

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | epithelial cilium movement (GO:0003351) | 9.97884011 |
| 2 | reproduction (GO:0000003) | 9.86300619 |
| 3 | spermatid development (GO:0007286) | 9.63246290 |
| 4 | axonemal dynein complex assembly (GO:0070286) | 9.58567427 |
| 5 | motile cilium assembly (GO:0044458) | 9.40819891 |
| 6 | cilium or flagellum-dependent cell motility (GO:0001539) | 8.98695753 |
| 7 | regulation of cilium movement (GO:0003352) | 8.30341541 |
| 8 | cilium movement (GO:0003341) | 8.15377212 |
| 9 | single fertilization (GO:0007338) | 7.64651542 |
| 10 | sperm capacitation (GO:0048240) | 7.42800729 |
| 11 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 7.39704759 |
| 12 | male meiosis (GO:0007140) | 7.10861723 |
| 13 | synaptonemal complex assembly (GO:0007130) | 7.06892983 |
| 14 | synaptonemal complex organization (GO:0070193) | 6.98963026 |
| 15 | spermatogenesis (GO:0007283) | 6.53618229 |
| 16 | male gamete generation (GO:0048232) | 6.51290186 |
| 17 | piRNA metabolic process (GO:0034587) | 6.44234042 |
| 18 | microtubule depolymerization (GO:0007019) | 6.39543675 |
| 19 | fertilization (GO:0009566) | 6.38799466 |
| 20 | organic cation transport (GO:0015695) | 6.38656705 |
| 21 | negative regulation of inclusion body assembly (GO:0090084) | 6.37196064 |
| 22 | gamete generation (GO:0007276) | 5.99009949 |
| 23 | spermatid nucleus differentiation (GO:0007289) | 5.61796557 |
| 24 | calcium ion-dependent exocytosis (GO:0017156) | 5.56954094 |
| 25 | regulation of inclusion body assembly (GO:0090083) | 5.36689153 |
| 26 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 5.36597888 |
| 27 | germ cell development (GO:0007281) | 5.29079631 |
| 28 | cell recognition (GO:0008037) | 5.21962660 |
| 29 | ventricular system development (GO:0021591) | 5.19626398 |
| 30 | microtubule severing (GO:0051013) | 4.99478440 |
| 31 | chromosome organization involved in meiosis (GO:0070192) | 4.95463805 |
| 32 | glycerol ether metabolic process (GO:0006662) | 4.88054811 |
| 33 | chromosome condensation (GO:0030261) | 4.83051148 |
| 34 | regulation of microtubule-based movement (GO:0060632) | 4.80885409 |
| 35 | multicellular organismal reproductive process (GO:0048609) | 4.71281612 |
| 36 | sexual reproduction (GO:0019953) | 4.60534134 |
| 37 | DNA packaging (GO:0006323) | 4.51335485 |
| 38 | ether metabolic process (GO:0018904) | 4.50683996 |
| 39 | male meiosis I (GO:0007141) | 4.40445938 |
| 40 | seminiferous tubule development (GO:0072520) | 4.40005985 |
| 41 | DNA methylation involved in gamete generation (GO:0043046) | 4.35880245 |
| 42 | single strand break repair (GO:0000012) | 4.33042772 |
| 43 | protein K11-linked deubiquitination (GO:0035871) | 4.13610790 |
| 44 | meiotic nuclear division (GO:0007126) | 4.10597453 |
| 45 | monoubiquitinated protein deubiquitination (GO:0035520) | 4.06050448 |
| 46 | chaperone-mediated protein complex assembly (GO:0051131) | 4.04448978 |
| 47 | sequestering of actin monomers (GO:0042989) | 3.95815790 |
| 48 | left/right pattern formation (GO:0060972) | 3.82900912 |
| 49 | genitalia morphogenesis (GO:0035112) | 3.82335057 |
| 50 | multicellular organismal development (GO:0007275) | 3.81269104 |
| 51 | protein polyglutamylation (GO:0018095) | 3.46479815 |
| 52 | interferon-gamma secretion (GO:0072643) | 3.46202873 |
| 53 | meiosis I (GO:0007127) | 3.44066149 |
| 54 | glycolytic process (GO:0006096) | 3.37800620 |
| 55 | protein localization to cilium (GO:0061512) | 3.25836594 |
| 56 | microtubule polymerization or depolymerization (GO:0031109) | 3.24421976 |
| 57 | polyol catabolic process (GO:0046174) | 3.20731182 |
| 58 | synapsis (GO:0007129) | 3.14816452 |
| 59 | regulation of spindle checkpoint (GO:0090231) | 3.09386546 |
| 60 | positive regulation of macrophage activation (GO:0043032) | 3.06750620 |
| 61 | alditol metabolic process (GO:0019400) | 3.02438480 |
| 62 | nucleoside diphosphate phosphorylation (GO:0006165) | 3.01457031 |
| 63 | meiotic cell cycle (GO:0051321) | 2.99810992 |
| 64 | centriole assembly (GO:0098534) | 2.99141335 |
| 65 | cilium organization (GO:0044782) | 2.92947761 |
| 66 | GTP biosynthetic process (GO:0006183) | 2.92139000 |
| 67 | carnitine transport (GO:0015879) | 2.87243208 |
| 68 | amino-acid betaine transport (GO:0015838) | 2.87243208 |
