

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | axonemal dynein complex assembly (GO:0070286) | 9.72704442 |
| 2 | spermatid development (GO:0007286) | 9.70526773 |
| 3 | epithelial cilium movement (GO:0003351) | 9.68437650 |
| 4 | reproduction (GO:0000003) | 9.56603072 |
| 5 | motile cilium assembly (GO:0044458) | 9.54505327 |
| 6 | cilium or flagellum-dependent cell motility (GO:0001539) | 9.01758275 |
| 7 | regulation of cilium movement (GO:0003352) | 8.27273765 |
| 8 | cilium movement (GO:0003341) | 7.78074523 |
| 9 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 7.48400837 |
| 10 | single fertilization (GO:0007338) | 7.48058849 |
| 11 | negative regulation of inclusion body assembly (GO:0090084) | 7.01988462 |
| 12 | synaptonemal complex organization (GO:0070193) | 6.99407416 |
| 13 | male meiosis (GO:0007140) | 6.98290818 |
| 14 | piRNA metabolic process (GO:0034587) | 6.90455520 |
| 15 | sperm capacitation (GO:0048240) | 6.88955649 |
| 16 | synaptonemal complex assembly (GO:0007130) | 6.86713291 |
| 17 | spermatogenesis (GO:0007283) | 6.76360600 |
| 18 | male gamete generation (GO:0048232) | 6.73896488 |
| 19 | microtubule depolymerization (GO:0007019) | 6.63282035 |
| 20 | organic cation transport (GO:0015695) | 6.54693124 |
| 21 | fertilization (GO:0009566) | 6.33375862 |
| 22 | gamete generation (GO:0007276) | 6.19722762 |
| 23 | regulation of inclusion body assembly (GO:0090083) | 5.89025591 |
| 24 | calcium ion-dependent exocytosis (GO:0017156) | 5.72386414 |
| 25 | germ cell development (GO:0007281) | 5.38479949 |
| 26 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 5.36328736 |
| 27 | chromosome condensation (GO:0030261) | 5.20259028 |
| 28 | spermatid nucleus differentiation (GO:0007289) | 5.17484150 |
| 29 | glycerol ether metabolic process (GO:0006662) | 5.17448852 |
| 30 | cell recognition (GO:0008037) | 5.11803951 |
| 31 | ventricular system development (GO:0021591) | 4.94343126 |
| 32 | DNA packaging (GO:0006323) | 4.91778513 |
| 33 | regulation of microtubule-based movement (GO:0060632) | 4.87677984 |
| 34 | multicellular organismal reproductive process (GO:0048609) | 4.86620423 |
| 35 | ether metabolic process (GO:0018904) | 4.78593805 |
| 36 | chromosome organization involved in meiosis (GO:0070192) | 4.72276301 |
| 37 | male meiosis I (GO:0007141) | 4.69295465 |
| 38 | seminiferous tubule development (GO:0072520) | 4.57561132 |
| 39 | DNA methylation involved in gamete generation (GO:0043046) | 4.56051950 |
| 40 | microtubule severing (GO:0051013) | 4.45685705 |
| 41 | chaperone-mediated protein complex assembly (GO:0051131) | 4.17898116 |
| 42 | left/right pattern formation (GO:0060972) | 4.14176100 |
| 43 | meiotic nuclear division (GO:0007126) | 4.13456755 |
| 44 | sexual reproduction (GO:0019953) | 4.11529870 |
| 45 | single strand break repair (GO:0000012) | 3.99309548 |
| 46 | multicellular organismal development (GO:0007275) | 3.93715872 |
| 47 | sequestering of actin monomers (GO:0042989) | 3.87340117 |
| 48 | meiosis I (GO:0007127) | 3.74910922 |
| 49 | protein K11-linked deubiquitination (GO:0035871) | 3.49854222 |
| 50 | genitalia morphogenesis (GO:0035112) | 3.48961443 |
| 51 | microtubule polymerization or depolymerization (GO:0031109) | 3.44630476 |
| 52 | protein polyglutamylation (GO:0018095) | 3.36122028 |
| 53 | regulation of spindle checkpoint (GO:0090231) | 3.33249051 |
| 54 | monoubiquitinated protein deubiquitination (GO:0035520) | 3.27774685 |
| 55 | meiotic cell cycle (GO:0051321) | 3.26057743 |
| 56 | protein localization to cilium (GO:0061512) | 3.24978768 |
| 57 | protein refolding (GO:0042026) | 3.13745911 |
| 58 | polyol catabolic process (GO:0046174) | 3.13188481 |
| 59 | nucleoside diphosphate phosphorylation (GO:0006165) | 3.12057949 |
| 60 | amino-acid betaine transport (GO:0015838) | 3.11148990 |
| 61 | carnitine transport (GO:0015879) | 3.11148990 |
| 62 | glycolytic process (GO:0006096) | 3.05690178 |
| 63 | alditol metabolic process (GO:0019400) | 3.04535490 |
| 64 | mitotic sister chromatid cohesion (GO:0007064) | 3.02613472 |
| 65 | interferon-gamma secretion (GO:0072643) | 3.02343526 |
| 66 | GTP biosynthetic process (GO:0006183) | 3.01656883 |
| 67 | nucleus organization (GO:0006997) | 3.00784533 |
