

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | epithelial cilium movement (GO:0003351) | 9.68616173 |
| 2 | spermatid development (GO:0007286) | 9.56475941 |
| 3 | piRNA metabolic process (GO:0034587) | 9.45155423 |
| 4 | reproduction (GO:0000003) | 9.39042985 |
| 5 | motile cilium assembly (GO:0044458) | 9.21762912 |
| 6 | male meiosis (GO:0007140) | 8.76245627 |
| 7 | synaptonemal complex organization (GO:0070193) | 8.39251313 |
| 8 | synaptonemal complex assembly (GO:0007130) | 8.16386599 |
| 9 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 8.13508933 |
| 10 | cilium movement (GO:0003341) | 8.03870369 |
| 11 | regulation of cilium movement (GO:0003352) | 7.58941173 |
| 12 | single fertilization (GO:0007338) | 7.51278176 |
| 13 | negative regulation of inclusion body assembly (GO:0090084) | 6.74427846 |
| 14 | fertilization (GO:0009566) | 6.53637209 |
| 15 | spermatogenesis (GO:0007283) | 6.48679114 |
| 16 | male gamete generation (GO:0048232) | 6.46405159 |
| 17 | sperm capacitation (GO:0048240) | 6.44221350 |
| 18 | DNA methylation involved in gamete generation (GO:0043046) | 6.27878362 |
| 19 | microtubule depolymerization (GO:0007019) | 5.96571978 |
| 20 | gamete generation (GO:0007276) | 5.94339136 |
| 21 | male meiosis I (GO:0007141) | 5.73292360 |
| 22 | chromosome organization involved in meiosis (GO:0070192) | 5.70474198 |
| 23 | organic cation transport (GO:0015695) | 5.64924386 |
| 24 | regulation of inclusion body assembly (GO:0090083) | 5.50551361 |
| 25 | germ cell development (GO:0007281) | 5.46578864 |
| 26 | * cellular process involved in reproduction in multicellular organism (GO:0022412) | 5.31666799 |
| 27 | ventricular system development (GO:0021591) | 5.12011046 |
| 28 | calcium ion-dependent exocytosis (GO:0017156) | 5.10762828 |
| 29 | seminiferous tubule development (GO:0072520) | 5.07062842 |
| 30 | meiotic nuclear division (GO:0007126) | 5.04366949 |
| 31 | cell recognition (GO:0008037) | 4.97700021 |
| 32 | multicellular organismal reproductive process (GO:0048609) | 4.66296413 |
| 33 | meiosis I (GO:0007127) | 4.62119157 |
| 34 | glycerol ether metabolic process (GO:0006662) | 4.59865170 |
| 35 | regulation of microtubule-based movement (GO:0060632) | 4.49922709 |
| 36 | microtubule severing (GO:0051013) | 4.39705025 |
| 37 | chromosome condensation (GO:0030261) | 4.26118137 |
| 38 | ether metabolic process (GO:0018904) | 4.24661210 |
| 39 | chaperone-mediated protein complex assembly (GO:0051131) | 4.22514225 |
| 40 | spermatid nucleus differentiation (GO:0007289) | 4.20388985 |
| 41 | genitalia morphogenesis (GO:0035112) | 4.19850457 |
| 42 | DNA packaging (GO:0006323) | 4.08986299 |
| 43 | meiotic cell cycle (GO:0051321) | 4.04867495 |
| 44 | monoubiquitinated protein deubiquitination (GO:0035520) | 4.03456010 |
| 45 | left/right pattern formation (GO:0060972) | 3.98846861 |
| 46 | protein localization to cilium (GO:0061512) | 3.93291661 |
| 47 | multicellular organismal development (GO:0007275) | 3.81317779 |
| 48 | sequestering of actin monomers (GO:0042989) | 3.79952019 |
| 49 | lactate metabolic process (GO:0006089) | 3.48981299 |
| 50 | synapsis (GO:0007129) | 3.45538047 |
| 51 | protein K11-linked deubiquitination (GO:0035871) | 3.43420447 |
| 52 | intraciliary transport (GO:0042073) | 3.38112807 |
| 53 | gene silencing by RNA (GO:0031047) | 3.37591158 |
| 54 | GTP biosynthetic process (GO:0006183) | 3.34039563 |
| 55 | meiotic cell cycle process (GO:1903046) | 3.30753930 |
| 56 | alditol metabolic process (GO:0019400) | 3.26593454 |
| 57 | protein polyglutamylation (GO:0018095) | 3.24961000 |
| 58 | polyol catabolic process (GO:0046174) | 3.24733704 |
| 59 | nucleoside diphosphate phosphorylation (GO:0006165) | 3.24127110 |
| 60 | regulation of spindle checkpoint (GO:0090231) | 3.16226760 |
| 61 | mitotic sister chromatid cohesion (GO:0007064) | 3.11613346 |
| 62 | protein refolding (GO:0042026) | 3.10156801 |
| 63 | amino-acid betaine transport (GO:0015838) | 3.09637373 |
| 64 | carnitine transport (GO:0015879) | 3.09637373 |
| 65 | single strand break repair (GO:0000012) | 3.08036600 |
| 66 | glycolytic process (GO:0006096) | 3.05703726 |
| 67 | microtubule polymerization or depolymerization (GO:0031109) | 3.02562309 |
| 68 | carnitine transmembrane transport (GO:1902603) | 3.01603273 |
