

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | spermatid development (GO:0007286) | 9.94825807 |
| 2 | epithelial cilium movement (GO:0003351) | 9.91915141 |
| 3 | plasma membrane fusion (GO:0045026) | 9.71453510 |
| 4 | axonemal dynein complex assembly (GO:0070286) | 9.51467213 |
| 5 | motile cilium assembly (GO:0044458) | 9.33367312 |
| 6 | reproduction (GO:0000003) | 9.14308058 |
| 7 | regulation of cilium movement (GO:0003352) | 8.58564021 |
| 8 | cilium movement (GO:0003341) | 7.93532656 |
| 9 | cilium or flagellum-dependent cell motility (GO:0001539) | 7.90233151 |
| 10 | negative regulation of inclusion body assembly (GO:0090084) | 7.79933256 |
| 11 | single fertilization (GO:0007338) | 7.28293389 |
| 12 | sperm capacitation (GO:0048240) | 7.12991581 |
| 13 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 7.09068670 |
| 14 | organic cation transport (GO:0015695) | 7.01298785 |
| 15 | spermatogenesis (GO:0007283) | 6.96585553 |
| 16 | male gamete generation (GO:0048232) | 6.93946016 |
| 17 | synaptonemal complex organization (GO:0070193) | 6.81830666 |
| 18 | microtubule depolymerization (GO:0007019) | 6.81639996 |
| 19 | synaptonemal complex assembly (GO:0007130) | 6.71360138 |
| 20 | male meiosis (GO:0007140) | 6.46559169 |
| 21 | gamete generation (GO:0007276) | 6.38003333 |
| 22 | regulation of inclusion body assembly (GO:0090083) | 6.36302382 |
| 23 | piRNA metabolic process (GO:0034587) | 6.34386894 |
| 24 | fertilization (GO:0009566) | 6.22258511 |
| 25 | calcium ion-dependent exocytosis (GO:0017156) | 5.87022223 |
| 26 | chromosome condensation (GO:0030261) | 5.79049990 |
| 27 | glycerol ether metabolic process (GO:0006662) | 5.64357091 |
| 28 | spermatid nucleus differentiation (GO:0007289) | 5.62086435 |
| 29 | DNA packaging (GO:0006323) | 5.47688423 |
| 30 | germ cell development (GO:0007281) | 5.45868869 |
| 31 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 5.35153883 |
| 32 | ether metabolic process (GO:0018904) | 5.21695966 |
| 33 | cell recognition (GO:0008037) | 5.05464819 |
| 34 | multicellular organismal reproductive process (GO:0048609) | 5.02688873 |
| 35 | ventricular system development (GO:0021591) | 5.02495257 |
| 36 | regulation of microtubule-based movement (GO:0060632) | 5.02125210 |
| 37 | sexual reproduction (GO:0019953) | 4.86455748 |
| 38 | microtubule severing (GO:0051013) | 4.79997951 |
| 39 | male meiosis I (GO:0007141) | 4.67820902 |
| 40 | single strand break repair (GO:0000012) | 4.66099518 |
| 41 | chromosome organization involved in meiosis (GO:0070192) | 4.54365140 |
| 42 | left/right pattern formation (GO:0060972) | 4.50632023 |
| 43 | seminiferous tubule development (GO:0072520) | 4.46595489 |
| 44 | DNA methylation involved in gamete generation (GO:0043046) | 4.18792279 |
| 45 | chaperone-mediated protein complex assembly (GO:0051131) | 4.06639797 |
| 46 | multicellular organismal development (GO:0007275) | 4.04687057 |
| 47 | meiotic nuclear division (GO:0007126) | 3.94044351 |
| 48 | meiosis I (GO:0007127) | 3.70247434 |
| 49 | microtubule polymerization or depolymerization (GO:0031109) | 3.65769400 |
| 50 | sequestering of actin monomers (GO:0042989) | 3.65363596 |
| 51 | protein K11-linked deubiquitination (GO:0035871) | 3.53009802 |
| 52 | protein refolding (GO:0042026) | 3.46270190 |
| 53 | genitalia morphogenesis (GO:0035112) | 3.41813441 |
| 54 | protein polyglutamylation (GO:0018095) | 3.40914441 |
| 55 | regulation of spindle checkpoint (GO:0090231) | 3.33434826 |
| 56 | protein localization to cilium (GO:0061512) | 3.22239062 |
| 57 | nucleoside diphosphate phosphorylation (GO:0006165) | 3.21983664 |
| 58 | GTP biosynthetic process (GO:0006183) | 3.21500739 |
| 59 | glycolytic process (GO:0006096) | 3.20950581 |
| 60 | RNA destabilization (GO:0050779) | 3.18602963 |
| 61 | carnitine transport (GO:0015879) | 3.10793096 |
| 62 | amino-acid betaine transport (GO:0015838) | 3.10793096 |
| 63 | nucleus organization (GO:0006997) | 3.10358934 |
| 64 | meiotic cell cycle (GO:0051321) | 3.09057386 |
| 65 | chromatin silencing (GO:0006342) | 3.03496966 |
| 66 | polyamine biosynthetic process (GO:0006596) | 3.01791627 |
| 67 | polyol catabolic process (GO:0046174) | 3.00423370 |
| 68 | positive regulation of macrophage activation (GO:0043032) | 2.99831779 |
