

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm capacitation (GO:0048240) | 9.00577978 |
| 2 | chromosome condensation (GO:0030261) | 8.47896961 |
| 3 | plasma membrane fusion (GO:0045026) | 8.27973356 |
| 4 | DNA packaging (GO:0006323) | 8.25418505 |
| 5 | protein targeting to Golgi (GO:0000042) | 8.03555644 |
| 6 | establishment of protein localization to Golgi (GO:0072600) | 7.89960108 |
| 7 | response to pheromone (GO:0019236) | 7.88882167 |
| 8 | microtubule depolymerization (GO:0007019) | 7.86395588 |
| 9 | spermatid development (GO:0007286) | 7.63793313 |
| 10 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 7.49872004 |
| 11 | single strand break repair (GO:0000012) | 7.27803586 |
| 12 | microtubule polymerization or depolymerization (GO:0031109) | 7.24876514 |
| 13 | protein polyglutamylation (GO:0018095) | 7.13100427 |
| 14 | multicellular organism reproduction (GO:0032504) | 7.12274814 |
| 15 | sperm-egg recognition (GO:0035036) | 7.11314246 |
| 16 | centriole replication (GO:0007099) | 7.04479194 |
| 17 | rRNA methylation (GO:0031167) | 6.83610049 |
| 18 | spermatid nucleus differentiation (GO:0007289) | 6.81256232 |
| 19 | reproduction (GO:0000003) | 6.46188904 |
| 20 | calcium ion-dependent exocytosis (GO:0017156) | 6.35917544 |
| 21 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.30749325 |
| 22 | spermatogenesis (GO:0007283) | 6.19975608 |
| 23 | male gamete generation (GO:0048232) | 6.18076007 |
| 24 | binding of sperm to zona pellucida (GO:0007339) | 6.12895518 |
| 25 | centriole assembly (GO:0098534) | 6.04893700 |
| 26 | axonemal dynein complex assembly (GO:0070286) | 6.02363472 |
| 27 | cell-cell recognition (GO:0009988) | 5.85771477 |
| 28 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.82349358 |
| 29 | rRNA modification (GO:0000154) | 5.74769164 |
| 30 | protein localization to Golgi apparatus (GO:0034067) | 5.73557308 |
| 31 | regulation of centriole replication (GO:0046599) | 5.66357713 |
| 32 | gamete generation (GO:0007276) | 5.66197504 |
| 33 | sexual reproduction (GO:0019953) | 5.59252206 |
| 34 | regulation of Rab GTPase activity (GO:0032313) | 5.50792737 |
| 35 | positive regulation of Rab GTPase activity (GO:0032851) | 5.50792737 |
| 36 | seminiferous tubule development (GO:0072520) | 5.50559427 |
| 37 | microtubule severing (GO:0051013) | 5.48522362 |
| 38 | negative regulation of inclusion body assembly (GO:0090084) | 5.40471027 |
| 39 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.28676974 |
| 40 | single fertilization (GO:0007338) | 5.13533283 |
| 41 | regulation of cilium movement (GO:0003352) | 4.96430776 |
| 42 | motile cilium assembly (GO:0044458) | 4.90854556 |
| 43 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.83571099 |
| 44 | RNA destabilization (GO:0050779) | 4.70141986 |
| 45 | musculoskeletal movement (GO:0050881) | 4.53494575 |
| 46 | multicellular organismal movement (GO:0050879) | 4.53494575 |
| 47 | multicellular organismal reproductive process (GO:0048609) | 4.52446829 |
| 48 | fertilization (GO:0009566) | 4.48184436 |
| 49 | cell wall macromolecule metabolic process (GO:0044036) | 4.43399215 |
| 50 | germ cell development (GO:0007281) | 4.38243948 |
| 51 | cellular ketone body metabolic process (GO:0046950) | 4.37563338 |
| 52 | epithelial cilium movement (GO:0003351) | 4.32971645 |
| 53 | cell wall macromolecule catabolic process (GO:0016998) | 4.26945912 |
| 54 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.23683760 |
| 55 | microtubule nucleation (GO:0007020) | 4.15343558 |
| 56 | glomerular visceral epithelial cell development (GO:0072015) | 4.01897098 |
| 57 | nucleus organization (GO:0006997) | 3.94445680 |
| 58 | chromatin silencing (GO:0006342) | 3.87247383 |
| 59 | cilium movement (GO:0003341) | 3.84397058 |
| 60 | Golgi to endosome transport (GO:0006895) | 3.83974974 |
| 61 | ketone body metabolic process (GO:1902224) | 3.83908982 |
| 62 | glomerular epithelial cell development (GO:0072310) | 3.76689141 |
| 63 | regulation of inclusion body assembly (GO:0090083) | 3.76408936 |
| 64 | organic cation transport (GO:0015695) | 3.74086896 |
| 65 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 3.62890226 |
| 66 | response to acidic pH (GO:0010447) | 3.30658720 |
| 67 | glycerol ether metabolic process (GO:0006662) | 3.28010865 |
