

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm capacitation (GO:0048240) | 9.77046871 |
| 2 | response to pheromone (GO:0019236) | 9.56721522 |
| 3 | chromosome condensation (GO:0030261) | 9.13727426 |
| 4 | DNA packaging (GO:0006323) | 8.97128431 |
| 5 | single strand break repair (GO:0000012) | 8.34643164 |
| 6 | spermatid development (GO:0007286) | 8.30940378 |
| 7 | spermatid nucleus differentiation (GO:0007289) | 8.25360403 |
| 8 | plasma membrane fusion (GO:0045026) | 8.13003020 |
| 9 | microtubule depolymerization (GO:0007019) | 7.90536746 |
| 10 | sperm-egg recognition (GO:0035036) | 7.36135041 |
| 11 | multicellular organism reproduction (GO:0032504) | 7.05794243 |
| 12 | sexual reproduction (GO:0019953) | 6.89651116 |
| 13 | negative regulation of inclusion body assembly (GO:0090084) | 6.79354302 |
| 14 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.77875858 |
| 15 | protein polyglutamylation (GO:0018095) | 6.77623703 |
| 16 | reproduction (GO:0000003) | 6.76795321 |
| 17 | rRNA methylation (GO:0031167) | 6.67002729 |
| 18 | calcium ion-dependent exocytosis (GO:0017156) | 6.63388516 |
| 19 | binding of sperm to zona pellucida (GO:0007339) | 6.58285849 |
| 20 | microtubule polymerization or depolymerization (GO:0031109) | 6.37843737 |
| 21 | phosphatidylethanolamine metabolic process (GO:0046337) | 6.27583384 |
| 22 | cell-cell recognition (GO:0009988) | 6.05951138 |
| 23 | microtubule severing (GO:0051013) | 6.05927486 |
| 24 | axonemal dynein complex assembly (GO:0070286) | 6.03877040 |
| 25 | protein targeting to Golgi (GO:0000042) | 5.89724450 |
| 26 | cellular ketone body metabolic process (GO:0046950) | 5.89090531 |
| 27 | spermatogenesis (GO:0007283) | 5.85435047 |
| 28 | male gamete generation (GO:0048232) | 5.83549533 |
| 29 | establishment of protein localization to Golgi (GO:0072600) | 5.71244519 |
| 30 | rRNA modification (GO:0000154) | 5.60015576 |
| 31 | regulation of cilium movement (GO:0003352) | 5.51949205 |
| 32 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.48369046 |
| 33 | gamete generation (GO:0007276) | 5.33589020 |
| 34 | regulation of Rab GTPase activity (GO:0032313) | 5.25162679 |
| 35 | positive regulation of Rab GTPase activity (GO:0032851) | 5.25162679 |
| 36 | ketone body metabolic process (GO:1902224) | 5.19952117 |
| 37 | centriole replication (GO:0007099) | 5.09062427 |
| 38 | regulation of transcription involved in cell fate commitment (GO:0060850) | 5.02176113 |
| 39 | regulation of inclusion body assembly (GO:0090083) | 4.86628990 |
| 40 | RNA destabilization (GO:0050779) | 4.78297530 |
| 41 | cell wall macromolecule catabolic process (GO:0016998) | 4.75248185 |
| 42 | chromatin silencing (GO:0006342) | 4.68131875 |
| 43 | single fertilization (GO:0007338) | 4.61619129 |
| 44 | germ cell development (GO:0007281) | 4.61304811 |
| 45 | cell wall macromolecule metabolic process (GO:0044036) | 4.59998252 |
| 46 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.58020767 |
| 47 | motile cilium assembly (GO:0044458) | 4.56351475 |
| 48 | centriole assembly (GO:0098534) | 4.45984062 |
| 49 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.40493095 |
| 50 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 4.36333215 |
| 51 | multicellular organismal reproductive process (GO:0048609) | 4.28809850 |
| 52 | regulation of microtubule-based movement (GO:0060632) | 4.24820061 |
| 53 | protein localization to Golgi apparatus (GO:0034067) | 4.24804306 |
| 54 | organic cation transport (GO:0015695) | 4.04795906 |
| 55 | nucleus organization (GO:0006997) | 4.02074905 |
| 56 | regulation of somitogenesis (GO:0014807) | 3.97104544 |
| 57 | coenzyme catabolic process (GO:0009109) | 3.92729105 |
| 58 | epithelial cilium movement (GO:0003351) | 3.90200079 |
| 59 | regulation of centriole replication (GO:0046599) | 3.88305519 |
| 60 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.82478845 |
| 61 | fertilization (GO:0009566) | 3.77781528 |
| 62 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.76681504 |
| 63 | polyamine biosynthetic process (GO:0006596) | 3.69803464 |
| 64 | musculoskeletal movement (GO:0050881) | 3.68107393 |
| 65 | multicellular organismal movement (GO:0050879) | 3.68107393 |
| 66 | response to acidic pH (GO:0010447) | 3.67547351 |
| 67 | cerebral cortex neuron differentiation (GO:0021895) | 3.60298863 |
