

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | cilium or flagellum-dependent cell motility (GO:0001539) | 9.99534425 |
| 2 | plasma membrane fusion (GO:0045026) | 9.98132124 |
| 3 | spermatid development (GO:0007286) | 9.93091889 |
| 4 | motile cilium assembly (GO:0044458) | 9.62024518 |
| 5 | reproduction (GO:0000003) | 9.33830293 |
| 6 | regulation of cilium movement (GO:0003352) | 9.00914334 |
| 7 | cilium movement (GO:0003341) | 8.34174262 |
| 8 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 7.76517685 |
| 9 | piRNA metabolic process (GO:0034587) | 7.50950627 |
| 10 | single fertilization (GO:0007338) | 7.42911966 |
| 11 | sperm capacitation (GO:0048240) | 7.41916582 |
| 12 | negative regulation of inclusion body assembly (GO:0090084) | 7.29301796 |
| 13 | synaptonemal complex organization (GO:0070193) | 7.26083944 |
| 14 | male meiosis (GO:0007140) | 7.19053140 |
| 15 | synaptonemal complex assembly (GO:0007130) | 7.03084652 |
| 16 | spermatogenesis (GO:0007283) | 6.71380828 |
| 17 | male gamete generation (GO:0048232) | 6.68931881 |
| 18 | organic cation transport (GO:0015695) | 6.49623872 |
| 19 | microtubule depolymerization (GO:0007019) | 6.45411612 |
| 20 | fertilization (GO:0009566) | 6.33514420 |
| 21 | gamete generation (GO:0007276) | 6.14641028 |
| 22 | regulation of inclusion body assembly (GO:0090083) | 6.04592050 |
| 23 | calcium ion-dependent exocytosis (GO:0017156) | 5.57100489 |
| 24 | germ cell development (GO:0007281) | 5.53313659 |
| 25 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 5.40941365 |
| 26 | regulation of microtubule-based movement (GO:0060632) | 5.31915489 |
| 27 | ventricular system development (GO:0021591) | 5.30081476 |
| 28 | male meiosis I (GO:0007141) | 5.06426923 |
| 29 | spermatid nucleus differentiation (GO:0007289) | 5.02232498 |
| 30 | chromosome condensation (GO:0030261) | 4.95378113 |
| 31 | cell recognition (GO:0008037) | 4.94892587 |
| 32 | glycerol ether metabolic process (GO:0006662) | 4.89812462 |
| 33 | multicellular organismal reproductive process (GO:0048609) | 4.84743821 |
| 34 | chromosome organization involved in meiosis (GO:0070192) | 4.79321593 |
| 35 | microtubule severing (GO:0051013) | 4.76314857 |
| 36 | DNA methylation involved in gamete generation (GO:0043046) | 4.73357351 |
| 37 | DNA packaging (GO:0006323) | 4.71378286 |
| 38 | seminiferous tubule development (GO:0072520) | 4.65768953 |
| 39 | left/right pattern formation (GO:0060972) | 4.57178425 |
| 40 | ether metabolic process (GO:0018904) | 4.52803074 |
| 41 | sexual reproduction (GO:0019953) | 4.33346384 |
| 42 | meiotic nuclear division (GO:0007126) | 4.33178232 |
| 43 | single strand break repair (GO:0000012) | 4.15238056 |
| 44 | meiosis I (GO:0007127) | 4.04935319 |
| 45 | chaperone-mediated protein complex assembly (GO:0051131) | 4.03557569 |
| 46 | multicellular organismal development (GO:0007275) | 3.89691806 |
| 47 | genitalia morphogenesis (GO:0035112) | 3.69741651 |
| 48 | protein polyglutamylation (GO:0018095) | 3.63102269 |
| 49 | meiotic cell cycle (GO:0051321) | 3.59973470 |
| 50 | protein refolding (GO:0042026) | 3.46002890 |
| 51 | monoubiquitinated protein deubiquitination (GO:0035520) | 3.41905822 |
| 52 | protein K11-linked deubiquitination (GO:0035871) | 3.35185367 |
| 53 | protein localization to cilium (GO:0061512) | 3.33205011 |
| 54 | microtubule polymerization or depolymerization (GO:0031109) | 3.30795978 |
| 55 | regulation of spindle checkpoint (GO:0090231) | 3.29285134 |
| 56 | glycolytic process (GO:0006096) | 3.23177775 |
| 57 | sequestering of actin monomers (GO:0042989) | 3.18390653 |
| 58 | carnitine transport (GO:0015879) | 3.16896979 |
| 59 | amino-acid betaine transport (GO:0015838) | 3.16896979 |
| 60 | nucleus organization (GO:0006997) | 3.13473204 |
| 61 | mitotic sister chromatid cohesion (GO:0007064) | 3.06884257 |
| 62 | nucleoside diphosphate phosphorylation (GO:0006165) | 3.03118283 |
| 63 | carnitine transmembrane transport (GO:1902603) | 3.01381934 |
| 64 | polyol catabolic process (GO:0046174) | 3.00598666 |
| 65 | alditol metabolic process (GO:0019400) | 2.94262913 |
| 66 | interferon-gamma secretion (GO:0072643) | 2.91342711 |
| 67 | cilium organization (GO:0044782) | 2.88323157 |
| 68 | RNA localization (GO:0006403) | 2.87565686 |
