

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | reproduction (GO:0000003) | 9.82124057 |
| 2 | spermatid development (GO:0007286) | 9.58479043 |
| 3 | motile cilium assembly (GO:0044458) | 9.32107044 |
| 4 | regulation of cilium movement (GO:0003352) | 8.71026505 |
| 5 | cilium movement (GO:0003341) | 8.62679447 |
| 6 | single fertilization (GO:0007338) | 8.03486600 |
| 7 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 7.89627945 |
| 8 | piRNA metabolic process (GO:0034587) | 7.88776345 |
| 9 | male meiosis (GO:0007140) | 7.49689482 |
| 10 | sperm capacitation (GO:0048240) | 7.26906025 |
| 11 | synaptonemal complex organization (GO:0070193) | 7.08724734 |
| 12 | synaptonemal complex assembly (GO:0007130) | 6.88395079 |
| 13 | fertilization (GO:0009566) | 6.72777790 |
| 14 | * spermatogenesis (GO:0007283) | 6.48870861 |
| 15 | * male gamete generation (GO:0048232) | 6.47003185 |
| 16 | negative regulation of inclusion body assembly (GO:0090084) | 6.43265900 |
| 17 | microtubule depolymerization (GO:0007019) | 6.38185311 |
| 18 | organic cation transport (GO:0015695) | 6.20623503 |
| 19 | * gamete generation (GO:0007276) | 5.96054089 |
| 20 | ventricular system development (GO:0021591) | 5.63207367 |
| 21 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 5.44850863 |
| 22 | germ cell development (GO:0007281) | 5.39789878 |
| 23 | calcium ion-dependent exocytosis (GO:0017156) | 5.35862114 |
| 24 | male meiosis I (GO:0007141) | 5.26616809 |
| 25 | regulation of inclusion body assembly (GO:0090083) | 5.24879464 |
| 26 | DNA methylation involved in gamete generation (GO:0043046) | 5.19683816 |
| 27 | regulation of microtubule-based movement (GO:0060632) | 5.16382059 |
| 28 | glycerol ether metabolic process (GO:0006662) | 4.98808206 |
| 29 | cell recognition (GO:0008037) | 4.95848464 |
| 30 | chromosome organization involved in meiosis (GO:0070192) | 4.75478509 |
| 31 | * multicellular organismal reproductive process (GO:0048609) | 4.70965586 |
| 32 | ether metabolic process (GO:0018904) | 4.60468755 |
| 33 | seminiferous tubule development (GO:0072520) | 4.47684878 |
| 34 | meiotic nuclear division (GO:0007126) | 4.29138076 |
| 35 | microtubule severing (GO:0051013) | 4.23722614 |
| 36 | left/right pattern formation (GO:0060972) | 4.18261886 |
| 37 | meiosis I (GO:0007127) | 4.14171489 |
| 38 | chromosome condensation (GO:0030261) | 4.00656017 |
| 39 | DNA packaging (GO:0006323) | 3.98670426 |
| 40 | genitalia morphogenesis (GO:0035112) | 3.84451658 |
| 41 | * multicellular organismal development (GO:0007275) | 3.82990756 |
| 42 | meiotic cell cycle (GO:0051321) | 3.79428007 |
| 43 | spermatid nucleus differentiation (GO:0007289) | 3.77882709 |
| 44 | chaperone-mediated protein complex assembly (GO:0051131) | 3.76384235 |
| 45 | monoubiquitinated protein deubiquitination (GO:0035520) | 3.71381937 |
| 46 | microtubule polymerization or depolymerization (GO:0031109) | 3.37175361 |
| 47 | protein localization to cilium (GO:0061512) | 3.32773613 |
| 48 | protein polyglutamylation (GO:0018095) | 3.31980295 |
| 49 | lactate metabolic process (GO:0006089) | 3.25327864 |
| 50 | nucleoside diphosphate phosphorylation (GO:0006165) | 3.24231671 |
| 51 | GTP biosynthetic process (GO:0006183) | 3.23437747 |
| 52 | glycolytic process (GO:0006096) | 3.20310289 |
| 53 | sexual reproduction (GO:0019953) | 3.19583497 |
| 54 | single strand break repair (GO:0000012) | 3.19195634 |
| 55 | protein K11-linked deubiquitination (GO:0035871) | 3.15760257 |
| 56 | protein refolding (GO:0042026) | 3.13117621 |
| 57 | polyol catabolic process (GO:0046174) | 3.10639393 |
| 58 | alditol metabolic process (GO:0019400) | 3.10205916 |
| 59 | regulation of spindle checkpoint (GO:0090231) | 3.07236865 |
| 60 | carnitine transport (GO:0015879) | 3.03318242 |
| 61 | amino-acid betaine transport (GO:0015838) | 3.03318242 |
| 62 | sequestering of actin monomers (GO:0042989) | 3.02788420 |
| 63 | negative regulation of organelle assembly (GO:1902116) | 2.99234901 |
| 64 | microtubule-based movement (GO:0007018) | 2.96191337 |
| 65 | synapsis (GO:0007129) | 2.90452948 |
| 66 | cilium organization (GO:0044782) | 2.89376212 |
| 67 | carnitine transmembrane transport (GO:1902603) | 2.88117445 |
| 68 | UTP biosynthetic process (GO:0006228) | 2.87092940 |
