

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | chromosome condensation (GO:0030261) | 9.48859207 |
| 2 | response to pheromone (GO:0019236) | 9.33612056 |
| 3 | DNA packaging (GO:0006323) | 9.06511047 |
| 4 | plasma membrane fusion (GO:0045026) | 9.03874922 |
| 5 | sperm capacitation (GO:0048240) | 8.95381300 |
| 6 | microtubule depolymerization (GO:0007019) | 8.66067487 |
| 7 | spermatid development (GO:0007286) | 8.02467024 |
| 8 | single strand break repair (GO:0000012) | 7.89363861 |
| 9 | sperm-egg recognition (GO:0035036) | 7.67349107 |
| 10 | spermatid nucleus differentiation (GO:0007289) | 7.65518727 |
| 11 | binding of sperm to zona pellucida (GO:0007339) | 7.22279317 |
| 12 | microtubule polymerization or depolymerization (GO:0031109) | 7.19823745 |
| 13 | multicellular organism reproduction (GO:0032504) | 6.97317124 |
| 14 | protein targeting to Golgi (GO:0000042) | 6.76320312 |
| 15 | rRNA methylation (GO:0031167) | 6.76028055 |
| 16 | calcium ion-dependent exocytosis (GO:0017156) | 6.72475369 |
| 17 | negative regulation of inclusion body assembly (GO:0090084) | 6.72436518 |
| 18 | reproduction (GO:0000003) | 6.58122014 |
| 19 | protein polyglutamylation (GO:0018095) | 6.57654121 |
| 20 | establishment of protein localization to Golgi (GO:0072600) | 6.51621233 |
| 21 | sexual reproduction (GO:0019953) | 6.42131390 |
| 22 | cell-cell recognition (GO:0009988) | 6.31481483 |
| 23 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 6.28294196 |
| 24 | * spermatogenesis (GO:0007283) | 6.12377374 |
| 25 | * male gamete generation (GO:0048232) | 6.10345498 |
| 26 | axonemal dynein complex assembly (GO:0070286) | 6.03386638 |
| 27 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.92238208 |
| 28 | centriole replication (GO:0007099) | 5.83636829 |
| 29 | rRNA modification (GO:0000154) | 5.65814527 |
| 30 | * gamete generation (GO:0007276) | 5.59570241 |
| 31 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 5.45435076 |
| 32 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.45229720 |
| 33 | microtubule severing (GO:0051013) | 5.42190013 |
| 34 | positive regulation of Rab GTPase activity (GO:0032851) | 5.33687697 |
| 35 | regulation of Rab GTPase activity (GO:0032313) | 5.33687697 |
| 36 | cellular ketone body metabolic process (GO:0046950) | 5.32915857 |
| 37 | centriole assembly (GO:0098534) | 5.15759706 |
| 38 | single fertilization (GO:0007338) | 4.96477725 |
| 39 | motile cilium assembly (GO:0044458) | 4.91005718 |
| 40 | regulation of cilium movement (GO:0003352) | 4.90584990 |
| 41 | protein localization to Golgi apparatus (GO:0034067) | 4.86624135 |
| 42 | regulation of centriole replication (GO:0046599) | 4.78070967 |
| 43 | regulation of inclusion body assembly (GO:0090083) | 4.72755393 |
| 44 | ketone body metabolic process (GO:1902224) | 4.69548069 |
| 45 | germ cell development (GO:0007281) | 4.64599607 |
| 46 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.62966396 |
| 47 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.58096875 |
| 48 | chromatin silencing (GO:0006342) | 4.52676376 |
| 49 | seminiferous tubule development (GO:0072520) | 4.47289335 |
| 50 | * multicellular organismal reproductive process (GO:0048609) | 4.46865886 |
| 51 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.43948100 |
| 52 | RNA destabilization (GO:0050779) | 4.40075995 |
| 53 | fertilization (GO:0009566) | 4.28226956 |
| 54 | cell wall macromolecule catabolic process (GO:0016998) | 4.24057434 |
| 55 | cell wall macromolecule metabolic process (GO:0044036) | 4.12227834 |
| 56 | coenzyme catabolic process (GO:0009109) | 4.11156491 |
| 57 | nucleus organization (GO:0006997) | 4.08622459 |
| 58 | glycerol ether metabolic process (GO:0006662) | 3.91544541 |
| 59 | epithelial cilium movement (GO:0003351) | 3.88856601 |
| 60 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.82116937 |
| 61 | histone H3-K9 demethylation (GO:0033169) | 3.73838299 |
| 62 | musculoskeletal movement (GO:0050881) | 3.70835951 |
| 63 | multicellular organismal movement (GO:0050879) | 3.70835951 |
| 64 | glomerular visceral epithelial cell development (GO:0072015) | 3.65133328 |
| 65 | ether metabolic process (GO:0018904) | 3.60811855 |
| 66 | glomerular epithelial cell development (GO:0072310) | 3.49228041 |
| 67 | male meiosis I (GO:0007141) | 3.44725116 |
