

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | * cell-cell recognition (GO:0009988) | 9.82856305 |
| 2 | epithelial cilium movement (GO:0003351) | 9.73116112 |
| 3 | * plasma membrane fusion (GO:0045026) | 9.71202575 |
| 4 | axonemal dynein complex assembly (GO:0070286) | 9.65937650 |
| 5 | * reproduction (GO:0000003) | 9.62013176 |
| 6 | * binding of sperm to zona pellucida (GO:0007339) | 9.59645881 |
| 7 | motile cilium assembly (GO:0044458) | 8.97620649 |
| 8 | spermatid development (GO:0007286) | 8.79307685 |
| 9 | piRNA metabolic process (GO:0034587) | 8.54093911 |
| 10 | male meiosis (GO:0007140) | 8.15411414 |
| 11 | cilium movement (GO:0003341) | 8.04493314 |
| 12 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 7.67862735 |
| 13 | * single fertilization (GO:0007338) | 7.54052483 |
| 14 | regulation of cilium movement (GO:0003352) | 7.41227338 |
| 15 | synaptonemal complex assembly (GO:0007130) | 7.17808870 |
| 16 | synaptonemal complex organization (GO:0070193) | 7.17643621 |
| 17 | sperm capacitation (GO:0048240) | 6.77073967 |
| 18 | * fertilization (GO:0009566) | 6.44467437 |
| 19 | microtubule depolymerization (GO:0007019) | 6.44137856 |
| 20 | spermatogenesis (GO:0007283) | 6.16872300 |
| 21 | male gamete generation (GO:0048232) | 6.14808766 |
| 22 | gamete generation (GO:0007276) | 5.79852458 |
| 23 | DNA methylation involved in gamete generation (GO:0043046) | 5.57264364 |
| 24 | negative regulation of inclusion body assembly (GO:0090084) | 5.39399913 |
| 25 | * cellular process involved in reproduction in multicellular organism (GO:0022412) | 5.14816156 |
| 26 | organic cation transport (GO:0015695) | 5.11374361 |
| 27 | germ cell development (GO:0007281) | 5.11046406 |
| 28 | male meiosis I (GO:0007141) | 5.05952094 |
| 29 | microtubule severing (GO:0051013) | 5.04086257 |
| 30 | chromosome organization involved in meiosis (GO:0070192) | 5.03088212 |
| 31 | calcium ion-dependent exocytosis (GO:0017156) | 4.90832346 |
| 32 | spermatid nucleus differentiation (GO:0007289) | 4.89229662 |
| 33 | monoubiquitinated protein deubiquitination (GO:0035520) | 4.86709843 |
| 34 | ventricular system development (GO:0021591) | 4.80949375 |
| 35 | meiotic nuclear division (GO:0007126) | 4.75556978 |
| 36 | * cell recognition (GO:0008037) | 4.66928973 |
| 37 | regulation of inclusion body assembly (GO:0090083) | 4.57731583 |
| 38 | multicellular organismal reproductive process (GO:0048609) | 4.56296439 |
| 39 | glycerol ether metabolic process (GO:0006662) | 4.33173994 |
| 40 | meiotic cell cycle (GO:0051321) | 4.29670991 |
| 41 | regulation of microtubule-based movement (GO:0060632) | 4.24949038 |
| 42 | meiosis I (GO:0007127) | 4.13958557 |
| 43 | seminiferous tubule development (GO:0072520) | 4.09047260 |
| 44 | ether metabolic process (GO:0018904) | 3.99717222 |
| 45 | chromosome condensation (GO:0030261) | 3.92721337 |
| 46 | centriole assembly (GO:0098534) | 3.66606500 |
| 47 | protein K11-linked deubiquitination (GO:0035871) | 3.66202789 |
| 48 | microtubule polymerization or depolymerization (GO:0031109) | 3.66085274 |
| 49 | DNA packaging (GO:0006323) | 3.61967352 |
| 50 | centriole replication (GO:0007099) | 3.60288429 |
| 51 | single strand break repair (GO:0000012) | 3.60135317 |
| 52 | protein polyglutamylation (GO:0018095) | 3.56553055 |
| 53 | multicellular organismal development (GO:0007275) | 3.54729920 |
| 54 | genitalia morphogenesis (GO:0035112) | 3.53330472 |
| 55 | chaperone-mediated protein complex assembly (GO:0051131) | 3.39069180 |
| 56 | left/right pattern formation (GO:0060972) | 3.38330397 |
| 57 | regulation of spindle checkpoint (GO:0090231) | 3.29083708 |
| 58 | meiotic cell cycle process (GO:1903046) | 3.27449749 |
| 59 | gene silencing by RNA (GO:0031047) | 3.26007032 |
| 60 | protein localization to cilium (GO:0061512) | 3.20741056 |
| 61 | sequestering of actin monomers (GO:0042989) | 3.15150356 |
| 62 | regulation of centriole replication (GO:0046599) | 3.14764645 |
| 63 | mitotic sister chromatid cohesion (GO:0007064) | 3.09938728 |
| 64 | polyol catabolic process (GO:0046174) | 3.05420359 |
| 65 | regulation of meiosis I (GO:0060631) | 3.03682451 |
| 66 | cilium organization (GO:0044782) | 3.02476895 |
| 67 | alditol metabolic process (GO:0019400) | 3.01858744 |
