

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | plasma membrane fusion (GO:0045026) | 9.83359007 |
| 2 | epithelial cilium movement (GO:0003351) | 9.78404870 |
| 3 | spermatid development (GO:0007286) | 9.76423636 |
| 4 | motile cilium assembly (GO:0044458) | 9.49961043 |
| 5 | piRNA metabolic process (GO:0034587) | 9.22080923 |
| 6 | reproduction (GO:0000003) | 8.85191636 |
| 7 | regulation of cilium movement (GO:0003352) | 8.36386250 |
| 8 | male meiosis (GO:0007140) | 8.28982056 |
| 9 | cilium movement (GO:0003341) | 8.16594394 |
| 10 | synaptonemal complex organization (GO:0070193) | 8.13624311 |
| 11 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 7.95058412 |
| 12 | synaptonemal complex assembly (GO:0007130) | 7.84254958 |
| 13 | single fertilization (GO:0007338) | 7.21821538 |
| 14 | negative regulation of inclusion body assembly (GO:0090084) | 7.18974581 |
| 15 | sperm capacitation (GO:0048240) | 6.85834717 |
| 16 | * spermatogenesis (GO:0007283) | 6.53207519 |
| 17 | * male gamete generation (GO:0048232) | 6.50801228 |
| 18 | fertilization (GO:0009566) | 6.33169323 |
| 19 | organic cation transport (GO:0015695) | 6.11468968 |
| 20 | * gamete generation (GO:0007276) | 5.97322030 |
| 21 | DNA methylation involved in gamete generation (GO:0043046) | 5.92157622 |
| 22 | microtubule depolymerization (GO:0007019) | 5.85315754 |
| 23 | regulation of inclusion body assembly (GO:0090083) | 5.84009062 |
| 24 | male meiosis I (GO:0007141) | 5.76137769 |
| 25 | germ cell development (GO:0007281) | 5.54851887 |
| 26 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 5.45519615 |
| 27 | chromosome organization involved in meiosis (GO:0070192) | 5.39341642 |
| 28 | calcium ion-dependent exocytosis (GO:0017156) | 5.28724423 |
| 29 | ventricular system development (GO:0021591) | 5.27229724 |
| 30 | seminiferous tubule development (GO:0072520) | 5.18704984 |
| 31 | regulation of microtubule-based movement (GO:0060632) | 4.96399128 |
| 32 | meiotic nuclear division (GO:0007126) | 4.90525181 |
| 33 | cell recognition (GO:0008037) | 4.88864428 |
| 34 | microtubule severing (GO:0051013) | 4.75885007 |
| 35 | chromosome condensation (GO:0030261) | 4.68995884 |
| 36 | * multicellular organismal reproductive process (GO:0048609) | 4.68669311 |
| 37 | meiosis I (GO:0007127) | 4.64138639 |
| 38 | DNA packaging (GO:0006323) | 4.52490592 |
| 39 | left/right pattern formation (GO:0060972) | 4.42618871 |
| 40 | glycerol ether metabolic process (GO:0006662) | 4.35834197 |
| 41 | spermatid nucleus differentiation (GO:0007289) | 4.35104222 |
| 42 | meiotic cell cycle (GO:0051321) | 4.15472985 |
| 43 | chaperone-mediated protein complex assembly (GO:0051131) | 4.04073973 |
| 44 | ether metabolic process (GO:0018904) | 4.02516662 |
| 45 | protein localization to cilium (GO:0061512) | 3.96484399 |
| 46 | genitalia morphogenesis (GO:0035112) | 3.92752166 |
| 47 | * multicellular organismal development (GO:0007275) | 3.78368414 |
| 48 | protein polyglutamylation (GO:0018095) | 3.66485218 |
| 49 | monoubiquitinated protein deubiquitination (GO:0035520) | 3.50634462 |
| 50 | single strand break repair (GO:0000012) | 3.46681618 |
| 51 | sexual reproduction (GO:0019953) | 3.39391136 |
| 52 | protein refolding (GO:0042026) | 3.33077733 |
| 53 | regulation of spindle checkpoint (GO:0090231) | 3.31416338 |
| 54 | amino-acid betaine transport (GO:0015838) | 3.30971093 |
| 55 | carnitine transport (GO:0015879) | 3.30971093 |
| 56 | sequestering of actin monomers (GO:0042989) | 3.29724998 |
| 57 | gene silencing by RNA (GO:0031047) | 3.29220517 |
| 58 | intraciliary transport (GO:0042073) | 3.26061068 |
| 59 | carnitine transmembrane transport (GO:1902603) | 3.21072884 |
| 60 | meiotic cell cycle process (GO:1903046) | 3.19649252 |
| 61 | mitotic sister chromatid cohesion (GO:0007064) | 3.16313840 |
| 62 | synapsis (GO:0007129) | 3.15143704 |
| 63 | axoneme assembly (GO:0035082) | 3.13506675 |
| 64 | negative regulation of organelle assembly (GO:1902116) | 3.07754969 |
| 65 | protein K11-linked deubiquitination (GO:0035871) | 3.04373235 |
| 66 | microtubule-based movement (GO:0007018) | 3.03338100 |
| 67 | glycolytic process (GO:0006096) | 3.02554378 |
| 68 | polyol catabolic process (GO:0046174) | 3.02022440 |
| 69 | alditol metabolic process (GO:0019400) | 3.01810159 |
