

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | chromosome condensation (GO:0030261) | 8.89571068 |
| 2 | sperm capacitation (GO:0048240) | 8.80581625 |
| 3 | DNA packaging (GO:0006323) | 8.74420115 |
| 4 | spermatid nucleus differentiation (GO:0007289) | 8.41741098 |
| 5 | response to pheromone (GO:0019236) | 8.39890340 |
| 6 | single strand break repair (GO:0000012) | 7.69962822 |
| 7 | spermatid development (GO:0007286) | 7.65445855 |
| 8 | plasma membrane fusion (GO:0045026) | 7.64093646 |
| 9 | microtubule depolymerization (GO:0007019) | 6.91053767 |
| 10 | sperm-egg recognition (GO:0035036) | 6.83106116 |
| 11 | sexual reproduction (GO:0019953) | 6.72255541 |
| 12 | multicellular organism reproduction (GO:0032504) | 6.71997367 |
| 13 | reproduction (GO:0000003) | 6.48099087 |
| 14 | protein targeting to Golgi (GO:0000042) | 6.40396952 |
| 15 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.32283758 |
| 16 | microtubule severing (GO:0051013) | 6.27076142 |
| 17 | establishment of protein localization to Golgi (GO:0072600) | 6.24686759 |
| 18 | protein polyglutamylation (GO:0018095) | 6.21128342 |
| 19 | negative regulation of inclusion body assembly (GO:0090084) | 6.19826082 |
| 20 | binding of sperm to zona pellucida (GO:0007339) | 6.15354772 |
| 21 | rRNA methylation (GO:0031167) | 6.03657978 |
| 22 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.96461250 |
| 23 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.95513903 |
| 24 | calcium ion-dependent exocytosis (GO:0017156) | 5.84788852 |
| 25 | microtubule polymerization or depolymerization (GO:0031109) | 5.84470674 |
| 26 | axonemal dynein complex assembly (GO:0070286) | 5.83421225 |
| 27 | cellular ketone body metabolic process (GO:0046950) | 5.72372117 |
| 28 | positive regulation of Rab GTPase activity (GO:0032851) | 5.66484285 |
| 29 | regulation of Rab GTPase activity (GO:0032313) | 5.66484285 |
| 30 | cell-cell recognition (GO:0009988) | 5.66286976 |
| 31 | spermatogenesis (GO:0007283) | 5.59718444 |
| 32 | male gamete generation (GO:0048232) | 5.57392495 |
| 33 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.52612787 |
| 34 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 5.37824993 |
| 35 | centriole replication (GO:0007099) | 5.24484244 |
| 36 | regulation of cilium movement (GO:0003352) | 5.15000295 |
| 37 | gamete generation (GO:0007276) | 5.08449465 |
| 38 | ketone body metabolic process (GO:1902224) | 5.01344635 |
| 39 | chromatin silencing (GO:0006342) | 5.00323673 |
| 40 | rRNA modification (GO:0000154) | 4.83720413 |
| 41 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.72906827 |
| 42 | seminiferous tubule development (GO:0072520) | 4.53262595 |
| 43 | protein localization to Golgi apparatus (GO:0034067) | 4.51138027 |
| 44 | single fertilization (GO:0007338) | 4.44963361 |
| 45 | regulation of inclusion body assembly (GO:0090083) | 4.44219912 |
| 46 | centriole assembly (GO:0098534) | 4.41350149 |
| 47 | germ cell development (GO:0007281) | 4.28827850 |
| 48 | negative regulation of Rho protein signal transduction (GO:0035024) | 4.25912192 |
| 49 | RNA destabilization (GO:0050779) | 4.21162037 |
| 50 | motile cilium assembly (GO:0044458) | 4.20360527 |
| 51 | cell wall macromolecule catabolic process (GO:0016998) | 4.18995915 |
| 52 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.17267121 |
| 53 | cell wall macromolecule metabolic process (GO:0044036) | 4.14614385 |
| 54 | nucleus organization (GO:0006997) | 4.10305810 |
| 55 | multicellular organismal reproductive process (GO:0048609) | 4.07038680 |
| 56 | epithelial cilium movement (GO:0003351) | 3.96902461 |
| 57 | fertilization (GO:0009566) | 3.72697162 |
| 58 | glycerol ether metabolic process (GO:0006662) | 3.69839104 |
| 59 | cilium movement (GO:0003341) | 3.58830059 |
| 60 | regulation of centriole replication (GO:0046599) | 3.55143360 |
| 61 | protein-DNA complex disassembly (GO:0032986) | 3.54586157 |
| 62 | nucleosome disassembly (GO:0006337) | 3.54586157 |
| 63 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.43498980 |
| 64 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.38197742 |
| 65 | ether metabolic process (GO:0018904) | 3.37937149 |
| 66 | organic cation transport (GO:0015695) | 3.37519759 |
| 67 | regulation of T-helper 2 cell differentiation (GO:0045628) | 3.36922623 |