| 68 | positive regulation of macrophage activation (GO:0043032) | 2.96808963 |
| 69 | carnitine transmembrane transport (GO:1902603) | 2.94800128 |
| 70 | synapsis (GO:0007129) | 2.89182105 |
| 71 | cilium organization (GO:0044782) | 2.79338456 |
| 72 | lactate metabolic process (GO:0006089) | 2.78394790 |
| 73 | cilium morphogenesis (GO:0060271) | 2.74868589 |
| 74 | RNA localization (GO:0006403) | 2.72234484 |
| 75 | cellular component assembly involved in morphogenesis (GO:0010927) | 2.69979619 |
| 76 | intraciliary transport (GO:0042073) | 2.69574885 |
| 77 | meiotic cell cycle process (GO:1903046) | 2.69408800 |
| 78 | cilium assembly (GO:0042384) | 2.69239729 |
| 79 | microtubule-based movement (GO:0007018) | 2.69025218 |
| 80 | RNA destabilization (GO:0050779) | 2.68793012 |
| 81 | UTP biosynthetic process (GO:0006228) | 2.67541319 |
| 82 | axoneme assembly (GO:0035082) | 2.67280171 |
| 83 | regulation of cilium assembly (GO:1902017) | 2.65390171 |
| 84 | glycerol metabolic process (GO:0006071) | 2.59900077 |
| 85 | polyamine biosynthetic process (GO:0006596) | 2.57840862 |
| 86 | centriole assembly (GO:0098534) | 2.54826467 |
| 87 | chromatin silencing (GO:0006342) | 2.47519829 |
| 88 | UTP metabolic process (GO:0046051) | 2.44307767 |
| 89 | gene silencing by RNA (GO:0031047) | 2.41910771 |
| 90 | fusion of sperm to egg plasma membrane (GO:0007342) | 13.9232162 |
| 91 | cell wall macromolecule catabolic process (GO:0016998) | 13.8761254 |
| 92 | cell wall macromolecule metabolic process (GO:0044036) | 13.8761254 |
| 93 | sperm motility (GO:0030317) | 13.8070090 |
| 94 | acrosome reaction (GO:0007340) | 12.2328927 |
| 95 | acrosome assembly (GO:0001675) | 12.1537264 |
| 96 | sperm-egg recognition (GO:0035036) | 11.7402374 |
| 97 | multicellular organism reproduction (GO:0032504) | 11.1233827 |
| 98 | binding of sperm to zona pellucida (GO:0007339) | 10.6386081 |
| 99 | plasma membrane fusion (GO:0045026) | 10.6115848 |
| 100 | cell-cell recognition (GO:0009988) | 10.5003223 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 9.47699188 |
| 2 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 4.12505681 |
| 3 | EZH2_22144423_ChIP-Seq_EOC_Human | 4.12465183 |
| 4 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 3.19083472 |
| 5 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.98706007 |
| 6 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.94859770 |
| 7 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.65821376 |
| 8 | VDR_22108803_ChIP-Seq_LS180_Human | 2.35642239 |
| 9 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.15172979 |
| 10 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.15074502 |
| 11 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 2.14986405 |
| 12 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 2.12250184 |
| 13 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 2.06964071 |
| 14 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 2.02288402 |
| 15 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 1.90614175 |
| 16 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.87773976 |
| 17 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.78574971 |
| 18 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.75743180 |
| 19 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.74774301 |
| 20 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.73821560 |
| 21 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.72853321 |
| 22 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.70331852 |
| 23 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.63899593 |
| 24 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.60260940 |
| 25 | GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.57772714 |
| 26 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.57401326 |
| 27 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 1.56424908 |
| 28 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.54864821 |
| 29 | KDM2B_26808549_Chip-Seq_REH_Human | 1.53872025 |
| 30 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.52440983 |
| 31 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.51382824 |
| 32 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.45105503 |
| 33 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.37229305 |
