

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | acrosome reaction (GO:0007340) | 9.04703236 |
| 2 | protein polyglutamylation (GO:0018095) | 8.26909793 |
| 3 | * protein targeting to Golgi (GO:0000042) | 8.17895589 |
| 4 | fusion of sperm to egg plasma membrane (GO:0007342) | 8.15098962 |
| 5 | * establishment of protein localization to Golgi (GO:0072600) | 7.99960981 |
| 6 | * retrograde transport, vesicle recycling within Golgi (GO:0000301) | 7.48795690 |
| 7 | rRNA methylation (GO:0031167) | 7.38538520 |
| 8 | single strand break repair (GO:0000012) | 7.37698337 |
| 9 | spermatid development (GO:0007286) | 6.83596994 |
| 10 | microtubule depolymerization (GO:0007019) | 6.82225133 |
| 11 | response to pheromone (GO:0019236) | 6.78465104 |
| 12 | centriole replication (GO:0007099) | 6.68665921 |
| 13 | microtubule polymerization or depolymerization (GO:0031109) | 6.35293682 |
| 14 | rRNA modification (GO:0000154) | 6.28598806 |
| 15 | DNA packaging (GO:0006323) | 6.28407375 |
| 16 | chromosome condensation (GO:0030261) | 6.27710156 |
| 17 | sperm capacitation (GO:0048240) | 6.23784265 |
| 18 | plasma membrane fusion (GO:0045026) | 6.23250966 |
| 19 | multicellular organism reproduction (GO:0032504) | 6.13803535 |
| 20 | sperm-egg recognition (GO:0035036) | 6.09092760 |
| 21 | * protein localization to Golgi apparatus (GO:0034067) | 6.01205036 |
| 22 | seminiferous tubule development (GO:0072520) | 5.92655847 |
| 23 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.85862227 |
| 24 | spermatogenesis (GO:0007283) | 5.84616652 |
| 25 | spermatid nucleus differentiation (GO:0007289) | 5.84375722 |
| 26 | male gamete generation (GO:0048232) | 5.83182686 |
| 27 | regulation of centriole replication (GO:0046599) | 5.78883116 |
| 28 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.74098099 |
| 29 | microtubule severing (GO:0051013) | 5.72609457 |
| 30 | regulation of cilium movement (GO:0003352) | 5.70624667 |
| 31 | centriole assembly (GO:0098534) | 5.58301970 |
| 32 | axonemal dynein complex assembly (GO:0070286) | 5.51914414 |
| 33 | epithelial cilium movement (GO:0003351) | 5.44108046 |
| 34 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.40363953 |
| 35 | gamete generation (GO:0007276) | 5.39622545 |
| 36 | calcium ion-dependent exocytosis (GO:0017156) | 5.28921924 |
| 37 | reproduction (GO:0000003) | 5.22916652 |
| 38 | binding of sperm to zona pellucida (GO:0007339) | 5.19351758 |
| 39 | RNA destabilization (GO:0050779) | 5.07257885 |
| 40 | cell-cell recognition (GO:0009988) | 5.00869222 |
| 41 | single fertilization (GO:0007338) | 4.88072575 |
| 42 | cilium movement (GO:0003341) | 4.66062066 |
| 43 | piRNA metabolic process (GO:0034587) | 4.55245804 |
| 44 | regulation of meiosis I (GO:0060631) | 4.54761542 |
| 45 | cellular ketone body metabolic process (GO:0046950) | 4.53929745 |
| 46 | fertilization (GO:0009566) | 4.41932742 |
| 47 | motile cilium assembly (GO:0044458) | 4.32913411 |
| 48 | multicellular organismal reproductive process (GO:0048609) | 4.28103521 |
| 49 | cell wall macromolecule catabolic process (GO:0016998) | 4.21742478 |
| 50 | germ cell development (GO:0007281) | 4.17554946 |
| 51 | glomerular visceral epithelial cell development (GO:0072015) | 4.15945886 |
| 52 | axoneme assembly (GO:0035082) | 4.05961797 |
| 53 | ketone body metabolic process (GO:1902224) | 3.98983358 |
| 54 | cell wall macromolecule metabolic process (GO:0044036) | 3.98421192 |
| 55 | microtubule nucleation (GO:0007020) | 3.85940839 |
| 56 | multicellular organismal movement (GO:0050879) | 3.80608550 |
| 57 | musculoskeletal movement (GO:0050881) | 3.80608550 |
| 58 | glomerular epithelial cell development (GO:0072310) | 3.80259195 |
| 59 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.78241577 |
| 60 | negative regulation of inclusion body assembly (GO:0090084) | 3.77245491 |
| 61 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.76970940 |
| 62 | male meiosis (GO:0007140) | 3.72256022 |
| 63 | regulation of microtubule-based movement (GO:0060632) | 3.70571308 |
| 64 | male meiosis I (GO:0007141) | 3.68928605 |
| 65 | regulation of Rab GTPase activity (GO:0032313) | 3.63263246 |
| 66 | positive regulation of Rab GTPase activity (GO:0032851) | 3.63263246 |
| 67 | DNA methylation involved in gamete generation (GO:0043046) | 3.57679450 |
