

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | chromosome condensation (GO:0030261) | 9.12262906 |
| 2 | sperm capacitation (GO:0048240) | 9.07539310 |
| 3 | DNA packaging (GO:0006323) | 8.86259778 |
| 4 | response to pheromone (GO:0019236) | 8.36297320 |
| 5 | plasma membrane fusion (GO:0045026) | 8.20038385 |
| 6 | protein targeting to Golgi (GO:0000042) | 8.17977919 |
| 7 | single strand break repair (GO:0000012) | 7.99292537 |
| 8 | establishment of protein localization to Golgi (GO:0072600) | 7.84843865 |
| 9 | spermatid development (GO:0007286) | 7.75174522 |
| 10 | microtubule depolymerization (GO:0007019) | 7.72923503 |
| 11 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 7.63331065 |
| 12 | spermatid nucleus differentiation (GO:0007289) | 7.50803108 |
| 13 | protein polyglutamylation (GO:0018095) | 7.22420810 |
| 14 | rRNA methylation (GO:0031167) | 7.20325516 |
| 15 | microtubule polymerization or depolymerization (GO:0031109) | 7.01849028 |
| 16 | sperm-egg recognition (GO:0035036) | 6.94327269 |
| 17 | centriole replication (GO:0007099) | 6.80046821 |
| 18 | multicellular organism reproduction (GO:0032504) | 6.55836773 |
| 19 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.48759666 |
| 20 | sexual reproduction (GO:0019953) | 6.35001079 |
| 21 | calcium ion-dependent exocytosis (GO:0017156) | 6.30664362 |
| 22 | reproduction (GO:0000003) | 6.27187343 |
| 23 | spermatogenesis (GO:0007283) | 6.24465352 |
| 24 | male gamete generation (GO:0048232) | 6.22342116 |
| 25 | binding of sperm to zona pellucida (GO:0007339) | 6.12310685 |
| 26 | axonemal dynein complex assembly (GO:0070286) | 6.03401699 |
| 27 | rRNA modification (GO:0000154) | 6.02773673 |
| 28 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.98850161 |
| 29 | centriole assembly (GO:0098534) | 5.85209303 |
| 30 | protein localization to Golgi apparatus (GO:0034067) | 5.82685466 |
| 31 | cell-cell recognition (GO:0009988) | 5.74115818 |
| 32 | gamete generation (GO:0007276) | 5.69601397 |
| 33 | regulation of centriole replication (GO:0046599) | 5.64666576 |
| 34 | microtubule severing (GO:0051013) | 5.58175081 |
| 35 | seminiferous tubule development (GO:0072520) | 5.55549410 |
| 36 | negative regulation of inclusion body assembly (GO:0090084) | 5.54484300 |
| 37 | RNA destabilization (GO:0050779) | 5.34306186 |
| 38 | regulation of cilium movement (GO:0003352) | 5.22222898 |
| 39 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.89921863 |
| 40 | single fertilization (GO:0007338) | 4.88448738 |
| 41 | * regulation of Rab GTPase activity (GO:0032313) | 4.84621094 |
| 42 | * positive regulation of Rab GTPase activity (GO:0032851) | 4.84621094 |
| 43 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.84160367 |
| 44 | motile cilium assembly (GO:0044458) | 4.82046547 |
| 45 | cell wall macromolecule metabolic process (GO:0044036) | 4.73275941 |
| 46 | cell wall macromolecule catabolic process (GO:0016998) | 4.68608311 |
| 47 | multicellular organismal reproductive process (GO:0048609) | 4.56233390 |
| 48 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 4.52210291 |
| 49 | germ cell development (GO:0007281) | 4.48807402 |
| 50 | multicellular organismal movement (GO:0050879) | 4.34958419 |
| 51 | musculoskeletal movement (GO:0050881) | 4.34958419 |
| 52 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.31088053 |
| 53 | cellular ketone body metabolic process (GO:0046950) | 4.30544703 |
| 54 | chromatin silencing (GO:0006342) | 4.27444133 |
| 55 | fertilization (GO:0009566) | 4.27344103 |
| 56 | nucleus organization (GO:0006997) | 4.24465206 |
| 57 | microtubule nucleation (GO:0007020) | 4.08562847 |
| 58 | epithelial cilium movement (GO:0003351) | 4.02212406 |
| 59 | glomerular visceral epithelial cell development (GO:0072015) | 3.92969266 |
| 60 | regulation of inclusion body assembly (GO:0090083) | 3.91392938 |
| 61 | ketone body metabolic process (GO:1902224) | 3.78135474 |
| 62 | glomerular epithelial cell development (GO:0072310) | 3.71526131 |
| 63 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.59167567 |
| 64 | regulation of microtubule-based movement (GO:0060632) | 3.57681637 |
| 65 | coenzyme catabolic process (GO:0009109) | 3.56313069 |
| 66 | organic cation transport (GO:0015695) | 3.55234641 |
| 67 | cilium movement (GO:0003341) | 3.52654899 |
| 68 | glycerol ether metabolic process (GO:0006662) | 3.49772730 |
| 69 | Golgi to endosome transport (GO:0006895) | 3.48957407 |
| 70 | regulation of somitogenesis (GO:0014807) | 3.38176848 |
| 71 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.34497181 |
| 72 | cerebral cortex neuron differentiation (GO:0021895) | 3.29266686 |
| 73 | histone H3-K9 demethylation (GO:0033169) | 3.26838919 |
| 74 | regulation of interleukin-13 production (GO:0032656) | 3.25265848 |