| 68 | cilium movement (GO:0003341) | 3.44501072 |
| 69 | organic cation transport (GO:0015695) | 3.43853029 |
| 70 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.39483233 |
| 71 | protein depolymerization (GO:0051261) | 3.31811589 |
| 72 | response to acidic pH (GO:0010447) | 3.30774371 |
| 73 | microtubule nucleation (GO:0007020) | 3.30371326 |
| 74 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.27371335 |
| 75 | regulation of microtubule-based movement (GO:0060632) | 3.26873390 |
| 76 | cerebral cortex neuron differentiation (GO:0021895) | 3.26835235 |
| 77 | male meiosis (GO:0007140) | 3.20669987 |
| 78 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 3.17791642 |
| 79 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 3.17791642 |
| 80 | cellular response to pH (GO:0071467) | 3.17293901 |
| 81 | protein-DNA complex disassembly (GO:0032986) | 3.13647156 |
| 82 | nucleosome disassembly (GO:0006337) | 3.13647156 |
| 83 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.12121354 |
| 84 | piRNA metabolic process (GO:0034587) | 3.11429389 |
| 85 | regulation of interleukin-13 production (GO:0032656) | 3.08641689 |
| 86 | polyamine biosynthetic process (GO:0006596) | 3.08277665 |
| 87 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.07331050 |
| 88 | DNA methylation involved in gamete generation (GO:0043046) | 3.05334605 |
| 89 | cell recognition (GO:0008037) | 3.01900269 |
| 90 | regulation of T-helper 2 cell differentiation (GO:0045628) | 3.00962818 |
| 91 | cell differentiation involved in metanephros development (GO:0072202) | 2.98655347 |
| 92 | multicellular organismal development (GO:0007275) | 2.96766581 |
| 93 | homeostasis of number of cells within a tissue (GO:0048873) | 2.95689363 |
| 94 | DNA conformation change (GO:0071103) | 2.94387111 |
| 95 | NAD biosynthetic process (GO:0009435) | 2.88238068 |
| 96 | cranial nerve morphogenesis (GO:0021602) | 2.85289009 |
| 97 | Golgi to endosome transport (GO:0006895) | 2.83611195 |
| 98 | acrosome reaction (GO:0007340) | 12.2470774 |
| 99 | fusion of sperm to egg plasma membrane (GO:0007342) | 11.8995112 |
| 100 | sperm motility (GO:0030317) | 11.5228864 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.72373843 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.94562281 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.76431213 |
| 4 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.50006975 |
| 5 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.50006975 |
| 6 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.21623057 |
| 7 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.21623057 |
| 8 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.20454552 |
| 9 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.10273449 |
| 10 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 2.07830564 |
| 11 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.04686755 |
| 12 | ERA_21632823_ChIP-Seq_H3396_Human | 2.02234915 |
| 13 | FUS_26573619_Chip-Seq_HEK293_Human | 2.01084298 |
| 14 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.92712757 |
| 15 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.86121345 |
| 16 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.84172060 |
| 17 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.79487065 |
| 18 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.79340660 |
| 19 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.78938718 |
| 20 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.78620792 |
| 21 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.77492710 |
| 22 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.75750955 |
| 23 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.70728817 |
| 24 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.70267629 |
| 25 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.69513056 |
| 26 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.69063022 |
| 27 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.64015302 |
| 28 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.63813109 |
| 29 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.61684736 |
| 30 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.61382532 |
| 31 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.61158212 |
| 32 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.59340768 |
