

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | axonemal dynein complex assembly (GO:0070286) | 9.90936160 |
| 2 | epithelial cilium movement (GO:0003351) | 9.88296078 |
| 3 | reproduction (GO:0000003) | 9.54835705 |
| 4 | motile cilium assembly (GO:0044458) | 9.26103640 |
| 5 | spermatid development (GO:0007286) | 9.20257375 |
| 6 | piRNA metabolic process (GO:0034587) | 8.47016014 |
| 7 | cilium movement (GO:0003341) | 8.25171600 |
| 8 | regulation of cilium movement (GO:0003352) | 8.20321181 |
| 9 | male meiosis (GO:0007140) | 7.82091125 |
| 10 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 7.74965425 |
| 11 | single fertilization (GO:0007338) | 7.60567616 |
| 12 | synaptonemal complex organization (GO:0070193) | 7.37808742 |
| 13 | synaptonemal complex assembly (GO:0007130) | 7.28125428 |
| 14 | sperm capacitation (GO:0048240) | 6.99604159 |
| 15 | fertilization (GO:0009566) | 6.55778152 |
| 16 | negative regulation of inclusion body assembly (GO:0090084) | 6.41569512 |
| 17 | spermatogenesis (GO:0007283) | 6.31258097 |
| 18 | male gamete generation (GO:0048232) | 6.28970102 |
| 19 | microtubule depolymerization (GO:0007019) | 6.26018279 |
| 20 | gamete generation (GO:0007276) | 5.85788625 |
| 21 | organic cation transport (GO:0015695) | 5.79106566 |
| 22 | DNA methylation involved in gamete generation (GO:0043046) | 5.53240310 |
| 23 | calcium ion-dependent exocytosis (GO:0017156) | 5.35479509 |
| 24 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 5.32650603 |
| 25 | germ cell development (GO:0007281) | 5.32050607 |
| 26 | microtubule severing (GO:0051013) | 5.30922530 |
| 27 | regulation of inclusion body assembly (GO:0090083) | 5.30782552 |
| 28 | ventricular system development (GO:0021591) | 5.22729849 |
| 29 | cell recognition (GO:0008037) | 5.03138276 |
| 30 | chromosome organization involved in meiosis (GO:0070192) | 5.01057023 |
| 31 | male meiosis I (GO:0007141) | 4.95098034 |
| 32 | regulation of microtubule-based movement (GO:0060632) | 4.74199799 |
| 33 | multicellular organismal reproductive process (GO:0048609) | 4.63168951 |
| 34 | spermatid nucleus differentiation (GO:0007289) | 4.47633860 |
| 35 | meiotic nuclear division (GO:0007126) | 4.47461530 |
| 36 | seminiferous tubule development (GO:0072520) | 4.31838984 |
| 37 | chromosome condensation (GO:0030261) | 4.30840539 |
| 38 | glycerol ether metabolic process (GO:0006662) | 4.12821885 |
| 39 | left/right pattern formation (GO:0060972) | 4.08374361 |
| 40 | DNA packaging (GO:0006323) | 4.06950885 |
| 41 | meiotic cell cycle (GO:0051321) | 4.01067408 |
| 42 | meiosis I (GO:0007127) | 3.95947592 |
| 43 | protein polyglutamylation (GO:0018095) | 3.95025074 |
| 44 | ether metabolic process (GO:0018904) | 3.80869864 |
| 45 | protein localization to cilium (GO:0061512) | 3.79956696 |
| 46 | monoubiquitinated protein deubiquitination (GO:0035520) | 3.79762665 |
| 47 | multicellular organismal development (GO:0007275) | 3.67825032 |
| 48 | chaperone-mediated protein complex assembly (GO:0051131) | 3.59513706 |
| 49 | genitalia morphogenesis (GO:0035112) | 3.49377728 |
| 50 | protein K11-linked deubiquitination (GO:0035871) | 3.34014369 |
| 51 | single strand break repair (GO:0000012) | 3.31368558 |
| 52 | microtubule polymerization or depolymerization (GO:0031109) | 3.30871182 |
| 53 | regulation of spindle checkpoint (GO:0090231) | 3.11558364 |
| 54 | intraciliary transport (GO:0042073) | 3.09290053 |
| 55 | cilium organization (GO:0044782) | 3.08941681 |
| 56 | gene silencing by RNA (GO:0031047) | 3.06453292 |
| 57 | nucleoside diphosphate phosphorylation (GO:0006165) | 3.04182752 |
| 58 | microtubule-based movement (GO:0007018) | 3.03298395 |
| 59 | meiotic cell cycle process (GO:1903046) | 3.01864384 |
| 60 | regulation of acrosome reaction (GO:0060046) | 3.01666561 |
| 61 | polyol catabolic process (GO:0046174) | 3.01518721 |
| 62 | cilium assembly (GO:0042384) | 2.99789497 |
| 63 | lactate metabolic process (GO:0006089) | 2.98119382 |
| 64 | negative regulation of organelle assembly (GO:1902116) | 2.93787842 |
| 65 | sequestering of actin monomers (GO:0042989) | 2.92846222 |
| 66 | cilium morphogenesis (GO:0060271) | 2.92664160 |
| 67 | glycolytic process (GO:0006096) | 2.92569706 |
| 68 | axoneme assembly (GO:0035082) | 2.91787751 |