| 69 | mitotic sister chromatid cohesion (GO:0007064) | 2.98761193 |
| 70 | interferon-gamma secretion (GO:0072643) | 2.92974763 |
| 71 | carnitine transmembrane transport (GO:1902603) | 2.92229751 |
| 72 | monoubiquitinated protein deubiquitination (GO:0035520) | 2.91504735 |
| 73 | RNA localization (GO:0006403) | 2.90874796 |
| 74 | alditol metabolic process (GO:0019400) | 2.86353817 |
| 75 | UTP biosynthetic process (GO:0006228) | 2.84178064 |
| 76 | cilium organization (GO:0044782) | 2.74855501 |
| 77 | regulation of cilium assembly (GO:1902017) | 2.73464655 |
| 78 | intraciliary transport (GO:0042073) | 2.73218218 |
| 79 | synapsis (GO:0007129) | 2.71675079 |
| 80 | microtubule-based movement (GO:0007018) | 2.67944085 |
| 81 | cellular component assembly involved in morphogenesis (GO:0010927) | 2.67418512 |
| 82 | cilium assembly (GO:0042384) | 2.65892889 |
| 83 | mitochondrion degradation (GO:0000422) | 2.63546244 |
| 84 | meiotic cell cycle process (GO:1903046) | 2.63207341 |
| 85 | UTP metabolic process (GO:0046051) | 2.58200815 |
| 86 | peptidyl-glutamic acid modification (GO:0018200) | 2.46723560 |
| 87 | cilium morphogenesis (GO:0060271) | 2.46637575 |
| 88 | calcium ion import (GO:0070509) | 2.44114678 |
| 89 | positive regulation of glycolytic process (GO:0045821) | 2.42967996 |
| 90 | axoneme assembly (GO:0035082) | 2.41029283 |
| 91 | sperm motility (GO:0030317) | 14.7579596 |
| 92 | cell wall macromolecule metabolic process (GO:0044036) | 13.1274635 |
| 93 | cell wall macromolecule catabolic process (GO:0016998) | 13.1274635 |
| 94 | fusion of sperm to egg plasma membrane (GO:0007342) | 12.7566075 |
| 95 | acrosome reaction (GO:0007340) | 12.6704109 |
| 96 | acrosome assembly (GO:0001675) | 11.8163766 |
| 97 | sperm-egg recognition (GO:0035036) | 11.4196807 |
| 98 | binding of sperm to zona pellucida (GO:0007339) | 10.5079082 |
| 99 | multicellular organism reproduction (GO:0032504) | 10.3655157 |
| 100 | cell-cell recognition (GO:0009988) | 10.2064753 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 8.23602648 |
| 2 | EZH2_22144423_ChIP-Seq_EOC_Human | 4.50751000 |
| 3 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 3.66657554 |
| 4 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 3.29599368 |
| 5 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.94394772 |
| 6 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.92455407 |
| 7 | VDR_22108803_ChIP-Seq_LS180_Human | 2.58534561 |
| 8 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 2.53811595 |
| 9 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 2.48246667 |
| 10 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 2.16618502 |
| 11 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 2.07495191 |
| 12 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.04758293 |
| 13 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.04451074 |
| 14 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.04374384 |
| 15 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 2.01232428 |
| 16 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 1.86495187 |
| 17 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.74452543 |
| 18 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.73976429 |
| 19 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.70458261 |
| 20 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.63677289 |
| 21 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.62090436 |
| 22 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.60756563 |
| 23 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.59785627 |
| 24 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.54681651 |
| 25 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.49612673 |
| 26 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 1.47842473 |
| 27 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.47475737 |
| 28 | GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.47135845 |
| 29 | KDM2B_26808549_Chip-Seq_REH_Human | 1.46855225 |
| 30 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.45332775 |
| 31 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.44834725 |
| 32 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 1.44566015 |
| 33 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.43432056 |
