| 24 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.55133098 |
| 25 | GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.54860406 |
| 26 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 1.54129102 |
| 27 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.52859219 |
| 28 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.48139914 |
| 29 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.44484571 |
| 30 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 1.43158788 |
| 31 | KDM2B_26808549_Chip-Seq_REH_Human | 1.42519943 |
| 32 | FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.41402185 |
| 33 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.39469073 |
| 34 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.37119969 |
| 35 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.37119969 |
| 36 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.35415904 |
| 37 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.35163288 |
| 38 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.32856637 |
| 39 | LUZP1_20508642_ChIP-Seq_ESCs_Mouse | 1.32784730 |
| 40 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 1.31061931 |
| 41 | GATA3_21867929_ChIP-Seq_TH1_Mouse | 1.26562809 |
| 42 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.22749913 |
| 43 | PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 1.22382728 |
| 44 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 1.22005437 |
| 45 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.21946504 |
| 46 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.21599856 |
| 47 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.21419007 |
| 48 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.21419007 |
| 49 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.20550025 |
| 50 | SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.19027551 |
| 51 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.18547251 |
| 52 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.18495549 |
| 53 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.18477289 |
| 54 | CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.18467246 |
| 55 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.18418822 |
| 56 | CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.16656007 |
| 57 | SPI1_26923725_Chip-Seq_HPCs_Mouse | 1.15317169 |
| 58 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.13974564 |
| 59 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 1.12791263 |
| 60 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.11230060 |
| 61 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 1.09783277 |
| 62 | RXRA_24833708_ChIP-Seq_LIVER_Mouse | 1.08333530 |
| 63 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.08255676 |
| 64 | MYC_27129775_Chip-Seq_CORNEA_Mouse | 1.08001700 |
| 65 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.07600132 |
| 66 | RCOR3_21632747_ChIP-Seq_MESCs_Mouse | 1.06924797 |
| 67 | ESET_19884257_ChIP-Seq_ESCs_Mouse | 1.06045562 |
| 68 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.05866195 |
| 69 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.05391060 |
| 70 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.05079506 |
| 71 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 1.04850124 |
| 72 | GATA1_19941827_ChIP-Seq_MEL86_Mouse | 1.04137874 |
| 73 | JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse | 1.03741085 |
| 74 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.03666412 |
| 75 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.03156744 |
| 76 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.02892500 |
| 77 | RARA_24833708_ChIP-Seq_LIVER_Mouse | 1.02758547 |
| 78 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.02673071 |