| 69 | axoneme assembly (GO:0035082) | 2.86138775 |
| 70 | meiotic cell cycle process (GO:1903046) | 2.77675916 |
| 71 | centriole assembly (GO:0098534) | 2.77302887 |
| 72 | cilium assembly (GO:0042384) | 2.77239635 |
| 73 | cellular component assembly involved in morphogenesis (GO:0010927) | 2.75265981 |
| 74 | interferon-gamma secretion (GO:0072643) | 2.74561320 |
| 75 | nucleus organization (GO:0006997) | 2.70550041 |
| 76 | intraciliary transport (GO:0042073) | 2.64956729 |
| 77 | mitotic sister chromatid cohesion (GO:0007064) | 2.64947241 |
| 78 | gene silencing by RNA (GO:0031047) | 2.62438822 |
| 79 | glycerol metabolic process (GO:0006071) | 2.62200838 |
| 80 | UTP metabolic process (GO:0046051) | 2.61318306 |
| 81 | cilium morphogenesis (GO:0060271) | 2.58441918 |
| 82 | regulation of protein kinase C signaling (GO:0090036) | 2.57654937 |
| 83 | RNA destabilization (GO:0050779) | 2.46386182 |
| 84 | calcium ion import (GO:0070509) | 2.44315323 |
| 85 | nuclear pore complex assembly (GO:0051292) | 2.43901932 |
| 86 | regulation of protein kinase A signaling (GO:0010738) | 2.42355175 |
| 87 | fusion of sperm to egg plasma membrane (GO:0007342) | 14.8090787 |
| 88 | sperm motility (GO:0030317) | 14.2568058 |
| 89 | multicellular organism reproduction (GO:0032504) | 11.7142136 |
| 90 | acrosome reaction (GO:0007340) | 11.7087963 |
| 91 | acrosome assembly (GO:0001675) | 11.6012418 |
| 92 | sperm-egg recognition (GO:0035036) | 11.3998662 |
| 93 | cilium or flagellum-dependent cell motility (GO:0001539) | 11.3125944 |
| 94 | plasma membrane fusion (GO:0045026) | 11.2910171 |
| 95 | cell wall macromolecule catabolic process (GO:0016998) | 10.9954006 |
| 96 | cell wall macromolecule metabolic process (GO:0044036) | 10.9954006 |
| 97 | axonemal dynein complex assembly (GO:0070286) | 10.5989064 |
| 98 | binding of sperm to zona pellucida (GO:0007339) | 10.3164224 |
| 99 | cell-cell recognition (GO:0009988) | 10.1695055 |
| 100 | epithelial cilium movement (GO:0003351) | 10.1464129 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 8.43847189 |
| 2 | EZH2_22144423_ChIP-Seq_EOC_Human | 4.72221676 |
| 3 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 4.18959639 |
| 4 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 3.35737831 |
| 5 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.91321906 |
| 6 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.40359611 |
| 7 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 2.27856910 |
| 8 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.24270894 |
| 9 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.14959514 |
| 10 | VDR_22108803_ChIP-Seq_LS180_Human | 2.12072199 |
| 11 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 2.11844393 |
| 12 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.07410515 |
| 13 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 2.04561775 |
| 14 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.92687716 |
| 15 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.90025418 |
| 16 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.85470589 |
| 17 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.84618703 |
| 18 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 1.81163424 |
| 19 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.75152630 |
| 20 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.70711405 |
| 21 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.70336790 |
| 22 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.68966869 |
| 23 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.68530932 |
| 24 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.65114330 |
| 25 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.64427040 |
| 26 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.62425400 |
| 27 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.57103352 |
| 28 | KDM2B_26808549_Chip-Seq_REH_Human | 1.55481667 |
| 29 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.54493823 |
| 30 | GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.53649866 |
| 31 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.52256127 |
| 32 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.49777159 |
| 33 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.46820206 |