| 68 | lactate metabolic process (GO:0006089) | 2.98657105 |
| 69 | synapsis (GO:0007129) | 2.97306500 |
| 70 | cilium morphogenesis (GO:0060271) | 2.95219683 |
| 71 | cilium assembly (GO:0042384) | 2.93197489 |
| 72 | intraciliary transport (GO:0042073) | 2.91433265 |
| 73 | microtubule-based movement (GO:0007018) | 2.91082294 |
| 74 | cellular component assembly involved in morphogenesis (GO:0010927) | 2.88248429 |
| 75 | sexual reproduction (GO:0019953) | 2.85619882 |
| 76 | histone exchange (GO:0043486) | 2.81840479 |
| 77 | amino-acid betaine transport (GO:0015838) | 2.79827348 |
| 78 | carnitine transport (GO:0015879) | 2.79827348 |
| 79 | nucleoside diphosphate phosphorylation (GO:0006165) | 2.79102739 |
| 80 | negative regulation of organelle assembly (GO:1902116) | 2.78702590 |
| 81 | nucleus organization (GO:0006997) | 2.77743797 |
| 82 | sister chromatid cohesion (GO:0007062) | 2.76326859 |
| 83 | glycerol metabolic process (GO:0006071) | 2.73240538 |
| 84 | GTP biosynthetic process (GO:0006183) | 2.70178334 |
| 85 | protein localization to chromosome, centromeric region (GO:0071459) | 2.69615979 |
| 86 | glycolytic process (GO:0006096) | 2.66912052 |
| 87 | carnitine transmembrane transport (GO:1902603) | 2.64608559 |
| 88 | axoneme assembly (GO:0035082) | 2.63538995 |
| 89 | nuclear pore complex assembly (GO:0051292) | 2.59597773 |
| 90 | regulation of acrosome reaction (GO:0060046) | 2.51865137 |
| 91 | regulation of cilium assembly (GO:1902017) | 2.51544930 |
| 92 | cell wall macromolecule metabolic process (GO:0044036) | 13.9706048 |
| 93 | cell wall macromolecule catabolic process (GO:0016998) | 13.9706048 |
| 94 | * fusion of sperm to egg plasma membrane (GO:0007342) | 13.1229794 |
| 95 | acrosome assembly (GO:0001675) | 12.0937067 |
| 96 | sperm motility (GO:0030317) | 12.0432553 |
| 97 | * multicellular organism reproduction (GO:0032504) | 11.6493116 |
| 98 | * sperm-egg recognition (GO:0035036) | 11.0368152 |
| 99 | cilium or flagellum-dependent cell motility (GO:0001539) | 10.7000732 |
| 100 | acrosome reaction (GO:0007340) | 10.1776056 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 9.13001371 |
| 2 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 4.82999403 |
| 3 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 3.51719777 |
| 4 | EZH2_22144423_ChIP-Seq_EOC_Human | 3.42804262 |
| 5 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.81851904 |
| 6 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.81691474 |
| 7 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.54071575 |
| 8 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.49712645 |
| 9 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.45277431 |
| 10 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 2.41540727 |
| 11 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 2.37455444 |
| 12 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 2.08448927 |
| 13 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 2.03844663 |
| 14 | VDR_22108803_ChIP-Seq_LS180_Human | 1.98286056 |
| 15 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.96600635 |
| 16 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.96455292 |
| 17 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.95940708 |
| 18 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.93003619 |
| 19 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.91034189 |
| 20 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.90242557 |
| 21 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.88217906 |
| 22 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.86635781 |
| 23 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.82171446 |
| 24 | KDM2B_26808549_Chip-Seq_REH_Human | 1.72360970 |
| 25 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.69651487 |
| 26 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.69629206 |
| 27 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.68185524 |
| 28 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.68074143 |
| 29 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.65057660 |
| 30 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.65037983 |
| 31 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.63154969 |
| 32 | GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.61998517 |