| 69 | microtubule-based movement (GO:0007018) | 2.87529597 |
| 70 | meiotic cell cycle process (GO:1903046) | 2.84739832 |
| 71 | axoneme assembly (GO:0035082) | 2.77275310 |
| 72 | intraciliary transport (GO:0042073) | 2.77092887 |
| 73 | cilium assembly (GO:0042384) | 2.76222436 |
| 74 | negative regulation of organelle assembly (GO:1902116) | 2.76117974 |
| 75 | synapsis (GO:0007129) | 2.75342189 |
| 76 | gene silencing by RNA (GO:0031047) | 2.72350804 |
| 77 | RNA destabilization (GO:0050779) | 2.71512225 |
| 78 | positive regulation of macrophage activation (GO:0043032) | 2.70305554 |
| 79 | GTP biosynthetic process (GO:0006183) | 2.70032737 |
| 80 | cellular component assembly involved in morphogenesis (GO:0010927) | 2.68353418 |
| 81 | cilium morphogenesis (GO:0060271) | 2.67334510 |
| 82 | regulation of cilium assembly (GO:1902017) | 2.66855737 |
| 83 | polyamine biosynthetic process (GO:0006596) | 2.66823437 |
| 84 | lactate metabolic process (GO:0006089) | 2.65053869 |
| 85 | peptidyl-glutamic acid modification (GO:0018200) | 2.58860021 |
| 86 | chromatin silencing (GO:0006342) | 2.57040069 |
| 87 | gene silencing (GO:0016458) | 2.47347542 |
| 88 | glycerol metabolic process (GO:0006071) | 2.43860131 |
| 89 | sperm motility (GO:0030317) | 14.2916985 |
| 90 | fusion of sperm to egg plasma membrane (GO:0007342) | 13.1017372 |
| 91 | acrosome reaction (GO:0007340) | 12.2734246 |
| 92 | cell wall macromolecule catabolic process (GO:0016998) | 12.2360278 |
| 93 | cell wall macromolecule metabolic process (GO:0044036) | 12.2360278 |
| 94 | sperm-egg recognition (GO:0035036) | 11.4383671 |
| 95 | acrosome assembly (GO:0001675) | 11.0041887 |
| 96 | multicellular organism reproduction (GO:0032504) | 10.7682569 |
| 97 | binding of sperm to zona pellucida (GO:0007339) | 10.4822279 |
| 98 | epithelial cilium movement (GO:0003351) | 10.2558197 |
| 99 | cell-cell recognition (GO:0009988) | 10.2399844 |
| 100 | axonemal dynein complex assembly (GO:0070286) | 10.2207922 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 9.69245077 |
| 2 | EZH2_22144423_ChIP-Seq_EOC_Human | 4.51415162 |
| 3 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 3.94749667 |
| 4 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 3.20868560 |
| 5 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 2.80301580 |
| 6 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.75800141 |
| 7 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.69372249 |
| 8 | VDR_22108803_ChIP-Seq_LS180_Human | 2.50797466 |
| 9 | * CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 2.27573760 |
| 10 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 2.22465102 |
| 11 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 2.17347208 |
| 12 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 2.04917654 |
| 13 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.92607805 |
| 14 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.91480466 |
| 15 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.78104217 |
| 16 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.75223521 |
| 17 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.71866217 |
| 18 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.71325337 |
| 19 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 1.70458577 |
| 20 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.66292897 |
| 21 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.64895328 |
| 22 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.61215945 |
| 23 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.60819222 |
| 24 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.55421168 |
| 25 | GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.52331233 |
| 26 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 1.49501623 |
| 27 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.47044710 |
| 28 | KDM2B_26808549_Chip-Seq_REH_Human | 1.43115541 |
| 29 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.42000395 |
| 30 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.40633732 |
| 31 | FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.39573922 |
| 32 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 1.36663389 |
| 33 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.35615322 |