| 70 | nucleoside diphosphate phosphorylation (GO:0006165) | 3.00222889 |
| 71 | nucleus organization (GO:0006997) | 2.96413676 |
| 72 | microtubule polymerization or depolymerization (GO:0031109) | 2.95258694 |
| 73 | lactate metabolic process (GO:0006089) | 2.94945879 |
| 74 | cilium organization (GO:0044782) | 2.92979540 |
| 75 | interferon-gamma secretion (GO:0072643) | 2.86575410 |
| 76 | cilium morphogenesis (GO:0060271) | 2.78198164 |
| 77 | cilium assembly (GO:0042384) | 2.77969885 |
| 78 | cellular component assembly involved in morphogenesis (GO:0010927) | 2.75180400 |
| 79 | GTP biosynthetic process (GO:0006183) | 2.73804920 |
| 80 | regulation of meiosis I (GO:0060631) | 2.70105172 |
| 81 | gene silencing (GO:0016458) | 2.66516548 |
| 82 | RNA localization (GO:0006403) | 2.61226315 |
| 83 | regulation of cilium assembly (GO:1902017) | 2.61128928 |
| 84 | peptidyl-glutamic acid modification (GO:0018200) | 2.58169134 |
| 85 | glycerol metabolic process (GO:0006071) | 2.57405983 |
| 86 | regulation of centriole replication (GO:0046599) | 2.53860682 |
| 87 | nuclear pore complex assembly (GO:0051292) | 2.49676727 |
| 88 | positive regulation of macrophage activation (GO:0043032) | 2.47662684 |
| 89 | sperm motility (GO:0030317) | 13.4458895 |
| 90 | fusion of sperm to egg plasma membrane (GO:0007342) | 12.9139799 |
| 91 | acrosome reaction (GO:0007340) | 11.6738786 |
| 92 | cilium or flagellum-dependent cell motility (GO:0001539) | 11.4747186 |
| 93 | acrosome assembly (GO:0001675) | 11.4056178 |
| 94 | sperm-egg recognition (GO:0035036) | 11.2827201 |
| 95 | cell wall macromolecule metabolic process (GO:0044036) | 11.0206829 |
| 96 | cell wall macromolecule catabolic process (GO:0016998) | 11.0206829 |
| 97 | binding of sperm to zona pellucida (GO:0007339) | 10.4927239 |
| 98 | multicellular organism reproduction (GO:0032504) | 10.4113463 |
| 99 | axonemal dynein complex assembly (GO:0070286) | 10.2963187 |
| 100 | cell-cell recognition (GO:0009988) | 10.0925463 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | * MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 9.82960914 |
| 2 | EZH2_22144423_ChIP-Seq_EOC_Human | 5.33543331 |
| 3 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 4.29755815 |
| 4 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 3.04769539 |
| 5 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.71328592 |
| 6 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.66502987 |
| 7 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 2.49597170 |
| 8 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.34780133 |
| 9 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 2.28774100 |
| 10 | VDR_22108803_ChIP-Seq_LS180_Human | 2.26056489 |
| 11 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.23955222 |
| 12 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 2.18619729 |
| 13 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 2.09416605 |
| 14 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.01976076 |
| 15 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.85262744 |
| 16 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.76608024 |
| 17 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.68424060 |
| 18 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.67319873 |
| 19 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 1.65634774 |
| 20 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.62900928 |
| 21 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.62389670 |
| 22 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.55298921 |
| 23 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.54333669 |
| 24 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.53813110 |
| 25 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.49960644 |
| 26 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 1.46885376 |
| 27 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.43238202 |
| 28 | * GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.42679291 |
| 29 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.40357671 |
| 30 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.40357671 |
| 31 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.38082168 |
| 32 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.36276289 |