| 34 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.37229305 |
| 35 | LUZP1_20508642_ChIP-Seq_ESCs_Mouse | 1.35099403 |
| 36 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.34988389 |
| 37 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 1.34823985 |
| 38 | FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.32962022 |
| 39 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.32200379 |
| 40 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.31939351 |
| 41 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.28639562 |
| 42 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 1.27886008 |
| 43 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.27759761 |
| 44 | GATA3_21867929_ChIP-Seq_TH1_Mouse | 1.27129689 |
| 45 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.26212067 |
| 46 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.25724317 |
| 47 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.24611438 |
| 48 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.24026082 |
| 49 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.21549274 |
| 50 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.20739656 |
| 51 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.20354583 |
| 52 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.18648317 |
| 53 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 1.16077166 |
| 54 | CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.15391573 |
| 55 | PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 1.15048398 |
| 56 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.12784742 |
| 57 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.12784742 |
| 58 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.11400676 |
| 59 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.11292911 |
| 60 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 1.10588375 |
| 61 | SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.09764393 |
| 62 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.09688321 |
| 63 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.08490004 |
| 64 | CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.07625755 |
| 65 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.06999624 |
| 66 | SPI1_26923725_Chip-Seq_HPCs_Mouse | 1.06876723 |
| 67 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.05908553 |
| 68 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.03895504 |
| 69 | MYC_27129775_Chip-Seq_CORNEA_Mouse | 1.02229873 |
| 70 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.01836832 |
| 71 | ESET_19884257_ChIP-Seq_ESCs_Mouse | 1.01792208 |
| 72 | RCOR3_21632747_ChIP-Seq_MESCs_Mouse | 1.01490478 |
| 73 | RXRA_24833708_ChIP-Seq_LIVER_Mouse | 1.01359865 |
| 74 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.00847466 |
| 75 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 1.00685757 |
| 76 | P53_22387025_ChIP-Seq_ESCs_Mouse | 0.99522693 |
| 77 | OCT4_18555785_Chip-Seq_ESCs_Mouse | 0.98264118 |
| 78 | GATA1_19941827_ChIP-Seq_MEL86_Mouse | 0.97725159 |
| 79 | RNF2_27304074_Chip-Seq_NSC_Mouse | 0.97629783 |
| 80 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 0.97467707 |
| 81 | PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 0.97063612 |
| 82 | RARA_24833708_ChIP-Seq_LIVER_Mouse | 0.97060587 |
| 83 | JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse | 0.96607679 |
| 84 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 0.96441040 |
| 85 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 0.96271499 |
| 86 | LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse | 0.96263174 |
| 87 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 0.95141682 |
| 88 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 0.94686077 |
| 89 | SOX9_26525672_Chip-Seq_HEART_Mouse | 0.94038274 |
| 90 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 0.92516009 |
| 91 | P300_18555785_Chip-Seq_ESCs_Mouse | 0.91083870 |
| 92 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 0.90709607 |
| 93 | KLF4_18555785_Chip-Seq_ESCs_Mouse | 0.90524474 |
| 94 | GF1B_26923725_Chip-Seq_HPCs_Mouse | 0.89907842 |
| 95 | SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 0.89703470 |
| 96 | NFYB_21822215_ChIP-Seq_K562_Human | 0.89035149 |
| 97 | FLI1_21867929_ChIP-Seq_CD8_Mouse | 0.88876785 |