| 68 | regulation of microtubule-based movement (GO:0060632) | 3.29765629 |
| 69 | response to acidic pH (GO:0010447) | 3.28343752 |
| 70 | cellular response to pH (GO:0071467) | 3.21496295 |
| 71 | histone H3-K9 demethylation (GO:0033169) | 3.18882866 |
| 72 | homeostasis of number of cells within a tissue (GO:0048873) | 3.15002131 |
| 73 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.14712389 |
| 74 | musculoskeletal movement (GO:0050881) | 3.13738008 |
| 75 | multicellular organismal movement (GO:0050879) | 3.13738008 |
| 76 | coenzyme catabolic process (GO:0009109) | 3.12004969 |
| 77 | polyamine biosynthetic process (GO:0006596) | 3.09135319 |
| 78 | microtubule nucleation (GO:0007020) | 3.09090732 |
| 79 | Golgi to endosome transport (GO:0006895) | 3.07684083 |
| 80 | centrosome duplication (GO:0051298) | 3.03607337 |
| 81 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.02408374 |
| 82 | regulation of histone H3-K27 methylation (GO:0061085) | 3.00526316 |
| 83 | regulation of interleukin-13 production (GO:0032656) | 2.99682892 |
| 84 | coronary vasculature morphogenesis (GO:0060977) | 2.98475845 |
| 85 | multicellular organismal development (GO:0007275) | 2.97361903 |
| 86 | regulation of ARF GTPase activity (GO:0032312) | 2.94929933 |
| 87 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 2.89599050 |
| 88 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 2.89599050 |
| 89 | cranial nerve morphogenesis (GO:0021602) | 2.87409229 |
| 90 | negative regulation of histone methylation (GO:0031061) | 2.87233934 |
| 91 | alanine transport (GO:0032328) | 2.86043530 |
| 92 | regulation of cilium assembly (GO:1902017) | 2.83464039 |
| 93 | cerebral cortex neuron differentiation (GO:0021895) | 2.79175096 |
| 94 | left/right axis specification (GO:0070986) | 2.77631679 |
| 95 | DNA conformation change (GO:0071103) | 2.76243596 |
| 96 | NAD biosynthetic process (GO:0009435) | 2.73518841 |
| 97 | negative regulation of mesenchymal cell apoptotic process (GO:2001054) | 2.73398059 |
| 98 | acrosome reaction (GO:0007340) | 11.0335409 |
| 99 | sperm motility (GO:0030317) | 10.9996237 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.2468428 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.45860935 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 2.77691815 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.70037973 |
| 4 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.35619090 |
| 5 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.18677586 |
| 6 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 2.10791659 |
| 7 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.08546213 |
| 8 | DROSHA_22980978_ChIP-Seq_HELA_Human | 2.07891806 |
| 9 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.03441356 |
| 10 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.03441356 |
| 11 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.92531618 |
| 12 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.91158252 |
| 13 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.89531056 |
| 14 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.89531056 |
| 15 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.84631342 |
| 16 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.75256489 |
| 17 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.72485396 |
| 18 | ERA_21632823_ChIP-Seq_H3396_Human | 1.72008624 |
| 19 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.70645414 |
| 20 | FUS_26573619_Chip-Seq_HEK293_Human | 1.69151550 |
| 21 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.68196614 |
| 22 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.66447872 |
| 23 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.65188728 |
| 24 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.62196551 |
| 25 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.61268811 |
| 26 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.56765165 |
| 27 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.55175581 |
| 28 | AR_25329375_ChIP-Seq_VCAP_Human | 1.55168004 |
| 29 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.54663410 |
| 30 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.50477415 |
| 31 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.47485829 |