| 34 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.46820206 |
| 35 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.44634624 |
| 36 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.40549378 |
| 37 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.39606378 |
| 38 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.39593398 |
| 39 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.39383546 |
| 40 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.38625718 |
| 41 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.38625718 |
| 42 | FUS_26573619_Chip-Seq_HEK293_Human | 1.37776042 |
| 43 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.36710842 |
| 44 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.34436427 |
| 45 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.33304771 |
| 46 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 1.31631463 |
| 47 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 1.29374340 |
| 48 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.28220039 |
| 49 | LUZP1_20508642_ChIP-Seq_ESCs_Mouse | 1.28121965 |
| 50 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.27413963 |
| 51 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.27274200 |
| 52 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.26273199 |
| 53 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.26025645 |
| 54 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.25658057 |
| 55 | P53_22387025_ChIP-Seq_ESCs_Mouse | 1.25334686 |
| 56 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 1.22666354 |
| 57 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.22014413 |
| 58 | OCT4_18555785_Chip-Seq_ESCs_Mouse | 1.21310573 |
| 59 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.20365693 |
| 60 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.20309905 |
| 61 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 1.19044001 |
| 62 | * GATA3_21867929_ChIP-Seq_TH1_Mouse | 1.16670245 |
| 63 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 1.16203349 |
| 64 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.14787815 |
| 65 | P300_18555785_Chip-Seq_ESCs_Mouse | 1.14208987 |
| 66 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.12892962 |
| 67 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.12503519 |
| 68 | KLF4_18555785_Chip-Seq_ESCs_Mouse | 1.10654770 |
| 69 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.10208492 |
| 70 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 1.08953156 |
| 71 | EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 1.08504651 |
| 72 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 1.06869208 |
| 73 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.06670366 |
| 74 | FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.05735604 |
| 75 | ESRRB_18555785_Chip-Seq_ESCs_Mouse | 1.04549507 |
| 76 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.04360020 |
| 77 | CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.03522262 |
| 78 | PU1_27457419_Chip-Seq_LIVER_Mouse | 1.01974131 |
| 79 | PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 1.01783087 |
| 80 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 1.01632526 |
| 81 | SOX9_26525672_Chip-Seq_HEART_Mouse | 1.01409452 |
| 82 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 1.00750374 |
| 83 | E2F1_18555785_Chip-Seq_ESCs_Mouse | 1.00597243 |
| 84 | SOX2_18555785_Chip-Seq_ESCs_Mouse | 1.00483103 |
| 85 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 0.99677050 |
| 86 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 0.98575238 |
| 87 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 0.97838636 |
| 88 | CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.96770249 |
| 89 | PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse | 0.96215511 |
| 90 | NMYC_18555785_Chip-Seq_ESCs_Mouse | 0.94061210 |
| 91 | MYC_27129775_Chip-Seq_CORNEA_Mouse | 0.92915309 |
| 92 | CTCF_18555785_Chip-Seq_ESCs_Mouse | 0.91629328 |
| 93 | PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 0.91209257 |
| 94 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 0.91060795 |
| 95 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.90382292 |
| 96 | HTT_18923047_ChIP-ChIP_STHdh_Human | 0.89936506 |
| 97 | SPI1_26923725_Chip-Seq_HPCs_Mouse | 0.89880692 |