| 68 | protein-DNA complex disassembly (GO:0032986) | 3.43804184 |
| 69 | nucleosome disassembly (GO:0006337) | 3.43804184 |
| 70 | cellular response to pH (GO:0071467) | 3.41500287 |
| 71 | cilium movement (GO:0003341) | 3.41178126 |
| 72 | cranial nerve morphogenesis (GO:0021602) | 3.34312123 |
| 73 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.26057006 |
| 74 | glycerol ether metabolic process (GO:0006662) | 3.23737178 |
| 75 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.22444374 |
| 76 | seminiferous tubule development (GO:0072520) | 3.21541614 |
| 77 | regulation of interleukin-13 production (GO:0032656) | 3.20193382 |
| 78 | homeostasis of number of cells within a tissue (GO:0048873) | 3.10854190 |
| 79 | regulation of T-helper 2 cell differentiation (GO:0045628) | 3.10820754 |
| 80 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.07160121 |
| 81 | multicellular organismal development (GO:0007275) | 3.06781684 |
| 82 | ether metabolic process (GO:0018904) | 2.99369565 |
| 83 | histone H3-K9 demethylation (GO:0033169) | 2.98639312 |
| 84 | cell recognition (GO:0008037) | 2.96848443 |
| 85 | negative regulation of mesenchymal cell apoptotic process (GO:2001054) | 2.95570920 |
| 86 | protein depolymerization (GO:0051261) | 2.93015362 |
| 87 | NAD biosynthetic process (GO:0009435) | 2.90999490 |
| 88 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 2.90727763 |
| 89 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 2.89170346 |
| 90 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 2.89170346 |
| 91 | DNA conformation change (GO:0071103) | 2.82500210 |
| 92 | negative regulation of histone methylation (GO:0031061) | 2.81270549 |
| 93 | tooth mineralization (GO:0034505) | 2.80690713 |
| 94 | cell differentiation involved in metanephros development (GO:0072202) | 2.79467286 |
| 95 | mitochondrial fission (GO:0000266) | 2.79000175 |
| 96 | Golgi to endosome transport (GO:0006895) | 2.78974330 |
| 97 | microtubule nucleation (GO:0007020) | 2.76426316 |
| 98 | acrosome reaction (GO:0007340) | 12.1608288 |
| 99 | sperm motility (GO:0030317) | 11.7615177 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.6652044 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.71114141 |
| 2 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.40010081 |
| 3 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 2.69939115 |
| 4 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.52150140 |
| 5 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.35499656 |
| 6 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.35499656 |
| 7 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.22931661 |
| 8 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.12202567 |
| 9 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 2.12026933 |
| 10 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.09134304 |
| 11 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.09134304 |
| 12 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.04380395 |
| 13 | DROSHA_22980978_ChIP-Seq_HELA_Human | 2.03404452 |
| 14 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.94728138 |
| 15 | ERA_21632823_ChIP-Seq_H3396_Human | 1.94138809 |
| 16 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.93194781 |
| 17 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.92280124 |
| 18 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.85002060 |
| 19 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.81396828 |
| 20 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.78118777 |
| 21 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.77410609 |
| 22 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.77073818 |
| 23 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.75350816 |
| 24 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.75267308 |
| 25 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.72698952 |
| 26 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.71875063 |
| 27 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.65230494 |
| 28 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.64849179 |
| 29 | FUS_26573619_Chip-Seq_HEK293_Human | 1.63521961 |
| 30 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.60342263 |
| 31 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.59200578 |
