

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | DNA packaging (GO:0006323) | 9.60289341 |
| 2 | response to pheromone (GO:0019236) | 9.47332368 |
| 3 | sperm capacitation (GO:0048240) | 9.42276592 |
| 4 | single strand break repair (GO:0000012) | 8.66192532 |
| 5 | spermatid nucleus differentiation (GO:0007289) | 8.55596264 |
| 6 | plasma membrane fusion (GO:0045026) | 8.52678472 |
| 7 | microtubule depolymerization (GO:0007019) | 8.46112695 |
| 8 | spermatid development (GO:0007286) | 8.08344548 |
| 9 | sperm-egg recognition (GO:0035036) | 7.62112310 |
| 10 | sexual reproduction (GO:0019953) | 7.30338436 |
| 11 | binding of sperm to zona pellucida (GO:0007339) | 7.19012019 |
| 12 | rRNA methylation (GO:0031167) | 7.12379537 |
| 13 | multicellular organism reproduction (GO:0032504) | 6.99907489 |
| 14 | microtubule polymerization or depolymerization (GO:0031109) | 6.87581975 |
| 15 | negative regulation of inclusion body assembly (GO:0090084) | 6.84511415 |
| 16 | reproduction (GO:0000003) | 6.83285130 |
| 17 | protein polyglutamylation (GO:0018095) | 6.64481494 |
| 18 | calcium ion-dependent exocytosis (GO:0017156) | 6.63237552 |
| 19 | protein targeting to Golgi (GO:0000042) | 6.51580785 |
| 20 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.32547103 |
| 21 | cell-cell recognition (GO:0009988) | 6.26249510 |
| 22 | establishment of protein localization to Golgi (GO:0072600) | 6.24845749 |
| 23 | spermatogenesis (GO:0007283) | 6.15011794 |
| 24 | axonemal dynein complex assembly (GO:0070286) | 6.13708896 |
| 25 | male gamete generation (GO:0048232) | 6.12920859 |
| 26 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 6.07617954 |
| 27 | rRNA modification (GO:0000154) | 5.98880010 |
| 28 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.81994665 |
| 29 | microtubule severing (GO:0051013) | 5.76479231 |
| 30 | cellular ketone body metabolic process (GO:0046950) | 5.75376567 |
| 31 | gamete generation (GO:0007276) | 5.60609917 |
| 32 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 5.60556073 |
| 33 | centriole replication (GO:0007099) | 5.25536388 |
| 34 | regulation of Rab GTPase activity (GO:0032313) | 5.19945473 |
| 35 | positive regulation of Rab GTPase activity (GO:0032851) | 5.19945473 |
| 36 | chromatin silencing (GO:0006342) | 5.09386120 |
| 37 | ketone body metabolic process (GO:1902224) | 5.06659292 |
| 38 | motile cilium assembly (GO:0044458) | 4.95328255 |
| 39 | single fertilization (GO:0007338) | 4.93185235 |
| 40 | regulation of cilium movement (GO:0003352) | 4.90793150 |
| 41 | regulation of inclusion body assembly (GO:0090083) | 4.89787244 |
| 42 | centriole assembly (GO:0098534) | 4.69940929 |
| 43 | protein localization to Golgi apparatus (GO:0034067) | 4.69427727 |
| 44 | germ cell development (GO:0007281) | 4.59062890 |
| 45 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.58085747 |
| 46 | RNA destabilization (GO:0050779) | 4.54272858 |
| 47 | multicellular organismal reproductive process (GO:0048609) | 4.49572774 |
| 48 | cell wall macromolecule catabolic process (GO:0016998) | 4.46156219 |
| 49 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.40252850 |
| 50 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.39236465 |
| 51 | regulation of centriole replication (GO:0046599) | 4.36388305 |
| 52 | nucleus organization (GO:0006997) | 4.35145622 |
| 53 | cell wall macromolecule metabolic process (GO:0044036) | 4.20339337 |
| 54 | fertilization (GO:0009566) | 4.05294270 |
| 55 | seminiferous tubule development (GO:0072520) | 4.04000857 |
| 56 | coenzyme catabolic process (GO:0009109) | 4.02171518 |
| 57 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.88065095 |
| 58 | glycerol ether metabolic process (GO:0006662) | 3.87648934 |
| 59 | epithelial cilium movement (GO:0003351) | 3.74311176 |
| 60 | musculoskeletal movement (GO:0050881) | 3.58506469 |
| 61 | multicellular organismal movement (GO:0050879) | 3.58506469 |
| 62 | protein-DNA complex disassembly (GO:0032986) | 3.57184832 |
| 63 | nucleosome disassembly (GO:0006337) | 3.57184832 |
| 64 | ether metabolic process (GO:0018904) | 3.56595360 |
| 65 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.53319811 |
| 66 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.49725795 |
| 67 | glomerular visceral epithelial cell development (GO:0072015) | 3.46429896 |