| 68 | regulation of microtubule-based movement (GO:0060632) | 3.26888457 |
| 69 | cellular response to pH (GO:0071467) | 3.24523830 |
| 70 | coenzyme catabolic process (GO:0009109) | 3.22151608 |
| 71 | cerebral cortex neuron differentiation (GO:0021895) | 3.20404884 |
| 72 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.20032734 |
| 73 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.16066710 |
| 74 | histone H3-K9 demethylation (GO:0033169) | 3.13831787 |
| 75 | intra-Golgi vesicle-mediated transport (GO:0006891) | 3.05173035 |
| 76 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.04660864 |
| 77 | regulation of interleukin-13 production (GO:0032656) | 3.04181932 |
| 78 | homeostasis of number of cells within a tissue (GO:0048873) | 3.02893832 |
| 79 | ether metabolic process (GO:0018904) | 3.01542602 |
| 80 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 3.01143247 |
| 81 | nuclear pore complex assembly (GO:0051292) | 3.00006153 |
| 82 | peptidyl-threonine dephosphorylation (GO:0035970) | 2.98592938 |
| 83 | centrosome duplication (GO:0051298) | 2.98175477 |
| 84 | multicellular organismal development (GO:0007275) | 2.96416669 |
| 85 | protein depolymerization (GO:0051261) | 2.93960946 |
| 86 | polyamine biosynthetic process (GO:0006596) | 2.91380793 |
| 87 | positive regulation of guanylate cyclase activity (GO:0031284) | 2.89941924 |
| 88 | vesicle transport along microtubule (GO:0047496) | 2.85674379 |
| 89 | cell recognition (GO:0008037) | 2.83133209 |
| 90 | mitotic G1 DNA damage checkpoint (GO:0031571) | 2.82617042 |
| 91 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.81908127 |
| 92 | ventricular system development (GO:0021591) | 2.79686950 |
| 93 | regulation of guanylate cyclase activity (GO:0031282) | 2.79453316 |
| 94 | axoneme assembly (GO:0035082) | 2.77865936 |
| 95 | male meiosis I (GO:0007141) | 2.73849507 |
| 96 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 2.72932633 |
| 97 | protein-DNA complex disassembly (GO:0032986) | 2.69785217 |
| 98 | sperm motility (GO:0030317) | 11.8503742 |
| 99 | acrosome reaction (GO:0007340) | 11.0697054 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.9551580 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.87615679 |
| 2 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 3.82299195 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.14373963 |
| 4 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.63916975 |
| 5 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.50561572 |
| 6 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.50561572 |
| 7 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.42525210 |
| 8 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.32596378 |
| 9 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.32596378 |
| 10 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.32113261 |
| 11 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.22456783 |
| 12 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.19703447 |
| 13 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.08230304 |
| 14 | FUS_26573619_Chip-Seq_HEK293_Human | 2.07292926 |
| 15 | DROSHA_22980978_ChIP-Seq_HELA_Human | 2.04615066 |
| 16 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.80012224 |
| 17 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.77252342 |
| 18 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.76050140 |
| 19 | ERA_21632823_ChIP-Seq_H3396_Human | 1.74797044 |
| 20 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.73864645 |
| 21 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.72207859 |
| 22 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.66308581 |
| 23 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.66083402 |
| 24 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.62614208 |
| 25 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.62556604 |
| 26 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.61559201 |
| 27 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.60419055 |
| 28 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.60018389 |
| 29 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.56904857 |
| 30 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.55623453 |
| 31 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.50151349 |
| 32 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.49707040 |