| 69 | synapsis (GO:0007129) | 2.89452826 |
| 70 | amino-acid betaine transport (GO:0015838) | 2.89445253 |
| 71 | carnitine transport (GO:0015879) | 2.89445253 |
| 72 | cellular component assembly involved in morphogenesis (GO:0010927) | 2.87858969 |
| 73 | sexual reproduction (GO:0019953) | 2.86368756 |
| 74 | protein refolding (GO:0042026) | 2.86009953 |
| 75 | GTP biosynthetic process (GO:0006183) | 2.84896852 |
| 76 | alditol metabolic process (GO:0019400) | 2.83431882 |
| 77 | mitotic sister chromatid cohesion (GO:0007064) | 2.81426465 |
| 78 | nucleus organization (GO:0006997) | 2.78184422 |
| 79 | centriole assembly (GO:0098534) | 2.76245386 |
| 80 | carnitine transmembrane transport (GO:1902603) | 2.75630801 |
| 81 | RNA localization (GO:0006403) | 2.61396849 |
| 82 | interferon-gamma secretion (GO:0072643) | 2.61011893 |
| 83 | peptidyl-glutamic acid modification (GO:0018200) | 2.59151017 |
| 84 | regulation of cilium assembly (GO:1902017) | 2.56653000 |
| 85 | regulation of centriole replication (GO:0046599) | 2.54528440 |
| 86 | regulation of meiosis I (GO:0060631) | 2.53893214 |
| 87 | RNA destabilization (GO:0050779) | 2.51480917 |
| 88 | centriole replication (GO:0007099) | 2.50223891 |
| 89 | fusion of sperm to egg plasma membrane (GO:0007342) | 13.1148468 |
| 90 | sperm motility (GO:0030317) | 12.7843273 |
| 91 | cell wall macromolecule catabolic process (GO:0016998) | 12.5202795 |
| 92 | cell wall macromolecule metabolic process (GO:0044036) | 12.5202795 |
| 93 | multicellular organism reproduction (GO:0032504) | 11.4582626 |
| 94 | sperm-egg recognition (GO:0035036) | 11.3719292 |
| 95 | acrosome assembly (GO:0001675) | 11.3178560 |
| 96 | acrosome reaction (GO:0007340) | 11.1607485 |
| 97 | binding of sperm to zona pellucida (GO:0007339) | 10.4123210 |
| 98 | cilium or flagellum-dependent cell motility (GO:0001539) | 10.3988176 |
| 99 | plasma membrane fusion (GO:0045026) | 10.1990947 |
| 100 | cell-cell recognition (GO:0009988) | 10.1425801 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 8.74541681 |
| 2 | EZH2_22144423_ChIP-Seq_EOC_Human | 5.41306305 |
| 3 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 4.37606458 |
| 4 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 3.18806647 |
| 5 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 3.07466152 |
| 6 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.60482725 |
| 7 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.39117711 |
| 8 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.36615557 |
| 9 | VDR_22108803_ChIP-Seq_LS180_Human | 2.30201668 |
| 10 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.21614559 |
| 11 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 2.08296392 |
| 12 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.06978137 |
| 13 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.00904333 |
| 14 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.92458556 |
| 15 | * CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.92177915 |
| 16 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.87649635 |
| 17 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 1.86187610 |
| 18 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.73662165 |
| 19 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.69658926 |
| 20 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.68325690 |
| 21 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.67714412 |
| 22 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.66827555 |
| 23 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.66340071 |
| 24 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.60886912 |
| 25 | KDM2B_26808549_Chip-Seq_REH_Human | 1.57190905 |
| 26 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.56573209 |
| 27 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.53642840 |
| 28 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.51621214 |
| 29 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.50629341 |
| 30 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.48305093 |
| 31 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.48218563 |
| 32 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.44881087 |
| 33 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.44508763 |