| 79 | PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 1.02184994 |
| 80 | CTCF_20526341_ChIP-Seq_ESCs_Human | 0.98908175 |
| 81 | PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse | 0.98446239 |
| 82 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.98022640 |
| 83 | SOX11_22085726_ChIP-Seq_ESNs_Mouse | 0.97677796 |
| 84 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 0.97064504 |
| 85 | SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 0.96539869 |
| 86 | NFYB_21822215_ChIP-Seq_K562_Human | 0.96304630 |
| 87 | LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse | 0.95363392 |
| 88 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 0.94933578 |
| 89 | FLI1_21867929_ChIP-Seq_CD8_Mouse | 0.94923379 |
| 90 | OCT4_18555785_Chip-Seq_ESCs_Mouse | 0.94833525 |
| 91 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 0.93922187 |
| 92 | P53_22387025_ChIP-Seq_ESCs_Mouse | 0.93172726 |
| 93 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 0.91825419 |
| 94 | SOX9_26525672_Chip-Seq_HEART_Mouse | 0.91439007 |
| 95 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 0.91097152 |
| 96 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 0.90386920 |
| 97 | RNF2_27304074_Chip-Seq_NSC_Mouse | 0.89896199 |
| 98 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 0.89405986 |
| 99 | SRY_22984422_ChIP-ChIP_TESTIS_Rat | 0.89115455 |
| 100 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 0.88086118 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 6.07010170 |
| 2 | MP0001929_abnormal_gametogenesis | 5.54179515 |
| 3 | MP0008877_abnormal_DNA_methylation | 3.79010355 |
| 4 | MP0002161_abnormal_fertility/fecundity | 3.32591695 |
| 5 | MP0002210_abnormal_sex_determination | 3.28047135 |
| 6 | MP0005670_abnormal_white_adipose | 2.86779570 |
| 7 | MP0001145_abnormal_male_reproductive | 2.82299890 |
| 8 | MP0000653_abnormal_sex_gland | 2.43125417 |
| 9 | MP0002653_abnormal_ependyma_morphology | 2.10876812 |
| 10 | MP0005410_abnormal_fertilization | 16.7191518 |
| 11 | MP0002160_abnormal_reproductive_system | 1.57507138 |
| 12 | MP0004233_abnormal_muscle_weight | 1.54771752 |
| 13 | MP0003646_muscle_fatigue | 1.50600309 |
| 14 | MP0005623_abnormal_meninges_morphology | 1.42870150 |
| 15 | MP0002282_abnormal_trachea_morphology | 1.24631386 |
| 16 | MP0001765_abnormal_ion_homeostasis | 1.11932139 |
| 17 | MP0001984_abnormal_olfaction | 1.08418209 |
| 18 | MP0005647_abnormal_sex_gland | 0.90587751 |
| 19 | MP0008995_early_reproductive_senescence | 0.84380250 |
| 20 | MP0005389_reproductive_system_phenotype | 0.77204312 |
| 21 | MP0002234_abnormal_pharynx_morphology | 0.77190132 |
| 22 | MP0008058_abnormal_DNA_repair | 0.72542157 |
| 23 | MP0003115_abnormal_respiratory_system | 0.71043268 |
| 24 | MP0009046_muscle_twitch | 0.68974299 |
| 25 | MP0005636_abnormal_mineral_homeostasis | 0.62056980 |
| 26 | MP0009278_abnormal_bone_marrow | 0.61884859 |
| 27 | MP0003011_delayed_dark_adaptation | 0.59289494 |
| 28 | MP0001324_abnormal_eye_pigmentation | 0.57400179 |
| 29 | MP0003329_amyloid_beta_deposits | 0.56758262 |
| 30 | MP0003878_abnormal_ear_physiology | 0.56264783 |
| 31 | MP0005377_hearing/vestibular/ear_phenot | 0.56264783 |
| 32 | MP0005666_abnormal_adipose_tissue | 0.54369457 |
| 33 | MP0004036_abnormal_muscle_relaxation | 0.50658813 |
| 34 | MP0005253_abnormal_eye_physiology | 0.50538320 |
| 35 | MP0005397_hematopoietic_system_phenotyp | 0.49392069 |
| 36 | MP0001545_abnormal_hematopoietic_system | 0.49392069 |
| 37 | MP0003699_abnormal_female_reproductive | 0.49070800 |
| 38 | MP0000358_abnormal_cell_content/ | 0.48246574 |
| 39 | MP0002269_muscular_atrophy | 0.46557932 |
| 40 | MP0001293_anophthalmia | 0.44583862 |
| 41 | MP0001764_abnormal_homeostasis | 0.43370906 |