| 34 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.42067887 |
| 35 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.40641688 |
| 36 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.40641688 |
| 37 | FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.33852645 |
| 38 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.32945596 |
| 39 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.32546874 |
| 40 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.29445330 |
| 41 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.28589549 |
| 42 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.27057708 |
| 43 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.27057708 |
| 44 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 1.26917431 |
| 45 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.26818619 |
| 46 | LUZP1_20508642_ChIP-Seq_ESCs_Mouse | 1.24905960 |
| 47 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.24216634 |
| 48 | GATA3_21867929_ChIP-Seq_TH1_Mouse | 1.22200611 |
| 49 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.21468548 |
| 50 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.20818311 |
| 51 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.20404955 |
| 52 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 1.19469097 |
| 53 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.19267390 |
| 54 | CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.18072150 |
| 55 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.17590604 |
| 56 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.14974505 |
| 57 | PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 1.12774968 |
| 58 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 1.10638667 |
| 59 | MYC_27129775_Chip-Seq_CORNEA_Mouse | 1.10469001 |
| 60 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.10078324 |
| 61 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.08776626 |
| 62 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.08434500 |
| 63 | RCOR3_21632747_ChIP-Seq_MESCs_Mouse | 1.08348544 |
| 64 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.08266543 |
| 65 | SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.08251695 |
| 66 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.07842690 |
| 67 | CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.07676070 |
| 68 | SPI1_26923725_Chip-Seq_HPCs_Mouse | 1.06991542 |
| 69 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.06566664 |
| 70 | JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse | 1.05822451 |
| 71 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 1.05301176 |
| 72 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.03748202 |
| 73 | PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 1.03739487 |
| 74 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.03113623 |
| 75 | RXRA_24833708_ChIP-Seq_LIVER_Mouse | 1.01612851 |
| 76 | GATA1_19941827_ChIP-Seq_MEL86_Mouse | 1.01026834 |
| 77 | OCT4_18555785_Chip-Seq_ESCs_Mouse | 1.00374095 |
| 78 | ESET_19884257_ChIP-Seq_ESCs_Mouse | 1.00351812 |
| 79 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 0.99397001 |
| 80 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 0.99183792 |
| 81 | P53_22387025_ChIP-Seq_ESCs_Mouse | 0.99082090 |
| 82 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 0.97180432 |
| 83 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 0.97092241 |
| 84 | SOX9_26525672_Chip-Seq_HEART_Mouse | 0.96930323 |
| 85 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 0.96238882 |
| 86 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 0.96151856 |
| 87 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 0.95206022 |
| 88 | FUS_26573619_Chip-Seq_HEK293_Human | 0.93718668 |
| 89 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 0.93285238 |
| 90 | P300_18555785_Chip-Seq_ESCs_Mouse | 0.93109217 |
| 91 | NFYB_21822215_ChIP-Seq_K562_Human | 0.92550639 |
| 92 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 0.92492320 |
| 93 | KLF4_18555785_Chip-Seq_ESCs_Mouse | 0.92350228 |
| 94 | * SOX11_22085726_ChIP-Seq_ESNs_Mouse | 0.92027391 |
| 95 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 0.91913036 |
| 96 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.91248476 |
| 97 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 0.90978487 |