| 34 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.44508763 |
| 35 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.44060419 |
| 36 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.43279302 |
| 37 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.42813256 |
| 38 | * GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.41957037 |
| 39 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.37244818 |
| 40 | * FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.36056197 |
| 41 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 1.35799264 |
| 42 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.35390170 |
| 43 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.32359455 |
| 44 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.31655296 |
| 45 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.30425139 |
| 46 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.26161124 |
| 47 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.24424952 |
| 48 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.22830266 |
| 49 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.22830266 |
| 50 | * GATA3_21867929_ChIP-Seq_TH1_Mouse | 1.21609634 |
| 51 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.21241692 |
| 52 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.20258852 |
| 53 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.19113447 |
| 54 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.17852098 |
| 55 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.17694048 |
| 56 | OCT4_18555785_Chip-Seq_ESCs_Mouse | 1.17154977 |
| 57 | P53_22387025_ChIP-Seq_ESCs_Mouse | 1.17052405 |
| 58 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.15833462 |
| 59 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.15009392 |
| 60 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 1.14592448 |
| 61 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.14267674 |
| 62 | * LUZP1_20508642_ChIP-Seq_ESCs_Mouse | 1.13525157 |
| 63 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 1.13087800 |
| 64 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 1.11901626 |
| 65 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 1.11657010 |
| 66 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.11552192 |
| 67 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.11073592 |
| 68 | FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.08761206 |
| 69 | CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.07198291 |
| 70 | P300_18555785_Chip-Seq_ESCs_Mouse | 1.06731579 |
| 71 | EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 1.06456218 |
| 72 | KLF4_18555785_Chip-Seq_ESCs_Mouse | 1.05755779 |
| 73 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.05749532 |
| 74 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 1.04597715 |
| 75 | RCOR3_21632747_ChIP-Seq_MESCs_Mouse | 1.03584153 |
| 76 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 1.03461566 |
| 77 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 1.02616231 |
| 78 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 1.01805474 |
| 79 | ESRRB_18555785_Chip-Seq_ESCs_Mouse | 1.01619799 |
| 80 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.01466770 |
| 81 | FUS_26573619_Chip-Seq_HEK293_Human | 1.00361847 |
| 82 | SOX2_18555785_Chip-Seq_ESCs_Mouse | 0.96675696 |
| 83 | ESET_19884257_ChIP-Seq_ESCs_Mouse | 0.96365564 |
| 84 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 0.95745178 |
| 85 | PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 0.94561028 |
| 86 | E2F1_18555785_Chip-Seq_ESCs_Mouse | 0.94224035 |
| 87 | ERG_20517297_ChIP-Seq_VCAP_Human | 0.93150235 |
| 88 | PU1_27457419_Chip-Seq_LIVER_Mouse | 0.92626736 |
| 89 | SPI1_26923725_Chip-Seq_HPCs_Mouse | 0.92500653 |
| 90 | TBL1_22424771_ChIP-Seq_293T_Human | 0.92435659 |
| 91 | CTCF_18555785_Chip-Seq_ESCs_Mouse | 0.91848251 |
| 92 | SOX9_26525672_Chip-Seq_HEART_Mouse | 0.91498326 |
| 93 | SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.90471775 |
| 94 | PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 0.90450358 |
| 95 | * RAD21_21589869_ChIP-Seq_MESCs_Mouse | 0.90260143 |
| 96 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 0.89811338 |
| 97 | NFYB_21822215_ChIP-Seq_K562_Human | 0.89806226 |