| 68 | organic cation transport (GO:0015695) | 3.44780925 |
| 69 | response to acidic pH (GO:0010447) | 3.39387490 |
| 70 | histone H3-K9 demethylation (GO:0033169) | 3.36899514 |
| 71 | polyamine biosynthetic process (GO:0006596) | 3.36248903 |
| 72 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.34827597 |
| 73 | glomerular epithelial cell development (GO:0072310) | 3.34738046 |
| 74 | cilium movement (GO:0003341) | 3.31815903 |
| 75 | regulation of interleukin-13 production (GO:0032656) | 3.29616348 |
| 76 | cerebral cortex neuron differentiation (GO:0021895) | 3.28289275 |
| 77 | regulation of microtubule-based movement (GO:0060632) | 3.26491609 |
| 78 | protein depolymerization (GO:0051261) | 3.23724451 |
| 79 | DNA conformation change (GO:0071103) | 3.21079817 |
| 80 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 3.20710375 |
| 81 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 3.20710375 |
| 82 | regulation of T-helper 2 cell differentiation (GO:0045628) | 3.19831147 |
| 83 | cellular response to pH (GO:0071467) | 3.19713193 |
| 84 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.14922421 |
| 85 | homeostasis of number of cells within a tissue (GO:0048873) | 3.11827032 |
| 86 | microtubule nucleation (GO:0007020) | 3.07603216 |
| 87 | cranial nerve morphogenesis (GO:0021602) | 3.06814159 |
| 88 | cell differentiation involved in metanephros development (GO:0072202) | 3.04071727 |
| 89 | multicellular organismal development (GO:0007275) | 3.00620630 |
| 90 | cell recognition (GO:0008037) | 2.99220884 |
| 91 | negative regulation of histone methylation (GO:0031061) | 2.95187368 |
| 92 | NAD biosynthetic process (GO:0009435) | 2.84838736 |
| 93 | regulation of somitogenesis (GO:0014807) | 2.81923603 |
| 94 | regulation of ARF GTPase activity (GO:0032312) | 2.80151838 |
| 95 | mitotic G1 DNA damage checkpoint (GO:0031571) | 2.79916579 |
| 96 | peptidyl-proline hydroxylation (GO:0019511) | 2.77381423 |
| 97 | acrosome reaction (GO:0007340) | 12.3706405 |
| 98 | sperm motility (GO:0030317) | 11.6880911 |
| 99 | fusion of sperm to egg plasma membrane (GO:0007342) | 11.2662048 |
| 100 | chromosome condensation (GO:0030261) | 10.0481069 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.90763186 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 4.17646182 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.95342808 |
| 4 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.35937564 |
| 5 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.35937564 |
| 6 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 2.32224449 |
| 7 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.13434141 |
| 8 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.09830454 |
| 9 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.09830454 |
| 10 | ERA_21632823_ChIP-Seq_H3396_Human | 2.09404775 |
| 11 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.08887903 |
| 12 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.00515381 |
| 13 | RAC3_21632823_ChIP-Seq_H3396_Human | 2.00352328 |
| 14 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.91963512 |
| 15 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.91685019 |
| 16 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.88841679 |
| 17 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.88746195 |
| 18 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.87984477 |
| 19 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.85924338 |
| 20 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.83598438 |
| 21 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.80599260 |
| 22 | * CTCF_27219007_Chip-Seq_Bcells_Human | 1.79791100 |
| 23 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.79031275 |
| 24 | P68_20966046_ChIP-Seq_HELA_Human | 1.75830214 |
| 25 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.74471458 |
| 26 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.73670047 |
| 27 | FUS_26573619_Chip-Seq_HEK293_Human | 1.70721640 |
| 28 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.69126817 |
| 29 | * E2F1_20622854_ChIP-Seq_HELA_Human | 1.68621665 |
| 30 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.68180891 |
| 31 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.66252206 |
| 32 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.64292187 |
