

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | epithelial cilium movement (GO:0003351) | 9.63739095 |
| 2 | axonemal dynein complex assembly (GO:0070286) | 9.62955820 |
| 3 | spermatid development (GO:0007286) | 9.18087280 |
| 4 | motile cilium assembly (GO:0044458) | 8.67942120 |
| 5 | regulation of cilium movement (GO:0003352) | 8.09002895 |
| 6 | cilium movement (GO:0003341) | 8.07795174 |
| 7 | single fertilization (GO:0007338) | 7.74983356 |
| 8 | male meiosis (GO:0007140) | 7.70355413 |
| 9 | sperm capacitation (GO:0048240) | 7.69494216 |
| 10 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 7.39812943 |
| 11 | synaptonemal complex assembly (GO:0007130) | 7.29126454 |
| 12 | synaptonemal complex organization (GO:0070193) | 7.19740748 |
| 13 | piRNA metabolic process (GO:0034587) | 6.52124277 |
| 14 | spermatid nucleus differentiation (GO:0007289) | 6.38175362 |
| 15 | fertilization (GO:0009566) | 6.31024815 |
| 16 | spermatogenesis (GO:0007283) | 6.15981800 |
| 17 | microtubule depolymerization (GO:0007019) | 6.13899492 |
| 18 | male gamete generation (GO:0048232) | 6.13803088 |
| 19 | negative regulation of inclusion body assembly (GO:0090084) | 5.92131453 |
| 20 | organic cation transport (GO:0015695) | 5.74531748 |
| 21 | gamete generation (GO:0007276) | 5.67719697 |
| 22 | calcium ion-dependent exocytosis (GO:0017156) | 5.25976215 |
| 23 | microtubule severing (GO:0051013) | 5.25792303 |
| 24 | cell recognition (GO:0008037) | 5.25221298 |
| 25 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 5.25021002 |
| 26 | ventricular system development (GO:0021591) | 5.17770753 |
| 27 | regulation of inclusion body assembly (GO:0090083) | 5.11860069 |
| 28 | germ cell development (GO:0007281) | 5.07054493 |
| 29 | chromosome organization involved in meiosis (GO:0070192) | 4.98068798 |
| 30 | regulation of microtubule-based movement (GO:0060632) | 4.68721558 |
| 31 | monoubiquitinated protein deubiquitination (GO:0035520) | 4.57977058 |
| 32 | glycerol ether metabolic process (GO:0006662) | 4.56511638 |
| 33 | male meiosis I (GO:0007141) | 4.48672214 |
| 34 | meiotic nuclear division (GO:0007126) | 4.46368800 |
| 35 | multicellular organismal reproductive process (GO:0048609) | 4.45864892 |
| 36 | chromosome condensation (GO:0030261) | 4.23408590 |
| 37 | single strand break repair (GO:0000012) | 4.21971768 |
| 38 | ether metabolic process (GO:0018904) | 4.21651950 |
| 39 | DNA methylation involved in gamete generation (GO:0043046) | 4.19314783 |
| 40 | protein polyglutamylation (GO:0018095) | 4.06158424 |
| 41 | sexual reproduction (GO:0019953) | 4.04983030 |
| 42 | DNA packaging (GO:0006323) | 3.91807922 |
| 43 | seminiferous tubule development (GO:0072520) | 3.76728489 |
| 44 | protein K11-linked deubiquitination (GO:0035871) | 3.72247018 |
| 45 | meiosis I (GO:0007127) | 3.65817791 |
| 46 | multicellular organismal development (GO:0007275) | 3.56443678 |
| 47 | chaperone-mediated protein complex assembly (GO:0051131) | 3.53228218 |
| 48 | left/right pattern formation (GO:0060972) | 3.47467577 |
| 49 | genitalia morphogenesis (GO:0035112) | 3.39462256 |
| 50 | microtubule polymerization or depolymerization (GO:0031109) | 3.26377213 |
| 51 | regulation of spindle checkpoint (GO:0090231) | 3.22528601 |
| 52 | carnitine transport (GO:0015879) | 3.07095763 |
| 53 | amino-acid betaine transport (GO:0015838) | 3.07095763 |
| 54 | nucleus organization (GO:0006997) | 3.05275835 |
| 55 | positive regulation of macrophage activation (GO:0043032) | 2.98179397 |
| 56 | synapsis (GO:0007129) | 2.96065470 |
| 57 | carnitine transmembrane transport (GO:1902603) | 2.96008795 |
| 58 | meiotic cell cycle (GO:0051321) | 2.94564145 |
| 59 | glycolytic process (GO:0006096) | 2.89856637 |
| 60 | centriole assembly (GO:0098534) | 2.89516050 |
| 61 | meiotic cell cycle process (GO:1903046) | 2.88344369 |
| 62 | cilium organization (GO:0044782) | 2.85300515 |
| 63 | intraciliary transport (GO:0042073) | 2.80732658 |
| 64 | protein localization to cilium (GO:0061512) | 2.80262743 |
| 65 | sequestering of actin monomers (GO:0042989) | 2.79233377 |
| 66 | polyol catabolic process (GO:0046174) | 2.78562656 |
| 67 | cellular component assembly involved in morphogenesis (GO:0010927) | 2.77535597 |