| 34 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.33476480 |
| 35 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.32842754 |
| 36 | LUZP1_20508642_ChIP-Seq_ESCs_Mouse | 1.31121482 |
| 37 | * CBP_20019798_ChIP-Seq_JUKART_Human | 1.29494266 |
| 38 | * IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.29494266 |
| 39 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 1.29149679 |
| 40 | GATA3_21867929_ChIP-Seq_TH1_Mouse | 1.25409111 |
| 41 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.24194250 |
| 42 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.23563719 |
| 43 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.23078459 |
| 44 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 1.21372921 |
| 45 | PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 1.20554092 |
| 46 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.18013125 |
| 47 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.17756546 |
| 48 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.17470773 |
| 49 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.17331924 |
| 50 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.17331924 |
| 51 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.16721117 |
| 52 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.16423102 |
| 53 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.14056979 |
| 54 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 1.13947328 |
| 55 | SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.12731888 |
| 56 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.10086444 |
| 57 | SPI1_26923725_Chip-Seq_HPCs_Mouse | 1.09964086 |
| 58 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.09719228 |
| 59 | * CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.08959192 |
| 60 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.08805298 |
| 61 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.08560455 |
| 62 | * CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.07619241 |
| 63 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.07542320 |
| 64 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.04962522 |
| 65 | RXRA_24833708_ChIP-Seq_LIVER_Mouse | 1.04766963 |
| 66 | MYC_27129775_Chip-Seq_CORNEA_Mouse | 1.04673351 |
| 67 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.04037739 |
| 68 | PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 1.03515047 |
| 69 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.03231764 |
| 70 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.02298041 |
| 71 | ESET_19884257_ChIP-Seq_ESCs_Mouse | 1.01430970 |
| 72 | RCOR3_21632747_ChIP-Seq_MESCs_Mouse | 1.01233596 |
| 73 | GATA1_19941827_ChIP-Seq_MEL86_Mouse | 0.99688858 |
| 74 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 0.98932367 |
| 75 | * CTBP2_25329375_ChIP-Seq_LNCAP_Human | 0.98496248 |
| 76 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 0.98117671 |
| 77 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 0.97873189 |
| 78 | RARA_24833708_ChIP-Seq_LIVER_Mouse | 0.97542778 |
| 79 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 0.97233961 |
| 80 | CTCF_20526341_ChIP-Seq_ESCs_Human | 0.96451701 |
| 81 | JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse | 0.95624660 |
| 82 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 0.95316811 |
| 83 | SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 0.94837767 |
| 84 | NFYB_21822215_ChIP-Seq_K562_Human | 0.92701472 |
| 85 | OCT4_18555785_Chip-Seq_ESCs_Mouse | 0.92559503 |
| 86 | SOX11_22085726_ChIP-Seq_ESNs_Mouse | 0.92472084 |
| 87 | PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse | 0.92185045 |
| 88 | LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse | 0.90715496 |
| 89 | P53_22387025_ChIP-Seq_ESCs_Mouse | 0.90457761 |
| 90 | FLI1_21867929_ChIP-Seq_CD8_Mouse | 0.89763782 |
| 91 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 0.89377265 |
| 92 | NANOG_20526341_ChIP-Seq_ESCs_Human | 0.88981441 |
| 93 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 0.88728352 |
| 94 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 0.88672411 |
| 95 | * SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 0.88489286 |
| 96 | SOX2_21211035_ChIP-Seq_LN229_Human | 0.88285258 |