| 98 | GF1B_26923725_Chip-Seq_HPCs_Mouse | 0.89575559 |
| 99 | STAT3_18555785_ChIP-Seq_MESCs_Mouse | 0.88452415 |
| 100 | NMYC_18555785_Chip-Seq_ESCs_Mouse | 0.87476373 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 5.85048047 |
| 2 | MP0001929_abnormal_gametogenesis | 5.55732824 |
| 3 | MP0008877_abnormal_DNA_methylation | 4.89143705 |
| 4 | MP0002210_abnormal_sex_determination | 3.57178342 |
| 5 | MP0002161_abnormal_fertility/fecundity | 3.32918012 |
| 6 | MP0002653_abnormal_ependyma_morphology | 3.00163456 |
| 7 | MP0001145_abnormal_male_reproductive | 2.96305862 |
| 8 | MP0000653_abnormal_sex_gland | 2.72721766 |
| 9 | MP0005670_abnormal_white_adipose | 2.46379918 |
| 10 | MP0003646_muscle_fatigue | 2.37164083 |
| 11 | MP0005410_abnormal_fertilization | 15.1880544 |
| 12 | MP0002160_abnormal_reproductive_system | 1.67419442 |
| 13 | MP0005623_abnormal_meninges_morphology | 1.47446293 |
| 14 | MP0009046_muscle_twitch | 1.43921102 |
| 15 | MP0002282_abnormal_trachea_morphology | 1.32738983 |
| 16 | MP0001984_abnormal_olfaction | 1.30116212 |
| 17 | MP0003787_abnormal_imprinting | 1.26039010 |
| 18 | MP0004233_abnormal_muscle_weight | 1.24185795 |
| 19 | MP0005389_reproductive_system_phenotype | 0.99564795 |
| 20 | MP0008058_abnormal_DNA_repair | 0.96486700 |
| 21 | MP0001765_abnormal_ion_homeostasis | 0.96436532 |
| 22 | MP0005647_abnormal_sex_gland | 0.96022195 |
| 23 | MP0002736_abnormal_nociception_after | 0.93160947 |
| 24 | MP0003699_abnormal_female_reproductive | 0.88751393 |
| 25 | MP0008995_early_reproductive_senescence | 0.87636272 |
| 26 | MP0002102_abnormal_ear_morphology | 0.86767930 |
| 27 | MP0003718_maternal_effect | 0.86664028 |
| 28 | MP0010094_abnormal_chromosome_stability | 0.86634384 |
| 29 | MP0001968_abnormal_touch/_nociception | 0.78813606 |
| 30 | MP0003880_abnormal_central_pattern | 0.78214881 |
| 31 | MP0001529_abnormal_vocalization | 0.78146747 |
| 32 | MP0008057_abnormal_DNA_replication | 0.77229831 |
| 33 | MP0001119_abnormal_female_reproductive | 0.69232265 |
| 34 | MP0002234_abnormal_pharynx_morphology | 0.66472566 |
| 35 | MP0003011_delayed_dark_adaptation | 0.66197533 |
| 36 | MP0004036_abnormal_muscle_relaxation | 0.62220220 |
| 37 | MP0003115_abnormal_respiratory_system | 0.60237911 |
| 38 | MP0002572_abnormal_emotion/affect_behav | 0.60131769 |
| 39 | MP0005646_abnormal_pituitary_gland | 0.60113829 |
| 40 | MP0002822_catalepsy | 0.57408173 |
| 41 | MP0003329_amyloid_beta_deposits | 0.55291922 |
| 42 | MP0003879_abnormal_hair_cell | 0.54147292 |
| 43 | MP0000569_abnormal_digit_pigmentation | 0.53906177 |
| 44 | MP0003635_abnormal_synaptic_transmissio | 0.50784004 |
| 45 | MP0006276_abnormal_autonomic_nervous | 0.47994625 |
| 46 | MP0001440_abnormal_grooming_behavior | 0.47922422 |
| 47 | MP0005551_abnormal_eye_electrophysiolog | 0.47544262 |
| 48 | MP0000358_abnormal_cell_content/ | 0.47303977 |
| 49 | MP0003786_premature_aging | 0.46007941 |
| 50 | MP0008007_abnormal_cellular_replicative | 0.45173462 |
| 51 | MP0004859_abnormal_synaptic_plasticity | 0.44848681 |
| 52 | MP0002063_abnormal_learning/memory/cond | 0.44644816 |
| 53 | MP0005636_abnormal_mineral_homeostasis | 0.43361318 |
| 54 | MP0003111_abnormal_nucleus_morphology | 0.43068105 |
| 55 | MP0004270_analgesia | 0.42900910 |
| 56 | MP0001905_abnormal_dopamine_level | 0.41743768 |
| 57 | MP0003950_abnormal_plasma_membrane | 0.40451149 |
| 58 | MP0009745_abnormal_behavioral_response | 0.40369666 |
| 59 | MP0002272_abnormal_nervous_system | 0.40346284 |
| 60 | MP0004145_abnormal_muscle_electrophysio | 0.39682022 |
| 61 | MP0005253_abnormal_eye_physiology | 0.38881651 |
| 62 | MP0002557_abnormal_social/conspecific_i | 0.38132723 |
| 63 | MP0003861_abnormal_nervous_system | 0.37556926 |
| 64 | MP0003878_abnormal_ear_physiology | 0.37172150 |
| 65 | MP0005377_hearing/vestibular/ear_phenot | 0.37172150 |
| 66 | MP0002152_abnormal_brain_morphology | 0.36883310 |
| 67 | MP0001324_abnormal_eye_pigmentation | 0.36426877 |
| 68 | MP0004811_abnormal_neuron_physiology | 0.36397324 |
| 69 | MP0006036_abnormal_mitochondrial_physio | 0.35693579 |
| 70 | MP0002928_abnormal_bile_duct | 0.35239200 |
| 71 | MP0002735_abnormal_chemical_nociception | 0.35090902 |
| 72 | MP0001486_abnormal_startle_reflex | 0.33112593 |