| 33 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.59188374 |
| 34 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.57279584 |
| 35 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.57040984 |
| 36 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.55936509 |
| 37 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.52672701 |
| 38 | P68_20966046_ChIP-Seq_HELA_Human | 1.49352635 |
| 39 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.49122342 |
| 40 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.48845136 |
| 41 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.48077526 |
| 42 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.47361065 |
| 43 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.47121657 |
| 44 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.45665346 |
| 45 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.44901413 |
| 46 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.43695471 |
| 47 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.41882201 |
| 48 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.40752839 |
| 49 | AR_25329375_ChIP-Seq_VCAP_Human | 1.40324867 |
| 50 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.39859692 |
| 51 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.36922348 |
| 52 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.34371368 |
| 53 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.34147423 |
| 54 | P300_27268052_Chip-Seq_Bcells_Human | 1.31748008 |
| 55 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.31343394 |
| 56 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.31257232 |
| 57 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.31156952 |
| 58 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.30004423 |
| 59 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.29909409 |
| 60 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.29117393 |
| 61 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.29089749 |
| 62 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.28799357 |
| 63 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.26653102 |
| 64 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.25427464 |
| 65 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.24395727 |
| 66 | NFYB_21822215_ChIP-Seq_K562_Human | 1.23888069 |
| 67 | P300_19829295_ChIP-Seq_ESCs_Human | 1.23551983 |
| 68 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.21015292 |
| 69 | TBL1_22424771_ChIP-Seq_293T_Human | 1.20616632 |
| 70 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.20320158 |
| 71 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.20224818 |
| 72 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.18918338 |
| 73 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.18761209 |
| 74 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.18338337 |
| 75 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.18250581 |
| 76 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.18194519 |
| 77 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.17784104 |
| 78 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.16114358 |
| 79 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.15793695 |
| 80 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.15635117 |
| 81 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.15584201 |
| 82 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.15488674 |
| 83 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.13375244 |
| 84 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.12132599 |
| 85 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.10478655 |
| 86 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.10333483 |
| 87 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.09688051 |
| 88 | SA1_27219007_Chip-Seq_Bcells_Human | 1.08351300 |
| 89 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.07106884 |
| 90 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.06132666 |
| 91 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.04343075 |
| 92 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.04343075 |
| 93 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.03076922 |
| 94 | NFYA_21822215_ChIP-Seq_K562_Human | 1.02063518 |
| 95 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.01735470 |
| 96 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.01169662 |