| 97 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 0.87292864 |
| 98 | TBL1_22424771_ChIP-Seq_293T_Human | 0.86419647 |
| 99 | SOX9_26525672_Chip-Seq_HEART_Mouse | 0.86118874 |
| 100 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 0.86063617 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 6.11649164 |
| 2 | MP0001929_abnormal_gametogenesis | 5.54740810 |
| 3 | MP0008877_abnormal_DNA_methylation | 4.07871618 |
| 4 | MP0002210_abnormal_sex_determination | 3.41814910 |
| 5 | MP0002161_abnormal_fertility/fecundity | 3.34559831 |
| 6 | MP0001145_abnormal_male_reproductive | 2.89315740 |
| 7 | MP0005670_abnormal_white_adipose | 2.88143960 |
| 8 | MP0000653_abnormal_sex_gland | 2.49648066 |
| 9 | MP0002653_abnormal_ependyma_morphology | 2.39076842 |
| 10 | MP0005410_abnormal_fertilization | 16.5362401 |
| 11 | MP0002160_abnormal_reproductive_system | 1.61392018 |
| 12 | MP0005623_abnormal_meninges_morphology | 1.51513046 |
| 13 | MP0003646_muscle_fatigue | 1.48289958 |
| 14 | MP0004233_abnormal_muscle_weight | 1.34081739 |
| 15 | MP0002282_abnormal_trachea_morphology | 1.32414587 |
| 16 | MP0001765_abnormal_ion_homeostasis | 1.15277943 |
| 17 | MP0001984_abnormal_olfaction | 0.96598741 |
| 18 | MP0005647_abnormal_sex_gland | 0.88773690 |
| 19 | MP0008995_early_reproductive_senescence | 0.85296065 |
| 20 | MP0008058_abnormal_DNA_repair | 0.84779249 |
| 21 | MP0005389_reproductive_system_phenotype | 0.78898807 |
| 22 | MP0003115_abnormal_respiratory_system | 0.77609341 |
| 23 | MP0009046_muscle_twitch | 0.76169278 |
| 24 | MP0003878_abnormal_ear_physiology | 0.73156900 |
| 25 | MP0005377_hearing/vestibular/ear_phenot | 0.73156900 |
| 26 | MP0002234_abnormal_pharynx_morphology | 0.72611230 |
| 27 | MP0003011_delayed_dark_adaptation | 0.68026795 |
| 28 | MP0005636_abnormal_mineral_homeostasis | 0.63208535 |
| 29 | MP0005666_abnormal_adipose_tissue | 0.60107458 |
| 30 | MP0003329_amyloid_beta_deposits | 0.56726952 |
| 31 | MP0000569_abnormal_digit_pigmentation | 0.56013549 |
| 32 | MP0000358_abnormal_cell_content/ | 0.55310775 |
| 33 | MP0010094_abnormal_chromosome_stability | 0.51752166 |
| 34 | MP0001324_abnormal_eye_pigmentation | 0.51720056 |
| 35 | MP0001764_abnormal_homeostasis | 0.48842644 |
| 36 | MP0001293_anophthalmia | 0.48288826 |
| 37 | MP0004036_abnormal_muscle_relaxation | 0.47476781 |
| 38 | MP0009278_abnormal_bone_marrow | 0.47311645 |
| 39 | MP0003699_abnormal_female_reproductive | 0.45717137 |
| 40 | MP0005397_hematopoietic_system_phenotyp | 0.45124972 |
| 41 | MP0001545_abnormal_hematopoietic_system | 0.45124972 |
| 42 | MP0002269_muscular_atrophy | 0.45117424 |
| 43 | MP0003950_abnormal_plasma_membrane | 0.42069376 |
| 44 | MP0002928_abnormal_bile_duct | 0.40525000 |
| 45 | MP0002736_abnormal_nociception_after | 0.39481989 |
| 46 | MP0000534_abnormal_ureter_morphology | 0.39465420 |
| 47 | MP0005253_abnormal_eye_physiology | 0.38641952 |
| 48 | MP0009115_abnormal_fat_cell | 0.37970133 |
| 49 | MP0005551_abnormal_eye_electrophysiolog | 0.37214967 |
| 50 | MP0006036_abnormal_mitochondrial_physio | 0.36225795 |
| 51 | MP0003111_abnormal_nucleus_morphology | 0.35428680 |
| 52 | MP0002971_abnormal_brown_adipose | 0.33241973 |
| 53 | MP0005391_vision/eye_phenotype | 0.31507897 |
| 54 | MP0003942_abnormal_urinary_system | 0.30796303 |
| 55 | MP0000604_amyloidosis | 0.28572476 |
| 56 | MP0004811_abnormal_neuron_physiology | 0.28489229 |
| 57 | MP0003879_abnormal_hair_cell | 0.28467038 |
| 58 | MP0004133_heterotaxia | 0.27472918 |
| 59 | MP0003633_abnormal_nervous_system | 0.26941131 |
| 60 | MP0001119_abnormal_female_reproductive | 0.26728608 |
| 61 | MP0003786_premature_aging | 0.26529048 |
| 62 | MP0001730_embryonic_growth_arrest | 0.25500365 |
| 63 | MP0003861_abnormal_nervous_system | 0.24497505 |
| 64 | MP0008961_abnormal_basal_metabolism | 0.23708897 |
| 65 | MP0002295_abnormal_pulmonary_circulatio | 0.23347118 |
| 66 | MP0006035_abnormal_mitochondrial_morpho | 0.23341096 |
| 67 | MP0004019_abnormal_vitamin_homeostasis | 0.22768587 |
| 68 | MP0004742_abnormal_vestibular_system | 0.22716245 |
| 69 | MP0002152_abnormal_brain_morphology | 0.22367902 |
| 70 | MP0003948_abnormal_gas_homeostasis | 0.22273303 |
| 71 | MP0002102_abnormal_ear_morphology | 0.21856135 |
| 72 | MP0003631_nervous_system_phenotype | 0.21334026 |