| 68 | microtubule-based movement (GO:0007018) | 2.77330835 |
| 69 | cilium assembly (GO:0042384) | 2.72932270 |
| 70 | centriole replication (GO:0007099) | 2.68613087 |
| 71 | nucleoside diphosphate phosphorylation (GO:0006165) | 2.68134483 |
| 72 | protein refolding (GO:0042026) | 2.66868055 |
| 73 | interferon-gamma secretion (GO:0072643) | 2.65219385 |
| 74 | mitotic sister chromatid cohesion (GO:0007064) | 2.64215190 |
| 75 | GTP biosynthetic process (GO:0006183) | 2.59103183 |
| 76 | alditol metabolic process (GO:0019400) | 2.58967148 |
| 77 | cilium morphogenesis (GO:0060271) | 2.56357457 |
| 78 | regulation of centriole replication (GO:0046599) | 2.50477000 |
| 79 | gene silencing by RNA (GO:0031047) | 2.50421110 |
| 80 | negative regulation of organelle assembly (GO:1902116) | 2.47595404 |
| 81 | peptidyl-glutamic acid modification (GO:0018200) | 2.45987590 |
| 82 | calcium ion import (GO:0070509) | 2.44854898 |
| 83 | lactate metabolic process (GO:0006089) | 2.44825099 |
| 84 | chromatin silencing (GO:0006342) | 2.41938316 |
| 85 | histone exchange (GO:0043486) | 2.40148188 |
| 86 | axoneme assembly (GO:0035082) | 2.38327566 |
| 87 | nuclear pore complex assembly (GO:0051292) | 2.37022705 |
| 88 | cell wall macromolecule metabolic process (GO:0044036) | 15.2075428 |
| 89 | cell wall macromolecule catabolic process (GO:0016998) | 15.2075428 |
| 90 | fusion of sperm to egg plasma membrane (GO:0007342) | 14.0575629 |
| 91 | sperm motility (GO:0030317) | 13.1267873 |
| 92 | acrosome assembly (GO:0001675) | 13.0577793 |
| 93 | multicellular organism reproduction (GO:0032504) | 12.2934690 |
| 94 | sperm-egg recognition (GO:0035036) | 12.0736346 |
| 95 | acrosome reaction (GO:0007340) | 10.9957652 |
| 96 | cell-cell recognition (GO:0009988) | 10.8248694 |
| 97 | plasma membrane fusion (GO:0045026) | 10.7090246 |
| 98 | binding of sperm to zona pellucida (GO:0007339) | 10.5181075 |
| 99 | reproduction (GO:0000003) | 10.4615492 |
| 100 | cilium or flagellum-dependent cell motility (GO:0001539) | 10.0522887 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 8.93120498 |
| 2 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 5.24325210 |
| 3 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 3.59704911 |
| 4 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 3.12848146 |
| 5 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.88303313 |
| 6 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.68408479 |
| 7 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.51445730 |
| 8 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.49747667 |
| 9 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 2.35670764 |
| 10 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 2.23158685 |
| 11 | VDR_22108803_ChIP-Seq_LS180_Human | 2.21389298 |
| 12 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 2.20644811 |
| 13 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 2.17764433 |
| 14 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 2.15253163 |
| 15 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.09079389 |
| 16 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.08716379 |
| 17 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.94639710 |
| 18 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.94123272 |
| 19 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.92135189 |
| 20 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.89264071 |
| 21 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.86531714 |
| 22 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.86144308 |
| 23 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.73565261 |
| 24 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.69380691 |
| 25 | GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.69363993 |
| 26 | KDM2B_26808549_Chip-Seq_REH_Human | 1.65524319 |
| 27 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.63328759 |
| 28 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.62504902 |
| 29 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.60276913 |
| 30 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.59996437 |
| 31 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.59172704 |
| 32 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.58487346 |
| 33 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 1.56005029 |