| 98 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 0.88843887 |
| 99 | PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse | 0.87800320 |
| 100 | SOX11_22085726_ChIP-Seq_ESNs_Mouse | 0.87270679 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 6.07185698 |
| 2 | MP0001929_abnormal_gametogenesis | 5.54401276 |
| 3 | MP0008877_abnormal_DNA_methylation | 4.15553098 |
| 4 | MP0002210_abnormal_sex_determination | 3.35418572 |
| 5 | MP0002161_abnormal_fertility/fecundity | 3.29178124 |
| 6 | MP0005670_abnormal_white_adipose | 2.96340105 |
| 7 | MP0001145_abnormal_male_reproductive | 2.83930898 |
| 8 | MP0000653_abnormal_sex_gland | 2.45700674 |
| 9 | MP0002653_abnormal_ependyma_morphology | 2.20305127 |
| 10 | MP0005410_abnormal_fertilization | 16.6125086 |
| 11 | MP0002160_abnormal_reproductive_system | 1.66105261 |
| 12 | MP0004233_abnormal_muscle_weight | 1.56885339 |
| 13 | MP0003646_muscle_fatigue | 1.33931707 |
| 14 | MP0005623_abnormal_meninges_morphology | 1.24485645 |
| 15 | MP0002234_abnormal_pharynx_morphology | 1.24163987 |
| 16 | MP0002282_abnormal_trachea_morphology | 1.19600161 |
| 17 | MP0001765_abnormal_ion_homeostasis | 1.13806581 |
| 18 | MP0001984_abnormal_olfaction | 1.10776353 |
| 19 | MP0009046_muscle_twitch | 0.90676428 |
| 20 | MP0005647_abnormal_sex_gland | 0.88800866 |
| 21 | MP0005389_reproductive_system_phenotype | 0.78978785 |
| 22 | MP0008058_abnormal_DNA_repair | 0.77538167 |
| 23 | MP0003011_delayed_dark_adaptation | 0.75287602 |
| 24 | MP0008995_early_reproductive_senescence | 0.72829461 |
| 25 | MP0003115_abnormal_respiratory_system | 0.69276267 |
| 26 | MP0005636_abnormal_mineral_homeostasis | 0.63563338 |
| 27 | MP0003329_amyloid_beta_deposits | 0.60814957 |
| 28 | MP0005666_abnormal_adipose_tissue | 0.56009882 |
| 29 | MP0002102_abnormal_ear_morphology | 0.49252601 |
| 30 | MP0001324_abnormal_eye_pigmentation | 0.48531467 |
| 31 | MP0002269_muscular_atrophy | 0.48433989 |
| 32 | MP0003878_abnormal_ear_physiology | 0.45744107 |
| 33 | MP0005377_hearing/vestibular/ear_phenot | 0.45744107 |
| 34 | MP0005551_abnormal_eye_electrophysiolog | 0.45616843 |
| 35 | MP0001764_abnormal_homeostasis | 0.44995016 |
| 36 | MP0004036_abnormal_muscle_relaxation | 0.44179837 |
| 37 | MP0003699_abnormal_female_reproductive | 0.43586389 |
| 38 | MP0002736_abnormal_nociception_after | 0.42918433 |
| 39 | MP0002928_abnormal_bile_duct | 0.41635867 |
| 40 | MP0000358_abnormal_cell_content/ | 0.41409789 |
| 41 | MP0005253_abnormal_eye_physiology | 0.41119513 |
| 42 | MP0010094_abnormal_chromosome_stability | 0.40573902 |
| 43 | MP0001293_anophthalmia | 0.39204823 |
| 44 | MP0006036_abnormal_mitochondrial_physio | 0.36356228 |
| 45 | MP0000534_abnormal_ureter_morphology | 0.34949878 |
| 46 | MP0003633_abnormal_nervous_system | 0.34365204 |
| 47 | MP0002139_abnormal_hepatobiliary_system | 0.34326765 |
| 48 | MP0005397_hematopoietic_system_phenotyp | 0.31912825 |
| 49 | MP0001545_abnormal_hematopoietic_system | 0.31912825 |
| 50 | MP0005391_vision/eye_phenotype | 0.31422750 |
| 51 | MP0009115_abnormal_fat_cell | 0.31359764 |
| 52 | MP0001968_abnormal_touch/_nociception | 0.30417626 |
| 53 | MP0002971_abnormal_brown_adipose | 0.30364141 |
| 54 | MP0000604_amyloidosis | 0.29945169 |
| 55 | MP0004811_abnormal_neuron_physiology | 0.29920590 |
| 56 | MP0004019_abnormal_vitamin_homeostasis | 0.29836523 |
| 57 | MP0003183_abnormal_peptide_metabolism | 0.28598728 |
| 58 | MP0004133_heterotaxia | 0.27736521 |
| 59 | MP0003942_abnormal_urinary_system | 0.26702141 |
| 60 | MP0003631_nervous_system_phenotype | 0.26141134 |
| 61 | MP0003787_abnormal_imprinting | 0.25683610 |
| 62 | MP0008057_abnormal_DNA_replication | 0.24087851 |
| 63 | MP0003861_abnormal_nervous_system | 0.24031745 |
| 64 | MP0000569_abnormal_digit_pigmentation | 0.23845717 |
| 65 | MP0002152_abnormal_brain_morphology | 0.23755551 |
| 66 | MP0004270_analgesia | 0.23529292 |
| 67 | MP0009278_abnormal_bone_marrow | 0.23443605 |
| 68 | MP0001119_abnormal_female_reproductive | 0.22771608 |
| 69 | MP0003948_abnormal_gas_homeostasis | 0.22415204 |
| 70 | MP0003879_abnormal_hair_cell | 0.22256446 |
| 71 | MP0002169_no_abnormal_phenotype | 0.21975670 |
| 72 | MP0002873_normal_phenotype | 0.21718954 |
| 73 | MP0003786_premature_aging | 0.21311644 |