| 68 | sexual reproduction (GO:0019953) | 3.57052913 |
| 69 | * intra-Golgi vesicle-mediated transport (GO:0006891) | 3.43008103 |
| 70 | nucleus organization (GO:0006997) | 3.41695049 |
| 71 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.39551243 |
| 72 | organic cation transport (GO:0015695) | 3.34067865 |
| 73 | histone mRNA catabolic process (GO:0071044) | 3.30758234 |
| 74 | glycerol ether metabolic process (GO:0006662) | 3.25401197 |
| 75 | acrosome assembly (GO:0001675) | 3.17582184 |
| 76 | synapsis (GO:0007129) | 3.16174869 |
| 77 | nuclear pore complex assembly (GO:0051292) | 3.09171145 |
| 78 | cilium organization (GO:0044782) | 3.03735613 |
| 79 | coenzyme catabolic process (GO:0009109) | 3.02219902 |
| 80 | ether metabolic process (GO:0018904) | 3.01911559 |
| 81 | cilium assembly (GO:0042384) | 3.01083515 |
| 82 | peptidyl-glutamic acid modification (GO:0018200) | 2.91256132 |
| 83 | ventricular system development (GO:0021591) | 2.89858859 |
| 84 | membrane protein intracellular domain proteolysis (GO:0031293) | 2.87472508 |
| 85 | regulation of hexokinase activity (GO:1903299) | 2.87264053 |
| 86 | regulation of glucokinase activity (GO:0033131) | 2.87264053 |
| 87 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.82856725 |
| 88 | spinal cord motor neuron differentiation (GO:0021522) | 2.79409640 |
| 89 | left/right axis specification (GO:0070986) | 2.72841626 |
| 90 | vesicle transport along microtubule (GO:0047496) | 2.71235197 |
| 91 | meiosis I (GO:0007127) | 2.70106578 |
| 92 | multicellular organismal development (GO:0007275) | 2.69155424 |
| 93 | mitochondrial fission (GO:0000266) | 2.65210376 |
| 94 | regulation of centrosome duplication (GO:0010824) | 2.59547666 |
| 95 | polyamine biosynthetic process (GO:0006596) | 2.56754105 |
| 96 | positive regulation of meiosis (GO:0045836) | 2.55822778 |
| 97 | alanine transport (GO:0032328) | 2.54818143 |
| 98 | Golgi to endosome transport (GO:0006895) | 2.54022105 |
| 99 | positive regulation of guanylate cyclase activity (GO:0031284) | 2.53686247 |
| 100 | sperm motility (GO:0030317) | 10.6267394 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 4.59106615 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.42765608 |
| 3 | FUS_26573619_Chip-Seq_HEK293_Human | 2.88662950 |
| 4 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.62295483 |
| 5 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.53039646 |
| 6 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.46937575 |
| 7 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.46937575 |
| 8 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.46337446 |
| 9 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.30904169 |
| 10 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.30753279 |
| 11 | VDR_22108803_ChIP-Seq_LS180_Human | 2.21675158 |
| 12 | P300_19829295_ChIP-Seq_ESCs_Human | 2.15412740 |
| 13 | TAF15_26573619_Chip-Seq_HEK293_Human | 2.11408912 |
| 14 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.11163450 |
| 15 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.11163450 |
| 16 | ER_23166858_ChIP-Seq_MCF-7_Human | 2.10241772 |
| 17 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 2.09251505 |
| 18 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.02083184 |
| 19 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 2.00871126 |
| 20 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.96893845 |
| 21 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.86565352 |
| 22 | * SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.79067293 |
| 23 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.72389506 |
| 24 | * SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.72079645 |
| 25 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.71839977 |
| 26 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.69259984 |
| 27 | * AR_25329375_ChIP-Seq_VCAP_Human | 1.68949142 |
| 28 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.67523434 |
| 29 | STAT3_23295773_ChIP-Seq_U87_Human | 1.62805484 |
| 30 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.62615872 |
| 31 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.62615872 |
| 32 | * SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.61075559 |
| 33 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.59794561 |