| 34 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.55909166 |
| 35 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.55111605 |
| 36 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.51929812 |
| 37 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.46846420 |
| 38 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.45737805 |
| 39 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.44505507 |
| 40 | GATA3_21867929_ChIP-Seq_TH1_Mouse | 1.42673141 |
| 41 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.42506969 |
| 42 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.41763025 |
| 43 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.39594755 |
| 44 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.39594755 |
| 45 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.39155134 |
| 46 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.36401220 |
| 47 | OCT4_18555785_Chip-Seq_ESCs_Mouse | 1.35192598 |
| 48 | LUZP1_20508642_ChIP-Seq_ESCs_Mouse | 1.33581911 |
| 49 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.32186138 |
| 50 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 1.31533040 |
| 51 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.31265807 |
| 52 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.29686507 |
| 53 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.25925002 |
| 54 | P53_22387025_ChIP-Seq_ESCs_Mouse | 1.25500347 |
| 55 | KLF4_18555785_Chip-Seq_ESCs_Mouse | 1.23630566 |
| 56 | P300_18555785_Chip-Seq_ESCs_Mouse | 1.23133244 |
| 57 | SPI1_26923725_Chip-Seq_HPCs_Mouse | 1.21186949 |
| 58 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.21073659 |
| 59 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 1.20939965 |
| 60 | ESRRB_18555785_Chip-Seq_ESCs_Mouse | 1.20794251 |
| 61 | CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.19673680 |
| 62 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.19032628 |
| 63 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.18139159 |
| 64 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 1.18137902 |
| 65 | EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 1.17748724 |
| 66 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 1.17733215 |
| 67 | FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.17583072 |
| 68 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.16827472 |
| 69 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.16827472 |
| 70 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.14687789 |
| 71 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.14264139 |
| 72 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 1.13032858 |
| 73 | SOX2_18555785_Chip-Seq_ESCs_Mouse | 1.12838904 |
| 74 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.12716550 |
| 75 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 1.12684359 |
| 76 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 1.12044512 |
| 77 | CTCF_18555785_Chip-Seq_ESCs_Mouse | 1.10520686 |
| 78 | ESET_19884257_ChIP-Seq_ESCs_Mouse | 1.06704137 |
| 79 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.05727412 |
| 80 | CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.05374674 |
| 81 | RUNX1_27457419_Chip-Seq_LIVER_Mouse | 1.02709405 |
| 82 | RARA_24833708_ChIP-Seq_LIVER_Mouse | 1.01673432 |
| 83 | E2F1_18555785_Chip-Seq_ESCs_Mouse | 1.00679320 |
| 84 | LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.00301802 |
| 85 | NMYC_18555785_Chip-Seq_ESCs_Mouse | 0.99675411 |
| 86 | GF1B_26923725_Chip-Seq_HPCs_Mouse | 0.99603898 |
| 87 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 0.99238758 |
| 88 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 0.99198679 |
| 89 | SMAD1_18555785_Chip-Seq_ESCs_Mouse | 0.98731835 |
| 90 | STAT3_18555785_ChIP-Seq_MESCs_Mouse | 0.97554298 |
| 91 | TAF15_26573619_Chip-Seq_HEK293_Human | 0.97179113 |
| 92 | PU1_27457419_Chip-Seq_LIVER_Mouse | 0.96279336 |
| 93 | SOX9_26525672_Chip-Seq_HEART_Mouse | 0.95220854 |
| 94 | GATA1_19941827_ChIP-Seq_MEL86_Mouse | 0.94493116 |
| 95 | SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.94379531 |
| 96 | ZFX_18555785_Chip-Seq_ESCs_Mouse | 0.94187196 |
| 97 | ERG_20517297_ChIP-Seq_VCAP_Human | 0.93634793 |
| 98 | RCOR3_21632747_ChIP-Seq_MESCs_Mouse | 0.93294823 |
