

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm capacitation (GO:0048240) | 9.71519948 |
| 2 | response to pheromone (GO:0019236) | 9.42405195 |
| 3 | chromosome condensation (GO:0030261) | 9.30133216 |
| 4 | DNA packaging (GO:0006323) | 8.99116093 |
| 5 | plasma membrane fusion (GO:0045026) | 8.96298655 |
| 6 | microtubule depolymerization (GO:0007019) | 8.68941465 |
| 7 | spermatid development (GO:0007286) | 8.43919330 |
| 8 | sexual reproduction (GO:0019953) | 8.17549219 |
| 9 | spermatid nucleus differentiation (GO:0007289) | 8.12919592 |
| 10 | single strand break repair (GO:0000012) | 8.06540740 |
| 11 | sperm-egg recognition (GO:0035036) | 7.79043210 |
| 12 | reproduction (GO:0000003) | 7.32359779 |
| 13 | multicellular organism reproduction (GO:0032504) | 7.30860562 |
| 14 | negative regulation of inclusion body assembly (GO:0090084) | 7.18396785 |
| 15 | binding of sperm to zona pellucida (GO:0007339) | 7.15838413 |
| 16 | calcium ion-dependent exocytosis (GO:0017156) | 6.75496867 |
| 17 | microtubule polymerization or depolymerization (GO:0031109) | 6.74240455 |
| 18 | rRNA methylation (GO:0031167) | 6.71950927 |
| 19 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.50054125 |
| 20 | protein polyglutamylation (GO:0018095) | 6.42261278 |
| 21 | cell-cell recognition (GO:0009988) | 6.40890589 |
| 22 | cellular ketone body metabolic process (GO:0046950) | 6.10454173 |
| 23 | spermatogenesis (GO:0007283) | 6.03003711 |
| 24 | male gamete generation (GO:0048232) | 6.00818153 |
| 25 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.97560403 |
| 26 | rRNA modification (GO:0000154) | 5.93079496 |
| 27 | axonemal dynein complex assembly (GO:0070286) | 5.89376301 |
| 28 | microtubule severing (GO:0051013) | 5.85726273 |
| 29 | protein targeting to Golgi (GO:0000042) | 5.69756063 |
| 30 | gamete generation (GO:0007276) | 5.51057215 |
| 31 | establishment of protein localization to Golgi (GO:0072600) | 5.47037397 |
| 32 | ketone body metabolic process (GO:1902224) | 5.39171050 |
| 33 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.28257739 |
| 34 | regulation of Rab GTPase activity (GO:0032313) | 5.24207535 |
| 35 | positive regulation of Rab GTPase activity (GO:0032851) | 5.24207535 |
| 36 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 5.18292124 |
| 37 | regulation of inclusion body assembly (GO:0090083) | 5.10391383 |
| 38 | centriole replication (GO:0007099) | 5.05671595 |
| 39 | regulation of cilium movement (GO:0003352) | 4.98491346 |
| 40 | single fertilization (GO:0007338) | 4.95727778 |
| 41 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.89180093 |
| 42 | cell wall macromolecule catabolic process (GO:0016998) | 4.67273147 |
| 43 | germ cell development (GO:0007281) | 4.66703382 |
| 44 | motile cilium assembly (GO:0044458) | 4.57957201 |
| 45 | centriole assembly (GO:0098534) | 4.52881790 |
| 46 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.43613408 |
| 47 | chromatin silencing (GO:0006342) | 4.43425882 |
| 48 | multicellular organismal reproductive process (GO:0048609) | 4.41640621 |
| 49 | cell wall macromolecule metabolic process (GO:0044036) | 4.38968476 |
| 50 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.30137109 |
| 51 | RNA destabilization (GO:0050779) | 4.29095654 |
| 52 | seminiferous tubule development (GO:0072520) | 4.24720634 |
| 53 | protein localization to Golgi apparatus (GO:0034067) | 4.09799027 |
| 54 | coenzyme catabolic process (GO:0009109) | 4.03556717 |
| 55 | nucleus organization (GO:0006997) | 4.03253490 |
| 56 | fertilization (GO:0009566) | 4.01655523 |
| 57 | organic cation transport (GO:0015695) | 3.80081132 |
| 58 | regulation of centriole replication (GO:0046599) | 3.74836990 |
| 59 | response to acidic pH (GO:0010447) | 3.74020663 |
| 60 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.69588530 |
| 61 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.66893457 |
| 62 | regulation of microtubule-based movement (GO:0060632) | 3.63624832 |
| 63 | musculoskeletal movement (GO:0050881) | 3.63340575 |
| 64 | multicellular organismal movement (GO:0050879) | 3.63340575 |
| 65 | epithelial cilium movement (GO:0003351) | 3.57081684 |
| 66 | glycerol ether metabolic process (GO:0006662) | 3.51972128 |
| 67 | cellular response to pH (GO:0071467) | 3.50142791 |