| 34 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.58274822 |
| 35 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.52365695 |
| 36 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.51750450 |
| 37 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.49582872 |
| 38 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.47946188 |
| 39 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.47776932 |
| 40 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.47711058 |
| 41 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.43251318 |
| 42 | * RBPJ_21746931_ChIP-Seq_IB4_Human | 1.43004094 |
| 43 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.42888712 |
| 44 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.42745005 |
| 45 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.42285285 |
| 46 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.40548583 |
| 47 | * ETV1_20927104_ChIP-Seq_GIST48_Human | 1.40027792 |
| 48 | NFYB_21822215_ChIP-Seq_K562_Human | 1.40017423 |
| 49 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.39738437 |
| 50 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.39080864 |
| 51 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.38779362 |
| 52 | * CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.38230246 |
| 53 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.36164266 |
| 54 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.36164266 |
| 55 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.35534596 |
| 56 | TBL1_22424771_ChIP-Seq_293T_Human | 1.35491382 |
| 57 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.35015184 |
| 58 | ERA_21632823_ChIP-Seq_H3396_Human | 1.32284393 |
| 59 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.30846002 |
| 60 | TCF4_23295773_ChIP-Seq_U87_Human | 1.29898224 |
| 61 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.28857361 |
| 62 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.28760957 |
| 63 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.28076334 |
| 64 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.27555473 |
| 65 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.27179138 |
| 66 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.27004382 |
| 67 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.26953774 |
| 68 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.26942215 |
| 69 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.26549786 |
| 70 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.26060810 |
| 71 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.25749376 |
| 72 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.23911893 |
| 73 | * PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.23319052 |
| 74 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.22676901 |
| 75 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.21469159 |
| 76 | NFYA_21822215_ChIP-Seq_K562_Human | 1.21243508 |
| 77 | CDX2_22108803_ChIP-Seq_LS180_Human | 1.20799913 |
| 78 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.20780312 |
| 79 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.20465938 |
| 80 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.19337458 |
| 81 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.19071567 |
| 82 | * TAF2_19829295_ChIP-Seq_ESCs_Human | 1.16877965 |
| 83 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.16006565 |
| 84 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.15686511 |
| 85 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.14699854 |
| 86 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.14517977 |
| 87 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.13883934 |
| 88 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.13094109 |
| 89 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.11182408 |
| 90 | SALL4_22934838_ChIP-ChIP_CD34+_Human | 1.10836148 |
| 91 | NCOR_22424771_ChIP-Seq_293T_Human | 1.09372401 |
| 92 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.08538838 |
| 93 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.08417203 |
| 94 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.08270014 |
| 95 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.07833943 |
| 96 | EWS_26573619_Chip-Seq_HEK293_Human | 1.06471747 |
| 97 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 1.06379499 |