| 69 | sexual reproduction (GO:0019953) | 3.00026256 |
| 70 | UTP biosynthetic process (GO:0006228) | 2.98896115 |
| 71 | axoneme assembly (GO:0035082) | 2.98130577 |
| 72 | microtubule-based movement (GO:0007018) | 2.95939089 |
| 73 | negative regulation of organelle assembly (GO:1902116) | 2.94043587 |
| 74 | regulation of meiosis I (GO:0060631) | 2.91491998 |
| 75 | cilium organization (GO:0044782) | 2.88513147 |
| 76 | glycerol metabolic process (GO:0006071) | 2.84058244 |
| 77 | cilium morphogenesis (GO:0060271) | 2.82164820 |
| 78 | nucleus organization (GO:0006997) | 2.80167895 |
| 79 | cilium assembly (GO:0042384) | 2.74001437 |
| 80 | UTP metabolic process (GO:0046051) | 2.72959842 |
| 81 | regulation of protein polyubiquitination (GO:1902914) | 2.72331314 |
| 82 | nuclear pore complex assembly (GO:0051292) | 2.66206510 |
| 83 | interferon-gamma secretion (GO:0072643) | 2.62264453 |
| 84 | * cellular component assembly involved in morphogenesis (GO:0010927) | 2.61567302 |
| 85 | gene silencing (GO:0016458) | 2.60788847 |
| 86 | regulation of centriole replication (GO:0046599) | 2.59363024 |
| 87 | centriole assembly (GO:0098534) | 2.51865502 |
| 88 | fusion of sperm to egg plasma membrane (GO:0007342) | 14.3802342 |
| 89 | sperm motility (GO:0030317) | 13.1562586 |
| 90 | sperm-egg recognition (GO:0035036) | 11.5150168 |
| 91 | cell wall macromolecule catabolic process (GO:0016998) | 11.4871870 |
| 92 | cell wall macromolecule metabolic process (GO:0044036) | 11.4871870 |
| 93 | cilium or flagellum-dependent cell motility (GO:0001539) | 11.2724481 |
| 94 | multicellular organism reproduction (GO:0032504) | 11.2161919 |
| 95 | acrosome reaction (GO:0007340) | 11.1361930 |
| 96 | plasma membrane fusion (GO:0045026) | 10.9513789 |
| 97 | binding of sperm to zona pellucida (GO:0007339) | 10.6976816 |
| 98 | * acrosome assembly (GO:0001675) | 10.5617645 |
| 99 | cell-cell recognition (GO:0009988) | 10.3126020 |
| 100 | axonemal dynein complex assembly (GO:0070286) | 10.1853843 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 4.92849510 |
| 2 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 4.60500143 |
| 3 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 3.36355050 |
| 4 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.73593475 |
| 5 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.68448245 |
| 6 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.48479248 |
| 7 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.48032419 |
| 8 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.38129335 |
| 9 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 2.15050988 |
| 10 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 2.13968746 |
| 11 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 2.11310853 |
| 12 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 2.06928912 |
| 13 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.04450274 |
| 14 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 10.6471313 |
| 15 | VDR_22108803_ChIP-Seq_LS180_Human | 1.94995634 |
| 16 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.93715459 |
| 17 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 1.85024394 |
| 18 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.74774463 |
| 19 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.71900508 |
| 20 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.70037678 |
| 21 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.69071068 |
| 22 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.56375444 |
| 23 | GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.55388469 |
| 24 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.55149536 |
| 25 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.53306060 |
| 26 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.51197854 |
| 27 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.48017381 |
| 28 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.47066041 |
| 29 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.45891783 |
| 30 | KDM2B_26808549_Chip-Seq_REH_Human | 1.45673935 |
| 31 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.44781169 |
| 32 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 1.44043586 |