| 98 | RUNX1_27457419_Chip-Seq_LIVER_Mouse | 0.89870651 |
| 99 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 0.89717873 |
| 100 | NFYB_21822215_ChIP-Seq_K562_Human | 0.89408342 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 6.11574688 |
| 2 | MP0001929_abnormal_gametogenesis | 5.42639862 |
| 3 | MP0008877_abnormal_DNA_methylation | 4.28574814 |
| 4 | MP0002210_abnormal_sex_determination | 3.39650976 |
| 5 | MP0002161_abnormal_fertility/fecundity | 3.31110471 |
| 6 | MP0005670_abnormal_white_adipose | 2.88540243 |
| 7 | MP0001145_abnormal_male_reproductive | 2.81971264 |
| 8 | MP0000653_abnormal_sex_gland | 2.43941363 |
| 9 | MP0002653_abnormal_ependyma_morphology | 2.21217990 |
| 10 | MP0005410_abnormal_fertilization | 16.3947388 |
| 11 | MP0005623_abnormal_meninges_morphology | 1.57051265 |
| 12 | MP0002160_abnormal_reproductive_system | 1.51595642 |
| 13 | MP0005647_abnormal_sex_gland | 1.33704320 |
| 14 | MP0002282_abnormal_trachea_morphology | 1.33460054 |
| 15 | MP0003646_muscle_fatigue | 1.24669730 |
| 16 | MP0001765_abnormal_ion_homeostasis | 1.22836654 |
| 17 | MP0008995_early_reproductive_senescence | 1.16124696 |
| 18 | MP0004233_abnormal_muscle_weight | 1.08658267 |
| 19 | MP0009046_muscle_twitch | 0.96873190 |
| 20 | MP0005389_reproductive_system_phenotype | 0.83003117 |
| 21 | MP0003950_abnormal_plasma_membrane | 0.80278212 |
| 22 | MP0001984_abnormal_olfaction | 0.75360981 |
| 23 | MP0001727_abnormal_embryo_implantation | 0.74564435 |
| 24 | MP0003011_delayed_dark_adaptation | 0.72276795 |
| 25 | MP0003878_abnormal_ear_physiology | 0.70889488 |
| 26 | MP0005377_hearing/vestibular/ear_phenot | 0.70889488 |
| 27 | MP0005257_abnormal_intraocular_pressure | 0.69462665 |
| 28 | MP0004742_abnormal_vestibular_system | 0.66868372 |
| 29 | MP0004036_abnormal_muscle_relaxation | 0.63643511 |
| 30 | MP0003115_abnormal_respiratory_system | 0.63162953 |
| 31 | MP0001764_abnormal_homeostasis | 0.61738444 |
| 32 | MP0001502_abnormal_circadian_rhythm | 0.61129874 |
| 33 | MP0008058_abnormal_DNA_repair | 0.59206892 |
| 34 | MP0001348_abnormal_lacrimal_gland | 0.58832395 |
| 35 | MP0005636_abnormal_mineral_homeostasis | 0.57591815 |
| 36 | MP0005666_abnormal_adipose_tissue | 0.57290846 |
| 37 | MP0002928_abnormal_bile_duct | 0.56292319 |
| 38 | MP0002234_abnormal_pharynx_morphology | 0.53979752 |
| 39 | MP0001440_abnormal_grooming_behavior | 0.53949795 |
| 40 | MP0002139_abnormal_hepatobiliary_system | 0.53052257 |
| 41 | MP0010094_abnormal_chromosome_stability | 0.52938371 |
| 42 | MP0000569_abnormal_digit_pigmentation | 0.51532132 |
| 43 | MP0003699_abnormal_female_reproductive | 0.49505344 |
| 44 | MP0005253_abnormal_eye_physiology | 0.48329952 |
| 45 | MP0009278_abnormal_bone_marrow | 0.46265412 |
| 46 | MP0008057_abnormal_DNA_replication | 0.44770061 |
| 47 | MP0002735_abnormal_chemical_nociception | 0.44647185 |
| 48 | MP0002736_abnormal_nociception_after | 0.44508871 |
| 49 | MP0000920_abnormal_myelination | 0.42886770 |
| 50 | MP0005360_urolithiasis | 0.42550824 |
| 51 | MP0001661_extended_life_span | 0.40304622 |
| 52 | MP0005397_hematopoietic_system_phenotyp | 0.39233294 |
| 53 | MP0001545_abnormal_hematopoietic_system | 0.39233294 |
| 54 | MP0005551_abnormal_eye_electrophysiolog | 0.38630803 |
| 55 | MP0004019_abnormal_vitamin_homeostasis | 0.38551973 |
| 56 | MP0001324_abnormal_eye_pigmentation | 0.38122293 |
| 57 | MP0003786_premature_aging | 0.36257920 |
| 58 | MP0001293_anophthalmia | 0.33416816 |
| 59 | MP0002269_muscular_atrophy | 0.32690211 |
| 60 | MP0005391_vision/eye_phenotype | 0.32254958 |
| 61 | MP0002876_abnormal_thyroid_physiology | 0.30626692 |
| 62 | MP0005423_abnormal_somatic_nervous | 0.29857718 |
| 63 | MP0001968_abnormal_touch/_nociception | 0.29319034 |
| 64 | MP0002163_abnormal_gland_morphology | 0.28577309 |
| 65 | MP0003252_abnormal_bile_duct | 0.27076116 |
| 66 | MP0001119_abnormal_female_reproductive | 0.26881331 |
| 67 | MP0004270_analgesia | 0.26616564 |
| 68 | MP0003329_amyloid_beta_deposits | 0.25922528 |
| 69 | MP0009115_abnormal_fat_cell | 0.25278049 |
| 70 | MP0000358_abnormal_cell_content/ | 0.25208586 |
| 71 | MP0004134_abnormal_chest_morphology | 0.24536662 |
| 72 | MP0003879_abnormal_hair_cell | 0.23496925 |
| 73 | MP0002152_abnormal_brain_morphology | 0.22260932 |