| 33 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.49112269 |
| 34 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.48700907 |
| 35 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.48484924 |
| 36 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.46690561 |
| 37 | AR_25329375_ChIP-Seq_VCAP_Human | 1.46370040 |
| 38 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.45014710 |
| 39 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.44565787 |
| 40 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.42945158 |
| 41 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.42413180 |
| 42 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.42170298 |
| 43 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.41490814 |
| 44 | P300_19829295_ChIP-Seq_ESCs_Human | 1.41264492 |
| 45 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.41224818 |
| 46 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.40800132 |
| 47 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.39660278 |
| 48 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.39352598 |
| 49 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.37680041 |
| 50 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.36489877 |
| 51 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.35464350 |
| 52 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.35437737 |
| 53 | NFYB_21822215_ChIP-Seq_K562_Human | 1.33900059 |
| 54 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.33217842 |
| 55 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.32970072 |
| 56 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.32404117 |
| 57 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.32392108 |
| 58 | TBL1_22424771_ChIP-Seq_293T_Human | 1.29087252 |
| 59 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.28893348 |
| 60 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.28507302 |
| 61 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.27550920 |
| 62 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.25247591 |
| 63 | STAT3_23295773_ChIP-Seq_U87_Human | 1.25118022 |
| 64 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.24982785 |
| 65 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.23680198 |
| 66 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.23525437 |
| 67 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.22689551 |
| 68 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.22006374 |
| 69 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.22000502 |
| 70 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.21983398 |
| 71 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.21377924 |
| 72 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.20807123 |
| 73 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.19878239 |
| 74 | P68_20966046_ChIP-Seq_HELA_Human | 1.19089541 |
| 75 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.18787122 |
| 76 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.15197029 |
| 77 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.14213655 |
| 78 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.13824897 |
| 79 | P300_27268052_Chip-Seq_Bcells_Human | 1.13752304 |
| 80 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.12903159 |
| 81 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.12122881 |
| 82 | NFYA_21822215_ChIP-Seq_K562_Human | 1.11414908 |
| 83 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.11327565 |
| 84 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.09198432 |
| 85 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.09198432 |
| 86 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.08705077 |
| 87 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.07819313 |
| 88 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.07780259 |
| 89 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.07724315 |
| 90 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.07487937 |
| 91 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.07340479 |
| 92 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.07255914 |
| 93 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.07094573 |
| 94 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.05977527 |
| 95 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.04851560 |