| 98 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.06349442 |
| 99 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.04979281 |
| 100 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.04617824 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 9.49044777 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 4.18296112 |
| 3 | MP0003878_abnormal_ear_physiology | 4.18296112 |
| 4 | MP0005670_abnormal_white_adipose | 4.09836433 |
| 5 | MP0003698_abnormal_male_reproductive | 3.67364809 |
| 6 | MP0008877_abnormal_DNA_methylation | 3.49013210 |
| 7 | MP0001929_abnormal_gametogenesis | 3.46215883 |
| 8 | MP0006292_abnormal_olfactory_placode | 2.49226825 |
| 9 | MP0003718_maternal_effect | 2.30622244 |
| 10 | MP0005379_endocrine/exocrine_gland_phen | 2.28622053 |
| 11 | MP0003646_muscle_fatigue | 2.16678373 |
| 12 | MP0001486_abnormal_startle_reflex | 2.12759847 |
| 13 | MP0001485_abnormal_pinna_reflex | 2.00110196 |
| 14 | MP0005645_abnormal_hypothalamus_physiol | 1.95768402 |
| 15 | MP0002161_abnormal_fertility/fecundity | 1.93802123 |
| 16 | MP0005551_abnormal_eye_electrophysiolog | 1.91218690 |
| 17 | MP0002210_abnormal_sex_determination | 1.87556753 |
| 18 | MP0003011_delayed_dark_adaptation | 1.62593102 |
| 19 | MP0004742_abnormal_vestibular_system | 1.61590391 |
| 20 | MP0005253_abnormal_eye_physiology | 1.59976664 |
| 21 | MP0008789_abnormal_olfactory_epithelium | 1.53424462 |
| 22 | MP0001145_abnormal_male_reproductive | 1.52960516 |
| 23 | MP0000653_abnormal_sex_gland | 1.49190179 |
| 24 | MP0003787_abnormal_imprinting | 1.43237264 |
| 25 | MP0002638_abnormal_pupillary_reflex | 1.39156419 |
| 26 | MP0005310_abnormal_salivary_gland | 1.39130761 |
| 27 | MP0001348_abnormal_lacrimal_gland | 1.36191743 |
| 28 | MP0002102_abnormal_ear_morphology | 1.35733886 |
| 29 | MP0003879_abnormal_hair_cell | 1.32763570 |
| 30 | MP0002735_abnormal_chemical_nociception | 1.24459781 |
| 31 | MP0002837_dystrophic_cardiac_calcinosis | 1.23840480 |
| 32 | MP0005394_taste/olfaction_phenotype | 1.21036132 |
| 33 | MP0005499_abnormal_olfactory_system | 1.21036132 |
| 34 | MP0002138_abnormal_hepatobiliary_system | 1.19403946 |
| 35 | MP0001984_abnormal_olfaction | 1.18138404 |
| 36 | MP0001968_abnormal_touch/_nociception | 1.16479445 |
| 37 | MP0001963_abnormal_hearing_physiology | 1.15701462 |
| 38 | MP0000516_abnormal_urinary_system | 1.15063398 |
| 39 | MP0005367_renal/urinary_system_phenotyp | 1.15063398 |
| 40 | MP0001986_abnormal_taste_sensitivity | 1.12069379 |
| 41 | MP0005084_abnormal_gallbladder_morpholo | 1.10137848 |
| 42 | MP0006072_abnormal_retinal_apoptosis | 1.06823879 |
| 43 | MP0009046_muscle_twitch | 1.05979479 |
| 44 | MP0002282_abnormal_trachea_morphology | 1.04030261 |
| 45 | MP0002938_white_spotting | 1.03882979 |
| 46 | MP0009697_abnormal_copulation | 0.99226253 |
| 47 | MP0001765_abnormal_ion_homeostasis | 0.98321924 |
| 48 | MP0002557_abnormal_social/conspecific_i | 0.98237779 |
| 49 | MP0002229_neurodegeneration | 0.97712285 |
| 50 | MP0005423_abnormal_somatic_nervous | 0.93994067 |
| 51 | MP0005636_abnormal_mineral_homeostasis | 0.92698560 |
| 52 | MP0009745_abnormal_behavioral_response | 0.92155965 |
| 53 | MP0002272_abnormal_nervous_system | 0.90032203 |
| 54 | MP0003195_calcinosis | 0.87154830 |
| 55 | MP0001905_abnormal_dopamine_level | 0.86715212 |
| 56 | MP0002234_abnormal_pharynx_morphology | 0.86172536 |
| 57 | MP0005395_other_phenotype | 0.85862068 |
| 58 | MP0002254_reproductive_system_inflammat | 0.83797902 |
| 59 | MP0008995_early_reproductive_senescence | 0.83007245 |
| 60 | MP0003880_abnormal_central_pattern | 0.82675250 |
| 61 | MP0000230_abnormal_systemic_arterial | 0.82266813 |
| 62 | MP0002876_abnormal_thyroid_physiology | 0.81841611 |
| 63 | MP0006276_abnormal_autonomic_nervous | 0.81711459 |
| 64 | MP0001666_abnormal_nutrient_absorption | 0.81488513 |
| 65 | MP0002067_abnormal_sensory_capabilities | 0.81421626 |
| 66 | MP0008872_abnormal_physiological_respon | 0.81246215 |
| 67 | MP0002572_abnormal_emotion/affect_behav | 0.80569833 |
| 68 | MP0000026_abnormal_inner_ear | 0.79715279 |
| 69 | MP0001501_abnormal_sleep_pattern | 0.79389404 |
| 70 | MP0001944_abnormal_pancreas_morphology | 0.78988810 |
| 71 | MP0002693_abnormal_pancreas_physiology | 0.78859835 |