| 68 | polyamine biosynthetic process (GO:0006596) | 3.49863113 |
| 69 | regulation of somitogenesis (GO:0014807) | 3.39876210 |
| 70 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.36403656 |
| 71 | nucleosome disassembly (GO:0006337) | 3.36385414 |
| 72 | protein-DNA complex disassembly (GO:0032986) | 3.36385414 |
| 73 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.33728741 |
| 74 | cerebral cortex neuron differentiation (GO:0021895) | 3.26986108 |
| 75 | ether metabolic process (GO:0018904) | 3.24527171 |
| 76 | homeostasis of number of cells within a tissue (GO:0048873) | 3.24374952 |
| 77 | protein depolymerization (GO:0051261) | 3.23248358 |
| 78 | regulation of interleukin-13 production (GO:0032656) | 3.20872607 |
| 79 | cilium movement (GO:0003341) | 3.20657671 |
| 80 | cell differentiation involved in metanephros development (GO:0072202) | 3.13106452 |
| 81 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 3.13079440 |
| 82 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 3.13079440 |
| 83 | regulation of T-helper 2 cell differentiation (GO:0045628) | 3.10767271 |
| 84 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.10019426 |
| 85 | multicellular organismal development (GO:0007275) | 3.06651947 |
| 86 | cranial nerve morphogenesis (GO:0021602) | 3.06121583 |
| 87 | histone H3-K9 demethylation (GO:0033169) | 3.00981908 |
| 88 | cell recognition (GO:0008037) | 2.99814944 |
| 89 | NAD biosynthetic process (GO:0009435) | 2.99314252 |
| 90 | DNA conformation change (GO:0071103) | 2.92229558 |
| 91 | negative regulation of mesenchymal cell apoptotic process (GO:2001054) | 2.89324216 |
| 92 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 2.81256056 |
| 93 | mast cell activation involved in immune response (GO:0002279) | 2.77818685 |
| 94 | mast cell degranulation (GO:0043303) | 2.77818685 |
| 95 | tooth mineralization (GO:0034505) | 2.76684307 |
| 96 | mitotic G1 DNA damage checkpoint (GO:0031571) | 2.76536252 |
| 97 | actin filament capping (GO:0051693) | 2.71557176 |
| 98 | acrosome reaction (GO:0007340) | 12.4917254 |
| 99 | fusion of sperm to egg plasma membrane (GO:0007342) | 11.8253292 |
| 100 | sperm motility (GO:0030317) | 11.7098571 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 5.41648042 |
| 2 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.91557398 |
| 3 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.43454142 |
| 4 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.43063719 |
| 5 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.43063719 |
| 6 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 2.41549221 |
| 7 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.35489404 |
| 8 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.20443715 |
| 9 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.04085827 |
| 10 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.04085827 |
| 11 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 2.00745017 |
| 12 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.00676029 |
| 13 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.97745623 |
| 14 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.97532437 |
| 15 | ERA_21632823_ChIP-Seq_H3396_Human | 1.97252505 |
| 16 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.96941897 |
| 17 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.94794634 |
| 18 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.93849079 |
| 19 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.93088593 |
| 20 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.92439657 |
| 21 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.90995792 |
| 22 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.89788690 |
| 23 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.86452003 |
| 24 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.84982556 |
| 25 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.78997772 |
| 26 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.78025036 |
| 27 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.77486801 |
| 28 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.76985698 |
| 29 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.71938187 |
| 30 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.70409797 |
| 31 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.70131727 |