| 75 | ether metabolic process (GO:0018904) | 3.21797420 |
| 76 | regulation of T-helper 2 cell differentiation (GO:0045628) | 3.20843879 |
| 77 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.16747947 |
| 78 | homeostasis of number of cells within a tissue (GO:0048873) | 3.16265191 |
| 79 | cellular response to pH (GO:0071467) | 3.12061627 |
| 80 | response to acidic pH (GO:0010447) | 3.08757616 |
| 81 | intra-Golgi vesicle-mediated transport (GO:0006891) | 3.07751348 |
| 82 | nuclear pore complex assembly (GO:0051292) | 3.02398009 |
| 83 | multicellular organismal development (GO:0007275) | 2.99819708 |
| 84 | polyamine biosynthetic process (GO:0006596) | 2.99360762 |
| 85 | protein depolymerization (GO:0051261) | 2.98861313 |
| 86 | peptidyl-threonine dephosphorylation (GO:0035970) | 2.97579929 |
| 87 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 2.92349684 |
| 88 | receptor recycling (GO:0001881) | 2.90407298 |
| 89 | negative regulation of gene expression, epigenetic (GO:0045814) | 2.87203356 |
| 90 | vesicle transport along microtubule (GO:0047496) | 2.87087811 |
| 91 | mitotic G1 DNA damage checkpoint (GO:0031571) | 2.84009532 |
| 92 | protein-DNA complex disassembly (GO:0032986) | 2.83351107 |
| 93 | nucleosome disassembly (GO:0006337) | 2.83351107 |
| 94 | centrosome duplication (GO:0051298) | 2.81264481 |
| 95 | mitochondrial fission (GO:0000266) | 2.80199383 |
| 96 | mast cell activation involved in immune response (GO:0002279) | 2.77607073 |
| 97 | mast cell degranulation (GO:0043303) | 2.77607073 |
| 98 | sperm motility (GO:0030317) | 11.8337567 |
| 99 | acrosome reaction (GO:0007340) | 11.2281696 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.8490446 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 4.38808279 |
| 2 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.31465061 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.59347860 |
| 4 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.38541833 |
| 5 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.38541833 |
| 6 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.27593014 |
| 7 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.27593014 |
| 8 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.16230264 |
| 9 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.10725073 |
| 10 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.06817446 |
| 11 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.01862802 |
| 12 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.95022590 |
| 13 | ERA_21632823_ChIP-Seq_H3396_Human | 1.93884763 |
| 14 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.90013073 |
| 15 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.89948091 |
| 16 | FUS_26573619_Chip-Seq_HEK293_Human | 1.86779320 |
| 17 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.83648514 |
| 18 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.82099781 |
| 19 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.77023729 |
| 20 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.75253846 |
| 21 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.74125121 |
| 22 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.73915108 |
| 23 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.72808427 |
| 24 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.72203325 |
| 25 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.68452911 |
| 26 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.65613442 |
| 27 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.61371696 |
| 28 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.60365588 |
| 29 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.59520603 |
| 30 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.56020498 |
| 31 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.55460485 |
| 32 | * UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.53733947 |
| 33 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.51930504 |
| 34 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.50967691 |
| 35 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.48995691 |
| 36 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.46065096 |
| 37 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.45886837 |
| 38 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.45304874 |
| 39 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.44888240 |
| 40 | P68_20966046_ChIP-Seq_HELA_Human | 1.44798632 |
| 41 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.44446020 |
| 42 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.44241763 |
| 43 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.43688297 |
| 44 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.43201182 |