| 73 | MP0002269_muscular_atrophy | 0.32617997 |
| 74 | MP0005666_abnormal_adipose_tissue | 0.32351127 |
| 75 | MP0005397_hematopoietic_system_phenotyp | 0.31435711 |
| 76 | MP0001545_abnormal_hematopoietic_system | 0.31435711 |
| 77 | MP0008875_abnormal_xenobiotic_pharmacok | 0.30676734 |
| 78 | MP0003121_genomic_imprinting | 0.30504359 |
| 79 | MP0005395_other_phenotype | 0.30074120 |
| 80 | MP0005423_abnormal_somatic_nervous | 0.30074014 |
| 81 | MP0002837_dystrophic_cardiac_calcinosis | 0.29371046 |
| 82 | MP0006072_abnormal_retinal_apoptosis | 0.29153639 |
| 83 | MP0000751_myopathy | 0.28366955 |
| 84 | MP0009697_abnormal_copulation | 0.27643335 |
| 85 | MP0001919_abnormal_reproductive_system | 0.27540042 |
| 86 | MP0002734_abnormal_mechanical_nocicepti | 0.27074972 |
| 87 | MP0000534_abnormal_ureter_morphology | 0.27023994 |
| 88 | MP0000462_abnormal_digestive_system | 0.26220825 |
| 89 | MP0003942_abnormal_urinary_system | 0.25623912 |
| 90 | MP0003633_abnormal_nervous_system | 0.25437691 |
| 91 | MP0002067_abnormal_sensory_capabilities | 0.25360411 |
| 92 | MP0003631_nervous_system_phenotype | 0.25173950 |
| 93 | MP0002169_no_abnormal_phenotype | 0.24560597 |
| 94 | MP0002139_abnormal_hepatobiliary_system | 0.24559588 |
| 95 | MP0003315_abnormal_perineum_morphology | 0.24518244 |
| 96 | MP0002873_normal_phenotype | 0.24427364 |
| 97 | MP0001730_embryonic_growth_arrest | 0.24289124 |
| 98 | MP0008872_abnormal_physiological_respon | 0.24272364 |
| 99 | MP0002064_seizures | 0.23608007 |
| 100 | MP0005391_vision/eye_phenotype | 0.23401743 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal respiratory motile cilium physiology (HP:0012261) | 9.39935067 |
| 2 | Abnormal respiratory motile cilium morphology (HP:0005938) | 8.90509495 |
| 3 | Abnormal respiratory epithelium morphology (HP:0012253) | 8.90509495 |
| 4 | Rhinitis (HP:0012384) | 7.66683814 |
| 5 | Abnormal ciliary motility (HP:0012262) | 7.50947349 |
| 6 | Chronic bronchitis (HP:0004469) | 7.40676886 |
| 7 | Infertility (HP:0000789) | 6.93610142 |
| 8 | Nasal polyposis (HP:0100582) | 6.07389604 |
| 9 | Abnormality of the nasal mucosa (HP:0000433) | 4.92059970 |
| 10 | Male infertility (HP:0003251) | 4.67118210 |
| 11 | Bronchiectasis (HP:0002110) | 4.46028911 |
| 12 | Bronchitis (HP:0012387) | 4.42369101 |
| 13 | Nephronophthisis (HP:0000090) | 4.33762995 |
| 14 | Abnormal spermatogenesis (HP:0008669) | 3.30429754 |
| 15 | Abnormality of the renal medulla (HP:0100957) | 3.28742201 |
| 16 | Recurrent otitis media (HP:0000403) | 3.18118721 |
| 17 | Recurrent sinusitis (HP:0011108) | 3.14397667 |
| 18 | Medial flaring of the eyebrow (HP:0010747) | 2.93647135 |
| 19 | Impulsivity (HP:0100710) | 2.83112836 |
| 20 | Tubulointerstitial nephritis (HP:0001970) | 2.82649692 |
| 21 | Molar tooth sign on MRI (HP:0002419) | 2.77642317 |
| 22 | Abnormality of midbrain morphology (HP:0002418) | 2.77642317 |
| 23 | Cholecystitis (HP:0001082) | 2.45426954 |
| 24 | Abnormal gallbladder physiology (HP:0012438) | 2.45426954 |
| 25 | Recurrent bronchitis (HP:0002837) | 2.43497245 |
| 26 | Tubular atrophy (HP:0000092) | 2.40192349 |
| 27 | Gonadotropin excess (HP:0000837) | 2.37009606 |
| 28 | Tubulointerstitial abnormality (HP:0001969) | 2.35684250 |
| 29 | Azoospermia (HP:0000027) | 2.29724413 |
| 30 | Postaxial foot polydactyly (HP:0001830) | 2.04495443 |
| 31 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 13.4492884 |
| 32 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 12.8688105 |
| 33 | Absent/shortened dynein arms (HP:0200106) | 12.8688105 |
| 34 | Gait imbalance (HP:0002141) | 1.89792002 |
| 35 | Congenital primary aphakia (HP:0007707) | 1.87727599 |
| 36 | Tubulointerstitial fibrosis (HP:0005576) | 1.83282633 |
| 37 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.82677135 |
| 38 | Stage 5 chronic kidney disease (HP:0003774) | 1.82448402 |
| 39 | Congenital hepatic fibrosis (HP:0002612) | 1.80783510 |
| 40 | Dyschromatopsia (HP:0007641) | 1.78646460 |
| 41 | Spastic tetraparesis (HP:0001285) | 1.73580204 |
| 42 | Choroideremia (HP:0001139) | 1.73265021 |
| 43 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.70991365 |
| 44 | Abnormality of the lower motor neuron (HP:0002366) | 1.70707597 |
| 45 | Decreased central vision (HP:0007663) | 1.69939141 |