| 33 | FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.34501552 |
| 34 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.29922773 |
| 35 | * KDM2B_26808549_Chip-Seq_REH_Human | 1.29076337 |
| 36 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 1.27811346 |
| 37 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 1.27444294 |
| 38 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.26044375 |
| 39 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.21975842 |
| 40 | PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 1.21751200 |
| 41 | * LUZP1_20508642_ChIP-Seq_ESCs_Mouse | 1.21236962 |
| 42 | * P53_21459846_ChIP-Seq_SAOS-2_Human | 1.20910504 |
| 43 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.19358199 |
| 44 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 1.18896363 |
| 45 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.17138703 |
| 46 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 1.16706673 |
| 47 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.16668408 |
| 48 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.14736503 |
| 49 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.14736503 |
| 50 | CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.13823884 |
| 51 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.13563687 |
| 52 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.12414906 |
| 53 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.12318659 |
| 54 | * GATA3_21867929_ChIP-Seq_TH1_Mouse | 1.11745150 |
| 55 | SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.09353523 |
| 56 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.07942452 |
| 57 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.07555991 |
| 58 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.06894256 |
| 59 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.06049851 |
| 60 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.05822436 |
| 61 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.05613777 |
| 62 | CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.04726489 |
| 63 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.04553795 |
| 64 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.04532630 |
| 65 | PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 1.04317383 |
| 66 | RCOR3_21632747_ChIP-Seq_MESCs_Mouse | 1.04144930 |
| 67 | SPI1_26923725_Chip-Seq_HPCs_Mouse | 1.03111619 |
| 68 | RXRA_24833708_ChIP-Seq_LIVER_Mouse | 1.02193037 |
| 69 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.02155423 |
| 70 | ESET_19884257_ChIP-Seq_ESCs_Mouse | 0.99762954 |
| 71 | * MYC_27129775_Chip-Seq_CORNEA_Mouse | 0.97847383 |
| 72 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 0.97795893 |
| 73 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 0.97284530 |
| 74 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 0.96449653 |
| 75 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 0.95601899 |
| 76 | RARA_24833708_ChIP-Seq_LIVER_Mouse | 0.95237338 |
| 77 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 0.94848331 |
| 78 | PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse | 0.94656712 |
| 79 | GATA1_19941827_ChIP-Seq_MEL86_Mouse | 0.94382818 |
| 80 | SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 0.93039477 |
| 81 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 0.92183989 |
| 82 | OCT4_18555785_Chip-Seq_ESCs_Mouse | 0.92083111 |
| 83 | LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse | 0.91113434 |
| 84 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 0.90404913 |
| 85 | FLI1_21867929_ChIP-Seq_CD8_Mouse | 0.90184364 |
| 86 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.89918750 |
| 87 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 0.89649939 |
| 88 | SOX2_21211035_ChIP-Seq_LN229_Human | 0.89512932 |
| 89 | CTCF_20526341_ChIP-Seq_ESCs_Human | 0.89343125 |
| 90 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 0.89338642 |
| 91 | PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse | 0.89310633 |
| 92 | P53_22387025_ChIP-Seq_ESCs_Mouse | 0.89139139 |
| 93 | RNF2_27304074_Chip-Seq_NSC_Mouse | 0.88717070 |
| 94 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 0.88272448 |
| 95 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 0.87869653 |