| 32 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.46532801 |
| 33 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.45551661 |
| 34 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.44373579 |
| 35 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.44369412 |
| 36 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.42515972 |
| 37 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.41665919 |
| 38 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.41036245 |
| 39 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.40725194 |
| 40 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.40108798 |
| 41 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.39216529 |
| 42 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.39067296 |
| 43 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.38763585 |
| 44 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.38334432 |
| 45 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.36208375 |
| 46 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.34246329 |
| 47 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.33537660 |
| 48 | P300_27268052_Chip-Seq_Bcells_Human | 1.32187347 |
| 49 | P68_20966046_ChIP-Seq_HELA_Human | 1.30884831 |
| 50 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.29678779 |
| 51 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.28402417 |
| 52 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.28276324 |
| 53 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.28033811 |
| 54 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.27290218 |
| 55 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.26558678 |
| 56 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.26410342 |
| 57 | P300_19829295_ChIP-Seq_ESCs_Human | 1.23559523 |
| 58 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.22920381 |
| 59 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.22483727 |
| 60 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.20414575 |
| 61 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.19261155 |
| 62 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.18943239 |
| 63 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.17860571 |
| 64 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.17766526 |
| 65 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.17313684 |
| 66 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.17235170 |
| 67 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.16806970 |
| 68 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.16263939 |
| 69 | GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.15343659 |
| 70 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.15144926 |
| 71 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.14819303 |
| 72 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.12798092 |
| 73 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.11931406 |
| 74 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.08853008 |
| 75 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.08325437 |
| 76 | TBL1_22424771_ChIP-Seq_293T_Human | 1.08007382 |
| 77 | STAT3_23295773_ChIP-Seq_U87_Human | 1.07483176 |
| 78 | VDR_24787735_ChIP-Seq_THP-1_Human | 1.07068072 |
| 79 | JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.06819490 |
| 80 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.06561220 |
| 81 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.06075469 |
| 82 | GATA3_26560356_Chip-Seq_TH1_Human | 1.05866249 |
| 83 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.05767556 |
| 84 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 1.05572897 |
| 85 | GATA1_19941826_ChIP-Seq_K562_Human | 1.05496336 |
| 86 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.04954341 |
| 87 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.04954341 |
| 88 | NFYB_21822215_ChIP-Seq_K562_Human | 1.03995192 |
| 89 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.03364289 |
| 90 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.03325152 |
| 91 | CJUN_26792858_Chip-Seq_BT549_Human | 1.00944948 |
| 92 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.00880406 |
| 93 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.00738169 |
| 94 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 0.99890618 |
| 95 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 0.98871120 |