| 73 | MP0001727_abnormal_embryo_implantation | 0.20963194 |
| 74 | MP0008007_abnormal_cellular_replicative | 0.20564203 |
| 75 | MP0001849_ear_inflammation | 0.20493966 |
| 76 | MP0001968_abnormal_touch/_nociception | 0.20282732 |
| 77 | MP0002139_abnormal_hepatobiliary_system | 0.19951634 |
| 78 | MP0005423_abnormal_somatic_nervous | 0.19703634 |
| 79 | MP0000751_myopathy | 0.19552933 |
| 80 | MP0005375_adipose_tissue_phenotype | 0.18969617 |
| 81 | MP0002092_abnormal_eye_morphology | 0.18888091 |
| 82 | MP0008057_abnormal_DNA_replication | 0.18650512 |
| 83 | MP0001986_abnormal_taste_sensitivity | 0.17879760 |
| 84 | MP0004043_abnormal_pH_regulation | 0.16807816 |
| 85 | * MP0002169_no_abnormal_phenotype | 0.16798548 |
| 86 | * MP0002873_normal_phenotype | 0.16582128 |
| 87 | MP0004270_analgesia | 0.16573418 |
| 88 | MP0004808_abnormal_hematopoietic_stem | 0.16156944 |
| 89 | MP0000313_abnormal_cell_death | 0.15948533 |
| 90 | MP0001661_extended_life_span | 0.15883113 |
| 91 | MP0010307_abnormal_tumor_latency | 0.15384808 |
| 92 | MP0008569_lethality_at_weaning | 0.15144642 |
| 93 | MP0002229_neurodegeneration | 0.14924280 |
| 94 | MP0004145_abnormal_muscle_electrophysio | 0.14814795 |
| 95 | MP0003959_abnormal_lean_body | 0.14086579 |
| 96 | MP0002405_respiratory_system_inflammati | 0.13653645 |
| 97 | MP0003045_fibrosis | 0.13184932 |
| 98 | MP0002084_abnormal_developmental_patter | 0.13152017 |
| 99 | MP0002693_abnormal_pancreas_physiology | 0.12014962 |
| 100 | * MP0000001_mammalian_phenotype | 0.11984150 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal respiratory motile cilium morphology (HP:0005938) | 9.32837354 |
| 2 | Abnormal respiratory epithelium morphology (HP:0012253) | 9.32837354 |
| 3 | Abnormal respiratory motile cilium physiology (HP:0012261) | 9.22533081 |
| 4 | Rhinitis (HP:0012384) | 7.49700961 |
| 5 | Chronic bronchitis (HP:0004469) | 7.24917101 |
| 6 | Abnormal ciliary motility (HP:0012262) | 7.24217288 |
| 7 | Infertility (HP:0000789) | 7.02283449 |
| 8 | Nasal polyposis (HP:0100582) | 6.43609697 |
| 9 | Abnormality of the nasal mucosa (HP:0000433) | 5.29392155 |
| 10 | Male infertility (HP:0003251) | 4.85542050 |
| 11 | Bronchitis (HP:0012387) | 4.63938866 |
| 12 | Bronchiectasis (HP:0002110) | 4.47002055 |
| 13 | Nephronophthisis (HP:0000090) | 4.26347427 |
| 14 | Abnormal spermatogenesis (HP:0008669) | 3.60122873 |
| 15 | Recurrent otitis media (HP:0000403) | 3.34752613 |
| 16 | Recurrent sinusitis (HP:0011108) | 3.24844805 |
| 17 | Abnormality of the renal medulla (HP:0100957) | 3.21839057 |
| 18 | Tubulointerstitial nephritis (HP:0001970) | 2.93348842 |
| 19 | Recurrent bronchitis (HP:0002837) | 2.89953377 |
| 20 | Impulsivity (HP:0100710) | 2.79667917 |
| 21 | Tubular atrophy (HP:0000092) | 2.61490947 |
| 22 | Gonadotropin excess (HP:0000837) | 2.57747493 |
| 23 | Abnormality of midbrain morphology (HP:0002418) | 2.52462722 |
| 24 | Molar tooth sign on MRI (HP:0002419) | 2.52462722 |
| 25 | Abnormal gallbladder physiology (HP:0012438) | 2.48599971 |
| 26 | Cholecystitis (HP:0001082) | 2.48599971 |
| 27 | Tubulointerstitial abnormality (HP:0001969) | 2.43481319 |
| 28 | Medial flaring of the eyebrow (HP:0010747) | 2.26240251 |
| 29 | Azoospermia (HP:0000027) | 2.19969764 |
| 30 | Dyschromatopsia (HP:0007641) | 2.12004321 |
| 31 | Spastic tetraparesis (HP:0001285) | 2.09932263 |
| 32 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 13.5591459 |
| 33 | Absent/shortened dynein arms (HP:0200106) | 13.5591459 |
| 34 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 12.9903988 |
| 35 | Choroideremia (HP:0001139) | 1.93506570 |
| 36 | Tubulointerstitial fibrosis (HP:0005576) | 1.90928058 |
| 37 | Heterotopia (HP:0002282) | 1.83998922 |
| 38 | Postaxial foot polydactyly (HP:0001830) | 1.83323422 |
| 39 | Decreased central vision (HP:0007663) | 1.83071420 |
| 40 | Stage 5 chronic kidney disease (HP:0003774) | 1.80930878 |
| 41 | Abnormal drinking behavior (HP:0030082) | 1.75588221 |
| 42 | Polydipsia (HP:0001959) | 1.75588221 |
| 43 | Abnormal biliary tract physiology (HP:0012439) | 1.70612196 |
| 44 | Bile duct proliferation (HP:0001408) | 1.70612196 |
| 45 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.70117669 |
| 46 | Bell-shaped thorax (HP:0001591) | 1.68367715 |