| 72 | MP0010329_abnormal_lipoprotein_level | 0.77745813 |
| 73 | MP0009115_abnormal_fat_cell | 0.75640109 |
| 74 | MP0005391_vision/eye_phenotype | 0.73164120 |
| 75 | MP0005167_abnormal_blood-brain_barrier | 0.72270826 |
| 76 | MP0002127_abnormal_cardiovascular_syste | 0.71466278 |
| 77 | MP0010386_abnormal_urinary_bladder | 0.70699484 |
| 78 | MP0002160_abnormal_reproductive_system | 0.69719582 |
| 79 | MP0008058_abnormal_DNA_repair | 0.68191203 |
| 80 | MP0009764_decreased_sensitivity_to | 0.68097094 |
| 81 | MP0001873_stomach_inflammation | 0.66642808 |
| 82 | MP0000678_abnormal_parathyroid_gland | 0.63692236 |
| 83 | MP0004085_abnormal_heartbeat | 0.62917448 |
| 84 | MP0005332_abnormal_amino_acid | 0.62236150 |
| 85 | MP0003137_abnormal_impulse_conducting | 0.62235339 |
| 86 | MP0005389_reproductive_system_phenotype | 0.61594751 |
| 87 | MP0002163_abnormal_gland_morphology | 0.59337698 |
| 88 | MP0001970_abnormal_pain_threshold | 0.59285458 |
| 89 | MP0008057_abnormal_DNA_replication | 0.59281060 |
| 90 | MP0002733_abnormal_thermal_nociception | 0.58841936 |
| 91 | MP0001756_abnormal_urination | 0.57427000 |
| 92 | MP0002132_abnormal_respiratory_system | 0.57060829 |
| 93 | MP0002928_abnormal_bile_duct | 0.55901233 |
| 94 | MP0000955_abnormal_spinal_cord | 0.55373891 |
| 95 | MP0001529_abnormal_vocalization | 0.54116920 |
| 96 | MP0000631_abnormal_neuroendocrine_gland | 0.51228142 |
| 97 | MP0005257_abnormal_intraocular_pressure | 0.51142782 |
| 98 | MP0005666_abnormal_adipose_tissue | 0.48691479 |
| 99 | MP0001119_abnormal_female_reproductive | 0.48126103 |
| 100 | MP0002734_abnormal_mechanical_nocicepti | 0.47970584 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Chronic hepatic failure (HP:0100626) | 6.32754996 |
| 2 | Tubulointerstitial nephritis (HP:0001970) | 6.01876707 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.60922349 |
| 4 | Absent/shortened dynein arms (HP:0200106) | 5.60922349 |
| 5 | Severe visual impairment (HP:0001141) | 4.76753984 |
| 6 | Abnormal ciliary motility (HP:0012262) | 4.46649506 |
| 7 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.21216357 |
| 8 | Attenuation of retinal blood vessels (HP:0007843) | 4.17891825 |
| 9 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.10289664 |
| 10 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.10289664 |
| 11 | Abnormality of macular pigmentation (HP:0008002) | 3.95110360 |
| 12 | Hyperkalemia (HP:0002153) | 3.84425391 |
| 13 | Nephronophthisis (HP:0000090) | 3.84012449 |
| 14 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.70037768 |
| 15 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.62015164 |
| 16 | Male infertility (HP:0003251) | 3.43842734 |
| 17 | Abnormality of the renal medulla (HP:0100957) | 3.33239418 |
| 18 | Hypoalphalipoproteinemia (HP:0003233) | 3.27652999 |
| 19 | Asymmetric septal hypertrophy (HP:0001670) | 3.25220979 |
| 20 | Abnormality of dental color (HP:0011073) | 3.24068245 |
| 21 | Progressive cerebellar ataxia (HP:0002073) | 3.22858482 |
| 22 | Menstrual irregularities (HP:0000858) | 3.18346662 |
| 23 | Cone-rod dystrophy (HP:0000548) | 3.16727466 |
| 24 | Insulin-resistant diabetes mellitus (HP:0000831) | 3.13971864 |
| 25 | Pancreatic cysts (HP:0001737) | 3.09868337 |
| 26 | Amelogenesis imperfecta (HP:0000705) | 3.05805740 |
| 27 | Hypoplasia of the thymus (HP:0000778) | 3.05243911 |
| 28 | Infertility (HP:0000789) | 3.01620343 |
| 29 | Hypoalbuminemia (HP:0003073) | 2.95465242 |
| 30 | Abnormal albumin level (HP:0012116) | 2.95465242 |
| 31 | Tubulointerstitial abnormality (HP:0001969) | 2.93184467 |
| 32 | Stage 5 chronic kidney disease (HP:0003774) | 2.82812708 |
| 33 | Resting tremor (HP:0002322) | 2.82468478 |
| 34 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.79265639 |
| 35 | Pancreatic fibrosis (HP:0100732) | 2.79098523 |
| 36 | Intestinal atresia (HP:0011100) | 2.72599330 |
| 37 | Nasal polyposis (HP:0100582) | 2.72349729 |
| 38 | Abnormality of the renal cortex (HP:0011035) | 2.69987921 |
| 39 | Impulsivity (HP:0100710) | 2.68526219 |
| 40 | Rhinitis (HP:0012384) | 2.66693827 |
| 41 | Optic nerve hypoplasia (HP:0000609) | 2.59667143 |
| 42 | True hermaphroditism (HP:0010459) | 2.59203043 |
| 43 | Portal hypertension (HP:0001409) | 2.58375404 |
| 44 | Aplasia/Hypoplasia of the fovea (HP:0008060) | 2.56621815 |
