

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | chromosome condensation (GO:0030261) | 9.24302842 |
| 2 | response to pheromone (GO:0019236) | 9.09459410 |
| 3 | DNA packaging (GO:0006323) | 8.85941060 |
| 4 | sperm capacitation (GO:0048240) | 8.79174549 |
| 5 | plasma membrane fusion (GO:0045026) | 8.39665473 |
| 6 | spermatid nucleus differentiation (GO:0007289) | 7.96196008 |
| 7 | microtubule depolymerization (GO:0007019) | 7.88785122 |
| 8 | single strand break repair (GO:0000012) | 7.81496572 |
| 9 | spermatid development (GO:0007286) | 7.52785082 |
| 10 | sperm-egg recognition (GO:0035036) | 7.31508798 |
| 11 | rRNA methylation (GO:0031167) | 7.04144143 |
| 12 | multicellular organism reproduction (GO:0032504) | 6.78275370 |
| 13 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 6.69135914 |
| 14 | protein targeting to Golgi (GO:0000042) | 6.69099664 |
| 15 | binding of sperm to zona pellucida (GO:0007339) | 6.57573983 |
| 16 | microtubule polymerization or depolymerization (GO:0031109) | 6.47207352 |
| 17 | protein polyglutamylation (GO:0018095) | 6.46251441 |
| 18 | negative regulation of inclusion body assembly (GO:0090084) | 6.43975627 |
| 19 | reproduction (GO:0000003) | 6.40598996 |
| 20 | establishment of protein localization to Golgi (GO:0072600) | 6.40250711 |
| 21 | sexual reproduction (GO:0019953) | 6.27752949 |
| 22 | calcium ion-dependent exocytosis (GO:0017156) | 6.22616546 |
| 23 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 6.21671239 |
| 24 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.16082793 |
| 25 | cell-cell recognition (GO:0009988) | 6.02032531 |
| 26 | rRNA modification (GO:0000154) | 6.00582015 |
| 27 | spermatogenesis (GO:0007283) | 5.94600473 |
| 28 | male gamete generation (GO:0048232) | 5.92460481 |
| 29 | centriole replication (GO:0007099) | 5.83333979 |
| 30 | axonemal dynein complex assembly (GO:0070286) | 5.82832962 |
| 31 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.70411182 |
| 32 | RNA destabilization (GO:0050779) | 5.54708188 |
| 33 | gamete generation (GO:0007276) | 5.42181027 |
| 34 | regulation of Rab GTPase activity (GO:0032313) | 5.15677497 |
| 35 | positive regulation of Rab GTPase activity (GO:0032851) | 5.15677497 |
| 36 | cellular ketone body metabolic process (GO:0046950) | 5.15596656 |
| 37 | centriole assembly (GO:0098534) | 5.11440564 |
| 38 | protein localization to Golgi apparatus (GO:0034067) | 5.09713673 |
| 39 | microtubule severing (GO:0051013) | 4.98193393 |
| 40 | regulation of cilium movement (GO:0003352) | 4.85699334 |
| 41 | motile cilium assembly (GO:0044458) | 4.78030239 |
| 42 | single fertilization (GO:0007338) | 4.75135981 |
| 43 | chromatin silencing (GO:0006342) | 4.59443963 |
| 44 | cell wall macromolecule catabolic process (GO:0016998) | 4.56855584 |
| 45 | ketone body metabolic process (GO:1902224) | 4.55710952 |
| 46 | regulation of inclusion body assembly (GO:0090083) | 4.46956424 |
| 47 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.40984753 |
| 48 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.39526177 |
| 49 | multicellular organismal reproductive process (GO:0048609) | 4.33140665 |
| 50 | germ cell development (GO:0007281) | 4.29895105 |
| 51 | cell wall macromolecule metabolic process (GO:0044036) | 4.29325818 |
| 52 | negative regulation of Rho protein signal transduction (GO:0035024) | 4.22713295 |
| 53 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.16310276 |
| 54 | regulation of somitogenesis (GO:0014807) | 4.14027004 |
| 55 | regulation of T-helper 2 cell differentiation (GO:0045628) | 3.98422824 |
| 56 | seminiferous tubule development (GO:0072520) | 3.92196778 |
| 57 | fertilization (GO:0009566) | 3.91268372 |
| 58 | nucleus organization (GO:0006997) | 3.89140993 |
| 59 | regulation of centriole replication (GO:0046599) | 3.78246572 |
| 60 | glycerol ether metabolic process (GO:0006662) | 3.73365433 |
| 61 | coenzyme catabolic process (GO:0009109) | 3.63518307 |
| 62 | epithelial cilium movement (GO:0003351) | 3.47906028 |
| 63 | organic cation transport (GO:0015695) | 3.46057181 |
| 64 | ether metabolic process (GO:0018904) | 3.42941115 |
| 65 | regulation of interleukin-13 production (GO:0032656) | 3.42850645 |
| 66 | musculoskeletal movement (GO:0050881) | 3.39684584 |
| 67 | multicellular organismal movement (GO:0050879) | 3.39684584 |