| 32 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.68864106 |
| 33 | P68_20966046_ChIP-Seq_HELA_Human | 1.65994409 |
| 34 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.64111298 |
| 35 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.60552565 |
| 36 | P300_27268052_Chip-Seq_Bcells_Human | 1.57908866 |
| 37 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.57453612 |
| 38 | FUS_26573619_Chip-Seq_HEK293_Human | 1.55167162 |
| 39 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.54869005 |
| 40 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.52941851 |
| 41 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.51570197 |
| 42 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.49813608 |
| 43 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.49520283 |
| 44 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.48734981 |
| 45 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.46867939 |
| 46 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.46224824 |
| 47 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.44247252 |
| 48 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.38618945 |
| 49 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.36908794 |
| 50 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.36850851 |
| 51 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.36784015 |
| 52 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.35707275 |
| 53 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.33989079 |
| 54 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.33608966 |
| 55 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.33444103 |
| 56 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.32594733 |
| 57 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.32279841 |
| 58 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.31068627 |
| 59 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.29833181 |
| 60 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.29288851 |
| 61 | AR_25329375_ChIP-Seq_VCAP_Human | 1.28975542 |
| 62 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.28165709 |
| 63 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.27640365 |
| 64 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.26683208 |
| 65 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.24514316 |
| 66 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.24483575 |
| 67 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.24447851 |
| 68 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.24022103 |
| 69 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.23397449 |
| 70 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.22700426 |
| 71 | SA1_27219007_Chip-Seq_Bcells_Human | 1.21880974 |
| 72 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.21120997 |
| 73 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.17653569 |
| 74 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.15974576 |
| 75 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.15608957 |
| 76 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.14594014 |
| 77 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 1.12786390 |
| 78 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.12324313 |
| 79 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.12249898 |
| 80 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.10800741 |
| 81 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.10152165 |
| 82 | CSB_26484114_Chip-Seq_FIBROBLAST_Human | 1.09160290 |
| 83 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.08829916 |
| 84 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 1.08513754 |
| 85 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.06912514 |
| 86 | NFYB_21822215_ChIP-Seq_K562_Human | 1.06904233 |
| 87 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.06550048 |
| 88 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 1.04140993 |
| 89 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.02790022 |
| 90 | VDR_24787735_ChIP-Seq_THP-1_Human | 1.00836484 |
| 91 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.00143753 |
| 92 | SPI1_20517297_ChIP-Seq_HL60_Human | 0.99456148 |
| 93 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 0.98488709 |
| 94 | NANOG_19829295_ChIP-Seq_ESCs_Human | 0.97648759 |
| 95 | SOX2_19829295_ChIP-Seq_ESCs_Human | 0.97648759 |