| 33 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.60512955 |
| 34 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.57516602 |
| 35 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.56758531 |
| 36 | * PHF8_20622854_ChIP-Seq_HELA_Human | 1.55749170 |
| 37 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.55032429 |
| 38 | * TP63_22573176_ChIP-Seq_HFKS_Human | 1.54807125 |
| 39 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.51188830 |
| 40 | * CTCF_20526341_ChIP-Seq_ESCs_Human | 1.50342591 |
| 41 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.49800849 |
| 42 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.49097740 |
| 43 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.48026205 |
| 44 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.45965199 |
| 45 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.45377732 |
| 46 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.44691567 |
| 47 | P300_27268052_Chip-Seq_Bcells_Human | 1.42846041 |
| 48 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.40645442 |
| 49 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.38370733 |
| 50 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.36043986 |
| 51 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.35981645 |
| 52 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.34544728 |
| 53 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.33971229 |
| 54 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.33657116 |
| 55 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.31876977 |
| 56 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.31177745 |
| 57 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.30410596 |
| 58 | AR_25329375_ChIP-Seq_VCAP_Human | 1.29478317 |
| 59 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.29439888 |
| 60 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.27380840 |
| 61 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.26076903 |
| 62 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.25987570 |
| 63 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.24896978 |
| 64 | SA1_27219007_Chip-Seq_Bcells_Human | 1.24010234 |
| 65 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.23400862 |
| 66 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.22610517 |
| 67 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.22388612 |
| 68 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.21063150 |
| 69 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.20383731 |
| 70 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.19620093 |
| 71 | NFYB_21822215_ChIP-Seq_K562_Human | 1.15499779 |
| 72 | * GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.14988250 |
| 73 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.14772982 |
| 74 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.14462404 |
| 75 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.12897507 |
| 76 | TBL1_22424771_ChIP-Seq_293T_Human | 1.11539706 |
| 77 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.10595394 |
| 78 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.09188380 |
| 79 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.08216778 |
| 80 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.07956638 |
| 81 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.07789589 |
| 82 | RUNX1_27514584_Chip-Seq_MCF-7_Human | 1.07246594 |
| 83 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 1.07038610 |
| 84 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.06978499 |
| 85 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.06651520 |
| 86 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.06510529 |
| 87 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.03264580 |
| 88 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.02273135 |
| 89 | * SA1_27219007_Chip-Seq_ERYTHROID_Human | 1.01724446 |
| 90 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.01036445 |
| 91 | KLF5_25053715_ChIP-Seq_YYC3_Human | 1.00875822 |
| 92 | CSB_26484114_Chip-Seq_FIBROBLAST_Human | 1.00751835 |
| 93 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.00610624 |
| 94 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.00460217 |
| 95 | P300_19829295_ChIP-Seq_ESCs_Human | 1.00253988 |
| 96 | OCT4_19829295_ChIP-Seq_ESCs_Human | 0.99406479 |