| 99 | FLI1_21867929_ChIP-Seq_CD8_Mouse | 0.93038032 |
| 100 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 0.92781671 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 6.10874249 |
| 2 | MP0001929_abnormal_gametogenesis | 5.62763661 |
| 3 | MP0008877_abnormal_DNA_methylation | 4.48972486 |
| 4 | MP0002653_abnormal_ependyma_morphology | 3.62111961 |
| 5 | MP0002210_abnormal_sex_determination | 3.55149955 |
| 6 | MP0002161_abnormal_fertility/fecundity | 3.34667825 |
| 7 | MP0001145_abnormal_male_reproductive | 3.07150052 |
| 8 | MP0000653_abnormal_sex_gland | 2.70897895 |
| 9 | MP0005670_abnormal_white_adipose | 2.22277577 |
| 10 | MP0005623_abnormal_meninges_morphology | 2.07654659 |
| 11 | MP0005410_abnormal_fertilization | 15.8104154 |
| 12 | MP0003646_muscle_fatigue | 1.69046349 |
| 13 | MP0008058_abnormal_DNA_repair | 1.57434169 |
| 14 | MP0009046_muscle_twitch | 1.56035761 |
| 15 | MP0004233_abnormal_muscle_weight | 1.55964050 |
| 16 | MP0002282_abnormal_trachea_morphology | 1.42669109 |
| 17 | MP0002160_abnormal_reproductive_system | 1.22226563 |
| 18 | MP0001765_abnormal_ion_homeostasis | 1.11560629 |
| 19 | MP0008057_abnormal_DNA_replication | 1.10260328 |
| 20 | MP0005647_abnormal_sex_gland | 1.08264184 |
| 21 | MP0001984_abnormal_olfaction | 0.97343214 |
| 22 | MP0002102_abnormal_ear_morphology | 0.95515564 |
| 23 | MP0010094_abnormal_chromosome_stability | 0.91823187 |
| 24 | MP0008995_early_reproductive_senescence | 0.75275468 |
| 25 | MP0005389_reproductive_system_phenotype | 0.69211531 |
| 26 | MP0003699_abnormal_female_reproductive | 0.68958535 |
| 27 | MP0002234_abnormal_pharynx_morphology | 0.61837973 |
| 28 | MP0004036_abnormal_muscle_relaxation | 0.57438739 |
| 29 | MP0005636_abnormal_mineral_homeostasis | 0.55629349 |
| 30 | MP0001119_abnormal_female_reproductive | 0.54539493 |
| 31 | MP0001293_anophthalmia | 0.53728353 |
| 32 | MP0003111_abnormal_nucleus_morphology | 0.53611189 |
| 33 | MP0010307_abnormal_tumor_latency | 0.52597235 |
| 34 | MP0003115_abnormal_respiratory_system | 0.51279369 |
| 35 | MP0002928_abnormal_bile_duct | 0.49944914 |
| 36 | MP0001324_abnormal_eye_pigmentation | 0.48501519 |
| 37 | MP0001730_embryonic_growth_arrest | 0.43492375 |
| 38 | MP0005397_hematopoietic_system_phenotyp | 0.43338740 |
| 39 | MP0001545_abnormal_hematopoietic_system | 0.43338740 |
| 40 | MP0003786_premature_aging | 0.43207126 |
| 41 | MP0008007_abnormal_cellular_replicative | 0.43099089 |
| 42 | MP0003950_abnormal_plasma_membrane | 0.42572912 |
| 43 | MP0000358_abnormal_cell_content/ | 0.42143198 |
| 44 | MP0001764_abnormal_homeostasis | 0.41879049 |
| 45 | MP0003011_delayed_dark_adaptation | 0.40874650 |
| 46 | MP0005666_abnormal_adipose_tissue | 0.40006246 |
| 47 | MP0002269_muscular_atrophy | 0.39990294 |
| 48 | MP0004133_heterotaxia | 0.39591386 |
| 49 | MP0005551_abnormal_eye_electrophysiolog | 0.38849418 |
| 50 | MP0002132_abnormal_respiratory_system | 0.38745268 |
| 51 | MP0004084_abnormal_cardiac_muscle | 0.36490174 |
| 52 | MP0004019_abnormal_vitamin_homeostasis | 0.36404980 |
| 53 | MP0002084_abnormal_developmental_patter | 0.36061149 |
| 54 | MP0003633_abnormal_nervous_system | 0.35615967 |
| 55 | MP0005377_hearing/vestibular/ear_phenot | 0.35280776 |
| 56 | MP0003878_abnormal_ear_physiology | 0.35280776 |
| 57 | MP0005253_abnormal_eye_physiology | 0.34140053 |
| 58 | MP0009278_abnormal_bone_marrow | 0.33582573 |
| 59 | MP0009115_abnormal_fat_cell | 0.33057331 |
| 60 | MP0003861_abnormal_nervous_system | 0.31656190 |
| 61 | MP0002971_abnormal_brown_adipose | 0.30995006 |
| 62 | MP0006036_abnormal_mitochondrial_physio | 0.29982239 |
| 63 | MP0000462_abnormal_digestive_system | 0.29271132 |
| 64 | MP0001697_abnormal_embryo_size | 0.28063209 |
| 65 | MP0005391_vision/eye_phenotype | 0.27255802 |
| 66 | MP0000313_abnormal_cell_death | 0.27135284 |
| 67 | MP0003631_nervous_system_phenotype | 0.26715570 |
| 68 | MP0001672_abnormal_embryogenesis/_devel | 0.26003255 |
| 69 | MP0005380_embryogenesis_phenotype | 0.26003255 |
| 70 | MP0002085_abnormal_embryonic_tissue | 0.25243157 |
| 71 | MP0003077_abnormal_cell_cycle | 0.24150782 |
| 72 | MP0000432_abnormal_head_morphology | 0.24064257 |
| 73 | MP0004145_abnormal_muscle_electrophysio | 0.23985129 |
| 74 | MP0002152_abnormal_brain_morphology | 0.23661781 |
