

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | axonemal dynein complex assembly (GO:0070286) | 9.47188925 |
| 2 | plasma membrane fusion (GO:0045026) | 9.47027808 |
| 3 | epithelial cilium movement (GO:0003351) | 9.12952017 |
| 4 | spermatid development (GO:0007286) | 8.97380331 |
| 5 | motile cilium assembly (GO:0044458) | 8.65512141 |
| 6 | reproduction (GO:0000003) | 8.59411199 |
| 7 | piRNA metabolic process (GO:0034587) | 8.01747643 |
| 8 | negative regulation of inclusion body assembly (GO:0090084) | 7.57207071 |
| 9 | regulation of cilium movement (GO:0003352) | 7.51669266 |
| 10 | cilium movement (GO:0003341) | 7.46918731 |
| 11 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 7.14044232 |
| 12 | male meiosis (GO:0007140) | 7.04677530 |
| 13 | synaptonemal complex organization (GO:0070193) | 6.87515430 |
| 14 | single fertilization (GO:0007338) | 6.85509543 |
| 15 | synaptonemal complex assembly (GO:0007130) | 6.63237072 |
| 16 | sperm capacitation (GO:0048240) | 6.45324342 |
| 17 | spermatogenesis (GO:0007283) | 6.21454680 |
| 18 | male gamete generation (GO:0048232) | 6.18992594 |
| 19 | regulation of inclusion body assembly (GO:0090083) | 6.02354207 |
| 20 | fertilization (GO:0009566) | 5.91740963 |
| 21 | ventricular system development (GO:0021591) | 5.77206327 |
| 22 | gamete generation (GO:0007276) | 5.66816709 |
| 23 | organic cation transport (GO:0015695) | 5.58642496 |
| 24 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 5.19489715 |
| 25 | calcium ion-dependent exocytosis (GO:0017156) | 5.13388049 |
| 26 | microtubule depolymerization (GO:0007019) | 5.10978406 |
| 27 | germ cell development (GO:0007281) | 5.06195380 |
| 28 | DNA methylation involved in gamete generation (GO:0043046) | 5.00910549 |
| 29 | cell recognition (GO:0008037) | 4.83756320 |
| 30 | seminiferous tubule development (GO:0072520) | 4.80286332 |
| 31 | male meiosis I (GO:0007141) | 4.72972839 |
| 32 | chromosome organization involved in meiosis (GO:0070192) | 4.64608173 |
| 33 | regulation of microtubule-based movement (GO:0060632) | 4.63895297 |
| 34 | multicellular organismal reproductive process (GO:0048609) | 4.45738549 |
| 35 | chromosome condensation (GO:0030261) | 4.37759646 |
| 36 | microtubule severing (GO:0051013) | 4.30349795 |
| 37 | meiotic nuclear division (GO:0007126) | 4.28628239 |
| 38 | DNA packaging (GO:0006323) | 4.26505341 |
| 39 | protein refolding (GO:0042026) | 4.22746904 |
| 40 | protein localization to cilium (GO:0061512) | 4.12609190 |
| 41 | left/right pattern formation (GO:0060972) | 4.11373103 |
| 42 | sequestering of actin monomers (GO:0042989) | 3.90887100 |
| 43 | spermatid nucleus differentiation (GO:0007289) | 3.89613006 |
| 44 | glycerol ether metabolic process (GO:0006662) | 3.86926608 |
| 45 | meiotic cell cycle (GO:0051321) | 3.83643943 |
| 46 | chaperone-mediated protein complex assembly (GO:0051131) | 3.75512658 |
| 47 | meiosis I (GO:0007127) | 3.72150293 |
| 48 | intraciliary transport (GO:0042073) | 3.71461529 |
| 49 | genitalia morphogenesis (GO:0035112) | 3.63568176 |
| 50 | multicellular organismal development (GO:0007275) | 3.58991344 |
| 51 | ether metabolic process (GO:0018904) | 3.53701018 |
| 52 | nuclear pore complex assembly (GO:0051292) | 3.50430444 |
| 53 | regulation of spindle checkpoint (GO:0090231) | 3.49169530 |
| 54 | mitotic sister chromatid cohesion (GO:0007064) | 3.47692507 |
| 55 | amino-acid betaine transport (GO:0015838) | 3.46316269 |
| 56 | carnitine transport (GO:0015879) | 3.46316269 |
| 57 | interferon-gamma secretion (GO:0072643) | 3.45724250 |
| 58 | carnitine transmembrane transport (GO:1902603) | 3.45317716 |
| 59 | protein polyglutamylation (GO:0018095) | 3.39732478 |
| 60 | monoubiquitinated protein deubiquitination (GO:0035520) | 3.27667323 |
| 61 | pore complex assembly (GO:0046931) | 3.14991972 |
| 62 | gene silencing by RNA (GO:0031047) | 3.14816993 |
| 63 | protein-DNA complex disassembly (GO:0032986) | 3.09766448 |
| 64 | nucleosome disassembly (GO:0006337) | 3.09766448 |
| 65 | nucleus organization (GO:0006997) | 3.08099135 |
| 66 | RNA destabilization (GO:0050779) | 3.07744632 |
| 67 | cilium organization (GO:0044782) | 3.06690659 |
| 68 | single strand break repair (GO:0000012) | 3.06492198 |