| 47 | Abnormality of the lower motor neuron (HP:0002366) | 1.68037533 |
| 48 | Hemorrhage of the eye (HP:0011885) | 1.67020217 |
| 49 | Congenital hepatic fibrosis (HP:0002612) | 1.66928727 |
| 50 | Abnormality of the renal cortex (HP:0011035) | 1.65397531 |
| 51 | Short ribs (HP:0000773) | 1.61686663 |
| 52 | Abnormality of renal excretion (HP:0011036) | 1.60818347 |
| 53 | Oculomotor apraxia (HP:0000657) | 1.56532285 |
| 54 | Neurofibrillary tangles (HP:0002185) | 1.56075835 |
| 55 | Asymmetric septal hypertrophy (HP:0001670) | 1.54841568 |
| 56 | Abnormality of the dental root (HP:0006486) | 1.51333527 |
| 57 | Taurodontia (HP:0000679) | 1.51333527 |
| 58 | Abnormality of permanent molar morphology (HP:0011071) | 1.51333527 |
| 59 | Fibular hypoplasia (HP:0003038) | 1.49783992 |
| 60 | Abnormality of dentin (HP:0010299) | 1.49733539 |
| 61 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 1.48229071 |
| 62 | Amyotrophic lateral sclerosis (HP:0007354) | 1.44012961 |
| 63 | Renal dysplasia (HP:0000110) | 1.43949930 |
| 64 | Bundle branch block (HP:0011710) | 1.40855927 |
| 65 | Abnormality of the dental pulp (HP:0006479) | 1.39961516 |
| 66 | Abnormality of molar morphology (HP:0011070) | 1.39821459 |
| 67 | Abnormality of molar (HP:0011077) | 1.39821459 |
| 68 | Postaxial hand polydactyly (HP:0001162) | 1.39787059 |
| 69 | Deformed sella turcica (HP:0002681) | 1.38742831 |
| 70 | Double outlet right ventricle (HP:0001719) | 1.38348789 |
| 71 | Congenital malformation of the right heart (HP:0011723) | 1.38348789 |
| 72 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.37092550 |
| 73 | Hemiparesis (HP:0001269) | 1.34107428 |
| 74 | Abnormal urine output (HP:0012590) | 1.33825052 |
| 75 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.33784399 |
| 76 | Absent epiphyses (HP:0010577) | 1.33784399 |
| 77 | Cystic liver disease (HP:0006706) | 1.32297299 |
| 78 | Absent frontal sinuses (HP:0002688) | 1.32283716 |
| 79 | Chronic sinusitis (HP:0011109) | 1.31923075 |
| 80 | Facial cleft (HP:0002006) | 1.31356012 |
| 81 | Cerebral inclusion bodies (HP:0100314) | 1.27530367 |
| 82 | Broad distal phalanx of finger (HP:0009836) | 1.25175140 |
| 83 | J-shaped sella turcica (HP:0002680) | 1.24661970 |
| 84 | Easy fatigability (HP:0003388) | 1.23942271 |
| 85 | Impaired proprioception (HP:0010831) | 1.22918066 |
| 86 | Constricted visual fields (HP:0001133) | 1.22904954 |
| 87 | Exercise-induced myalgia (HP:0003738) | 1.22179133 |
| 88 | Loss of speech (HP:0002371) | 1.21811079 |
| 89 | Short thorax (HP:0010306) | 1.21024048 |
| 90 | Nephropathy (HP:0000112) | 1.20666226 |
| 91 | Cerebellar dysplasia (HP:0007033) | 1.20569794 |
| 92 | Microglossia (HP:0000171) | 1.20448281 |
| 93 | Sensory axonal neuropathy (HP:0003390) | 1.20333694 |
| 94 | Hypercholesterolemia (HP:0003124) | 1.19703083 |
| 95 | Cone-shaped epiphyses of the phalanges of the hand (HP:0010230) | 1.19496857 |
| 96 | Truncal obesity (HP:0001956) | 1.16253474 |
| 97 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 1.15272956 |
| 98 | Short femoral neck (HP:0100864) | 1.14873362 |
| 99 | Supernumerary spleens (HP:0009799) | 1.14801813 |
| 100 | Myoglobinuria (HP:0002913) | 1.14729566 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK4 | 8.29219511 |
| 2 | PDK3 | 8.29219511 |
| 3 | TESK1 | 6.16751051 |
| 4 | PDK2 | 5.37322144 |
| 5 | PRKD3 | 5.24057838 |
| 6 | ICK | 4.45093012 |
| 7 | PTK2B | 2.20852645 |
| 8 | PNCK | 2.12571624 |
| 9 | WNK4 | 2.09485100 |
| 10 | STK39 | 1.99590612 |
| 11 | STK38 | 1.72093688 |
| 12 | DYRK1B | 1.59667845 |
| 13 | NEK2 | 1.57313567 |
| 14 | PDK1 | 1.12996906 |
| 15 | MAPK15 | 0.94679038 |
| 16 | DYRK3 | 0.88221659 |
| 17 | TYRO3 | 0.86545197 |
| 18 | WNK1 | 0.84938930 |
| 19 | IRAK1 | 0.72433457 |
| 20 | PASK | 0.71005032 |
| 21 | PDPK1 | 0.65991910 |
| 22 | CCNB1 | 0.65011062 |
| 23 | RIPK4 | 0.61969798 |
| 24 | STK3 | 0.61786823 |
| 25 | CAMK1G | 0.60138644 |
| 26 | EEF2K | 0.57474443 |
| 27 | TESK2 | 0.56308794 |
| 28 | MAP2K6 | 0.56112265 |
| 29 | TTK | 0.55392047 |
| 30 | PINK1 | 0.51437149 |
| 31 | CHEK2 | 0.51217561 |
| 32 | LMTK2 | 0.45705021 |
| 33 | IRAK2 | 0.40431206 |
| 34 | PAK1 | 0.40220860 |
| 35 | MUSK | 0.39262497 |
| 36 | CHEK1 | 0.38526512 |
| 37 | NTRK2 | 0.37811833 |
| 38 | PRKCG | 0.30902275 |