| 45 | Hypoplasia of the fovea (HP:0007750) | 2.56621815 |
| 46 | Truncal obesity (HP:0001956) | 2.51764674 |
| 47 | Generalized aminoaciduria (HP:0002909) | 2.49855571 |
| 48 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.46364320 |
| 49 | Molar tooth sign on MRI (HP:0002419) | 2.44869697 |
| 50 | Abnormality of midbrain morphology (HP:0002418) | 2.44869697 |
| 51 | Polydipsia (HP:0001959) | 2.39707319 |
| 52 | Abnormal drinking behavior (HP:0030082) | 2.39707319 |
| 53 | Progressive sensorineural hearing impairment (HP:0000408) | 2.37809793 |
| 54 | Potter facies (HP:0002009) | 2.36320722 |
| 55 | Facial shape deformation (HP:0011334) | 2.36320722 |
| 56 | Tubular atrophy (HP:0000092) | 2.36250180 |
| 57 | Abnormality of the hepatic vasculature (HP:0006707) | 2.34309200 |
| 58 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 2.32338661 |
| 59 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 2.32053013 |
| 60 | Congenital sensorineural hearing impairment (HP:0008527) | 2.31587968 |
| 61 | Abnormal spermatogenesis (HP:0008669) | 2.22280672 |
| 62 | Abnormality of the fovea (HP:0000493) | 2.16858174 |
| 63 | Pendular nystagmus (HP:0012043) | 2.14817170 |
| 64 | Abnormal urine output (HP:0012590) | 2.14681384 |
| 65 | Hypoglycemic seizures (HP:0002173) | 2.14541371 |
| 66 | Chronic bronchitis (HP:0004469) | 2.12568017 |
| 67 | Cystic liver disease (HP:0006706) | 2.10387177 |
| 68 | Abnormality of urine glucose concentration (HP:0011016) | 2.09872607 |
| 69 | Glycosuria (HP:0003076) | 2.09872607 |
| 70 | Congenital hepatic fibrosis (HP:0002612) | 2.07428452 |
| 71 | Abnormality of the nasal mucosa (HP:0000433) | 2.05024921 |
| 72 | Abnormality of the aortic arch (HP:0012303) | 2.04745142 |
| 73 | Renal Fanconi syndrome (HP:0001994) | 2.00699449 |
| 74 | Hypoproteinemia (HP:0003075) | 2.00500653 |
| 75 | Abnormality of potassium homeostasis (HP:0011042) | 1.99345794 |
| 76 | Hypoplastic ischia (HP:0003175) | 1.96521975 |
| 77 | Polyuria (HP:0000103) | 1.96410714 |
| 78 | Bronchiectasis (HP:0002110) | 1.95360831 |
| 79 | Decreased central vision (HP:0007663) | 1.95027420 |
| 80 | Pancreatic islet-cell hyperplasia (HP:0004510) | 1.91987217 |
| 81 | Hyperuricemia (HP:0002149) | 1.91959286 |
| 82 | Increased purine levels (HP:0004368) | 1.91959286 |
| 83 | Genetic anticipation (HP:0003743) | 1.90852234 |
| 84 | Abnormality of renal excretion (HP:0011036) | 1.89897272 |
| 85 | Azoospermia (HP:0000027) | 1.89313024 |
| 86 | Gastrointestinal atresia (HP:0002589) | 1.87189157 |
| 87 | Hypolipoproteinemia (HP:0010981) | 1.86353086 |
| 88 | Occipital encephalocele (HP:0002085) | 1.84809378 |
| 89 | Bell-shaped thorax (HP:0001591) | 1.84298727 |
| 90 | Intellectual disability, moderate (HP:0002342) | 1.80065917 |
| 91 | Enlarged epiphyses (HP:0010580) | 1.78513367 |
| 92 | Growth hormone deficiency (HP:0000824) | 1.76101618 |
| 93 | Medial flaring of the eyebrow (HP:0010747) | 1.74672095 |
| 94 | Postural instability (HP:0002172) | 1.73853470 |
| 95 | Congenital malformation of the right heart (HP:0011723) | 1.72268886 |
| 96 | Double outlet right ventricle (HP:0001719) | 1.72268886 |
| 97 | Abnormality of the costochondral junction (HP:0000919) | 1.70947792 |
| 98 | Abnormality of the ischium (HP:0003174) | 1.70572226 |
| 99 | Photophobia (HP:0000613) | 1.70091685 |
| 100 | Abolished electroretinogram (ERG) (HP:0000550) | 1.69844157 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 7.80870714 |
| 2 | INSRR | 5.61321964 |
| 3 | FRK | 3.65421904 |
| 4 | PNCK | 3.65289628 |
| 5 | BRD4 | 3.62341722 |
| 6 | MAP4K2 | 3.40919112 |
| 7 | PLK2 | 3.36159206 |
| 8 | PIK3CG | 2.52290518 |
| 9 | STK38L | 2.11642017 |
| 10 | PTK2B | 2.06705381 |
| 11 | TESK1 | 1.90678904 |
| 12 | CAMK1G | 1.73993666 |
| 13 | BMPR1B | 1.58601609 |
| 14 | STK38 | 1.45786966 |
| 15 | TYRO3 | 1.42119142 |
| 16 | WNK4 | 1.40348034 |
| 17 | ACVR1B | 1.36747712 |
| 18 | TRIM28 | 1.35947056 |
| 19 | WNK1 | 1.35894421 |
| 20 | NEK6 | 1.29632349 |
| 21 | PINK1 | 1.26119899 |
| 22 | DDR2 | 1.17308151 |
| 23 | TXK | 1.16789003 |
| 24 | MAPK13 | 1.14933573 |
| 25 | WNK3 | 1.13120942 |
| 26 | ADRBK2 | 1.10279496 |
| 27 | PDK1 | 1.09039675 |
| 28 | TIE1 | 1.05765665 |
| 29 | PRKD3 | 0.94664093 |
| 30 | GRK1 | 0.94168208 |
| 31 | ZAK | 0.86136548 |
| 32 | MST1R | 0.85467920 |
| 33 | MAPK15 | 0.83642259 |