| 97 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 0.98780550 |
| 98 | KLF4_19829295_ChIP-Seq_ESCs_Human | 0.97634099 |
| 99 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 0.97047742 |
| 100 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 0.96466142 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005377_hearing/vestibular/ear_phenot | 5.02945745 |
| 2 | MP0003878_abnormal_ear_physiology | 5.02945745 |
| 3 | MP0005670_abnormal_white_adipose | 4.61438450 |
| 4 | MP0003698_abnormal_male_reproductive | 4.50866558 |
| 5 | MP0001348_abnormal_lacrimal_gland | 3.89747411 |
| 6 | MP0001929_abnormal_gametogenesis | 3.89672965 |
| 7 | MP0000678_abnormal_parathyroid_gland | 2.76065588 |
| 8 | MP0002161_abnormal_fertility/fecundity | 2.53352697 |
| 9 | MP0003011_delayed_dark_adaptation | 2.35533471 |
| 10 | MP0003718_maternal_effect | 2.19712771 |
| 11 | MP0002132_abnormal_respiratory_system | 2.13682250 |
| 12 | MP0005410_abnormal_fertilization | 12.6461977 |
| 13 | MP0003646_muscle_fatigue | 1.91910395 |
| 14 | MP0002249_abnormal_larynx_morphology | 1.78101419 |
| 15 | MP0005423_abnormal_somatic_nervous | 1.75756539 |
| 16 | MP0005379_endocrine/exocrine_gland_phen | 1.74605946 |
| 17 | MP0002210_abnormal_sex_determination | 1.66160780 |
| 18 | MP0002234_abnormal_pharynx_morphology | 1.65899491 |
| 19 | MP0004510_myositis | 1.52552618 |
| 20 | MP0002282_abnormal_trachea_morphology | 1.47277723 |
| 21 | MP0005310_abnormal_salivary_gland | 1.46379100 |
| 22 | MP0009053_abnormal_anal_canal | 1.45631750 |
| 23 | MP0001145_abnormal_male_reproductive | 1.37353006 |
| 24 | MP0001486_abnormal_startle_reflex | 1.36757507 |
| 25 | MP0001485_abnormal_pinna_reflex | 1.32684542 |
| 26 | MP0000653_abnormal_sex_gland | 1.28916608 |
| 27 | MP0000534_abnormal_ureter_morphology | 1.25141078 |
| 28 | MP0004742_abnormal_vestibular_system | 1.22072679 |
| 29 | MP0001765_abnormal_ion_homeostasis | 1.19837993 |
| 30 | MP0002735_abnormal_chemical_nociception | 1.19634660 |
| 31 | MP0002138_abnormal_hepatobiliary_system | 1.17967520 |
| 32 | MP0001968_abnormal_touch/_nociception | 1.17755953 |
| 33 | MP0005451_abnormal_body_composition | 1.16589770 |
| 34 | MP0004859_abnormal_synaptic_plasticity | 1.16143734 |
| 35 | MP0005248_abnormal_Harderian_gland | 1.14183338 |
| 36 | MP0002127_abnormal_cardiovascular_syste | 1.13962154 |
| 37 | MP0003879_abnormal_hair_cell | 1.05728122 |
| 38 | MP0002822_catalepsy | 1.04814446 |
| 39 | MP0001963_abnormal_hearing_physiology | 1.03191670 |
| 40 | MP0005395_other_phenotype | 1.00514406 |
| 41 | MP0000026_abnormal_inner_ear | 0.94264347 |
| 42 | MP0000681_abnormal_thyroid_gland | 0.91116566 |
| 43 | MP0005666_abnormal_adipose_tissue | 0.85093498 |
| 44 | MP0002229_neurodegeneration | 0.82810671 |
| 45 | MP0009115_abnormal_fat_cell | 0.81185673 |
| 46 | MP0005083_abnormal_biliary_tract | 0.81015782 |
| 47 | MP0000955_abnormal_spinal_cord | 0.78827464 |
| 48 | MP0000049_abnormal_middle_ear | 0.76173894 |
| 49 | MP0000516_abnormal_urinary_system | 0.75671606 |
| 50 | MP0005367_renal/urinary_system_phenotyp | 0.75671606 |
| 51 | MP0002733_abnormal_thermal_nociception | 0.73418594 |
| 52 | MP0005375_adipose_tissue_phenotype | 0.73132657 |
| 53 | MP0008569_lethality_at_weaning | 0.68976548 |
| 54 | MP0002067_abnormal_sensory_capabilities | 0.66602201 |
| 55 | MP0005551_abnormal_eye_electrophysiolog | 0.65228351 |
| 56 | MP0004233_abnormal_muscle_weight | 0.63951685 |
| 57 | MP0004085_abnormal_heartbeat | 0.63846600 |
| 58 | MP0001879_abnormal_lymphatic_vessel | 0.63738235 |
| 59 | MP0000003_abnormal_adipose_tissue | 0.61320494 |
| 60 | MP0008877_abnormal_DNA_methylation | 0.61144569 |
| 61 | MP0005636_abnormal_mineral_homeostasis | 0.60262192 |
| 62 | MP0001666_abnormal_nutrient_absorption | 0.59609656 |
| 63 | MP0003077_abnormal_cell_cycle | 0.59455908 |
| 64 | MP0002557_abnormal_social/conspecific_i | 0.58555697 |
| 65 | MP0005623_abnormal_meninges_morphology | 0.55193894 |
| 66 | MP0005253_abnormal_eye_physiology | 0.54649514 |
| 67 | MP0005167_abnormal_blood-brain_barrier | 0.53861176 |
| 68 | MP0009697_abnormal_copulation | 0.50815717 |
| 69 | MP0008995_early_reproductive_senescence | 0.50718830 |
| 70 | MP0004484_altered_response_of | 0.49673246 |
| 71 | MP0002572_abnormal_emotion/affect_behav | 0.48344158 |
| 72 | MP0001905_abnormal_dopamine_level | 0.46664979 |