| 96 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.03791562 |
| 97 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 1.02117155 |
| 98 | VDR_22108803_ChIP-Seq_LS180_Human | 1.01820424 |
| 99 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.01281666 |
| 100 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.00367595 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005377_hearing/vestibular/ear_phenot | 5.94564456 |
| 2 | MP0003878_abnormal_ear_physiology | 5.94564456 |
| 3 | MP0005670_abnormal_white_adipose | 4.71047059 |
| 4 | MP0003698_abnormal_male_reproductive | 4.23718175 |
| 5 | MP0001929_abnormal_gametogenesis | 3.68493119 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.53689937 |
| 7 | MP0002161_abnormal_fertility/fecundity | 2.31381299 |
| 8 | MP0003646_muscle_fatigue | 2.29321691 |
| 9 | MP0003718_maternal_effect | 2.25711618 |
| 10 | MP0005379_endocrine/exocrine_gland_phen | 2.02017575 |
| 11 | MP0005410_abnormal_fertilization | 11.6065813 |
| 12 | MP0000678_abnormal_parathyroid_gland | 1.97218539 |
| 13 | MP0001485_abnormal_pinna_reflex | 1.94827843 |
| 14 | MP0005451_abnormal_body_composition | 1.84457453 |
| 15 | MP0002822_catalepsy | 1.84376380 |
| 16 | MP0002132_abnormal_respiratory_system | 1.79588916 |
| 17 | MP0005310_abnormal_salivary_gland | 1.72170293 |
| 18 | MP0001486_abnormal_startle_reflex | 1.68281250 |
| 19 | MP0002210_abnormal_sex_determination | 1.66277183 |
| 20 | MP0003879_abnormal_hair_cell | 1.62279227 |
| 21 | MP0005423_abnormal_somatic_nervous | 1.48429753 |
| 22 | MP0003011_delayed_dark_adaptation | 1.34750889 |
| 23 | MP0001145_abnormal_male_reproductive | 1.32990831 |
| 24 | MP0004742_abnormal_vestibular_system | 1.29660520 |
| 25 | MP0002282_abnormal_trachea_morphology | 1.29182561 |
| 26 | MP0000653_abnormal_sex_gland | 1.28713403 |
| 27 | MP0004859_abnormal_synaptic_plasticity | 1.24384814 |
| 28 | MP0002234_abnormal_pharynx_morphology | 1.24145795 |
| 29 | MP0001968_abnormal_touch/_nociception | 1.21268385 |
| 30 | MP0002735_abnormal_chemical_nociception | 1.20084299 |
| 31 | MP0001963_abnormal_hearing_physiology | 1.19903178 |
| 32 | MP0009053_abnormal_anal_canal | 1.17270021 |
| 33 | MP0005551_abnormal_eye_electrophysiolog | 1.13617881 |
| 34 | MP0001765_abnormal_ion_homeostasis | 1.12875134 |
| 35 | MP0002138_abnormal_hepatobiliary_system | 1.10136624 |
| 36 | MP0002249_abnormal_larynx_morphology | 1.09918143 |
| 37 | MP0009697_abnormal_copulation | 1.04321746 |
| 38 | MP0009115_abnormal_fat_cell | 1.01280299 |
| 39 | MP0005395_other_phenotype | 0.99575597 |
| 40 | MP0002127_abnormal_cardiovascular_syste | 0.96868194 |
| 41 | MP0000026_abnormal_inner_ear | 0.96487727 |
| 42 | MP0005253_abnormal_eye_physiology | 0.96216804 |
| 43 | MP0004510_myositis | 0.93809215 |
| 44 | MP0002229_neurodegeneration | 0.91725506 |
| 45 | MP0000534_abnormal_ureter_morphology | 0.91441412 |
| 46 | MP0005167_abnormal_blood-brain_barrier | 0.90040881 |
| 47 | MP0008877_abnormal_DNA_methylation | 0.87566551 |
| 48 | MP0002067_abnormal_sensory_capabilities | 0.85815989 |
| 49 | MP0001984_abnormal_olfaction | 0.85047867 |
| 50 | MP0005666_abnormal_adipose_tissue | 0.83300223 |
| 51 | MP0000955_abnormal_spinal_cord | 0.83055472 |
| 52 | MP0001905_abnormal_dopamine_level | 0.82728147 |
| 53 | MP0001501_abnormal_sleep_pattern | 0.80206844 |
| 54 | MP0008569_lethality_at_weaning | 0.78287842 |
| 55 | MP0002733_abnormal_thermal_nociception | 0.73559469 |
| 56 | MP0005248_abnormal_Harderian_gland | 0.73144895 |
| 57 | MP0004085_abnormal_heartbeat | 0.71450174 |
| 58 | MP0002572_abnormal_emotion/affect_behav | 0.70797072 |
| 59 | MP0002557_abnormal_social/conspecific_i | 0.70183531 |
| 60 | MP0009745_abnormal_behavioral_response | 0.67759947 |
| 61 | MP0004036_abnormal_muscle_relaxation | 0.67253735 |
| 62 | MP0001666_abnormal_nutrient_absorption | 0.66665583 |
| 63 | MP0005375_adipose_tissue_phenotype | 0.62921326 |
| 64 | MP0000230_abnormal_systemic_arterial | 0.61687357 |
| 65 | MP0004084_abnormal_cardiac_muscle | 0.58651964 |
| 66 | MP0001440_abnormal_grooming_behavior | 0.58144106 |
| 67 | MP0005636_abnormal_mineral_homeostasis | 0.56825608 |
| 68 | MP0004233_abnormal_muscle_weight | 0.55725889 |
| 69 | MP0002272_abnormal_nervous_system | 0.53904050 |
| 70 | MP0005083_abnormal_biliary_tract | 0.52961814 |
| 71 | MP0000681_abnormal_thyroid_gland | 0.52722464 |