| 33 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.43900020 |
| 34 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.40862591 |
| 35 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.40561703 |
| 36 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.35047223 |
| 37 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.33074117 |
| 38 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.33074117 |
| 39 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.32229003 |
| 40 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.29419071 |
| 41 | LUZP1_20508642_ChIP-Seq_ESCs_Mouse | 1.25500894 |
| 42 | GATA3_21867929_ChIP-Seq_TH1_Mouse | 1.24000088 |
| 43 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.23613542 |
| 44 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.23200541 |
| 45 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.21511643 |
| 46 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.17978944 |
| 47 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 1.16694691 |
| 48 | CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.16557762 |
| 49 | FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.16321654 |
| 50 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.14996833 |
| 51 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.14906328 |
| 52 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 1.14604955 |
| 53 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 1.14454503 |
| 54 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.13703995 |
| 55 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.12218750 |
| 56 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.10099639 |
| 57 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.10099639 |
| 58 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.09745351 |
| 59 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.09578573 |
| 60 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.09480894 |
| 61 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.08543148 |
| 62 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 1.07826826 |
| 63 | OCT4_18555785_Chip-Seq_ESCs_Mouse | 1.05791223 |
| 64 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.05631037 |
| 65 | P53_22387025_ChIP-Seq_ESCs_Mouse | 1.05028476 |
| 66 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.04420831 |
| 67 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.01478158 |
| 68 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.01090445 |
| 69 | SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.00612526 |
| 70 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.00124534 |
| 71 | ESET_19884257_ChIP-Seq_ESCs_Mouse | 0.99473623 |
| 72 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 0.99217794 |
| 73 | CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.98530114 |
| 74 | P300_18555785_Chip-Seq_ESCs_Mouse | 0.97238243 |
| 75 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 0.97144449 |
| 76 | * PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 0.97111947 |
| 77 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 0.95913302 |
| 78 | SPI1_26923725_Chip-Seq_HPCs_Mouse | 0.95544522 |
| 79 | EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 0.93873490 |
| 80 | KLF4_18555785_Chip-Seq_ESCs_Mouse | 0.93232858 |
| 81 | * PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 0.92409158 |
| 82 | MYC_27129775_Chip-Seq_CORNEA_Mouse | 0.92224205 |
| 83 | LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse | 0.91108950 |
| 84 | ESRRB_18555785_Chip-Seq_ESCs_Mouse | 0.90913527 |
| 85 | RXRA_24833708_ChIP-Seq_LIVER_Mouse | 0.90319506 |
| 86 | RCOR3_21632747_ChIP-Seq_MESCs_Mouse | 0.89352184 |
| 87 | * EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 0.89006446 |
| 88 | * ERG_20517297_ChIP-Seq_VCAP_Human | 0.88906637 |
| 89 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 0.88775083 |
| 90 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 0.88009314 |
| 91 | * PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse | 0.87543381 |
| 92 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 0.87010733 |
| 93 | FLI1_21867929_ChIP-Seq_CD8_Mouse | 0.86771601 |
| 94 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 0.86656197 |
| 95 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 0.86117055 |