| 33 | * TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.61855002 |
| 34 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.60915792 |
| 35 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.48219966 |
| 36 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.45207796 |
| 37 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.43967726 |
| 38 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.43846457 |
| 39 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.41704598 |
| 40 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.41036729 |
| 41 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.39934077 |
| 42 | GATA3_21867929_ChIP-Seq_TH1_Mouse | 1.39548139 |
| 43 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.38787817 |
| 44 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 1.37607309 |
| 45 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.37010844 |
| 46 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.34648224 |
| 47 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.32587534 |
| 48 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.32545827 |
| 49 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.31817396 |
| 50 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.30700361 |
| 51 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.30700361 |
| 52 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.30171236 |
| 53 | OCT4_18555785_Chip-Seq_ESCs_Mouse | 1.30136863 |
| 54 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 1.28688996 |
| 55 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.26003880 |
| 56 | P53_22387025_ChIP-Seq_ESCs_Mouse | 1.25884860 |
| 57 | EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 1.23959805 |
| 58 | LUZP1_20508642_ChIP-Seq_ESCs_Mouse | 1.23580398 |
| 59 | KLF4_18555785_Chip-Seq_ESCs_Mouse | 1.23492128 |
| 60 | P300_18555785_Chip-Seq_ESCs_Mouse | 1.21555909 |
| 61 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.21522701 |
| 62 | CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.20240068 |
| 63 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.19943200 |
| 64 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 1.18604459 |
| 65 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.17093530 |
| 66 | ESRRB_18555785_Chip-Seq_ESCs_Mouse | 1.16755810 |
| 67 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 1.15546877 |
| 68 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 1.15377298 |
| 69 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.15232582 |
| 70 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.15232582 |
| 71 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 1.14604058 |
| 72 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.14218336 |
| 73 | SOX2_18555785_Chip-Seq_ESCs_Mouse | 1.11234059 |
| 74 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.09076165 |
| 75 | CTCF_18555785_Chip-Seq_ESCs_Mouse | 1.07849679 |
| 76 | GF1B_26923725_Chip-Seq_HPCs_Mouse | 1.06915615 |
| 77 | FUS_26573619_Chip-Seq_HEK293_Human | 1.06212064 |
| 78 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 1.04974178 |
| 79 | ESET_19884257_ChIP-Seq_ESCs_Mouse | 1.03396949 |
| 80 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.01660057 |
| 81 | NMYC_18555785_Chip-Seq_ESCs_Mouse | 1.01158366 |
| 82 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.01017210 |
| 83 | E2F1_18555785_Chip-Seq_ESCs_Mouse | 1.00545412 |
| 84 | RUNX1_27457419_Chip-Seq_LIVER_Mouse | 1.00510017 |
| 85 | FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 0.99149230 |
| 86 | PU1_27457419_Chip-Seq_LIVER_Mouse | 0.98367130 |
| 87 | SOX9_26525672_Chip-Seq_HEART_Mouse | 0.97989310 |
| 88 | SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.97625492 |
| 89 | SMAD1_18555785_Chip-Seq_ESCs_Mouse | 0.97363814 |
| 90 | ZFX_18555785_Chip-Seq_ESCs_Mouse | 0.96624828 |
| 91 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 0.96153447 |
| 92 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 0.96146500 |
| 93 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 0.96076375 |
| 94 | SPI1_26923725_Chip-Seq_HPCs_Mouse | 0.95754862 |
| 95 | PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 0.94667061 |
| 96 | STAT3_18555785_ChIP-Seq_MESCs_Mouse | 0.91814351 |
| 97 | NFYB_21822215_ChIP-Seq_K562_Human | 0.91046730 |