| 73 | MP0008961_abnormal_basal_metabolism | 0.46259919 |
| 74 | MP0005535_abnormal_body_temperature | 0.45425449 |
| 75 | MP0001970_abnormal_pain_threshold | 0.45244880 |
| 76 | MP0003091_abnormal_cell_migration | 0.44042445 |
| 77 | MP0003119_abnormal_digestive_system | 0.43575359 |
| 78 | MP0000470_abnormal_stomach_morphology | 0.43473187 |
| 79 | MP0003699_abnormal_female_reproductive | 0.42417342 |
| 80 | MP0002928_abnormal_bile_duct | 0.41983701 |
| 81 | MP0000249_abnormal_blood_vessel | 0.40262241 |
| 82 | MP0003137_abnormal_impulse_conducting | 0.39198545 |
| 83 | MP0002734_abnormal_mechanical_nocicepti | 0.37644370 |
| 84 | MP0000613_abnormal_salivary_gland | 0.37593668 |
| 85 | MP0002254_reproductive_system_inflammat | 0.37232981 |
| 86 | MP0003172_abnormal_lysosome_physiology | 0.36786019 |
| 87 | MP0002272_abnormal_nervous_system | 0.35882590 |
| 88 | MP0001270_distended_abdomen | 0.35456251 |
| 89 | MP0004036_abnormal_muscle_relaxation | 0.35139104 |
| 90 | MP0002653_abnormal_ependyma_morphology | 0.34013437 |
| 91 | MP0005408_hypopigmentation | 0.33702620 |
| 92 | MP0003936_abnormal_reproductive_system | 0.33062692 |
| 93 | MP0001440_abnormal_grooming_behavior | 0.32752030 |
| 94 | MP0001984_abnormal_olfaction | 0.32409857 |
| 95 | MP0000467_abnormal_esophagus_morphology | 0.32354250 |
| 96 | MP0000566_synostosis | 0.31897392 |
| 97 | MP0009745_abnormal_behavioral_response | 0.31427557 |
| 98 | MP0006292_abnormal_olfactory_placode | 0.31150366 |
| 99 | MP0001873_stomach_inflammation | 0.30299267 |
| 100 | MP0003942_abnormal_urinary_system | 0.29249296 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 8.65656677 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.95400664 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 5.95400664 |
| 4 | Asymmetric septal hypertrophy (HP:0001670) | 5.43620573 |
| 5 | Attenuation of retinal blood vessels (HP:0007843) | 5.33927437 |
| 6 | Bony spicule pigmentary retinopathy (HP:0007737) | 5.30874057 |
| 7 | Tubulointerstitial nephritis (HP:0001970) | 4.68270573 |
| 8 | Resting tremor (HP:0002322) | 4.59795199 |
| 9 | Abnormal ciliary motility (HP:0012262) | 4.53287845 |
| 10 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.48025808 |
| 11 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.42885263 |
| 12 | Bell-shaped thorax (HP:0001591) | 4.39674830 |
| 13 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.36189268 |
| 14 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.36189268 |
| 15 | Male infertility (HP:0003251) | 4.34002240 |
| 16 | Nasal polyposis (HP:0100582) | 4.32056379 |
| 17 | Hyperkalemia (HP:0002153) | 4.30481995 |
| 18 | Infertility (HP:0000789) | 4.24850805 |
| 19 | Chronic hepatic failure (HP:0100626) | 4.21891148 |
| 20 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.09949597 |
| 21 | Hypoplastic ischia (HP:0003175) | 4.00600806 |
| 22 | Facial shape deformation (HP:0011334) | 3.95245004 |
| 23 | Potter facies (HP:0002009) | 3.95245004 |
| 24 | Enlarged epiphyses (HP:0010580) | 3.92232482 |
| 25 | Abnormality of macular pigmentation (HP:0008002) | 3.88421450 |
| 26 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.67339518 |
| 27 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.64392361 |
| 28 | Cone-rod dystrophy (HP:0000548) | 3.58260277 |
| 29 | Abnormality of the ischium (HP:0003174) | 3.56414791 |
| 30 | Azoospermia (HP:0000027) | 3.51771124 |
| 31 | Abnormality of the nasal mucosa (HP:0000433) | 3.50162703 |
| 32 | Abnormal spermatogenesis (HP:0008669) | 3.45290256 |
| 33 | Impulsivity (HP:0100710) | 3.31401097 |
| 34 | Unilateral renal agenesis (HP:0000122) | 3.28889074 |
| 35 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 3.22285427 |
| 36 | Hypoplasia of the thymus (HP:0000778) | 3.13175012 |
| 37 | Progressive sensorineural hearing impairment (HP:0000408) | 3.07328628 |
| 38 | Congenital malformation of the right heart (HP:0011723) | 2.90860154 |
| 39 | Double outlet right ventricle (HP:0001719) | 2.90860154 |
| 40 | Postural instability (HP:0002172) | 2.87417834 |
| 41 | Abnormality of the aortic arch (HP:0012303) | 2.86391141 |
| 42 | Hypoalphalipoproteinemia (HP:0003233) | 2.84150821 |
| 43 | Abnormal urine output (HP:0012590) | 2.67446643 |
| 44 | Renal dysplasia (HP:0000110) | 2.65152852 |