| 69 | regulation of protein polyubiquitination (GO:1902914) | 3.06394943 |
| 70 | synapsis (GO:0007129) | 3.05923147 |
| 71 | GTP biosynthetic process (GO:0006183) | 2.97860016 |
| 72 | nucleoside diphosphate phosphorylation (GO:0006165) | 2.97711482 |
| 73 | cilium assembly (GO:0042384) | 2.96148747 |
| 74 | microtubule-based movement (GO:0007018) | 2.91265145 |
| 75 | negative regulation of organelle assembly (GO:1902116) | 2.87000002 |
| 76 | axoneme assembly (GO:0035082) | 2.84221894 |
| 77 | cellular component assembly involved in morphogenesis (GO:0010927) | 2.83552454 |
| 78 | polyol catabolic process (GO:0046174) | 2.79694260 |
| 79 | centriole assembly (GO:0098534) | 2.79508844 |
| 80 | meiotic cell cycle process (GO:1903046) | 2.78924381 |
| 81 | regulation of cilium assembly (GO:1902017) | 2.78478304 |
| 82 | cilium morphogenesis (GO:0060271) | 2.75935306 |
| 83 | alditol metabolic process (GO:0019400) | 2.75519905 |
| 84 | UTP biosynthetic process (GO:0006228) | 2.75339446 |
| 85 | centriole replication (GO:0007099) | 2.74585008 |
| 86 | protein K11-linked deubiquitination (GO:0035871) | 2.67970066 |
| 87 | nuclear pore organization (GO:0006999) | 2.66691807 |
| 88 | peptidyl-glutamic acid modification (GO:0018200) | 2.65617984 |
| 89 | gene silencing (GO:0016458) | 2.61822506 |
| 90 | fusion of sperm to egg plasma membrane (GO:0007342) | 12.6002036 |
| 91 | sperm motility (GO:0030317) | 12.4008724 |
| 92 | sperm-egg recognition (GO:0035036) | 11.2012810 |
| 93 | acrosome assembly (GO:0001675) | 11.0654890 |
| 94 | acrosome reaction (GO:0007340) | 11.0344393 |
| 95 | cell wall macromolecule catabolic process (GO:0016998) | 10.4430999 |
| 96 | cell wall macromolecule metabolic process (GO:0044036) | 10.4430999 |
| 97 | multicellular organism reproduction (GO:0032504) | 10.4262735 |
| 98 | cilium or flagellum-dependent cell motility (GO:0001539) | 10.3450256 |
| 99 | binding of sperm to zona pellucida (GO:0007339) | 10.2044594 |
| 100 | cell-cell recognition (GO:0009988) | 10.0648222 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 5.19076001 |
| 2 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 3.84901218 |
| 3 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.73446417 |
| 4 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 2.69412393 |
| 5 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 2.60828337 |
| 6 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.37404317 |
| 7 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.19531167 |
| 8 | VDR_22108803_ChIP-Seq_LS180_Human | 2.17979687 |
| 9 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 2.03764662 |
| 10 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.00447753 |
| 11 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 10.9845644 |
| 12 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.99766783 |
| 13 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.97714001 |
| 14 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.93562141 |
| 15 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.90404379 |
| 16 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.87491519 |
| 17 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.81321041 |
| 18 | * WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.80432613 |
| 19 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.77171120 |
| 20 | GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.60537885 |
| 21 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.60323096 |
| 22 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.53479091 |
| 23 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.53479091 |
| 24 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.53438347 |
| 25 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.52544548 |
| 26 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 1.52183599 |
| 27 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.46769142 |
| 28 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 1.44156820 |
| 29 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.36905502 |
| 30 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.34040257 |
| 31 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.31963424 |
| 32 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.31851460 |