| 96 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 0.98601437 |
| 97 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 0.97202922 |
| 98 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 0.96183991 |
| 99 | SMAD4_21799915_ChIP-Seq_A2780_Human | 0.95566221 |
| 100 | P53_21459846_ChIP-Seq_SAOS-2_Human | 0.94958347 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005670_abnormal_white_adipose | 6.27032420 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 4.52922133 |
| 3 | MP0003878_abnormal_ear_physiology | 4.52922133 |
| 4 | MP0003698_abnormal_male_reproductive | 4.29694142 |
| 5 | MP0001348_abnormal_lacrimal_gland | 4.04885950 |
| 6 | MP0001929_abnormal_gametogenesis | 3.69294701 |
| 7 | MP0003011_delayed_dark_adaptation | 2.68396790 |
| 8 | MP0002161_abnormal_fertility/fecundity | 2.32422724 |
| 9 | MP0000678_abnormal_parathyroid_gland | 2.21933582 |
| 10 | MP0002132_abnormal_respiratory_system | 2.17102304 |
| 11 | MP0005410_abnormal_fertilization | 12.0621797 |
| 12 | MP0003646_muscle_fatigue | 1.90280867 |
| 13 | MP0001485_abnormal_pinna_reflex | 1.81868777 |
| 14 | MP0005310_abnormal_salivary_gland | 1.81318442 |
| 15 | MP0003718_maternal_effect | 1.67803455 |
| 16 | MP0005379_endocrine/exocrine_gland_phen | 1.63849680 |
| 17 | MP0002249_abnormal_larynx_morphology | 1.63385818 |
| 18 | MP0002282_abnormal_trachea_morphology | 1.54091728 |
| 19 | MP0002210_abnormal_sex_determination | 1.43307003 |
| 20 | MP0000534_abnormal_ureter_morphology | 1.36964866 |
| 21 | MP0009053_abnormal_anal_canal | 1.31567284 |
| 22 | MP0001145_abnormal_male_reproductive | 1.22379011 |
| 23 | MP0002928_abnormal_bile_duct | 1.21285879 |
| 24 | MP0002127_abnormal_cardiovascular_syste | 1.20866675 |
| 25 | MP0000653_abnormal_sex_gland | 1.20189141 |
| 26 | MP0005248_abnormal_Harderian_gland | 1.17836973 |
| 27 | MP0005423_abnormal_somatic_nervous | 1.14252948 |
| 28 | MP0000681_abnormal_thyroid_gland | 1.14023801 |
| 29 | MP0001486_abnormal_startle_reflex | 1.11197402 |
| 30 | MP0002138_abnormal_hepatobiliary_system | 1.09779106 |
| 31 | MP0005167_abnormal_blood-brain_barrier | 1.08301463 |
| 32 | MP0005666_abnormal_adipose_tissue | 1.06562445 |
| 33 | MP0001765_abnormal_ion_homeostasis | 1.06538182 |
| 34 | MP0004484_altered_response_of | 1.06534037 |
| 35 | MP0002735_abnormal_chemical_nociception | 1.06406973 |
| 36 | MP0004782_abnormal_surfactant_physiolog | 1.06015726 |
| 37 | MP0005451_abnormal_body_composition | 1.00921361 |
| 38 | MP0008961_abnormal_basal_metabolism | 1.00055033 |
| 39 | MP0009115_abnormal_fat_cell | 0.96328241 |
| 40 | MP0001963_abnormal_hearing_physiology | 0.95937545 |
| 41 | MP0001968_abnormal_touch/_nociception | 0.92387624 |
| 42 | MP0005395_other_phenotype | 0.92106169 |
| 43 | MP0005367_renal/urinary_system_phenotyp | 0.86940312 |
| 44 | MP0000516_abnormal_urinary_system | 0.86940312 |
| 45 | MP0000026_abnormal_inner_ear | 0.86892773 |
| 46 | MP0000569_abnormal_digit_pigmentation | 0.79401093 |
| 47 | MP0000049_abnormal_middle_ear | 0.79253911 |
| 48 | MP0002234_abnormal_pharynx_morphology | 0.77698626 |
| 49 | MP0004859_abnormal_synaptic_plasticity | 0.77566083 |
| 50 | MP0005551_abnormal_eye_electrophysiolog | 0.73108815 |
| 51 | MP0001873_stomach_inflammation | 0.72771053 |
| 52 | MP0008877_abnormal_DNA_methylation | 0.72670656 |
| 53 | MP0002822_catalepsy | 0.71455214 |
| 54 | MP0008569_lethality_at_weaning | 0.71263083 |
| 55 | MP0004742_abnormal_vestibular_system | 0.69260922 |
| 56 | MP0000249_abnormal_blood_vessel | 0.66759119 |
| 57 | MP0003091_abnormal_cell_migration | 0.64844776 |
| 58 | MP0005164_abnormal_response_to | 0.64483945 |
| 59 | MP0004510_myositis | 0.63298218 |
| 60 | MP0009764_decreased_sensitivity_to | 0.62165264 |
| 61 | MP0002733_abnormal_thermal_nociception | 0.57493207 |
| 62 | MP0005375_adipose_tissue_phenotype | 0.57425734 |
| 63 | MP0006292_abnormal_olfactory_placode | 0.57109755 |
| 64 | MP0005647_abnormal_sex_gland | 0.55688060 |
| 65 | MP0003172_abnormal_lysosome_physiology | 0.55352846 |
| 66 | MP0000955_abnormal_spinal_cord | 0.55132122 |
| 67 | MP0001879_abnormal_lymphatic_vessel | 0.55052846 |
| 68 | MP0002229_neurodegeneration | 0.54694799 |
| 69 | MP0001835_abnormal_antigen_presentation | 0.53429859 |
| 70 | MP0005636_abnormal_mineral_homeostasis | 0.52396919 |