| 74 | MP0003111_abnormal_nucleus_morphology | 0.20606091 |
| 75 | MP0000462_abnormal_digestive_system | 0.19724434 |
| 76 | MP0001730_embryonic_growth_arrest | 0.18491208 |
| 77 | MP0004043_abnormal_pH_regulation | 0.18442773 |
| 78 | MP0004742_abnormal_vestibular_system | 0.18252512 |
| 79 | MP0008875_abnormal_xenobiotic_pharmacok | 0.18027253 |
| 80 | MP0003959_abnormal_lean_body | 0.17806309 |
| 81 | MP0005375_adipose_tissue_phenotype | 0.17676810 |
| 82 | MP0005365_abnormal_bile_salt | 0.17533996 |
| 83 | MP0010307_abnormal_tumor_latency | 0.17408900 |
| 84 | MP0006035_abnormal_mitochondrial_morpho | 0.17007074 |
| 85 | MP0003950_abnormal_plasma_membrane | 0.16832269 |
| 86 | MP0002092_abnormal_eye_morphology | 0.16533366 |
| 87 | MP0005423_abnormal_somatic_nervous | 0.16027739 |
| 88 | MP0002295_abnormal_pulmonary_circulatio | 0.15414067 |
| 89 | MP0003283_abnormal_digestive_organ | 0.15342252 |
| 90 | MP0002572_abnormal_emotion/affect_behav | 0.15302525 |
| 91 | MP0002229_neurodegeneration | 0.15167201 |
| 92 | MP0008569_lethality_at_weaning | 0.15014623 |
| 93 | MP0002909_abnormal_adrenal_gland | 0.14165167 |
| 94 | MP0008007_abnormal_cellular_replicative | 0.13930696 |
| 95 | MP0001270_distended_abdomen | 0.13839209 |
| 96 | MP0006072_abnormal_retinal_apoptosis | 0.13741592 |
| 97 | MP0001529_abnormal_vocalization | 0.13597364 |
| 98 | MP0002693_abnormal_pancreas_physiology | 0.13592932 |
| 99 | MP0005195_abnormal_posterior_eye | 0.13313232 |
| 100 | MP0000001_mammalian_phenotype | 0.12969294 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal respiratory motile cilium physiology (HP:0012261) | 9.49058775 |
| 2 | Abnormal respiratory epithelium morphology (HP:0012253) | 9.45916052 |
| 3 | Abnormal respiratory motile cilium morphology (HP:0005938) | 9.45916052 |
| 4 | Abnormal ciliary motility (HP:0012262) | 7.57955543 |
| 5 | Rhinitis (HP:0012384) | 7.53356610 |
| 6 | Chronic bronchitis (HP:0004469) | 7.50319335 |
| 7 | Infertility (HP:0000789) | 6.90087759 |
| 8 | Nasal polyposis (HP:0100582) | 6.32497131 |
| 9 | Abnormality of the nasal mucosa (HP:0000433) | 5.18968608 |
| 10 | Male infertility (HP:0003251) | 4.49945386 |
| 11 | Bronchitis (HP:0012387) | 4.47378499 |
| 12 | Bronchiectasis (HP:0002110) | 4.38804645 |
| 13 | Nephronophthisis (HP:0000090) | 3.98837833 |
| 14 | Abnormal spermatogenesis (HP:0008669) | 3.51893536 |
| 15 | Recurrent sinusitis (HP:0011108) | 3.39191002 |
| 16 | Recurrent otitis media (HP:0000403) | 3.20945966 |
| 17 | Abnormality of the renal medulla (HP:0100957) | 2.98647620 |
| 18 | Medial flaring of the eyebrow (HP:0010747) | 2.69158803 |
| 19 | Impulsivity (HP:0100710) | 2.56808851 |
| 20 | Molar tooth sign on MRI (HP:0002419) | 2.53984752 |
| 21 | Abnormality of midbrain morphology (HP:0002418) | 2.53984752 |
| 22 | Tubulointerstitial nephritis (HP:0001970) | 2.51475950 |
| 23 | Recurrent bronchitis (HP:0002837) | 2.45417941 |
| 24 | Tubular atrophy (HP:0000092) | 2.42343197 |
| 25 | Azoospermia (HP:0000027) | 2.28156431 |
| 26 | Gonadotropin excess (HP:0000837) | 2.26725232 |
| 27 | Tubulointerstitial abnormality (HP:0001969) | 2.18147081 |
| 28 | Cholecystitis (HP:0001082) | 2.14820387 |
| 29 | Abnormal gallbladder physiology (HP:0012438) | 2.14820387 |
| 30 | Dyschromatopsia (HP:0007641) | 2.02323499 |
| 31 | Absent/shortened dynein arms (HP:0200106) | 13.7447433 |
| 32 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 13.7447433 |
| 33 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 13.0552422 |
| 34 | Choroideremia (HP:0001139) | 1.83021535 |
| 35 | Spastic tetraparesis (HP:0001285) | 1.81325620 |
| 36 | Tubulointerstitial fibrosis (HP:0005576) | 1.78101997 |
| 37 | Decreased central vision (HP:0007663) | 1.77464273 |
| 38 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.74988624 |
| 39 | Postaxial foot polydactyly (HP:0001830) | 1.73840338 |
| 40 | Stage 5 chronic kidney disease (HP:0003774) | 1.69138551 |
| 41 | Abnormal biliary tract physiology (HP:0012439) | 1.68466765 |
| 42 | Bile duct proliferation (HP:0001408) | 1.68466765 |
| 43 | Abnormal drinking behavior (HP:0030082) | 1.68347377 |
| 44 | Polydipsia (HP:0001959) | 1.68347377 |
| 45 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.65787550 |
| 46 | Congenital primary aphakia (HP:0007707) | 1.63724681 |