| 97 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.00054105 |
| 98 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 0.99966594 |
| 99 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 0.99746238 |
| 100 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 0.97131956 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003878_abnormal_ear_physiology | 5.20895593 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 5.20895593 |
| 3 | MP0003698_abnormal_male_reproductive | 4.57077382 |
| 4 | MP0005670_abnormal_white_adipose | 4.27364145 |
| 5 | MP0001929_abnormal_gametogenesis | 4.00942791 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.59038653 |
| 7 | MP0000678_abnormal_parathyroid_gland | 2.76350163 |
| 8 | MP0002161_abnormal_fertility/fecundity | 2.52629155 |
| 9 | MP0003718_maternal_effect | 2.27286304 |
| 10 | MP0003011_delayed_dark_adaptation | 2.24358967 |
| 11 | MP0002132_abnormal_respiratory_system | 2.11489480 |
| 12 | MP0003646_muscle_fatigue | 2.07615652 |
| 13 | MP0005410_abnormal_fertilization | 12.2450894 |
| 14 | MP0002210_abnormal_sex_determination | 1.92848509 |
| 15 | MP0005379_endocrine/exocrine_gland_phen | 1.78259371 |
| 16 | MP0005423_abnormal_somatic_nervous | 1.61103621 |
| 17 | MP0002249_abnormal_larynx_morphology | 1.60185405 |
| 18 | MP0004510_myositis | 1.59826594 |
| 19 | MP0002234_abnormal_pharynx_morphology | 1.57699564 |
| 20 | MP0001145_abnormal_male_reproductive | 1.57235718 |
| 21 | MP0001485_abnormal_pinna_reflex | 1.56370069 |
| 22 | MP0001486_abnormal_startle_reflex | 1.56215685 |
| 23 | MP0005310_abnormal_salivary_gland | 1.51237657 |
| 24 | MP0002282_abnormal_trachea_morphology | 1.49390371 |
| 25 | MP0000653_abnormal_sex_gland | 1.47391894 |
| 26 | MP0008877_abnormal_DNA_methylation | 1.38101085 |
| 27 | MP0009053_abnormal_anal_canal | 1.38087663 |
| 28 | MP0004742_abnormal_vestibular_system | 1.36945491 |
| 29 | MP0005451_abnormal_body_composition | 1.24814026 |
| 30 | MP0001765_abnormal_ion_homeostasis | 1.21582578 |
| 31 | MP0003879_abnormal_hair_cell | 1.18167152 |
| 32 | MP0001968_abnormal_touch/_nociception | 1.15510876 |
| 33 | MP0002138_abnormal_hepatobiliary_system | 1.14525101 |
| 34 | MP0004859_abnormal_synaptic_plasticity | 1.14081446 |
| 35 | MP0002735_abnormal_chemical_nociception | 1.12842615 |
| 36 | MP0001963_abnormal_hearing_physiology | 1.11848025 |
| 37 | MP0000534_abnormal_ureter_morphology | 1.09557714 |
| 38 | MP0005248_abnormal_Harderian_gland | 1.07058466 |
| 39 | MP0002127_abnormal_cardiovascular_syste | 1.07050333 |
| 40 | MP0002822_catalepsy | 1.05624206 |
| 41 | MP0005395_other_phenotype | 1.01244133 |
| 42 | MP0000026_abnormal_inner_ear | 0.99789817 |
| 43 | MP0002229_neurodegeneration | 0.82752712 |
| 44 | MP0000955_abnormal_spinal_cord | 0.82311379 |
| 45 | MP0000681_abnormal_thyroid_gland | 0.81298523 |
| 46 | MP0008995_early_reproductive_senescence | 0.80694519 |
| 47 | MP0002733_abnormal_thermal_nociception | 0.76772016 |
| 48 | MP0005551_abnormal_eye_electrophysiolog | 0.76478216 |
| 49 | MP0002067_abnormal_sensory_capabilities | 0.74981326 |
| 50 | MP0000049_abnormal_middle_ear | 0.74402949 |
| 51 | MP0004085_abnormal_heartbeat | 0.73774118 |
| 52 | MP0009115_abnormal_fat_cell | 0.72750782 |
| 53 | MP0005167_abnormal_blood-brain_barrier | 0.72363677 |
| 54 | MP0001984_abnormal_olfaction | 0.70068592 |
| 55 | MP0005666_abnormal_adipose_tissue | 0.69421848 |
| 56 | MP0008569_lethality_at_weaning | 0.68325673 |
| 57 | MP0005367_renal/urinary_system_phenotyp | 0.65081918 |
| 58 | MP0000516_abnormal_urinary_system | 0.65081918 |
| 59 | MP0009697_abnormal_copulation | 0.64968455 |
| 60 | MP0005083_abnormal_biliary_tract | 0.64022260 |
| 61 | MP0005636_abnormal_mineral_homeostasis | 0.63369784 |
| 62 | MP0005253_abnormal_eye_physiology | 0.63161529 |
| 63 | MP0001879_abnormal_lymphatic_vessel | 0.60770814 |
| 64 | MP0005375_adipose_tissue_phenotype | 0.58713134 |
| 65 | MP0002557_abnormal_social/conspecific_i | 0.58204750 |
| 66 | MP0004233_abnormal_muscle_weight | 0.58057022 |
| 67 | MP0002572_abnormal_emotion/affect_behav | 0.57150570 |
| 68 | MP0001905_abnormal_dopamine_level | 0.55938922 |
| 69 | MP0001666_abnormal_nutrient_absorption | 0.55594378 |
| 70 | MP0003119_abnormal_digestive_system | 0.53418704 |
| 71 | MP0004484_altered_response_of | 0.52976225 |