| 45 | Generalized aminoaciduria (HP:0002909) | 2.64111627 |
| 46 | Truncal obesity (HP:0001956) | 2.62898207 |
| 47 | Stage 5 chronic kidney disease (HP:0003774) | 2.61837787 |
| 48 | Rhinitis (HP:0012384) | 2.55439969 |
| 49 | Abnormality of the costochondral junction (HP:0000919) | 2.50481348 |
| 50 | Amelogenesis imperfecta (HP:0000705) | 2.45787818 |
| 51 | Abnormality of potassium homeostasis (HP:0011042) | 2.45772240 |
| 52 | Progressive cerebellar ataxia (HP:0002073) | 2.41734434 |
| 53 | Abnormality of dental color (HP:0011073) | 2.40565021 |
| 54 | Flattened epiphyses (HP:0003071) | 2.39324377 |
| 55 | Abnormality of the parathyroid morphology (HP:0011766) | 2.38185354 |
| 56 | Renovascular hypertension (HP:0100817) | 2.37885205 |
| 57 | Nephronophthisis (HP:0000090) | 2.36571702 |
| 58 | Portal hypertension (HP:0001409) | 2.28861671 |
| 59 | Abnormality of renal excretion (HP:0011036) | 2.28348213 |
| 60 | Menstrual irregularities (HP:0000858) | 2.26225159 |
| 61 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.23442477 |
| 62 | Ventricular tachycardia (HP:0004756) | 2.23415321 |
| 63 | Epiphyseal dysplasia (HP:0002656) | 2.19251346 |
| 64 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 2.19030369 |
| 65 | Absent epiphyses (HP:0010577) | 2.19030369 |
| 66 | Abnormality of the hepatic vasculature (HP:0006707) | 2.14230497 |
| 67 | Polydipsia (HP:0001959) | 2.12633089 |
| 68 | Abnormal drinking behavior (HP:0030082) | 2.12633089 |
| 69 | Osteomalacia (HP:0002749) | 2.12284703 |
| 70 | Widely patent fontanelles and sutures (HP:0004492) | 2.12102668 |
| 71 | Tubulointerstitial abnormality (HP:0001969) | 2.11268405 |
| 72 | Hyponatremia (HP:0002902) | 2.10354898 |
| 73 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 2.08720829 |
| 74 | Polyuria (HP:0000103) | 2.06247799 |
| 75 | Hypophosphatemic rickets (HP:0004912) | 2.02302931 |
| 76 | Abnormality of the renal medulla (HP:0100957) | 2.01635866 |
| 77 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 2.01018629 |
| 78 | Focal segmental glomerulosclerosis (HP:0000097) | 2.00912806 |
| 79 | Progressive hearing impairment (HP:0001730) | 2.00156966 |
| 80 | Abnormality of the pubic bones (HP:0003172) | 1.99659829 |
| 81 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 1.95510603 |
| 82 | Abnormality of femoral epiphyses (HP:0006499) | 1.95510603 |
| 83 | Bronchiectasis (HP:0002110) | 1.95184378 |
| 84 | Spastic paraparesis (HP:0002313) | 1.94656384 |
| 85 | Hypoparathyroidism (HP:0000829) | 1.93085356 |
| 86 | Decreased central vision (HP:0007663) | 1.93070206 |
| 87 | Sensory axonal neuropathy (HP:0003390) | 1.92895274 |
| 88 | Tetany (HP:0001281) | 1.91170584 |
| 89 | Hyperthyroidism (HP:0000836) | 1.90571278 |
| 90 | Abnormal ventriculo-arterial connection (HP:0011563) | 1.89734544 |
| 91 | Transposition of the great arteries (HP:0001669) | 1.89734544 |
| 92 | Abnormal connection of the cardiac segments (HP:0011545) | 1.89734544 |
| 93 | Atelectasis (HP:0100750) | 1.85871324 |
| 94 | Abnormality of the femoral head (HP:0003368) | 1.85167231 |
| 95 | Chronic bronchitis (HP:0004469) | 1.83854077 |
| 96 | Bradycardia (HP:0001662) | 1.83350184 |
| 97 | Flat capital femoral epiphysis (HP:0003370) | 1.81005997 |
| 98 | Bowel incontinence (HP:0002607) | 1.78668610 |
| 99 | Recurrent pneumonia (HP:0006532) | 1.78494102 |
| 100 | Intellectual disability, moderate (HP:0002342) | 1.77407453 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 8.37806072 |
| 2 | TESK1 | 6.25142775 |
| 3 | DDR2 | 5.07898239 |
| 4 | INSRR | 3.91152913 |
| 5 | MAP4K2 | 3.80403331 |
| 6 | BRD4 | 3.24383164 |
| 7 | STK38 | 3.15721859 |
| 8 | PLK2 | 2.99349441 |
| 9 | PNCK | 2.69037126 |
| 10 | MAPK15 | 2.42430408 |
| 11 | CAMK1G | 2.31731492 |
| 12 | PRKD3 | 2.28181175 |
| 13 | STK38L | 2.06029785 |
| 14 | MST1R | 1.92843597 |
| 15 | WNK1 | 1.92419944 |
| 16 | CDK12 | 1.71361162 |
| 17 | PIK3CG | 1.70514462 |
| 18 | PDPK1 | 1.66723650 |
| 19 | PDK1 | 1.52684773 |
| 20 | DYRK1B | 1.40274077 |
| 21 | CDK7 | 1.38683191 |
| 22 | NEK6 | 1.24585250 |
| 23 | KSR2 | 1.19799204 |
| 24 | MAP3K9 | 1.13072382 |
| 25 | PTK2B | 1.04339478 |
| 26 | CAMK1D | 0.99489766 |
| 27 | LATS2 | 0.97192427 |
| 28 | AKT3 | 0.80377532 |
| 29 | MAP3K11 | 0.79110631 |
| 30 | SIK2 | 0.78990461 |
| 31 | UHMK1 | 0.76719196 |
| 32 | BRAF | 0.75548776 |
| 33 | RPS6KA2 | 0.73100790 |