| 75 | MP0002736_abnormal_nociception_after | 0.23029277 |
| 76 | MP0002169_no_abnormal_phenotype | 0.22910805 |
| 77 | MP0002873_normal_phenotype | 0.22627729 |
| 78 | MP0003329_amyloid_beta_deposits | 0.22002993 |
| 79 | MP0003984_embryonic_growth_retardation | 0.21777392 |
| 80 | MP0000534_abnormal_ureter_morphology | 0.20958157 |
| 81 | MP0002139_abnormal_hepatobiliary_system | 0.20871471 |
| 82 | MP0000569_abnormal_digit_pigmentation | 0.20443572 |
| 83 | MP0009250_abnormal_appendicular_skeleto | 0.20421646 |
| 84 | MP0004811_abnormal_neuron_physiology | 0.19568539 |
| 85 | MP0005195_abnormal_posterior_eye | 0.19057513 |
| 86 | MP0002088_abnormal_embryonic_growth/wei | 0.18482274 |
| 87 | MP0002405_respiratory_system_inflammati | 0.17946335 |
| 88 | MP0002080_prenatal_lethality | 0.16613166 |
| 89 | MP0008875_abnormal_xenobiotic_pharmacok | 0.16541280 |
| 90 | MP0002009_preneoplasia | 0.16513502 |
| 91 | MP0005451_abnormal_body_composition | 0.15796805 |
| 92 | MP0000001_mammalian_phenotype | 0.15103829 |
| 93 | MP0006072_abnormal_retinal_apoptosis | 0.14527063 |
| 94 | MP0003943_abnormal_hepatobiliary_system | 0.14516911 |
| 95 | MP0005365_abnormal_bile_salt | 0.14242968 |
| 96 | MP0002837_dystrophic_cardiac_calcinosis | 0.13715794 |
| 97 | MP0009697_abnormal_copulation | 0.13489261 |
| 98 | MP0003787_abnormal_imprinting | 0.13368722 |
| 99 | MP0001919_abnormal_reproductive_system | 0.12822675 |
| 100 | MP0004957_abnormal_blastocyst_morpholog | 0.12633221 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal respiratory motile cilium physiology (HP:0012261) | 9.58621237 |
| 2 | Abnormal respiratory epithelium morphology (HP:0012253) | 8.81149567 |
| 3 | Abnormal respiratory motile cilium morphology (HP:0005938) | 8.81149567 |
| 4 | Abnormal ciliary motility (HP:0012262) | 7.95124933 |
| 5 | Rhinitis (HP:0012384) | 7.59866718 |
| 6 | Chronic bronchitis (HP:0004469) | 7.40166281 |
| 7 | Nasal polyposis (HP:0100582) | 6.30481626 |
| 8 | Infertility (HP:0000789) | 6.25856030 |
| 9 | Abnormality of the nasal mucosa (HP:0000433) | 5.16610896 |
| 10 | Male infertility (HP:0003251) | 5.02231730 |
| 11 | Bronchitis (HP:0012387) | 4.63185465 |
| 12 | Bronchiectasis (HP:0002110) | 4.48247104 |
| 13 | Nephronophthisis (HP:0000090) | 4.04012702 |
| 14 | Abnormal spermatogenesis (HP:0008669) | 3.87227521 |
| 15 | Recurrent sinusitis (HP:0011108) | 3.61730757 |
| 16 | Recurrent otitis media (HP:0000403) | 3.34565385 |
| 17 | Medial flaring of the eyebrow (HP:0010747) | 3.03326425 |
| 18 | Abnormality of the renal medulla (HP:0100957) | 3.01766453 |
| 19 | Abnormality of midbrain morphology (HP:0002418) | 2.92003554 |
| 20 | Molar tooth sign on MRI (HP:0002419) | 2.92003554 |
| 21 | Recurrent bronchitis (HP:0002837) | 2.78531589 |
| 22 | Azoospermia (HP:0000027) | 2.72026742 |
| 23 | Tubular atrophy (HP:0000092) | 2.55802860 |
| 24 | Tubulointerstitial nephritis (HP:0001970) | 2.55262306 |
| 25 | Tongue fasciculations (HP:0001308) | 2.54512896 |
| 26 | Muscle fibrillation (HP:0010546) | 2.31739610 |
| 27 | Tubulointerstitial abnormality (HP:0001969) | 2.30968628 |
| 28 | Impulsivity (HP:0100710) | 2.26049756 |
| 29 | Pancreatic fibrosis (HP:0100732) | 2.22654423 |
| 30 | Microglossia (HP:0000171) | 2.08827790 |
| 31 | Postaxial foot polydactyly (HP:0001830) | 2.02391739 |
| 32 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 13.9310119 |
| 33 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 12.6658418 |
| 34 | Absent/shortened dynein arms (HP:0200106) | 12.6658418 |
| 35 | Tubulointerstitial fibrosis (HP:0005576) | 1.94823665 |
| 36 | Congenital primary aphakia (HP:0007707) | 1.92571388 |
| 37 | Gait imbalance (HP:0002141) | 1.92218491 |
| 38 | Decreased central vision (HP:0007663) | 1.90591189 |
| 39 | Congenital hepatic fibrosis (HP:0002612) | 1.90008603 |
| 40 | Polydipsia (HP:0001959) | 1.77029480 |
| 41 | Abnormal drinking behavior (HP:0030082) | 1.77029480 |
| 42 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.73715004 |
| 43 | Abnormality of saccadic eye movements (HP:0000570) | 1.73295005 |
| 44 | Optic nerve hypoplasia (HP:0000609) | 1.72705575 |
| 45 | Dyschromatopsia (HP:0007641) | 1.71104151 |
| 46 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 1.68392239 |