| 96 | JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse | 0.87866402 |
| 97 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 0.87545571 |
| 98 | SOX11_22085726_ChIP-Seq_ESNs_Mouse | 0.87201337 |
| 99 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 0.87104482 |
| 100 | TAF15_26573619_Chip-Seq_HEK293_Human | 0.86404528 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 6.06498574 |
| 2 | MP0001929_abnormal_gametogenesis | 5.59490160 |
| 3 | MP0008877_abnormal_DNA_methylation | 4.83468619 |
| 4 | MP0002210_abnormal_sex_determination | 3.63668545 |
| 5 | MP0002161_abnormal_fertility/fecundity | 3.30019657 |
| 6 | MP0001145_abnormal_male_reproductive | 3.07019331 |
| 7 | MP0000653_abnormal_sex_gland | 2.65081695 |
| 8 | MP0002653_abnormal_ependyma_morphology | 2.42912521 |
| 9 | MP0005670_abnormal_white_adipose | 2.41870851 |
| 10 | MP0005410_abnormal_fertilization | 16.0622623 |
| 11 | MP0002160_abnormal_reproductive_system | 1.87432845 |
| 12 | MP0003646_muscle_fatigue | 1.64219897 |
| 13 | MP0005623_abnormal_meninges_morphology | 1.50214912 |
| 14 | MP0004233_abnormal_muscle_weight | 1.38208872 |
| 15 | MP0002282_abnormal_trachea_morphology | 1.19420395 |
| 16 | MP0001984_abnormal_olfaction | 1.10347773 |
| 17 | MP0001765_abnormal_ion_homeostasis | 1.08338248 |
| 18 | MP0005647_abnormal_sex_gland | 0.99708891 |
| 19 | MP0008057_abnormal_DNA_replication | 0.96493364 |
| 20 | MP0008058_abnormal_DNA_repair | 0.95777575 |
| 21 | MP0008995_early_reproductive_senescence | 0.95122987 |
| 22 | MP0005389_reproductive_system_phenotype | 0.92790946 |
| 23 | MP0009046_muscle_twitch | 0.86842503 |
| 24 | MP0003011_delayed_dark_adaptation | 0.84299551 |
| 25 | MP0002234_abnormal_pharynx_morphology | 0.78126467 |
| 26 | MP0010094_abnormal_chromosome_stability | 0.71611211 |
| 27 | MP0003115_abnormal_respiratory_system | 0.69551684 |
| 28 | MP0005377_hearing/vestibular/ear_phenot | 0.69076603 |
| 29 | MP0003878_abnormal_ear_physiology | 0.69076603 |
| 30 | MP0000569_abnormal_digit_pigmentation | 0.66908034 |
| 31 | MP0003786_premature_aging | 0.58661925 |
| 32 | MP0005636_abnormal_mineral_homeostasis | 0.56722708 |
| 33 | MP0003329_amyloid_beta_deposits | 0.56195525 |
| 34 | MP0000358_abnormal_cell_content/ | 0.56173867 |
| 35 | MP0003950_abnormal_plasma_membrane | 0.53907229 |
| 36 | MP0005397_hematopoietic_system_phenotyp | 0.53475160 |
| 37 | MP0001545_abnormal_hematopoietic_system | 0.53475160 |
| 38 | MP0008007_abnormal_cellular_replicative | 0.52594133 |
| 39 | MP0009278_abnormal_bone_marrow | 0.52023185 |
| 40 | MP0005666_abnormal_adipose_tissue | 0.48747190 |
| 41 | MP0003699_abnormal_female_reproductive | 0.47873071 |
| 42 | MP0004036_abnormal_muscle_relaxation | 0.46800145 |
| 43 | MP0001324_abnormal_eye_pigmentation | 0.42137613 |
| 44 | MP0002928_abnormal_bile_duct | 0.41240329 |
| 45 | MP0002269_muscular_atrophy | 0.41062450 |
| 46 | MP0005253_abnormal_eye_physiology | 0.39590820 |
| 47 | MP0006036_abnormal_mitochondrial_physio | 0.39278680 |
| 48 | MP0001293_anophthalmia | 0.39130684 |
| 49 | MP0003111_abnormal_nucleus_morphology | 0.37952433 |
| 50 | MP0002736_abnormal_nociception_after | 0.36764089 |
| 51 | MP0001764_abnormal_homeostasis | 0.36657061 |
| 52 | MP0005551_abnormal_eye_electrophysiolog | 0.36338646 |
| 53 | MP0004808_abnormal_hematopoietic_stem | 0.33828962 |
| 54 | MP0000534_abnormal_ureter_morphology | 0.33481183 |
| 55 | MP0004811_abnormal_neuron_physiology | 0.33328677 |
| 56 | MP0001119_abnormal_female_reproductive | 0.31933005 |
| 57 | MP0001730_embryonic_growth_arrest | 0.31650868 |
| 58 | MP0005391_vision/eye_phenotype | 0.31151861 |
| 59 | MP0003879_abnormal_hair_cell | 0.30816381 |
| 60 | MP0009115_abnormal_fat_cell | 0.29583381 |
| 61 | MP0008961_abnormal_basal_metabolism | 0.28913351 |
| 62 | MP0000751_myopathy | 0.28679663 |
| 63 | MP0002971_abnormal_brown_adipose | 0.28575229 |
| 64 | MP0001727_abnormal_embryo_implantation | 0.27737956 |
| 65 | MP0001661_extended_life_span | 0.27715937 |
| 66 | MP0003633_abnormal_nervous_system | 0.27329849 |
| 67 | MP0000604_amyloidosis | 0.26785350 |
| 68 | MP0003861_abnormal_nervous_system | 0.26474561 |
| 69 | MP0004019_abnormal_vitamin_homeostasis | 0.25989322 |
| 70 | MP0010307_abnormal_tumor_latency | 0.25743608 |
| 71 | MP0002152_abnormal_brain_morphology | 0.25729424 |