| 47 | Gait imbalance (HP:0002141) | 1.63515583 |
| 48 | Neurofibrillary tangles (HP:0002185) | 1.63029182 |
| 49 | Congenital hepatic fibrosis (HP:0002612) | 1.60696785 |
| 50 | Abnormality of renal excretion (HP:0011036) | 1.60216675 |
| 51 | Heterotopia (HP:0002282) | 1.55070962 |
| 52 | Abnormality of the renal cortex (HP:0011035) | 1.55002131 |
| 53 | Hemorrhage of the eye (HP:0011885) | 1.54237349 |
| 54 | Congenital malformation of the right heart (HP:0011723) | 1.52737507 |
| 55 | Double outlet right ventricle (HP:0001719) | 1.52737507 |
| 56 | Postaxial hand polydactyly (HP:0001162) | 1.48564789 |
| 57 | Oculomotor apraxia (HP:0000657) | 1.45893588 |
| 58 | Bell-shaped thorax (HP:0001591) | 1.45251635 |
| 59 | Short ribs (HP:0000773) | 1.43802248 |
| 60 | Chronic sinusitis (HP:0011109) | 1.43472830 |
| 61 | Abnormality of permanent molar morphology (HP:0011071) | 1.43395610 |
| 62 | Abnormality of the dental root (HP:0006486) | 1.43395610 |
| 63 | Taurodontia (HP:0000679) | 1.43395610 |
| 64 | Fibular hypoplasia (HP:0003038) | 1.42958805 |
| 65 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 1.42426526 |
| 66 | Renal dysplasia (HP:0000110) | 1.41910302 |
| 67 | Nephrogenic diabetes insipidus (HP:0009806) | 1.40792166 |
| 68 | Easy fatigability (HP:0003388) | 1.38725994 |
| 69 | Facial cleft (HP:0002006) | 1.37660501 |
| 70 | Absent epiphyses (HP:0010577) | 1.37360128 |
| 71 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.37360128 |
| 72 | Abnormality of the dental pulp (HP:0006479) | 1.34482366 |
| 73 | Abnormality of the lower motor neuron (HP:0002366) | 1.33383575 |
| 74 | Abnormality of molar morphology (HP:0011070) | 1.32835443 |
| 75 | Abnormality of molar (HP:0011077) | 1.32835443 |
| 76 | Amyotrophic lateral sclerosis (HP:0007354) | 1.32817226 |
| 77 | Cerebellar dysplasia (HP:0007033) | 1.32665679 |
| 78 | Cerebral inclusion bodies (HP:0100314) | 1.31615248 |
| 79 | Asymmetric septal hypertrophy (HP:0001670) | 1.31579069 |
| 80 | Sensory axonal neuropathy (HP:0003390) | 1.31455907 |
| 81 | Vaginal atresia (HP:0000148) | 1.30294783 |
| 82 | Abnormal urine output (HP:0012590) | 1.29616965 |
| 83 | Fatigable weakness (HP:0003473) | 1.29453420 |
| 84 | Abnormality of the neuromuscular junction (HP:0003398) | 1.29453420 |
| 85 | Deformed sella turcica (HP:0002681) | 1.28789255 |
| 86 | Genital tract atresia (HP:0001827) | 1.27541444 |
| 87 | Cystic liver disease (HP:0006706) | 1.25903692 |
| 88 | Abnormality of dentin (HP:0010299) | 1.25546982 |
| 89 | Bundle branch block (HP:0011710) | 1.25343973 |
| 90 | Exercise-induced myalgia (HP:0003738) | 1.25006416 |
| 91 | Poor coordination (HP:0002370) | 1.21707835 |
| 92 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 1.21533147 |
| 93 | Hemiparesis (HP:0001269) | 1.20797510 |
| 94 | Constricted visual fields (HP:0001133) | 1.20706844 |
| 95 | Retinal dysplasia (HP:0007973) | 1.19893855 |
| 96 | Pancreatic fibrosis (HP:0100732) | 1.17597498 |
| 97 | Abnormality of saccadic eye movements (HP:0000570) | 1.17515422 |
| 98 | Supernumerary spleens (HP:0009799) | 1.15351285 |
| 99 | Nephropathy (HP:0000112) | 1.14155811 |
| 100 | Myoglobinuria (HP:0002913) | 1.13629661 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK3 | 8.29631590 |
| 2 | PDK4 | 8.29631590 |
| 3 | TESK1 | 6.20009945 |
| 4 | PDK2 | 5.35177296 |
| 5 | PRKD3 | 4.97155637 |
| 6 | ICK | 4.49270084 |
| 7 | WNK4 | 2.22341011 |
| 8 | PTK2B | 2.21744250 |
| 9 | STK39 | 2.07798513 |
| 10 | STK38 | 1.75523029 |
| 11 | PNCK | 1.67433170 |
| 12 | NEK2 | 1.55433578 |
| 13 | DYRK1B | 1.54360167 |
| 14 | PDK1 | 1.22771114 |
| 15 | MAPK15 | 1.02825021 |
| 16 | IRAK1 | 0.91566291 |
| 17 | DYRK3 | 0.89052681 |
| 18 | TYRO3 | 0.86901498 |
| 19 | WNK1 | 0.83685166 |
| 20 | PASK | 0.80532879 |
| 21 | PDPK1 | 0.76361135 |
| 22 | CCNB1 | 0.70834142 |
| 23 | RIPK4 | 0.70154482 |
| 24 | TESK2 | 0.67388839 |
| 25 | CHEK2 | 0.59450192 |
| 26 | MAP2K6 | 0.57749722 |
| 27 | STK3 | 0.55588802 |
| 28 | TTK | 0.54642274 |
| 29 | PINK1 | 0.53953986 |
| 30 | LMTK2 | 0.44478638 |
| 31 | IRAK2 | 0.44262168 |
| 32 | EEF2K | 0.43235093 |
| 33 | MUSK | 0.43063228 |
| 34 | PAK1 | 0.42620545 |
| 35 | NTRK2 | 0.39889868 |
| 36 | PLK4 | 0.39587556 |
| 37 | CAMK1G | 0.39044487 |
| 38 | PRKCG | 0.38213740 |