| 72 | MP0003950_abnormal_plasma_membrane | 0.52698712 |
| 73 | MP0001970_abnormal_pain_threshold | 0.52483880 |
| 74 | MP0005535_abnormal_body_temperature | 0.51804715 |
| 75 | MP0008961_abnormal_basal_metabolism | 0.51351887 |
| 76 | MP0004484_altered_response_of | 0.49849613 |
| 77 | MP0002734_abnormal_mechanical_nocicepti | 0.49843667 |
| 78 | MP0003631_nervous_system_phenotype | 0.49827616 |
| 79 | MP0010329_abnormal_lipoprotein_level | 0.48418272 |
| 80 | MP0003137_abnormal_impulse_conducting | 0.46577295 |
| 81 | MP0000003_abnormal_adipose_tissue | 0.45401693 |
| 82 | MP0009764_decreased_sensitivity_to | 0.43180172 |
| 83 | MP0000249_abnormal_blood_vessel | 0.43140849 |
| 84 | MP0003635_abnormal_synaptic_transmissio | 0.42521230 |
| 85 | MP0000049_abnormal_middle_ear | 0.42386701 |
| 86 | MP0003077_abnormal_cell_cycle | 0.41896763 |
| 87 | MP0003633_abnormal_nervous_system | 0.41260474 |
| 88 | MP0003632_abnormal_nervous_system | 0.41145846 |
| 89 | MP0001545_abnormal_hematopoietic_system | 0.40876952 |
| 90 | MP0005397_hematopoietic_system_phenotyp | 0.40876952 |
| 91 | MP0005595_abnormal_vascular_smooth | 0.39457640 |
| 92 | MP0001879_abnormal_lymphatic_vessel | 0.39430037 |
| 93 | MP0005391_vision/eye_phenotype | 0.38750589 |
| 94 | MP0005332_abnormal_amino_acid | 0.38480581 |
| 95 | MP0008995_early_reproductive_senescence | 0.34352352 |
| 96 | MP0000470_abnormal_stomach_morphology | 0.34264039 |
| 97 | MP0005367_renal/urinary_system_phenotyp | 0.33733197 |
| 98 | MP0000516_abnormal_urinary_system | 0.33733197 |
| 99 | MP0009046_muscle_twitch | 0.33672134 |
| 100 | MP0002928_abnormal_bile_duct | 0.33558132 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 7.14141927 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 5.96208743 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.96208743 |
| 4 | Asymmetric septal hypertrophy (HP:0001670) | 5.95230232 |
| 5 | Tubulointerstitial nephritis (HP:0001970) | 5.80610996 |
| 6 | Chronic hepatic failure (HP:0100626) | 5.57564759 |
| 7 | Attenuation of retinal blood vessels (HP:0007843) | 4.80453887 |
| 8 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.74398572 |
| 9 | Abnormal ciliary motility (HP:0012262) | 4.63078255 |
| 10 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.56384421 |
| 11 | Hyperkalemia (HP:0002153) | 4.48831610 |
| 12 | Male infertility (HP:0003251) | 4.47339818 |
| 13 | Resting tremor (HP:0002322) | 4.46633192 |
| 14 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.30958489 |
| 15 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.20379642 |
| 16 | Cone-rod dystrophy (HP:0000548) | 4.17405327 |
| 17 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.16538152 |
| 18 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.16538152 |
| 19 | Bell-shaped thorax (HP:0001591) | 4.15624818 |
| 20 | Abnormality of macular pigmentation (HP:0008002) | 4.11363067 |
| 21 | Infertility (HP:0000789) | 4.01603320 |
| 22 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.94848195 |
| 23 | Nasal polyposis (HP:0100582) | 3.89089105 |
| 24 | Impulsivity (HP:0100710) | 3.84533604 |
| 25 | Facial shape deformation (HP:0011334) | 3.71758763 |
| 26 | Potter facies (HP:0002009) | 3.71758763 |
| 27 | Hypoplastic ischia (HP:0003175) | 3.61962851 |
| 28 | Enlarged epiphyses (HP:0010580) | 3.61955608 |
| 29 | Hypoplasia of the thymus (HP:0000778) | 3.52925794 |
| 30 | Postural instability (HP:0002172) | 3.49907183 |
| 31 | Hypoalphalipoproteinemia (HP:0003233) | 3.33268318 |
| 32 | Progressive cerebellar ataxia (HP:0002073) | 3.32935430 |
| 33 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.30553604 |
| 34 | Abnormality of the ischium (HP:0003174) | 3.26322535 |
| 35 | Amelogenesis imperfecta (HP:0000705) | 3.24544567 |
| 36 | Menstrual irregularities (HP:0000858) | 3.12416260 |
| 37 | Abnormality of the nasal mucosa (HP:0000433) | 3.10605957 |
| 38 | Portal hypertension (HP:0001409) | 3.08969555 |
| 39 | Nephronophthisis (HP:0000090) | 3.05227956 |
| 40 | Progressive sensorineural hearing impairment (HP:0000408) | 3.04006001 |
| 41 | Abnormality of dental color (HP:0011073) | 3.02327069 |
| 42 | Tubulointerstitial abnormality (HP:0001969) | 2.87399792 |
| 43 | Truncal obesity (HP:0001956) | 2.86982765 |
| 44 | Abnormal spermatogenesis (HP:0008669) | 2.84425712 |