| 72 | MP0004133_heterotaxia | 0.25691675 |
| 73 | MP0003942_abnormal_urinary_system | 0.25639332 |
| 74 | MP0004134_abnormal_chest_morphology | 0.25307438 |
| 75 | MP0003045_fibrosis | 0.24701336 |
| 76 | MP0006035_abnormal_mitochondrial_morpho | 0.22365389 |
| 77 | MP0004043_abnormal_pH_regulation | 0.21888420 |
| 78 | MP0004742_abnormal_vestibular_system | 0.21867944 |
| 79 | MP0003631_nervous_system_phenotype | 0.21743308 |
| 80 | MP0003787_abnormal_imprinting | 0.21686508 |
| 81 | MP0002169_no_abnormal_phenotype | 0.21103937 |
| 82 | MP0002873_normal_phenotype | 0.20858929 |
| 83 | MP0003948_abnormal_gas_homeostasis | 0.20206779 |
| 84 | MP0004270_analgesia | 0.20103629 |
| 85 | MP0001968_abnormal_touch/_nociception | 0.19697330 |
| 86 | MP0000313_abnormal_cell_death | 0.19091087 |
| 87 | MP0003936_abnormal_reproductive_system | 0.18069471 |
| 88 | MP0002092_abnormal_eye_morphology | 0.17487376 |
| 89 | MP0002229_neurodegeneration | 0.16696445 |
| 90 | MP0001440_abnormal_grooming_behavior | 0.16364620 |
| 91 | MP0002572_abnormal_emotion/affect_behav | 0.16288724 |
| 92 | MP0002084_abnormal_developmental_patter | 0.15980508 |
| 93 | MP0005423_abnormal_somatic_nervous | 0.15701659 |
| 94 | MP0002295_abnormal_pulmonary_circulatio | 0.15347317 |
| 95 | MP0000001_mammalian_phenotype | 0.14150198 |
| 96 | MP0001849_ear_inflammation | 0.14035775 |
| 97 | MP0003959_abnormal_lean_body | 0.13831234 |
| 98 | MP0002102_abnormal_ear_morphology | 0.13789389 |
| 99 | MP0005375_adipose_tissue_phenotype | 0.13248371 |
| 100 | MP0002822_catalepsy | 0.12847884 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal respiratory motile cilium physiology (HP:0012261) | 9.34531020 |
| 2 | Abnormal respiratory motile cilium morphology (HP:0005938) | 9.07819077 |
| 3 | Abnormal respiratory epithelium morphology (HP:0012253) | 9.07819077 |
| 4 | Rhinitis (HP:0012384) | 7.75036985 |
| 5 | Chronic bronchitis (HP:0004469) | 7.38261460 |
| 6 | Abnormal ciliary motility (HP:0012262) | 7.33342388 |
| 7 | Infertility (HP:0000789) | 6.88673097 |
| 8 | Nasal polyposis (HP:0100582) | 6.44670921 |
| 9 | Abnormality of the nasal mucosa (HP:0000433) | 5.29527202 |
| 10 | Bronchitis (HP:0012387) | 4.52845660 |
| 11 | Bronchiectasis (HP:0002110) | 4.51728971 |
| 12 | Nephronophthisis (HP:0000090) | 4.47307591 |
| 13 | Male infertility (HP:0003251) | 4.15884899 |
| 14 | Abnormality of the renal medulla (HP:0100957) | 3.38469057 |
| 15 | Abnormal spermatogenesis (HP:0008669) | 3.32627580 |
| 16 | Recurrent otitis media (HP:0000403) | 3.29153141 |
| 17 | Recurrent sinusitis (HP:0011108) | 3.23332164 |
| 18 | Gonadotropin excess (HP:0000837) | 2.94280319 |
| 19 | Tubulointerstitial nephritis (HP:0001970) | 2.87022009 |
| 20 | Abnormality of the lower motor neuron (HP:0002366) | 2.82142096 |
| 21 | Tubular atrophy (HP:0000092) | 2.68470766 |
| 22 | Abnormality of midbrain morphology (HP:0002418) | 2.65355207 |
| 23 | Molar tooth sign on MRI (HP:0002419) | 2.65355207 |
| 24 | Recurrent bronchitis (HP:0002837) | 2.62568461 |
| 25 | Tubulointerstitial abnormality (HP:0001969) | 2.53286339 |
| 26 | Impulsivity (HP:0100710) | 2.50293345 |
| 27 | Medial flaring of the eyebrow (HP:0010747) | 2.42633282 |
| 28 | Amyotrophic lateral sclerosis (HP:0007354) | 2.30008688 |
| 29 | Azoospermia (HP:0000027) | 2.28673201 |
| 30 | Abnormal gallbladder physiology (HP:0012438) | 2.14227463 |
| 31 | Cholecystitis (HP:0001082) | 2.14227463 |
| 32 | Tubulointerstitial fibrosis (HP:0005576) | 2.10184411 |
| 33 | Fibular hypoplasia (HP:0003038) | 2.07610370 |
| 34 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 13.1616355 |
| 35 | Absent/shortened dynein arms (HP:0200106) | 13.1027564 |
| 36 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 13.1027564 |
| 37 | Stage 5 chronic kidney disease (HP:0003774) | 1.97483485 |
| 38 | Postaxial foot polydactyly (HP:0001830) | 1.96217429 |
| 39 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.93240298 |
| 40 | Abnormal drinking behavior (HP:0030082) | 1.92515907 |
| 41 | Polydipsia (HP:0001959) | 1.92515907 |
| 42 | Spastic tetraparesis (HP:0001285) | 1.90102041 |
| 43 | Dyschromatopsia (HP:0007641) | 1.81615151 |
| 44 | Impaired proprioception (HP:0010831) | 1.81503905 |
| 45 | Abnormality of the renal cortex (HP:0011035) | 1.81235781 |