| 96 | SOX9_26525672_Chip-Seq_HEART_Mouse | 0.85659689 |
| 97 | GF1B_26923725_Chip-Seq_HPCs_Mouse | 0.85312836 |
| 98 | RARA_24833708_ChIP-Seq_LIVER_Mouse | 0.85202633 |
| 99 | PU1_27457419_Chip-Seq_LIVER_Mouse | 0.84473245 |
| 100 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 0.84267922 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 6.08868670 |
| 2 | * MP0001929_abnormal_gametogenesis | 5.57890146 |
| 3 | MP0008877_abnormal_DNA_methylation | 5.35307812 |
| 4 | MP0002210_abnormal_sex_determination | 3.75646158 |
| 5 | MP0002161_abnormal_fertility/fecundity | 3.29217620 |
| 6 | MP0001145_abnormal_male_reproductive | 3.14666502 |
| 7 | MP0000653_abnormal_sex_gland | 2.73045505 |
| 8 | MP0002653_abnormal_ependyma_morphology | 2.22093139 |
| 9 | MP0005670_abnormal_white_adipose | 2.16782904 |
| 10 | MP0005410_abnormal_fertilization | 15.9290187 |
| 11 | MP0002160_abnormal_reproductive_system | 1.85382308 |
| 12 | MP0008057_abnormal_DNA_replication | 1.81464363 |
| 13 | MP0005623_abnormal_meninges_morphology | 1.48530549 |
| 14 | MP0003646_muscle_fatigue | 1.26569156 |
| 15 | MP0005647_abnormal_sex_gland | 1.22604113 |
| 16 | MP0002282_abnormal_trachea_morphology | 1.16007779 |
| 17 | MP0008058_abnormal_DNA_repair | 1.15097874 |
| 18 | MP0001765_abnormal_ion_homeostasis | 1.06730669 |
| 19 | MP0004233_abnormal_muscle_weight | 1.03780777 |
| 20 | MP0008995_early_reproductive_senescence | 1.02372858 |
| 21 | MP0001984_abnormal_olfaction | 0.95586470 |
| 22 | MP0003786_premature_aging | 0.94866936 |
| 23 | MP0003011_delayed_dark_adaptation | 0.93534314 |
| 24 | MP0010094_abnormal_chromosome_stability | 0.93460710 |
| 25 | MP0005389_reproductive_system_phenotype | 0.92281575 |
| 26 | MP0009046_muscle_twitch | 0.83083791 |
| 27 | MP0008007_abnormal_cellular_replicative | 0.82004633 |
| 28 | MP0002234_abnormal_pharynx_morphology | 0.73996564 |
| 29 | MP0004134_abnormal_chest_morphology | 0.73072506 |
| 30 | MP0000569_abnormal_digit_pigmentation | 0.72370636 |
| 31 | MP0003329_amyloid_beta_deposits | 0.57956669 |
| 32 | MP0005636_abnormal_mineral_homeostasis | 0.57646150 |
| 33 | MP0003878_abnormal_ear_physiology | 0.56497552 |
| 34 | MP0005377_hearing/vestibular/ear_phenot | 0.56497552 |
| 35 | MP0001545_abnormal_hematopoietic_system | 0.56345939 |
| 36 | MP0005397_hematopoietic_system_phenotyp | 0.56345939 |
| 37 | MP0010307_abnormal_tumor_latency | 0.51695356 |
| 38 | MP0000358_abnormal_cell_content/ | 0.50596628 |
| 39 | MP0003699_abnormal_female_reproductive | 0.50471842 |
| 40 | MP0004036_abnormal_muscle_relaxation | 0.50338910 |
| 41 | MP0005666_abnormal_adipose_tissue | 0.49371636 |
| 42 | MP0003115_abnormal_respiratory_system | 0.48202909 |
| 43 | MP0004019_abnormal_vitamin_homeostasis | 0.45664978 |
| 44 | MP0004808_abnormal_hematopoietic_stem | 0.43534333 |
| 45 | MP0001324_abnormal_eye_pigmentation | 0.42609222 |
| 46 | MP0005253_abnormal_eye_physiology | 0.40874773 |
| 47 | MP0002928_abnormal_bile_duct | 0.40594492 |
| 48 | MP0009278_abnormal_bone_marrow | 0.39510487 |
| 49 | MP0003950_abnormal_plasma_membrane | 0.39476736 |
| 50 | MP0003111_abnormal_nucleus_morphology | 0.38710796 |
| 51 | MP0001119_abnormal_female_reproductive | 0.38401325 |
| 52 | MP0005551_abnormal_eye_electrophysiolog | 0.37292582 |
| 53 | MP0001764_abnormal_homeostasis | 0.37140722 |
| 54 | MP0001730_embryonic_growth_arrest | 0.35649468 |
| 55 | MP0001727_abnormal_embryo_implantation | 0.33883164 |
| 56 | MP0000604_amyloidosis | 0.32391718 |
| 57 | MP0002269_muscular_atrophy | 0.31703538 |
| 58 | MP0001293_anophthalmia | 0.31141318 |
| 59 | MP0006036_abnormal_mitochondrial_physio | 0.30181768 |
| 60 | MP0002139_abnormal_hepatobiliary_system | 0.29697477 |
| 61 | MP0005391_vision/eye_phenotype | 0.29497611 |
| 62 | MP0002736_abnormal_nociception_after | 0.28833673 |
| 63 | MP0009115_abnormal_fat_cell | 0.25832492 |
| 64 | MP0003879_abnormal_hair_cell | 0.25321965 |
| 65 | MP0002971_abnormal_brown_adipose | 0.25270133 |
| 66 | MP0006072_abnormal_retinal_apoptosis | 0.24154055 |
| 67 | MP0003633_abnormal_nervous_system | 0.24039958 |
| 68 | MP0004133_heterotaxia | 0.22675353 |
| 69 | MP0003077_abnormal_cell_cycle | 0.22585781 |
| 70 | MP0000313_abnormal_cell_death | 0.21605597 |
| 71 | MP0000427_abnormal_hair_cycle | 0.21325963 |