| 34 | OXSR1 | 0.83140847 |
| 35 | AKT3 | 0.79039131 |
| 36 | PDPK1 | 0.78805972 |
| 37 | MAP3K4 | 0.77734816 |
| 38 | CDK3 | 0.76877688 |
| 39 | BRSK2 | 0.73956190 |
| 40 | MST4 | 0.71219723 |
| 41 | CSNK1G2 | 0.70938437 |
| 42 | CSNK1G1 | 0.69765437 |
| 43 | PRKCG | 0.69340860 |
| 44 | NTRK3 | 0.66214898 |
| 45 | STK39 | 0.64168062 |
| 46 | EIF2AK3 | 0.61624680 |
| 47 | CSNK1G3 | 0.61401772 |
| 48 | MARK1 | 0.60475252 |
| 49 | NUAK1 | 0.58249259 |
| 50 | FGFR2 | 0.54259886 |
| 51 | MAP2K7 | 0.54052760 |
| 52 | CDK19 | 0.54038185 |
| 53 | VRK1 | 0.53268103 |
| 54 | PRKG1 | 0.53015783 |
| 55 | PRKCE | 0.51604959 |
| 56 | TAOK3 | 0.51002878 |
| 57 | ERBB3 | 0.49056285 |
| 58 | TNIK | 0.48653098 |
| 59 | CDK7 | 0.47823934 |
| 60 | MKNK2 | 0.45414586 |
| 61 | TLK1 | 0.45125384 |
| 62 | CSNK1A1L | 0.44751129 |
| 63 | MAP3K2 | 0.43479557 |
| 64 | CAMK1 | 0.41389009 |
| 65 | DAPK2 | 0.40406875 |
| 66 | MUSK | 0.40091720 |
| 67 | CSNK1A1 | 0.36326871 |
| 68 | TAF1 | 0.35719556 |
| 69 | FER | 0.35126422 |
| 70 | ITK | 0.34802920 |
| 71 | BMPR2 | 0.34487971 |
| 72 | DYRK3 | 0.32532162 |
| 73 | TEC | 0.31162409 |
| 74 | PRKCB | 0.30104407 |
| 75 | MAP2K6 | 0.29983449 |
| 76 | PLK3 | 0.29568922 |
| 77 | MAPK1 | 0.28656722 |
| 78 | CSNK1D | 0.28539033 |
| 79 | GSK3B | 0.28004649 |
| 80 | SGK1 | 0.27780783 |
| 81 | PRKACA | 0.27311905 |
| 82 | * CDK1 | 0.27129667 |
| 83 | CAMK2A | 0.25608888 |
| 84 | WEE1 | 0.25141063 |
| 85 | MAP3K12 | 0.25131275 |
| 86 | PRKG2 | 0.24612465 |
| 87 | ROCK1 | 0.24506567 |
| 88 | ATM | 0.22472794 |
| 89 | MINK1 | 0.21854941 |
| 90 | DYRK2 | 0.21776993 |
| 91 | CDK2 | 0.21574099 |
| 92 | NME1 | 0.21470230 |
| 93 | PRKAA2 | 0.21186168 |
| 94 | SRPK1 | 0.21013795 |
| 95 | PLK1 | 0.20917381 |
| 96 | PRKCQ | 0.20061430 |
| 97 | MET | 0.19748052 |
| 98 | PHKG1 | 0.19545533 |
| 99 | PHKG2 | 0.19545533 |
| 100 | PRKACB | 0.19510857 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 5.49928655 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 4.57231044 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.37313795 |
| 4 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 3.13405024 |
| 5 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.96987501 |
| 6 | Phototransduction_Homo sapiens_hsa04744 | 2.35006394 |
| 7 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 2.32797644 |
| 8 | * RNA transport_Homo sapiens_hsa03013 | 2.05680510 |
| 9 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.91543511 |
| 10 | Asthma_Homo sapiens_hsa05310 | 1.85861619 |
| 11 | Taste transduction_Homo sapiens_hsa04742 | 1.73953367 |
| 12 | Allograft rejection_Homo sapiens_hsa05330 | 1.69525967 |
| 13 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.65496199 |
| 14 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.59660290 |
| 15 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.56277805 |
| 16 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.54126519 |
| 17 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.49907264 |
| 18 | Basal transcription factors_Homo sapiens_hsa03022 | 1.49530238 |
| 19 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.43470964 |
| 20 | Nicotine addiction_Homo sapiens_hsa05033 | 1.37443677 |
| 21 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.36955780 |
| 22 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.34647180 |
| 23 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.29216324 |
| 24 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.28611076 |
| 25 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.25079892 |
| 26 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.25044726 |
| 27 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.18900780 |
| 28 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.17780278 |
| 29 | ABC transporters_Homo sapiens_hsa02010 | 1.17540308 |
| 30 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.16769620 |
| 31 | Huntingtons disease_Homo sapiens_hsa05016 | 1.15520203 |
| 32 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.13190419 |
| 33 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.10879941 |
| 34 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.09569812 |
| 35 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 1.04434583 |
| 36 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.02392551 |