| 46 | Congenital hepatic fibrosis (HP:0002612) | 1.77695784 |
| 47 | Oculomotor apraxia (HP:0000657) | 1.73541686 |
| 48 | Short ribs (HP:0000773) | 1.70434106 |
| 49 | Abnormality of renal excretion (HP:0011036) | 1.66603365 |
| 50 | Heterotopia (HP:0002282) | 1.64304407 |
| 51 | Choroideremia (HP:0001139) | 1.63675326 |
| 52 | Renal dysplasia (HP:0000110) | 1.62766898 |
| 53 | Abnormality of dentin (HP:0010299) | 1.61664205 |
| 54 | Abnormality of permanent molar morphology (HP:0011071) | 1.58925153 |
| 55 | Abnormality of the dental root (HP:0006486) | 1.58925153 |
| 56 | Taurodontia (HP:0000679) | 1.58925153 |
| 57 | Bell-shaped thorax (HP:0001591) | 1.56897935 |
| 58 | Postaxial hand polydactyly (HP:0001162) | 1.52020673 |
| 59 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.51914795 |
| 60 | Absent epiphyses (HP:0010577) | 1.51914795 |
| 61 | Absent frontal sinuses (HP:0002688) | 1.50751450 |
| 62 | Decreased central vision (HP:0007663) | 1.50411538 |
| 63 | Upper motor neuron abnormality (HP:0002127) | 1.48608102 |
| 64 | Bile duct proliferation (HP:0001408) | 1.47260722 |
| 65 | Abnormal biliary tract physiology (HP:0012439) | 1.47260722 |
| 66 | Abnormality of molar morphology (HP:0011070) | 1.46562965 |
| 67 | Abnormality of molar (HP:0011077) | 1.46562965 |
| 68 | Abnormality of the dental pulp (HP:0006479) | 1.45716541 |
| 69 | J-shaped sella turcica (HP:0002680) | 1.44505229 |
| 70 | Cone-shaped epiphyses of the phalanges of the hand (HP:0010230) | 1.44146489 |
| 71 | Chronic sinusitis (HP:0011109) | 1.44078647 |
| 72 | Facial cleft (HP:0002006) | 1.43923137 |
| 73 | Neurofibrillary tangles (HP:0002185) | 1.40348574 |
| 74 | Deformed sella turcica (HP:0002681) | 1.39737748 |
| 75 | Abnormal urine output (HP:0012590) | 1.39220098 |
| 76 | Broad distal phalanx of finger (HP:0009836) | 1.36542760 |
| 77 | Hemorrhage of the eye (HP:0011885) | 1.35444781 |
| 78 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.35427775 |
| 79 | Cystic liver disease (HP:0006706) | 1.35104148 |
| 80 | Supernumerary spleens (HP:0009799) | 1.33290174 |
| 81 | Microglossia (HP:0000171) | 1.32268385 |
| 82 | Short thorax (HP:0010306) | 1.32046602 |
| 83 | Degeneration of anterior horn cells (HP:0002398) | 1.29785575 |
| 84 | Abnormality of the anterior horn cell (HP:0006802) | 1.29785575 |
| 85 | Exercise-induced myalgia (HP:0003738) | 1.29292066 |
| 86 | Nephropathy (HP:0000112) | 1.28717535 |
| 87 | Aplasia/Hypoplasia of the fibula (HP:0006492) | 1.26746974 |
| 88 | Cerebellar dysplasia (HP:0007033) | 1.25371106 |
| 89 | Short femoral neck (HP:0100864) | 1.25047682 |
| 90 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 1.24829081 |
| 91 | Polyuria (HP:0000103) | 1.22879949 |
| 92 | Easy fatigability (HP:0003388) | 1.22206229 |
| 93 | Median cleft lip (HP:0000161) | 1.22017248 |
| 94 | Congenital primary aphakia (HP:0007707) | 1.21148647 |
| 95 | Congenital malformation of the right heart (HP:0011723) | 1.21136595 |
| 96 | Double outlet right ventricle (HP:0001719) | 1.21136595 |
| 97 | Gait imbalance (HP:0002141) | 1.21132955 |
| 98 | Abnormality of ocular smooth pursuit (HP:0000617) | 1.20028689 |
| 99 | Bundle branch block (HP:0011710) | 1.17374259 |
| 100 | Short nail (HP:0001799) | 1.17354475 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK4 | 8.51959353 |
| 2 | PDK3 | 8.51959353 |
| 3 | TESK1 | 5.84125309 |
| 4 | PDK2 | 5.51149871 |
| 5 | PRKD3 | 4.65496481 |
| 6 | ICK | 4.14146620 |
| 7 | PTK2B | 2.39864755 |
| 8 | WNK4 | 2.29747759 |
| 9 | STK39 | 2.16844169 |
| 10 | PNCK | 2.14366000 |
| 11 | NEK2 | 1.81682736 |
| 12 | STK38 | 1.73537196 |
| 13 | DYRK1B | 1.32186437 |
| 14 | PDK1 | 1.07498561 |
| 15 | MAPK15 | 1.00814003 |
| 16 | WNK1 | 0.98077185 |
| 17 | TYRO3 | 0.95407539 |
| 18 | DYRK3 | 0.82850110 |
| 19 | CCNB1 | 0.81336594 |
| 20 | PASK | 0.78959871 |
| 21 | PINK1 | 0.74046525 |
| 22 | STK3 | 0.73426888 |
| 23 | IRAK1 | 0.65868384 |
| 24 | TTK | 0.59353902 |
| 25 | PDPK1 | 0.57606378 |
| 26 | EEF2K | 0.51183690 |
| 27 | RIPK4 | 0.50012417 |
| 28 | TESK2 | 0.48644422 |
| 29 | CAMK1G | 0.47887380 |
| 30 | CDC7 | 0.47737423 |
| 31 | NTRK2 | 0.47727383 |
| 32 | CHEK2 | 0.46390578 |
| 33 | CHEK1 | 0.41143034 |
| 34 | PRKCG | 0.37387852 |
| 35 | MAP2K6 | 0.37170290 |
| 36 | LMTK2 | 0.36792757 |
| 37 | MUSK | 0.35322497 |