| 68 | regulation of microtubule-based movement (GO:0060632) | 3.38103358 |
| 69 | microtubule nucleation (GO:0007020) | 3.29684639 |
| 70 | NAD biosynthetic process (GO:0009435) | 3.26779478 |
| 71 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.24642617 |
| 72 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.21809259 |
| 73 | histone H3-K9 demethylation (GO:0033169) | 3.21444040 |
| 74 | polyamine biosynthetic process (GO:0006596) | 3.16594611 |
| 75 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.14901574 |
| 76 | cranial nerve morphogenesis (GO:0021602) | 3.07826551 |
| 77 | response to acidic pH (GO:0010447) | 3.07688537 |
| 78 | homeostasis of number of cells within a tissue (GO:0048873) | 3.03305709 |
| 79 | cilium movement (GO:0003341) | 3.00477102 |
| 80 | cellular response to pH (GO:0071467) | 2.97591802 |
| 81 | multicellular organismal development (GO:0007275) | 2.93472662 |
| 82 | cerebral cortex neuron differentiation (GO:0021895) | 2.92999553 |
| 83 | membrane protein intracellular domain proteolysis (GO:0031293) | 2.92192925 |
| 84 | nucleosome disassembly (GO:0006337) | 2.88026027 |
| 85 | protein-DNA complex disassembly (GO:0032986) | 2.88026027 |
| 86 | cell differentiation involved in metanephros development (GO:0072202) | 2.85435911 |
| 87 | cell recognition (GO:0008037) | 2.81297460 |
| 88 | regulation of ARF GTPase activity (GO:0032312) | 2.80120747 |
| 89 | negative regulation of mesenchymal cell apoptotic process (GO:2001054) | 2.78277205 |
| 90 | glomerular visceral epithelial cell development (GO:0072015) | 2.76130156 |
| 91 | tooth mineralization (GO:0034505) | 2.72893039 |
| 92 | positive regulation of type 2 immune response (GO:0002830) | 2.72480026 |
| 93 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.70004330 |
| 94 | positive regulation of T cell mediated cytotoxicity (GO:0001916) | 2.69946439 |
| 95 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 2.68981496 |
| 96 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 2.68981496 |
| 97 | protein depolymerization (GO:0051261) | 2.67857853 |
| 98 | acrosome reaction (GO:0007340) | 11.7366327 |
| 99 | sperm motility (GO:0030317) | 11.2191454 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 11.1025121 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 4.84711837 |
| 2 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.82371804 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.03590583 |
| 4 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.43007665 |
| 5 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.43007665 |
| 6 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.23632133 |
| 7 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 2.06737528 |
| 8 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.04586991 |
| 9 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.98474901 |
| 10 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.98474901 |
| 11 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.98172430 |
| 12 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.95848442 |
| 13 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.93859287 |
| 14 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.92499605 |
| 15 | ERA_21632823_ChIP-Seq_H3396_Human | 1.90980914 |
| 16 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.89669014 |
| 17 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.87534836 |
| 18 | * RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.87150771 |
| 19 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.86375495 |
| 20 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.78304966 |
| 21 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.76324439 |
| 22 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.72264172 |
| 23 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.69467518 |
| 24 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.65770903 |
| 25 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.65579360 |
| 26 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.65331375 |
| 27 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.64995414 |
| 28 | FUS_26573619_Chip-Seq_HEK293_Human | 1.64814412 |
| 29 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.62861689 |
| 30 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.61475636 |