| 42 | MP0001348_abnormal_lacrimal_gland | 0.40922134 |
| 43 | MP0005551_abnormal_eye_electrophysiolog | 0.40552114 |
| 44 | MP0010094_abnormal_chromosome_stability | 0.40101844 |
| 45 | MP0006036_abnormal_mitochondrial_physio | 0.39667985 |
| 46 | MP0002736_abnormal_nociception_after | 0.39183933 |
| 47 | MP0005391_vision/eye_phenotype | 0.36132553 |
| 48 | MP0004133_heterotaxia | 0.35750994 |
| 49 | MP0009115_abnormal_fat_cell | 0.35366677 |
| 50 | MP0000534_abnormal_ureter_morphology | 0.34984483 |
| 51 | MP0006035_abnormal_mitochondrial_morpho | 0.34604055 |
| 52 | MP0002928_abnormal_bile_duct | 0.33975735 |
| 53 | MP0008057_abnormal_DNA_replication | 0.31972033 |
| 54 | MP0003950_abnormal_plasma_membrane | 0.31849955 |
| 55 | MP0001727_abnormal_embryo_implantation | 0.31066835 |
| 56 | MP0004811_abnormal_neuron_physiology | 0.29573619 |
| 57 | MP0003633_abnormal_nervous_system | 0.29570611 |
| 58 | MP0002971_abnormal_brown_adipose | 0.29183405 |
| 59 | MP0003942_abnormal_urinary_system | 0.28332233 |
| 60 | MP0000604_amyloidosis | 0.27768812 |
| 61 | MP0000462_abnormal_digestive_system | 0.26988297 |
| 62 | MP0004742_abnormal_vestibular_system | 0.26421481 |
| 63 | MP0000569_abnormal_digit_pigmentation | 0.25388968 |
| 64 | MP0003861_abnormal_nervous_system | 0.24970386 |
| 65 | MP0004019_abnormal_vitamin_homeostasis | 0.24366001 |
| 66 | MP0003631_nervous_system_phenotype | 0.24150187 |
| 67 | MP0000920_abnormal_myelination | 0.23921560 |
| 68 | MP0002169_no_abnormal_phenotype | 0.23913105 |
| 69 | MP0002873_normal_phenotype | 0.23760430 |
| 70 | MP0002152_abnormal_brain_morphology | 0.23637804 |
| 71 | MP0004145_abnormal_muscle_electrophysio | 0.23156305 |
| 72 | MP0001119_abnormal_female_reproductive | 0.21640818 |
| 73 | MP0002139_abnormal_hepatobiliary_system | 0.21279530 |
| 74 | MP0001730_embryonic_growth_arrest | 0.21249625 |
| 75 | MP0002822_catalepsy | 0.21076464 |
| 76 | MP0001968_abnormal_touch/_nociception | 0.20553868 |
| 77 | MP0000751_myopathy | 0.20058125 |
| 78 | MP0003111_abnormal_nucleus_morphology | 0.19838950 |
| 79 | MP0003786_premature_aging | 0.19698163 |
| 80 | MP0003948_abnormal_gas_homeostasis | 0.19614362 |
| 81 | MP0002295_abnormal_pulmonary_circulatio | 0.19177400 |
| 82 | MP0002092_abnormal_eye_morphology | 0.18494222 |
| 83 | MP0004270_analgesia | 0.18348577 |
| 84 | MP0005195_abnormal_posterior_eye | 0.16711727 |
| 85 | MP0003879_abnormal_hair_cell | 0.15962439 |
| 86 | MP0001849_ear_inflammation | 0.15923566 |
| 87 | MP0006072_abnormal_retinal_apoptosis | 0.15681267 |
| 88 | MP0000313_abnormal_cell_death | 0.15504545 |
| 89 | MP0004043_abnormal_pH_regulation | 0.15470605 |
| 90 | MP0008569_lethality_at_weaning | 0.15071516 |
| 91 | MP0002229_neurodegeneration | 0.14954956 |
| 92 | MP0000001_mammalian_phenotype | 0.14829606 |
| 93 | MP0002084_abnormal_developmental_patter | 0.14794073 |
| 94 | MP0002108_abnormal_muscle_morphology | 0.14744087 |
| 95 | MP0005319_abnormal_enzyme/_coenzyme | 0.14694206 |
| 96 | MP0005375_adipose_tissue_phenotype | 0.14266831 |
| 97 | MP0003634_abnormal_glial_cell | 0.14148649 |
| 98 | MP0002102_abnormal_ear_morphology | 0.14034507 |
| 99 | MP0002909_abnormal_adrenal_gland | 0.13781733 |
| 100 | MP0002118_abnormal_lipid_homeostasis | 0.12702553 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal respiratory motile cilium morphology (HP:0005938) | 9.41815032 |
| 2 | Abnormal respiratory epithelium morphology (HP:0012253) | 9.41815032 |
| 3 | Abnormal respiratory motile cilium physiology (HP:0012261) | 9.36105845 |
| 4 | Rhinitis (HP:0012384) | 7.44706307 |
| 5 | Chronic bronchitis (HP:0004469) | 7.40936982 |
| 6 | Abnormal ciliary motility (HP:0012262) | 7.38703503 |
| 7 | Infertility (HP:0000789) | 7.08516211 |
| 8 | Nasal polyposis (HP:0100582) | 6.31855815 |