| 32 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.58672429 |
| 33 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.57759809 |
| 34 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.57159615 |
| 35 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.56348105 |
| 36 | P68_20966046_ChIP-Seq_HELA_Human | 1.52642989 |
| 37 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.51653217 |
| 38 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.51258235 |
| 39 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.49941229 |
| 40 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.49860338 |
| 41 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.47802161 |
| 42 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.46957881 |
| 43 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.45399927 |
| 44 | AR_25329375_ChIP-Seq_VCAP_Human | 1.44715154 |
| 45 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.43407912 |
| 46 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.42734284 |
| 47 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.41724918 |
| 48 | P300_27268052_Chip-Seq_Bcells_Human | 1.40592847 |
| 49 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.40146920 |
| 50 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.39571380 |
| 51 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.39025727 |
| 52 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.36342540 |
| 53 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.35478997 |
| 54 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.31753524 |
| 55 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.30951805 |
| 56 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.29995205 |
| 57 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.28387075 |
| 58 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.28179404 |
| 59 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.27581535 |
| 60 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.26870088 |
| 61 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.25209509 |
| 62 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.24798083 |
| 63 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.24684760 |
| 64 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.24132703 |
| 65 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.24052059 |
| 66 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.22921699 |
| 67 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.22566963 |
| 68 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.22557404 |
| 69 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.20892183 |
| 70 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.20526559 |
| 71 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.20401129 |
| 72 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.19957795 |
| 73 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.18783833 |
| 74 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.17059695 |
| 75 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.17041251 |
| 76 | P300_19829295_ChIP-Seq_ESCs_Human | 1.16881866 |
| 77 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.16403191 |
| 78 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.15836787 |
| 79 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.13264760 |
| 80 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.12721254 |
| 81 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.10216468 |
| 82 | NFYB_21822215_ChIP-Seq_K562_Human | 1.10205894 |
| 83 | SA1_27219007_Chip-Seq_Bcells_Human | 1.10093468 |
| 84 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.07737190 |
| 85 | TBL1_22424771_ChIP-Seq_293T_Human | 1.07347513 |
| 86 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.07070993 |
| 87 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.05159048 |
| 88 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.04743061 |
| 89 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.04617161 |
| 90 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.04604479 |
| 91 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.03466569 |
| 92 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.01595950 |
| 93 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.01372776 |
| 94 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.01372776 |
| 95 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.01002219 |