| 31 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.60193719 |
| 32 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.56235610 |
| 33 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.55012151 |
| 34 | P68_20966046_ChIP-Seq_HELA_Human | 1.54320573 |
| 35 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.52825691 |
| 36 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.52191064 |
| 37 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.51016277 |
| 38 | P300_27268052_Chip-Seq_Bcells_Human | 1.49570746 |
| 39 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.49057772 |
| 40 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.48236880 |
| 41 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.47849018 |
| 42 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.47563053 |
| 43 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.45053484 |
| 44 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.44535259 |
| 45 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.41128275 |
| 46 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.40195639 |
| 47 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.39871859 |
| 48 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.39566031 |
| 49 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.35566978 |
| 50 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.35378510 |
| 51 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.33541206 |
| 52 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.30266739 |
| 53 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.30192016 |
| 54 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.29761982 |
| 55 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.29275135 |
| 56 | AR_25329375_ChIP-Seq_VCAP_Human | 1.28973400 |
| 57 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.27980162 |
| 58 | VDR_24787735_ChIP-Seq_THP-1_Human | 1.27370502 |
| 59 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.26885483 |
| 60 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.26191139 |
| 61 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.26151916 |
| 62 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.25936085 |
| 63 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.24716777 |
| 64 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.24400770 |
| 65 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.23772274 |
| 66 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.22865464 |
| 67 | SA1_27219007_Chip-Seq_Bcells_Human | 1.21130244 |
| 68 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.20733186 |
| 69 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.18269821 |
| 70 | GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.18153398 |
| 71 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.15544041 |
| 72 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.15140689 |
| 73 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.14399321 |
| 74 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.12829452 |
| 75 | GATA1_19941826_ChIP-Seq_K562_Human | 1.12131936 |
| 76 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.11916321 |
| 77 | SPI1_20517297_ChIP-Seq_HL60_Human | 1.11419812 |
| 78 | NFYB_21822215_ChIP-Seq_K562_Human | 1.10806071 |
| 79 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 1.10034041 |
| 80 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.09417975 |
| 81 | TBL1_22424771_ChIP-Seq_293T_Human | 1.07581280 |
| 82 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.05926923 |
| 83 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.05815730 |
| 84 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.05006913 |
| 85 | STAT1_20625510_ChIP-Seq_HELA_Human | 1.04300555 |
| 86 | P300_19829295_ChIP-Seq_ESCs_Human | 1.03308153 |
| 87 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.02658856 |
| 88 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.01761844 |
| 89 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.00348585 |
| 90 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 1.00161721 |
| 91 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 0.98749682 |
| 92 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 0.97687522 |
| 93 | FOXH1_21741376_ChIP-Seq_ESCs_Human | 0.96779382 |
| 94 | NANOG_19829295_ChIP-Seq_ESCs_Human | 0.96701283 |
| 95 | SOX2_19829295_ChIP-Seq_ESCs_Human | 0.96701283 |