| 33 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 1.29439257 |
| 34 | LUZP1_20508642_ChIP-Seq_ESCs_Mouse | 1.26804758 |
| 35 | FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.26520043 |
| 36 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 1.26271388 |
| 37 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.25998438 |
| 38 | KDM2B_26808549_Chip-Seq_REH_Human | 1.24995698 |
| 39 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.24810933 |
| 40 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.23921141 |
| 41 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.23746629 |
| 42 | PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 1.22683971 |
| 43 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.20824057 |
| 44 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.19365680 |
| 45 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.18935029 |
| 46 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.18856661 |
| 47 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.17928632 |
| 48 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.15602540 |
| 49 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.15472488 |
| 50 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.13625392 |
| 51 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.12099753 |
| 52 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 1.10225631 |
| 53 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.09289529 |
| 54 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.08507498 |
| 55 | RARA_24833708_ChIP-Seq_LIVER_Mouse | 1.07164849 |
| 56 | SOX9_26525672_Chip-Seq_HEART_Mouse | 1.06940795 |
| 57 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.05920902 |
| 58 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.05158387 |
| 59 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 1.05111604 |
| 60 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.03759794 |
| 61 | ESET_19884257_ChIP-Seq_ESCs_Mouse | 1.03380002 |
| 62 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.03289377 |
| 63 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.03289377 |
| 64 | CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.00623162 |
| 65 | GATA3_21867929_ChIP-Seq_TH1_Mouse | 1.00262620 |
| 66 | RCOR3_21632747_ChIP-Seq_MESCs_Mouse | 0.99233922 |
| 67 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 0.98565343 |
| 68 | PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 0.98147006 |
| 69 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 0.97666054 |
| 70 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 0.97411683 |
| 71 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 0.96443275 |
| 72 | SPI1_26923725_Chip-Seq_HPCs_Mouse | 0.96396121 |
| 73 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 0.95649339 |
| 74 | * MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 0.95065507 |
| 75 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 0.94272298 |
| 76 | P53_22387025_ChIP-Seq_ESCs_Mouse | 0.94202147 |
| 77 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 0.94159484 |
| 78 | RNF2_27304074_Chip-Seq_NSC_Mouse | 0.93863056 |
| 79 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 0.92580761 |
| 80 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 0.91555569 |
| 81 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 0.91188832 |
| 82 | OCT4_18555785_Chip-Seq_ESCs_Mouse | 0.90864977 |
| 83 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 0.90801367 |
| 84 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 0.89060837 |
| 85 | RXRA_24833708_ChIP-Seq_LIVER_Mouse | 0.89041001 |
| 86 | GATA1_19941827_ChIP-Seq_MEL86_Mouse | 0.88939813 |
| 87 | * YY1_22570637_ChIP-Seq_MALME-3M_Human | 0.88447144 |
| 88 | CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.88263150 |
| 89 | STAT3_18555785_ChIP-Seq_MESCs_Mouse | 0.87070424 |
| 90 | MYC_27129775_Chip-Seq_CORNEA_Mouse | 0.85820509 |
| 91 | NFYB_21822215_ChIP-Seq_K562_Human | 0.85614003 |
| 92 | * SOX11_22085726_ChIP-Seq_ESNs_Mouse | 0.85568922 |
| 93 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 0.84895983 |
| 94 | SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 0.84641101 |
| 95 | SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.84578423 |
| 96 | BCAT_22108803_ChIP-Seq_LS180_Human | 0.83564104 |