| 71 | MP0005535_abnormal_body_temperature | 0.51876369 |
| 72 | MP0000470_abnormal_stomach_morphology | 0.51547139 |
| 73 | MP0002168_other_aberrant_phenotype | 0.47571736 |
| 74 | MP0003879_abnormal_hair_cell | 0.46770015 |
| 75 | MP0001545_abnormal_hematopoietic_system | 0.46558916 |
| 76 | MP0005397_hematopoietic_system_phenotyp | 0.46558916 |
| 77 | MP0005253_abnormal_eye_physiology | 0.46040467 |
| 78 | MP0001614_abnormal_blood_vessel | 0.44150412 |
| 79 | MP0000230_abnormal_systemic_arterial | 0.43454922 |
| 80 | MP0004085_abnormal_heartbeat | 0.41630225 |
| 81 | MP0002933_joint_inflammation | 0.41480609 |
| 82 | MP0002653_abnormal_ependyma_morphology | 0.40949500 |
| 83 | MP0003221_abnormal_cardiomyocyte_apopto | 0.40810806 |
| 84 | MP0002067_abnormal_sensory_capabilities | 0.40514377 |
| 85 | MP0009765_abnormal_xenobiotic_induced | 0.40310252 |
| 86 | MP0001270_distended_abdomen | 0.40131296 |
| 87 | MP0001175_abnormal_lung_morphology | 0.39414961 |
| 88 | MP0009384_cardiac_valve_regurgitation | 0.39275998 |
| 89 | MP0002419_abnormal_innate_immunity | 0.39148066 |
| 90 | MP0008995_early_reproductive_senescence | 0.38001678 |
| 91 | MP0004084_abnormal_cardiac_muscle | 0.37902407 |
| 92 | MP0000467_abnormal_esophagus_morphology | 0.37446017 |
| 93 | MP0005623_abnormal_meninges_morphology | 0.36041133 |
| 94 | MP0005595_abnormal_vascular_smooth | 0.35917159 |
| 95 | MP0002925_abnormal_cardiovascular_devel | 0.35215534 |
| 96 | MP0000685_abnormal_immune_system | 0.35102860 |
| 97 | MP0003724_increased_susceptibility_to | 0.35015865 |
| 98 | MP0004133_heterotaxia | 0.34431378 |
| 99 | MP0001533_abnormal_skeleton_physiology | 0.34232998 |
| 100 | MP0005174_abnormal_tail_pigmentation | 0.32438348 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 7.42936035 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 5.83412483 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.83412483 |
| 4 | Asymmetric septal hypertrophy (HP:0001670) | 5.18720541 |
| 5 | Abnormal ciliary motility (HP:0012262) | 4.83623688 |
| 6 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.70269947 |
| 7 | Attenuation of retinal blood vessels (HP:0007843) | 4.64351991 |
| 8 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.60260524 |
| 9 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.60260524 |
| 10 | Tubulointerstitial nephritis (HP:0001970) | 4.54333796 |
| 11 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.43206047 |
| 12 | Nasal polyposis (HP:0100582) | 4.36864297 |
| 13 | Hyperkalemia (HP:0002153) | 4.32151769 |
| 14 | Chronic hepatic failure (HP:0100626) | 4.25690182 |
| 15 | Bell-shaped thorax (HP:0001591) | 4.21054948 |
| 16 | Hypoplastic ischia (HP:0003175) | 4.18167426 |
| 17 | Male infertility (HP:0003251) | 4.02771603 |
| 18 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.98977206 |
| 19 | Abnormality of the ischium (HP:0003174) | 3.83070374 |
| 20 | Infertility (HP:0000789) | 3.78609102 |
| 21 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.69970773 |
| 22 | Abnormality of the nasal mucosa (HP:0000433) | 3.66073854 |
| 23 | Resting tremor (HP:0002322) | 3.56543993 |
| 24 | Enlarged epiphyses (HP:0010580) | 3.56141314 |
| 25 | Potter facies (HP:0002009) | 3.53063784 |
| 26 | Facial shape deformation (HP:0011334) | 3.53063784 |
| 27 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.44415863 |
| 28 | Abnormality of macular pigmentation (HP:0008002) | 3.32893791 |
| 29 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.31001799 |
| 30 | Azoospermia (HP:0000027) | 3.29819543 |
| 31 | Hypoalphalipoproteinemia (HP:0003233) | 3.19069042 |
| 32 | Abnormal spermatogenesis (HP:0008669) | 3.17115141 |
| 33 | Impulsivity (HP:0100710) | 3.06115821 |
| 34 | Cone-rod dystrophy (HP:0000548) | 3.04930005 |
| 35 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.96354109 |
| 36 | Portal hypertension (HP:0001409) | 2.88111351 |
| 37 | Progressive sensorineural hearing impairment (HP:0000408) | 2.86440468 |
| 38 | Abnormality of the costochondral junction (HP:0000919) | 2.85721903 |
| 39 | Abnormality of potassium homeostasis (HP:0011042) | 2.67282100 |
| 40 | Abnormality of the hepatic vasculature (HP:0006707) | 2.61411439 |
| 41 | Nephronophthisis (HP:0000090) | 2.55692284 |
| 42 | Abnormality of dental color (HP:0011073) | 2.52066949 |