| 96 | RUNX2_22187159_ChIP-Seq_PCA_Human | 0.96012830 |
| 97 | E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human | 0.95776473 |
| 98 | NFYA_21822215_ChIP-Seq_K562_Human | 0.95135746 |
| 99 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 0.93882877 |
| 100 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 0.93871331 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003878_abnormal_ear_physiology | 5.41507606 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 5.41507606 |
| 3 | MP0005670_abnormal_white_adipose | 4.21673340 |
| 4 | MP0003698_abnormal_male_reproductive | 4.08964135 |
| 5 | MP0001929_abnormal_gametogenesis | 3.51210897 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.33602801 |
| 7 | MP0002132_abnormal_respiratory_system | 2.85239172 |
| 8 | MP0000678_abnormal_parathyroid_gland | 2.51016199 |
| 9 | MP0002161_abnormal_fertility/fecundity | 2.22310782 |
| 10 | MP0005379_endocrine/exocrine_gland_phen | 2.15780327 |
| 11 | MP0003011_delayed_dark_adaptation | 2.04432964 |
| 12 | MP0005410_abnormal_fertilization | 11.5663980 |
| 13 | MP0003646_muscle_fatigue | 1.99002465 |
| 14 | MP0004510_myositis | 1.91393438 |
| 15 | MP0003718_maternal_effect | 1.74596011 |
| 16 | MP0005310_abnormal_salivary_gland | 1.74334319 |
| 17 | MP0005423_abnormal_somatic_nervous | 1.49950665 |
| 18 | MP0002234_abnormal_pharynx_morphology | 1.48182887 |
| 19 | MP0002138_abnormal_hepatobiliary_system | 1.43654397 |
| 20 | MP0002249_abnormal_larynx_morphology | 1.42927033 |
| 21 | MP0002210_abnormal_sex_determination | 1.42318684 |
| 22 | MP0001485_abnormal_pinna_reflex | 1.35573349 |
| 23 | MP0001486_abnormal_startle_reflex | 1.35230205 |
| 24 | MP0002282_abnormal_trachea_morphology | 1.29237392 |
| 25 | MP0001145_abnormal_male_reproductive | 1.24834756 |
| 26 | MP0002735_abnormal_chemical_nociception | 1.22802297 |
| 27 | MP0002822_catalepsy | 1.19047413 |
| 28 | MP0000653_abnormal_sex_gland | 1.18399828 |
| 29 | MP0002127_abnormal_cardiovascular_syste | 1.17949634 |
| 30 | MP0008877_abnormal_DNA_methylation | 1.15618290 |
| 31 | MP0005451_abnormal_body_composition | 1.15437789 |
| 32 | MP0001968_abnormal_touch/_nociception | 1.13700526 |
| 33 | MP0001765_abnormal_ion_homeostasis | 1.09935056 |
| 34 | MP0004742_abnormal_vestibular_system | 1.06147086 |
| 35 | MP0000681_abnormal_thyroid_gland | 1.01768343 |
| 36 | MP0009053_abnormal_anal_canal | 1.01567682 |
| 37 | MP0001963_abnormal_hearing_physiology | 0.99673675 |
| 38 | MP0005248_abnormal_Harderian_gland | 0.98970451 |
| 39 | MP0003436_decreased_susceptibility_to | 0.97162329 |
| 40 | MP0000026_abnormal_inner_ear | 0.93886510 |
| 41 | MP0006292_abnormal_olfactory_placode | 0.90258953 |
| 42 | MP0009764_decreased_sensitivity_to | 0.89033814 |
| 43 | MP0003724_increased_susceptibility_to | 0.88331030 |
| 44 | MP0001835_abnormal_antigen_presentation | 0.86826545 |
| 45 | MP0002733_abnormal_thermal_nociception | 0.85676473 |
| 46 | MP0005167_abnormal_blood-brain_barrier | 0.83544322 |
| 47 | MP0005084_abnormal_gallbladder_morpholo | 0.83451712 |
| 48 | MP0008961_abnormal_basal_metabolism | 0.81865389 |
| 49 | MP0009115_abnormal_fat_cell | 0.80838467 |
| 50 | MP0002163_abnormal_gland_morphology | 0.78817885 |
| 51 | MP0003303_peritoneal_inflammation | 0.76121583 |
| 52 | MP0005395_other_phenotype | 0.74430172 |
| 53 | MP0003879_abnormal_hair_cell | 0.73161315 |
| 54 | MP0009785_altered_susceptibility_to | 0.72637939 |
| 55 | MP0000534_abnormal_ureter_morphology | 0.71670183 |
| 56 | MP0008995_early_reproductive_senescence | 0.71201545 |
| 57 | MP0002723_abnormal_immune_serum | 0.70617624 |
| 58 | MP0005666_abnormal_adipose_tissue | 0.69774737 |
| 59 | MP0002419_abnormal_innate_immunity | 0.69330564 |
| 60 | MP0002067_abnormal_sensory_capabilities | 0.68095577 |
| 61 | MP0001800_abnormal_humoral_immune | 0.67098863 |
| 62 | MP0002229_neurodegeneration | 0.66959277 |
| 63 | MP0000249_abnormal_blood_vessel | 0.66121990 |
| 64 | MP0002928_abnormal_bile_duct | 0.63424259 |
| 65 | MP0000470_abnormal_stomach_morphology | 0.63244502 |
| 66 | MP0005025_abnormal_response_to | 0.61800602 |
| 67 | MP0005397_hematopoietic_system_phenotyp | 0.60726526 |
| 68 | MP0001545_abnormal_hematopoietic_system | 0.60726526 |
| 69 | MP0005551_abnormal_eye_electrophysiolog | 0.60449147 |
| 70 | MP0004484_altered_response_of | 0.58824690 |