| 72 | MP0003631_nervous_system_phenotype | 0.19538480 |
| 73 | MP0001849_ear_inflammation | 0.19536202 |
| 74 | MP0004811_abnormal_neuron_physiology | 0.19182634 |
| 75 | MP0002169_no_abnormal_phenotype | 0.18953142 |
| 76 | MP0003861_abnormal_nervous_system | 0.18878003 |
| 77 | MP0002873_normal_phenotype | 0.18687648 |
| 78 | MP0002152_abnormal_brain_morphology | 0.17382414 |
| 79 | MP0000751_myopathy | 0.17290103 |
| 80 | MP0000534_abnormal_ureter_morphology | 0.16135614 |
| 81 | MP0002295_abnormal_pulmonary_circulatio | 0.15287034 |
| 82 | MP0002084_abnormal_developmental_patter | 0.15124970 |
| 83 | MP0003045_fibrosis | 0.14158424 |
| 84 | MP0002405_respiratory_system_inflammati | 0.13790052 |
| 85 | MP0003948_abnormal_gas_homeostasis | 0.13169775 |
| 86 | MP0001661_extended_life_span | 0.13129866 |
| 87 | MP0002092_abnormal_eye_morphology | 0.12777180 |
| 88 | MP0002102_abnormal_ear_morphology | 0.12722325 |
| 89 | MP0003942_abnormal_urinary_system | 0.12302077 |
| 90 | MP0000001_mammalian_phenotype | 0.12232419 |
| 91 | MP0001851_eye_inflammation | 0.12095385 |
| 92 | MP0003936_abnormal_reproductive_system | 0.11831192 |
| 93 | MP0002229_neurodegeneration | 0.10792210 |
| 94 | MP0005375_adipose_tissue_phenotype | 0.10791244 |
| 95 | MP0004084_abnormal_cardiac_muscle | 0.10788267 |
| 96 | MP0001672_abnormal_embryogenesis/_devel | 0.10634336 |
| 97 | MP0005380_embryogenesis_phenotype | 0.10634336 |
| 98 | MP0005365_abnormal_bile_salt | 0.10178900 |
| 99 | MP0002970_abnormal_white_adipose | 0.09844593 |
| 100 | MP0000432_abnormal_head_morphology | 0.09570286 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal respiratory motile cilium physiology (HP:0012261) | 9.72861415 |
| 2 | Abnormal respiratory epithelium morphology (HP:0012253) | 9.23490821 |
| 3 | Abnormal respiratory motile cilium morphology (HP:0005938) | 9.23490821 |
| 4 | Abnormal ciliary motility (HP:0012262) | 7.90309024 |
| 5 | Rhinitis (HP:0012384) | 7.77784879 |
| 6 | Chronic bronchitis (HP:0004469) | 7.77038519 |
| 7 | Infertility (HP:0000789) | 6.59428767 |
| 8 | Nasal polyposis (HP:0100582) | 6.33154264 |
| 9 | Abnormality of the nasal mucosa (HP:0000433) | 5.20573630 |
| 10 | Bronchitis (HP:0012387) | 4.46281659 |
| 11 | Bronchiectasis (HP:0002110) | 4.42201126 |
| 12 | Nephronophthisis (HP:0000090) | 4.18087092 |
| 13 | Male infertility (HP:0003251) | 3.89173673 |
| 14 | Recurrent sinusitis (HP:0011108) | 3.65785458 |
| 15 | Recurrent otitis media (HP:0000403) | 3.20648526 |
| 16 | Abnormal spermatogenesis (HP:0008669) | 3.20228552 |
| 17 | Abnormality of the renal medulla (HP:0100957) | 3.17146780 |
| 18 | Abnormality of the lower motor neuron (HP:0002366) | 2.97220689 |
| 19 | Gonadotropin excess (HP:0000837) | 2.91009006 |
| 20 | Tubulointerstitial nephritis (HP:0001970) | 2.84670858 |
| 21 | Abnormality of midbrain morphology (HP:0002418) | 2.60901668 |
| 22 | Molar tooth sign on MRI (HP:0002419) | 2.60901668 |
| 23 | Fibular hypoplasia (HP:0003038) | 2.52922853 |
| 24 | Tubular atrophy (HP:0000092) | 2.49152154 |
| 25 | Medial flaring of the eyebrow (HP:0010747) | 2.49079389 |
| 26 | Tubulointerstitial abnormality (HP:0001969) | 2.39596977 |
| 27 | Amyotrophic lateral sclerosis (HP:0007354) | 2.35307483 |
| 28 | Azoospermia (HP:0000027) | 2.27684587 |
| 29 | Recurrent bronchitis (HP:0002837) | 2.25777086 |
| 30 | Impulsivity (HP:0100710) | 2.05577942 |
| 31 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 13.5343313 |
| 32 | Absent/shortened dynein arms (HP:0200106) | 13.5343313 |
| 33 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 13.4786636 |
| 34 | Postaxial foot polydactyly (HP:0001830) | 1.93596672 |
| 35 | Tubulointerstitial fibrosis (HP:0005576) | 1.90412951 |
| 36 | Stage 5 chronic kidney disease (HP:0003774) | 1.89873325 |
| 37 | Impaired proprioception (HP:0010831) | 1.82349896 |
| 38 | Abnormality of the renal cortex (HP:0011035) | 1.77133917 |
| 39 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.76514726 |
| 40 | Congenital hepatic fibrosis (HP:0002612) | 1.76060167 |
| 41 | Abnormal drinking behavior (HP:0030082) | 1.70271540 |
| 42 | Polydipsia (HP:0001959) | 1.70271540 |
| 43 | Upper motor neuron abnormality (HP:0002127) | 1.69015774 |
| 44 | Abnormality of the dental root (HP:0006486) | 1.68612092 |