| 43 | Hypoplasia of the thymus (HP:0000778) | 2.46417929 |
| 44 | Amelogenesis imperfecta (HP:0000705) | 2.46399533 |
| 45 | Stage 5 chronic kidney disease (HP:0003774) | 2.46227939 |
| 46 | Rhinitis (HP:0012384) | 2.44702410 |
| 47 | Truncal obesity (HP:0001956) | 2.42737983 |
| 48 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.37710322 |
| 49 | Osteomalacia (HP:0002749) | 2.37093699 |
| 50 | Bronchiectasis (HP:0002110) | 2.35103051 |
| 51 | Abnormal urine output (HP:0012590) | 2.34786152 |
| 52 | Progressive cerebellar ataxia (HP:0002073) | 2.28897439 |
| 53 | Abnormality of the aortic arch (HP:0012303) | 2.28809242 |
| 54 | Cerebellar dysplasia (HP:0007033) | 2.27311174 |
| 55 | Recurrent pneumonia (HP:0006532) | 2.27272729 |
| 56 | Abnormality of the renal medulla (HP:0100957) | 2.27173709 |
| 57 | Renal dysplasia (HP:0000110) | 2.24889111 |
| 58 | Tetany (HP:0001281) | 2.20572159 |
| 59 | Hyponatremia (HP:0002902) | 2.18279288 |
| 60 | Atelectasis (HP:0100750) | 2.15179893 |
| 61 | Tubulointerstitial abnormality (HP:0001969) | 2.14863432 |
| 62 | Postural instability (HP:0002172) | 2.11256671 |
| 63 | Abnormality of renal excretion (HP:0011036) | 1.94113916 |
| 64 | Abnormality of the parathyroid morphology (HP:0011766) | 1.91229651 |
| 65 | Abnormal drinking behavior (HP:0030082) | 1.90561472 |
| 66 | Polydipsia (HP:0001959) | 1.90561472 |
| 67 | Short ribs (HP:0000773) | 1.90079089 |
| 68 | Epiphyseal dysplasia (HP:0002656) | 1.88276903 |
| 69 | Unilateral renal agenesis (HP:0000122) | 1.87829823 |
| 70 | Neonatal short-limb short stature (HP:0008921) | 1.87647035 |
| 71 | Progressive hearing impairment (HP:0001730) | 1.87486723 |
| 72 | Hypoparathyroidism (HP:0000829) | 1.87422438 |
| 73 | Gingivitis (HP:0000230) | 1.85834677 |
| 74 | Renovascular hypertension (HP:0100817) | 1.85599633 |
| 75 | Flattened epiphyses (HP:0003071) | 1.83950809 |
| 76 | Widely patent fontanelles and sutures (HP:0004492) | 1.83274831 |
| 77 | Recurrent corneal erosions (HP:0000495) | 1.82015674 |
| 78 | Congenital malformation of the right heart (HP:0011723) | 1.80660086 |
| 79 | Double outlet right ventricle (HP:0001719) | 1.80660086 |
| 80 | Hypokalemia (HP:0002900) | 1.80498952 |
| 81 | Polyuria (HP:0000103) | 1.79277807 |
| 82 | Hypochromic microcytic anemia (HP:0004840) | 1.78999917 |
| 83 | Hyperthyroidism (HP:0000836) | 1.78942288 |
| 84 | Flat capital femoral epiphysis (HP:0003370) | 1.78698013 |
| 85 | Abnormality of the pubic bones (HP:0003172) | 1.77350631 |
| 86 | Genetic anticipation (HP:0003743) | 1.77190401 |
| 87 | Ventricular tachycardia (HP:0004756) | 1.73456215 |
| 88 | Hypophosphatemic rickets (HP:0004912) | 1.66652415 |
| 89 | Intellectual disability, moderate (HP:0002342) | 1.66108361 |
| 90 | Short phalanx of the thumb (HP:0009660) | 1.65548488 |
| 91 | Macular degeneration (HP:0000608) | 1.65463190 |
| 92 | Abnormality of sodium homeostasis (HP:0010931) | 1.64544624 |
| 93 | Menstrual irregularities (HP:0000858) | 1.63445145 |
| 94 | Generalized aminoaciduria (HP:0002909) | 1.62847460 |
| 95 | Increased purine levels (HP:0004368) | 1.60841575 |
| 96 | Hyperuricemia (HP:0002149) | 1.60841575 |
| 97 | Bowel incontinence (HP:0002607) | 1.59943238 |
| 98 | Protuberant abdomen (HP:0001538) | 1.55886030 |
| 99 | Sandal gap (HP:0001852) | 1.55612987 |
| 100 | Reticulocytosis (HP:0001923) | 1.54013054 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 7.36875592 |
| 2 | TESK1 | 5.29407044 |
| 3 | DDR2 | 5.03244288 |
| 4 | PNCK | 3.74757538 |
| 5 | STK38 | 3.52379329 |
| 6 | MAP4K2 | 2.71240347 |
| 7 | MAPK15 | 2.63425617 |
| 8 | BRD4 | 2.59454337 |
| 9 | INSRR | 2.55396499 |
| 10 | PLK2 | 2.37991546 |
| 11 | STK38L | 2.06475174 |
| 12 | PIK3CG | 2.02561449 |
| 13 | CAMK1G | 1.89819874 |
| 14 | PRKD3 | 1.88328062 |
| 15 | DYRK1B | 1.83094810 |
| 16 | WNK1 | 1.71476928 |
| 17 | MST1R | 1.39016571 |
| 18 | PDK1 | 1.38264910 |
| 19 | MAP3K7 | 1.37469460 |
| 20 | PDPK1 | 1.34443874 |
| 21 | RIPK4 | 1.32285499 |
| 22 | PTK2B | 1.30364058 |
| 23 | PKN2 | 1.28885973 |
| 24 | SIK2 | 1.27548016 |
| 25 | KSR2 | 1.24318683 |
| 26 | MARK2 | 1.07649936 |
| 27 | BRSK2 | 1.07579824 |
| 28 | CDK12 | 1.06664937 |
| 29 | AKT3 | 1.04097512 |
| 30 | TNK2 | 1.01248662 |
| 31 | JAK3 | 0.99493251 |
| 32 | MUSK | 0.96832576 |
| 33 | NEK6 | 0.90267703 |
| 34 | CAMK1 | 0.86407679 |