| 71 | MP0005367_renal/urinary_system_phenotyp | 0.58576527 |
| 72 | MP0000516_abnormal_urinary_system | 0.58576527 |
| 73 | MP0009278_abnormal_bone_marrow | 0.57366628 |
| 74 | MP0001533_abnormal_skeleton_physiology | 0.56932057 |
| 75 | MP0005166_decreased_susceptibility_to | 0.56275161 |
| 76 | MP0000703_abnormal_thymus_morphology | 0.56052318 |
| 77 | MP0000955_abnormal_spinal_cord | 0.55508117 |
| 78 | MP0002653_abnormal_ependyma_morphology | 0.55209991 |
| 79 | MP0005535_abnormal_body_temperature | 0.55134262 |
| 80 | MP0005636_abnormal_mineral_homeostasis | 0.54580648 |
| 81 | MP0002452_abnormal_antigen_presenting | 0.54478451 |
| 82 | MP0005000_abnormal_immune_tolerance | 0.54063810 |
| 83 | MP0003172_abnormal_lysosome_physiology | 0.53353339 |
| 84 | MP0001970_abnormal_pain_threshold | 0.52250017 |
| 85 | MP0005375_adipose_tissue_phenotype | 0.52069598 |
| 86 | MP0001905_abnormal_dopamine_level | 0.51883657 |
| 87 | MP0005647_abnormal_sex_gland | 0.51570548 |
| 88 | MP0001879_abnormal_lymphatic_vessel | 0.50725090 |
| 89 | MP0000049_abnormal_middle_ear | 0.49324818 |
| 90 | MP0001873_stomach_inflammation | 0.49030689 |
| 91 | MP0003183_abnormal_peptide_metabolism | 0.47939422 |
| 92 | MP0004085_abnormal_heartbeat | 0.46470193 |
| 93 | MP0002420_abnormal_adaptive_immunity | 0.46060719 |
| 94 | MP0001819_abnormal_immune_cell | 0.43894386 |
| 95 | MP0002722_abnormal_immune_system | 0.43468507 |
| 96 | MP0005083_abnormal_biliary_tract | 0.42712527 |
| 97 | MP0008569_lethality_at_weaning | 0.42323090 |
| 98 | MP0002398_abnormal_bone_marrow | 0.42208614 |
| 99 | MP0001440_abnormal_grooming_behavior | 0.42188819 |
| 100 | MP0001501_abnormal_sleep_pattern | 0.41366794 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 8.03979429 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.12898695 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 6.12898695 |
| 4 | Asymmetric septal hypertrophy (HP:0001670) | 5.39914608 |
| 5 | Attenuation of retinal blood vessels (HP:0007843) | 5.14913404 |
| 6 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.74305947 |
| 7 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.65998852 |
| 8 | Abnormal ciliary motility (HP:0012262) | 4.42506805 |
| 9 | Resting tremor (HP:0002322) | 4.37923252 |
| 10 | Tubulointerstitial nephritis (HP:0001970) | 4.37541443 |
| 11 | Nasal polyposis (HP:0100582) | 4.32965840 |
| 12 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.29876891 |
| 13 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.29876891 |
| 14 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.23607144 |
| 15 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.05992775 |
| 16 | Chronic hepatic failure (HP:0100626) | 4.04041357 |
| 17 | Hyperkalemia (HP:0002153) | 3.95801868 |
| 18 | Enlarged epiphyses (HP:0010580) | 3.92804096 |
| 19 | Abnormality of macular pigmentation (HP:0008002) | 3.85739305 |
| 20 | Infertility (HP:0000789) | 3.79155640 |
| 21 | Potter facies (HP:0002009) | 3.76338310 |
| 22 | Facial shape deformation (HP:0011334) | 3.76338310 |
| 23 | Cone-rod dystrophy (HP:0000548) | 3.57896978 |
| 24 | Male infertility (HP:0003251) | 3.56039054 |
| 25 | Bell-shaped thorax (HP:0001591) | 3.55958325 |
| 26 | Azoospermia (HP:0000027) | 3.54275848 |
| 27 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.51025453 |
| 28 | Abnormal spermatogenesis (HP:0008669) | 3.48339273 |
| 29 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.43044235 |
| 30 | Unilateral renal agenesis (HP:0000122) | 3.42014011 |
| 31 | Abnormality of the nasal mucosa (HP:0000433) | 3.41394699 |
| 32 | Hypoplastic ischia (HP:0003175) | 3.38226694 |
| 33 | Abnormality of the costochondral junction (HP:0000919) | 3.04263059 |
| 34 | Impulsivity (HP:0100710) | 3.04001080 |
| 35 | Postural instability (HP:0002172) | 2.98783712 |
| 36 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.89671824 |
| 37 | Abnormality of the ischium (HP:0003174) | 2.85602910 |
| 38 | Hypoplasia of the thymus (HP:0000778) | 2.85413874 |
| 39 | Amelogenesis imperfecta (HP:0000705) | 2.81722120 |
| 40 | Abnormal urine output (HP:0012590) | 2.77833356 |
| 41 | Double outlet right ventricle (HP:0001719) | 2.66372021 |
| 42 | Congenital malformation of the right heart (HP:0011723) | 2.66372021 |
| 43 | Progressive cerebellar ataxia (HP:0002073) | 2.64464639 |
| 44 | Generalized aminoaciduria (HP:0002909) | 2.61735442 |