| 39 | PAK2 | 0.29973876 |
| 40 | STK38L | 0.29909644 |
| 41 | MTOR | 0.28302661 |
| 42 | ATM | 0.26791912 |
| 43 | MARK2 | 0.26088472 |
| 44 | MAP3K10 | 0.26052523 |
| 45 | WEE1 | 0.25498359 |
| 46 | MAPKAPK5 | 0.24509958 |
| 47 | ATR | 0.24163054 |
| 48 | PAK4 | 0.23643828 |
| 49 | CAMKK1 | 0.23255548 |
| 50 | CDC7 | 0.21775540 |
| 51 | NEK6 | 0.20181342 |
| 52 | PLK4 | 0.19969875 |
| 53 | PRKAA1 | 0.18668025 |
| 54 | PRKCZ | 0.15618330 |
| 55 | RPS6KB1 | 0.14502367 |
| 56 | CDK15 | 0.11882427 |
| 57 | PRKCQ | 0.11556621 |
| 58 | PLK1 | 0.11520878 |
| 59 | CDK18 | 0.09440191 |
| 60 | CDK11A | 0.08501193 |
| 61 | BRSK2 | 0.08023620 |
| 62 | RPS6KA1 | 0.06527518 |
| 63 | GSK3B | 0.06425268 |
| 64 | PRKG2 | 0.05621395 |
| 65 | CSNK2A1 | 0.05489503 |
| 66 | CDK14 | 0.05143729 |
| 67 | CSNK1D | 0.03960410 |
| 68 | CDK6 | 0.03892672 |
| 69 | BRSK1 | 0.03687694 |
| 70 | BMPR1B | 0.03433042 |
| 71 | STK11 | 0.02891150 |
| 72 | CDK2 | 0.02735383 |
| 73 | BRAF | 0.02678824 |
| 74 | PRKG1 | 0.02498010 |
| 75 | CDK1 | 0.02356998 |
| 76 | MARK3 | 0.02181425 |
| 77 | STK10 | 0.01872852 |
| 78 | CLK1 | 0.01599537 |
| 79 | CAMK2A | 0.01545234 |
| 80 | PRKACG | 0.01522276 |
| 81 | CSF1R | 0.01470845 |
| 82 | MAPK8 | 0.01268609 |
| 83 | WNK3 | 0.01208359 |
| 84 | CDK12 | 0.01140279 |
| 85 | PRKCB | 0.00896662 |
| 86 | PIM1 | 0.00721630 |
| 87 | PKN1 | 0.00642650 |
| 88 | CSNK2A2 | 0.00526610 |
| 89 | PDGFRB | -0.0323091 |
| 90 | ZAP70 | -0.0237662 |
| 91 | MAP3K5 | -0.0230460 |
| 92 | RPS6KA3 | -0.0203735 |
| 93 | CDK4 | -0.0147446 |
| 94 | PRKACB | -0.0136865 |
| 95 | EGFR | -0.0117387 |
| 96 | PRKCA | -0.0107472 |
| 97 | YES1 | -0.0102897 |
| 98 | EPHB1 | -0.0088768 |
| 99 | PRKCD | -0.0016034 |
| 100 | PAK6 | -0.0011013 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 4.57368854 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 4.50409258 |
| 3 | Pyruvate metabolism_Homo sapiens_hsa00620 | 3.46713695 |
| 4 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 3.37790076 |
| 5 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 3.08697381 |
| 6 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 2.99255925 |
| 7 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 2.74774717 |
| 8 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 2.59439873 |
| 9 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.55048926 |
| 10 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 2.45938130 |
| 11 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 2.44760981 |
| 12 | Basal transcription factors_Homo sapiens_hsa03022 | 2.15427232 |
| 13 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 2.09338138 |
| 14 | Selenocompound metabolism_Homo sapiens_hsa00450 | 2.03885620 |
| 15 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.98425290 |
| 16 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.89059399 |
| 17 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.84421980 |
| 18 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.81202691 |
| 19 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.72982072 |
| 20 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.71411088 |
| 21 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.67390584 |
| 22 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.67280735 |
| 23 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.52820951 |
| 24 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.49911577 |
| 25 | Mineral absorption_Homo sapiens_hsa04978 | 1.49747213 |
| 26 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.45953470 |
| 27 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.43044282 |
| 28 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.41760806 |
| 29 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.41595177 |
| 30 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.37857083 |
| 31 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.36424423 |
| 32 | Carbon metabolism_Homo sapiens_hsa01200 | 1.33432612 |
| 33 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.32945198 |
| 34 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.28372007 |
| 35 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.21552684 |
| 36 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.18187741 |
| 37 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.12803919 |