| 98 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 0.89134386 |
| 99 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 0.89026802 |
| 100 | STAT3_18555785_ChIP-Seq_MESCs_Mouse | 0.88903022 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 6.04295846 |
| 2 | MP0001929_abnormal_gametogenesis | 5.45911293 |
| 3 | MP0008877_abnormal_DNA_methylation | 3.79850137 |
| 4 | MP0002161_abnormal_fertility/fecundity | 3.30016899 |
| 5 | MP0002210_abnormal_sex_determination | 3.19436471 |
| 6 | MP0005670_abnormal_white_adipose | 2.86494776 |
| 7 | MP0001145_abnormal_male_reproductive | 2.70869747 |
| 8 | MP0000653_abnormal_sex_gland | 2.32783028 |
| 9 | MP0005410_abnormal_fertilization | 16.7272485 |
| 10 | MP0002653_abnormal_ependyma_morphology | 1.62576318 |
| 11 | MP0003646_muscle_fatigue | 1.53320086 |
| 12 | MP0002160_abnormal_reproductive_system | 1.46174905 |
| 13 | MP0004233_abnormal_muscle_weight | 1.31575617 |
| 14 | MP0005623_abnormal_meninges_morphology | 1.14171152 |
| 15 | MP0002282_abnormal_trachea_morphology | 1.12189788 |
| 16 | MP0001765_abnormal_ion_homeostasis | 1.12077949 |
| 17 | MP0009046_muscle_twitch | 1.04993652 |
| 18 | MP0002234_abnormal_pharynx_morphology | 0.99259189 |
| 19 | MP0001984_abnormal_olfaction | 0.89799360 |
| 20 | MP0005647_abnormal_sex_gland | 0.85743593 |
| 21 | MP0003329_amyloid_beta_deposits | 0.81218868 |
| 22 | MP0002736_abnormal_nociception_after | 0.71651716 |
| 23 | MP0005389_reproductive_system_phenotype | 0.71591224 |
| 24 | MP0000569_abnormal_digit_pigmentation | 0.70172080 |
| 25 | MP0003115_abnormal_respiratory_system | 0.65569733 |
| 26 | MP0003879_abnormal_hair_cell | 0.62777924 |
| 27 | MP0004270_analgesia | 0.61105475 |
| 28 | MP0004742_abnormal_vestibular_system | 0.60737880 |
| 29 | MP0008058_abnormal_DNA_repair | 0.60584155 |
| 30 | MP0003950_abnormal_plasma_membrane | 0.60303463 |
| 31 | MP0005636_abnormal_mineral_homeostasis | 0.59203852 |
| 32 | MP0001661_extended_life_span | 0.57291517 |
| 33 | MP0005666_abnormal_adipose_tissue | 0.56546392 |
| 34 | MP0003011_delayed_dark_adaptation | 0.56074546 |
| 35 | MP0008995_early_reproductive_senescence | 0.55751972 |
| 36 | MP0005551_abnormal_eye_electrophysiolog | 0.54195059 |
| 37 | MP0003787_abnormal_imprinting | 0.52785465 |
| 38 | MP0005253_abnormal_eye_physiology | 0.51874856 |
| 39 | MP0003878_abnormal_ear_physiology | 0.51634694 |
| 40 | MP0005377_hearing/vestibular/ear_phenot | 0.51634694 |
| 41 | MP0002102_abnormal_ear_morphology | 0.51243932 |
| 42 | MP0001968_abnormal_touch/_nociception | 0.49877881 |
| 43 | MP0001324_abnormal_eye_pigmentation | 0.46646643 |
| 44 | MP0002272_abnormal_nervous_system | 0.46409048 |
| 45 | MP0004036_abnormal_muscle_relaxation | 0.42016410 |
| 46 | MP0001764_abnormal_homeostasis | 0.39588409 |
| 47 | MP0003699_abnormal_female_reproductive | 0.39342024 |
| 48 | MP0005423_abnormal_somatic_nervous | 0.39259250 |
| 49 | MP0000604_amyloidosis | 0.38991716 |
| 50 | MP0000920_abnormal_myelination | 0.38274482 |
| 51 | MP0004811_abnormal_neuron_physiology | 0.37830734 |
| 52 | MP0001293_anophthalmia | 0.35185140 |
| 53 | MP0006036_abnormal_mitochondrial_physio | 0.34846923 |
| 54 | MP0003635_abnormal_synaptic_transmissio | 0.34715122 |
| 55 | MP0004133_heterotaxia | 0.34280159 |
| 56 | MP0002572_abnormal_emotion/affect_behav | 0.33823607 |
| 57 | MP0002229_neurodegeneration | 0.33704509 |
| 58 | MP0002928_abnormal_bile_duct | 0.33646090 |
| 59 | MP0002269_muscular_atrophy | 0.32989610 |
| 60 | MP0000534_abnormal_ureter_morphology | 0.31659741 |
| 61 | MP0002139_abnormal_hepatobiliary_system | 0.31524903 |
| 62 | MP0005391_vision/eye_phenotype | 0.30959025 |
| 63 | MP0002152_abnormal_brain_morphology | 0.30579876 |
| 64 | MP0003633_abnormal_nervous_system | 0.30202916 |
| 65 | MP0008569_lethality_at_weaning | 0.29270225 |
| 66 | MP0002169_no_abnormal_phenotype | 0.28869706 |
| 67 | MP0002873_normal_phenotype | 0.28807977 |
| 68 | MP0003631_nervous_system_phenotype | 0.28643252 |
| 69 | MP0002063_abnormal_learning/memory/cond | 0.28108999 |
| 70 | MP0009745_abnormal_behavioral_response | 0.27717665 |
| 71 | MP0006072_abnormal_retinal_apoptosis | 0.27602377 |
| 72 | MP0000358_abnormal_cell_content/ | 0.27554947 |
| 73 | MP0002971_abnormal_brown_adipose | 0.27248446 |
| 74 | MP0009115_abnormal_fat_cell | 0.26675641 |