| 45 | Nephronophthisis (HP:0000090) | 2.61682405 |
| 46 | Abnormality of the aortic arch (HP:0012303) | 2.61077365 |
| 47 | Renal dysplasia (HP:0000110) | 2.59632181 |
| 48 | Abnormality of dental color (HP:0011073) | 2.55578361 |
| 49 | Abnormal drinking behavior (HP:0030082) | 2.48669315 |
| 50 | Polydipsia (HP:0001959) | 2.48669315 |
| 51 | Stage 5 chronic kidney disease (HP:0003774) | 2.45561834 |
| 52 | Tetany (HP:0001281) | 2.41162818 |
| 53 | Recurrent pneumonia (HP:0006532) | 2.38241222 |
| 54 | Abnormality of potassium homeostasis (HP:0011042) | 2.37148439 |
| 55 | Truncal obesity (HP:0001956) | 2.35679714 |
| 56 | Abnormality of renal excretion (HP:0011036) | 2.34225609 |
| 57 | Portal hypertension (HP:0001409) | 2.32791061 |
| 58 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 2.31167765 |
| 59 | Polyuria (HP:0000103) | 2.28521475 |
| 60 | Widely patent fontanelles and sutures (HP:0004492) | 2.24354537 |
| 61 | Abnormality of the renal medulla (HP:0100957) | 2.21404381 |
| 62 | Menstrual irregularities (HP:0000858) | 2.19398947 |
| 63 | Abnormality of the pubic bones (HP:0003172) | 2.17421794 |
| 64 | Rhinitis (HP:0012384) | 2.16032607 |
| 65 | Tubulointerstitial abnormality (HP:0001969) | 2.14453518 |
| 66 | Abnormality of the hepatic vasculature (HP:0006707) | 2.11347504 |
| 67 | Hypoalphalipoproteinemia (HP:0003233) | 2.11142605 |
| 68 | Osteomalacia (HP:0002749) | 2.09973202 |
| 69 | Ventricular tachycardia (HP:0004756) | 2.06392223 |
| 70 | Progressive sensorineural hearing impairment (HP:0000408) | 2.03692118 |
| 71 | Congenital sensorineural hearing impairment (HP:0008527) | 2.03672198 |
| 72 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.03345636 |
| 73 | Hyperthyroidism (HP:0000836) | 2.03012528 |
| 74 | Bronchiectasis (HP:0002110) | 2.02446008 |
| 75 | Hypochromic microcytic anemia (HP:0004840) | 2.00774621 |
| 76 | Abnormality of the parathyroid morphology (HP:0011766) | 1.97848765 |
| 77 | Renal Fanconi syndrome (HP:0001994) | 1.97107693 |
| 78 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.94963004 |
| 79 | Gingivitis (HP:0000230) | 1.91418924 |
| 80 | Decreased central vision (HP:0007663) | 1.90555331 |
| 81 | Epiphyseal dysplasia (HP:0002656) | 1.89503132 |
| 82 | Hyponatremia (HP:0002902) | 1.86280685 |
| 83 | Gastrointestinal infarctions (HP:0005244) | 1.84261123 |
| 84 | Chronic obstructive pulmonary disease (HP:0006510) | 1.82911112 |
| 85 | Obstructive lung disease (HP:0006536) | 1.82911112 |
| 86 | Abnormal ventriculo-arterial connection (HP:0011563) | 1.81457322 |
| 87 | Transposition of the great arteries (HP:0001669) | 1.81457322 |
| 88 | Abnormal connection of the cardiac segments (HP:0011545) | 1.81457322 |
| 89 | Short ribs (HP:0000773) | 1.78016756 |
| 90 | Optic nerve hypoplasia (HP:0000609) | 1.77860027 |
| 91 | Flattened epiphyses (HP:0003071) | 1.76424838 |
| 92 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 1.76111598 |
| 93 | Abnormality of femoral epiphyses (HP:0006499) | 1.76111598 |
| 94 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.75614808 |
| 95 | Absent epiphyses (HP:0010577) | 1.75614808 |
| 96 | Abnormality of chloride homeostasis (HP:0011422) | 1.73447634 |
| 97 | Photophobia (HP:0000613) | 1.72728952 |
| 98 | Abnormality of the femoral head (HP:0003368) | 1.72722290 |
| 99 | Aplasia/Hypoplasia of the thymus (HP:0010515) | 1.70432457 |
| 100 | Amblyopia (HP:0000646) | 1.69054576 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 8.20772571 |
| 2 | TESK1 | 5.46558401 |
| 3 | DDR2 | 4.54109345 |
| 4 | INSRR | 3.72211111 |
| 5 | BRD4 | 3.25278270 |
| 6 | MAP4K2 | 2.82567978 |
| 7 | STK38 | 2.74304235 |
| 8 | PLK2 | 2.58587288 |
| 9 | MAPK15 | 2.34404413 |
| 10 | PNCK | 1.94362472 |
| 11 | PIK3CG | 1.93264796 |
| 12 | PRKD3 | 1.92782171 |
| 13 | WNK1 | 1.76023972 |
| 14 | CAMK1G | 1.72056226 |
| 15 | RIPK4 | 1.64084442 |
| 16 | DYRK1B | 1.61629053 |
| 17 | PDK1 | 1.61161257 |
| 18 | CDK12 | 1.59985679 |
| 19 | PDPK1 | 1.59192094 |
| 20 | STK38L | 1.51738543 |
| 21 | PTK2B | 1.46804210 |
| 22 | TXK | 1.44464552 |
| 23 | BLK | 1.43092073 |
| 24 | MAP3K11 | 1.39267412 |
| 25 | KSR2 | 1.30051597 |
| 26 | CDK7 | 1.27468954 |
| 27 | AKT3 | 1.25447828 |
| 28 | SIK2 | 1.21969705 |
| 29 | MAP3K2 | 1.07971997 |
| 30 | MST1R | 0.96850997 |
| 31 | MAP4K1 | 0.96813533 |
| 32 | PRKG2 | 0.91347364 |