| 72 | MP0005623_abnormal_meninges_morphology | 0.52374201 |
| 73 | MP0003077_abnormal_cell_cycle | 0.52220758 |
| 74 | MP0001970_abnormal_pain_threshold | 0.51104759 |
| 75 | MP0000003_abnormal_adipose_tissue | 0.51033963 |
| 76 | MP0004036_abnormal_muscle_relaxation | 0.48266011 |
| 77 | MP0002653_abnormal_ependyma_morphology | 0.47355851 |
| 78 | MP0002272_abnormal_nervous_system | 0.47013168 |
| 79 | MP0001440_abnormal_grooming_behavior | 0.45847170 |
| 80 | MP0003699_abnormal_female_reproductive | 0.44622371 |
| 81 | MP0001501_abnormal_sleep_pattern | 0.44486587 |
| 82 | MP0003137_abnormal_impulse_conducting | 0.44338391 |
| 83 | MP0002734_abnormal_mechanical_nocicepti | 0.43419024 |
| 84 | MP0005535_abnormal_body_temperature | 0.42780244 |
| 85 | MP0009745_abnormal_behavioral_response | 0.41816751 |
| 86 | MP0000470_abnormal_stomach_morphology | 0.40109815 |
| 87 | MP0002928_abnormal_bile_duct | 0.39740879 |
| 88 | MP0003936_abnormal_reproductive_system | 0.39592867 |
| 89 | MP0000249_abnormal_blood_vessel | 0.38760629 |
| 90 | MP0003172_abnormal_lysosome_physiology | 0.37378534 |
| 91 | MP0000230_abnormal_systemic_arterial | 0.36936277 |
| 92 | MP0005647_abnormal_sex_gland | 0.36668617 |
| 93 | MP0008961_abnormal_basal_metabolism | 0.34782292 |
| 94 | MP0003880_abnormal_central_pattern | 0.34473549 |
| 95 | MP0008789_abnormal_olfactory_epithelium | 0.33817079 |
| 96 | MP0006292_abnormal_olfactory_placode | 0.33408308 |
| 97 | MP0003635_abnormal_synaptic_transmissio | 0.32610283 |
| 98 | MP0005408_hypopigmentation | 0.32531753 |
| 99 | MP0005391_vision/eye_phenotype | 0.28662320 |
| 100 | MP0002882_abnormal_neuron_morphology | 0.28662030 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 8.46554041 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 5.92046109 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.92046109 |
| 4 | Asymmetric septal hypertrophy (HP:0001670) | 5.63882440 |
| 5 | Attenuation of retinal blood vessels (HP:0007843) | 5.10839784 |
| 6 | Bony spicule pigmentary retinopathy (HP:0007737) | 5.10056263 |
| 7 | Tubulointerstitial nephritis (HP:0001970) | 4.94362483 |
| 8 | Resting tremor (HP:0002322) | 4.86114409 |
| 9 | Bell-shaped thorax (HP:0001591) | 4.68070825 |
| 10 | Abnormal ciliary motility (HP:0012262) | 4.55233571 |
| 11 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.47921628 |
| 12 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.41461598 |
| 13 | Hypoplastic ischia (HP:0003175) | 4.35904281 |
| 14 | Chronic hepatic failure (HP:0100626) | 4.33745684 |
| 15 | Male infertility (HP:0003251) | 4.33618576 |
| 16 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.19917100 |
| 17 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.19917100 |
| 18 | Infertility (HP:0000789) | 4.15067915 |
| 19 | Nasal polyposis (HP:0100582) | 4.10100758 |
| 20 | Enlarged epiphyses (HP:0010580) | 4.09052184 |
| 21 | Hyperkalemia (HP:0002153) | 4.08525888 |
| 22 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.04527016 |
| 23 | Abnormality of macular pigmentation (HP:0008002) | 3.94827022 |
| 24 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.93317739 |
| 25 | Abnormality of the ischium (HP:0003174) | 3.87384098 |
| 26 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.77858277 |
| 27 | Facial shape deformation (HP:0011334) | 3.74444289 |
| 28 | Potter facies (HP:0002009) | 3.74444289 |
| 29 | Azoospermia (HP:0000027) | 3.63848580 |
| 30 | Abnormal spermatogenesis (HP:0008669) | 3.60020454 |
| 31 | Cone-rod dystrophy (HP:0000548) | 3.58758902 |
| 32 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 3.43689187 |
| 33 | Abnormality of the nasal mucosa (HP:0000433) | 3.31419830 |
| 34 | Impulsivity (HP:0100710) | 3.24104473 |
| 35 | Hypoplasia of the thymus (HP:0000778) | 3.10829298 |
| 36 | Postural instability (HP:0002172) | 3.04099948 |
| 37 | Unilateral renal agenesis (HP:0000122) | 2.94779590 |
| 38 | Progressive sensorineural hearing impairment (HP:0000408) | 2.81956646 |
| 39 | Stage 5 chronic kidney disease (HP:0003774) | 2.79190058 |
| 40 | Nephronophthisis (HP:0000090) | 2.73305079 |
| 41 | Abnormal urine output (HP:0012590) | 2.68393936 |
| 42 | Generalized aminoaciduria (HP:0002909) | 2.63364390 |
| 43 | Hypoalphalipoproteinemia (HP:0003233) | 2.61417719 |
| 44 | Rhinitis (HP:0012384) | 2.60475413 |
