

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | response to pheromone (GO:0019236) | 8.97974174 |
| 2 | chromosome condensation (GO:0030261) | 8.81201327 |
| 3 | sperm capacitation (GO:0048240) | 8.73121495 |
| 4 | DNA packaging (GO:0006323) | 8.44388534 |
| 5 | plasma membrane fusion (GO:0045026) | 8.24383603 |
| 6 | single strand break repair (GO:0000012) | 8.04636113 |
| 7 | microtubule depolymerization (GO:0007019) | 7.52785088 |
| 8 | spermatid development (GO:0007286) | 7.44492676 |
| 9 | sperm-egg recognition (GO:0035036) | 7.40247123 |
| 10 | multicellular organism reproduction (GO:0032504) | 7.24344179 |
| 11 | spermatid nucleus differentiation (GO:0007289) | 7.23684858 |
| 12 | protein targeting to Golgi (GO:0000042) | 7.11826660 |
| 13 | rRNA methylation (GO:0031167) | 7.03189221 |
| 14 | establishment of protein localization to Golgi (GO:0072600) | 6.86511528 |
| 15 | binding of sperm to zona pellucida (GO:0007339) | 6.70358711 |
| 16 | reproduction (GO:0000003) | 6.68551150 |
| 17 | protein polyglutamylation (GO:0018095) | 6.60872623 |
| 18 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 6.57465255 |
| 19 | calcium ion-dependent exocytosis (GO:0017156) | 6.52496681 |
| 20 | microtubule polymerization or depolymerization (GO:0031109) | 6.21416775 |
| 21 | sexual reproduction (GO:0019953) | 6.11036896 |
| 22 | cell-cell recognition (GO:0009988) | 6.07803959 |
| 23 | rRNA modification (GO:0000154) | 6.03388748 |
| 24 | negative regulation of inclusion body assembly (GO:0090084) | 5.95563822 |
| 25 | spermatogenesis (GO:0007283) | 5.90325518 |
| 26 | male gamete generation (GO:0048232) | 5.88620320 |
| 27 | axonemal dynein complex assembly (GO:0070286) | 5.79254206 |
| 28 | gamete generation (GO:0007276) | 5.42767985 |
| 29 | cellular ketone body metabolic process (GO:0046950) | 5.36380954 |
| 30 | RNA destabilization (GO:0050779) | 5.34209885 |
| 31 | protein localization to Golgi apparatus (GO:0034067) | 5.28243740 |
| 32 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.28025081 |
| 33 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.04441578 |
| 34 | regulation of cilium movement (GO:0003352) | 4.87161557 |
| 35 | single fertilization (GO:0007338) | 4.86243689 |
| 36 | centriole replication (GO:0007099) | 4.83895506 |
| 37 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 4.83450321 |
| 38 | ketone body metabolic process (GO:1902224) | 4.71413418 |
| 39 | chromatin silencing (GO:0006342) | 4.67113289 |
| 40 | motile cilium assembly (GO:0044458) | 4.66161517 |
| 41 | microtubule severing (GO:0051013) | 4.63095423 |
| 42 | regulation of Rab GTPase activity (GO:0032313) | 4.56235387 |
| 43 | positive regulation of Rab GTPase activity (GO:0032851) | 4.56235387 |
| 44 | seminiferous tubule development (GO:0072520) | 4.47631339 |
| 45 | regulation of inclusion body assembly (GO:0090083) | 4.34255298 |
| 46 | germ cell development (GO:0007281) | 4.29931530 |
| 47 | multicellular organismal reproductive process (GO:0048609) | 4.29211603 |
| 48 | centriole assembly (GO:0098534) | 4.25263784 |
| 49 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.24510217 |
| 50 | regulation of centriole replication (GO:0046599) | 4.17876538 |
| 51 | fertilization (GO:0009566) | 4.08481339 |
| 52 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.07968670 |
| 53 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.05861413 |
| 54 | coenzyme catabolic process (GO:0009109) | 4.05361849 |
| 55 | epithelial cilium movement (GO:0003351) | 3.92237797 |
| 56 | cell wall macromolecule catabolic process (GO:0016998) | 3.87398115 |
| 57 | glycerol ether metabolic process (GO:0006662) | 3.83510338 |
| 58 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.81587658 |
| 59 | cell wall macromolecule metabolic process (GO:0044036) | 3.61877094 |
| 60 | regulation of microtubule-based movement (GO:0060632) | 3.57997882 |
| 61 | ether metabolic process (GO:0018904) | 3.54681672 |
| 62 | multicellular organismal movement (GO:0050879) | 3.48290297 |
| 63 | musculoskeletal movement (GO:0050881) | 3.48290297 |
| 64 | nucleus organization (GO:0006997) | 3.48006787 |
| 65 | organic cation transport (GO:0015695) | 3.44531774 |
| 66 | cilium movement (GO:0003341) | 3.43965555 |
| 67 | male meiosis I (GO:0007141) | 3.42347577 |