| 38 | ATR | 0.34864686 |
| 39 | WEE1 | 0.33496898 |
| 40 | IRAK2 | 0.33055316 |
| 41 | PAK1 | 0.32748075 |
| 42 | STK38L | 0.29729879 |
| 43 | CAMKK1 | 0.28797250 |
| 44 | ATM | 0.28035692 |
| 45 | PAK2 | 0.26026575 |
| 46 | MTOR | 0.25971431 |
| 47 | MARK2 | 0.25895076 |
| 48 | PRKAA1 | 0.20380255 |
| 49 | MAPKAPK5 | 0.18364431 |
| 50 | RPS6KB1 | 0.17794204 |
| 51 | PAK4 | 0.17288247 |
| 52 | MAP3K4 | 0.16237109 |
| 53 | MAP3K10 | 0.15268441 |
| 54 | PRKCZ | 0.13948020 |
| 55 | PLK1 | 0.13826837 |
| 56 | PLK4 | 0.13720931 |
| 57 | WNK3 | 0.13212245 |
| 58 | NEK6 | 0.12094326 |
| 59 | CDK3 | 0.12052229 |
| 60 | CDK15 | 0.10236992 |
| 61 | BRAF | 0.10185923 |
| 62 | PRKCQ | 0.09999783 |
| 63 | CSF1R | 0.09102125 |
| 64 | BMPR1B | 0.08161445 |
| 65 | CDK18 | 0.08009280 |
| 66 | CDK11A | 0.07354588 |
| 67 | CDK12 | 0.05762309 |
| 68 | PAK6 | 0.05527705 |
| 69 | CSNK2A1 | 0.05139105 |
| 70 | CSNK1D | 0.04762023 |
| 71 | RPS6KA1 | 0.04463767 |
| 72 | GSK3B | 0.03854466 |
| 73 | CDK14 | 0.03692050 |
| 74 | PRKACG | 0.02995218 |
| 75 | MAPK8 | 0.02971524 |
| 76 | STK11 | 0.02858529 |
| 77 | CDK1 | 0.02533720 |
| 78 | PRKG1 | 0.02265420 |
| 79 | PRKCB | 0.01511601 |
| 80 | CDK2 | 0.01281224 |
| 81 | CAMK2A | 0.00436321 |
| 82 | BRSK2 | 0.00272399 |
| 83 | TAOK1 | 0.00175305 |
| 84 | PRKG2 | 0.00036537 |
| 85 | AURKA | -0.0416541 |
| 86 | CDK6 | -0.0395894 |
| 87 | PRKCD | -0.0394579 |
| 88 | CLK1 | -0.0370811 |
| 89 | ZAP70 | -0.0349404 |
| 90 | PIM1 | -0.0300137 |
| 91 | CSNK2A2 | -0.0228287 |
| 92 | PRKDC | -0.0216698 |
| 93 | RPS6KA3 | -0.0164091 |
| 94 | EGFR | -0.0156502 |
| 95 | PRKACB | -0.0146551 |
| 96 | BRSK1 | -0.0115786 |
| 97 | MAP2K7 | -0.0102153 |
| 98 | PRKCA | -0.0098596 |
| 99 | MARK3 | -0.0083970 |
| 100 | STK10 | -0.0032749 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 4.38890181 |
| 2 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 4.32981037 |
| 3 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 4.06492621 |
| 4 | Pyruvate metabolism_Homo sapiens_hsa00620 | 3.97263238 |
| 5 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.99925956 |
| 6 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 2.87493812 |
| 7 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 2.81440794 |
| 8 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 2.76797929 |
| 9 | Basal transcription factors_Homo sapiens_hsa03022 | 2.35076473 |
| 10 | Selenocompound metabolism_Homo sapiens_hsa00450 | 2.30290511 |
| 11 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 2.24758093 |
| 12 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 2.11601194 |
| 13 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 2.10473922 |
| 14 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.97388998 |
| 15 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.91987543 |
| 16 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.83787457 |
| 17 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.83316116 |
| 18 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.75631404 |
| 19 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.74759274 |
| 20 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.73197422 |
| 21 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.64002708 |
| 22 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.57807914 |
| 23 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.56261107 |
| 24 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.51060195 |
| 25 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.45316093 |
| 26 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.36433636 |
| 27 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.35351391 |
| 28 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.35100049 |
| 29 | Renin secretion_Homo sapiens_hsa04924 | 1.35003680 |
| 30 | Carbon metabolism_Homo sapiens_hsa01200 | 1.34755441 |
| 31 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.34377434 |
| 32 | Huntingtons disease_Homo sapiens_hsa05016 | 1.33209423 |
| 33 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.30759722 |
| 34 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.25338497 |
| 35 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.23389527 |
| 36 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.22002696 |
| 37 | Mineral absorption_Homo sapiens_hsa04978 | 1.17577490 |