| 74 | MP0002102_abnormal_ear_morphology | 0.22248714 |
| 75 | MP0003633_abnormal_nervous_system | 0.21240988 |
| 76 | MP0002572_abnormal_emotion/affect_behav | 0.21029764 |
| 77 | MP0005535_abnormal_body_temperature | 0.20823261 |
| 78 | MP0006036_abnormal_mitochondrial_physio | 0.20064082 |
| 79 | MP0005365_abnormal_bile_salt | 0.19372465 |
| 80 | MP0003861_abnormal_nervous_system | 0.18866117 |
| 81 | MP0005646_abnormal_pituitary_gland | 0.18427758 |
| 82 | MP0000427_abnormal_hair_cycle | 0.17887641 |
| 83 | MP0003942_abnormal_urinary_system | 0.17837198 |
| 84 | MP0000751_myopathy | 0.17792410 |
| 85 | MP0002796_impaired_skin_barrier | 0.17766771 |
| 86 | MP0002272_abnormal_nervous_system | 0.17288324 |
| 87 | MP0005379_endocrine/exocrine_gland_phen | 0.17035151 |
| 88 | MP0002169_no_abnormal_phenotype | 0.17022057 |
| 89 | MP0002873_normal_phenotype | 0.16821924 |
| 90 | MP0002067_abnormal_sensory_capabilities | 0.16786258 |
| 91 | MP0002971_abnormal_brown_adipose | 0.16628701 |
| 92 | MP0008569_lethality_at_weaning | 0.16574577 |
| 93 | MP0002295_abnormal_pulmonary_circulatio | 0.16227451 |
| 94 | MP0004043_abnormal_pH_regulation | 0.15551933 |
| 95 | MP0000383_abnormal_hair_follicle | 0.15486787 |
| 96 | MP0000534_abnormal_ureter_morphology | 0.14886861 |
| 97 | MP0003631_nervous_system_phenotype | 0.14559667 |
| 98 | MP0002229_neurodegeneration | 0.14528101 |
| 99 | MP0000462_abnormal_digestive_system | 0.13959241 |
| 100 | MP0004811_abnormal_neuron_physiology | 0.13846655 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal respiratory motile cilium physiology (HP:0012261) | 9.90921960 |
| 2 | Abnormal respiratory motile cilium morphology (HP:0005938) | 9.37349304 |
| 3 | Abnormal respiratory epithelium morphology (HP:0012253) | 9.37349304 |
| 4 | Abnormal ciliary motility (HP:0012262) | 8.55509674 |
| 5 | Rhinitis (HP:0012384) | 7.26981347 |
| 6 | Chronic bronchitis (HP:0004469) | 6.95195483 |
| 7 | Infertility (HP:0000789) | 6.95081540 |
| 8 | Nasal polyposis (HP:0100582) | 5.96411340 |
| 9 | Abnormality of the nasal mucosa (HP:0000433) | 4.89447963 |
| 10 | Male infertility (HP:0003251) | 4.67041961 |
| 11 | Bronchiectasis (HP:0002110) | 4.50518532 |
| 12 | Bronchitis (HP:0012387) | 4.35795545 |
| 13 | Nephronophthisis (HP:0000090) | 4.04855721 |
| 14 | Recurrent sinusitis (HP:0011108) | 3.93431477 |
| 15 | Abnormal spermatogenesis (HP:0008669) | 3.79518573 |
| 16 | Tubulointerstitial nephritis (HP:0001970) | 3.29893502 |
| 17 | Recurrent otitis media (HP:0000403) | 3.26887463 |
| 18 | Abnormality of the renal medulla (HP:0100957) | 3.09634866 |
| 19 | Recurrent bronchitis (HP:0002837) | 2.62862253 |
| 20 | Tubulointerstitial abnormality (HP:0001969) | 2.59194029 |
| 21 | Tubular atrophy (HP:0000092) | 2.49837826 |
| 22 | Azoospermia (HP:0000027) | 2.48276050 |
| 23 | Gonadotropin excess (HP:0000837) | 2.40670055 |
| 24 | Abnormality of midbrain morphology (HP:0002418) | 2.28787805 |
| 25 | Molar tooth sign on MRI (HP:0002419) | 2.28787805 |
| 26 | Impulsivity (HP:0100710) | 2.25738925 |
| 27 | Dyschromatopsia (HP:0007641) | 2.19211754 |
| 28 | Abnormal gallbladder physiology (HP:0012438) | 2.15822874 |
| 29 | Cholecystitis (HP:0001082) | 2.15822874 |
| 30 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 14.1560648 |
| 31 | Absent/shortened dynein arms (HP:0200106) | 14.1560648 |
| 32 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 13.0093871 |
| 33 | Tubulointerstitial fibrosis (HP:0005576) | 1.90335994 |
| 34 | Bell-shaped thorax (HP:0001591) | 1.90061878 |
| 35 | Postaxial foot polydactyly (HP:0001830) | 1.89052297 |
| 36 | Medial flaring of the eyebrow (HP:0010747) | 1.86830475 |
| 37 | Decreased central vision (HP:0007663) | 1.85759306 |
| 38 | Stage 5 chronic kidney disease (HP:0003774) | 1.85103474 |
| 39 | J-shaped sella turcica (HP:0002680) | 1.84782656 |
| 40 | Spastic tetraparesis (HP:0001285) | 1.81370036 |
| 41 | Hemorrhage of the eye (HP:0011885) | 1.69587062 |
| 42 | Microglossia (HP:0000171) | 1.69524262 |
| 43 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.68301101 |
| 44 | Congenital hepatic fibrosis (HP:0002612) | 1.68241304 |
| 45 | Abnormality of the renal cortex (HP:0011035) | 1.65738006 |
| 46 | Choroideremia (HP:0001139) | 1.64563133 |