| 96 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.00282533 |
| 97 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.00226965 |
| 98 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.99309514 |
| 99 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.98851646 |
| 100 | SMAD4_21799915_ChIP-Seq_A2780_Human | 0.98339705 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005670_abnormal_white_adipose | 4.93111966 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 4.78068003 |
| 3 | MP0003878_abnormal_ear_physiology | 4.78068003 |
| 4 | MP0003698_abnormal_male_reproductive | 4.47287226 |
| 5 | MP0001929_abnormal_gametogenesis | 3.83549540 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.17046784 |
| 7 | MP0000678_abnormal_parathyroid_gland | 2.63781044 |
| 8 | MP0002161_abnormal_fertility/fecundity | 2.54343856 |
| 9 | MP0003718_maternal_effect | 2.16724027 |
| 10 | MP0002822_catalepsy | 2.05106358 |
| 11 | MP0005410_abnormal_fertilization | 12.3856285 |
| 12 | MP0002234_abnormal_pharynx_morphology | 1.98778433 |
| 13 | MP0003646_muscle_fatigue | 1.94119696 |
| 14 | MP0002132_abnormal_respiratory_system | 1.87700198 |
| 15 | MP0005423_abnormal_somatic_nervous | 1.85379035 |
| 16 | MP0003011_delayed_dark_adaptation | 1.84639734 |
| 17 | MP0002210_abnormal_sex_determination | 1.70797412 |
| 18 | MP0002249_abnormal_larynx_morphology | 1.66792517 |
| 19 | MP0005379_endocrine/exocrine_gland_phen | 1.57795617 |
| 20 | MP0001485_abnormal_pinna_reflex | 1.46507719 |
| 21 | MP0002735_abnormal_chemical_nociception | 1.46169354 |
| 22 | MP0001145_abnormal_male_reproductive | 1.41735972 |
| 23 | MP0001486_abnormal_startle_reflex | 1.39715874 |
| 24 | MP0002282_abnormal_trachea_morphology | 1.37714935 |
| 25 | MP0000653_abnormal_sex_gland | 1.36631027 |
| 26 | MP0004859_abnormal_synaptic_plasticity | 1.35885054 |
| 27 | MP0009053_abnormal_anal_canal | 1.33721520 |
| 28 | MP0001968_abnormal_touch/_nociception | 1.29522112 |
| 29 | MP0000534_abnormal_ureter_morphology | 1.29444516 |
| 30 | MP0005310_abnormal_salivary_gland | 1.29264598 |
| 31 | MP0001765_abnormal_ion_homeostasis | 1.12702675 |
| 32 | MP0004742_abnormal_vestibular_system | 1.09233741 |
| 33 | MP0002127_abnormal_cardiovascular_syste | 1.07859361 |
| 34 | MP0004510_myositis | 1.06848904 |
| 35 | MP0001963_abnormal_hearing_physiology | 1.04329446 |
| 36 | MP0002138_abnormal_hepatobiliary_system | 1.03745284 |
| 37 | MP0000955_abnormal_spinal_cord | 1.01091926 |
| 38 | MP0005395_other_phenotype | 0.98364897 |
| 39 | MP0000026_abnormal_inner_ear | 0.97238893 |
| 40 | MP0000681_abnormal_thyroid_gland | 0.95848590 |
| 41 | MP0002229_neurodegeneration | 0.94980551 |
| 42 | MP0008569_lethality_at_weaning | 0.91214291 |
| 43 | MP0001905_abnormal_dopamine_level | 0.91118074 |
| 44 | MP0008877_abnormal_DNA_methylation | 0.91038812 |
| 45 | MP0003879_abnormal_hair_cell | 0.88363785 |
| 46 | MP0005551_abnormal_eye_electrophysiolog | 0.87409714 |
| 47 | MP0002067_abnormal_sensory_capabilities | 0.85644347 |
| 48 | MP0005248_abnormal_Harderian_gland | 0.85303272 |
| 49 | MP0002557_abnormal_social/conspecific_i | 0.83623773 |
| 50 | MP0000049_abnormal_middle_ear | 0.81998056 |
| 51 | MP0002733_abnormal_thermal_nociception | 0.79998536 |
| 52 | MP0009115_abnormal_fat_cell | 0.77273649 |
| 53 | MP0003880_abnormal_central_pattern | 0.76367255 |
| 54 | MP0005367_renal/urinary_system_phenotyp | 0.76181271 |
| 55 | MP0000516_abnormal_urinary_system | 0.76181271 |
| 56 | MP0009745_abnormal_behavioral_response | 0.71906566 |
| 57 | MP0005666_abnormal_adipose_tissue | 0.71851460 |
| 58 | MP0004085_abnormal_heartbeat | 0.71821421 |
| 59 | MP0001879_abnormal_lymphatic_vessel | 0.71721644 |
| 60 | MP0005451_abnormal_body_composition | 0.70952721 |
| 61 | MP0002272_abnormal_nervous_system | 0.69961511 |
| 62 | MP0006292_abnormal_olfactory_placode | 0.69345868 |
| 63 | MP0002572_abnormal_emotion/affect_behav | 0.67149781 |
| 64 | MP0005083_abnormal_biliary_tract | 0.65351666 |
| 65 | MP0002734_abnormal_mechanical_nocicepti | 0.63311658 |
| 66 | MP0004484_altered_response_of | 0.62416262 |
| 67 | MP0005375_adipose_tissue_phenotype | 0.62050922 |
| 68 | MP0005253_abnormal_eye_physiology | 0.61821950 |
| 69 | MP0001440_abnormal_grooming_behavior | 0.61422625 |
| 70 | MP0005636_abnormal_mineral_homeostasis | 0.61237751 |