| 68 | glomerular visceral epithelial cell development (GO:0072015) | 3.36856918 |
| 69 | response to acidic pH (GO:0010447) | 3.33786339 |
| 70 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 3.32193358 |
| 71 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 3.32193358 |
| 72 | piRNA metabolic process (GO:0034587) | 3.30159399 |
| 73 | cerebral cortex neuron differentiation (GO:0021895) | 3.25813437 |
| 74 | glomerular epithelial cell development (GO:0072310) | 3.22550579 |
| 75 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.19309689 |
| 76 | microtubule nucleation (GO:0007020) | 3.13656078 |
| 77 | cell recognition (GO:0008037) | 3.13204128 |
| 78 | DNA methylation involved in gamete generation (GO:0043046) | 3.12413033 |
| 79 | histone H3-K9 demethylation (GO:0033169) | 3.11431704 |
| 80 | male meiosis (GO:0007140) | 3.03939757 |
| 81 | cell differentiation involved in metanephros development (GO:0072202) | 3.03654654 |
| 82 | cellular response to pH (GO:0071467) | 3.02090788 |
| 83 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 2.94866041 |
| 84 | peptidyl-proline hydroxylation (GO:0019511) | 2.93955472 |
| 85 | multicellular organismal development (GO:0007275) | 2.85395507 |
| 86 | regulation of inhibitory postsynaptic membrane potential (GO:0060080) | 2.82297255 |
| 87 | mitotic G1 DNA damage checkpoint (GO:0031571) | 2.77778723 |
| 88 | polyamine biosynthetic process (GO:0006596) | 2.71395263 |
| 89 | protein-DNA complex disassembly (GO:0032986) | 2.71212173 |
| 90 | nucleosome disassembly (GO:0006337) | 2.71212173 |
| 91 | protein depolymerization (GO:0051261) | 2.70426290 |
| 92 | axoneme assembly (GO:0035082) | 2.67991321 |
| 93 | intra-Golgi vesicle-mediated transport (GO:0006891) | 2.65183392 |
| 94 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 2.63895591 |
| 95 | spinal cord motor neuron differentiation (GO:0021522) | 2.63064193 |
| 96 | regulation of somitogenesis (GO:0014807) | 2.60677813 |
| 97 | receptor recycling (GO:0001881) | 2.59399016 |
| 98 | acrosome reaction (GO:0007340) | 11.4739848 |
| 99 | sperm motility (GO:0030317) | 11.0552662 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.8029793 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.76403040 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.88739048 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.64901053 |
| 4 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.42792584 |
| 5 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.41180075 |
| 6 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.16563568 |
| 7 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.16563568 |
| 8 | ERA_21632823_ChIP-Seq_H3396_Human | 2.13044734 |
| 9 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.11752652 |
| 10 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.05449867 |
| 11 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.99404474 |
| 12 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.95685783 |
| 13 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.95685783 |
| 14 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.87042428 |
| 15 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.85658214 |
| 16 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.84394800 |
| 17 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.82323754 |
| 18 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.79536491 |
| 19 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.78759237 |
| 20 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.76791303 |
| 21 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.76084874 |
| 22 | FUS_26573619_Chip-Seq_HEK293_Human | 1.75902981 |
| 23 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.74936562 |
| 24 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.74732406 |
| 25 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.70532935 |
| 26 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.70302515 |
| 27 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.66182971 |
| 28 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.62029400 |
| 29 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.60503655 |
| 30 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.60177012 |
| 31 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.59442333 |
| 32 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.57220479 |