| 45 | Double outlet right ventricle (HP:0001719) | 2.59184320 |
| 46 | Congenital malformation of the right heart (HP:0011723) | 2.59184320 |
| 47 | Truncal obesity (HP:0001956) | 2.57917017 |
| 48 | Progressive cerebellar ataxia (HP:0002073) | 2.53856235 |
| 49 | Abnormality of the aortic arch (HP:0012303) | 2.53708988 |
| 50 | Abnormality of dental color (HP:0011073) | 2.49914092 |
| 51 | Amelogenesis imperfecta (HP:0000705) | 2.49651410 |
| 52 | Flattened epiphyses (HP:0003071) | 2.49361920 |
| 53 | Abnormality of the costochondral junction (HP:0000919) | 2.49276023 |
| 54 | Epiphyseal dysplasia (HP:0002656) | 2.44514751 |
| 55 | Renal dysplasia (HP:0000110) | 2.43517843 |
| 56 | Abnormality of potassium homeostasis (HP:0011042) | 2.41749504 |
| 57 | Portal hypertension (HP:0001409) | 2.41646866 |
| 58 | Abnormality of the renal medulla (HP:0100957) | 2.35520563 |
| 59 | Menstrual irregularities (HP:0000858) | 2.34431227 |
| 60 | Tubulointerstitial abnormality (HP:0001969) | 2.34329686 |
| 61 | Abnormality of renal excretion (HP:0011036) | 2.33848195 |
| 62 | Absent epiphyses (HP:0010577) | 2.32535036 |
| 63 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 2.32535036 |
| 64 | Polydipsia (HP:0001959) | 2.30910694 |
| 65 | Abnormal drinking behavior (HP:0030082) | 2.30910694 |
| 66 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.28776744 |
| 67 | Osteomalacia (HP:0002749) | 2.24342659 |
| 68 | Ventricular tachycardia (HP:0004756) | 2.21913660 |
| 69 | Abnormality of the hepatic vasculature (HP:0006707) | 2.20645504 |
| 70 | Renovascular hypertension (HP:0100817) | 2.19523384 |
| 71 | Abnormality of the pubic bones (HP:0003172) | 2.13312759 |
| 72 | Polyuria (HP:0000103) | 2.12615576 |
| 73 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 2.12318621 |
| 74 | Intellectual disability, moderate (HP:0002342) | 2.07721746 |
| 75 | Horizontal nystagmus (HP:0000666) | 2.07614076 |
| 76 | Abnormality of the parathyroid morphology (HP:0011766) | 2.06326695 |
| 77 | Focal segmental glomerulosclerosis (HP:0000097) | 2.03540977 |
| 78 | Bronchiectasis (HP:0002110) | 2.01321537 |
| 79 | Abnormality of femoral epiphyses (HP:0006499) | 1.98361010 |
| 80 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 1.98361010 |
| 81 | Hyponatremia (HP:0002902) | 1.97278909 |
| 82 | Hypophosphatemic rickets (HP:0004912) | 1.96039447 |
| 83 | Decreased central vision (HP:0007663) | 1.95084898 |
| 84 | Widely patent fontanelles and sutures (HP:0004492) | 1.94632763 |
| 85 | Chronic bronchitis (HP:0004469) | 1.93232109 |
| 86 | Recurrent pneumonia (HP:0006532) | 1.91490044 |
| 87 | Abnormality of the femoral head (HP:0003368) | 1.87655969 |
| 88 | Protuberant abdomen (HP:0001538) | 1.86346104 |
| 89 | Progressive hearing impairment (HP:0001730) | 1.81677115 |
| 90 | Mixed hearing impairment (HP:0000410) | 1.80980200 |
| 91 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 1.80460712 |
| 92 | Flat capital femoral epiphysis (HP:0003370) | 1.80334008 |
| 93 | Short ribs (HP:0000773) | 1.79833226 |
| 94 | Bradycardia (HP:0001662) | 1.79722830 |
| 95 | Tetany (HP:0001281) | 1.77958790 |
| 96 | Recurrent corneal erosions (HP:0000495) | 1.77706586 |
| 97 | Optic nerve hypoplasia (HP:0000609) | 1.76794830 |
| 98 | Hyperuricemia (HP:0002149) | 1.75983536 |
| 99 | Increased purine levels (HP:0004368) | 1.75983536 |
| 100 | Spastic paraparesis (HP:0002313) | 1.75521601 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 8.80021622 |
| 2 | TESK1 | 5.65693735 |
| 3 | DDR2 | 5.28694791 |
| 4 | INSRR | 4.42438658 |
| 5 | MAP4K2 | 3.49098632 |
| 6 | PNCK | 3.42106599 |
| 7 | PLK2 | 3.35769429 |
| 8 | BRD4 | 3.16287371 |
| 9 | STK38 | 2.71652103 |
| 10 | CAMK1G | 2.35439510 |
| 11 | STK38L | 2.14224063 |
| 12 | MAPK15 | 2.06640566 |
| 13 | PIK3CG | 1.93470621 |
| 14 | PRKD3 | 1.88036342 |
| 15 | MST1R | 1.82026671 |
| 16 | WNK1 | 1.77630929 |
| 17 | PDPK1 | 1.51407582 |
| 18 | PDK1 | 1.45645763 |
| 19 | PTK2B | 1.44752114 |
| 20 | CDK12 | 1.38211936 |
| 21 | CDK7 | 1.30481772 |
| 22 | DYRK1B | 1.12075283 |
| 23 | MAP3K9 | 1.11992483 |
| 24 | NEK6 | 1.10959168 |
| 25 | KSR2 | 1.09103155 |
| 26 | TYRO3 | 0.84594459 |
| 27 | BRAF | 0.75745196 |
| 28 | CAMK1D | 0.73917159 |
| 29 | PRKG2 | 0.73737896 |
| 30 | AKT3 | 0.72455052 |
| 31 | LATS2 | 0.71341443 |
| 32 | UHMK1 | 0.69132052 |
| 33 | MET | 0.67574756 |