| 98 | CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.89656156 |
| 99 | LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse | 0.89633357 |
| 100 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 0.87414457 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | * MP0003698_abnormal_male_reproductive | 5.90603098 |
| 2 | MP0001929_abnormal_gametogenesis | 5.87387826 |
| 3 | MP0008877_abnormal_DNA_methylation | 5.35771812 |
| 4 | MP0002210_abnormal_sex_determination | 3.88650674 |
| 5 | MP0002653_abnormal_ependyma_morphology | 3.50330089 |
| 6 | MP0002161_abnormal_fertility/fecundity | 3.49876048 |
| 7 | MP0001145_abnormal_male_reproductive | 3.22897895 |
| 8 | MP0000653_abnormal_sex_gland | 3.08619482 |
| 9 | MP0003646_muscle_fatigue | 2.25970856 |
| 10 | MP0005670_abnormal_white_adipose | 2.19548904 |
| 11 | * MP0005410_abnormal_fertilization | 14.4784032 |
| 12 | MP0002102_abnormal_ear_morphology | 1.93646251 |
| 13 | MP0004233_abnormal_muscle_weight | 1.65848829 |
| 14 | MP0002160_abnormal_reproductive_system | 1.61860285 |
| 15 | MP0010094_abnormal_chromosome_stability | 1.56284642 |
| 16 | MP0005623_abnormal_meninges_morphology | 1.45931433 |
| 17 | MP0008058_abnormal_DNA_repair | 1.37677343 |
| 18 | MP0002282_abnormal_trachea_morphology | 1.35631087 |
| 19 | MP0005451_abnormal_body_composition | 1.32858510 |
| 20 | MP0005647_abnormal_sex_gland | 1.27696643 |
| 21 | MP0003718_maternal_effect | 1.21596262 |
| 22 | MP0003699_abnormal_female_reproductive | 1.18771067 |
| 23 | MP0008057_abnormal_DNA_replication | 1.14764492 |
| 24 | MP0001765_abnormal_ion_homeostasis | 1.11948040 |
| 25 | MP0001119_abnormal_female_reproductive | 1.11483864 |
| 26 | MP0005389_reproductive_system_phenotype | 1.02256735 |
| 27 | MP0003111_abnormal_nucleus_morphology | 0.97816777 |
| 28 | MP0001984_abnormal_olfaction | 0.90418223 |
| 29 | MP0008995_early_reproductive_senescence | 0.90380726 |
| 30 | MP0009046_muscle_twitch | 0.90361329 |
| 31 | MP0003950_abnormal_plasma_membrane | 0.85981049 |
| 32 | MP0003077_abnormal_cell_cycle | 0.82277892 |
| 33 | MP0003011_delayed_dark_adaptation | 0.69370782 |
| 34 | MP0008007_abnormal_cellular_replicative | 0.67478714 |
| 35 | MP0002234_abnormal_pharynx_morphology | 0.62709794 |
| 36 | MP0003787_abnormal_imprinting | 0.60027831 |
| 37 | MP0003786_premature_aging | 0.55935881 |
| 38 | MP0005636_abnormal_mineral_homeostasis | 0.53638851 |
| 39 | MP0001730_embryonic_growth_arrest | 0.52855410 |
| 40 | MP0005395_other_phenotype | 0.52621020 |
| 41 | MP0003693_abnormal_embryo_hatching | 0.51115814 |
| 42 | MP0002928_abnormal_bile_duct | 0.49239304 |
| 43 | MP0004036_abnormal_muscle_relaxation | 0.48491016 |
| 44 | MP0001529_abnormal_vocalization | 0.46045217 |
| 45 | MP0006072_abnormal_retinal_apoptosis | 0.44803795 |
| 46 | MP0005551_abnormal_eye_electrophysiolog | 0.44486007 |
| 47 | MP0002269_muscular_atrophy | 0.43528997 |
| 48 | MP0010307_abnormal_tumor_latency | 0.41899279 |
| 49 | MP0004957_abnormal_blastocyst_morpholog | 0.41771486 |
| 50 | MP0003115_abnormal_respiratory_system | 0.41711814 |
| 51 | MP0000462_abnormal_digestive_system | 0.40208213 |
| 52 | MP0002084_abnormal_developmental_patter | 0.38502515 |
| 53 | MP0005253_abnormal_eye_physiology | 0.38359183 |
| 54 | MP0008932_abnormal_embryonic_tissue | 0.37075710 |
| 55 | MP0004145_abnormal_muscle_electrophysio | 0.37050351 |
| 56 | MP0002085_abnormal_embryonic_tissue | 0.36995588 |
| 57 | MP0002139_abnormal_hepatobiliary_system | 0.36782555 |
| 58 | MP0003861_abnormal_nervous_system | 0.36603754 |
| 59 | MP0001697_abnormal_embryo_size | 0.35691069 |
| 60 | MP0000358_abnormal_cell_content/ | 0.35597738 |
| 61 | MP0005666_abnormal_adipose_tissue | 0.35262680 |
| 62 | MP0001324_abnormal_eye_pigmentation | 0.34939957 |
| 63 | MP0000579_abnormal_nail_morphology | 0.33941234 |
| 64 | MP0005646_abnormal_pituitary_gland | 0.33323376 |
| 65 | MP0005397_hematopoietic_system_phenotyp | 0.31881263 |
| 66 | MP0001545_abnormal_hematopoietic_system | 0.31881263 |
| 67 | MP0003329_amyloid_beta_deposits | 0.31860290 |
| 68 | MP0003937_abnormal_limbs/digits/tail_de | 0.31233888 |
| 69 | MP0001919_abnormal_reproductive_system | 0.30837805 |
| 70 | MP0002971_abnormal_brown_adipose | 0.30427061 |
| 71 | MP0002736_abnormal_nociception_after | 0.30033430 |