| 45 | Abnormality of the hepatic vasculature (HP:0006707) | 2.83663454 |
| 46 | Renovascular hypertension (HP:0100817) | 2.82231141 |
| 47 | Stage 5 chronic kidney disease (HP:0003774) | 2.82170167 |
| 48 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.72523658 |
| 49 | Rhinitis (HP:0012384) | 2.72272949 |
| 50 | Abnormal urine output (HP:0012590) | 2.69535560 |
| 51 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.69362483 |
| 52 | Abnormality of the costochondral junction (HP:0000919) | 2.64585383 |
| 53 | Abnormality of the renal medulla (HP:0100957) | 2.61953778 |
| 54 | Abnormality of potassium homeostasis (HP:0011042) | 2.55381492 |
| 55 | Polydipsia (HP:0001959) | 2.51779181 |
| 56 | Abnormal drinking behavior (HP:0030082) | 2.51779181 |
| 57 | Generalized aminoaciduria (HP:0002909) | 2.47066837 |
| 58 | Azoospermia (HP:0000027) | 2.44710921 |
| 59 | Intellectual disability, moderate (HP:0002342) | 2.37625448 |
| 60 | Abnormality of renal excretion (HP:0011036) | 2.29289691 |
| 61 | Unilateral renal agenesis (HP:0000122) | 2.25598951 |
| 62 | Chronic bronchitis (HP:0004469) | 2.22175930 |
| 63 | Polyuria (HP:0000103) | 2.21474067 |
| 64 | Ventricular tachycardia (HP:0004756) | 2.21154184 |
| 65 | Congenital sensorineural hearing impairment (HP:0008527) | 2.14955315 |
| 66 | Widely patent fontanelles and sutures (HP:0004492) | 2.07427149 |
| 67 | Abnormality of the aortic arch (HP:0012303) | 2.06525932 |
| 68 | Hyperuricemia (HP:0002149) | 2.06380479 |
| 69 | Increased purine levels (HP:0004368) | 2.06380479 |
| 70 | Bronchiectasis (HP:0002110) | 2.05611115 |
| 71 | Epiphyseal dysplasia (HP:0002656) | 2.05219679 |
| 72 | Hypophosphatemic rickets (HP:0004912) | 2.04996395 |
| 73 | Congenital malformation of the right heart (HP:0011723) | 2.01239805 |
| 74 | Double outlet right ventricle (HP:0001719) | 2.01239805 |
| 75 | Recurrent pneumonia (HP:0006532) | 2.00322804 |
| 76 | Renal dysplasia (HP:0000110) | 1.99025272 |
| 77 | Tubular atrophy (HP:0000092) | 1.94688104 |
| 78 | Focal segmental glomerulosclerosis (HP:0000097) | 1.91768152 |
| 79 | Subcapsular cataract (HP:0000523) | 1.87702755 |
| 80 | Progressive hearing impairment (HP:0001730) | 1.87058078 |
| 81 | Decreased central vision (HP:0007663) | 1.86463241 |
| 82 | Osteomalacia (HP:0002749) | 1.85677494 |
| 83 | Sandal gap (HP:0001852) | 1.85531320 |
| 84 | Myokymia (HP:0002411) | 1.80903390 |
| 85 | Bradycardia (HP:0001662) | 1.78193258 |
| 86 | Hypolipoproteinemia (HP:0010981) | 1.77969812 |
| 87 | Hyponatremia (HP:0002902) | 1.77067918 |
| 88 | Photophobia (HP:0000613) | 1.76326068 |
| 89 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.76046225 |
| 90 | Abnormality of the parathyroid morphology (HP:0011766) | 1.75257701 |
| 91 | Occipital encephalocele (HP:0002085) | 1.74964410 |
| 92 | Abnormality of the pubic bones (HP:0003172) | 1.72689737 |
| 93 | Abnormality of chloride homeostasis (HP:0011422) | 1.72039993 |
| 94 | Optic nerve hypoplasia (HP:0000609) | 1.70274212 |
| 95 | Underdeveloped nasal alae (HP:0000430) | 1.67208472 |
| 96 | Absent epiphyses (HP:0010577) | 1.66781201 |
| 97 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.66781201 |
| 98 | Mixed hearing impairment (HP:0000410) | 1.64766835 |
| 99 | Recurrent corneal erosions (HP:0000495) | 1.64709008 |
| 100 | Flattened epiphyses (HP:0003071) | 1.63767752 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 9.51743255 |
| 2 | TESK1 | 4.76530616 |
| 3 | INSRR | 4.39467423 |
| 4 | DDR2 | 4.25699185 |
| 5 | BRD4 | 3.95054632 |
| 6 | PLK2 | 3.60208599 |
| 7 | PNCK | 2.84531930 |
| 8 | PIK3CG | 2.62582710 |
| 9 | STK38 | 2.59385574 |
| 10 | STK38L | 2.39452891 |
| 11 | CAMK1G | 2.36598426 |
| 12 | MAP4K2 | 2.09163182 |
| 13 | MAPK15 | 2.00564590 |
| 14 | CDK12 | 1.99987594 |
| 15 | PRKD3 | 1.79944981 |
| 16 | MST1R | 1.52548096 |
| 17 | PDK1 | 1.50973461 |
| 18 | PDPK1 | 1.47798313 |
| 19 | WNK1 | 1.45446733 |
| 20 | FRK | 1.34481306 |
| 21 | PTK2B | 1.27796151 |
| 22 | TYRO3 | 1.27575700 |
| 23 | NEK6 | 1.20643825 |
| 24 | CDK7 | 1.14684211 |
| 25 | CAMK1D | 0.95631182 |
| 26 | AKT3 | 0.94613886 |
| 27 | DYRK1B | 0.89522924 |
| 28 | MAP3K9 | 0.89437561 |
| 29 | PRKG2 | 0.85420222 |
| 30 | SIK2 | 0.83384970 |
| 31 | KSR2 | 0.78540222 |
| 32 | MAP3K11 | 0.67040379 |
| 33 | LATS2 | 0.64929183 |