| 46 | Renal dysplasia (HP:0000110) | 1.69817107 |
| 47 | Postaxial hand polydactyly (HP:0001162) | 1.68605580 |
| 48 | Polydipsia (HP:0001959) | 1.67085486 |
| 49 | Abnormal drinking behavior (HP:0030082) | 1.67085486 |
| 50 | Heterotopia (HP:0002282) | 1.63987445 |
| 51 | Fibular hypoplasia (HP:0003038) | 1.62524913 |
| 52 | Nephrogenic diabetes insipidus (HP:0009806) | 1.62025255 |
| 53 | Oculomotor apraxia (HP:0000657) | 1.61403833 |
| 54 | Pancreatic fibrosis (HP:0100732) | 1.61132721 |
| 55 | Abnormal biliary tract physiology (HP:0012439) | 1.59252730 |
| 56 | Bile duct proliferation (HP:0001408) | 1.59252730 |
| 57 | Abnormality of the renal cortex (HP:0011035) | 1.59133077 |
| 58 | Short ribs (HP:0000773) | 1.58719272 |
| 59 | Genital tract atresia (HP:0001827) | 1.55356326 |
| 60 | Amyotrophic lateral sclerosis (HP:0007354) | 1.55080277 |
| 61 | Abnormality of permanent molar morphology (HP:0011071) | 1.52556932 |
| 62 | Abnormality of the dental root (HP:0006486) | 1.52556932 |
| 63 | Taurodontia (HP:0000679) | 1.52556932 |
| 64 | Vaginal atresia (HP:0000148) | 1.52079617 |
| 65 | Poor coordination (HP:0002370) | 1.50007031 |
| 66 | Facial cleft (HP:0002006) | 1.47756417 |
| 67 | Cystic liver disease (HP:0006706) | 1.47706966 |
| 68 | Microglossia (HP:0000171) | 1.46705359 |
| 69 | Abnormality of renal excretion (HP:0011036) | 1.46268559 |
| 70 | True hermaphroditism (HP:0010459) | 1.42707933 |
| 71 | Abnormality of dentin (HP:0010299) | 1.42347835 |
| 72 | Supernumerary spleens (HP:0009799) | 1.42211699 |
| 73 | Abnormality of molar morphology (HP:0011070) | 1.41889120 |
| 74 | Abnormality of molar (HP:0011077) | 1.41889120 |
| 75 | Absent epiphyses (HP:0010577) | 1.41555846 |
| 76 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.41555846 |
| 77 | Chronic sinusitis (HP:0011109) | 1.41522772 |
| 78 | Abnormality of the dental pulp (HP:0006479) | 1.38103743 |
| 79 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 1.38058717 |
| 80 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.36902522 |
| 81 | Bundle branch block (HP:0011710) | 1.32547265 |
| 82 | Absent frontal sinuses (HP:0002688) | 1.30411238 |
| 83 | Retinal dysplasia (HP:0007973) | 1.30105018 |
| 84 | Bell-shaped thorax (HP:0001591) | 1.29975184 |
| 85 | Impaired proprioception (HP:0010831) | 1.29745464 |
| 86 | Short thorax (HP:0010306) | 1.29193606 |
| 87 | Neurofibrillary tangles (HP:0002185) | 1.27802087 |
| 88 | Hemorrhage of the eye (HP:0011885) | 1.25713096 |
| 89 | Abnormality of ocular smooth pursuit (HP:0000617) | 1.25160831 |
| 90 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 1.23748931 |
| 91 | Median cleft lip (HP:0000161) | 1.21822421 |
| 92 | Hemiparesis (HP:0001269) | 1.21516283 |
| 93 | Abnormality of saccadic eye movements (HP:0000570) | 1.17214084 |
| 94 | Short femoral neck (HP:0100864) | 1.17164725 |
| 95 | Papillary thyroid carcinoma (HP:0002895) | 1.16509051 |
| 96 | Nephropathy (HP:0000112) | 1.16092323 |
| 97 | Asymmetric septal hypertrophy (HP:0001670) | 1.15514542 |
| 98 | Abnormal urine output (HP:0012590) | 1.15466542 |
| 99 | J-shaped sella turcica (HP:0002680) | 1.14352152 |
| 100 | Chronic hepatic failure (HP:0100626) | 1.14030576 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK3 | 8.37687056 |
| 2 | PDK4 | 8.37687056 |
| 3 | TESK1 | 5.36972269 |
| 4 | PDK2 | 5.31990366 |
| 5 | PRKD3 | 4.98151237 |
| 6 | ICK | 3.65175699 |
| 7 | PTK2B | 2.34533231 |
| 8 | PNCK | 2.23843554 |
| 9 | WNK4 | 2.06391565 |
| 10 | STK39 | 2.06070527 |
| 11 | STK38 | 1.91169025 |
| 12 | NEK2 | 1.59783654 |
| 13 | TYRO3 | 1.16992759 |
| 14 | PDK1 | 1.06321885 |
| 15 | TTK | 1.02894773 |
| 16 | DYRK1B | 1.01545624 |
| 17 | STK38L | 0.98766653 |
| 18 | CHEK2 | 0.89472906 |
| 19 | MUSK | 0.88002144 |
| 20 | MAP2K7 | 0.85245087 |
| 21 | STK3 | 0.83413589 |
| 22 | PLK4 | 0.82272802 |
| 23 | MAP3K4 | 0.81495278 |
| 24 | WNK1 | 0.75251322 |
| 25 | CCNB1 | 0.73405271 |
| 26 | MAP3K6 | 0.71437309 |
| 27 | EEF2K | 0.70206858 |
| 28 | IRAK1 | 0.67630636 |
| 29 | NTRK2 | 0.65015270 |
| 30 | PINK1 | 0.62354191 |
| 31 | MAPKAPK5 | 0.62125762 |
| 32 | BRAF | 0.57473887 |
| 33 | CAMK1G | 0.55847137 |
| 34 | MAPK15 | 0.55827706 |
| 35 | PDPK1 | 0.52396849 |
| 36 | DYRK3 | 0.51364383 |
| 37 | PASK | 0.50748416 |