| 72 | MP0001672_abnormal_embryogenesis/_devel | 0.28385164 |
| 73 | MP0005380_embryogenesis_phenotype | 0.28385164 |
| 74 | MP0000427_abnormal_hair_cycle | 0.28260259 |
| 75 | MP0000313_abnormal_cell_death | 0.28112771 |
| 76 | MP0000432_abnormal_head_morphology | 0.27781725 |
| 77 | MP0000569_abnormal_digit_pigmentation | 0.26732049 |
| 78 | MP0005408_hypopigmentation | 0.26630276 |
| 79 | MP0005391_vision/eye_phenotype | 0.26598611 |
| 80 | MP0009115_abnormal_fat_cell | 0.25687615 |
| 81 | MP0001293_anophthalmia | 0.25387709 |
| 82 | MP0004270_analgesia | 0.24261103 |
| 83 | MP0000639_abnormal_adrenal_gland | 0.23943998 |
| 84 | MP0002152_abnormal_brain_morphology | 0.23716738 |
| 85 | MP0006036_abnormal_mitochondrial_physio | 0.23605928 |
| 86 | MP0009697_abnormal_copulation | 0.22658340 |
| 87 | MP0005377_hearing/vestibular/ear_phenot | 0.21730050 |
| 88 | MP0003878_abnormal_ear_physiology | 0.21730050 |
| 89 | MP0002295_abnormal_pulmonary_circulatio | 0.21464350 |
| 90 | MP0000534_abnormal_ureter_morphology | 0.20439510 |
| 91 | MP0005195_abnormal_posterior_eye | 0.20344464 |
| 92 | MP0004133_heterotaxia | 0.20150132 |
| 93 | MP0002169_no_abnormal_phenotype | 0.19992833 |
| 94 | MP0002873_normal_phenotype | 0.19803455 |
| 95 | MP0009250_abnormal_appendicular_skeleto | 0.19581144 |
| 96 | MP0001851_eye_inflammation | 0.19498461 |
| 97 | MP0004019_abnormal_vitamin_homeostasis | 0.19464500 |
| 98 | MP0002109_abnormal_limb_morphology | 0.18516412 |
| 99 | MP0005187_abnormal_penis_morphology | 0.18350104 |
| 100 | MP0003315_abnormal_perineum_morphology | 0.18314907 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal respiratory motile cilium physiology (HP:0012261) | 9.47980165 |
| 2 | Abnormal respiratory motile cilium morphology (HP:0005938) | 8.78753119 |
| 3 | Abnormal respiratory epithelium morphology (HP:0012253) | 8.78753119 |
| 4 | Abnormal ciliary motility (HP:0012262) | 7.75223109 |
| 5 | Rhinitis (HP:0012384) | 7.59957723 |
| 6 | Chronic bronchitis (HP:0004469) | 7.59704081 |
| 7 | Infertility (HP:0000789) | 6.52520121 |
| 8 | Nasal polyposis (HP:0100582) | 5.86888828 |
| 9 | Male infertility (HP:0003251) | 5.21393291 |
| 10 | Abnormality of the nasal mucosa (HP:0000433) | 4.77765894 |
| 11 | Bronchiectasis (HP:0002110) | 4.43478915 |
| 12 | Bronchitis (HP:0012387) | 4.37109228 |
| 13 | Nephronophthisis (HP:0000090) | 4.34771014 |
| 14 | Recurrent sinusitis (HP:0011108) | 3.54888655 |
| 15 | Abnormal spermatogenesis (HP:0008669) | 3.44945018 |
| 16 | Abnormality of the renal medulla (HP:0100957) | 3.32481356 |
| 17 | Medial flaring of the eyebrow (HP:0010747) | 3.15052836 |
| 18 | Recurrent otitis media (HP:0000403) | 3.13699964 |
| 19 | Molar tooth sign on MRI (HP:0002419) | 2.92557749 |
| 20 | Abnormality of midbrain morphology (HP:0002418) | 2.92557749 |
| 21 | Tubulointerstitial nephritis (HP:0001970) | 2.60690485 |
| 22 | Azoospermia (HP:0000027) | 2.54655101 |
| 23 | Gait imbalance (HP:0002141) | 2.27974904 |
| 24 | Tubular atrophy (HP:0000092) | 2.27493899 |
| 25 | Congenital primary aphakia (HP:0007707) | 2.26770939 |
| 26 | Impulsivity (HP:0100710) | 2.23163355 |
| 27 | Recurrent bronchitis (HP:0002837) | 2.22045992 |
| 28 | Tubulointerstitial abnormality (HP:0001969) | 2.18140313 |
| 29 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 13.5493861 |
| 30 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 12.8537054 |
| 31 | Absent/shortened dynein arms (HP:0200106) | 12.8537054 |
| 32 | Nephrogenic diabetes insipidus (HP:0009806) | 1.95512822 |
| 33 | Pancreatic fibrosis (HP:0100732) | 1.94149538 |
| 34 | Gonadotropin excess (HP:0000837) | 1.91645739 |
| 35 | Postaxial foot polydactyly (HP:0001830) | 1.89369733 |
| 36 | Genital tract atresia (HP:0001827) | 1.85762589 |
| 37 | Vaginal atresia (HP:0000148) | 1.83265764 |
| 38 | Abnormal gallbladder physiology (HP:0012438) | 1.82873296 |
| 39 | Cholecystitis (HP:0001082) | 1.82873296 |
| 40 | Stage 5 chronic kidney disease (HP:0003774) | 1.82459175 |
| 41 | Poor coordination (HP:0002370) | 1.80830364 |
| 42 | Supernumerary spleens (HP:0009799) | 1.73833272 |
| 43 | Microglossia (HP:0000171) | 1.73789167 |
| 44 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.71649905 |
| 45 | Congenital hepatic fibrosis (HP:0002612) | 1.71230867 |