| 45 | Taurodontia (HP:0000679) | 1.68612092 |
| 46 | Abnormality of permanent molar morphology (HP:0011071) | 1.68612092 |
| 47 | Oculomotor apraxia (HP:0000657) | 1.67512121 |
| 48 | Abnormality of dentin (HP:0010299) | 1.65844432 |
| 49 | Dyschromatopsia (HP:0007641) | 1.63761956 |
| 50 | 11 pairs of ribs (HP:0000878) | 1.63363806 |
| 51 | Short ribs (HP:0000773) | 1.61154915 |
| 52 | Aplasia/Hypoplasia of the fibula (HP:0006492) | 1.59284960 |
| 53 | Cholecystitis (HP:0001082) | 1.58857841 |
| 54 | Abnormal gallbladder physiology (HP:0012438) | 1.58857841 |
| 55 | Abnormality of renal excretion (HP:0011036) | 1.58708311 |
| 56 | Abnormality of molar (HP:0011077) | 1.56315619 |
| 57 | Abnormality of molar morphology (HP:0011070) | 1.56315619 |
| 58 | Absent frontal sinuses (HP:0002688) | 1.55564859 |
| 59 | Abnormality of the dental pulp (HP:0006479) | 1.54782659 |
| 60 | Cone-shaped epiphyses of the phalanges of the hand (HP:0010230) | 1.53730339 |
| 61 | Renal dysplasia (HP:0000110) | 1.53045685 |
| 62 | Chronic sinusitis (HP:0011109) | 1.52757148 |
| 63 | Facial cleft (HP:0002006) | 1.50119602 |
| 64 | Postaxial hand polydactyly (HP:0001162) | 1.48178703 |
| 65 | Spastic tetraparesis (HP:0001285) | 1.46094493 |
| 66 | Degeneration of anterior horn cells (HP:0002398) | 1.45634953 |
| 67 | Abnormality of the anterior horn cell (HP:0006802) | 1.45634953 |
| 68 | Microglossia (HP:0000171) | 1.44810755 |
| 69 | Cystic liver disease (HP:0006706) | 1.44115396 |
| 70 | J-shaped sella turcica (HP:0002680) | 1.43865719 |
| 71 | Supernumerary spleens (HP:0009799) | 1.42469333 |
| 72 | Breast carcinoma (HP:0003002) | 1.41137780 |
| 73 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.38275799 |
| 74 | Absent epiphyses (HP:0010577) | 1.38275799 |
| 75 | Congenital primary aphakia (HP:0007707) | 1.36788871 |
| 76 | Gait imbalance (HP:0002141) | 1.36468795 |
| 77 | Decreased central vision (HP:0007663) | 1.36023967 |
| 78 | Heterotopia (HP:0002282) | 1.34774432 |
| 79 | Large eyes (HP:0001090) | 1.34048179 |
| 80 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.33500954 |
| 81 | Broad distal phalanx of finger (HP:0009836) | 1.33026009 |
| 82 | Abnormal biliary tract physiology (HP:0012439) | 1.32535135 |
| 83 | Bile duct proliferation (HP:0001408) | 1.32535135 |
| 84 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.31047100 |
| 85 | Bell-shaped thorax (HP:0001591) | 1.31035853 |
| 86 | Pancreatic fibrosis (HP:0100732) | 1.31028080 |
| 87 | Selective tooth agenesis (HP:0001592) | 1.30974828 |
| 88 | Hypoplasia of dental enamel (HP:0006297) | 1.27245748 |
| 89 | Choroideremia (HP:0001139) | 1.26301065 |
| 90 | Deformed sella turcica (HP:0002681) | 1.24413577 |
| 91 | Short thorax (HP:0010306) | 1.22857871 |
| 92 | Nephropathy (HP:0000112) | 1.22066016 |
| 93 | Median cleft lip (HP:0000161) | 1.21542688 |
| 94 | Abnormal urine output (HP:0012590) | 1.21376715 |
| 95 | Hemorrhage of the eye (HP:0011885) | 1.20085889 |
| 96 | Vascular calcification (HP:0004934) | 1.18484838 |
| 97 | True hermaphroditism (HP:0010459) | 1.17914686 |
| 98 | Nephrogenic diabetes insipidus (HP:0009806) | 1.14910333 |
| 99 | Short nail (HP:0001799) | 1.13123652 |
| 100 | Exercise-induced myalgia (HP:0003738) | 1.12716398 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK4 | 9.34064890 |
| 2 | PDK3 | 9.34064890 |
| 3 | PDK2 | 6.08104672 |
| 4 | TESK1 | 4.53950707 |
| 5 | PRKD3 | 3.61667200 |
| 6 | ICK | 3.27054061 |
| 7 | PTK2B | 2.31546618 |
| 8 | WNK4 | 2.17995523 |
| 9 | STK39 | 2.10451242 |
| 10 | PNCK | 1.95984895 |
| 11 | NEK2 | 1.71386910 |
| 12 | STK38 | 1.33583857 |
| 13 | PDK1 | 1.06340463 |
| 14 | DYRK1B | 1.04446603 |
| 15 | TYRO3 | 0.92681674 |
| 16 | WNK1 | 0.90056272 |
| 17 | MAPK15 | 0.85681425 |
| 18 | PASK | 0.81907876 |
| 19 | DYRK3 | 0.80115558 |
| 20 | CCNB1 | 0.77897810 |
| 21 | STK3 | 0.77474225 |
| 22 | IRAK1 | 0.66667172 |
| 23 | TTK | 0.61319445 |
| 24 | CDC7 | 0.59668194 |
| 25 | PINK1 | 0.58065839 |
| 26 | MAP2K6 | 0.52985915 |
| 27 | TESK2 | 0.49111324 |
| 28 | PDPK1 | 0.48312525 |
| 29 | LMTK2 | 0.47503876 |
| 30 | CHEK2 | 0.47202246 |
| 31 | FRK | 0.46815432 |
| 32 | CHEK1 | 0.43765598 |
| 33 | ATR | 0.43712517 |
| 34 | WEE1 | 0.41866504 |
| 35 | EEF2K | 0.38128354 |
| 36 | CAMK1G | 0.37682936 |
| 37 | STK38L | 0.35377547 |