| 38 | MAP2K6 | 0.46158679 |
| 39 | CHEK1 | 0.45213987 |
| 40 | LMTK2 | 0.44701684 |
| 41 | CDC7 | 0.44061631 |
| 42 | RIPK4 | 0.42945964 |
| 43 | EPHA4 | 0.38133502 |
| 44 | ATM | 0.36470137 |
| 45 | PRKCG | 0.35140650 |
| 46 | PRKAA1 | 0.31835351 |
| 47 | PLK1 | 0.31401624 |
| 48 | NTRK3 | 0.30946284 |
| 49 | PAK1 | 0.29705214 |
| 50 | ERBB4 | 0.28854873 |
| 51 | ATR | 0.27995723 |
| 52 | MAP2K4 | 0.27315851 |
| 53 | IRAK2 | 0.26962300 |
| 54 | TESK2 | 0.26775905 |
| 55 | NEK6 | 0.26703553 |
| 56 | CDK12 | 0.26593966 |
| 57 | LATS1 | 0.26359051 |
| 58 | LATS2 | 0.23790428 |
| 59 | CDK3 | 0.23138387 |
| 60 | WEE1 | 0.22860760 |
| 61 | MARK2 | 0.22447470 |
| 62 | CAMK2A | 0.22129830 |
| 63 | MAP3K5 | 0.21009569 |
| 64 | RPS6KB1 | 0.20312684 |
| 65 | TAOK3 | 0.20016992 |
| 66 | STK10 | 0.17907697 |
| 67 | TAOK1 | 0.17292775 |
| 68 | CDK15 | 0.17012809 |
| 69 | CAMKK1 | 0.16205352 |
| 70 | CDK18 | 0.14887183 |
| 71 | MTOR | 0.14845954 |
| 72 | AURKA | 0.12414706 |
| 73 | CDK11A | 0.11585729 |
| 74 | MARK1 | 0.11276699 |
| 75 | GSK3B | 0.10282689 |
| 76 | PAK6 | 0.10056120 |
| 77 | PLK2 | 0.09999550 |
| 78 | MAPK13 | 0.09806854 |
| 79 | PRKG1 | 0.09171541 |
| 80 | CDK1 | 0.08736903 |
| 81 | PRKCQ | 0.08655240 |
| 82 | PRKCZ | 0.08196003 |
| 83 | STK11 | 0.07785503 |
| 84 | CDK14 | 0.07234118 |
| 85 | GRK5 | 0.07006961 |
| 86 | CSNK1D | 0.06926184 |
| 87 | FES | 0.05511311 |
| 88 | CDK2 | 0.05320872 |
| 89 | PAK2 | 0.05181140 |
| 90 | OXSR1 | 0.05138759 |
| 91 | CSNK2A1 | 0.04257482 |
| 92 | PKN1 | 0.02445968 |
| 93 | FER | 0.02305745 |
| 94 | BRSK2 | 0.01940243 |
| 95 | CDK9 | 0.01691542 |
| 96 | PRKCA | 0.01619851 |
| 97 | PRKACA | 0.01422604 |
| 98 | WNK3 | 0.01218023 |
| 99 | MAPK8 | 0.01029592 |
| 100 | BRSK1 | 0.00882472 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 4.22287145 |
| 2 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 4.09644853 |
| 3 | Pyruvate metabolism_Homo sapiens_hsa00620 | 3.70738140 |
| 4 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 3.62593570 |
| 5 | Basal transcription factors_Homo sapiens_hsa03022 | 3.01804220 |
| 6 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 2.95583040 |
| 7 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 2.91006240 |
| 8 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 2.60574365 |
| 9 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.52977394 |
| 10 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 2.15201324 |
| 11 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 2.13457766 |
| 12 | Oocyte meiosis_Homo sapiens_hsa04114 | 2.10948952 |
| 13 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.98668101 |
| 14 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.82496439 |
| 15 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.81332111 |
| 16 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.76623515 |
| 17 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 1.76360422 |
| 18 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.70616836 |
| 19 | Huntingtons disease_Homo sapiens_hsa05016 | 1.66882007 |
| 20 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.61284497 |
| 21 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.57233322 |
| 22 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.56759408 |
| 23 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.51269159 |
| 24 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.48055128 |
| 25 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.39091410 |
| 26 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.39052481 |
| 27 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.36581713 |
| 28 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.33850489 |
| 29 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.33401453 |
| 30 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.31065839 |
| 31 | Renin secretion_Homo sapiens_hsa04924 | 1.29593509 |
| 32 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.26214249 |
| 33 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.26200021 |
| 34 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.26009054 |
| 35 | Long-term potentiation_Homo sapiens_hsa04720 | 1.25910355 |
| 36 | Mineral absorption_Homo sapiens_hsa04978 | 1.20658679 |
| 37 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.19031531 |