| 69 | cellular component assembly involved in morphogenesis (GO:0010927) | 2.82583410 |
| 70 | cilium assembly (GO:0042384) | 2.82310692 |
| 71 | nucleus organization (GO:0006997) | 2.80269918 |
| 72 | protein refolding (GO:0042026) | 2.76555019 |
| 73 | lactate metabolic process (GO:0006089) | 2.73548581 |
| 74 | cilium morphogenesis (GO:0060271) | 2.72534279 |
| 75 | carnitine transmembrane transport (GO:1902603) | 2.71909059 |
| 76 | microtubule-based movement (GO:0007018) | 2.70628961 |
| 77 | meiotic cell cycle process (GO:1903046) | 2.68125021 |
| 78 | intraciliary transport (GO:0042073) | 2.66667713 |
| 79 | glycerol metabolic process (GO:0006071) | 2.63144060 |
| 80 | UTP biosynthetic process (GO:0006228) | 2.58481653 |
| 81 | RNA localization (GO:0006403) | 2.55652562 |
| 82 | mitotic sister chromatid cohesion (GO:0007064) | 2.53190630 |
| 83 | peptidyl-glutamic acid modification (GO:0018200) | 2.51490139 |
| 84 | polyamine biosynthetic process (GO:0006596) | 2.49394616 |
| 85 | cell redox homeostasis (GO:0045454) | 2.42677318 |
| 86 | negative regulation of organelle assembly (GO:1902116) | 2.42540921 |
| 87 | chromatin silencing (GO:0006342) | 2.42354794 |
| 88 | regulation of cilium assembly (GO:1902017) | 2.40342850 |
| 89 | UTP metabolic process (GO:0046051) | 2.38027631 |
| 90 | cell wall macromolecule metabolic process (GO:0044036) | 14.6737285 |
| 91 | cell wall macromolecule catabolic process (GO:0016998) | 14.6737285 |
| 92 | sperm motility (GO:0030317) | 13.9555143 |
| 93 | fusion of sperm to egg plasma membrane (GO:0007342) | 13.7217771 |
| 94 | acrosome assembly (GO:0001675) | 12.6375679 |
| 95 | acrosome reaction (GO:0007340) | 11.9521012 |
| 96 | sperm-egg recognition (GO:0035036) | 11.9178759 |
| 97 | multicellular organism reproduction (GO:0032504) | 11.3651961 |
| 98 | binding of sperm to zona pellucida (GO:0007339) | 10.8272905 |
| 99 | cell-cell recognition (GO:0009988) | 10.6808100 |
| 100 | plasma membrane fusion (GO:0045026) | 10.4481917 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 8.29269567 |
| 2 | EZH2_22144423_ChIP-Seq_EOC_Human | 4.53881338 |
| 3 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 4.35187696 |
| 4 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 3.54711495 |
| 5 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.75198925 |
| 6 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 2.72269729 |
| 7 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.56891082 |
| 8 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.56079870 |
| 9 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.40835988 |
| 10 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 2.35606718 |
| 11 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 2.11841321 |
| 12 | VDR_22108803_ChIP-Seq_LS180_Human | 2.07624051 |
| 13 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.99816763 |
| 14 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 1.96762856 |
| 15 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.93572307 |
| 16 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.90426949 |
| 17 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.89312404 |
| 18 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.82208804 |
| 19 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.80550898 |
| 20 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.78416138 |
| 21 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.77292960 |
| 22 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.74834219 |
| 23 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.73107418 |
| 24 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.71397825 |
| 25 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.67607872 |
| 26 | KDM2B_26808549_Chip-Seq_REH_Human | 1.65033605 |
| 27 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.63970175 |
| 28 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.62871340 |
| 29 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.62378946 |
| 30 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.60853582 |
| 31 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.60467963 |
| 32 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.57966415 |
| 33 | GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.53077834 |