| 71 | MP0003119_abnormal_digestive_system | 0.61022076 |
| 72 | MP0001970_abnormal_pain_threshold | 0.59460406 |
| 73 | MP0005167_abnormal_blood-brain_barrier | 0.58136077 |
| 74 | MP0000613_abnormal_salivary_gland | 0.57682014 |
| 75 | MP0001666_abnormal_nutrient_absorption | 0.55605516 |
| 76 | MP0003635_abnormal_synaptic_transmissio | 0.52780732 |
| 77 | MP0008995_early_reproductive_senescence | 0.50416956 |
| 78 | MP0000003_abnormal_adipose_tissue | 0.50166210 |
| 79 | MP0003699_abnormal_female_reproductive | 0.49973881 |
| 80 | MP0001501_abnormal_sleep_pattern | 0.49280143 |
| 81 | MP0002928_abnormal_bile_duct | 0.48590400 |
| 82 | MP0005535_abnormal_body_temperature | 0.47619602 |
| 83 | MP0003137_abnormal_impulse_conducting | 0.47504703 |
| 84 | MP0008961_abnormal_basal_metabolism | 0.45642920 |
| 85 | MP0005647_abnormal_sex_gland | 0.45573313 |
| 86 | MP0000470_abnormal_stomach_morphology | 0.45137081 |
| 87 | MP0000249_abnormal_blood_vessel | 0.43617848 |
| 88 | MP0009046_muscle_twitch | 0.42802528 |
| 89 | MP0002882_abnormal_neuron_morphology | 0.41511831 |
| 90 | MP0003077_abnormal_cell_cycle | 0.41098993 |
| 91 | MP0003631_nervous_system_phenotype | 0.38948676 |
| 92 | MP0009697_abnormal_copulation | 0.38793156 |
| 93 | MP0002653_abnormal_ependyma_morphology | 0.37722150 |
| 94 | MP0003936_abnormal_reproductive_system | 0.37481611 |
| 95 | MP0001270_distended_abdomen | 0.37455617 |
| 96 | MP0005084_abnormal_gallbladder_morpholo | 0.36480395 |
| 97 | MP0006276_abnormal_autonomic_nervous | 0.36201378 |
| 98 | MP0003861_abnormal_nervous_system | 0.31421824 |
| 99 | MP0002752_abnormal_somatic_nervous | 0.30745591 |
| 100 | MP0003632_abnormal_nervous_system | 0.30505630 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 8.39738577 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 5.68261809 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.68261809 |
| 4 | Attenuation of retinal blood vessels (HP:0007843) | 5.28948703 |
| 5 | Bony spicule pigmentary retinopathy (HP:0007737) | 5.23717198 |
| 6 | Asymmetric septal hypertrophy (HP:0001670) | 4.85704783 |
| 7 | Bell-shaped thorax (HP:0001591) | 4.60370697 |
| 8 | Hyperkalemia (HP:0002153) | 4.58830583 |
| 9 | Tubulointerstitial nephritis (HP:0001970) | 4.51140389 |
| 10 | Abnormal ciliary motility (HP:0012262) | 4.42773250 |
| 11 | Resting tremor (HP:0002322) | 4.34784384 |
| 12 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.32838319 |
| 13 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.29574982 |
| 14 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.29574982 |
| 15 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.27756495 |
| 16 | Potter facies (HP:0002009) | 4.24005021 |
| 17 | Facial shape deformation (HP:0011334) | 4.24005021 |
| 18 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.21995424 |
| 19 | Chronic hepatic failure (HP:0100626) | 4.18082497 |
| 20 | Infertility (HP:0000789) | 4.13685039 |
| 21 | Hypoplastic ischia (HP:0003175) | 4.13624162 |
| 22 | Abnormality of macular pigmentation (HP:0008002) | 4.10179447 |
| 23 | Male infertility (HP:0003251) | 3.99775038 |
| 24 | Nasal polyposis (HP:0100582) | 3.75765119 |
| 25 | Abnormality of the ischium (HP:0003174) | 3.65786681 |
| 26 | Azoospermia (HP:0000027) | 3.51503099 |
| 27 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.51218368 |
| 28 | Enlarged epiphyses (HP:0010580) | 3.49773604 |
| 29 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.44775158 |
| 30 | Impulsivity (HP:0100710) | 3.43696333 |
| 31 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 3.41196612 |
| 32 | Abnormal spermatogenesis (HP:0008669) | 3.37184158 |
| 33 | Cone-rod dystrophy (HP:0000548) | 3.33895322 |
| 34 | Unilateral renal agenesis (HP:0000122) | 3.28097382 |
| 35 | Congenital malformation of the right heart (HP:0011723) | 3.23700511 |
| 36 | Double outlet right ventricle (HP:0001719) | 3.23700511 |
| 37 | Hypoplasia of the thymus (HP:0000778) | 3.09057513 |
| 38 | Abnormality of the aortic arch (HP:0012303) | 3.08123982 |
| 39 | Postural instability (HP:0002172) | 3.06087686 |
| 40 | Abnormality of the nasal mucosa (HP:0000433) | 3.00660539 |
| 41 | Abnormal urine output (HP:0012590) | 2.98325531 |
| 42 | Nephronophthisis (HP:0000090) | 2.94937290 |
| 43 | Renal dysplasia (HP:0000110) | 2.88341159 |