| 47 | Fibular hypoplasia (HP:0003038) | 1.62839189 |
| 48 | Abnormal drinking behavior (HP:0030082) | 1.62587282 |
| 49 | Polydipsia (HP:0001959) | 1.62587282 |
| 50 | Abnormality of the lower motor neuron (HP:0002366) | 1.59328302 |
| 51 | Hemiparesis (HP:0001269) | 1.57736744 |
| 52 | Asymmetric septal hypertrophy (HP:0001670) | 1.55068020 |
| 53 | Facial cleft (HP:0002006) | 1.54582082 |
| 54 | Heterotopia (HP:0002282) | 1.53876203 |
| 55 | Short ribs (HP:0000773) | 1.53051890 |
| 56 | Abnormality of renal excretion (HP:0011036) | 1.51032655 |
| 57 | Abnormal biliary tract physiology (HP:0012439) | 1.50977603 |
| 58 | Bile duct proliferation (HP:0001408) | 1.50977603 |
| 59 | Impaired proprioception (HP:0010831) | 1.48762717 |
| 60 | Absent frontal sinuses (HP:0002688) | 1.46421583 |
| 61 | Amyotrophic lateral sclerosis (HP:0007354) | 1.45018064 |
| 62 | Abnormality of permanent molar morphology (HP:0011071) | 1.44606808 |
| 63 | Abnormality of the dental root (HP:0006486) | 1.44606808 |
| 64 | Taurodontia (HP:0000679) | 1.44606808 |
| 65 | Oculomotor apraxia (HP:0000657) | 1.43073390 |
| 66 | Deformed sella turcica (HP:0002681) | 1.42149568 |
| 67 | Cone-shaped epiphyses of the phalanges of the hand (HP:0010230) | 1.41586990 |
| 68 | Abnormality of molar (HP:0011077) | 1.40020084 |
| 69 | Abnormality of molar morphology (HP:0011070) | 1.40020084 |
| 70 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.39303548 |
| 71 | Absent epiphyses (HP:0010577) | 1.39303548 |
| 72 | Short thorax (HP:0010306) | 1.37793067 |
| 73 | Median cleft lip (HP:0000161) | 1.32743126 |
| 74 | Postaxial hand polydactyly (HP:0001162) | 1.32195286 |
| 75 | Neurofibrillary tangles (HP:0002185) | 1.31930415 |
| 76 | Abnormality of dentin (HP:0010299) | 1.31403646 |
| 77 | Abnormality of the dental pulp (HP:0006479) | 1.31335449 |
| 78 | Renal dysplasia (HP:0000110) | 1.27918739 |
| 79 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 1.27095823 |
| 80 | Nephropathy (HP:0000112) | 1.25959169 |
| 81 | Vascular calcification (HP:0004934) | 1.25901063 |
| 82 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.24150943 |
| 83 | Rhizomelia (HP:0008905) | 1.21146596 |
| 84 | Abnormal urine output (HP:0012590) | 1.20181694 |
| 85 | Decreased motor nerve conduction velocity (HP:0003431) | 1.17962794 |
| 86 | Chronic sinusitis (HP:0011109) | 1.16933609 |
| 87 | Constricted visual fields (HP:0001133) | 1.15791665 |
| 88 | Cardiovascular calcification (HP:0011915) | 1.14317730 |
| 89 | Bundle branch block (HP:0011710) | 1.12486162 |
| 90 | Abnormality of the sella turcica (HP:0002679) | 1.11278218 |
| 91 | Supernumerary spleens (HP:0009799) | 1.11187270 |
| 92 | Broad distal phalanx of finger (HP:0009836) | 1.10201507 |
| 93 | Attenuation of retinal blood vessels (HP:0007843) | 1.10008219 |
| 94 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 1.08315967 |
| 95 | Cerebral inclusion bodies (HP:0100314) | 1.08148280 |
| 96 | Cystic liver disease (HP:0006706) | 1.07893246 |
| 97 | Peripheral hypomyelination (HP:0007182) | 1.06493701 |
| 98 | Delayed gross motor development (HP:0002194) | 1.04794084 |
| 99 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.04031888 |
| 100 | Pachygyria (HP:0001302) | 1.01003439 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK3 | 8.40630470 |
| 2 | PDK4 | 8.40630470 |
| 3 | PDK2 | 5.42025735 |
| 4 | TESK1 | 5.32750105 |
| 5 | PRKD3 | 4.95871256 |
| 6 | ICK | 4.11293341 |
| 7 | PNCK | 2.46662981 |
| 8 | STK39 | 2.37178240 |
| 9 | PTK2B | 2.37152451 |
| 10 | WNK4 | 2.36014137 |
| 11 | NEK2 | 1.45651890 |
| 12 | DYRK1B | 1.38953842 |
| 13 | STK38 | 1.34447585 |
| 14 | PDK1 | 1.17746161 |
| 15 | TYRO3 | 1.13709455 |
| 16 | WNK1 | 1.03966696 |
| 17 | TESK2 | 0.92649378 |
| 18 | MAPK15 | 0.90985701 |
| 19 | DYRK3 | 0.85805212 |
| 20 | CAMK1G | 0.84332946 |
| 21 | STK3 | 0.84040997 |
| 22 | MAP2K6 | 0.71799659 |
| 23 | PINK1 | 0.67040006 |
| 24 | PDPK1 | 0.62411210 |
| 25 | TTK | 0.60777439 |
| 26 | PASK | 0.58608216 |
| 27 | EEF2K | 0.51434916 |
| 28 | IRAK1 | 0.49951228 |
| 29 | RIPK4 | 0.45938679 |
| 30 | CHEK2 | 0.43898355 |
| 31 | PAK2 | 0.42601404 |
| 32 | BMPR1B | 0.40650020 |
| 33 | NTRK2 | 0.38772820 |
| 34 | CHEK1 | 0.37275595 |
| 35 | PAK1 | 0.37135262 |
| 36 | ATR | 0.36406648 |
| 37 | DDR2 | 0.35328793 |