| 34 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.52746820 |
| 35 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 1.51271137 |
| 36 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.46546738 |
| 37 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.44895100 |
| 38 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.44147353 |
| 39 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.43698028 |
| 40 | P53_22387025_ChIP-Seq_ESCs_Mouse | 1.43126360 |
| 41 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.39913037 |
| 42 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.39913037 |
| 43 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.39487526 |
| 44 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.38064943 |
| 45 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.38064943 |
| 46 | OCT4_18555785_Chip-Seq_ESCs_Mouse | 1.37270538 |
| 47 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 1.36621636 |
| 48 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.35183163 |
| 49 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.33312910 |
| 50 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.32949357 |
| 51 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 1.32018431 |
| 52 | GATA3_21867929_ChIP-Seq_TH1_Mouse | 1.31844308 |
| 53 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.30422605 |
| 54 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.30216945 |
| 55 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.29536103 |
| 56 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.28937106 |
| 57 | LUZP1_20508642_ChIP-Seq_ESCs_Mouse | 1.28623417 |
| 58 | P300_18555785_Chip-Seq_ESCs_Mouse | 1.28153255 |
| 59 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.25255087 |
| 60 | EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 1.24745640 |
| 61 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 1.24397849 |
| 62 | KLF4_18555785_Chip-Seq_ESCs_Mouse | 1.21958735 |
| 63 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.21470758 |
| 64 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 1.20958301 |
| 65 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.18578303 |
| 66 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.17712762 |
| 67 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.17240539 |
| 68 | ESRRB_18555785_Chip-Seq_ESCs_Mouse | 1.16651764 |
| 69 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.16379771 |
| 70 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.16281255 |
| 71 | CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.14277640 |
| 72 | PU1_27457419_Chip-Seq_LIVER_Mouse | 1.13605271 |
| 73 | E2F1_18555785_Chip-Seq_ESCs_Mouse | 1.13401793 |
| 74 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 1.12651327 |
| 75 | NMYC_18555785_Chip-Seq_ESCs_Mouse | 1.12153151 |
| 76 | PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 1.11687574 |
| 77 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 1.11551866 |
| 78 | ESET_19884257_ChIP-Seq_ESCs_Mouse | 1.10834449 |
| 79 | SOX2_18555785_Chip-Seq_ESCs_Mouse | 1.10680943 |
| 80 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 1.10131506 |
| 81 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 1.09861131 |
| 82 | FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.07928508 |
| 83 | CTCF_18555785_Chip-Seq_ESCs_Mouse | 1.06987938 |
| 84 | RUNX1_27457419_Chip-Seq_LIVER_Mouse | 1.03470834 |
| 85 | SPI1_26923725_Chip-Seq_HPCs_Mouse | 1.02489061 |
| 86 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.02440587 |
| 87 | SMAD1_18555785_Chip-Seq_ESCs_Mouse | 0.99793063 |
| 88 | ZFX_18555785_Chip-Seq_ESCs_Mouse | 0.98583128 |
| 89 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 0.98343844 |
| 90 | ERG_20517297_ChIP-Seq_VCAP_Human | 0.97740914 |
| 91 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 0.97605983 |
| 92 | GATA1_19941827_ChIP-Seq_MEL86_Mouse | 0.95694957 |
| 93 | CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.95362620 |
| 94 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 0.94936473 |
| 95 | SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.94815716 |
| 96 | RXRA_24833708_ChIP-Seq_LIVER_Mouse | 0.93004676 |
| 97 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 0.92936781 |