| 44 | Progressive cerebellar ataxia (HP:0002073) | 2.73106347 |
| 45 | Generalized aminoaciduria (HP:0002909) | 2.72833785 |
| 46 | Abnormality of potassium homeostasis (HP:0011042) | 2.70514648 |
| 47 | Rhinitis (HP:0012384) | 2.61059788 |
| 48 | Abnormality of the parathyroid morphology (HP:0011766) | 2.60274976 |
| 49 | Progressive sensorineural hearing impairment (HP:0000408) | 2.57109472 |
| 50 | Truncal obesity (HP:0001956) | 2.56249079 |
| 51 | Abnormality of renal excretion (HP:0011036) | 2.56048135 |
| 52 | Abnormal drinking behavior (HP:0030082) | 2.51606539 |
| 53 | Polydipsia (HP:0001959) | 2.51606539 |
| 54 | Epiphyseal dysplasia (HP:0002656) | 2.50755813 |
| 55 | Abnormality of the renal medulla (HP:0100957) | 2.48724998 |
| 56 | Hypoalphalipoproteinemia (HP:0003233) | 2.48319088 |
| 57 | Amelogenesis imperfecta (HP:0000705) | 2.41459345 |
| 58 | Polyuria (HP:0000103) | 2.40011814 |
| 59 | Abnormality of the costochondral junction (HP:0000919) | 2.34224882 |
| 60 | Stage 5 chronic kidney disease (HP:0003774) | 2.32811157 |
| 61 | Tubulointerstitial abnormality (HP:0001969) | 2.29677793 |
| 62 | Tetany (HP:0001281) | 2.25797500 |
| 63 | Abnormality of the pubic bones (HP:0003172) | 2.23712665 |
| 64 | Portal hypertension (HP:0001409) | 2.20906085 |
| 65 | Renovascular hypertension (HP:0100817) | 2.20057395 |
| 66 | Absent epiphyses (HP:0010577) | 2.18958844 |
| 67 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 2.18958844 |
| 68 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.18234255 |
| 69 | Abnormality of dental color (HP:0011073) | 2.11305835 |
| 70 | Myokymia (HP:0002411) | 2.06292716 |
| 71 | Ventricular tachycardia (HP:0004756) | 2.06038576 |
| 72 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 2.02884431 |
| 73 | Widely patent fontanelles and sutures (HP:0004492) | 2.02460450 |
| 74 | Hypophosphatemic rickets (HP:0004912) | 2.01220030 |
| 75 | Decreased central vision (HP:0007663) | 2.00566246 |
| 76 | Menstrual irregularities (HP:0000858) | 2.00400851 |
| 77 | Abnormality of the hepatic vasculature (HP:0006707) | 2.00215074 |
| 78 | Flattened epiphyses (HP:0003071) | 1.99808719 |
| 79 | Hyponatremia (HP:0002902) | 1.98908106 |
| 80 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 1.97665445 |
| 81 | Hyperthyroidism (HP:0000836) | 1.96848735 |
| 82 | Amblyopia (HP:0000646) | 1.96781596 |
| 83 | Osteomalacia (HP:0002749) | 1.94815819 |
| 84 | Bronchiectasis (HP:0002110) | 1.94048211 |
| 85 | Transposition of the great arteries (HP:0001669) | 1.93939174 |
| 86 | Abnormal connection of the cardiac segments (HP:0011545) | 1.93939174 |
| 87 | Abnormal ventriculo-arterial connection (HP:0011563) | 1.93939174 |
| 88 | Abnormality of femoral epiphyses (HP:0006499) | 1.88182957 |
| 89 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 1.88182957 |
| 90 | Optic nerve hypoplasia (HP:0000609) | 1.85387405 |
| 91 | Recurrent pneumonia (HP:0006532) | 1.83960485 |
| 92 | Spastic paraparesis (HP:0002313) | 1.81862267 |
| 93 | Short ribs (HP:0000773) | 1.81674917 |
| 94 | Abnormality of the femoral head (HP:0003368) | 1.81610324 |
| 95 | Recurrent corneal erosions (HP:0000495) | 1.79858732 |
| 96 | Renal Fanconi syndrome (HP:0001994) | 1.79315218 |
| 97 | Abnormality of chloride homeostasis (HP:0011422) | 1.78577269 |
| 98 | Bulbous nose (HP:0000414) | 1.76643923 |
| 99 | Flat capital femoral epiphysis (HP:0003370) | 1.76067373 |
| 100 | Chronic bronchitis (HP:0004469) | 1.75094911 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 7.62678716 |
| 2 | TESK1 | 6.89189860 |
| 3 | DDR2 | 5.21840972 |
| 4 | STK38 | 3.68842568 |
| 5 | MAP4K2 | 3.32152843 |
| 6 | INSRR | 3.21361479 |
| 7 | PNCK | 2.97525717 |
| 8 | MAPK15 | 2.83523453 |
| 9 | PLK2 | 2.80282577 |
| 10 | STK38L | 2.50230919 |
| 11 | PRKD3 | 2.45793457 |
| 12 | CAMK1G | 2.37819766 |
| 13 | BRD4 | 2.31669217 |
| 14 | MST1R | 1.78356824 |
| 15 | WNK1 | 1.62518550 |
| 16 | PDPK1 | 1.61281063 |
| 17 | PDK1 | 1.48574262 |
| 18 | DYRK1B | 1.47960529 |
| 19 | CDK7 | 1.32972156 |
| 20 | PTK2B | 1.17931715 |
| 21 | NEK6 | 1.13247024 |
| 22 | CDK12 | 1.13047370 |
| 23 | PIK3CG | 1.11432072 |
| 24 | WNK4 | 1.05635336 |
| 25 | SIK2 | 0.98564743 |
| 26 | AKT3 | 0.97828756 |
| 27 | KSR2 | 0.96024476 |
| 28 | CAMK1D | 0.94539744 |
| 29 | MAP3K9 | 0.92461712 |
| 30 | UHMK1 | 0.84564379 |
| 31 | STK39 | 0.81333225 |