| 38 | Purine metabolism_Homo sapiens_hsa00230 | 1.10685073 |
| 39 | Carbon metabolism_Homo sapiens_hsa01200 | 1.06864070 |
| 40 | RNA transport_Homo sapiens_hsa03013 | 1.02850773 |
| 41 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.99587221 |
| 42 | Insulin secretion_Homo sapiens_hsa04911 | 0.98366876 |
| 43 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.94705271 |
| 44 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.86772781 |
| 45 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.85529109 |
| 46 | Nicotine addiction_Homo sapiens_hsa05033 | 0.84518097 |
| 47 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.83735769 |
| 48 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.82984977 |
| 49 | Taste transduction_Homo sapiens_hsa04742 | 0.80801508 |
| 50 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.79053844 |
| 51 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.76353580 |
| 52 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.72962923 |
| 53 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.71857057 |
| 54 | Cocaine addiction_Homo sapiens_hsa05030 | 0.70911083 |
| 55 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.70091154 |
| 56 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.68255693 |
| 57 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.67486436 |
| 58 | Circadian entrainment_Homo sapiens_hsa04713 | 0.67106092 |
| 59 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.65489376 |
| 60 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.64888185 |
| 61 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.64696505 |
| 62 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.64477289 |
| 63 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.61640931 |
| 64 | RNA degradation_Homo sapiens_hsa03018 | 0.60965789 |
| 65 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.60934458 |
| 66 | Salivary secretion_Homo sapiens_hsa04970 | 0.60929704 |
| 67 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.56647433 |
| 68 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.56231505 |
| 69 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.56129746 |
| 70 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.55674031 |
| 71 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.54743220 |
| 72 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.52529237 |
| 73 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.52249384 |
| 74 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.51220476 |
| 75 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.49216013 |
| 76 | Olfactory transduction_Homo sapiens_hsa04740 | 0.48234458 |
| 77 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.46571497 |
| 78 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.45653306 |
| 79 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.44893493 |
| 80 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.43272161 |
| 81 | Cell cycle_Homo sapiens_hsa04110 | 0.42794142 |
| 82 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.41956786 |
| 83 | Bile secretion_Homo sapiens_hsa04976 | 0.41630353 |
| 84 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.41054753 |
| 85 | Metabolic pathways_Homo sapiens_hsa01100 | 0.37592286 |
| 86 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.37473255 |
| 87 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.37231777 |
| 88 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.35959551 |
| 89 | Endocytosis_Homo sapiens_hsa04144 | 0.31121265 |
| 90 | Morphine addiction_Homo sapiens_hsa05032 | 0.30426756 |
| 91 | Alcoholism_Homo sapiens_hsa05034 | 0.30213171 |
| 92 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.30161678 |
| 93 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.30094239 |
| 94 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.28171564 |
| 95 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.25916977 |
| 96 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 0.23254503 |
| 97 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.22897536 |
| 98 | ABC transporters_Homo sapiens_hsa02010 | 0.22885266 |
| 99 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.20330927 |
| 100 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.19499536 |