| 47 | Facial cleft (HP:0002006) | 1.68332301 |
| 48 | Chronic sinusitis (HP:0011109) | 1.67273641 |
| 49 | Stage 5 chronic kidney disease (HP:0003774) | 1.65761294 |
| 50 | Postaxial hand polydactyly (HP:0001162) | 1.65204283 |
| 51 | Short ribs (HP:0000773) | 1.64470167 |
| 52 | Median cleft lip (HP:0000161) | 1.62349510 |
| 53 | Nephrogenic diabetes insipidus (HP:0009806) | 1.62005247 |
| 54 | Abnormality of renal excretion (HP:0011036) | 1.61695430 |
| 55 | Genital tract atresia (HP:0001827) | 1.61234834 |
| 56 | Gonadotropin excess (HP:0000837) | 1.61156309 |
| 57 | Bile duct proliferation (HP:0001408) | 1.61052937 |
| 58 | Abnormal biliary tract physiology (HP:0012439) | 1.61052937 |
| 59 | Abnormality of the renal cortex (HP:0011035) | 1.59842594 |
| 60 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.58685595 |
| 61 | Asymmetric septal hypertrophy (HP:0001670) | 1.58331798 |
| 62 | Renal dysplasia (HP:0000110) | 1.56430471 |
| 63 | Cystic liver disease (HP:0006706) | 1.54810853 |
| 64 | Poor coordination (HP:0002370) | 1.53793617 |
| 65 | Fibular hypoplasia (HP:0003038) | 1.52185693 |
| 66 | Abnormal gallbladder physiology (HP:0012438) | 1.51874839 |
| 67 | Cholecystitis (HP:0001082) | 1.51874839 |
| 68 | Oculomotor apraxia (HP:0000657) | 1.51326670 |
| 69 | Abnormality of the dental root (HP:0006486) | 1.50029504 |
| 70 | Taurodontia (HP:0000679) | 1.50029504 |
| 71 | Abnormality of permanent molar morphology (HP:0011071) | 1.50029504 |
| 72 | Heterotopia (HP:0002282) | 1.49776716 |
| 73 | Vaginal atresia (HP:0000148) | 1.48787692 |
| 74 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.47645335 |
| 75 | Abnormality of ocular smooth pursuit (HP:0000617) | 1.46852336 |
| 76 | Impaired smooth pursuit (HP:0007772) | 1.45388834 |
| 77 | Spastic tetraparesis (HP:0001285) | 1.45286241 |
| 78 | True hermaphroditism (HP:0010459) | 1.42896989 |
| 79 | Absent frontal sinuses (HP:0002688) | 1.41941799 |
| 80 | Abnormality of molar morphology (HP:0011070) | 1.41338381 |
| 81 | Abnormality of molar (HP:0011077) | 1.41338381 |
| 82 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.40201322 |
| 83 | Chronic hepatic failure (HP:0100626) | 1.38412463 |
| 84 | Bundle branch block (HP:0011710) | 1.37070983 |
| 85 | Abnormality of the dental pulp (HP:0006479) | 1.36617343 |
| 86 | Pancreatic cysts (HP:0001737) | 1.35538325 |
| 87 | Abnormality of lateral ventricle (HP:0030047) | 1.32671242 |
| 88 | Choroideremia (HP:0001139) | 1.30605718 |
| 89 | Abnormality of the lower motor neuron (HP:0002366) | 1.30194008 |
| 90 | J-shaped sella turcica (HP:0002680) | 1.29480413 |
| 91 | Double outlet right ventricle (HP:0001719) | 1.28298750 |
| 92 | Congenital malformation of the right heart (HP:0011723) | 1.28298750 |
| 93 | Abnormal urine output (HP:0012590) | 1.27805954 |
| 94 | Supernumerary spleens (HP:0009799) | 1.26251070 |
| 95 | Deformed sella turcica (HP:0002681) | 1.25571236 |
| 96 | Easy fatigability (HP:0003388) | 1.19938769 |
| 97 | Bell-shaped thorax (HP:0001591) | 1.19177555 |
| 98 | Constricted visual fields (HP:0001133) | 1.16285406 |
| 99 | Abnormality of dentin (HP:0010299) | 1.15965072 |
| 100 | Nephroblastoma (Wilms tumor) (HP:0002667) | 1.15452184 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK3 | 8.95130560 |
| 2 | PDK4 | 8.95130560 |
| 3 | PDK2 | 5.79131617 |
| 4 | TESK1 | 4.53437596 |
| 5 | PRKD3 | 4.06626918 |
| 6 | ICK | 3.46630083 |
| 7 | PTK2B | 2.28862992 |
| 8 | WNK4 | 2.13636556 |
| 9 | STK39 | 2.10145878 |
| 10 | STK38 | 1.66001604 |
| 11 | NEK2 | 1.53215669 |
| 12 | PNCK | 1.27741545 |
| 13 | STK38L | 1.23979160 |
| 14 | PDK1 | 1.22599865 |
| 15 | DYRK1B | 1.13571162 |
| 16 | TYRO3 | 1.12489276 |
| 17 | BRSK2 | 1.00251298 |
| 18 | DYRK3 | 0.95135269 |
| 19 | LMTK2 | 0.93235937 |
| 20 | CHEK2 | 0.85768873 |
| 21 | PLK4 | 0.85388475 |
| 22 | WEE1 | 0.82524944 |
| 23 | STK3 | 0.81194980 |
| 24 | TTK | 0.79792412 |
| 25 | MAPK15 | 0.72171144 |
| 26 | PDPK1 | 0.69843321 |
| 27 | CCNB1 | 0.64843058 |
| 28 | WNK1 | 0.61772932 |
| 29 | IRAK1 | 0.59346587 |
| 30 | MUSK | 0.56479385 |
| 31 | PINK1 | 0.54021781 |
| 32 | MAP2K6 | 0.53401962 |
| 33 | CHEK1 | 0.50348945 |
| 34 | EEF2K | 0.49566681 |
| 35 | BRSK1 | 0.47863881 |
| 36 | MAP2K7 | 0.46832215 |
| 37 | RIPK4 | 0.46236183 |