| 38 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.14127162 |
| 39 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 1.13081734 |
| 40 | Long-term potentiation_Homo sapiens_hsa04720 | 1.00222129 |
| 41 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.92940734 |
| 42 | Purine metabolism_Homo sapiens_hsa00230 | 0.92147511 |
| 43 | RNA transport_Homo sapiens_hsa03013 | 0.91439790 |
| 44 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.88839042 |
| 45 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.84915871 |
| 46 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.82214300 |
| 47 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.78957900 |
| 48 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.77700754 |
| 49 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.77272015 |
| 50 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.76962311 |
| 51 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.75230765 |
| 52 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.74988233 |
| 53 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.74050366 |
| 54 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.72706262 |
| 55 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.72652418 |
| 56 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.70038372 |
| 57 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.68314556 |
| 58 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.66086446 |
| 59 | ABC transporters_Homo sapiens_hsa02010 | 0.65860301 |
| 60 | Insulin secretion_Homo sapiens_hsa04911 | 0.65767206 |
| 61 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.65604421 |
| 62 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.63029766 |
| 63 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.60012846 |
| 64 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.56387279 |
| 65 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.53590434 |
| 66 | Bile secretion_Homo sapiens_hsa04976 | 0.53547228 |
| 67 | Legionellosis_Homo sapiens_hsa05134 | 0.53149235 |
| 68 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.49288922 |
| 69 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.48614294 |
| 70 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.47407211 |
| 71 | Endocytosis_Homo sapiens_hsa04144 | 0.44940460 |
| 72 | Salivary secretion_Homo sapiens_hsa04970 | 0.43696964 |
| 73 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.43654167 |
| 74 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.42096445 |
| 75 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.39866184 |
| 76 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.37276382 |
| 77 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.36642617 |
| 78 | Circadian entrainment_Homo sapiens_hsa04713 | 0.36402364 |
| 79 | Taste transduction_Homo sapiens_hsa04742 | 0.34392440 |
| 80 | Alcoholism_Homo sapiens_hsa05034 | 0.33636404 |
| 81 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.33058909 |
| 82 | Metabolic pathways_Homo sapiens_hsa01100 | 0.31253543 |
| 83 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.30472092 |
| 84 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.29373438 |
| 85 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.28251562 |
| 86 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.28208654 |
| 87 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.27246750 |
| 88 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.26502206 |
| 89 | Olfactory transduction_Homo sapiens_hsa04740 | 0.23383971 |
| 90 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.22877068 |
| 91 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.22043175 |
| 92 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.21930432 |
| 93 | Cocaine addiction_Homo sapiens_hsa05030 | 0.21441058 |
| 94 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.20628691 |
| 95 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.18989239 |
| 96 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.17691430 |
| 97 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.17131967 |
| 98 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.09910317 |
| 99 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.09780896 |
| 100 | Salmonella infection_Homo sapiens_hsa05132 | 0.09310601 |