| 9 | Abnormality of the nasal mucosa (HP:0000433) | 5.18911647 |
| 10 | Male infertility (HP:0003251) | 5.05461638 |
| 11 | Bronchitis (HP:0012387) | 4.55294078 |
| 12 | Bronchiectasis (HP:0002110) | 4.35578043 |
| 13 | Nephronophthisis (HP:0000090) | 4.03705736 |
| 14 | Abnormal spermatogenesis (HP:0008669) | 3.58037193 |
| 15 | Recurrent sinusitis (HP:0011108) | 3.38438129 |
| 16 | Recurrent otitis media (HP:0000403) | 3.27546705 |
| 17 | Abnormality of the renal medulla (HP:0100957) | 3.01393306 |
| 18 | Tubulointerstitial nephritis (HP:0001970) | 2.95607599 |
| 19 | Recurrent bronchitis (HP:0002837) | 2.64865475 |
| 20 | Impulsivity (HP:0100710) | 2.55520598 |
| 21 | Tubular atrophy (HP:0000092) | 2.55042740 |
| 22 | Molar tooth sign on MRI (HP:0002419) | 2.45917294 |
| 23 | Abnormality of midbrain morphology (HP:0002418) | 2.45917294 |
| 24 | Tubulointerstitial abnormality (HP:0001969) | 2.44218813 |
| 25 | Abnormal gallbladder physiology (HP:0012438) | 2.41211320 |
| 26 | Cholecystitis (HP:0001082) | 2.41211320 |
| 27 | Medial flaring of the eyebrow (HP:0010747) | 2.38215453 |
| 28 | Dyschromatopsia (HP:0007641) | 2.29031463 |
| 29 | Gonadotropin excess (HP:0000837) | 2.23904824 |
| 30 | Hemorrhage of the eye (HP:0011885) | 2.22452662 |
| 31 | Azoospermia (HP:0000027) | 2.17361171 |
| 32 | Decreased central vision (HP:0007663) | 2.00527095 |
| 33 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 13.5810922 |
| 34 | Absent/shortened dynein arms (HP:0200106) | 13.5810922 |
| 35 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 13.0783992 |
| 36 | Choroideremia (HP:0001139) | 1.99510561 |
| 37 | Spastic tetraparesis (HP:0001285) | 1.91421585 |
| 38 | Tubulointerstitial fibrosis (HP:0005576) | 1.90427982 |
| 39 | Abnormal drinking behavior (HP:0030082) | 1.84776917 |
| 40 | Polydipsia (HP:0001959) | 1.84776917 |
| 41 | Congenital malformation of the right heart (HP:0011723) | 1.80190387 |
| 42 | Double outlet right ventricle (HP:0001719) | 1.80190387 |
| 43 | Postaxial foot polydactyly (HP:0001830) | 1.75153809 |
| 44 | Stage 5 chronic kidney disease (HP:0003774) | 1.72144994 |
| 45 | Abnormality of renal excretion (HP:0011036) | 1.72004166 |
| 46 | Heterotopia (HP:0002282) | 1.69663856 |
| 47 | Neurofibrillary tangles (HP:0002185) | 1.69391486 |
| 48 | Asymmetric septal hypertrophy (HP:0001670) | 1.67766065 |
| 49 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.60499992 |
| 50 | Abnormal biliary tract physiology (HP:0012439) | 1.58137943 |
| 51 | Bile duct proliferation (HP:0001408) | 1.58137943 |
| 52 | Abnormality of the dental root (HP:0006486) | 1.56778753 |
| 53 | Taurodontia (HP:0000679) | 1.56778753 |
| 54 | Abnormality of permanent molar morphology (HP:0011071) | 1.56778753 |
| 55 | Abnormality of the renal cortex (HP:0011035) | 1.53383305 |
| 56 | Congenital hepatic fibrosis (HP:0002612) | 1.52148358 |
| 57 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 1.47514963 |
| 58 | Abnormality of dentin (HP:0010299) | 1.47196985 |
| 59 | Bell-shaped thorax (HP:0001591) | 1.46393807 |
| 60 | Abnormality of the dental pulp (HP:0006479) | 1.45428334 |
| 61 | Abnormality of molar (HP:0011077) | 1.44553708 |
| 62 | Abnormality of molar morphology (HP:0011070) | 1.44553708 |
| 63 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.44487268 |
| 64 | Short ribs (HP:0000773) | 1.44280218 |
| 65 | Oculomotor apraxia (HP:0000657) | 1.43082455 |
| 66 | Abnormal urine output (HP:0012590) | 1.42860287 |
| 67 | Broad distal phalanx of finger (HP:0009836) | 1.40847251 |
| 68 | Bundle branch block (HP:0011710) | 1.40751221 |
| 69 | Postaxial hand polydactyly (HP:0001162) | 1.36897284 |
| 70 | Cerebral inclusion bodies (HP:0100314) | 1.36560720 |
| 71 | Fibular hypoplasia (HP:0003038) | 1.34913324 |