| 46 | Papillary thyroid carcinoma (HP:0002895) | 1.70157572 |
| 47 | Tubulointerstitial fibrosis (HP:0005576) | 1.70129728 |
| 48 | Postaxial hand polydactyly (HP:0001162) | 1.66687838 |
| 49 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.65857264 |
| 50 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.62427649 |
| 51 | Abnormality of the renal cortex (HP:0011035) | 1.61183827 |
| 52 | Abnormality of permanent molar morphology (HP:0011071) | 1.60949032 |
| 53 | Abnormality of the dental root (HP:0006486) | 1.60949032 |
| 54 | Taurodontia (HP:0000679) | 1.60949032 |
| 55 | Cystic liver disease (HP:0006706) | 1.60456612 |
| 56 | Heterotopia (HP:0002282) | 1.59117234 |
| 57 | Abnormal biliary tract physiology (HP:0012439) | 1.58630815 |
| 58 | Bile duct proliferation (HP:0001408) | 1.58630815 |
| 59 | Tongue fasciculations (HP:0001308) | 1.52604248 |
| 60 | True hermaphroditism (HP:0010459) | 1.50959207 |
| 61 | Abnormality of molar morphology (HP:0011070) | 1.48842871 |
| 62 | Abnormality of molar (HP:0011077) | 1.48842871 |
| 63 | Oculomotor apraxia (HP:0000657) | 1.48044355 |
| 64 | Short ribs (HP:0000773) | 1.47563874 |
| 65 | Abnormality of the dental pulp (HP:0006479) | 1.46636273 |
| 66 | Abnormal drinking behavior (HP:0030082) | 1.44998810 |
| 67 | Polydipsia (HP:0001959) | 1.44998810 |
| 68 | Chronic sinusitis (HP:0011109) | 1.44111031 |
| 69 | Renal dysplasia (HP:0000110) | 1.43853735 |
| 70 | Fibular hypoplasia (HP:0003038) | 1.43130729 |
| 71 | Abnormality of renal excretion (HP:0011036) | 1.43084472 |
| 72 | Decreased central vision (HP:0007663) | 1.42959340 |
| 73 | Spastic tetraparesis (HP:0001285) | 1.42834441 |
| 74 | Pancreatic cysts (HP:0001737) | 1.42194261 |
| 75 | Dyschromatopsia (HP:0007641) | 1.41207034 |
| 76 | Muscle fibrillation (HP:0010546) | 1.38066759 |
| 77 | Abnormality of dentin (HP:0010299) | 1.33661530 |
| 78 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 1.33012436 |
| 79 | Abnormality of the lower motor neuron (HP:0002366) | 1.32788177 |
| 80 | Facial cleft (HP:0002006) | 1.32624712 |
| 81 | Asymmetric septal hypertrophy (HP:0001670) | 1.30467556 |
| 82 | Absent frontal sinuses (HP:0002688) | 1.29648062 |
| 83 | Chronic hepatic failure (HP:0100626) | 1.26979084 |
| 84 | Absent epiphyses (HP:0010577) | 1.25376859 |
| 85 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.25376859 |
| 86 | Sloping forehead (HP:0000340) | 1.24453961 |
| 87 | Bundle branch block (HP:0011710) | 1.23276924 |
| 88 | Median cleft lip (HP:0000161) | 1.21025719 |
| 89 | Amyotrophic lateral sclerosis (HP:0007354) | 1.20593292 |
| 90 | Abnormality of the neuromuscular junction (HP:0003398) | 1.19633592 |
| 91 | Fatigable weakness (HP:0003473) | 1.19633592 |
| 92 | Nephroblastoma (Wilms tumor) (HP:0002667) | 1.19533858 |
| 93 | Abnormality of saccadic eye movements (HP:0000570) | 1.18752027 |
| 94 | Easy fatigability (HP:0003388) | 1.18406257 |
| 95 | Cerebellar dysplasia (HP:0007033) | 1.14474436 |
| 96 | Type 2 muscle fiber atrophy (HP:0003554) | 1.13398688 |
| 97 | Occipital encephalocele (HP:0002085) | 1.13206909 |
| 98 | Breast carcinoma (HP:0003002) | 1.11641189 |
| 99 | Broad foot (HP:0001769) | 1.11479594 |
| 100 | Optic nerve hypoplasia (HP:0000609) | 1.10292285 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK3 | 8.78425922 |
| 2 | PDK4 | 8.78425922 |
| 3 | PDK2 | 5.64863872 |
| 4 | TESK1 | 4.04199914 |
| 5 | PRKD3 | 3.97669287 |
| 6 | ICK | 2.69839355 |
| 7 | PTK2B | 1.96841462 |
| 8 | STK39 | 1.94490533 |
| 9 | WNK4 | 1.79765845 |
| 10 | NEK2 | 1.78205695 |
| 11 | PLK4 | 1.77310720 |
| 12 | PNCK | 1.56620947 |
| 13 | TTK | 1.53881922 |
| 14 | STK38 | 1.51404610 |
| 15 | STK38L | 1.36167010 |
| 16 | LATS1 | 1.29574645 |
| 17 | MUSK | 1.15981924 |
| 18 | STK3 | 1.15047770 |
| 19 | CHEK2 | 1.06318122 |
| 20 | MAP3K6 | 1.03406477 |
| 21 | TYRO3 | 1.01298672 |
| 22 | PDK1 | 0.99520600 |
| 23 | EEF2K | 0.95473398 |
| 24 | CDC7 | 0.92472374 |
| 25 | BRAF | 0.82327083 |
| 26 | DYRK1B | 0.77989448 |
| 27 | LATS2 | 0.75945722 |
| 28 | ERBB4 | 0.74293756 |
| 29 | DYRK3 | 0.69651296 |
| 30 | LMTK2 | 0.69589077 |
| 31 | MOS | 0.65773370 |
| 32 | TAOK3 | 0.61829345 |
| 33 | TESK2 | 0.61260770 |
| 34 | CCNB1 | 0.59709517 |
| 35 | PLK1 | 0.57365474 |
| 36 | CHEK1 | 0.55950947 |
| 37 | WNK1 | 0.53380844 |