| 97 | P300_18555785_Chip-Seq_ESCs_Mouse | 0.83496144 |
| 98 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 0.83396739 |
| 99 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 0.82889037 |
| 100 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 0.82829770 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 5.55272015 |
| 2 | MP0001929_abnormal_gametogenesis | 5.08962963 |
| 3 | MP0008877_abnormal_DNA_methylation | 4.37282331 |
| 4 | MP0002210_abnormal_sex_determination | 3.23345865 |
| 5 | MP0002161_abnormal_fertility/fecundity | 2.95741189 |
| 6 | MP0001145_abnormal_male_reproductive | 2.77574485 |
| 7 | MP0000653_abnormal_sex_gland | 2.36115219 |
| 8 | MP0004233_abnormal_muscle_weight | 2.21169141 |
| 9 | MP0002160_abnormal_reproductive_system | 2.15634338 |
| 10 | MP0005410_abnormal_fertilization | 15.0798085 |
| 11 | MP0002139_abnormal_hepatobiliary_system | 1.91778286 |
| 12 | MP0005670_abnormal_white_adipose | 1.72196242 |
| 13 | MP0002653_abnormal_ependyma_morphology | 1.71450881 |
| 14 | MP0003646_muscle_fatigue | 1.62850631 |
| 15 | MP0005623_abnormal_meninges_morphology | 1.55115457 |
| 16 | MP0005076_abnormal_cell_differentiation | 1.41477184 |
| 17 | MP0008058_abnormal_DNA_repair | 1.32049116 |
| 18 | MP0008057_abnormal_DNA_replication | 1.30468941 |
| 19 | MP0003115_abnormal_respiratory_system | 1.29059083 |
| 20 | MP0005389_reproductive_system_phenotype | 1.27516185 |
| 21 | MP0005647_abnormal_sex_gland | 1.21072807 |
| 22 | MP0010094_abnormal_chromosome_stability | 1.20407789 |
| 23 | MP0004510_myositis | 1.10165417 |
| 24 | MP0008007_abnormal_cellular_replicative | 1.09545279 |
| 25 | MP0002282_abnormal_trachea_morphology | 1.01337429 |
| 26 | MP0001765_abnormal_ion_homeostasis | 0.96399629 |
| 27 | MP0009046_muscle_twitch | 0.95678078 |
| 28 | MP0005423_abnormal_somatic_nervous | 0.91328556 |
| 29 | MP0002234_abnormal_pharynx_morphology | 0.90731293 |
| 30 | MP0002877_abnormal_melanocyte_morpholog | 0.89472715 |
| 31 | MP0001986_abnormal_taste_sensitivity | 0.83633594 |
| 32 | MP0000015_abnormal_ear_pigmentation | 0.82886721 |
| 33 | MP0003329_amyloid_beta_deposits | 0.77750992 |
| 34 | MP0005310_abnormal_salivary_gland | 0.75497085 |
| 35 | MP0003787_abnormal_imprinting | 0.74963502 |
| 36 | MP0001873_stomach_inflammation | 0.74890823 |
| 37 | MP0003183_abnormal_peptide_metabolism | 0.74429582 |
| 38 | MP0003111_abnormal_nucleus_morphology | 0.73204372 |
| 39 | MP0002254_reproductive_system_inflammat | 0.72992495 |
| 40 | MP0003077_abnormal_cell_cycle | 0.66209576 |
| 41 | MP0002138_abnormal_hepatobiliary_system | 0.65978045 |
| 42 | MP0000678_abnormal_parathyroid_gland | 0.60088199 |
| 43 | MP0003786_premature_aging | 0.59408744 |
| 44 | MP0000604_amyloidosis | 0.58440187 |
| 45 | MP0000358_abnormal_cell_content/ | 0.56994582 |
| 46 | MP0010307_abnormal_tumor_latency | 0.55792024 |
| 47 | MP0000569_abnormal_digit_pigmentation | 0.55079209 |
| 48 | MP0005365_abnormal_bile_salt | 0.53851670 |
| 49 | MP0005253_abnormal_eye_physiology | 0.52460573 |
| 50 | MP0008995_early_reproductive_senescence | 0.52196841 |
| 51 | MP0002876_abnormal_thyroid_physiology | 0.51298913 |
| 52 | MP0006072_abnormal_retinal_apoptosis | 0.50662939 |
| 53 | MP0004264_abnormal_extraembryonic_tissu | 0.50576021 |
| 54 | MP0005397_hematopoietic_system_phenotyp | 0.50382969 |
| 55 | MP0001545_abnormal_hematopoietic_system | 0.50382969 |
| 56 | MP0005391_vision/eye_phenotype | 0.49920777 |
| 57 | MP0001293_anophthalmia | 0.49348423 |
| 58 | MP0008569_lethality_at_weaning | 0.49037061 |
| 59 | MP0009278_abnormal_bone_marrow | 0.46640977 |
| 60 | MP0001984_abnormal_olfaction | 0.45288729 |
| 61 | MP0002697_abnormal_eye_size | 0.45249758 |
| 62 | MP0005636_abnormal_mineral_homeostasis | 0.44677731 |
| 63 | MP0002693_abnormal_pancreas_physiology | 0.44200783 |
| 64 | MP0009053_abnormal_anal_canal | 0.43828876 |
| 65 | MP0001529_abnormal_vocalization | 0.43796717 |
| 66 | MP0001730_embryonic_growth_arrest | 0.43738717 |
| 67 | MP0000313_abnormal_cell_death | 0.43370303 |
| 68 | MP0002084_abnormal_developmental_patter | 0.42298013 |
| 69 | MP0004043_abnormal_pH_regulation | 0.42236068 |
| 70 | MP0002332_abnormal_exercise_endurance | 0.41890753 |
| 71 | MP0001672_abnormal_embryogenesis/_devel | 0.41282623 |