| 37 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.02352898 |
| 38 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.00584552 |
| 39 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.00429291 |
| 40 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.97873513 |
| 41 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.96720540 |
| 42 | Retinol metabolism_Homo sapiens_hsa00830 | 0.93858276 |
| 43 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.93738689 |
| 44 | Morphine addiction_Homo sapiens_hsa05032 | 0.93661271 |
| 45 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.93293250 |
| 46 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.90966245 |
| 47 | Salivary secretion_Homo sapiens_hsa04970 | 0.86471368 |
| 48 | Circadian entrainment_Homo sapiens_hsa04713 | 0.86360505 |
| 49 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.82706831 |
| 50 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.81067819 |
| 51 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.80384375 |
| 52 | Insulin secretion_Homo sapiens_hsa04911 | 0.79324152 |
| 53 | Protein export_Homo sapiens_hsa03060 | 0.79097650 |
| 54 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.76405382 |
| 55 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.76078369 |
| 56 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.74940168 |
| 57 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.74494853 |
| 58 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.73891996 |
| 59 | RNA degradation_Homo sapiens_hsa03018 | 0.72108475 |
| 60 | Circadian rhythm_Homo sapiens_hsa04710 | 0.70891310 |
| 61 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.69256383 |
| 62 | GABAergic synapse_Homo sapiens_hsa04727 | 0.67971008 |
| 63 | Homologous recombination_Homo sapiens_hsa03440 | 0.63731510 |
| 64 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.62201433 |
| 65 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.61925834 |
| 66 | Purine metabolism_Homo sapiens_hsa00230 | 0.58343344 |
| 67 | Parkinsons disease_Homo sapiens_hsa05012 | 0.57571576 |
| 68 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.57269270 |
| 69 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.56648924 |
| 70 | Peroxisome_Homo sapiens_hsa04146 | 0.54967433 |
| 71 | Metabolic pathways_Homo sapiens_hsa01100 | 0.53486129 |
| 72 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.51919240 |
| 73 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.51717899 |
| 74 | Renin secretion_Homo sapiens_hsa04924 | 0.51651928 |
| 75 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.51237494 |
| 76 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.50683982 |
| 77 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.50345364 |
| 78 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.50147881 |
| 79 | Viral myocarditis_Homo sapiens_hsa05416 | 0.49292899 |
| 80 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.48666928 |
| 81 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.45992247 |
| 82 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.45825431 |
| 83 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.41795857 |
| 84 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.41780269 |
| 85 | Alzheimers disease_Homo sapiens_hsa05010 | 0.41130174 |
| 86 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.40786613 |
| 87 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.40645542 |
| 88 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.40184894 |
| 89 | RNA polymerase_Homo sapiens_hsa03020 | 0.40159841 |
| 90 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.39849308 |
| 91 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.37486134 |
| 92 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.37171298 |
| 93 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.36418467 |
| 94 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.35248581 |
| 95 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.34646732 |
| 96 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.34421881 |
| 97 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.34371631 |
| 98 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.33946097 |
| 99 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.32091774 |
| 100 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.31991089 |