| 34 | PRKAA2 | 0.70534247 |
| 35 | TYRO3 | 0.67607048 |
| 36 | PRKG2 | 0.66544109 |
| 37 | MAP2K2 | 0.65049479 |
| 38 | MAP3K2 | 0.64553909 |
| 39 | MAP3K8 | 0.62816746 |
| 40 | RPS6KA1 | 0.61805585 |
| 41 | PRKG1 | 0.61403863 |
| 42 | WNK4 | 0.61317304 |
| 43 | MUSK | 0.53637795 |
| 44 | CDK4 | 0.52908621 |
| 45 | ROCK1 | 0.49090164 |
| 46 | CAMK1 | 0.48946860 |
| 47 | CDK3 | 0.47936668 |
| 48 | CDK2 | 0.47408236 |
| 49 | MTOR | 0.47331385 |
| 50 | GSK3B | 0.47267721 |
| 51 | CDK1 | 0.43548218 |
| 52 | TESK2 | 0.43308873 |
| 53 | RPS6KL1 | 0.40899543 |
| 54 | RPS6KC1 | 0.40899543 |
| 55 | MAPK1 | 0.40880117 |
| 56 | LATS1 | 0.39333893 |
| 57 | ARAF | 0.39022413 |
| 58 | MAP3K1 | 0.37668364 |
| 59 | STK39 | 0.37511661 |
| 60 | RPS6KA6 | 0.36710228 |
| 61 | MAPK8 | 0.36634032 |
| 62 | CAMK4 | 0.36466442 |
| 63 | CHEK1 | 0.34934374 |
| 64 | SGK223 | 0.34130549 |
| 65 | SGK494 | 0.34130549 |
| 66 | MARK1 | 0.30525994 |
| 67 | PRKCZ | 0.29941176 |
| 68 | MARK2 | 0.29366101 |
| 69 | RIPK4 | 0.28774926 |
| 70 | BMPR1B | 0.28557955 |
| 71 | MET | 0.27391511 |
| 72 | MAPK11 | 0.27389068 |
| 73 | PRKCG | 0.27073859 |
| 74 | SGK1 | 0.26304656 |
| 75 | MAPK10 | 0.26030535 |
| 76 | BLK | 0.25876264 |
| 77 | MAPK14 | 0.25309965 |
| 78 | NTRK3 | 0.24815484 |
| 79 | BRSK1 | 0.23823750 |
| 80 | PRKCB | 0.20472368 |
| 81 | TIE1 | 0.19314856 |
| 82 | AKT1 | 0.18031805 |
| 83 | ICK | 0.16139768 |
| 84 | MAP3K4 | 0.15131445 |
| 85 | DYRK3 | 0.13151917 |
| 86 | PRKAA1 | 0.11718818 |
| 87 | CHUK | 0.10175402 |
| 88 | MAP3K7 | 0.09360199 |
| 89 | PKN1 | 0.08822040 |
| 90 | MAP3K13 | 0.08390936 |
| 91 | FER | 0.08175326 |
| 92 | IKBKB | 0.07925933 |
| 93 | MAPK9 | 0.07516693 |
| 94 | PRKACB | 0.06590419 |
| 95 | PRKACA | 0.04745682 |
| 96 | RPS6KA3 | 0.03909249 |
| 97 | OXSR1 | 0.03779308 |
| 98 | JAK3 | 0.01916354 |
| 99 | NEK2 | 0.01536483 |
| 100 | MAP2K1 | 0.00881086 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 8.16750386 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 5.98080953 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.60576321 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.63885436 |
| 5 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.02156088 |
| 6 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 2.00078122 |
| 7 | Allograft rejection_Homo sapiens_hsa05330 | 1.94442914 |
| 8 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.91916267 |
| 9 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.88146914 |
| 10 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.77468238 |
| 11 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.76605438 |
| 12 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.74306097 |
| 13 | Taste transduction_Homo sapiens_hsa04742 | 1.72864861 |
| 14 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.64985745 |
| 15 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.59421001 |
| 16 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.53395934 |
| 17 | RNA transport_Homo sapiens_hsa03013 | 1.50932552 |
| 18 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.47553190 |
| 19 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.44685820 |
| 20 | Viral myocarditis_Homo sapiens_hsa05416 | 1.41444047 |
| 21 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.39305270 |
| 22 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.32025036 |
| 23 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.29250912 |
| 24 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.24868883 |
| 25 | Endocytosis_Homo sapiens_hsa04144 | 1.19330817 |
| 26 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.19095033 |
| 27 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.16391895 |
| 28 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.98834840 |
| 29 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.98341180 |
| 30 | Salivary secretion_Homo sapiens_hsa04970 | 0.95210842 |
| 31 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.92913539 |
| 32 | Influenza A_Homo sapiens_hsa05164 | 0.91759971 |
| 33 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.91465142 |
| 34 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.87087817 |
| 35 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.86704001 |
| 36 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.85526779 |