| 33 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.57069265 |
| 34 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.56170186 |
| 35 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.52411726 |
| 36 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.52263053 |
| 37 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.52240523 |
| 38 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.51172105 |
| 39 | P68_20966046_ChIP-Seq_HELA_Human | 1.49844588 |
| 40 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.49492345 |
| 41 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.48303914 |
| 42 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.46402425 |
| 43 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.46186329 |
| 44 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.44589788 |
| 45 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.44209723 |
| 46 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.43314535 |
| 47 | AR_25329375_ChIP-Seq_VCAP_Human | 1.42922987 |
| 48 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.39946632 |
| 49 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.38858335 |
| 50 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.37211373 |
| 51 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.36205388 |
| 52 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.34958723 |
| 53 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.34610655 |
| 54 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.32719341 |
| 55 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.32406815 |
| 56 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.30696764 |
| 57 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.30621097 |
| 58 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.28769333 |
| 59 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.27894722 |
| 60 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.27724301 |
| 61 | P300_19829295_ChIP-Seq_ESCs_Human | 1.27611717 |
| 62 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.27318408 |
| 63 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.27097926 |
| 64 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.26905066 |
| 65 | VDR_22108803_ChIP-Seq_LS180_Human | 1.24916090 |
| 66 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 1.23854147 |
| 67 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.21450627 |
| 68 | TBL1_22424771_ChIP-Seq_293T_Human | 1.21433707 |
| 69 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.20879486 |
| 70 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.20800436 |
| 71 | NFYB_21822215_ChIP-Seq_K562_Human | 1.20613841 |
| 72 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.20377963 |
| 73 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.20250437 |
| 74 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.19129728 |
| 75 | P300_27268052_Chip-Seq_Bcells_Human | 1.17906250 |
| 76 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.14728974 |
| 77 | SA1_27219007_Chip-Seq_Bcells_Human | 1.14545665 |
| 78 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.14499258 |
| 79 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.14044652 |
| 80 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.12211447 |
| 81 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.11187401 |
| 82 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.10066190 |
| 83 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.10038723 |
| 84 | NCOR_22424771_ChIP-Seq_293T_Human | 1.08743989 |
| 85 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.08627410 |
| 86 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.08459462 |
| 87 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.07811996 |
| 88 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.07409262 |
| 89 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.07224679 |
| 90 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.06483905 |
| 91 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.05934293 |
| 92 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.05149558 |
| 93 | SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 1.04460263 |
| 94 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.03730730 |
| 95 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.02752994 |