| 34 | PRKAA2 | 0.64636341 |
| 35 | MUSK | 0.64340406 |
| 36 | PRKG1 | 0.63168556 |
| 37 | NTRK3 | 0.61999481 |
| 38 | RPS6KA2 | 0.61129075 |
| 39 | LATS1 | 0.60935452 |
| 40 | BRAF | 0.57568083 |
| 41 | CAMK1 | 0.56823155 |
| 42 | TIE1 | 0.50632484 |
| 43 | BMPR1B | 0.50485913 |
| 44 | ADRBK2 | 0.49126294 |
| 45 | MAP2K2 | 0.48227558 |
| 46 | RPS6KA1 | 0.47749842 |
| 47 | WNK4 | 0.45922630 |
| 48 | MARK1 | 0.44938609 |
| 49 | JAK3 | 0.42124614 |
| 50 | UHMK1 | 0.41906349 |
| 51 | PINK1 | 0.41656763 |
| 52 | STK39 | 0.40340830 |
| 53 | PRKCG | 0.39677576 |
| 54 | CDK3 | 0.39640417 |
| 55 | GSK3B | 0.38645819 |
| 56 | MAPK1 | 0.38601255 |
| 57 | RIPK4 | 0.38492227 |
| 58 | CDK2 | 0.38019628 |
| 59 | ROCK1 | 0.37817266 |
| 60 | CDK1 | 0.37278272 |
| 61 | CAMK4 | 0.37177360 |
| 62 | SGK494 | 0.35519842 |
| 63 | SGK223 | 0.35519842 |
| 64 | MAP3K2 | 0.35393897 |
| 65 | TESK2 | 0.34917034 |
| 66 | MTOR | 0.30886686 |
| 67 | RPS6KA6 | 0.30803327 |
| 68 | RPS6KC1 | 0.29614360 |
| 69 | RPS6KL1 | 0.29614360 |
| 70 | PRKCB | 0.27095937 |
| 71 | MAPK8 | 0.26481128 |
| 72 | ACVR1B | 0.26409635 |
| 73 | OXSR1 | 0.25885701 |
| 74 | MAPK11 | 0.24888291 |
| 75 | SGK1 | 0.24002003 |
| 76 | BRSK1 | 0.23999562 |
| 77 | BRSK2 | 0.23364690 |
| 78 | CHEK1 | 0.23323988 |
| 79 | ZAK | 0.23322178 |
| 80 | MAP3K8 | 0.22583171 |
| 81 | PRKCZ | 0.22563026 |
| 82 | MARK2 | 0.20799416 |
| 83 | MAPK14 | 0.20658891 |
| 84 | MAP3K1 | 0.19640135 |
| 85 | NUAK1 | 0.17950505 |
| 86 | PRKAA1 | 0.17728548 |
| 87 | ARAF | 0.16523758 |
| 88 | PKN1 | 0.16144659 |
| 89 | MARK3 | 0.15978726 |
| 90 | CDK4 | 0.15896644 |
| 91 | MAP3K4 | 0.14474136 |
| 92 | MAPK10 | 0.14347282 |
| 93 | SGK2 | 0.14177825 |
| 94 | PRKACB | 0.13779754 |
| 95 | AKT1 | 0.13717515 |
| 96 | PRKCE | 0.12432859 |
| 97 | BLK | 0.12323120 |
| 98 | RIPK1 | 0.11065312 |
| 99 | MAP3K7 | 0.09942479 |
| 100 | MET | 0.09939840 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 6.40881342 |
| 2 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 5.83002479 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 4.14100793 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.26031767 |
| 5 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.07543992 |
| 6 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 2.02340553 |
| 7 | Taste transduction_Homo sapiens_hsa04742 | 1.97243618 |
| 8 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.95162937 |
| 9 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.66707873 |
| 10 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.64642047 |
| 11 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.64257584 |
| 12 | RNA transport_Homo sapiens_hsa03013 | 1.61131572 |
| 13 | Phototransduction_Homo sapiens_hsa04744 | 1.56981048 |
| 14 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.40752597 |
| 15 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.37376712 |
| 16 | ABC transporters_Homo sapiens_hsa02010 | 1.35720066 |
| 17 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.34627736 |
| 18 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.31541940 |
| 19 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.30619574 |
| 20 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.29030227 |
| 21 | Allograft rejection_Homo sapiens_hsa05330 | 1.26987144 |
| 22 | Morphine addiction_Homo sapiens_hsa05032 | 1.26007094 |
| 23 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.20457207 |
| 24 | Salivary secretion_Homo sapiens_hsa04970 | 1.18175687 |
| 25 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.17243386 |
| 26 | Nicotine addiction_Homo sapiens_hsa05033 | 1.16487795 |
| 27 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.16098438 |
| 28 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.16080451 |
| 29 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.12634233 |
| 30 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.10920229 |
| 31 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.08329819 |
| 32 | Circadian entrainment_Homo sapiens_hsa04713 | 1.06302994 |
| 33 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.05461272 |
| 34 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.02249377 |
| 35 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.02033657 |
| 36 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.99914068 |
| 37 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.96076919 |