| 32 | BMPR1B | 0.75239805 |
| 33 | RPS6KA2 | 0.73717260 |
| 34 | PRKG1 | 0.69439962 |
| 35 | MAP3K11 | 0.69245828 |
| 36 | BRAF | 0.67748052 |
| 37 | MAP2K2 | 0.67406374 |
| 38 | RPS6KA1 | 0.67186625 |
| 39 | PRKG2 | 0.66424330 |
| 40 | MARK1 | 0.65251184 |
| 41 | PRKAA2 | 0.64256700 |
| 42 | FRK | 0.61272219 |
| 43 | MAP3K2 | 0.58852250 |
| 44 | ROCK1 | 0.58155597 |
| 45 | LATS2 | 0.56872716 |
| 46 | CAMK1 | 0.56274258 |
| 47 | SGK223 | 0.52009699 |
| 48 | SGK494 | 0.52009699 |
| 49 | GSK3B | 0.51390864 |
| 50 | RIPK4 | 0.50725197 |
| 51 | MAP3K4 | 0.50011820 |
| 52 | MAP3K8 | 0.48608442 |
| 53 | CDK2 | 0.48357620 |
| 54 | CDK3 | 0.45901975 |
| 55 | CDK4 | 0.45218379 |
| 56 | LATS1 | 0.43592805 |
| 57 | MAPK8 | 0.43337718 |
| 58 | CDK1 | 0.42990367 |
| 59 | PRKCG | 0.42378302 |
| 60 | MAPK1 | 0.41233879 |
| 61 | NTRK3 | 0.41152993 |
| 62 | ACVR1B | 0.40613235 |
| 63 | RPS6KA6 | 0.39745377 |
| 64 | RPS6KC1 | 0.38549360 |
| 65 | RPS6KL1 | 0.38549360 |
| 66 | TESK2 | 0.37969003 |
| 67 | PRKCZ | 0.37948209 |
| 68 | CAMK4 | 0.37666544 |
| 69 | MTOR | 0.36367505 |
| 70 | MUSK | 0.34188268 |
| 71 | SGK1 | 0.33491468 |
| 72 | TYRO3 | 0.29488149 |
| 73 | OXSR1 | 0.29310439 |
| 74 | CHEK1 | 0.28275938 |
| 75 | PRKCB | 0.27270953 |
| 76 | MAPK14 | 0.27115152 |
| 77 | MAP3K1 | 0.26237154 |
| 78 | MINK1 | 0.26014574 |
| 79 | FER | 0.25760478 |
| 80 | TNIK | 0.25398646 |
| 81 | ADRBK2 | 0.25194413 |
| 82 | ZAK | 0.23675038 |
| 83 | MARK2 | 0.22945698 |
| 84 | ARAF | 0.21010369 |
| 85 | MAPK10 | 0.20777467 |
| 86 | PKN1 | 0.19765142 |
| 87 | MAPK11 | 0.18075920 |
| 88 | MET | 0.17711461 |
| 89 | DYRK2 | 0.17591453 |
| 90 | AKT1 | 0.17383463 |
| 91 | MAP2K7 | 0.16568589 |
| 92 | PRKAA1 | 0.15899242 |
| 93 | PRKCE | 0.15830691 |
| 94 | DYRK3 | 0.13696764 |
| 95 | MAPK13 | 0.12815125 |
| 96 | PRKACA | 0.12766916 |
| 97 | PINK1 | 0.12130948 |
| 98 | PRKACB | 0.10540290 |
| 99 | SGK2 | 0.10528523 |
| 100 | CAMK2A | 0.08784605 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 8.01965400 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 6.55416430 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.44204688 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.83034664 |
| 5 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.08792584 |
| 6 | Taste transduction_Homo sapiens_hsa04742 | 1.83122224 |
| 7 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.77742037 |
| 8 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.75416842 |
| 9 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.62001931 |
| 10 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.61683267 |
| 11 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.61019092 |
| 12 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.58687093 |
| 13 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.57893793 |
| 14 | Allograft rejection_Homo sapiens_hsa05330 | 1.50962945 |
| 15 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.46298635 |
| 16 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.46029276 |
| 17 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.40650512 |
| 18 | Phototransduction_Homo sapiens_hsa04744 | 1.38912010 |
| 19 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.35501768 |
| 20 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.27676564 |
| 21 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.27002567 |
| 22 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.24154344 |
| 23 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.22939595 |
| 24 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.17947142 |
| 25 | Morphine addiction_Homo sapiens_hsa05032 | 1.17289241 |
| 26 | RNA transport_Homo sapiens_hsa03013 | 1.14391853 |
| 27 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.10385793 |
| 28 | Endocytosis_Homo sapiens_hsa04144 | 1.08565986 |
| 29 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.08008199 |
| 30 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.07769694 |
| 31 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.06489818 |
| 32 | Salivary secretion_Homo sapiens_hsa04970 | 1.05193245 |
| 33 | Nicotine addiction_Homo sapiens_hsa05033 | 1.01395722 |
| 34 | Circadian entrainment_Homo sapiens_hsa04713 | 0.98328242 |
| 35 | Viral myocarditis_Homo sapiens_hsa05416 | 0.95477305 |
| 36 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.95285424 |