| 96 | NFYA_21822215_ChIP-Seq_K562_Human | 1.02713060 |
| 97 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.02554841 |
| 98 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.01414250 |
| 99 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.00148881 |
| 100 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 0.99901221 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003878_abnormal_ear_physiology | 4.55057390 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 4.55057390 |
| 3 | MP0003698_abnormal_male_reproductive | 4.14406951 |
| 4 | MP0005670_abnormal_white_adipose | 3.84745867 |
| 5 | MP0001348_abnormal_lacrimal_gland | 3.61020519 |
| 6 | MP0001929_abnormal_gametogenesis | 3.56008253 |
| 7 | MP0005423_abnormal_somatic_nervous | 3.19165923 |
| 8 | MP0003011_delayed_dark_adaptation | 2.37651016 |
| 9 | MP0002161_abnormal_fertility/fecundity | 2.29269804 |
| 10 | MP0005379_endocrine/exocrine_gland_phen | 2.28374157 |
| 11 | MP0003718_maternal_effect | 2.14256815 |
| 12 | MP0000678_abnormal_parathyroid_gland | 2.13522561 |
| 13 | MP0003646_muscle_fatigue | 2.05505098 |
| 14 | MP0005410_abnormal_fertilization | 10.8808858 |
| 15 | MP0004859_abnormal_synaptic_plasticity | 1.98666310 |
| 16 | MP0002210_abnormal_sex_determination | 1.73995018 |
| 17 | MP0002132_abnormal_respiratory_system | 1.64552902 |
| 18 | MP0002735_abnormal_chemical_nociception | 1.63728391 |
| 19 | MP0008877_abnormal_DNA_methylation | 1.60222029 |
| 20 | MP0001486_abnormal_startle_reflex | 1.58666482 |
| 21 | MP0001968_abnormal_touch/_nociception | 1.57574626 |
| 22 | MP0003879_abnormal_hair_cell | 1.52461884 |
| 23 | MP0001485_abnormal_pinna_reflex | 1.50286833 |
| 24 | MP0004510_myositis | 1.45108322 |
| 25 | MP0001145_abnormal_male_reproductive | 1.40953005 |
| 26 | MP0005310_abnormal_salivary_gland | 1.38202837 |
| 27 | MP0002234_abnormal_pharynx_morphology | 1.36620103 |
| 28 | MP0004742_abnormal_vestibular_system | 1.34070490 |
| 29 | MP0000653_abnormal_sex_gland | 1.31114982 |
| 30 | MP0005551_abnormal_eye_electrophysiolog | 1.29591348 |
| 31 | MP0002249_abnormal_larynx_morphology | 1.25496802 |
| 32 | MP0002282_abnormal_trachea_morphology | 1.24854173 |
| 33 | MP0002733_abnormal_thermal_nociception | 1.19488381 |
| 34 | MP0001905_abnormal_dopamine_level | 1.13670764 |
| 35 | MP0001765_abnormal_ion_homeostasis | 1.13433497 |
| 36 | MP0001963_abnormal_hearing_physiology | 1.11565060 |
| 37 | MP0002653_abnormal_ependyma_morphology | 1.11364969 |
| 38 | MP0000026_abnormal_inner_ear | 1.08334743 |
| 39 | MP0009053_abnormal_anal_canal | 1.08108356 |
| 40 | MP0002272_abnormal_nervous_system | 1.06891995 |
| 41 | MP0002572_abnormal_emotion/affect_behav | 1.06561613 |
| 42 | MP0000955_abnormal_spinal_cord | 1.04504840 |
| 43 | MP0002127_abnormal_cardiovascular_syste | 1.02570977 |
| 44 | MP0002138_abnormal_hepatobiliary_system | 1.02111629 |
| 45 | MP0002229_neurodegeneration | 1.02040508 |
| 46 | MP0006292_abnormal_olfactory_placode | 0.97967941 |
| 47 | MP0001984_abnormal_olfaction | 0.97946999 |
| 48 | MP0002557_abnormal_social/conspecific_i | 0.97682055 |
| 49 | MP0002928_abnormal_bile_duct | 0.97560993 |
| 50 | MP0002067_abnormal_sensory_capabilities | 0.96475075 |
| 51 | MP0005084_abnormal_gallbladder_morpholo | 0.96265970 |
| 52 | MP0001970_abnormal_pain_threshold | 0.95524942 |
| 53 | MP0002734_abnormal_mechanical_nocicepti | 0.94027778 |
| 54 | MP0009745_abnormal_behavioral_response | 0.93047718 |
| 55 | MP0005645_abnormal_hypothalamus_physiol | 0.87012224 |
| 56 | MP0008789_abnormal_olfactory_epithelium | 0.84127900 |
| 57 | MP0006276_abnormal_autonomic_nervous | 0.82414511 |
| 58 | MP0001440_abnormal_grooming_behavior | 0.81989831 |
| 59 | MP0005395_other_phenotype | 0.81632165 |
| 60 | MP0000049_abnormal_middle_ear | 0.81602362 |
| 61 | MP0005248_abnormal_Harderian_gland | 0.80676511 |
| 62 | MP0000534_abnormal_ureter_morphology | 0.80155620 |
| 63 | MP0003635_abnormal_synaptic_transmissio | 0.79610184 |
| 64 | MP0001986_abnormal_taste_sensitivity | 0.77915808 |
| 65 | MP0003880_abnormal_central_pattern | 0.77706800 |
| 66 | MP0002822_catalepsy | 0.76076097 |
| 67 | MP0009115_abnormal_fat_cell | 0.73167972 |
| 68 | MP0005253_abnormal_eye_physiology | 0.71358153 |
| 69 | MP0000516_abnormal_urinary_system | 0.71103903 |
| 70 | MP0005367_renal/urinary_system_phenotyp | 0.71103903 |