| 98 | SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse | 0.90048263 |
| 99 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 0.89428813 |
| 100 | MYC_27129775_Chip-Seq_CORNEA_Mouse | 0.89300544 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 6.04277813 |
| 2 | MP0001929_abnormal_gametogenesis | 5.53099628 |
| 3 | MP0008877_abnormal_DNA_methylation | 4.11600421 |
| 4 | MP0002210_abnormal_sex_determination | 3.39713136 |
| 5 | MP0002161_abnormal_fertility/fecundity | 3.23551083 |
| 6 | MP0001145_abnormal_male_reproductive | 2.88356665 |
| 7 | MP0002653_abnormal_ependyma_morphology | 2.76959380 |
| 8 | MP0005670_abnormal_white_adipose | 2.66325312 |
| 9 | MP0000653_abnormal_sex_gland | 2.51824418 |
| 10 | MP0005410_abnormal_fertilization | 16.3324319 |
| 11 | MP0002160_abnormal_reproductive_system | 1.86137834 |
| 12 | MP0003011_delayed_dark_adaptation | 1.79518319 |
| 13 | MP0005623_abnormal_meninges_morphology | 1.71371851 |
| 14 | MP0003646_muscle_fatigue | 1.39762805 |
| 15 | MP0004233_abnormal_muscle_weight | 1.29086311 |
| 16 | MP0001765_abnormal_ion_homeostasis | 1.15992499 |
| 17 | MP0005647_abnormal_sex_gland | 1.15032496 |
| 18 | MP0001984_abnormal_olfaction | 1.12440462 |
| 19 | MP0009046_muscle_twitch | 1.11226946 |
| 20 | MP0002282_abnormal_trachea_morphology | 1.03094942 |
| 21 | MP0008058_abnormal_DNA_repair | 1.01077635 |
| 22 | MP0008995_early_reproductive_senescence | 0.97586893 |
| 23 | MP0005389_reproductive_system_phenotype | 0.96595784 |
| 24 | MP0004019_abnormal_vitamin_homeostasis | 0.75957182 |
| 25 | MP0002928_abnormal_bile_duct | 0.66251720 |
| 26 | MP0000751_myopathy | 0.61766757 |
| 27 | MP0009697_abnormal_copulation | 0.59525528 |
| 28 | MP0004036_abnormal_muscle_relaxation | 0.58661028 |
| 29 | MP0002736_abnormal_nociception_after | 0.57384724 |
| 30 | MP0005551_abnormal_eye_electrophysiolog | 0.57342230 |
| 31 | MP0005636_abnormal_mineral_homeostasis | 0.56967738 |
| 32 | MP0009278_abnormal_bone_marrow | 0.56929612 |
| 33 | MP0005253_abnormal_eye_physiology | 0.55761548 |
| 34 | MP0002234_abnormal_pharynx_morphology | 0.55165338 |
| 35 | MP0010094_abnormal_chromosome_stability | 0.54048426 |
| 36 | MP0000569_abnormal_digit_pigmentation | 0.51142275 |
| 37 | MP0005397_hematopoietic_system_phenotyp | 0.50207598 |
| 38 | MP0001545_abnormal_hematopoietic_system | 0.50207598 |
| 39 | MP0001324_abnormal_eye_pigmentation | 0.47241400 |
| 40 | MP0005423_abnormal_somatic_nervous | 0.45251471 |
| 41 | MP0002139_abnormal_hepatobiliary_system | 0.44356231 |
| 42 | MP0006036_abnormal_mitochondrial_physio | 0.43914856 |
| 43 | MP0001968_abnormal_touch/_nociception | 0.42176871 |
| 44 | MP0001293_anophthalmia | 0.41714527 |
| 45 | MP0005666_abnormal_adipose_tissue | 0.41346717 |
| 46 | MP0001348_abnormal_lacrimal_gland | 0.40729783 |
| 47 | MP0003786_premature_aging | 0.39957790 |
| 48 | MP0003699_abnormal_female_reproductive | 0.39339653 |
| 49 | MP0003950_abnormal_plasma_membrane | 0.38587579 |
| 50 | MP0002132_abnormal_respiratory_system | 0.38416498 |
| 51 | MP0005391_vision/eye_phenotype | 0.38316255 |
| 52 | MP0003115_abnormal_respiratory_system | 0.37684782 |
| 53 | MP0008057_abnormal_DNA_replication | 0.37389556 |
| 54 | MP0002269_muscular_atrophy | 0.36672415 |
| 55 | MP0003633_abnormal_nervous_system | 0.35525745 |
| 56 | MP0005377_hearing/vestibular/ear_phenot | 0.35127871 |
| 57 | MP0003878_abnormal_ear_physiology | 0.35127871 |
| 58 | MP0003329_amyloid_beta_deposits | 0.33336646 |
| 59 | MP0001764_abnormal_homeostasis | 0.32833741 |
| 60 | MP0004133_heterotaxia | 0.32371603 |
| 61 | MP0001119_abnormal_female_reproductive | 0.31675364 |
| 62 | MP0005646_abnormal_pituitary_gland | 0.31104972 |
| 63 | MP0002138_abnormal_hepatobiliary_system | 0.30803231 |
| 64 | MP0000358_abnormal_cell_content/ | 0.29681804 |
| 65 | MP0005451_abnormal_body_composition | 0.29026279 |
| 66 | MP0003787_abnormal_imprinting | 0.28829632 |
| 67 | MP0000579_abnormal_nail_morphology | 0.26644389 |
| 68 | MP0003631_nervous_system_phenotype | 0.25939444 |
| 69 | MP0005365_abnormal_bile_salt | 0.25853166 |
| 70 | MP0002169_no_abnormal_phenotype | 0.24685739 |
| 71 | MP0002873_normal_phenotype | 0.24455365 |
| 72 | MP0003252_abnormal_bile_duct | 0.22594217 |
| 73 | MP0001529_abnormal_vocalization | 0.22578735 |