| 38 | NTRK2 | 0.33944296 |
| 39 | ATM | 0.30965415 |
| 40 | RIPK4 | 0.30896607 |
| 41 | PAK1 | 0.29255755 |
| 42 | PRKCG | 0.26252206 |
| 43 | MUSK | 0.22607236 |
| 44 | IRAK2 | 0.22531834 |
| 45 | MAPKAPK5 | 0.21857821 |
| 46 | PAK2 | 0.21482539 |
| 47 | PLK4 | 0.21361949 |
| 48 | CAMKK1 | 0.21361162 |
| 49 | MTOR | 0.21042672 |
| 50 | MAP3K10 | 0.20403438 |
| 51 | PLK1 | 0.19037953 |
| 52 | PRKAA1 | 0.17359527 |
| 53 | RPS6KB1 | 0.14133398 |
| 54 | CDK12 | 0.13653895 |
| 55 | BMPR1B | 0.11451620 |
| 56 | MARK2 | 0.10700285 |
| 57 | WNK3 | 0.10620632 |
| 58 | BRAF | 0.10236504 |
| 59 | NEK6 | 0.09240251 |
| 60 | CDK15 | 0.08844272 |
| 61 | BRSK2 | 0.08794173 |
| 62 | STK10 | 0.08601195 |
| 63 | PRKCZ | 0.08440028 |
| 64 | PRKG1 | 0.08075644 |
| 65 | CSNK2A1 | 0.06917660 |
| 66 | CDK18 | 0.06897306 |
| 67 | PRKCQ | 0.06885967 |
| 68 | PRKACG | 0.06577017 |
| 69 | PAK4 | 0.06166776 |
| 70 | PRKG2 | 0.05850778 |
| 71 | MAP3K4 | 0.05340207 |
| 72 | CDK11A | 0.05225645 |
| 73 | CSNK1D | 0.04874089 |
| 74 | CSF1R | 0.04793371 |
| 75 | MARK3 | 0.04011548 |
| 76 | RPS6KA1 | 0.03998196 |
| 77 | CDK1 | 0.03608547 |
| 78 | CDK14 | 0.02960041 |
| 79 | MAPK8 | 0.02658922 |
| 80 | GSK3B | 0.02300684 |
| 81 | CDK2 | 0.02245082 |
| 82 | PRKDC | 0.01067283 |
| 83 | PKN1 | 0.00765900 |
| 84 | PRKCB | 0.00486819 |
| 85 | PRKACB | 0.00317159 |
| 86 | PTK6 | 0.00123719 |
| 87 | RIPK1 | -0.0493505 |
| 88 | INSR | -0.0460475 |
| 89 | BUB1 | -0.0398898 |
| 90 | PRKACA | -0.0393394 |
| 91 | STK11 | -0.0379079 |
| 92 | PRKCD | -0.0347345 |
| 93 | CAMK2A | -0.0261085 |
| 94 | PAK6 | -0.0242370 |
| 95 | CSK | -0.0236079 |
| 96 | RPS6KA3 | -0.0197044 |
| 97 | PRKCA | -0.0183649 |
| 98 | EGFR | -0.0171029 |
| 99 | BRSK1 | -0.0104450 |
| 100 | CSNK2A2 | -0.0002986 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 5.40029981 |
| 2 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 4.46399953 |
| 3 | Pyruvate metabolism_Homo sapiens_hsa00620 | 4.41165870 |
| 4 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 3.80020404 |
| 5 | Propanoate metabolism_Homo sapiens_hsa00640 | 3.57037818 |
| 6 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 2.93709877 |
| 7 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 2.57384332 |
| 8 | Basal transcription factors_Homo sapiens_hsa03022 | 2.54084629 |
| 9 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 2.49390217 |
| 10 | Selenocompound metabolism_Homo sapiens_hsa00450 | 2.39924937 |
| 11 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 2.39251604 |
| 12 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.97713800 |
| 13 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.92140182 |
| 14 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.89758253 |
| 15 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.85316373 |
| 16 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.84594000 |
| 17 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.84593797 |
| 18 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.80508235 |
| 19 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.79135248 |
| 20 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.75106258 |
| 21 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 1.69387663 |
| 22 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.58784148 |
| 23 | Carbon metabolism_Homo sapiens_hsa01200 | 1.46025085 |
| 24 | Renin secretion_Homo sapiens_hsa04924 | 1.34625951 |
| 25 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.33867786 |
| 26 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.31637964 |
| 27 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.28309274 |
| 28 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.24814630 |
| 29 | Huntingtons disease_Homo sapiens_hsa05016 | 1.20906372 |
| 30 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.18303012 |
| 31 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.17988356 |
| 32 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.17920258 |
| 33 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.14985245 |
| 34 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.12633835 |
| 35 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.08628387 |
| 36 | Mineral absorption_Homo sapiens_hsa04978 | 1.07593200 |
| 37 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.07186446 |