| 71 | MP0000681_abnormal_thyroid_gland | 0.69427206 |
| 72 | MP0004085_abnormal_heartbeat | 0.68810164 |
| 73 | MP0005394_taste/olfaction_phenotype | 0.68190641 |
| 74 | MP0005499_abnormal_olfactory_system | 0.68190641 |
| 75 | MP0008569_lethality_at_weaning | 0.66358308 |
| 76 | MP0009046_muscle_twitch | 0.65546359 |
| 77 | MP0005647_abnormal_sex_gland | 0.64404010 |
| 78 | MP0002063_abnormal_learning/memory/cond | 0.62297602 |
| 79 | MP0008995_early_reproductive_senescence | 0.62020432 |
| 80 | MP0005636_abnormal_mineral_homeostasis | 0.61487756 |
| 81 | MP0003119_abnormal_digestive_system | 0.61257979 |
| 82 | MP0002882_abnormal_neuron_morphology | 0.60489806 |
| 83 | MP0005535_abnormal_body_temperature | 0.57725123 |
| 84 | MP0004133_heterotaxia | 0.55435114 |
| 85 | MP0001879_abnormal_lymphatic_vessel | 0.54249235 |
| 86 | MP0001501_abnormal_sleep_pattern | 0.54219864 |
| 87 | MP0003787_abnormal_imprinting | 0.54116718 |
| 88 | MP0005167_abnormal_blood-brain_barrier | 0.53827917 |
| 89 | MP0000470_abnormal_stomach_morphology | 0.52129504 |
| 90 | MP0002752_abnormal_somatic_nervous | 0.52086985 |
| 91 | MP0002064_seizures | 0.50416528 |
| 92 | MP0000230_abnormal_systemic_arterial | 0.50087739 |
| 93 | MP0003121_genomic_imprinting | 0.48582840 |
| 94 | MP0004270_analgesia | 0.48307368 |
| 95 | MP0004484_altered_response_of | 0.47055533 |
| 96 | MP0002160_abnormal_reproductive_system | 0.46636585 |
| 97 | MP0001666_abnormal_nutrient_absorption | 0.45223393 |
| 98 | MP0001293_anophthalmia | 0.45148871 |
| 99 | MP0005451_abnormal_body_composition | 0.44327432 |
| 100 | MP0003137_abnormal_impulse_conducting | 0.42666398 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 7.89215464 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 6.28806672 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.28806672 |
| 4 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.94883771 |
| 5 | Abnormal ciliary motility (HP:0012262) | 4.80443891 |
| 6 | Attenuation of retinal blood vessels (HP:0007843) | 4.74567100 |
| 7 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.60898553 |
| 8 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.55828220 |
| 9 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.55828220 |
| 10 | Chronic hepatic failure (HP:0100626) | 4.53380189 |
| 11 | Asymmetric septal hypertrophy (HP:0001670) | 4.53240640 |
| 12 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.52564439 |
| 13 | Male infertility (HP:0003251) | 4.37226345 |
| 14 | Tubulointerstitial nephritis (HP:0001970) | 4.21996794 |
| 15 | Infertility (HP:0000789) | 4.15993469 |
| 16 | Resting tremor (HP:0002322) | 4.02762161 |
| 17 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.97115357 |
| 18 | Abnormality of macular pigmentation (HP:0008002) | 3.91618266 |
| 19 | Nasal polyposis (HP:0100582) | 3.80680646 |
| 20 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.80594812 |
| 21 | Double outlet right ventricle (HP:0001719) | 3.54604433 |
| 22 | Congenital malformation of the right heart (HP:0011723) | 3.54604433 |
| 23 | Facial shape deformation (HP:0011334) | 3.51113345 |
| 24 | Potter facies (HP:0002009) | 3.51113345 |
| 25 | Hyperkalemia (HP:0002153) | 3.45191138 |
| 26 | Bell-shaped thorax (HP:0001591) | 3.42037554 |
| 27 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.33986948 |
| 28 | Hypoplastic ischia (HP:0003175) | 3.30206078 |
| 29 | Enlarged epiphyses (HP:0010580) | 3.22937675 |
| 30 | Azoospermia (HP:0000027) | 3.21250847 |
| 31 | Abnormality of the aortic arch (HP:0012303) | 3.12581469 |
| 32 | Myokymia (HP:0002411) | 3.08045304 |
| 33 | Abnormal spermatogenesis (HP:0008669) | 3.06901360 |
| 34 | Nephronophthisis (HP:0000090) | 3.01597570 |
| 35 | Abnormality of the nasal mucosa (HP:0000433) | 2.98019220 |
| 36 | Cone-rod dystrophy (HP:0000548) | 2.92887189 |
| 37 | Postural instability (HP:0002172) | 2.89760486 |
| 38 | Renal dysplasia (HP:0000110) | 2.87807403 |
| 39 | Abnormal urine output (HP:0012590) | 2.81888600 |
| 40 | Abnormality of the ischium (HP:0003174) | 2.81652134 |
| 41 | Hypoplasia of the thymus (HP:0000778) | 2.80756660 |
| 42 | Unilateral renal agenesis (HP:0000122) | 2.79934969 |
| 43 | Impulsivity (HP:0100710) | 2.76753441 |
| 44 | Rhinitis (HP:0012384) | 2.72389022 |