| 39 | MAP3K10 | 0.35884035 |
| 40 | STK38L | 0.34806789 |
| 41 | CHEK1 | 0.34488437 |
| 42 | PAK2 | 0.24832292 |
| 43 | ATM | 0.23847632 |
| 44 | MARK2 | 0.23227287 |
| 45 | CAMKK1 | 0.22492824 |
| 46 | MTOR | 0.21907797 |
| 47 | ATR | 0.20109424 |
| 48 | PAK4 | 0.19515641 |
| 49 | BRSK2 | 0.19376444 |
| 50 | NEK6 | 0.19224411 |
| 51 | MAPKAPK5 | 0.17981467 |
| 52 | WEE1 | 0.17764841 |
| 53 | PRKAA1 | 0.17140007 |
| 54 | PRKCZ | 0.16748639 |
| 55 | CDK15 | 0.16238013 |
| 56 | CDK18 | 0.13850350 |
| 57 | YES1 | 0.13441763 |
| 58 | CDK12 | 0.13182170 |
| 59 | BRAF | 0.13160506 |
| 60 | PRKG2 | 0.12956126 |
| 61 | RPS6KB1 | 0.12858199 |
| 62 | PRKCQ | 0.12400018 |
| 63 | CDK11A | 0.11709146 |
| 64 | PKN1 | 0.10573296 |
| 65 | PIK3CG | 0.10362106 |
| 66 | PLK1 | 0.09231896 |
| 67 | CDK14 | 0.08223847 |
| 68 | PRKG1 | 0.07383228 |
| 69 | BRSK1 | 0.06848504 |
| 70 | WNK3 | 0.06841798 |
| 71 | CSNK2A1 | 0.06294773 |
| 72 | RPS6KA1 | 0.06162457 |
| 73 | CSF1R | 0.05242890 |
| 74 | PRKACG | 0.05200623 |
| 75 | MARK3 | 0.05156196 |
| 76 | CAMK2A | 0.05061417 |
| 77 | GSK3B | 0.04820454 |
| 78 | CDC7 | 0.03818887 |
| 79 | CSNK1D | 0.03368251 |
| 80 | CASK | 0.03202473 |
| 81 | PRKCD | 0.02570346 |
| 82 | PRKCB | 0.01737924 |
| 83 | EPHB1 | 0.01683309 |
| 84 | STK10 | 0.01464043 |
| 85 | PAK6 | 0.01452798 |
| 86 | CDK6 | 0.01273944 |
| 87 | PRKCA | 0.01077408 |
| 88 | CSNK2A2 | 0.00885795 |
| 89 | MAP3K1 | 0.00716856 |
| 90 | STK11 | 0.00511506 |
| 91 | CDK1 | 0.00287134 |
| 92 | PRKACB | -0.0343637 |
| 93 | RPS6KA3 | -0.0308508 |
| 94 | PRKACA | -0.0171842 |
| 95 | CLK1 | -0.0126757 |
| 96 | MST1R | -0.0120488 |
| 97 | AURKA | -0.0111793 |
| 98 | EGFR | -0.0105941 |
| 99 | CDK2 | -0.0091083 |
| 100 | MAPK8 | -0.0003597 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 4.49959203 |
| 2 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 4.41307895 |
| 3 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 3.95313387 |
| 4 | Pyruvate metabolism_Homo sapiens_hsa00620 | 3.63116044 |
| 5 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 3.14238408 |
| 6 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 3.03737726 |
| 7 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.85575735 |
| 8 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 2.68400294 |
| 9 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 2.54539857 |
| 10 | Basal transcription factors_Homo sapiens_hsa03022 | 2.29963362 |
| 11 | Selenocompound metabolism_Homo sapiens_hsa00450 | 2.19301576 |
| 12 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 2.19097175 |
| 13 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.97776567 |
| 14 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.96544699 |
| 15 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.88830407 |
| 16 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.88290703 |
| 17 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.72969862 |
| 18 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.70200480 |
| 19 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.68405765 |
| 20 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.64255451 |
| 21 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.62507835 |
| 22 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.62405138 |
| 23 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.47090907 |
| 24 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.44751436 |
| 25 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.43897293 |
| 26 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.43531319 |
| 27 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.41705563 |
| 28 | Mineral absorption_Homo sapiens_hsa04978 | 1.41405346 |
| 29 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.40782622 |
| 30 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.39597974 |
| 31 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.32002368 |
| 32 | Carbon metabolism_Homo sapiens_hsa01200 | 1.31380978 |
| 33 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.29500239 |
| 34 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.27329192 |
| 35 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.27282606 |
| 36 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.20561391 |
| 37 | Renin secretion_Homo sapiens_hsa04924 | 1.19229001 |