| 38 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 1.04819595 |
| 39 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 1.01600411 |
| 40 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.00402796 |
| 41 | Purine metabolism_Homo sapiens_hsa00230 | 0.96423541 |
| 42 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.94797147 |
| 43 | RNA transport_Homo sapiens_hsa03013 | 0.94696208 |
| 44 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.90326234 |
| 45 | Long-term potentiation_Homo sapiens_hsa04720 | 0.88154194 |
| 46 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.84772507 |
| 47 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.80587468 |
| 48 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.80332281 |
| 49 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.78415916 |
| 50 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.74826254 |
| 51 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.74154648 |
| 52 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.71176582 |
| 53 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.71024381 |
| 54 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.67192620 |
| 55 | ABC transporters_Homo sapiens_hsa02010 | 0.64525821 |
| 56 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.62356457 |
| 57 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.60951491 |
| 58 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.60904400 |
| 59 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.60432583 |
| 60 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.56211154 |
| 61 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.54978292 |
| 62 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.54112711 |
| 63 | Legionellosis_Homo sapiens_hsa05134 | 0.52359841 |
| 64 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.51075699 |
| 65 | Insulin secretion_Homo sapiens_hsa04911 | 0.49730419 |
| 66 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.47729294 |
| 67 | Bile secretion_Homo sapiens_hsa04976 | 0.42931377 |
| 68 | Metabolic pathways_Homo sapiens_hsa01100 | 0.36187659 |
| 69 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.35374163 |
| 70 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.35040792 |
| 71 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.34878335 |
| 72 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.31518632 |
| 73 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.31508974 |
| 74 | Endocytosis_Homo sapiens_hsa04144 | 0.29283137 |
| 75 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.29103529 |
| 76 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.28311086 |
| 77 | Salivary secretion_Homo sapiens_hsa04970 | 0.27991966 |
| 78 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.27821187 |
| 79 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.27643359 |
| 80 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.27412545 |
| 81 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.26146611 |
| 82 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.25926085 |
| 83 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.23871785 |
| 84 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.23155989 |
| 85 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.22433392 |
| 86 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.21929013 |
| 87 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.19763747 |
| 88 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.18820208 |
| 89 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.18699711 |
| 90 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.18566728 |
| 91 | Cell cycle_Homo sapiens_hsa04110 | 0.18424882 |
| 92 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.18038097 |
| 93 | Circadian entrainment_Homo sapiens_hsa04713 | 0.13444183 |
| 94 | Homologous recombination_Homo sapiens_hsa03440 | 0.12231099 |
| 95 | Taste transduction_Homo sapiens_hsa04742 | 0.11629777 |
| 96 | Alcoholism_Homo sapiens_hsa05034 | 0.11608257 |
| 97 | Retinol metabolism_Homo sapiens_hsa00830 | 0.11031939 |
| 98 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.10643939 |
| 99 | Salmonella infection_Homo sapiens_hsa05132 | 0.08204444 |
| 100 | RNA degradation_Homo sapiens_hsa03018 | 0.06691990 |