| 75 | MP0009278_abnormal_bone_marrow | 0.26613834 |
| 76 | MP0001486_abnormal_startle_reflex | 0.26571633 |
| 77 | MP0000751_myopathy | 0.26505283 |
| 78 | MP0008057_abnormal_DNA_replication | 0.25875051 |
| 79 | MP0003861_abnormal_nervous_system | 0.25785250 |
| 80 | MP0001440_abnormal_grooming_behavior | 0.24157231 |
| 81 | MP0005397_hematopoietic_system_phenotyp | 0.23953285 |
| 82 | MP0001545_abnormal_hematopoietic_system | 0.23953285 |
| 83 | MP0001529_abnormal_vocalization | 0.23613799 |
| 84 | MP0002295_abnormal_pulmonary_circulatio | 0.23558466 |
| 85 | MP0004145_abnormal_muscle_electrophysio | 0.23141282 |
| 86 | MP0005451_abnormal_body_composition | 0.21623066 |
| 87 | MP0003942_abnormal_urinary_system | 0.21223008 |
| 88 | MP0003632_abnormal_nervous_system | 0.20982921 |
| 89 | MP0001986_abnormal_taste_sensitivity | 0.20978696 |
| 90 | MP0001727_abnormal_embryo_implantation | 0.20958579 |
| 91 | MP0001963_abnormal_hearing_physiology | 0.20792100 |
| 92 | MP0004859_abnormal_synaptic_plasticity | 0.20717481 |
| 93 | MP0006035_abnormal_mitochondrial_morpho | 0.20585102 |
| 94 | MP0002067_abnormal_sensory_capabilities | 0.20513099 |
| 95 | MP0002882_abnormal_neuron_morphology | 0.20395177 |
| 96 | MP0000015_abnormal_ear_pigmentation | 0.19900054 |
| 97 | MP0002752_abnormal_somatic_nervous | 0.19842247 |
| 98 | MP0002064_seizures | 0.19368423 |
| 99 | MP0005174_abnormal_tail_pigmentation | 0.19221602 |
| 100 | MP0005535_abnormal_body_temperature | 0.18889638 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal respiratory motile cilium morphology (HP:0005938) | 9.35691035 |
| 2 | Abnormal respiratory epithelium morphology (HP:0012253) | 9.35691035 |
| 3 | Abnormal respiratory motile cilium physiology (HP:0012261) | 9.33194850 |
| 4 | Abnormal ciliary motility (HP:0012262) | 7.43808213 |
| 5 | Rhinitis (HP:0012384) | 7.17666789 |
| 6 | Chronic bronchitis (HP:0004469) | 7.15927150 |
| 7 | Infertility (HP:0000789) | 7.09898815 |
| 8 | Nasal polyposis (HP:0100582) | 6.16278610 |
| 9 | Abnormality of the nasal mucosa (HP:0000433) | 5.04773531 |
| 10 | Male infertility (HP:0003251) | 4.99454565 |
| 11 | Bronchitis (HP:0012387) | 4.39802393 |
| 12 | Bronchiectasis (HP:0002110) | 4.24417764 |
| 13 | Nephronophthisis (HP:0000090) | 3.97160016 |
| 14 | Abnormal spermatogenesis (HP:0008669) | 3.70186316 |
| 15 | Recurrent sinusitis (HP:0011108) | 3.22907219 |
| 16 | Recurrent otitis media (HP:0000403) | 3.15011324 |
| 17 | Tubulointerstitial nephritis (HP:0001970) | 3.00768091 |
| 18 | Abnormality of the renal medulla (HP:0100957) | 2.96586884 |
| 19 | Abnormal gallbladder physiology (HP:0012438) | 2.60377689 |
| 20 | Cholecystitis (HP:0001082) | 2.60377689 |
| 21 | Impulsivity (HP:0100710) | 2.58735365 |
| 22 | Recurrent bronchitis (HP:0002837) | 2.55719222 |
| 23 | Tubular atrophy (HP:0000092) | 2.44655292 |
| 24 | Tubulointerstitial abnormality (HP:0001969) | 2.44147617 |
| 25 | Choroideremia (HP:0001139) | 2.41131370 |
| 26 | Abnormality of midbrain morphology (HP:0002418) | 2.36639683 |
| 27 | Molar tooth sign on MRI (HP:0002419) | 2.36639683 |
| 28 | Gonadotropin excess (HP:0000837) | 2.24404696 |
| 29 | Azoospermia (HP:0000027) | 2.23884779 |
| 30 | Dyschromatopsia (HP:0007641) | 2.21452394 |
| 31 | Medial flaring of the eyebrow (HP:0010747) | 2.15576848 |
| 32 | Spastic tetraparesis (HP:0001285) | 2.14202240 |
| 33 | Decreased central vision (HP:0007663) | 2.10512195 |
| 34 | Neurofibrillary tangles (HP:0002185) | 2.06316494 |
| 35 | Double outlet right ventricle (HP:0001719) | 2.00410183 |
| 36 | Congenital malformation of the right heart (HP:0011723) | 2.00410183 |
| 37 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 13.8089702 |
| 38 | Absent/shortened dynein arms (HP:0200106) | 13.8089702 |
| 39 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 12.7288608 |
| 40 | Tubulointerstitial fibrosis (HP:0005576) | 1.86978625 |
| 41 | Sensory axonal neuropathy (HP:0003390) | 1.82213504 |
| 42 | Hemorrhage of the eye (HP:0011885) | 1.80583937 |
| 43 | Stage 5 chronic kidney disease (HP:0003774) | 1.77142323 |
| 44 | Abnormal drinking behavior (HP:0030082) | 1.69928604 |
| 45 | Polydipsia (HP:0001959) | 1.69928604 |
| 46 | Postaxial foot polydactyly (HP:0001830) | 1.65652601 |
| 47 | Abnormality of renal excretion (HP:0011036) | 1.64524150 |