| 74 | MP0008875_abnormal_xenobiotic_pharmacok | 0.22533372 |
| 75 | MP0002092_abnormal_eye_morphology | 0.22263111 |
| 76 | MP0000462_abnormal_digestive_system | 0.21561057 |
| 77 | MP0009115_abnormal_fat_cell | 0.20430872 |
| 78 | MP0004811_abnormal_neuron_physiology | 0.20086288 |
| 79 | MP0002572_abnormal_emotion/affect_behav | 0.19501212 |
| 80 | MP0002229_neurodegeneration | 0.19309833 |
| 81 | MP0002152_abnormal_brain_morphology | 0.18023439 |
| 82 | MP0002102_abnormal_ear_morphology | 0.17890238 |
| 83 | MP0002971_abnormal_brown_adipose | 0.17745835 |
| 84 | MP0003183_abnormal_peptide_metabolism | 0.17448390 |
| 85 | MP0004808_abnormal_hematopoietic_stem | 0.17406638 |
| 86 | MP0008872_abnormal_physiological_respon | 0.17292657 |
| 87 | MP0006072_abnormal_retinal_apoptosis | 0.17015336 |
| 88 | MP0004270_analgesia | 0.16108599 |
| 89 | MP0000313_abnormal_cell_death | 0.15771665 |
| 90 | MP0003861_abnormal_nervous_system | 0.15355127 |
| 91 | MP0001486_abnormal_startle_reflex | 0.15260320 |
| 92 | MP0005195_abnormal_posterior_eye | 0.15062860 |
| 93 | MP0001986_abnormal_taste_sensitivity | 0.14983240 |
| 94 | MP0004145_abnormal_muscle_electrophysio | 0.14960510 |
| 95 | MP0002133_abnormal_respiratory_system | 0.14945965 |
| 96 | MP0005388_respiratory_system_phenotype | 0.14945965 |
| 97 | MP0005319_abnormal_enzyme/_coenzyme | 0.13945759 |
| 98 | MP0003942_abnormal_urinary_system | 0.13938625 |
| 99 | MP0003948_abnormal_gas_homeostasis | 0.13889515 |
| 100 | MP0000604_amyloidosis | 0.13754627 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal respiratory motile cilium physiology (HP:0012261) | 9.56936563 |
| 2 | Abnormal respiratory motile cilium morphology (HP:0005938) | 9.10532764 |
| 3 | Abnormal respiratory epithelium morphology (HP:0012253) | 9.10532764 |
| 4 | Abnormal ciliary motility (HP:0012262) | 7.91462685 |
| 5 | Rhinitis (HP:0012384) | 7.40292112 |
| 6 | Chronic bronchitis (HP:0004469) | 7.35333123 |
| 7 | Infertility (HP:0000789) | 6.59600987 |
| 8 | Nasal polyposis (HP:0100582) | 6.29534073 |
| 9 | Abnormality of the nasal mucosa (HP:0000433) | 5.16674591 |
| 10 | Male infertility (HP:0003251) | 4.48328484 |
| 11 | Bronchitis (HP:0012387) | 4.37455990 |
| 12 | Bronchiectasis (HP:0002110) | 4.31482636 |
| 13 | Nephronophthisis (HP:0000090) | 4.11873017 |
| 14 | Recurrent sinusitis (HP:0011108) | 3.62041630 |
| 15 | Abnormal spermatogenesis (HP:0008669) | 3.37645689 |
| 16 | Recurrent otitis media (HP:0000403) | 3.20439844 |
| 17 | Abnormality of the renal medulla (HP:0100957) | 3.11333987 |
| 18 | Tubulointerstitial nephritis (HP:0001970) | 2.87866614 |
| 19 | Medial flaring of the eyebrow (HP:0010747) | 2.79111095 |
| 20 | Tubular atrophy (HP:0000092) | 2.65611348 |
| 21 | Molar tooth sign on MRI (HP:0002419) | 2.60879182 |
| 22 | Abnormality of midbrain morphology (HP:0002418) | 2.60879182 |
| 23 | Decreased central vision (HP:0007663) | 2.48403264 |
| 24 | Tubulointerstitial abnormality (HP:0001969) | 2.43571840 |
| 25 | Recurrent bronchitis (HP:0002837) | 2.38871234 |
| 26 | Postaxial foot polydactyly (HP:0001830) | 2.24648475 |
| 27 | Azoospermia (HP:0000027) | 2.19984239 |
| 28 | Dyschromatopsia (HP:0007641) | 2.17437856 |
| 29 | Gonadotropin excess (HP:0000837) | 2.02782847 |
| 30 | Absent/shortened dynein arms (HP:0200106) | 13.4184257 |
| 31 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 13.4184257 |
| 32 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 13.3376018 |
| 33 | Cholecystitis (HP:0001082) | 1.99932024 |
| 34 | Abnormal gallbladder physiology (HP:0012438) | 1.99932024 |
| 35 | Congenital hepatic fibrosis (HP:0002612) | 1.97694967 |
| 36 | Impulsivity (HP:0100710) | 1.97385647 |
| 37 | Tubulointerstitial fibrosis (HP:0005576) | 1.93952508 |
| 38 | Choroideremia (HP:0001139) | 1.93498953 |
| 39 | Bile duct proliferation (HP:0001408) | 1.92176077 |
| 40 | Abnormal biliary tract physiology (HP:0012439) | 1.92176077 |
| 41 | Stage 5 chronic kidney disease (HP:0003774) | 1.89536039 |
| 42 | Abnormal drinking behavior (HP:0030082) | 1.87375871 |
| 43 | Polydipsia (HP:0001959) | 1.87375871 |
| 44 | Abnormality of the renal cortex (HP:0011035) | 1.81488009 |
| 45 | Fatigue (HP:0012378) | 1.79013927 |
| 46 | Abnormality of renal excretion (HP:0011036) | 1.74289073 |