| 38 | STK10 | 0.52733399 |
| 39 | IRAK1 | 0.52396888 |
| 40 | CDK12 | 0.52002071 |
| 41 | BMPR2 | 0.51763287 |
| 42 | WEE1 | 0.50064026 |
| 43 | PDPK1 | 0.44483371 |
| 44 | ATM | 0.43478417 |
| 45 | PASK | 0.42687316 |
| 46 | MAP2K7 | 0.42346937 |
| 47 | MAP3K4 | 0.41092797 |
| 48 | MAPKAPK5 | 0.40189923 |
| 49 | BRSK2 | 0.39531311 |
| 50 | TAOK1 | 0.38361277 |
| 51 | MAP2K6 | 0.38286996 |
| 52 | PINK1 | 0.37703806 |
| 53 | PAK1 | 0.37196170 |
| 54 | MAPK15 | 0.36225365 |
| 55 | PAK6 | 0.35792260 |
| 56 | PRKAA1 | 0.34860647 |
| 57 | ATR | 0.33684892 |
| 58 | DYRK2 | 0.33566004 |
| 59 | KSR2 | 0.33059060 |
| 60 | MELK | 0.30913263 |
| 61 | MARK2 | 0.30548636 |
| 62 | NTRK2 | 0.30246381 |
| 63 | MAP3K9 | 0.24847036 |
| 64 | MAPKAPK3 | 0.21824966 |
| 65 | CAMK1G | 0.20201511 |
| 66 | CDK15 | 0.18813178 |
| 67 | NEK6 | 0.18810466 |
| 68 | AURKA | 0.18488595 |
| 69 | CDK9 | 0.17625966 |
| 70 | PKN1 | 0.16380345 |
| 71 | CSNK1D | 0.16096665 |
| 72 | BRSK1 | 0.15892962 |
| 73 | CDK18 | 0.15608078 |
| 74 | AURKB | 0.14346537 |
| 75 | MAP3K5 | 0.14143942 |
| 76 | MTOR | 0.13872000 |
| 77 | CDK3 | 0.13818798 |
| 78 | CDK11A | 0.13159811 |
| 79 | PRKG2 | 0.13052458 |
| 80 | CDK1 | 0.12230173 |
| 81 | CAMK2A | 0.12159337 |
| 82 | PAK2 | 0.11834953 |
| 83 | MAP3K8 | 0.10853569 |
| 84 | PRKG1 | 0.10055552 |
| 85 | CDK2 | 0.09241786 |
| 86 | CDK14 | 0.07770655 |
| 87 | BUB1 | 0.07463884 |
| 88 | RPS6KB1 | 0.06396528 |
| 89 | IRAK2 | 0.06341449 |
| 90 | PRKCG | 0.06215181 |
| 91 | RIPK4 | 0.06211781 |
| 92 | GSK3B | 0.05658656 |
| 93 | PRKCQ | 0.04238676 |
| 94 | CDK4 | 0.04158140 |
| 95 | PRKAA2 | 0.02789228 |
| 96 | CSNK2A1 | 0.02618661 |
| 97 | BMPR1B | 0.02437849 |
| 98 | MAPK13 | 0.01491064 |
| 99 | STK11 | -0.0069373 |
| 100 | RAF1 | -0.0034062 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 5.34590978 |
| 2 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 4.01740248 |
| 3 | Basal transcription factors_Homo sapiens_hsa03022 | 3.72146683 |
| 4 | Pyruvate metabolism_Homo sapiens_hsa00620 | 3.71570127 |
| 5 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 3.37414780 |
| 6 | Propanoate metabolism_Homo sapiens_hsa00640 | 3.08170592 |
| 7 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 3.04943569 |
| 8 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 3.00519360 |
| 9 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 2.69796718 |
| 10 | Oocyte meiosis_Homo sapiens_hsa04114 | 2.54951049 |
| 11 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 2.52785844 |
| 12 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 2.27698920 |
| 13 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.94416544 |
| 14 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.87330447 |
| 15 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.81327220 |
| 16 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.80291224 |
| 17 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.80276777 |
| 18 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.74129848 |
| 19 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.60725664 |
| 20 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.59377687 |
| 21 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.57536418 |
| 22 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.50790777 |
| 23 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 1.50037291 |
| 24 | Cell cycle_Homo sapiens_hsa04110 | 1.47631257 |
| 25 | RNA transport_Homo sapiens_hsa03013 | 1.44528233 |
| 26 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 1.30032496 |
| 27 | Purine metabolism_Homo sapiens_hsa00230 | 1.22682443 |
| 28 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.21365507 |
| 29 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 1.19458718 |
| 30 | Huntingtons disease_Homo sapiens_hsa05016 | 1.17544973 |
| 31 | RNA degradation_Homo sapiens_hsa03018 | 1.16643404 |
| 32 | Mineral absorption_Homo sapiens_hsa04978 | 1.16152863 |
| 33 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.13460466 |
| 34 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.10863465 |
| 35 | Carbon metabolism_Homo sapiens_hsa01200 | 1.08775853 |
| 36 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 1.07592016 |
| 37 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.97945698 |