| 48 | Cerebral inclusion bodies (HP:0100314) | 1.63782614 |
| 49 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 1.62703199 |
| 50 | Bundle branch block (HP:0011710) | 1.61462034 |
| 51 | Congenital hepatic fibrosis (HP:0002612) | 1.60244429 |
| 52 | Abnormal biliary tract physiology (HP:0012439) | 1.57329723 |
| 53 | Bile duct proliferation (HP:0001408) | 1.57329723 |
| 54 | Peripheral hypomyelination (HP:0007182) | 1.54149694 |
| 55 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.53597116 |
| 56 | Heterotopia (HP:0002282) | 1.50836641 |
| 57 | Abnormality of permanent molar morphology (HP:0011071) | 1.44540302 |
| 58 | Abnormality of the dental root (HP:0006486) | 1.44540302 |
| 59 | Taurodontia (HP:0000679) | 1.44540302 |
| 60 | Abnormality of dentin (HP:0010299) | 1.44342773 |
| 61 | Exercise-induced myalgia (HP:0003738) | 1.43256199 |
| 62 | Hemiparesis (HP:0001269) | 1.41568617 |
| 63 | Asymmetric septal hypertrophy (HP:0001670) | 1.40861152 |
| 64 | Abnormal urine output (HP:0012590) | 1.40608096 |
| 65 | Oculomotor apraxia (HP:0000657) | 1.38690489 |
| 66 | Abnormality of the renal cortex (HP:0011035) | 1.38446555 |
| 67 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.37979539 |
| 68 | Short ribs (HP:0000773) | 1.36108208 |
| 69 | Bell-shaped thorax (HP:0001591) | 1.35462312 |
| 70 | Abnormality of the dental pulp (HP:0006479) | 1.34698049 |
| 71 | Fibular hypoplasia (HP:0003038) | 1.32785309 |
| 72 | Abnormality of molar morphology (HP:0011070) | 1.32217937 |
| 73 | Abnormality of molar (HP:0011077) | 1.32217937 |
| 74 | Hypercholesterolemia (HP:0003124) | 1.31965372 |
| 75 | Myoglobinuria (HP:0002913) | 1.31816510 |
| 76 | Facial cleft (HP:0002006) | 1.31201820 |
| 77 | Postaxial hand polydactyly (HP:0001162) | 1.30140138 |
| 78 | Renal dysplasia (HP:0000110) | 1.26292657 |
| 79 | Easy fatigability (HP:0003388) | 1.25997140 |
| 80 | Constricted visual fields (HP:0001133) | 1.23720152 |
| 81 | Deformed sella turcica (HP:0002681) | 1.23575696 |
| 82 | Abnormality of saccadic eye movements (HP:0000570) | 1.22639791 |
| 83 | Rhabdomyolysis (HP:0003201) | 1.22474498 |
| 84 | Fatigable weakness (HP:0003473) | 1.20842134 |
| 85 | Abnormality of the neuromuscular junction (HP:0003398) | 1.20842134 |
| 86 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 1.20366875 |
| 87 | Absent epiphyses (HP:0010577) | 1.19890297 |
| 88 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.19890297 |
| 89 | Optic neuritis (HP:0100653) | 1.19579087 |
| 90 | Retrobulbar optic neuritis (HP:0100654) | 1.19579087 |
| 91 | Attenuation of retinal blood vessels (HP:0007843) | 1.18778665 |
| 92 | Short femoral neck (HP:0100864) | 1.18203353 |
| 93 | Degeneration of the lateral corticospinal tracts (HP:0002314) | 1.17009871 |
| 94 | Atrophy/Degeneration involving the corticospinal tracts (HP:0007372) | 1.17009871 |
| 95 | Retinal dysplasia (HP:0007973) | 1.15574709 |
| 96 | Abnormal ventriculo-arterial connection (HP:0011563) | 1.14742447 |
| 97 | Transposition of the great arteries (HP:0001669) | 1.14742447 |
| 98 | Abnormal connection of the cardiac segments (HP:0011545) | 1.14742447 |
| 99 | Nephropathy (HP:0000112) | 1.14393050 |
| 100 | Progressive cerebellar ataxia (HP:0002073) | 1.13863650 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK4 | 7.79546735 |
| 2 | PDK3 | 7.79546735 |
| 3 | TESK1 | 6.52501129 |
| 4 | PRKD3 | 5.24342196 |
| 5 | PDK2 | 5.00140288 |
| 6 | ICK | 4.80517905 |
| 7 | STK39 | 2.61306571 |
| 8 | WNK4 | 2.24169717 |
| 9 | PTK2B | 2.12557134 |
| 10 | STK38 | 1.95848267 |
| 11 | PNCK | 1.89628540 |
| 12 | DYRK1B | 1.61953114 |
| 13 | NEK2 | 1.32453912 |
| 14 | PDK1 | 1.26543889 |
| 15 | WNK1 | 1.02129876 |
| 16 | IRAK1 | 0.92114111 |
| 17 | PDPK1 | 0.88294572 |
| 18 | RIPK4 | 0.85728096 |
| 19 | MAPK15 | 0.84143709 |
| 20 | TYRO3 | 0.76322500 |
| 21 | CCNB1 | 0.71652735 |
| 22 | DYRK3 | 0.71626207 |
| 23 | PINK1 | 0.68673883 |
| 24 | IRAK2 | 0.63585453 |
| 25 | MUSK | 0.62936524 |
| 26 | STK3 | 0.60624399 |
| 27 | MAP2K6 | 0.56671865 |
| 28 | PASK | 0.55664121 |
| 29 | NTRK2 | 0.55304339 |
| 30 | TESK2 | 0.55263573 |
| 31 | STK38L | 0.54319961 |
| 32 | TTK | 0.51068058 |
| 33 | LMTK2 | 0.49620321 |
| 34 | CHEK2 | 0.48818771 |
| 35 | EEF2K | 0.42566912 |
| 36 | PRKCG | 0.41911128 |