| 47 | Facial cleft (HP:0002006) | 1.73033028 |
| 48 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 1.67052120 |
| 49 | Pancreatic fibrosis (HP:0100732) | 1.65348988 |
| 50 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.65286651 |
| 51 | Rhabdomyolysis (HP:0003201) | 1.62166976 |
| 52 | Gait imbalance (HP:0002141) | 1.60163803 |
| 53 | Congenital primary aphakia (HP:0007707) | 1.59637080 |
| 54 | Abnormality of permanent molar morphology (HP:0011071) | 1.57649627 |
| 55 | Abnormality of the dental root (HP:0006486) | 1.57649627 |
| 56 | Taurodontia (HP:0000679) | 1.57649627 |
| 57 | Cystic liver disease (HP:0006706) | 1.56400749 |
| 58 | Postaxial hand polydactyly (HP:0001162) | 1.55957655 |
| 59 | Fibular hypoplasia (HP:0003038) | 1.51639818 |
| 60 | Sensory axonal neuropathy (HP:0003390) | 1.51262342 |
| 61 | Asymmetric septal hypertrophy (HP:0001670) | 1.49583614 |
| 62 | Abnormality of molar (HP:0011077) | 1.47217427 |
| 63 | Abnormality of molar morphology (HP:0011070) | 1.47217427 |
| 64 | Abnormality of the dental pulp (HP:0006479) | 1.46124853 |
| 65 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.45419640 |
| 66 | Oculomotor apraxia (HP:0000657) | 1.44391847 |
| 67 | Double outlet right ventricle (HP:0001719) | 1.44203139 |
| 68 | Congenital malformation of the right heart (HP:0011723) | 1.44203139 |
| 69 | Spastic tetraparesis (HP:0001285) | 1.43738911 |
| 70 | Microglossia (HP:0000171) | 1.42767827 |
| 71 | Short ribs (HP:0000773) | 1.42154019 |
| 72 | True hermaphroditism (HP:0010459) | 1.41509718 |
| 73 | Renal dysplasia (HP:0000110) | 1.39012314 |
| 74 | Hemorrhage of the eye (HP:0011885) | 1.38859673 |
| 75 | Chronic sinusitis (HP:0011109) | 1.37466111 |
| 76 | Abnormal urine output (HP:0012590) | 1.37240941 |
| 77 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 1.35220998 |
| 78 | Absent frontal sinuses (HP:0002688) | 1.34785344 |
| 79 | Vascular calcification (HP:0004934) | 1.34156036 |
| 80 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.32763488 |
| 81 | Nephrogenic diabetes insipidus (HP:0009806) | 1.32093442 |
| 82 | Median cleft lip (HP:0000161) | 1.30275843 |
| 83 | Chronic hepatic failure (HP:0100626) | 1.30146509 |
| 84 | Heterotopia (HP:0002282) | 1.29058360 |
| 85 | Abnormality of dentin (HP:0010299) | 1.28661143 |
| 86 | Bundle branch block (HP:0011710) | 1.27414191 |
| 87 | Abnormality of the lower motor neuron (HP:0002366) | 1.27172648 |
| 88 | Attenuation of retinal blood vessels (HP:0007843) | 1.25764248 |
| 89 | Poor coordination (HP:0002370) | 1.25695098 |
| 90 | Genital tract atresia (HP:0001827) | 1.24359445 |
| 91 | Abnormality of saccadic eye movements (HP:0000570) | 1.24284135 |
| 92 | Short thorax (HP:0010306) | 1.23883740 |
| 93 | Nephropathy (HP:0000112) | 1.23830770 |
| 94 | Neurofibrillary tangles (HP:0002185) | 1.23206786 |
| 95 | Vaginal atresia (HP:0000148) | 1.23059477 |
| 96 | Cardiovascular calcification (HP:0011915) | 1.20598136 |
| 97 | Optic nerve hypoplasia (HP:0000609) | 1.20580257 |
| 98 | Ventricular fibrillation (HP:0001663) | 1.19959093 |
| 99 | J-shaped sella turcica (HP:0002680) | 1.18549440 |
| 100 | Cone-shaped epiphyses of the phalanges of the hand (HP:0010230) | 1.17077650 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK3 | 8.84809331 |
| 2 | PDK4 | 8.84809331 |
| 3 | PDK2 | 5.71632075 |
| 4 | TESK1 | 5.41569073 |
| 5 | PRKD3 | 4.01850366 |
| 6 | ICK | 3.67732748 |
| 7 | PTK2B | 2.19517487 |
| 8 | STK39 | 2.10896076 |
| 9 | WNK4 | 2.03528646 |
| 10 | STK38 | 1.72779073 |
| 11 | PDK1 | 1.43114334 |
| 12 | PNCK | 1.40634432 |
| 13 | PKN2 | 1.31672542 |
| 14 | NEK2 | 1.25098402 |
| 15 | DYRK1B | 1.23255719 |
| 16 | IRAK1 | 0.98054073 |
| 17 | TTK | 0.80678692 |
| 18 | FLT3 | 0.78185951 |
| 19 | LMTK2 | 0.77009288 |
| 20 | STK3 | 0.75378556 |
| 21 | PDPK1 | 0.73884319 |
| 22 | PASK | 0.73515390 |
| 23 | DYRK3 | 0.72964291 |
| 24 | IRAK2 | 0.72333096 |
| 25 | STK38L | 0.71374935 |
| 26 | TYRO3 | 0.70974694 |
| 27 | WNK1 | 0.70935983 |
| 28 | MAP2K6 | 0.62834044 |
| 29 | MAPK15 | 0.60934911 |
| 30 | RIPK4 | 0.57084025 |
| 31 | PINK1 | 0.56996469 |
| 32 | CCNB1 | 0.54864632 |
| 33 | EEF2K | 0.53473881 |
| 34 | MUSK | 0.45949119 |
| 35 | PAK1 | 0.45635015 |
| 36 | CHEK2 | 0.45543493 |
| 37 | CLK1 | 0.40910079 |
| 38 | PRKCG | 0.37653443 |