| 38 | PASK | 0.45025043 |
| 39 | TESK2 | 0.42585281 |
| 40 | CDC7 | 0.42313393 |
| 41 | PAK1 | 0.37802643 |
| 42 | PLK1 | 0.35314229 |
| 43 | ATM | 0.33152406 |
| 44 | MAP3K6 | 0.32864597 |
| 45 | LATS1 | 0.31351015 |
| 46 | LATS2 | 0.31264918 |
| 47 | ATR | 0.30148642 |
| 48 | CDK12 | 0.28667961 |
| 49 | MARK2 | 0.25672174 |
| 50 | PRKCG | 0.25386204 |
| 51 | NTRK2 | 0.24330822 |
| 52 | MARK3 | 0.23765588 |
| 53 | ZAP70 | 0.23095353 |
| 54 | NEK6 | 0.22819626 |
| 55 | TAOK1 | 0.22579482 |
| 56 | IRAK2 | 0.22386129 |
| 57 | BRAF | 0.21900061 |
| 58 | MAP3K4 | 0.21830976 |
| 59 | PRKAA1 | 0.21073471 |
| 60 | MAPKAPK5 | 0.19476158 |
| 61 | CAMK1G | 0.19188945 |
| 62 | PDGFRB | 0.18857032 |
| 63 | MTOR | 0.16972295 |
| 64 | CDK15 | 0.16183002 |
| 65 | PRKCZ | 0.15426994 |
| 66 | PAK2 | 0.13602252 |
| 67 | RPS6KB1 | 0.13315196 |
| 68 | PRKG2 | 0.13209574 |
| 69 | CDK18 | 0.12887989 |
| 70 | CDK11A | 0.12262073 |
| 71 | CDK2 | 0.11890195 |
| 72 | MAP3K5 | 0.11088613 |
| 73 | DDR2 | 0.11033359 |
| 74 | AURKA | 0.10902420 |
| 75 | CSNK2A1 | 0.10788308 |
| 76 | STK10 | 0.10026641 |
| 77 | CSNK2A2 | 0.09911535 |
| 78 | CDK3 | 0.09726790 |
| 79 | ACVR1B | 0.09721018 |
| 80 | CDK1 | 0.09295084 |
| 81 | GSK3B | 0.08851916 |
| 82 | CAMK2A | 0.08431267 |
| 83 | PIM1 | 0.07961620 |
| 84 | MAP3K10 | 0.07946998 |
| 85 | STK11 | 0.07924369 |
| 86 | PRKCQ | 0.07859088 |
| 87 | MAPK10 | 0.07082271 |
| 88 | CDK14 | 0.07055768 |
| 89 | PKN1 | 0.06967579 |
| 90 | RPS6KA1 | 0.06279232 |
| 91 | YES1 | 0.06168574 |
| 92 | CDK6 | 0.05332445 |
| 93 | MAPK8 | 0.04542072 |
| 94 | PAK6 | 0.04526849 |
| 95 | RIPK1 | 0.03889997 |
| 96 | DYRK2 | 0.03220137 |
| 97 | CAMKK1 | 0.02698651 |
| 98 | PRKG1 | 0.02685906 |
| 99 | AURKB | 0.01240899 |
| 100 | PRKACG | 0.01094305 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 4.32596230 |
| 2 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 4.13771833 |
| 3 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 3.98243700 |
| 4 | Pyruvate metabolism_Homo sapiens_hsa00620 | 3.36314647 |
| 5 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 3.23828811 |
| 6 | Basal transcription factors_Homo sapiens_hsa03022 | 3.17111728 |
| 7 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 2.87653279 |
| 8 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 2.84966521 |
| 9 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.65636726 |
| 10 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 2.60686779 |
| 11 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 2.50666527 |
| 12 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 2.25426570 |
| 13 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 2.20452727 |
| 14 | Oocyte meiosis_Homo sapiens_hsa04114 | 2.05803381 |
| 15 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.84577564 |
| 16 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.83375181 |
| 17 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 1.80185622 |
| 18 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.74600944 |
| 19 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.72291220 |
| 20 | Carbon metabolism_Homo sapiens_hsa01200 | 1.59914327 |
| 21 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.58380209 |
| 22 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.57397936 |
| 23 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 1.53718967 |
| 24 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.52097049 |
| 25 | Renin-angiotensin system_Homo sapiens_hsa04614 | 1.51734518 |
| 26 | Mineral absorption_Homo sapiens_hsa04978 | 1.51085290 |
| 27 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.37836735 |
| 28 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.34450373 |
| 29 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.31065003 |
| 30 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.29711557 |
| 31 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.23912934 |
| 32 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.22090546 |
| 33 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.21465457 |
| 34 | RNA transport_Homo sapiens_hsa03013 | 1.20794011 |
| 35 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 1.19824934 |
| 36 | Huntingtons disease_Homo sapiens_hsa05016 | 1.19118528 |
| 37 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.15612865 |