| 37 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.92887977 |
| 38 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.91902135 |
| 39 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.89854628 |
| 40 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.89747564 |
| 41 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.87021833 |
| 42 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.86212734 |
| 43 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.83865624 |
| 44 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.80174373 |
| 45 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.80046659 |
| 46 | ABC transporters_Homo sapiens_hsa02010 | 0.79564007 |
| 47 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.79490731 |
| 48 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.76861088 |
| 49 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.74530605 |
| 50 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.73693158 |
| 51 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.72768925 |
| 52 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.69728799 |
| 53 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.68524546 |
| 54 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.68212300 |
| 55 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.66598072 |
| 56 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.64451200 |
| 57 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.62297377 |
| 58 | Insulin secretion_Homo sapiens_hsa04911 | 0.61351723 |
| 59 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.60242483 |
| 60 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.60166558 |
| 61 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.58575801 |
| 62 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.58344944 |
| 63 | Purine metabolism_Homo sapiens_hsa00230 | 0.55393172 |
| 64 | GABAergic synapse_Homo sapiens_hsa04727 | 0.55252279 |
| 65 | Influenza A_Homo sapiens_hsa05164 | 0.52445112 |
| 66 | Retinol metabolism_Homo sapiens_hsa00830 | 0.52346409 |
| 67 | Tight junction_Homo sapiens_hsa04530 | 0.52201572 |
| 68 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.52016627 |
| 69 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.51440151 |
| 70 | Renin secretion_Homo sapiens_hsa04924 | 0.50220210 |
| 71 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.48991049 |
| 72 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.48617096 |
| 73 | Basal transcription factors_Homo sapiens_hsa03022 | 0.48203665 |
| 74 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.48103217 |
| 75 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.47107898 |
| 76 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.46546340 |
| 77 | Bile secretion_Homo sapiens_hsa04976 | 0.44021580 |
| 78 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.33614466 |
| 79 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.32630316 |
| 80 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.31817520 |
| 81 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.29539826 |
| 82 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.28891582 |
| 83 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.27096167 |
| 84 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.27009443 |
| 85 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.22972308 |
| 86 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.21901553 |
| 87 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.21108620 |
| 88 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.21002318 |
| 89 | Huntingtons disease_Homo sapiens_hsa05016 | 0.20283167 |
| 90 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.17645354 |
| 91 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.17412886 |
| 92 | Cocaine addiction_Homo sapiens_hsa05030 | 0.17371823 |
| 93 | Alcoholism_Homo sapiens_hsa05034 | 0.16934686 |
| 94 | Peroxisome_Homo sapiens_hsa04146 | 0.16894772 |
| 95 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.16682428 |
| 96 | Metabolic pathways_Homo sapiens_hsa01100 | 0.16548119 |
| 97 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.15244682 |
| 98 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.15130124 |
| 99 | Circadian rhythm_Homo sapiens_hsa04710 | 0.12115675 |
| 100 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.11517127 |