| 34 | RPS6KA2 | 0.65023720 |
| 35 | MAP3K11 | 0.62926766 |
| 36 | PRKG1 | 0.62501794 |
| 37 | PRKAA2 | 0.62279486 |
| 38 | MAP3K2 | 0.62217358 |
| 39 | MAP2K2 | 0.56181603 |
| 40 | CDK3 | 0.55819383 |
| 41 | RPS6KA1 | 0.54680425 |
| 42 | SIK2 | 0.53672806 |
| 43 | CAMK1 | 0.53578260 |
| 44 | ROCK1 | 0.53483758 |
| 45 | MAP3K8 | 0.47946915 |
| 46 | MUSK | 0.44676167 |
| 47 | CDK4 | 0.44580572 |
| 48 | ARAF | 0.43996653 |
| 49 | LATS1 | 0.42455108 |
| 50 | CDK2 | 0.40421713 |
| 51 | GSK3B | 0.39863689 |
| 52 | MAPK1 | 0.38653582 |
| 53 | CDK1 | 0.37377564 |
| 54 | PINK1 | 0.36761307 |
| 55 | TIE1 | 0.35167216 |
| 56 | RPS6KL1 | 0.34550960 |
| 57 | RPS6KC1 | 0.34550960 |
| 58 | SGK494 | 0.32676747 |
| 59 | SGK223 | 0.32676747 |
| 60 | PRKCG | 0.32360124 |
| 61 | STK39 | 0.32199372 |
| 62 | OXSR1 | 0.32142543 |
| 63 | WNK4 | 0.31256767 |
| 64 | RPS6KA6 | 0.31182787 |
| 65 | NTRK3 | 0.31125634 |
| 66 | CHEK1 | 0.30965234 |
| 67 | MTOR | 0.30629697 |
| 68 | CAMK4 | 0.29794272 |
| 69 | MARK1 | 0.29671667 |
| 70 | MAP3K1 | 0.28815697 |
| 71 | PRKCZ | 0.28376619 |
| 72 | MAPK8 | 0.27742409 |
| 73 | BMPR1B | 0.25639443 |
| 74 | SGK1 | 0.24988152 |
| 75 | BRSK1 | 0.23651073 |
| 76 | MAP3K4 | 0.22981119 |
| 77 | MARK2 | 0.21965150 |
| 78 | MAPK14 | 0.19544912 |
| 79 | PRKCB | 0.19229925 |
| 80 | MAPK10 | 0.19191986 |
| 81 | MAP3K13 | 0.19099111 |
| 82 | MAPK11 | 0.18072891 |
| 83 | TESK2 | 0.16868487 |
| 84 | CDK19 | 0.16241443 |
| 85 | PKN1 | 0.15267564 |
| 86 | BLK | 0.15140474 |
| 87 | AKT1 | 0.14165970 |
| 88 | JAK3 | 0.13773910 |
| 89 | FRK | 0.13748471 |
| 90 | DYRK3 | 0.12760422 |
| 91 | PRKACB | 0.06675768 |
| 92 | SGK2 | 0.05856897 |
| 93 | RIPK4 | 0.05732915 |
| 94 | MAPK9 | 0.05250892 |
| 95 | PRKAA1 | 0.04923296 |
| 96 | PRKACA | 0.04725659 |
| 97 | CAMK2A | 0.04382978 |
| 98 | MAP3K7 | 0.04152192 |
| 99 | IKBKB | 0.03842622 |
| 100 | RPS6KA3 | 0.03521813 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 7.68411143 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 5.62514109 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.92565759 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.58182161 |
| 5 | Allograft rejection_Homo sapiens_hsa05330 | 2.11589385 |
| 6 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 2.04711034 |
| 7 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 2.04354464 |
| 8 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.01988575 |
| 9 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.92640437 |
| 10 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.83502901 |
| 11 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.82957180 |
| 12 | Taste transduction_Homo sapiens_hsa04742 | 1.79272766 |
| 13 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.73598057 |
| 14 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.68087207 |
| 15 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.66414295 |
| 16 | RNA transport_Homo sapiens_hsa03013 | 1.65872175 |
| 17 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.64605078 |
| 18 | Viral myocarditis_Homo sapiens_hsa05416 | 1.51243687 |
| 19 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.43806477 |
| 20 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.25838659 |
| 21 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.24293103 |
| 22 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.21538503 |
| 23 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.19474075 |
| 24 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.18115310 |
| 25 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.17987316 |
| 26 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.17910770 |
| 27 | Endocytosis_Homo sapiens_hsa04144 | 1.09521109 |
| 28 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.05692991 |
| 29 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.05561489 |
| 30 | Salivary secretion_Homo sapiens_hsa04970 | 1.02238946 |
| 31 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.02003065 |
| 32 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.98309919 |
| 33 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.97658150 |
| 34 | Phototransduction_Homo sapiens_hsa04744 | 0.95581778 |
| 35 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.94141123 |
| 36 | Influenza A_Homo sapiens_hsa05164 | 0.93762854 |