| 72 | Exercise-induced myalgia (HP:0003738) | 1.32859656 |
| 73 | Sensory axonal neuropathy (HP:0003390) | 1.29442653 |
| 74 | Cystic liver disease (HP:0006706) | 1.28601828 |
| 75 | Fatigable weakness (HP:0003473) | 1.27589676 |
| 76 | Abnormality of the neuromuscular junction (HP:0003398) | 1.27589676 |
| 77 | Renal dysplasia (HP:0000110) | 1.26913303 |
| 78 | Easy fatigability (HP:0003388) | 1.26276904 |
| 79 | Absent epiphyses (HP:0010577) | 1.25562574 |
| 80 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.25562574 |
| 81 | Deformed sella turcica (HP:0002681) | 1.24631902 |
| 82 | Gait imbalance (HP:0002141) | 1.24036753 |
| 83 | Congenital primary aphakia (HP:0007707) | 1.23439704 |
| 84 | Myoglobinuria (HP:0002913) | 1.23371974 |
| 85 | Abnormality of the lower motor neuron (HP:0002366) | 1.22631348 |
| 86 | Constricted visual fields (HP:0001133) | 1.22070322 |
| 87 | Chronic sinusitis (HP:0011109) | 1.20932167 |
| 88 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 1.20066728 |
| 89 | Polyuria (HP:0000103) | 1.17386694 |
| 90 | Hypercholesterolemia (HP:0003124) | 1.17291169 |
| 91 | Loss of speech (HP:0002371) | 1.16913026 |
| 92 | Hemiparesis (HP:0001269) | 1.15416377 |
| 93 | Vascular calcification (HP:0004934) | 1.14466663 |
| 94 | Rhabdomyolysis (HP:0003201) | 1.12144138 |
| 95 | Short femoral neck (HP:0100864) | 1.12116840 |
| 96 | Absent frontal sinuses (HP:0002688) | 1.11236425 |
| 97 | Facial cleft (HP:0002006) | 1.10711042 |
| 98 | Nephropathy (HP:0000112) | 1.10098673 |
| 99 | J-shaped sella turcica (HP:0002680) | 1.08707525 |
| 100 | Generalized muscle weakness (HP:0003324) | 1.06975731 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK4 | 8.11913667 |
| 2 | PDK3 | 8.11913667 |
| 3 | TESK1 | 6.42035391 |
| 4 | PDK2 | 5.24524314 |
| 5 | PRKD3 | 4.88913236 |
| 6 | ICK | 4.85333946 |
| 7 | PTK2B | 2.22114565 |
| 8 | STK39 | 2.09573539 |
| 9 | WNK4 | 2.04987385 |
| 10 | STK38 | 1.81132529 |
| 11 | PNCK | 1.74417487 |
| 12 | DYRK1B | 1.70800950 |
| 13 | NEK2 | 1.50866584 |
| 14 | MAPK15 | 1.27358871 |
| 15 | PDK1 | 1.21314751 |
| 16 | TYRO3 | 1.17540046 |
| 17 | DYRK3 | 0.90943692 |
| 18 | IRAK1 | 0.85210210 |
| 19 | PDPK1 | 0.77269853 |
| 20 | WNK1 | 0.74642587 |
| 21 | PINK1 | 0.72544359 |
| 22 | TESK2 | 0.65705024 |
| 23 | RIPK4 | 0.64717738 |
| 24 | PASK | 0.60137402 |
| 25 | MAP2K6 | 0.58948078 |
| 26 | CHEK2 | 0.57947277 |
| 27 | IRAK2 | 0.57595755 |
| 28 | TTK | 0.56990861 |
| 29 | STK3 | 0.55998286 |
| 30 | EEF2K | 0.55166963 |
| 31 | CCNB1 | 0.52021763 |
| 32 | CAMK1G | 0.43919618 |
| 33 | PAK1 | 0.43506117 |
| 34 | LMTK2 | 0.42757949 |
| 35 | MUSK | 0.39166619 |
| 36 | NTRK2 | 0.37417415 |
| 37 | PRKCG | 0.35892691 |
| 38 | CHEK1 | 0.35874810 |
| 39 | STK38L | 0.34848322 |
| 40 | PAK2 | 0.34552415 |
| 41 | MAP3K10 | 0.33944269 |
| 42 | MARK2 | 0.26693963 |
| 43 | ATM | 0.25552631 |
| 44 | MTOR | 0.24006504 |
| 45 | PAK4 | 0.23759672 |
| 46 | TNIK | 0.21813591 |
| 47 | PRKAA1 | 0.21382737 |
| 48 | PRKCZ | 0.19273177 |
| 49 | MAPKAPK5 | 0.18394915 |
| 50 | CAMKK1 | 0.17772958 |
| 51 | ATR | 0.17244384 |
| 52 | CDK15 | 0.16550651 |
| 53 | RPS6KB1 | 0.16414082 |
| 54 | CLK1 | 0.14313736 |
| 55 | RPS6KA1 | 0.13920428 |
| 56 | CDK18 | 0.13694153 |
| 57 | NEK6 | 0.13217520 |
| 58 | CDK11A | 0.13109089 |
| 59 | YES1 | 0.12679292 |
| 60 | PRKCQ | 0.12669389 |
| 61 | CSK | 0.12629399 |
| 62 | EPHB1 | 0.12511468 |
| 63 | PLK1 | 0.10856771 |
| 64 | CDK6 | 0.10205848 |
| 65 | CAMK2A | 0.10183273 |
| 66 | PRKG2 | 0.09083254 |
| 67 | PLK4 | 0.08780459 |
| 68 | CSNK2A1 | 0.08390992 |
| 69 | CDK14 | 0.08168998 |
| 70 | PIM1 | 0.08154133 |
| 71 | GSK3B | 0.07850721 |
| 72 | WEE1 | 0.07806222 |
| 73 | PKN1 | 0.06967927 |
| 74 | CSNK1D | 0.06927474 |
| 75 | CSF1R | 0.06503377 |