| 72 | MP0005380_embryogenesis_phenotype | 0.41282623 |
| 73 | MP0003890_abnormal_embryonic-extraembry | 0.41070235 |
| 74 | MP0003943_abnormal_hepatobiliary_system | 0.41042352 |
| 75 | MP0004270_analgesia | 0.40732353 |
| 76 | MP0004808_abnormal_hematopoietic_stem | 0.38875191 |
| 77 | MP0003693_abnormal_embryo_hatching | 0.37772763 |
| 78 | MP0009672_abnormal_birth_weight | 0.37766621 |
| 79 | MP0003861_abnormal_nervous_system | 0.37678871 |
| 80 | MP0002928_abnormal_bile_duct | 0.37622131 |
| 81 | MP0001324_abnormal_eye_pigmentation | 0.37521005 |
| 82 | MP0003942_abnormal_urinary_system | 0.37011882 |
| 83 | MP0001919_abnormal_reproductive_system | 0.36922609 |
| 84 | MP0002177_abnormal_outer_ear | 0.36602121 |
| 85 | MP0004197_abnormal_fetal_growth/weight/ | 0.35999161 |
| 86 | MP0002272_abnormal_nervous_system | 0.35276528 |
| 87 | MP0003948_abnormal_gas_homeostasis | 0.35141522 |
| 88 | MP0004957_abnormal_blastocyst_morpholog | 0.34202340 |
| 89 | MP0008932_abnormal_embryonic_tissue | 0.33910650 |
| 90 | MP0005408_hypopigmentation | 0.33666279 |
| 91 | MP0006036_abnormal_mitochondrial_physio | 0.32604129 |
| 92 | MP0002152_abnormal_brain_morphology | 0.31947843 |
| 93 | MP0001697_abnormal_embryo_size | 0.31935973 |
| 94 | MP0002169_no_abnormal_phenotype | 0.31341180 |
| 95 | MP0002088_abnormal_embryonic_growth/wei | 0.31316612 |
| 96 | MP0003984_embryonic_growth_retardation | 0.31227524 |
| 97 | MP0002873_normal_phenotype | 0.31193818 |
| 98 | MP0002405_respiratory_system_inflammati | 0.31153091 |
| 99 | MP0009703_decreased_birth_body | 0.30745153 |
| 100 | MP0001764_abnormal_homeostasis | 0.30243817 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal respiratory motile cilium physiology (HP:0012261) | 8.31633927 |
| 2 | Chronic bronchitis (HP:0004469) | 8.13541088 |
| 3 | Abnormal respiratory motile cilium morphology (HP:0005938) | 8.06493423 |
| 4 | Abnormal respiratory epithelium morphology (HP:0012253) | 8.06493423 |
| 5 | Rhinitis (HP:0012384) | 7.14339463 |
| 6 | Infertility (HP:0000789) | 6.59230339 |
| 7 | Nasal polyposis (HP:0100582) | 6.19036320 |
| 8 | Abnormal ciliary motility (HP:0012262) | 6.15635410 |
| 9 | Nephronophthisis (HP:0000090) | 5.01501946 |
| 10 | Abnormality of the nasal mucosa (HP:0000433) | 4.93795370 |
| 11 | Bronchitis (HP:0012387) | 4.67561208 |
| 12 | Bronchiectasis (HP:0002110) | 4.40790342 |
| 13 | Abnormality of the renal medulla (HP:0100957) | 3.79868543 |
| 14 | Male infertility (HP:0003251) | 3.72352075 |
| 15 | Abnormal spermatogenesis (HP:0008669) | 3.62061617 |
| 16 | Medial flaring of the eyebrow (HP:0010747) | 3.47511773 |
| 17 | Recurrent otitis media (HP:0000403) | 3.14531684 |
| 18 | Impulsivity (HP:0100710) | 2.84553395 |
| 19 | Gonadotropin excess (HP:0000837) | 2.83755064 |
| 20 | Molar tooth sign on MRI (HP:0002419) | 2.80674483 |
| 21 | Abnormality of midbrain morphology (HP:0002418) | 2.80674483 |
| 22 | Tubular atrophy (HP:0000092) | 2.78536984 |
| 23 | Recurrent sinusitis (HP:0011108) | 2.65773343 |
| 24 | Abnormality of the lower motor neuron (HP:0002366) | 2.64151201 |
| 25 | Gait imbalance (HP:0002141) | 2.52924110 |
| 26 | Tubulointerstitial nephritis (HP:0001970) | 2.46854212 |
| 27 | Congenital primary aphakia (HP:0007707) | 2.44187903 |
| 28 | Azoospermia (HP:0000027) | 2.42606555 |
| 29 | Postaxial foot polydactyly (HP:0001830) | 2.36918487 |
| 30 | Recurrent bronchitis (HP:0002837) | 2.36907955 |
| 31 | Amyotrophic lateral sclerosis (HP:0007354) | 2.31086365 |
| 32 | Heterotopia (HP:0002282) | 2.25501543 |
| 33 | Nephrogenic diabetes insipidus (HP:0009806) | 2.21836432 |
| 34 | Fibular hypoplasia (HP:0003038) | 2.15632705 |
| 35 | Tubulointerstitial abnormality (HP:0001969) | 2.10520583 |
| 36 | Aplasia/Hypoplasia of the lens (HP:0008063) | 2.09789510 |
| 37 | Stage 5 chronic kidney disease (HP:0003774) | 2.08327111 |
| 38 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 12.2087062 |
| 39 | Absent/shortened dynein arms (HP:0200106) | 11.8415991 |
| 40 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 11.8415991 |
| 41 | Abnormality of the renal cortex (HP:0011035) | 1.97476966 |
| 42 | Poor coordination (HP:0002370) | 1.94793521 |
| 43 | Renal dysplasia (HP:0000110) | 1.94721866 |
| 44 | Microglossia (HP:0000171) | 1.93151205 |