| 45 | Stage 5 chronic kidney disease (HP:0003774) | 2.71439030 |
| 46 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.67355504 |
| 47 | Polydipsia (HP:0001959) | 2.65532940 |
| 48 | Abnormal drinking behavior (HP:0030082) | 2.65532940 |
| 49 | Abnormality of the renal medulla (HP:0100957) | 2.57375680 |
| 50 | Progressive cerebellar ataxia (HP:0002073) | 2.56004631 |
| 51 | Truncal obesity (HP:0001956) | 2.55214364 |
| 52 | Abnormality of dental color (HP:0011073) | 2.54639677 |
| 53 | Abnormality of renal excretion (HP:0011036) | 2.54224616 |
| 54 | Osteomalacia (HP:0002749) | 2.51648727 |
| 55 | Progressive sensorineural hearing impairment (HP:0000408) | 2.50119675 |
| 56 | Amelogenesis imperfecta (HP:0000705) | 2.47495677 |
| 57 | Polyuria (HP:0000103) | 2.44038434 |
| 58 | Intellectual disability, moderate (HP:0002342) | 2.38784658 |
| 59 | Hyperthyroidism (HP:0000836) | 2.33552127 |
| 60 | Generalized aminoaciduria (HP:0002909) | 2.31401795 |
| 61 | Fetal akinesia sequence (HP:0001989) | 2.27343939 |
| 62 | Abnormality of the parathyroid morphology (HP:0011766) | 2.24335585 |
| 63 | Tubulointerstitial abnormality (HP:0001969) | 2.23285135 |
| 64 | Abnormality of potassium homeostasis (HP:0011042) | 2.17278650 |
| 65 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.14250385 |
| 66 | Portal hypertension (HP:0001409) | 2.08977681 |
| 67 | Glycosuria (HP:0003076) | 2.08805440 |
| 68 | Abnormality of urine glucose concentration (HP:0011016) | 2.08805440 |
| 69 | Muscle fiber atrophy (HP:0100295) | 2.05836635 |
| 70 | Renal Fanconi syndrome (HP:0001994) | 2.03089985 |
| 71 | Bronchiectasis (HP:0002110) | 2.01770584 |
| 72 | Decreased central vision (HP:0007663) | 2.01425586 |
| 73 | Pendular nystagmus (HP:0012043) | 1.96991776 |
| 74 | Tetany (HP:0001281) | 1.94637864 |
| 75 | Abnormality of the costochondral junction (HP:0000919) | 1.91686835 |
| 76 | Abnormality of the hepatic vasculature (HP:0006707) | 1.91363712 |
| 77 | Esotropia (HP:0000565) | 1.89148304 |
| 78 | Sensory axonal neuropathy (HP:0003390) | 1.87425403 |
| 79 | Focal segmental glomerulosclerosis (HP:0000097) | 1.86503147 |
| 80 | Hypoalphalipoproteinemia (HP:0003233) | 1.86236177 |
| 81 | Retinal atrophy (HP:0001105) | 1.86220215 |
| 82 | Hypophosphatemic rickets (HP:0004912) | 1.85673106 |
| 83 | Amblyopia (HP:0000646) | 1.84135000 |
| 84 | Tubular atrophy (HP:0000092) | 1.83637677 |
| 85 | Renovascular hypertension (HP:0100817) | 1.83235276 |
| 86 | Congenital stationary night blindness (HP:0007642) | 1.82271314 |
| 87 | Menstrual irregularities (HP:0000858) | 1.81156517 |
| 88 | Chronic bronchitis (HP:0004469) | 1.80601509 |
| 89 | Truncus arteriosus (HP:0001660) | 1.79531141 |
| 90 | Type 2 muscle fiber atrophy (HP:0003554) | 1.78684787 |
| 91 | Recurrent corneal erosions (HP:0000495) | 1.78308336 |
| 92 | Pancreatic fibrosis (HP:0100732) | 1.78274875 |
| 93 | Hyponatremia (HP:0002902) | 1.78030936 |
| 94 | Optic nerve hypoplasia (HP:0000609) | 1.77568213 |
| 95 | Epiphyseal dysplasia (HP:0002656) | 1.74053131 |
| 96 | Failure to thrive in infancy (HP:0001531) | 1.73245467 |
| 97 | Photophobia (HP:0000613) | 1.72995314 |
| 98 | Abnormal ventriculo-arterial connection (HP:0011563) | 1.72703720 |
| 99 | Transposition of the great arteries (HP:0001669) | 1.72703720 |
| 100 | Abnormal connection of the cardiac segments (HP:0011545) | 1.72703720 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 7.88861477 |
| 2 | TESK1 | 5.08001030 |
| 3 | DDR2 | 4.23258539 |
| 4 | INSRR | 4.22399033 |
| 5 | MAP4K2 | 3.66519878 |
| 6 | PNCK | 3.10819867 |
| 7 | PLK2 | 2.90684767 |
| 8 | PRKD3 | 2.65412976 |
| 9 | STK38 | 2.62282130 |
| 10 | BRD4 | 2.61723826 |
| 11 | PRPF4B | 2.52383912 |
| 12 | CAMK1G | 2.24692937 |
| 13 | MAPK15 | 2.03043830 |
| 14 | TAOK2 | 1.76765557 |
| 15 | STK38L | 1.73410392 |
| 16 | WNK1 | 1.72483536 |
| 17 | PDPK1 | 1.57659591 |
| 18 | MAP3K9 | 1.51094603 |
| 19 | PDK1 | 1.46510784 |
| 20 | MARK1 | 1.43031017 |
| 21 | PIK3CG | 1.40311057 |
| 22 | CDK19 | 1.38188913 |
| 23 | OXSR1 | 1.23051760 |
| 24 | TYRO3 | 1.12924827 |
| 25 | DYRK1B | 1.11490258 |
| 26 | CDK7 | 1.06650812 |
| 27 | PINK1 | 1.01448273 |
| 28 | PTK2B | 1.00635103 |
| 29 | RPS6KA2 | 0.99209007 |
| 30 | MST1R | 0.95264730 |
| 31 | CAMK1D | 0.93238038 |
| 32 | BMPR1B | 0.89849561 |
| 33 | NEK6 | 0.85731121 |