| 76 | PRKACG | 0.05710790 |
| 77 | EGFR | 0.05286067 |
| 78 | DDR2 | 0.04872166 |
| 79 | PRKCD | 0.04819839 |
| 80 | PRKG1 | 0.03941984 |
| 81 | CSNK2A2 | 0.03175341 |
| 82 | CDK2 | 0.02880400 |
| 83 | MAPK8 | 0.02641695 |
| 84 | BRSK2 | 0.02021062 |
| 85 | CDK1 | 0.01985223 |
| 86 | PRKCA | 0.00783939 |
| 87 | GSK3A | 0.00742610 |
| 88 | PRKCB | 0.00539423 |
| 89 | MAP3K5 | -0.0288891 |
| 90 | SRC | -0.0265195 |
| 91 | AURKA | -0.0210681 |
| 92 | RPS6KA3 | -0.0173272 |
| 93 | PRKACB | -0.0165400 |
| 94 | PRKACA | -0.0164745 |
| 95 | PDGFRB | -0.0140610 |
| 96 | MARK3 | -0.0119589 |
| 97 | BRSK1 | -0.0111314 |
| 98 | BRAF | -0.0102307 |
| 99 | CDC7 | -0.0068563 |
| 100 | UHMK1 | -0.0057904 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 5.05722873 |
| 2 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 4.53121295 |
| 3 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 3.58936753 |
| 4 | Pyruvate metabolism_Homo sapiens_hsa00620 | 3.47281545 |
| 5 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 3.14612240 |
| 6 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 3.06471822 |
| 7 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 2.85193489 |
| 8 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.56225405 |
| 9 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 2.52349944 |
| 10 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 2.46007286 |
| 11 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 2.29972056 |
| 12 | Basal transcription factors_Homo sapiens_hsa03022 | 2.01888427 |
| 13 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 2.00626847 |
| 14 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.89356116 |
| 15 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.85888834 |
| 16 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.84650024 |
| 17 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.79641189 |
| 18 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.65697847 |
| 19 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.65044010 |
| 20 | Mineral absorption_Homo sapiens_hsa04978 | 1.63890264 |
| 21 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.61900947 |
| 22 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.60598629 |
| 23 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.58918881 |
| 24 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.56230740 |
| 25 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.53548325 |
| 26 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.48518925 |
| 27 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.48510244 |
| 28 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.45597317 |
| 29 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.44949356 |
| 30 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.39865949 |
| 31 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.35525076 |
| 32 | Carbon metabolism_Homo sapiens_hsa01200 | 1.29973092 |
| 33 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.27200981 |
| 34 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.25861125 |
| 35 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.19554238 |
| 36 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.13810487 |
| 37 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.06675194 |
| 38 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.04869071 |
| 39 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.04256246 |
| 40 | Renin secretion_Homo sapiens_hsa04924 | 1.03973815 |
| 41 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.00505575 |
| 42 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.96873849 |
| 43 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.96068872 |
| 44 | Huntingtons disease_Homo sapiens_hsa05016 | 0.92994311 |