| 45 | Double outlet right ventricle (HP:0001719) | 1.92601709 |
| 46 | Congenital malformation of the right heart (HP:0011723) | 1.92601709 |
| 47 | Postaxial hand polydactyly (HP:0001162) | 1.92550792 |
| 48 | Abnormal gallbladder physiology (HP:0012438) | 1.92053080 |
| 49 | Cholecystitis (HP:0001082) | 1.92053080 |
| 50 | Abnormal drinking behavior (HP:0030082) | 1.91197197 |
| 51 | Polydipsia (HP:0001959) | 1.91197197 |
| 52 | Congenital hepatic fibrosis (HP:0002612) | 1.85000885 |
| 53 | Easy fatigability (HP:0003388) | 1.79958652 |
| 54 | Facial cleft (HP:0002006) | 1.79057821 |
| 55 | Impaired proprioception (HP:0010831) | 1.77934842 |
| 56 | Ectopic kidney (HP:0000086) | 1.68985976 |
| 57 | Vaginal atresia (HP:0000148) | 1.68827792 |
| 58 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.68560224 |
| 59 | Tubulointerstitial fibrosis (HP:0005576) | 1.68363285 |
| 60 | 11 pairs of ribs (HP:0000878) | 1.67976211 |
| 61 | Oculomotor apraxia (HP:0000657) | 1.67683008 |
| 62 | Median cleft lip (HP:0000161) | 1.65230244 |
| 63 | Dyschromatopsia (HP:0007641) | 1.63966847 |
| 64 | Short ribs (HP:0000773) | 1.63565241 |
| 65 | Exercise-induced myalgia (HP:0003738) | 1.63296544 |
| 66 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.63285594 |
| 67 | Selective tooth agenesis (HP:0001592) | 1.61294513 |
| 68 | Genital tract atresia (HP:0001827) | 1.61077413 |
| 69 | Bell-shaped thorax (HP:0001591) | 1.53658257 |
| 70 | Decreased central vision (HP:0007663) | 1.51086471 |
| 71 | Spastic tetraparesis (HP:0001285) | 1.50569504 |
| 72 | Abnormality of renal excretion (HP:0011036) | 1.50308431 |
| 73 | Absent frontal sinuses (HP:0002688) | 1.48911033 |
| 74 | True hermaphroditism (HP:0010459) | 1.48778055 |
| 75 | Short thorax (HP:0010306) | 1.48446599 |
| 76 | Cystic liver disease (HP:0006706) | 1.47621664 |
| 77 | Myoglobinuria (HP:0002913) | 1.46791723 |
| 78 | Hemiparesis (HP:0001269) | 1.45172874 |
| 79 | Breast carcinoma (HP:0003002) | 1.43899348 |
| 80 | Pancreatic fibrosis (HP:0100732) | 1.42345094 |
| 81 | Bifid tongue (HP:0010297) | 1.40278726 |
| 82 | Choroideremia (HP:0001139) | 1.38730507 |
| 83 | Abnormality of the neuromuscular junction (HP:0003398) | 1.36495781 |
| 84 | Fatigable weakness (HP:0003473) | 1.36495781 |
| 85 | Bile duct proliferation (HP:0001408) | 1.36313554 |
| 86 | Abnormal biliary tract physiology (HP:0012439) | 1.36313554 |
| 87 | Attenuation of retinal blood vessels (HP:0007843) | 1.34691594 |
| 88 | Bony spicule pigmentary retinopathy (HP:0007737) | 1.32934868 |
| 89 | Upper motor neuron abnormality (HP:0002127) | 1.31548384 |
| 90 | Sloping forehead (HP:0000340) | 1.31290096 |
| 91 | Sclerocornea (HP:0000647) | 1.29141596 |
| 92 | Nephropathy (HP:0000112) | 1.28951213 |
| 93 | Abnormality of ocular smooth pursuit (HP:0000617) | 1.28363291 |
| 94 | Anencephaly (HP:0002323) | 1.27879972 |
| 95 | Aplasia/Hypoplasia of the fibula (HP:0006492) | 1.27465431 |
| 96 | Vascular calcification (HP:0004934) | 1.23602247 |
| 97 | Short femoral neck (HP:0100864) | 1.21807843 |
| 98 | Preaxial hand polydactyly (HP:0001177) | 1.20548774 |
| 99 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.20236287 |
| 100 | Absent epiphyses (HP:0010577) | 1.20236287 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK4 | 6.73137543 |
| 2 | PDK3 | 6.73137543 |
| 3 | TESK1 | 5.97962806 |
| 4 | PRKD3 | 5.63551145 |
| 5 | ICK | 5.55146977 |
| 6 | PDK2 | 5.37437598 |
| 7 | MUSK | 3.10705643 |
| 8 | PNCK | 2.39213441 |
| 9 | FRK | 1.99686843 |
| 10 | PTK2B | 1.68729743 |
| 11 | MAPK15 | 1.66436950 |
| 12 | NEK2 | 1.64427228 |
| 13 | WNK4 | 1.59451595 |
| 14 | STK38 | 1.47204249 |
| 15 | STK39 | 1.25225021 |
| 16 | PASK | 1.22587491 |
| 17 | PDK1 | 0.99598856 |
| 18 | DYRK1B | 0.97793768 |
| 19 | DYRK3 | 0.88327795 |
| 20 | CAMK1G | 0.87697008 |
| 21 | TTK | 0.85029173 |
| 22 | IRAK1 | 0.83604163 |
| 23 | MAPKAPK5 | 0.77263480 |
| 24 | PINK1 | 0.67536875 |
| 25 | CCNB1 | 0.66962884 |
| 26 | PRPF4B | 0.63463322 |
| 27 | CHEK2 | 0.63226444 |
| 28 | CDC7 | 0.59940576 |
| 29 | WNK1 | 0.59852474 |
| 30 | PIM1 | 0.56453574 |
| 31 | RPS6KB1 | 0.56044474 |
| 32 | ERBB4 | 0.54981985 |
| 33 | TSSK6 | 0.54213503 |
| 34 | TESK2 | 0.53496746 |
| 35 | NEK6 | 0.52870143 |
| 36 | ATR | 0.52857042 |
| 37 | ATM | 0.52493672 |