| 39 | TESK2 | 0.33692024 |
| 40 | NTRK2 | 0.33162847 |
| 41 | PAK2 | 0.32420837 |
| 42 | CHEK1 | 0.32038871 |
| 43 | CDK12 | 0.31965663 |
| 44 | CAMK1G | 0.30252081 |
| 45 | STK16 | 0.26192256 |
| 46 | GRK1 | 0.26150858 |
| 47 | FRK | 0.25097340 |
| 48 | CAMKK1 | 0.24998555 |
| 49 | WNK3 | 0.24226303 |
| 50 | ATM | 0.24005875 |
| 51 | MAPKAPK5 | 0.21446593 |
| 52 | STK11 | 0.21078457 |
| 53 | ATR | 0.20632130 |
| 54 | PRKCQ | 0.19189199 |
| 55 | OXSR1 | 0.18621595 |
| 56 | PKN1 | 0.17702819 |
| 57 | MARK2 | 0.16381985 |
| 58 | WEE1 | 0.16310107 |
| 59 | MAP3K10 | 0.16022062 |
| 60 | PRKG2 | 0.15182802 |
| 61 | NEK6 | 0.13565932 |
| 62 | PRKCZ | 0.13274521 |
| 63 | CDK15 | 0.12711088 |
| 64 | RPS6KB1 | 0.12127421 |
| 65 | PLK1 | 0.12016733 |
| 66 | PRKAA1 | 0.11173784 |
| 67 | BRSK2 | 0.10468833 |
| 68 | CDK18 | 0.09598774 |
| 69 | PRKG1 | 0.09003959 |
| 70 | MTOR | 0.08866439 |
| 71 | MAP2K7 | 0.08825072 |
| 72 | CSNK2A1 | 0.08333437 |
| 73 | ZAP70 | 0.07808137 |
| 74 | CDK11A | 0.07514572 |
| 75 | EIF2AK2 | 0.05913707 |
| 76 | CAMK2A | 0.05760350 |
| 77 | PLK4 | 0.05719670 |
| 78 | PRKCA | 0.04805989 |
| 79 | PRKACG | 0.04714684 |
| 80 | GSK3B | 0.04150254 |
| 81 | PRKCB | 0.04002349 |
| 82 | CSNK2A2 | 0.04000939 |
| 83 | CDK14 | 0.03711723 |
| 84 | PRKCD | 0.02741742 |
| 85 | RPS6KA1 | 0.02689720 |
| 86 | PDGFRB | 0.02577838 |
| 87 | CSF1R | 0.02489685 |
| 88 | YES1 | 0.02463422 |
| 89 | BRSK1 | 0.02338296 |
| 90 | FGFR2 | 0.01796423 |
| 91 | CDK19 | 0.01739358 |
| 92 | PRKACA | 0.01356650 |
| 93 | CSNK1D | 0.01202883 |
| 94 | LATS1 | 0.00671185 |
| 95 | RET | 0.00531825 |
| 96 | ADRBK2 | -0.0136610 |
| 97 | GSK3A | -0.0123647 |
| 98 | MAPK8 | -0.0054623 |
| 99 | PAK4 | -0.0038495 |
| 100 | CDK1 | -0.0004190 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 4.60773918 |
| 2 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 4.38722551 |
| 3 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 3.98216088 |
| 4 | Pyruvate metabolism_Homo sapiens_hsa00620 | 3.49799943 |
| 5 | Propanoate metabolism_Homo sapiens_hsa00640 | 3.05460568 |
| 6 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 2.76647278 |
| 7 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 2.68656436 |
| 8 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 2.62256197 |
| 9 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 2.61348313 |
| 10 | Selenocompound metabolism_Homo sapiens_hsa00450 | 2.55807064 |
| 11 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 2.48250719 |
| 12 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 2.14978634 |
| 13 | Basal transcription factors_Homo sapiens_hsa03022 | 2.13169715 |
| 14 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 2.03385114 |
| 15 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 2.02699194 |
| 16 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.92531391 |
| 17 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.90496141 |
| 18 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.76757704 |
| 19 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.69813154 |
| 20 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.65805179 |
| 21 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.61571053 |
| 22 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.46532119 |
| 23 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.43483286 |
| 24 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.42416411 |
| 25 | Mineral absorption_Homo sapiens_hsa04978 | 1.40759090 |
| 26 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.40604847 |
| 27 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.34270675 |
| 28 | Carbon metabolism_Homo sapiens_hsa01200 | 1.32288042 |
| 29 | Renin-angiotensin system_Homo sapiens_hsa04614 | 1.31323959 |
| 30 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.28938352 |
| 31 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.24439438 |
| 32 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.21752263 |
| 33 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.21595245 |
| 34 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.17972961 |
| 35 | Purine metabolism_Homo sapiens_hsa00230 | 1.16722578 |
| 36 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.15821611 |
| 37 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.14828795 |