| 45 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.91979800 |
| 46 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.91325888 |
| 47 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.90272143 |
| 48 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.89314595 |
| 49 | Purine metabolism_Homo sapiens_hsa00230 | 0.87887679 |
| 50 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.86856656 |
| 51 | Insulin secretion_Homo sapiens_hsa04911 | 0.75479153 |
| 52 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.75314248 |
| 53 | Bile secretion_Homo sapiens_hsa04976 | 0.71786717 |
| 54 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.71657909 |
| 55 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.71515824 |
| 56 | Long-term potentiation_Homo sapiens_hsa04720 | 0.70326360 |
| 57 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.65453883 |
| 58 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.64143972 |
| 59 | RNA transport_Homo sapiens_hsa03013 | 0.60868517 |
| 60 | Legionellosis_Homo sapiens_hsa05134 | 0.56731434 |
| 61 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.54641642 |
| 62 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.53509096 |
| 63 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.53345629 |
| 64 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.52431002 |
| 65 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.49604935 |
| 66 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.48945446 |
| 67 | Salivary secretion_Homo sapiens_hsa04970 | 0.48539245 |
| 68 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.46106925 |
| 69 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.45972326 |
| 70 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.45180400 |
| 71 | Endocytosis_Homo sapiens_hsa04144 | 0.43340805 |
| 72 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.41500235 |
| 73 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.38872907 |
| 74 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.38750878 |
| 75 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.38493139 |
| 76 | ABC transporters_Homo sapiens_hsa02010 | 0.38402577 |
| 77 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.38216275 |
| 78 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.37464166 |
| 79 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.36539042 |
| 80 | Metabolic pathways_Homo sapiens_hsa01100 | 0.36494814 |
| 81 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.35557816 |
| 82 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.33623545 |
| 83 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.31991352 |
| 84 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.30982287 |
| 85 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.30780431 |
| 86 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.30052047 |
| 87 | Alcoholism_Homo sapiens_hsa05034 | 0.26972333 |
| 88 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.26775581 |
| 89 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.26288178 |
| 90 | Circadian entrainment_Homo sapiens_hsa04713 | 0.20896970 |
| 91 | Taste transduction_Homo sapiens_hsa04742 | 0.20251619 |
| 92 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.17309176 |
| 93 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.14521257 |
| 94 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.12294580 |
| 95 | Cocaine addiction_Homo sapiens_hsa05030 | 0.11537639 |
| 96 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.07580032 |
| 97 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.07349237 |
| 98 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.06472747 |
| 99 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.05365622 |
| 100 | Salmonella infection_Homo sapiens_hsa05132 | 0.05223104 |