| 38 | PDPK1 | 0.47082316 |
| 39 | PLK3 | 0.46991040 |
| 40 | MAP3K14 | 0.46391365 |
| 41 | CHEK1 | 0.44890690 |
| 42 | MTOR | 0.38633799 |
| 43 | BRAF | 0.38518441 |
| 44 | IRAK2 | 0.38429786 |
| 45 | PRKCZ | 0.37034159 |
| 46 | MAP3K10 | 0.35454298 |
| 47 | CHUK | 0.34931673 |
| 48 | BMPR1B | 0.32904398 |
| 49 | IKBKB | 0.32707281 |
| 50 | PIM2 | 0.31941200 |
| 51 | RPS6KA6 | 0.31740584 |
| 52 | RPS6KA2 | 0.31730421 |
| 53 | RPS6KL1 | 0.31268839 |
| 54 | RPS6KC1 | 0.31268839 |
| 55 | RPS6KA1 | 0.31215926 |
| 56 | MST4 | 0.31117790 |
| 57 | PKN1 | 0.29180876 |
| 58 | TYRO3 | 0.26999940 |
| 59 | PLK4 | 0.26796926 |
| 60 | MAP2K7 | 0.26748728 |
| 61 | CDK12 | 0.26614245 |
| 62 | STK3 | 0.26263306 |
| 63 | BCKDK | 0.25036495 |
| 64 | PRKCG | 0.24616877 |
| 65 | PLK1 | 0.24093771 |
| 66 | EIF2AK2 | 0.23669950 |
| 67 | PAK1 | 0.23231387 |
| 68 | SRPK1 | 0.23133090 |
| 69 | ARAF | 0.22892257 |
| 70 | MAP3K4 | 0.22606136 |
| 71 | IKBKE | 0.22448373 |
| 72 | MARK1 | 0.21104513 |
| 73 | BRSK1 | 0.20734593 |
| 74 | PRKAA1 | 0.20170444 |
| 75 | AURKA | 0.18691938 |
| 76 | MARK3 | 0.18689295 |
| 77 | MAPK11 | 0.16668762 |
| 78 | NTRK2 | 0.16575845 |
| 79 | SGK2 | 0.14741349 |
| 80 | YES1 | 0.13818092 |
| 81 | BRSK2 | 0.12730214 |
| 82 | CSNK2A2 | 0.12219797 |
| 83 | BUB1 | 0.11949979 |
| 84 | BCR | 0.11685675 |
| 85 | EEF2K | 0.11273813 |
| 86 | PRKDC | 0.11163194 |
| 87 | GSK3B | 0.11040619 |
| 88 | WEE1 | 0.10934150 |
| 89 | RPS6KA5 | 0.09719718 |
| 90 | MAPK7 | 0.09395698 |
| 91 | CSNK1D | 0.09305041 |
| 92 | CSNK2A1 | 0.09222528 |
| 93 | CDK2 | 0.08174394 |
| 94 | CDK1 | 0.07807287 |
| 95 | PTK6 | 0.06465475 |
| 96 | MAPK8 | 0.06310666 |
| 97 | STK38L | 0.06173180 |
| 98 | AKT3 | 0.05550709 |
| 99 | PAK2 | 0.05446402 |
| 100 | TBK1 | 0.05248264 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 4.06861021 |
| 2 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 3.95715778 |
| 3 | Pyruvate metabolism_Homo sapiens_hsa00620 | 3.82140119 |
| 4 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 2.91114870 |
| 5 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 2.84040262 |
| 6 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 2.80781725 |
| 7 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.62138067 |
| 8 | Amphetamine addiction_Homo sapiens_hsa05031 | 2.43625949 |
| 9 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 2.36263197 |
| 10 | Selenocompound metabolism_Homo sapiens_hsa00450 | 2.35255117 |
| 11 | Basal transcription factors_Homo sapiens_hsa03022 | 2.13362607 |
| 12 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 2.10218115 |
| 13 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 2.06994957 |
| 14 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.98350926 |
| 15 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.90645665 |
| 16 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.79464954 |
| 17 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.71341430 |
| 18 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.70293463 |
| 19 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.59077166 |
| 20 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.56866662 |
| 21 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.56602058 |
| 22 | RNA transport_Homo sapiens_hsa03013 | 1.52620818 |
| 23 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 1.51689405 |
| 24 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.50591973 |
| 25 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.43959714 |
| 26 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.37776447 |
| 27 | Legionellosis_Homo sapiens_hsa05134 | 1.37177109 |
| 28 | Taste transduction_Homo sapiens_hsa04742 | 1.31404333 |
| 29 | Huntingtons disease_Homo sapiens_hsa05016 | 1.27307051 |
| 30 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.25506333 |
| 31 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.24580908 |
| 32 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 1.24468805 |
| 33 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.23134768 |
| 34 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.21164193 |
| 35 | Purine metabolism_Homo sapiens_hsa00230 | 1.20717288 |
| 36 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.20716817 |