| 96 | PHF8_20622853_ChIP-Seq_HELA_Human | 0.96877578 |
| 97 | OCT4_19829295_ChIP-Seq_ESCs_Human | 0.96828963 |
| 98 | TBL1_22424771_ChIP-Seq_293T_Human | 0.96800762 |
| 99 | HOXB7_26014856_ChIP-Seq_BT474_Human | 0.96336957 |
| 100 | SOX11_22085726_ChIP-Seq_ESNs_Mouse | 0.96260031 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005670_abnormal_white_adipose | 4.76111950 |
| 2 | MP0003878_abnormal_ear_physiology | 4.74949867 |
| 3 | MP0005377_hearing/vestibular/ear_phenot | 4.74949867 |
| 4 | MP0003698_abnormal_male_reproductive | 4.47153637 |
| 5 | MP0001929_abnormal_gametogenesis | 3.84217590 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.06988406 |
| 7 | MP0000678_abnormal_parathyroid_gland | 2.62918493 |
| 8 | MP0003011_delayed_dark_adaptation | 2.60056638 |
| 9 | MP0002161_abnormal_fertility/fecundity | 2.53101298 |
| 10 | MP0003718_maternal_effect | 2.17743967 |
| 11 | MP0002132_abnormal_respiratory_system | 2.13973048 |
| 12 | MP0005410_abnormal_fertilization | 12.5352971 |
| 13 | MP0002234_abnormal_pharynx_morphology | 1.88185513 |
| 14 | MP0003646_muscle_fatigue | 1.81065164 |
| 15 | MP0005423_abnormal_somatic_nervous | 1.72835839 |
| 16 | MP0002210_abnormal_sex_determination | 1.63152453 |
| 17 | MP0002249_abnormal_larynx_morphology | 1.60709351 |
| 18 | MP0002822_catalepsy | 1.49039263 |
| 19 | MP0004510_myositis | 1.48670826 |
| 20 | MP0009053_abnormal_anal_canal | 1.45727945 |
| 21 | MP0005379_endocrine/exocrine_gland_phen | 1.45274284 |
| 22 | MP0005083_abnormal_biliary_tract | 1.44495738 |
| 23 | MP0005310_abnormal_salivary_gland | 1.37770890 |
| 24 | MP0002282_abnormal_trachea_morphology | 1.37652386 |
| 25 | MP0001145_abnormal_male_reproductive | 1.36172894 |
| 26 | MP0001485_abnormal_pinna_reflex | 1.33943033 |
| 27 | MP0000653_abnormal_sex_gland | 1.30087549 |
| 28 | MP0001765_abnormal_ion_homeostasis | 1.26580343 |
| 29 | MP0001486_abnormal_startle_reflex | 1.22861134 |
| 30 | MP0009697_abnormal_copulation | 1.21391768 |
| 31 | MP0004859_abnormal_synaptic_plasticity | 1.16104199 |
| 32 | MP0001968_abnormal_touch/_nociception | 1.13454464 |
| 33 | MP0002735_abnormal_chemical_nociception | 1.13420909 |
| 34 | MP0002653_abnormal_ependyma_morphology | 1.12778919 |
| 35 | MP0002127_abnormal_cardiovascular_syste | 1.12542851 |
| 36 | MP0000534_abnormal_ureter_morphology | 1.11858016 |
| 37 | MP0002138_abnormal_hepatobiliary_system | 1.10497843 |
| 38 | MP0004742_abnormal_vestibular_system | 1.10334177 |
| 39 | MP0001963_abnormal_hearing_physiology | 0.99318668 |
| 40 | MP0005451_abnormal_body_composition | 0.96540327 |
| 41 | MP0005395_other_phenotype | 0.92829654 |
| 42 | MP0000681_abnormal_thyroid_gland | 0.92546341 |
| 43 | MP0005367_renal/urinary_system_phenotyp | 0.92406224 |
| 44 | MP0000516_abnormal_urinary_system | 0.92406224 |
| 45 | MP0000026_abnormal_inner_ear | 0.92342362 |
| 46 | MP0008569_lethality_at_weaning | 0.91538821 |
| 47 | MP0002229_neurodegeneration | 0.84164868 |
| 48 | MP0008877_abnormal_DNA_methylation | 0.82568099 |
| 49 | MP0005084_abnormal_gallbladder_morpholo | 0.82372770 |
| 50 | MP0003879_abnormal_hair_cell | 0.81157599 |
| 51 | MP0000955_abnormal_spinal_cord | 0.80853097 |
| 52 | MP0000049_abnormal_middle_ear | 0.79876254 |
| 53 | MP0001905_abnormal_dopamine_level | 0.78990414 |
| 54 | MP0005248_abnormal_Harderian_gland | 0.77959581 |
| 55 | MP0005636_abnormal_mineral_homeostasis | 0.77109311 |
| 56 | MP0000003_abnormal_adipose_tissue | 0.76639879 |
| 57 | MP0005375_adipose_tissue_phenotype | 0.74385467 |
| 58 | MP0009115_abnormal_fat_cell | 0.73132116 |
| 59 | MP0004085_abnormal_heartbeat | 0.72869355 |
| 60 | MP0002067_abnormal_sensory_capabilities | 0.71649701 |
| 61 | MP0005666_abnormal_adipose_tissue | 0.71598689 |
| 62 | MP0001666_abnormal_nutrient_absorption | 0.70045238 |
| 63 | MP0005551_abnormal_eye_electrophysiolog | 0.69453663 |
| 64 | MP0001879_abnormal_lymphatic_vessel | 0.66978123 |
| 65 | MP0002733_abnormal_thermal_nociception | 0.66369548 |
| 66 | MP0004484_altered_response_of | 0.65646042 |
| 67 | MP0008961_abnormal_basal_metabolism | 0.62893407 |
| 68 | MP0000613_abnormal_salivary_gland | 0.59713958 |
| 69 | MP0004233_abnormal_muscle_weight | 0.59513249 |
| 70 | MP0005253_abnormal_eye_physiology | 0.58768773 |
| 71 | MP0002557_abnormal_social/conspecific_i | 0.57233260 |
| 72 | MP0001984_abnormal_olfaction | 0.56079402 |