| 38 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.11886651 |
| 39 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.08325506 |
| 40 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.07586999 |
| 41 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.00987683 |
| 42 | Purine metabolism_Homo sapiens_hsa00230 | 0.99989197 |
| 43 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.99067850 |
| 44 | Huntingtons disease_Homo sapiens_hsa05016 | 0.97980836 |
| 45 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.91204243 |
| 46 | Insulin secretion_Homo sapiens_hsa04911 | 0.89423987 |
| 47 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.86794248 |
| 48 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.85020876 |
| 49 | Long-term potentiation_Homo sapiens_hsa04720 | 0.84173814 |
| 50 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.82547288 |
| 51 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.80919214 |
| 52 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.79875670 |
| 53 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.71114870 |
| 54 | Bile secretion_Homo sapiens_hsa04976 | 0.70992684 |
| 55 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.70766901 |
| 56 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.68940828 |
| 57 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.68932501 |
| 58 | RNA transport_Homo sapiens_hsa03013 | 0.67631846 |
| 59 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.58309353 |
| 60 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.56984612 |
| 61 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.56308249 |
| 62 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.55255516 |
| 63 | Salivary secretion_Homo sapiens_hsa04970 | 0.54472569 |
| 64 | ABC transporters_Homo sapiens_hsa02010 | 0.54347983 |
| 65 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.53444730 |
| 66 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.52744239 |
| 67 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.50855205 |
| 68 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.50099643 |
| 69 | Legionellosis_Homo sapiens_hsa05134 | 0.48466176 |
| 70 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.47818398 |
| 71 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.47205191 |
| 72 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.46064398 |
| 73 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.43837413 |
| 74 | Metabolic pathways_Homo sapiens_hsa01100 | 0.41876391 |
| 75 | Taste transduction_Homo sapiens_hsa04742 | 0.40247335 |
| 76 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.40178751 |
| 77 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.38962741 |
| 78 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.37837722 |
| 79 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.37496496 |
| 80 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.37327347 |
| 81 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.37309080 |
| 82 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.37120185 |
| 83 | Endocytosis_Homo sapiens_hsa04144 | 0.35752378 |
| 84 | Circadian entrainment_Homo sapiens_hsa04713 | 0.35470593 |
| 85 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.34541588 |
| 86 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.34223217 |
| 87 | Cocaine addiction_Homo sapiens_hsa05030 | 0.32907450 |
| 88 | Alcoholism_Homo sapiens_hsa05034 | 0.31209090 |
| 89 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.30849719 |
| 90 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.28820214 |
| 91 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.28303396 |
| 92 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.26780460 |
| 93 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.20286829 |
| 94 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.17340622 |
| 95 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.16458359 |
| 96 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.12813150 |
| 97 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.11103463 |
| 98 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.10426985 |
| 99 | Retinol metabolism_Homo sapiens_hsa00830 | 0.04234944 |
| 100 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.03425701 |