| 38 | Renin secretion_Homo sapiens_hsa04924 | 1.08573200 |
| 39 | Huntingtons disease_Homo sapiens_hsa05016 | 1.08247171 |
| 40 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.08177982 |
| 41 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 1.07703216 |
| 42 | Purine metabolism_Homo sapiens_hsa00230 | 0.98675361 |
| 43 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.96825124 |
| 44 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.91611749 |
| 45 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.90735896 |
| 46 | RNA transport_Homo sapiens_hsa03013 | 0.90488342 |
| 47 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.88962930 |
| 48 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.85489326 |
| 49 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.80438489 |
| 50 | Insulin secretion_Homo sapiens_hsa04911 | 0.79627110 |
| 51 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.79545321 |
| 52 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.76424934 |
| 53 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.76171317 |
| 54 | Bile secretion_Homo sapiens_hsa04976 | 0.75345898 |
| 55 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.75267860 |
| 56 | Long-term potentiation_Homo sapiens_hsa04720 | 0.73534189 |
| 57 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.70229640 |
| 58 | Legionellosis_Homo sapiens_hsa05134 | 0.67411140 |
| 59 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.66280050 |
| 60 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.65031254 |
| 61 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.64575982 |
| 62 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.55149602 |
| 63 | ABC transporters_Homo sapiens_hsa02010 | 0.54899606 |
| 64 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.53914000 |
| 65 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.52442720 |
| 66 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.52438156 |
| 67 | Salivary secretion_Homo sapiens_hsa04970 | 0.49894319 |
| 68 | Endocytosis_Homo sapiens_hsa04144 | 0.49424926 |
| 69 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.49183226 |
| 70 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.48303435 |
| 71 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.45622012 |
| 72 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.45071950 |
| 73 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.44270639 |
| 74 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.43657019 |
| 75 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.43396249 |
| 76 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.43356811 |
| 77 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.43221365 |
| 78 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.42793694 |
| 79 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.40863446 |
| 80 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.36967157 |
| 81 | Metabolic pathways_Homo sapiens_hsa01100 | 0.35198721 |
| 82 | Taste transduction_Homo sapiens_hsa04742 | 0.35011115 |
| 83 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.34321845 |
| 84 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.34103042 |
| 85 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.31444287 |
| 86 | Circadian entrainment_Homo sapiens_hsa04713 | 0.31196120 |
| 87 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.30806848 |
| 88 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.26714359 |
| 89 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.26390449 |
| 90 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.25724296 |
| 91 | Alcoholism_Homo sapiens_hsa05034 | 0.25094388 |
| 92 | Cocaine addiction_Homo sapiens_hsa05030 | 0.19312617 |
| 93 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.17220789 |
| 94 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.11569799 |
| 95 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.11386835 |
| 96 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.11383302 |
| 97 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.10943403 |
| 98 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.08110780 |
| 99 | Salmonella infection_Homo sapiens_hsa05132 | 0.07248202 |
| 100 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.04563664 |