| 73 | MP0008789_abnormal_olfactory_epithelium | 0.52550334 |
| 74 | MP0003137_abnormal_impulse_conducting | 0.50697665 |
| 75 | MP0002572_abnormal_emotion/affect_behav | 0.49769881 |
| 76 | MP0006292_abnormal_olfactory_placode | 0.48611203 |
| 77 | MP0002272_abnormal_nervous_system | 0.47513400 |
| 78 | MP0003699_abnormal_female_reproductive | 0.47381834 |
| 79 | MP0003077_abnormal_cell_cycle | 0.46227235 |
| 80 | MP0000249_abnormal_blood_vessel | 0.45876181 |
| 81 | MP0003880_abnormal_central_pattern | 0.44799409 |
| 82 | MP0001970_abnormal_pain_threshold | 0.44199590 |
| 83 | MP0009764_decreased_sensitivity_to | 0.43822610 |
| 84 | MP0005167_abnormal_blood-brain_barrier | 0.41439811 |
| 85 | MP0000470_abnormal_stomach_morphology | 0.40893790 |
| 86 | MP0005166_decreased_susceptibility_to | 0.40625987 |
| 87 | MP0005535_abnormal_body_temperature | 0.39812572 |
| 88 | MP0002734_abnormal_mechanical_nocicepti | 0.39692583 |
| 89 | MP0001440_abnormal_grooming_behavior | 0.39615516 |
| 90 | MP0008995_early_reproductive_senescence | 0.38638762 |
| 91 | MP0009745_abnormal_behavioral_response | 0.36661007 |
| 92 | MP0000230_abnormal_systemic_arterial | 0.35645646 |
| 93 | MP0002928_abnormal_bile_duct | 0.35159263 |
| 94 | MP0005394_taste/olfaction_phenotype | 0.34124931 |
| 95 | MP0005499_abnormal_olfactory_system | 0.34124931 |
| 96 | MP0003936_abnormal_reproductive_system | 0.33894974 |
| 97 | MP0003119_abnormal_digestive_system | 0.33499635 |
| 98 | MP0005647_abnormal_sex_gland | 0.33312134 |
| 99 | MP0001545_abnormal_hematopoietic_system | 0.30860026 |
| 100 | MP0005397_hematopoietic_system_phenotyp | 0.30860026 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 8.68301836 |
| 2 | Attenuation of retinal blood vessels (HP:0007843) | 5.51573091 |
| 3 | Bony spicule pigmentary retinopathy (HP:0007737) | 5.48968044 |
| 4 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.34054510 |
| 5 | Absent/shortened dynein arms (HP:0200106) | 5.34054510 |
| 6 | Asymmetric septal hypertrophy (HP:0001670) | 4.99042609 |
| 7 | Bell-shaped thorax (HP:0001591) | 4.92241126 |
| 8 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.82553364 |
| 9 | Resting tremor (HP:0002322) | 4.58764150 |
| 10 | Hypoplastic ischia (HP:0003175) | 4.49776008 |
| 11 | Tubulointerstitial nephritis (HP:0001970) | 4.46828339 |
| 12 | Enlarged epiphyses (HP:0010580) | 4.35410925 |
| 13 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.31236460 |
| 14 | Abnormal ciliary motility (HP:0012262) | 4.21874248 |
| 15 | Hyperkalemia (HP:0002153) | 4.21707549 |
| 16 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.11297927 |
| 17 | Infertility (HP:0000789) | 4.07508858 |
| 18 | Facial shape deformation (HP:0011334) | 4.02156499 |
| 19 | Potter facies (HP:0002009) | 4.02156499 |
| 20 | Abnormality of the ischium (HP:0003174) | 3.97130415 |
| 21 | Chronic hepatic failure (HP:0100626) | 3.96278203 |
| 22 | Male infertility (HP:0003251) | 3.96274915 |
| 23 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.94049748 |
| 24 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.94049748 |
| 25 | Abnormality of macular pigmentation (HP:0008002) | 3.90042219 |
| 26 | Hypoplasia of the thymus (HP:0000778) | 3.80927050 |
| 27 | Nasal polyposis (HP:0100582) | 3.76762735 |
| 28 | Azoospermia (HP:0000027) | 3.68656889 |
| 29 | Abnormal spermatogenesis (HP:0008669) | 3.59655407 |
| 30 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 3.57941132 |
| 31 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.44439715 |
| 32 | Generalized aminoaciduria (HP:0002909) | 3.44167824 |
| 33 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.42679536 |
| 34 | Unilateral renal agenesis (HP:0000122) | 3.35937175 |
| 35 | Impulsivity (HP:0100710) | 3.29141680 |
| 36 | Cone-rod dystrophy (HP:0000548) | 3.21681006 |
| 37 | Abnormality of the nasal mucosa (HP:0000433) | 3.02570253 |
| 38 | Double outlet right ventricle (HP:0001719) | 3.00238491 |
| 39 | Congenital malformation of the right heart (HP:0011723) | 3.00238491 |
| 40 | Postural instability (HP:0002172) | 2.99212695 |
| 41 | Menstrual irregularities (HP:0000858) | 2.75194267 |
| 42 | Abnormality of the parathyroid morphology (HP:0011766) | 2.71458441 |
| 43 | Abnormality of potassium homeostasis (HP:0011042) | 2.69271695 |