| 38 | Purine metabolism_Homo sapiens_hsa00230 | 1.15322158 |
| 39 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.14921242 |
| 40 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.06473949 |
| 41 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.94837149 |
| 42 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.92828696 |
| 43 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.92698666 |
| 44 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.91509380 |
| 45 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.88597725 |
| 46 | Renin secretion_Homo sapiens_hsa04924 | 0.87418548 |
| 47 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.85069675 |
| 48 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.78348182 |
| 49 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.77609543 |
| 50 | Cell cycle_Homo sapiens_hsa04110 | 0.73971872 |
| 51 | Insulin secretion_Homo sapiens_hsa04911 | 0.69631256 |
| 52 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.69200117 |
| 53 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.68907862 |
| 54 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.67157922 |
| 55 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.66074638 |
| 56 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.65337353 |
| 57 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.63537122 |
| 58 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.62531425 |
| 59 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.61523112 |
| 60 | Long-term potentiation_Homo sapiens_hsa04720 | 0.58903352 |
| 61 | Bile secretion_Homo sapiens_hsa04976 | 0.56187083 |
| 62 | Homologous recombination_Homo sapiens_hsa03440 | 0.54992444 |
| 63 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.54167269 |
| 64 | Lysine degradation_Homo sapiens_hsa00310 | 0.53230579 |
| 65 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.53219323 |
| 66 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.49728322 |
| 67 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.49707837 |
| 68 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.49699046 |
| 69 | Endocytosis_Homo sapiens_hsa04144 | 0.48163065 |
| 70 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.46877749 |
| 71 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.46028157 |
| 72 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.45799163 |
| 73 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.45272366 |
| 74 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.43473038 |
| 75 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.43130863 |
| 76 | Metabolic pathways_Homo sapiens_hsa01100 | 0.41425920 |
| 77 | RNA degradation_Homo sapiens_hsa03018 | 0.37845997 |
| 78 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.36899607 |
| 79 | Taste transduction_Homo sapiens_hsa04742 | 0.36117987 |
| 80 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.35881882 |
| 81 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.35223801 |
| 82 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.34473410 |
| 83 | Salivary secretion_Homo sapiens_hsa04970 | 0.32450935 |
| 84 | Legionellosis_Homo sapiens_hsa05134 | 0.29796291 |
| 85 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.29082429 |
| 86 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.28802197 |
| 87 | ABC transporters_Homo sapiens_hsa02010 | 0.28554082 |
| 88 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.28300168 |
| 89 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.28166273 |
| 90 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.26887719 |
| 91 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.26004673 |
| 92 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.23435921 |
| 93 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.22400324 |
| 94 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.17507596 |
| 95 | Cocaine addiction_Homo sapiens_hsa05030 | 0.17001203 |
| 96 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.14880550 |
| 97 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.14113598 |
| 98 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.12202584 |
| 99 | Tight junction_Homo sapiens_hsa04530 | 0.11707870 |
| 100 | Salmonella infection_Homo sapiens_hsa05132 | 0.11310684 |