| 33 | NEK6 | 0.86885384 |
| 34 | MAP2K2 | 0.81518824 |
| 35 | UHMK1 | 0.79005668 |
| 36 | MAP3K1 | 0.77104884 |
| 37 | GRK6 | 0.73685235 |
| 38 | PRKAA2 | 0.72988917 |
| 39 | JAK3 | 0.72608257 |
| 40 | RPS6KA1 | 0.70284913 |
| 41 | CDK3 | 0.67349193 |
| 42 | MAP3K9 | 0.66436731 |
| 43 | IKBKB | 0.64750616 |
| 44 | PRKG1 | 0.64722331 |
| 45 | BRAF | 0.64046030 |
| 46 | CAMK1 | 0.57979537 |
| 47 | SGK494 | 0.57973997 |
| 48 | SGK223 | 0.57973997 |
| 49 | CAMK1D | 0.55369448 |
| 50 | MAP2K3 | 0.54953174 |
| 51 | RPS6KA2 | 0.54153239 |
| 52 | SYK | 0.53842729 |
| 53 | PASK | 0.52370971 |
| 54 | CDK4 | 0.50058574 |
| 55 | WNK4 | 0.49887334 |
| 56 | RPS6KC1 | 0.48403160 |
| 57 | RPS6KL1 | 0.48403160 |
| 58 | IRAK4 | 0.48308400 |
| 59 | TYRO3 | 0.48256278 |
| 60 | RPS6KA6 | 0.45856886 |
| 61 | CAMK4 | 0.45119210 |
| 62 | MAP3K8 | 0.45030586 |
| 63 | SGK2 | 0.44596296 |
| 64 | TESK2 | 0.39955109 |
| 65 | MAPK1 | 0.39937204 |
| 66 | MAP3K3 | 0.39258338 |
| 67 | TAOK3 | 0.39143313 |
| 68 | MARK3 | 0.38595915 |
| 69 | ZAK | 0.38483615 |
| 70 | MARK2 | 0.37827517 |
| 71 | SGK1 | 0.37524352 |
| 72 | MAPK8 | 0.36869208 |
| 73 | MUSK | 0.36842278 |
| 74 | IKBKE | 0.36775073 |
| 75 | NTRK3 | 0.36192629 |
| 76 | TAOK1 | 0.35893362 |
| 77 | TNK2 | 0.35792852 |
| 78 | MAP3K7 | 0.34164563 |
| 79 | CDK2 | 0.33627489 |
| 80 | GSK3B | 0.33456908 |
| 81 | FES | 0.32725096 |
| 82 | CSK | 0.32517231 |
| 83 | SGK3 | 0.30637763 |
| 84 | PRKCZ | 0.30087499 |
| 85 | ZAP70 | 0.29980529 |
| 86 | JAK2 | 0.29411845 |
| 87 | TLK1 | 0.29017077 |
| 88 | HCK | 0.28932515 |
| 89 | CHUK | 0.27678938 |
| 90 | BTK | 0.26748241 |
| 91 | STK11 | 0.25417308 |
| 92 | LYN | 0.24914910 |
| 93 | CDK1 | 0.24446408 |
| 94 | DYRK3 | 0.23714119 |
| 95 | AKT1 | 0.23073396 |
| 96 | GRK7 | 0.22215650 |
| 97 | TEC | 0.22116793 |
| 98 | ROCK1 | 0.21463839 |
| 99 | MAP3K13 | 0.21438843 |
| 100 | ADRBK2 | 0.19535192 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 6.35750010 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 5.20047104 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.69099174 |
| 4 | Allograft rejection_Homo sapiens_hsa05330 | 2.79922256 |
| 5 | Graft-versus-host disease_Homo sapiens_hsa05332 | 2.71279969 |
| 6 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 2.67531415 |
| 7 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 2.63418091 |
| 8 | Antigen processing and presentation_Homo sapiens_hsa04612 | 2.15745638 |
| 9 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.94292710 |
| 10 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.93827939 |
| 11 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.91746119 |
| 12 | Taste transduction_Homo sapiens_hsa04742 | 1.67410193 |
| 13 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.64248890 |
| 14 | Viral myocarditis_Homo sapiens_hsa05416 | 1.63081771 |
| 15 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.61061779 |
| 16 | Influenza A_Homo sapiens_hsa05164 | 1.32962297 |
| 17 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.16366617 |
| 18 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.15878874 |
| 19 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.11816331 |
| 20 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 1.09596927 |
| 21 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 1.08858387 |
| 22 | Morphine addiction_Homo sapiens_hsa05032 | 1.08297311 |
| 23 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.06506230 |
| 24 | Endocytosis_Homo sapiens_hsa04144 | 1.06371593 |
| 25 | Leishmaniasis_Homo sapiens_hsa05140 | 1.06351303 |
| 26 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.05617655 |
| 27 | Osteoclast differentiation_Homo sapiens_hsa04380 | 1.04434093 |
| 28 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 1.03998682 |
| 29 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.03903872 |
| 30 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.98905502 |
| 31 | RNA transport_Homo sapiens_hsa03013 | 0.96873900 |
| 32 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.92986205 |
| 33 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.90409360 |
| 34 | Salivary secretion_Homo sapiens_hsa04970 | 0.89621652 |
| 35 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.88120700 |
| 36 | Chemokine signaling pathway_Homo sapiens_hsa04062 | 0.87656151 |