| 44 | Epiphyseal dysplasia (HP:0002656) | 2.68382061 |
| 45 | Abnormal urine output (HP:0012590) | 2.67549751 |
| 46 | Abnormality of the aortic arch (HP:0012303) | 2.65427965 |
| 47 | Progressive sensorineural hearing impairment (HP:0000408) | 2.64789489 |
| 48 | Renal dysplasia (HP:0000110) | 2.62148879 |
| 49 | Nephronophthisis (HP:0000090) | 2.58004198 |
| 50 | Absent epiphyses (HP:0010577) | 2.55058976 |
| 51 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 2.55058976 |
| 52 | Abnormality of the costochondral junction (HP:0000919) | 2.52553048 |
| 53 | Rhinitis (HP:0012384) | 2.45642467 |
| 54 | Hypoalphalipoproteinemia (HP:0003233) | 2.44515614 |
| 55 | Recurrent pneumonia (HP:0006532) | 2.43579793 |
| 56 | Failure to thrive in infancy (HP:0001531) | 2.38141870 |
| 57 | Portal hypertension (HP:0001409) | 2.37076804 |
| 58 | Truncal obesity (HP:0001956) | 2.34819350 |
| 59 | Amelogenesis imperfecta (HP:0000705) | 2.32697469 |
| 60 | Stage 5 chronic kidney disease (HP:0003774) | 2.32315218 |
| 61 | Abnormality of renal excretion (HP:0011036) | 2.28754111 |
| 62 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.24820569 |
| 63 | Flattened epiphyses (HP:0003071) | 2.23558928 |
| 64 | Renovascular hypertension (HP:0100817) | 2.22042769 |
| 65 | Abnormality of the pubic bones (HP:0003172) | 2.17891829 |
| 66 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 2.17196700 |
| 67 | Abnormality of the hepatic vasculature (HP:0006707) | 2.16044233 |
| 68 | Ventricular tachycardia (HP:0004756) | 2.15438104 |
| 69 | Widely patent fontanelles and sutures (HP:0004492) | 2.14633515 |
| 70 | Abnormality of the renal medulla (HP:0100957) | 2.12939920 |
| 71 | Tetany (HP:0001281) | 2.12898592 |
| 72 | Muscle fiber atrophy (HP:0100295) | 2.11849532 |
| 73 | Abnormal drinking behavior (HP:0030082) | 2.09870305 |
| 74 | Polydipsia (HP:0001959) | 2.09870305 |
| 75 | Progressive cerebellar ataxia (HP:0002073) | 2.07237513 |
| 76 | Hyperthyroidism (HP:0000836) | 2.03933224 |
| 77 | Polyuria (HP:0000103) | 2.03842021 |
| 78 | Abnormality of femoral epiphyses (HP:0006499) | 2.03115505 |
| 79 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 2.03115505 |
| 80 | Aplasia/Hypoplasia of the thymus (HP:0010515) | 2.02915757 |
| 81 | Tubulointerstitial abnormality (HP:0001969) | 2.01308891 |
| 82 | Vertebral clefting (HP:0008428) | 2.00363555 |
| 83 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 2.00028665 |
| 84 | Abnormality of dental color (HP:0011073) | 1.99496275 |
| 85 | Abnormal ventriculo-arterial connection (HP:0011563) | 1.94422541 |
| 86 | Transposition of the great arteries (HP:0001669) | 1.94422541 |
| 87 | Abnormal connection of the cardiac segments (HP:0011545) | 1.94422541 |
| 88 | Abnormality of the femoral head (HP:0003368) | 1.92832867 |
| 89 | Hyponatremia (HP:0002902) | 1.92726304 |
| 90 | Osteomalacia (HP:0002749) | 1.92254110 |
| 91 | Decreased central vision (HP:0007663) | 1.91289098 |
| 92 | Hypokalemia (HP:0002900) | 1.88162660 |
| 93 | Flat capital femoral epiphysis (HP:0003370) | 1.87939464 |
| 94 | Renal Fanconi syndrome (HP:0001994) | 1.85610103 |
| 95 | Atelectasis (HP:0100750) | 1.84330047 |
| 96 | Short ribs (HP:0000773) | 1.84117257 |
| 97 | Mixed hearing impairment (HP:0000410) | 1.84023368 |
| 98 | Peripheral hypomyelination (HP:0007182) | 1.83857091 |
| 99 | Hypoparathyroidism (HP:0000829) | 1.83618462 |
| 100 | Bronchiectasis (HP:0002110) | 1.82704007 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 7.54716158 |
| 2 | TESK1 | 6.87674162 |
| 3 | DDR2 | 5.84820922 |
| 4 | MAP4K2 | 3.73900052 |
| 5 | INSRR | 3.70336477 |
| 6 | STK38 | 3.23729346 |
| 7 | PLK2 | 2.60899550 |
| 8 | MAPK15 | 2.57056288 |
| 9 | PNCK | 2.54463210 |
| 10 | STK38L | 2.24011783 |
| 11 | BRD4 | 2.21580687 |
| 12 | PRKD3 | 2.20936190 |
| 13 | CAMK1G | 1.98689057 |
| 14 | MST1R | 1.81748254 |
| 15 | NME2 | 1.64422488 |
| 16 | WNK1 | 1.60240740 |
| 17 | PDPK1 | 1.54079813 |
| 18 | DYRK1B | 1.48964671 |
| 19 | PIK3CG | 1.40196366 |
| 20 | KIT | 1.39648115 |
| 21 | CDK7 | 1.37495172 |
| 22 | PDK1 | 1.35279878 |
| 23 | VRK2 | 1.33146669 |
| 24 | PTK2B | 1.03769429 |
| 25 | KSR2 | 1.02857375 |
| 26 | CDK12 | 1.01503004 |
| 27 | TESK2 | 0.96398765 |
| 28 | NEK6 | 0.95626616 |
| 29 | MAP3K11 | 0.92211311 |
| 30 | UHMK1 | 0.86464447 |
| 31 | MAP3K9 | 0.76740261 |
| 32 | AKT3 | 0.75987332 |