| 37 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.89525245 |
| 38 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.88140228 |
| 39 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.82180281 |
| 40 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.79442934 |
| 41 | ABC transporters_Homo sapiens_hsa02010 | 0.78866373 |
| 42 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.78252084 |
| 43 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.77866338 |
| 44 | Morphine addiction_Homo sapiens_hsa05032 | 0.76716310 |
| 45 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.74681132 |
| 46 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.74533928 |
| 47 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.74113690 |
| 48 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.70784427 |
| 49 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.70418154 |
| 50 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.70085423 |
| 51 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.69921312 |
| 52 | Nicotine addiction_Homo sapiens_hsa05033 | 0.69666257 |
| 53 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.69003254 |
| 54 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.68639791 |
| 55 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.65955385 |
| 56 | Retinol metabolism_Homo sapiens_hsa00830 | 0.65758395 |
| 57 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.63848734 |
| 58 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.62597868 |
| 59 | Circadian entrainment_Homo sapiens_hsa04713 | 0.61879025 |
| 60 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.61717776 |
| 61 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.57618099 |
| 62 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.56814150 |
| 63 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.55145683 |
| 64 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.54104962 |
| 65 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.53198649 |
| 66 | Renin secretion_Homo sapiens_hsa04924 | 0.52432917 |
| 67 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.51833189 |
| 68 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.49794110 |
| 69 | Bile secretion_Homo sapiens_hsa04976 | 0.48552359 |
| 70 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.47109913 |
| 71 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.46857066 |
| 72 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.45701821 |
| 73 | Insulin secretion_Homo sapiens_hsa04911 | 0.44029355 |
| 74 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.41090708 |
| 75 | Purine metabolism_Homo sapiens_hsa00230 | 0.40893491 |
| 76 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.37661828 |
| 77 | Basal transcription factors_Homo sapiens_hsa03022 | 0.37204829 |
| 78 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.37097862 |
| 79 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.35192338 |
| 80 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.34715512 |
| 81 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.33462894 |
| 82 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.33089363 |
| 83 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.31488833 |
| 84 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.30859526 |
| 85 | Tight junction_Homo sapiens_hsa04530 | 0.30544596 |
| 86 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.29377653 |
| 87 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.28733529 |
| 88 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.28035294 |
| 89 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.27863457 |
| 90 | Long-term potentiation_Homo sapiens_hsa04720 | 0.27826299 |
| 91 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.27449705 |
| 92 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.26621606 |
| 93 | GABAergic synapse_Homo sapiens_hsa04727 | 0.22550854 |
| 94 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.20407993 |
| 95 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.18883924 |
| 96 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.18342227 |
| 97 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.17511200 |
| 98 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.15234519 |
| 99 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.14933277 |
| 100 | Sulfur relay system_Homo sapiens_hsa04122 | 0.13511548 |