| 37 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.85889086 |
| 38 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.82282206 |
| 39 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.82256363 |
| 40 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.81177749 |
| 41 | Phototransduction_Homo sapiens_hsa04744 | 0.79085904 |
| 42 | Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650 | 0.77786503 |
| 43 | Legionellosis_Homo sapiens_hsa05134 | 0.75675728 |
| 44 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.73942567 |
| 45 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.73425078 |
| 46 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.73414859 |
| 47 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.72857838 |
| 48 | Circadian entrainment_Homo sapiens_hsa04713 | 0.71902428 |
| 49 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.71838375 |
| 50 | T cell receptor signaling pathway_Homo sapiens_hsa04660 | 0.71548843 |
| 51 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.70976734 |
| 52 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.65685859 |
| 53 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.63596431 |
| 54 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.62990683 |
| 55 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.62938526 |
| 56 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.62124331 |
| 57 | ABC transporters_Homo sapiens_hsa02010 | 0.60633756 |
| 58 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.57643419 |
| 59 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.57559051 |
| 60 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.57538874 |
| 61 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.56406294 |
| 62 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.56386257 |
| 63 | Measles_Homo sapiens_hsa05162 | 0.54848503 |
| 64 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 0.54825236 |
| 65 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.53890679 |
| 66 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 0.53856808 |
| 67 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.53434908 |
| 68 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.53305859 |
| 69 | Malaria_Homo sapiens_hsa05144 | 0.53094913 |
| 70 | Fc epsilon RI signaling pathway_Homo sapiens_hsa04664 | 0.52735703 |
| 71 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.52127600 |
| 72 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.50889341 |
| 73 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.50806465 |
| 74 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 0.50322801 |
| 75 | Renin secretion_Homo sapiens_hsa04924 | 0.49306942 |
| 76 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.49128215 |
| 77 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.48810044 |
| 78 | RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622 | 0.47741311 |
| 79 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.46034095 |
| 80 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.45776273 |
| 81 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.44858867 |
| 82 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.44603677 |
| 83 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.42222193 |
| 84 | Purine metabolism_Homo sapiens_hsa00230 | 0.41375350 |
| 85 | African trypanosomiasis_Homo sapiens_hsa05143 | 0.40903967 |
| 86 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.40232299 |
| 87 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.39873450 |
| 88 | Platelet activation_Homo sapiens_hsa04611 | 0.38617853 |
| 89 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.38154193 |
| 90 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.37814662 |
| 91 | TNF signaling pathway_Homo sapiens_hsa04668 | 0.36694208 |
| 92 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.35420550 |
| 93 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.34389986 |
| 94 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.33733881 |
| 95 | Nicotine addiction_Homo sapiens_hsa05033 | 0.33420992 |
| 96 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.33216471 |
| 97 | Tuberculosis_Homo sapiens_hsa05152 | 0.33210608 |
| 98 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.32781279 |
| 99 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.31267736 |
| 100 | Alcoholism_Homo sapiens_hsa05034 | 0.30219234 |