| 37 | Phototransduction_Homo sapiens_hsa04744 | 0.83932045 |
| 38 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.80273364 |
| 39 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.80077968 |
| 40 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.78712260 |
| 41 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.78229402 |
| 42 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.75684689 |
| 43 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.74766490 |
| 44 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.71576381 |
| 45 | Morphine addiction_Homo sapiens_hsa05032 | 0.71318086 |
| 46 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.71201532 |
| 47 | ABC transporters_Homo sapiens_hsa02010 | 0.70067394 |
| 48 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.70055210 |
| 49 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.68680144 |
| 50 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.67034182 |
| 51 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.64822746 |
| 52 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.62228347 |
| 53 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.62159594 |
| 54 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.61361261 |
| 55 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.59343095 |
| 56 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.56988194 |
| 57 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.56454659 |
| 58 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.55792833 |
| 59 | Nicotine addiction_Homo sapiens_hsa05033 | 0.55763841 |
| 60 | Circadian entrainment_Homo sapiens_hsa04713 | 0.54375653 |
| 61 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.53022328 |
| 62 | Retinol metabolism_Homo sapiens_hsa00830 | 0.51807555 |
| 63 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.50621477 |
| 64 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.49734985 |
| 65 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.47900393 |
| 66 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.47806179 |
| 67 | Bile secretion_Homo sapiens_hsa04976 | 0.47414811 |
| 68 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.44915221 |
| 69 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.44094974 |
| 70 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.42818350 |
| 71 | Purine metabolism_Homo sapiens_hsa00230 | 0.40788124 |
| 72 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.40346208 |
| 73 | Insulin secretion_Homo sapiens_hsa04911 | 0.39761499 |
| 74 | Renin secretion_Homo sapiens_hsa04924 | 0.39301043 |
| 75 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.37759858 |
| 76 | Tight junction_Homo sapiens_hsa04530 | 0.37317276 |
| 77 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.36997223 |
| 78 | Basal transcription factors_Homo sapiens_hsa03022 | 0.35634178 |
| 79 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.32919184 |
| 80 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.31755559 |
| 81 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.31722886 |
| 82 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.30542149 |
| 83 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.29818718 |
| 84 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.27174388 |
| 85 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.26493040 |
| 86 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.25800310 |
| 87 | Long-term potentiation_Homo sapiens_hsa04720 | 0.25510589 |
| 88 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.22127739 |
| 89 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.22069318 |
| 90 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.20754195 |
| 91 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.19618909 |
| 92 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.18395660 |
| 93 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.18159593 |
| 94 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.17958148 |
| 95 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.17170456 |
| 96 | Legionellosis_Homo sapiens_hsa05134 | 0.16932542 |
| 97 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.15905482 |
| 98 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.14992254 |
| 99 | GABAergic synapse_Homo sapiens_hsa04727 | 0.14607663 |
| 100 | Adherens junction_Homo sapiens_hsa04520 | 0.13996558 |