| 33 | MAP3K2 | 0.73950794 |
| 34 | RPS6KA1 | 0.71319981 |
| 35 | RPS6KA2 | 0.69968330 |
| 36 | BCKDK | 0.69683060 |
| 37 | RIPK4 | 0.68915719 |
| 38 | WNK4 | 0.66180729 |
| 39 | CAMK1D | 0.65596809 |
| 40 | BLK | 0.64120175 |
| 41 | PRKG2 | 0.58721443 |
| 42 | PRKG1 | 0.58603822 |
| 43 | STK39 | 0.58377074 |
| 44 | ROCK1 | 0.57667835 |
| 45 | MAP3K8 | 0.55626570 |
| 46 | BRAF | 0.53978628 |
| 47 | MAP2K2 | 0.52053683 |
| 48 | CDK2 | 0.50276014 |
| 49 | CDK4 | 0.49699333 |
| 50 | LATS2 | 0.49651470 |
| 51 | PRKAA2 | 0.47659879 |
| 52 | MUSK | 0.45938608 |
| 53 | CAMK1 | 0.45470723 |
| 54 | GSK3B | 0.45132451 |
| 55 | VRK1 | 0.44996495 |
| 56 | RPS6KL1 | 0.41951217 |
| 57 | RPS6KC1 | 0.41951217 |
| 58 | RPS6KA6 | 0.39688930 |
| 59 | MAPK1 | 0.39137604 |
| 60 | CDK3 | 0.38642577 |
| 61 | SIK2 | 0.38071977 |
| 62 | CDK1 | 0.36760171 |
| 63 | BMPR1B | 0.35972469 |
| 64 | MAP3K1 | 0.35970889 |
| 65 | ABL2 | 0.35743016 |
| 66 | PRKCZ | 0.35452401 |
| 67 | PRKCG | 0.32567733 |
| 68 | MAPK8 | 0.32521344 |
| 69 | MTOR | 0.31025707 |
| 70 | TLK1 | 0.28737247 |
| 71 | SGK494 | 0.27055004 |
| 72 | SGK223 | 0.27055004 |
| 73 | CHEK1 | 0.26876416 |
| 74 | CAMK4 | 0.26244078 |
| 75 | JAK3 | 0.25398778 |
| 76 | PINK1 | 0.24876237 |
| 77 | RIPK1 | 0.24333683 |
| 78 | NTRK3 | 0.23490087 |
| 79 | GRK6 | 0.23316726 |
| 80 | PRKCB | 0.22915268 |
| 81 | CHUK | 0.22492671 |
| 82 | LATS1 | 0.21776033 |
| 83 | MAPK11 | 0.21671638 |
| 84 | MAPK14 | 0.21579965 |
| 85 | IKBKB | 0.21116302 |
| 86 | KDR | 0.19428366 |
| 87 | SYK | 0.19051220 |
| 88 | SGK1 | 0.17652814 |
| 89 | MAPK10 | 0.17157405 |
| 90 | ARAF | 0.15508597 |
| 91 | MARK1 | 0.15505308 |
| 92 | TYRO3 | 0.15373932 |
| 93 | AKT1 | 0.14663927 |
| 94 | FLT3 | 0.13391441 |
| 95 | MET | 0.12331347 |
| 96 | MARK2 | 0.10966705 |
| 97 | PRKACA | 0.10796675 |
| 98 | PRKCQ | 0.09529136 |
| 99 | MINK1 | 0.09204571 |
| 100 | TIE1 | 0.08225163 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 8.61531022 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 6.44066611 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.33597369 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.68284072 |
| 5 | Allograft rejection_Homo sapiens_hsa05330 | 2.19516724 |
| 6 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 2.12743956 |
| 7 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 2.11649540 |
| 8 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.01995780 |
| 9 | Graft-versus-host disease_Homo sapiens_hsa05332 | 2.01830442 |
| 10 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.99826688 |
| 11 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.68121004 |
| 12 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.63372759 |
| 13 | Viral myocarditis_Homo sapiens_hsa05416 | 1.61844247 |
| 14 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.53855378 |
| 15 | Taste transduction_Homo sapiens_hsa04742 | 1.52047024 |
| 16 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.49732230 |
| 17 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.49265719 |
| 18 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.46527692 |
| 19 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.45882800 |
| 20 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.40868725 |
| 21 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.38033855 |
| 22 | RNA transport_Homo sapiens_hsa03013 | 1.31133737 |
| 23 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.30638580 |
| 24 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.15465403 |
| 25 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.12968310 |
| 26 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.12815844 |
| 27 | Endocytosis_Homo sapiens_hsa04144 | 1.12301786 |
| 28 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.06728405 |
| 29 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.05910457 |
| 30 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.98606778 |
| 31 | Salivary secretion_Homo sapiens_hsa04970 | 0.97579323 |
| 32 | Phototransduction_Homo sapiens_hsa04744 | 0.91564688 |
| 33 | Influenza A_Homo sapiens_hsa05164 | 0.83655403 |
| 34 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.83015728 |
| 35 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.80802749 |
| 36 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.80026163 |
| 37 | ABC transporters_Homo sapiens_hsa02010 | 0.79713319 |