| 38 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.94451538 |
| 39 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.94119473 |
| 40 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.92211892 |
| 41 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.91187615 |
| 42 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.89444399 |
| 43 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.88183169 |
| 44 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.86715885 |
| 45 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.85764265 |
| 46 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.85516710 |
| 47 | Endocytosis_Homo sapiens_hsa04144 | 0.83740174 |
| 48 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.83525153 |
| 49 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.81091192 |
| 50 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.79272367 |
| 51 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.78633421 |
| 52 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.77078632 |
| 53 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.74984291 |
| 54 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.74382415 |
| 55 | Renin secretion_Homo sapiens_hsa04924 | 0.73652301 |
| 56 | Influenza A_Homo sapiens_hsa05164 | 0.72833903 |
| 57 | Viral myocarditis_Homo sapiens_hsa05416 | 0.72379630 |
| 58 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.71954935 |
| 59 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.71742405 |
| 60 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.70420875 |
| 61 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.69567101 |
| 62 | Retinol metabolism_Homo sapiens_hsa00830 | 0.67925500 |
| 63 | Bile secretion_Homo sapiens_hsa04976 | 0.67271189 |
| 64 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.66845264 |
| 65 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.66065260 |
| 66 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.64215996 |
| 67 | GABAergic synapse_Homo sapiens_hsa04727 | 0.60636149 |
| 68 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.59478773 |
| 69 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.58794751 |
| 70 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.58443648 |
| 71 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.57925713 |
| 72 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.55151492 |
| 73 | Insulin secretion_Homo sapiens_hsa04911 | 0.54854604 |
| 74 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.54290676 |
| 75 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.52952812 |
| 76 | Purine metabolism_Homo sapiens_hsa00230 | 0.51675239 |
| 77 | Basal transcription factors_Homo sapiens_hsa03022 | 0.48591939 |
| 78 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.44393775 |
| 79 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.44346362 |
| 80 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.42871333 |
| 81 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.42377466 |
| 82 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.42149290 |
| 83 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.41041585 |
| 84 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.41030358 |
| 85 | Long-term potentiation_Homo sapiens_hsa04720 | 0.38939857 |
| 86 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.34097407 |
| 87 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.31280331 |
| 88 | Mineral absorption_Homo sapiens_hsa04978 | 0.31203489 |
| 89 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.30857252 |
| 90 | Tight junction_Homo sapiens_hsa04530 | 0.28846087 |
| 91 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.28709172 |
| 92 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.28422898 |
| 93 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.27988660 |
| 94 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.26805532 |
| 95 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.25040908 |
| 96 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.24691631 |
| 97 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.24280471 |
| 98 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.23499741 |
| 99 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.22010612 |
| 100 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.18763512 |