| 35 | PRKAA2 | 0.84689620 |
| 36 | CDK7 | 0.81177440 |
| 37 | PRKG2 | 0.81115926 |
| 38 | STK39 | 0.77447198 |
| 39 | KIT | 0.73863372 |
| 40 | MAP3K1 | 0.73387509 |
| 41 | RPS6KA2 | 0.73169409 |
| 42 | FLT3 | 0.72203950 |
| 43 | ROCK1 | 0.72158264 |
| 44 | RPS6KA1 | 0.68110392 |
| 45 | PRKG1 | 0.62244112 |
| 46 | BRAF | 0.61335477 |
| 47 | MAP3K2 | 0.61271667 |
| 48 | MAP2K2 | 0.61210030 |
| 49 | RPS6KL1 | 0.57799660 |
| 50 | RPS6KC1 | 0.57799660 |
| 51 | FER | 0.56070502 |
| 52 | WNK4 | 0.53258113 |
| 53 | MAPK11 | 0.52830931 |
| 54 | MAP3K8 | 0.51305383 |
| 55 | RPS6KA6 | 0.51230934 |
| 56 | BLK | 0.50652237 |
| 57 | TEC | 0.50348541 |
| 58 | CAMK4 | 0.49165554 |
| 59 | CAMKK2 | 0.47369258 |
| 60 | BMPR2 | 0.45888217 |
| 61 | LATS1 | 0.44171689 |
| 62 | GSK3B | 0.44053270 |
| 63 | CLK1 | 0.43203546 |
| 64 | MAPK1 | 0.41944183 |
| 65 | CAMK1D | 0.41861866 |
| 66 | MAPK8 | 0.39739270 |
| 67 | CDK4 | 0.39369484 |
| 68 | MAP2K7 | 0.38925372 |
| 69 | MAP3K4 | 0.38795484 |
| 70 | MAP3K9 | 0.38358858 |
| 71 | CDK2 | 0.34558805 |
| 72 | MTOR | 0.33616178 |
| 73 | BRSK1 | 0.33210673 |
| 74 | WNK3 | 0.33148333 |
| 75 | UHMK1 | 0.32410329 |
| 76 | PKN1 | 0.31604031 |
| 77 | TRPM7 | 0.30385902 |
| 78 | MAPK10 | 0.30162877 |
| 79 | BMPR1B | 0.28977703 |
| 80 | PBK | 0.28623379 |
| 81 | ERN1 | 0.28176717 |
| 82 | JAK2 | 0.27483260 |
| 83 | LATS2 | 0.27277381 |
| 84 | CDK1 | 0.26872337 |
| 85 | PRKCB | 0.26335114 |
| 86 | OXSR1 | 0.25420057 |
| 87 | ITK | 0.25241654 |
| 88 | RET | 0.25208270 |
| 89 | HCK | 0.24514697 |
| 90 | TXK | 0.24328284 |
| 91 | NTRK3 | 0.23465946 |
| 92 | NEK9 | 0.22443476 |
| 93 | CHEK1 | 0.21875615 |
| 94 | MAP3K13 | 0.21784941 |
| 95 | FES | 0.20186523 |
| 96 | CDK3 | 0.19981668 |
| 97 | PRKAA1 | 0.19952267 |
| 98 | CSK | 0.19748810 |
| 99 | SGK1 | 0.19080869 |
| 100 | ERBB3 | 0.17299441 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 7.73467681 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 4.49841525 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.39624163 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.49585551 |
| 5 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.95448918 |
| 6 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.92054615 |
| 7 | Allograft rejection_Homo sapiens_hsa05330 | 1.85428314 |
| 8 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.74681094 |
| 9 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.71639311 |
| 10 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.70876840 |
| 11 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.59414129 |
| 12 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.57196866 |
| 13 | ABC transporters_Homo sapiens_hsa02010 | 1.55196286 |
| 14 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.39436755 |
| 15 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 1.38678104 |
| 16 | Taste transduction_Homo sapiens_hsa04742 | 1.37637694 |
| 17 | Viral myocarditis_Homo sapiens_hsa05416 | 1.37613645 |
| 18 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.21104105 |
| 19 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.18503128 |
| 20 | Influenza A_Homo sapiens_hsa05164 | 1.11886014 |
| 21 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.10926924 |
| 22 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.10657714 |
| 23 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.09843274 |
| 24 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.09624067 |
| 25 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 1.08713273 |
| 26 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.05330124 |
| 27 | Endocytosis_Homo sapiens_hsa04144 | 1.04398532 |
| 28 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.00560085 |
| 29 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.99897220 |
| 30 | Circadian rhythm_Homo sapiens_hsa04710 | 0.98833584 |
| 31 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.97372342 |
| 32 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.95680044 |
| 33 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.92931748 |
| 34 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.92471039 |
| 35 | Salivary secretion_Homo sapiens_hsa04970 | 0.92322211 |
| 36 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.83239425 |
| 37 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.80713375 |