| 37 | Long-term potentiation_Homo sapiens_hsa04720 | 1.17575197 |
| 38 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.07723817 |
| 39 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 1.05744791 |
| 40 | Carbon metabolism_Homo sapiens_hsa01200 | 1.05663600 |
| 41 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.00542626 |
| 42 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.99632265 |
| 43 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.97659157 |
| 44 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.95518614 |
| 45 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.95313945 |
| 46 | Renin secretion_Homo sapiens_hsa04924 | 0.92812988 |
| 47 | ABC transporters_Homo sapiens_hsa02010 | 0.88645072 |
| 48 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.87848372 |
| 49 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.87759519 |
| 50 | Alcoholism_Homo sapiens_hsa05034 | 0.85952668 |
| 51 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.84587890 |
| 52 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.84022480 |
| 53 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.81747307 |
| 54 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.81515938 |
| 55 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.77964995 |
| 56 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.72389928 |
| 57 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.71598951 |
| 58 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.71338375 |
| 59 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.70883538 |
| 60 | Protein export_Homo sapiens_hsa03060 | 0.68907992 |
| 61 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.67573551 |
| 62 | RNA degradation_Homo sapiens_hsa03018 | 0.67553230 |
| 63 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.65879126 |
| 64 | Cocaine addiction_Homo sapiens_hsa05030 | 0.65367986 |
| 65 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.64582647 |
| 66 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.64428136 |
| 67 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.64288263 |
| 68 | Insulin secretion_Homo sapiens_hsa04911 | 0.62580439 |
| 69 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.58390531 |
| 70 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.56155295 |
| 71 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.55683246 |
| 72 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.52093050 |
| 73 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.50612877 |
| 74 | Cell cycle_Homo sapiens_hsa04110 | 0.49022982 |
| 75 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.48510884 |
| 76 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.47611708 |
| 77 | Insulin resistance_Homo sapiens_hsa04931 | 0.45938303 |
| 78 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.43006167 |
| 79 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.42087352 |
| 80 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.39894599 |
| 81 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.39714207 |
| 82 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.39466874 |
| 83 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.37883615 |
| 84 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.35156592 |
| 85 | Influenza A_Homo sapiens_hsa05164 | 0.34513335 |
| 86 | Homologous recombination_Homo sapiens_hsa03440 | 0.34176550 |
| 87 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.33569268 |
| 88 | Metabolic pathways_Homo sapiens_hsa01100 | 0.33328270 |
| 89 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.33019365 |
| 90 | Circadian entrainment_Homo sapiens_hsa04713 | 0.32038267 |
| 91 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.30878235 |
| 92 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.29780069 |
| 93 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.29771656 |
| 94 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.29688953 |
| 95 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.28236125 |
| 96 | Measles_Homo sapiens_hsa05162 | 0.27548841 |
| 97 | HTLV-I infection_Homo sapiens_hsa05166 | 0.26657604 |
| 98 | Endocytosis_Homo sapiens_hsa04144 | 0.25210231 |
| 99 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.23957489 |
| 100 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.23924466 |