| 37 | PAK1 | 0.39995234 |
| 38 | MARK2 | 0.39100909 |
| 39 | MAPKAPK5 | 0.38473802 |
| 40 | CAMK1G | 0.35688769 |
| 41 | CHEK1 | 0.35435439 |
| 42 | BRSK1 | 0.33460238 |
| 43 | PAK2 | 0.33186839 |
| 44 | NEK6 | 0.30580157 |
| 45 | CDK15 | 0.29161943 |
| 46 | CLK1 | 0.28532589 |
| 47 | CDK18 | 0.25753173 |
| 48 | PRKCZ | 0.25618548 |
| 49 | CDK11A | 0.25406926 |
| 50 | CDK14 | 0.23489248 |
| 51 | PRKCQ | 0.21366641 |
| 52 | PAK4 | 0.21337085 |
| 53 | ATM | 0.21279640 |
| 54 | WEE1 | 0.20679423 |
| 55 | MAP3K10 | 0.20241296 |
| 56 | OXSR1 | 0.19790976 |
| 57 | MTOR | 0.17970524 |
| 58 | CASK | 0.17529794 |
| 59 | PKN1 | 0.16902612 |
| 60 | EPHB1 | 0.16626230 |
| 61 | CAMK2A | 0.16537068 |
| 62 | PRKAA1 | 0.16369989 |
| 63 | MAP3K4 | 0.15270066 |
| 64 | TNIK | 0.15120552 |
| 65 | YES1 | 0.13783745 |
| 66 | PRKG1 | 0.13533018 |
| 67 | CAMKK1 | 0.12867483 |
| 68 | ATR | 0.10101659 |
| 69 | CSNK1D | 0.10018104 |
| 70 | GSK3B | 0.09323188 |
| 71 | RPS6KB1 | 0.08370686 |
| 72 | MARK1 | 0.08134074 |
| 73 | BRAF | 0.07729916 |
| 74 | PRKG2 | 0.07392169 |
| 75 | STK11 | 0.06875102 |
| 76 | BRSK2 | 0.06854325 |
| 77 | CDC7 | 0.06423354 |
| 78 | PRKCB | 0.05966554 |
| 79 | MKNK2 | 0.05691704 |
| 80 | CSNK2A1 | 0.05664212 |
| 81 | PRKACG | 0.05580149 |
| 82 | EPHB2 | 0.04852072 |
| 83 | PRKCA | 0.04517640 |
| 84 | RPS6KA1 | 0.04359444 |
| 85 | PRKCD | 0.04280276 |
| 86 | CDK5 | 0.04150925 |
| 87 | CSNK2A2 | 0.04052758 |
| 88 | CSF1R | 0.03666525 |
| 89 | PRKACB | 0.03620666 |
| 90 | PRKACA | 0.02370429 |
| 91 | CDK1 | 0.01945147 |
| 92 | UHMK1 | 0.01933408 |
| 93 | RPS6KA3 | 0.01886434 |
| 94 | PLK1 | 0.01771297 |
| 95 | PAK6 | 0.01202165 |
| 96 | MAPK8 | 0.01167968 |
| 97 | CSK | 0.00959743 |
| 98 | CDK6 | 0.00950723 |
| 99 | PLK4 | 0.00334389 |
| 100 | GRK7 | 0.00071043 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 4.87082733 |
| 2 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 4.50818883 |
| 3 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 3.25937080 |
| 4 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 3.17407364 |
| 5 | Pyruvate metabolism_Homo sapiens_hsa00620 | 3.13995265 |
| 6 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 3.11648401 |
| 7 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 2.83647096 |
| 8 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 2.39454070 |
| 9 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 2.38509444 |
| 10 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.30628010 |
| 11 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 2.13548463 |
| 12 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 2.12277469 |
| 13 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.98204145 |
| 14 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.95122753 |
| 15 | Basal transcription factors_Homo sapiens_hsa03022 | 1.93576672 |
| 16 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.82117515 |
| 17 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.78791650 |
| 18 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.70462641 |
| 19 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.67356748 |
| 20 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.60645527 |
| 21 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.57844934 |
| 22 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.56931358 |
| 23 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.53026784 |
| 24 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.52095661 |
| 25 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.45853559 |
| 26 | Mineral absorption_Homo sapiens_hsa04978 | 1.44651431 |
| 27 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.42230831 |
| 28 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.40502894 |
| 29 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.36099007 |
| 30 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.31329275 |
| 31 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.28963006 |
| 32 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.28571029 |
| 33 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.26796115 |
| 34 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.18573847 |
| 35 | Huntingtons disease_Homo sapiens_hsa05016 | 1.15490142 |
| 36 | Carbon metabolism_Homo sapiens_hsa01200 | 1.13478917 |