| 38 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.76406064 |
| 39 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.75951100 |
| 40 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.73714046 |
| 41 | Morphine addiction_Homo sapiens_hsa05032 | 0.72403382 |
| 42 | Purine metabolism_Homo sapiens_hsa00230 | 0.71766486 |
| 43 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.71734753 |
| 44 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.71045368 |
| 45 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.70792067 |
| 46 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.68458741 |
| 47 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.66088882 |
| 48 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.64782962 |
| 49 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.64572753 |
| 50 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.64257352 |
| 51 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.64039400 |
| 52 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.60183294 |
| 53 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.56905121 |
| 54 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.55126098 |
| 55 | Retinol metabolism_Homo sapiens_hsa00830 | 0.54894502 |
| 56 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.53890864 |
| 57 | Circadian entrainment_Homo sapiens_hsa04713 | 0.52416015 |
| 58 | Nicotine addiction_Homo sapiens_hsa05033 | 0.50948390 |
| 59 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.48607164 |
| 60 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.46969654 |
| 61 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.44451865 |
| 62 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.41288746 |
| 63 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.41216501 |
| 64 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.41196893 |
| 65 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.38759840 |
| 66 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.37199414 |
| 67 | Insulin secretion_Homo sapiens_hsa04911 | 0.37039679 |
| 68 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.36895003 |
| 69 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.34725896 |
| 70 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.34637906 |
| 71 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.33844518 |
| 72 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.33820523 |
| 73 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.33634899 |
| 74 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.32895732 |
| 75 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.32264397 |
| 76 | Renin secretion_Homo sapiens_hsa04924 | 0.31802476 |
| 77 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.31508358 |
| 78 | Tight junction_Homo sapiens_hsa04530 | 0.31243657 |
| 79 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.30089892 |
| 80 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.29512603 |
| 81 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.28608807 |
| 82 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.28414448 |
| 83 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.27427379 |
| 84 | Huntingtons disease_Homo sapiens_hsa05016 | 0.26140290 |
| 85 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.26019537 |
| 86 | Bile secretion_Homo sapiens_hsa04976 | 0.25552970 |
| 87 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.24600946 |
| 88 | Basal transcription factors_Homo sapiens_hsa03022 | 0.23787444 |
| 89 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.23103339 |
| 90 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.23084690 |
| 91 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.23030252 |
| 92 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.21323834 |
| 93 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.18484265 |
| 94 | GABAergic synapse_Homo sapiens_hsa04727 | 0.18215150 |
| 95 | Metabolic pathways_Homo sapiens_hsa01100 | 0.17699741 |
| 96 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.17534571 |
| 97 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.17431036 |
| 98 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.15366108 |
| 99 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.14814910 |
| 100 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.13656768 |