| 38 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.80704583 |
| 39 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.79972711 |
| 40 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.73427744 |
| 41 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.72287869 |
| 42 | Morphine addiction_Homo sapiens_hsa05032 | 0.70582932 |
| 43 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 0.67345337 |
| 44 | Circadian entrainment_Homo sapiens_hsa04713 | 0.65234143 |
| 45 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.63883078 |
| 46 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.63179055 |
| 47 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.62705449 |
| 48 | RNA transport_Homo sapiens_hsa03013 | 0.61729016 |
| 49 | Phototransduction_Homo sapiens_hsa04744 | 0.60944727 |
| 50 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.60549377 |
| 51 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.60128125 |
| 52 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.59196222 |
| 53 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.58904970 |
| 54 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 0.54439275 |
| 55 | Lysine degradation_Homo sapiens_hsa00310 | 0.53614265 |
| 56 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.53199051 |
| 57 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.50705370 |
| 58 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.50553243 |
| 59 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 0.49719249 |
| 60 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.49511822 |
| 61 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.49015979 |
| 62 | Renin secretion_Homo sapiens_hsa04924 | 0.48276056 |
| 63 | Chemokine signaling pathway_Homo sapiens_hsa04062 | 0.48067323 |
| 64 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.47404787 |
| 65 | Measles_Homo sapiens_hsa05162 | 0.47188919 |
| 66 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.47048008 |
| 67 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.46973167 |
| 68 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.46523119 |
| 69 | Leishmaniasis_Homo sapiens_hsa05140 | 0.44938622 |
| 70 | Platelet activation_Homo sapiens_hsa04611 | 0.44926964 |
| 71 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.44192704 |
| 72 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.43712576 |
| 73 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.43361547 |
| 74 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.43282374 |
| 75 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.42752798 |
| 76 | Osteoclast differentiation_Homo sapiens_hsa04380 | 0.42623299 |
| 77 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.41928046 |
| 78 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.41750811 |
| 79 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.40237114 |
| 80 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.40057297 |
| 81 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.38386853 |
| 82 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.38107973 |
| 83 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.37512699 |
| 84 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.37182820 |
| 85 | RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622 | 0.36011331 |
| 86 | Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650 | 0.34875071 |
| 87 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.34095630 |
| 88 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.33666154 |
| 89 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.32949758 |
| 90 | Adherens junction_Homo sapiens_hsa04520 | 0.31055606 |
| 91 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.30925625 |
| 92 | Retinol metabolism_Homo sapiens_hsa00830 | 0.30637423 |
| 93 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.30284441 |
| 94 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.29727035 |
| 95 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.29049295 |
| 96 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.28586758 |
| 97 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.28177426 |
| 98 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.27943504 |
| 99 | African trypanosomiasis_Homo sapiens_hsa05143 | 0.27597428 |
| 100 | Fc epsilon RI signaling pathway_Homo sapiens_hsa04664 | 0.26730671 |