| 34 | SIK2 | 0.81787851 |
| 35 | SGK494 | 0.80584867 |
| 36 | SGK223 | 0.80584867 |
| 37 | PRKCG | 0.80526693 |
| 38 | WNK4 | 0.77834667 |
| 39 | CDK12 | 0.77732688 |
| 40 | FRK | 0.77470108 |
| 41 | KSR2 | 0.71157092 |
| 42 | PRKG1 | 0.69868451 |
| 43 | UHMK1 | 0.69411565 |
| 44 | NTRK3 | 0.66182641 |
| 45 | CAMK1 | 0.66039235 |
| 46 | PRKAA2 | 0.65785083 |
| 47 | RPS6KA1 | 0.63559849 |
| 48 | PRKG2 | 0.61265485 |
| 49 | DYRK2 | 0.60936480 |
| 50 | PKN1 | 0.60631196 |
| 51 | STK39 | 0.57600973 |
| 52 | LATS2 | 0.53906533 |
| 53 | TIE1 | 0.51174519 |
| 54 | PRKCZ | 0.51143999 |
| 55 | ABL2 | 0.48992840 |
| 56 | MUSK | 0.48506403 |
| 57 | MAPK13 | 0.47581977 |
| 58 | MAP3K11 | 0.47576059 |
| 59 | BRAF | 0.46958435 |
| 60 | SGK1 | 0.46474356 |
| 61 | CDK3 | 0.44336995 |
| 62 | MAP3K4 | 0.44323507 |
| 63 | CAMK4 | 0.44030665 |
| 64 | GSK3B | 0.42728390 |
| 65 | MAPK1 | 0.42103173 |
| 66 | AKT3 | 0.41730180 |
| 67 | MAP2K2 | 0.40484297 |
| 68 | GRK1 | 0.39083583 |
| 69 | ADRBK2 | 0.37717042 |
| 70 | RPS6KA6 | 0.37044061 |
| 71 | CDK2 | 0.36873547 |
| 72 | RPS6KL1 | 0.36292508 |
| 73 | RPS6KC1 | 0.36292508 |
| 74 | CDK1 | 0.35866102 |
| 75 | DYRK3 | 0.35765783 |
| 76 | PRKCH | 0.35664349 |
| 77 | MARK2 | 0.35042425 |
| 78 | WNK3 | 0.34955515 |
| 79 | PRKAA1 | 0.33278546 |
| 80 | CASK | 0.30056793 |
| 81 | PHKG2 | 0.29786833 |
| 82 | PHKG1 | 0.29786833 |
| 83 | MAP3K8 | 0.29288089 |
| 84 | CHEK1 | 0.27645034 |
| 85 | ROCK1 | 0.26980415 |
| 86 | MAPK8 | 0.25617836 |
| 87 | SGK2 | 0.24488846 |
| 88 | MAPK14 | 0.24486017 |
| 89 | MAP3K2 | 0.22745133 |
| 90 | FGFR2 | 0.22645162 |
| 91 | PRKCE | 0.22321130 |
| 92 | PRKCB | 0.22310268 |
| 93 | AKT1 | 0.21771499 |
| 94 | MINK1 | 0.21232097 |
| 95 | ZAK | 0.21185205 |
| 96 | STK11 | 0.20766819 |
| 97 | PRKACA | 0.19980343 |
| 98 | CDK8 | 0.18040383 |
| 99 | CSNK1A1 | 0.17600098 |
| 100 | CDK4 | 0.16071053 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 7.64171563 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 5.66002421 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.67955565 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.89548092 |
| 5 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 2.03299923 |
| 6 | Phototransduction_Homo sapiens_hsa04744 | 2.02750342 |
| 7 | Taste transduction_Homo sapiens_hsa04742 | 1.95967261 |
| 8 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.94132203 |
| 9 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.89446707 |
| 10 | Allograft rejection_Homo sapiens_hsa05330 | 1.60818000 |
| 11 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.59612218 |
| 12 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.59127231 |
| 13 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.58254380 |
| 14 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.51920007 |
| 15 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.49466393 |
| 16 | RNA transport_Homo sapiens_hsa03013 | 1.48860228 |
| 17 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.45465073 |
| 18 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.44487459 |
| 19 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.39902809 |
| 20 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.37703243 |
| 21 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.32632089 |
| 22 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.26625977 |
| 23 | Nicotine addiction_Homo sapiens_hsa05033 | 1.20962957 |
| 24 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.20762557 |
| 25 | Bile secretion_Homo sapiens_hsa04976 | 1.16130356 |
| 26 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.13252948 |
| 27 | Endocytosis_Homo sapiens_hsa04144 | 1.12277201 |
| 28 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.11047520 |
| 29 | Insulin secretion_Homo sapiens_hsa04911 | 1.10081338 |
| 30 | Morphine addiction_Homo sapiens_hsa05032 | 1.06045157 |
| 31 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.05149958 |
| 32 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.01862437 |
| 33 | Salivary secretion_Homo sapiens_hsa04970 | 0.95824480 |
| 34 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.93037981 |
| 35 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.92859621 |
| 36 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.92746331 |
| 37 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.92681408 |