| 38 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.91648563 |
| 39 | Renin secretion_Homo sapiens_hsa04924 | 0.90397522 |
| 40 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.89473574 |
| 41 | Homologous recombination_Homo sapiens_hsa03440 | 0.84706484 |
| 42 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.83565629 |
| 43 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.82727167 |
| 44 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.81556462 |
| 45 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.78928162 |
| 46 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.76717702 |
| 47 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.75483850 |
| 48 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.71384919 |
| 49 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.69031099 |
| 50 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.68899169 |
| 51 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.68113221 |
| 52 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.67442219 |
| 53 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.65926649 |
| 54 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.65484236 |
| 55 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.65092696 |
| 56 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.64907095 |
| 57 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.58121761 |
| 58 | Long-term potentiation_Homo sapiens_hsa04720 | 0.56301281 |
| 59 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.55622316 |
| 60 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.55598145 |
| 61 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.55056629 |
| 62 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.54823674 |
| 63 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.53794456 |
| 64 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.53371274 |
| 65 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.52729521 |
| 66 | Insulin secretion_Homo sapiens_hsa04911 | 0.50155867 |
| 67 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.42927359 |
| 68 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.42917162 |
| 69 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.42852293 |
| 70 | Bile secretion_Homo sapiens_hsa04976 | 0.41991504 |
| 71 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.40183955 |
| 72 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.35765491 |
| 73 | * Metabolic pathways_Homo sapiens_hsa01100 | 0.34530502 |
| 74 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.34513258 |
| 75 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.34212214 |
| 76 | Circadian rhythm_Homo sapiens_hsa04710 | 0.31870592 |
| 77 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.31852500 |
| 78 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.30474945 |
| 79 | Endocytosis_Homo sapiens_hsa04144 | 0.30381608 |
| 80 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.30016491 |
| 81 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.29453127 |
| 82 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.27439752 |
| 83 | Taste transduction_Homo sapiens_hsa04742 | 0.27421102 |
| 84 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.25758784 |
| 85 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.25326061 |
| 86 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.24708023 |
| 87 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.24062716 |
| 88 | ABC transporters_Homo sapiens_hsa02010 | 0.23942627 |
| 89 | Base excision repair_Homo sapiens_hsa03410 | 0.23919478 |
| 90 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.21705367 |
| 91 | DNA replication_Homo sapiens_hsa03030 | 0.17162494 |
| 92 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.17036092 |
| 93 | Salivary secretion_Homo sapiens_hsa04970 | 0.16964480 |
| 94 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.16319997 |
| 95 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.15693245 |
| 96 | Retinol metabolism_Homo sapiens_hsa00830 | 0.14470264 |
| 97 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.13968786 |
| 98 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.12987994 |
| 99 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.11882913 |
| 100 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.09332017 |