| 37 | Renin secretion_Homo sapiens_hsa04924 | 1.12604867 |
| 38 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.07391140 |
| 39 | Insulin secretion_Homo sapiens_hsa04911 | 1.02105382 |
| 40 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.01320201 |
| 41 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.96741285 |
| 42 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.96737013 |
| 43 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.95318718 |
| 44 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.95023899 |
| 45 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.93777075 |
| 46 | Purine metabolism_Homo sapiens_hsa00230 | 0.93578697 |
| 47 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.87277021 |
| 48 | Long-term potentiation_Homo sapiens_hsa04720 | 0.86527691 |
| 49 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.86256587 |
| 50 | Bile secretion_Homo sapiens_hsa04976 | 0.82036651 |
| 51 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.80247956 |
| 52 | Salivary secretion_Homo sapiens_hsa04970 | 0.80017464 |
| 53 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.79283331 |
| 54 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.77879611 |
| 55 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.77420229 |
| 56 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.74733412 |
| 57 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.74583667 |
| 58 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.71158423 |
| 59 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.70069020 |
| 60 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.65774394 |
| 61 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.63091891 |
| 62 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.61058005 |
| 63 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.60437191 |
| 64 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.58119772 |
| 65 | Taste transduction_Homo sapiens_hsa04742 | 0.57801499 |
| 66 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.57150072 |
| 67 | Sulfur relay system_Homo sapiens_hsa04122 | 0.55547493 |
| 68 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.52084864 |
| 69 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.52047810 |
| 70 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.51645133 |
| 71 | Circadian entrainment_Homo sapiens_hsa04713 | 0.50755733 |
| 72 | RNA transport_Homo sapiens_hsa03013 | 0.49587887 |
| 73 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.46549623 |
| 74 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.44582384 |
| 75 | Metabolic pathways_Homo sapiens_hsa01100 | 0.44420743 |
| 76 | Endocytosis_Homo sapiens_hsa04144 | 0.43013473 |
| 77 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.42649104 |
| 78 | Legionellosis_Homo sapiens_hsa05134 | 0.42561076 |
| 79 | ABC transporters_Homo sapiens_hsa02010 | 0.40430598 |
| 80 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.40365393 |
| 81 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.39025351 |
| 82 | Cocaine addiction_Homo sapiens_hsa05030 | 0.38322657 |
| 83 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.37055172 |
| 84 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.35282312 |
| 85 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.34832459 |
| 86 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.33231669 |
| 87 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.31682385 |
| 88 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.29045192 |
| 89 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 0.28223341 |
| 90 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.23829838 |
| 91 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.23763906 |
| 92 | Alzheimers disease_Homo sapiens_hsa05010 | 0.23522008 |
| 93 | Alcoholism_Homo sapiens_hsa05034 | 0.21023217 |
| 94 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.20827121 |
| 95 | Nicotine addiction_Homo sapiens_hsa05033 | 0.18864269 |
| 96 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.18516909 |
| 97 | Salmonella infection_Homo sapiens_hsa05132 | 0.14933606 |
| 98 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.14637471 |
| 99 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.11921672 |
| 100 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.11248762 |