| 38 | Renin secretion_Homo sapiens_hsa04924 | 1.12195448 |
| 39 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.09730485 |
| 40 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.04171144 |
| 41 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.02698013 |
| 42 | Huntingtons disease_Homo sapiens_hsa05016 | 1.02692831 |
| 43 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 1.01883840 |
| 44 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.94416350 |
| 45 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.93738108 |
| 46 | Bile secretion_Homo sapiens_hsa04976 | 0.93316830 |
| 47 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.90022875 |
| 48 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.84704126 |
| 49 | Insulin secretion_Homo sapiens_hsa04911 | 0.82762175 |
| 50 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.80057240 |
| 51 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.70524613 |
| 52 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.69496311 |
| 53 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.68659678 |
| 54 | Long-term potentiation_Homo sapiens_hsa04720 | 0.68073721 |
| 55 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.66860409 |
| 56 | ABC transporters_Homo sapiens_hsa02010 | 0.64867354 |
| 57 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.64431488 |
| 58 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.63969965 |
| 59 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.63434630 |
| 60 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.62632740 |
| 61 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.60502438 |
| 62 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.59910911 |
| 63 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.58628152 |
| 64 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.58461122 |
| 65 | Retinol metabolism_Homo sapiens_hsa00830 | 0.57093864 |
| 66 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.54029569 |
| 67 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.53735784 |
| 68 | Taste transduction_Homo sapiens_hsa04742 | 0.53712370 |
| 69 | Galactose metabolism_Homo sapiens_hsa00052 | 0.53114468 |
| 70 | Salivary secretion_Homo sapiens_hsa04970 | 0.51565312 |
| 71 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.51066510 |
| 72 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.47920208 |
| 73 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.46802314 |
| 74 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.46002626 |
| 75 | Metabolic pathways_Homo sapiens_hsa01100 | 0.45698502 |
| 76 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.45402430 |
| 77 | RNA transport_Homo sapiens_hsa03013 | 0.39421671 |
| 78 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.37475367 |
| 79 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.37116824 |
| 80 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.35274025 |
| 81 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.32483088 |
| 82 | Legionellosis_Homo sapiens_hsa05134 | 0.32462160 |
| 83 | Circadian entrainment_Homo sapiens_hsa04713 | 0.32419013 |
| 84 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.31356007 |
| 85 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.29530394 |
| 86 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.29404801 |
| 87 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.29227673 |
| 88 | Endocytosis_Homo sapiens_hsa04144 | 0.27193702 |
| 89 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.26780692 |
| 90 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.23759625 |
| 91 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.21136114 |
| 92 | Alcoholism_Homo sapiens_hsa05034 | 0.19585770 |
| 93 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.17477112 |
| 94 | Cocaine addiction_Homo sapiens_hsa05030 | 0.14643703 |
| 95 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.13804575 |
| 96 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.12520731 |
| 97 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.11850500 |
| 98 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.08351210 |
| 99 | Olfactory transduction_Homo sapiens_hsa04740 | 0.07942166 |
| 100 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.06000973 |