| 38 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.91690904 |
| 39 | Viral myocarditis_Homo sapiens_hsa05416 | 0.90723243 |
| 40 | Sulfur relay system_Homo sapiens_hsa04122 | 0.87624497 |
| 41 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.87295760 |
| 42 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.85634702 |
| 43 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.85124862 |
| 44 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.84061214 |
| 45 | ABC transporters_Homo sapiens_hsa02010 | 0.83310178 |
| 46 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.82056174 |
| 47 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.81316382 |
| 48 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.79612839 |
| 49 | Circadian entrainment_Homo sapiens_hsa04713 | 0.78843817 |
| 50 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.77005198 |
| 51 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.76433532 |
| 52 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.75937245 |
| 53 | GABAergic synapse_Homo sapiens_hsa04727 | 0.75143189 |
| 54 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.73724686 |
| 55 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.70981549 |
| 56 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.70611802 |
| 57 | Basal transcription factors_Homo sapiens_hsa03022 | 0.70082900 |
| 58 | Retinol metabolism_Homo sapiens_hsa00830 | 0.67779411 |
| 59 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.64039388 |
| 60 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.63821306 |
| 61 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.62850775 |
| 62 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.59861270 |
| 63 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.57379052 |
| 64 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.57310893 |
| 65 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.56751956 |
| 66 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.54839327 |
| 67 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.54828962 |
| 68 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.53973416 |
| 69 | Peroxisome_Homo sapiens_hsa04146 | 0.52735584 |
| 70 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.50839126 |
| 71 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.50415175 |
| 72 | Renin secretion_Homo sapiens_hsa04924 | 0.49788963 |
| 73 | Huntingtons disease_Homo sapiens_hsa05016 | 0.48346593 |
| 74 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.48001245 |
| 75 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.46037330 |
| 76 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.45529032 |
| 77 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.45429065 |
| 78 | Influenza A_Homo sapiens_hsa05164 | 0.44331578 |
| 79 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.44283949 |
| 80 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.39557164 |
| 81 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.39150896 |
| 82 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.38426137 |
| 83 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.38037148 |
| 84 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.37428165 |
| 85 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.36134199 |
| 86 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.35974641 |
| 87 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.35141738 |
| 88 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.34859209 |
| 89 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.34766206 |
| 90 | Purine metabolism_Homo sapiens_hsa00230 | 0.34156922 |
| 91 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.34111955 |
| 92 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.33678698 |
| 93 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.33366101 |
| 94 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.29853577 |
| 95 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.27417071 |
| 96 | Metabolic pathways_Homo sapiens_hsa01100 | 0.26564626 |
| 97 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.24818280 |
| 98 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.24280725 |
| 99 | Tight junction_Homo sapiens_hsa04530 | 0.23528985 |
| 100 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.23458529 |