| 38 | LMTK2 | 0.35242621 |
| 39 | ATM | 0.29923226 |
| 40 | MAP3K4 | 0.29626079 |
| 41 | CCNB1 | 0.29270824 |
| 42 | STK11 | 0.28559487 |
| 43 | MUSK | 0.28348775 |
| 44 | PRKCG | 0.25354491 |
| 45 | NEK6 | 0.23345804 |
| 46 | EPHB1 | 0.23256650 |
| 47 | MET | 0.22913179 |
| 48 | CAMKK1 | 0.22507605 |
| 49 | PKN1 | 0.22205758 |
| 50 | MAPKAPK5 | 0.21813963 |
| 51 | MTOR | 0.21041041 |
| 52 | MARK3 | 0.20690437 |
| 53 | PRKCQ | 0.19046830 |
| 54 | CSNK1D | 0.18970348 |
| 55 | PRKAA1 | 0.17554882 |
| 56 | LATS1 | 0.16137939 |
| 57 | BCR | 0.15808199 |
| 58 | MARK2 | 0.15579143 |
| 59 | FER | 0.14681052 |
| 60 | WNK3 | 0.13418465 |
| 61 | MAP3K10 | 0.12969677 |
| 62 | CAMK2A | 0.11100873 |
| 63 | CLK1 | 0.10813736 |
| 64 | MAP3K5 | 0.10570151 |
| 65 | CDK15 | 0.09878294 |
| 66 | STK10 | 0.09412374 |
| 67 | TBK1 | 0.09119751 |
| 68 | STK38L | 0.08542666 |
| 69 | CSK | 0.08516673 |
| 70 | FGR | 0.08326026 |
| 71 | MST1R | 0.08122289 |
| 72 | WEE1 | 0.07494451 |
| 73 | OXSR1 | 0.07341730 |
| 74 | CDK18 | 0.07220148 |
| 75 | PRKG1 | 0.07001911 |
| 76 | PRKACG | 0.06907793 |
| 77 | PLK1 | 0.06852109 |
| 78 | GSK3B | 0.06833200 |
| 79 | CDK12 | 0.06048731 |
| 80 | RPS6KB1 | 0.05988014 |
| 81 | PRKCD | 0.05666705 |
| 82 | IRAK2 | 0.05621371 |
| 83 | EPHA4 | 0.05452187 |
| 84 | CDK11A | 0.05278210 |
| 85 | PRKCZ | 0.04489172 |
| 86 | PRKCB | 0.04351114 |
| 87 | SRC | 0.04239426 |
| 88 | YES1 | 0.04060769 |
| 89 | TNIK | 0.03926935 |
| 90 | CSF1R | 0.03726939 |
| 91 | CDK14 | 0.03580182 |
| 92 | PRKDC | 0.03433638 |
| 93 | DAPK2 | 0.03372113 |
| 94 | CDC7 | 0.03184624 |
| 95 | MAP2K7 | 0.03102658 |
| 96 | PRKACA | 0.03092352 |
| 97 | PLK4 | 0.03059406 |
| 98 | PAK6 | 0.02863453 |
| 99 | CDK1 | 0.02289390 |
| 100 | PRKACB | 0.02245056 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 4.52312367 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 4.38968778 |
| 3 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 4.02578148 |
| 4 | Pyruvate metabolism_Homo sapiens_hsa00620 | 3.64041016 |
| 5 | Propanoate metabolism_Homo sapiens_hsa00640 | 3.51363357 |
| 6 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 2.86229372 |
| 7 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 2.78718488 |
| 8 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 2.65757178 |
| 9 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 2.41893681 |
| 10 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 2.20392222 |
| 11 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 2.14524423 |
| 12 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 2.06318980 |
| 13 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 2.02149168 |
| 14 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 2.00719528 |
| 15 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.99024932 |
| 16 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.93415717 |
| 17 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.83687885 |
| 18 | Basal transcription factors_Homo sapiens_hsa03022 | 1.79884963 |
| 19 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.63619764 |
| 20 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.63468561 |
| 21 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.54904888 |
| 22 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.50252036 |
| 23 | Mineral absorption_Homo sapiens_hsa04978 | 1.49149412 |
| 24 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.48541675 |
| 25 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.47670008 |
| 26 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.43440219 |
| 27 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.41903306 |
| 28 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.40339382 |
| 29 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.39345583 |
| 30 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.37744523 |
| 31 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.32490602 |
| 32 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.28007887 |
| 33 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.26493149 |
| 34 | Renin secretion_Homo sapiens_hsa04924 | 1.22833966 |
| 35 | Carbon metabolism_Homo sapiens_hsa01200 | 1.15164117 |
| 36 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.14020106 |
| 37 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.10689817 |
| 38 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.04448840 |
| 39 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.00831777 |
| 40 | Huntingtons disease_Homo sapiens_hsa05016 | 0.95574492 |
| 41 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.90885493 |
| 42 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.90323330 |
| 43 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.89469215 |
| 44 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.88745746 |
| 45 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.87254592 |
| 46 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.82543149 |
| 47 | Bile secretion_Homo sapiens_hsa04976 | 0.81158735 |
| 48 | Insulin secretion_Homo sapiens_hsa04911 | 0.80036310 |
| 49 | Purine metabolism_Homo sapiens_hsa00230 | 0.75591687 |
| 50 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.71229438 |
| 51 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.70966838 |
| 52 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.70497552 |
| 53 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.69150894 |
| 54 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.68373155 |
| 55 | Salivary secretion_Homo sapiens_hsa04970 | 0.67888178 |
| 56 | ABC transporters_Homo sapiens_hsa02010 | 0.65911158 |
| 57 | RNA transport_Homo sapiens_hsa03013 | 0.63164881 |
| 58 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.62799922 |
| 59 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.62652245 |
| 60 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.62364663 |
| 61 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.62277137 |
| 62 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.60582709 |
| 63 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.60501287 |
| 64 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.58644733 |
| 65 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.56269175 |
| 66 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.52968144 |
| 67 | Long-term potentiation_Homo sapiens_hsa04720 | 0.52027275 |
| 68 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.51875011 |
| 69 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.48445742 |
| 70 | Taste transduction_Homo sapiens_hsa04742 | 0.47758289 |
| 71 | Metabolic pathways_Homo sapiens_hsa01100 | 0.42876928 |
| 72 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.42223526 |
| 73 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.41736540 |
| 74 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.41334078 |
| 75 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.40325697 |
| 76 | Circadian entrainment_Homo sapiens_hsa04713 | 0.40023227 |
| 77 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.36376907 |
| 78 | Legionellosis_Homo sapiens_hsa05134 | 0.34128137 |
| 79 | Endocytosis_Homo sapiens_hsa04144 | 0.33844095 |
| 80 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.31735211 |
| 81 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.30918876 |
| 82 | Phagosome_Homo sapiens_hsa04145 | 0.30720973 |
| 83 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.30598816 |
| 84 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.29839550 |
| 85 | Retinol metabolism_Homo sapiens_hsa00830 | 0.29280914 |
| 86 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.26934936 |
| 87 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.26299371 |
| 88 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.26179187 |
| 89 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.24910387 |
| 90 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.24333741 |
| 91 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.22298828 |
| 92 | Nicotine addiction_Homo sapiens_hsa05033 | 0.21750866 |
| 93 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 0.20235091 |
| 94 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.19365564 |
| 95 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.14459259 |
| 96 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.14186841 |
| 97 | Morphine addiction_Homo sapiens_hsa05032 | 0.12528017 |
| 98 | Cocaine addiction_Homo sapiens_hsa05030 | 0.12068336 |
| 99 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.10896446 |
| 100 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.07945314 |