| 45 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.41285089 |
| 46 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.39611157 |
| 47 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.38988690 |
| 48 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.38745649 |
| 49 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.38707055 |
| 50 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.38407064 |
| 51 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.38087939 |
| 52 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.37795880 |
| 53 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.37041454 |
| 54 | AR_25329375_ChIP-Seq_VCAP_Human | 1.36240908 |
| 55 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.36048333 |
| 56 | P300_27268052_Chip-Seq_Bcells_Human | 1.34129165 |
| 57 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.33781868 |
| 58 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.33238643 |
| 59 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.32787432 |
| 60 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.30059291 |
| 61 | NFYB_21822215_ChIP-Seq_K562_Human | 1.29893675 |
| 62 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.26891204 |
| 63 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.25738115 |
| 64 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.25094846 |
| 65 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.24144487 |
| 66 | * CEBPB_22108803_ChIP-Seq_LS180_Human | 1.24088719 |
| 67 | P300_19829295_ChIP-Seq_ESCs_Human | 1.23812016 |
| 68 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.23777176 |
| 69 | TBL1_22424771_ChIP-Seq_293T_Human | 1.23422762 |
| 70 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.22294086 |
| 71 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.21561908 |
| 72 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.21493131 |
| 73 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.20990751 |
| 74 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.19692312 |
| 75 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.17866990 |
| 76 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.17698658 |
| 77 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.16908025 |
| 78 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.15452566 |
| 79 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.15424454 |
| 80 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.15250653 |
| 81 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.14255312 |
| 82 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.13785343 |
| 83 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.13112548 |
| 84 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.10792350 |
| 85 | NFYA_21822215_ChIP-Seq_K562_Human | 1.08303597 |
| 86 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.08101102 |
| 87 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.08057311 |
| 88 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.07756754 |
| 89 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.07704944 |
| 90 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.07588885 |
| 91 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 1.07546005 |
| 92 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.06793159 |
| 93 | * SA1_27219007_Chip-Seq_Bcells_Human | 1.05383841 |
| 94 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.04864979 |
| 95 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.03714356 |
| 96 | SPI1_20517297_ChIP-Seq_HL60_Human | 1.01188240 |
| 97 | NANOG_19829295_ChIP-Seq_ESCs_Human | 0.97439034 |
| 98 | SOX2_19829295_ChIP-Seq_ESCs_Human | 0.97439034 |
| 99 | GF1_26923725_Chip-Seq_HPCs_Mouse | 0.97262856 |
| 100 | KLF4_19829295_ChIP-Seq_ESCs_Human | 0.96794660 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005377_hearing/vestibular/ear_phenot | 5.93082905 |
| 2 | MP0003878_abnormal_ear_physiology | 5.93082905 |
| 3 | MP0005670_abnormal_white_adipose | 4.72029380 |
| 4 | MP0003698_abnormal_male_reproductive | 4.30546907 |
| 5 | MP0001348_abnormal_lacrimal_gland | 3.75881359 |
| 6 | MP0001929_abnormal_gametogenesis | 3.74681599 |
| 7 | MP0002161_abnormal_fertility/fecundity | 2.38877608 |
| 8 | MP0000678_abnormal_parathyroid_gland | 2.30366384 |
| 9 | MP0005451_abnormal_body_composition | 2.28501488 |
| 10 | MP0003646_muscle_fatigue | 2.15272281 |
| 11 | MP0005379_endocrine/exocrine_gland_phen | 2.05997722 |
| 12 | MP0002132_abnormal_respiratory_system | 2.03257513 |
| 13 | MP0003718_maternal_effect | 2.02432080 |
| 14 | MP0005410_abnormal_fertilization | 11.9300355 |
| 15 | MP0001485_abnormal_pinna_reflex | 1.76988541 |
| 16 | MP0005310_abnormal_salivary_gland | 1.70035176 |
| 17 | MP0002210_abnormal_sex_determination | 1.65620717 |
| 18 | MP0002822_catalepsy | 1.61728851 |
| 19 | MP0001486_abnormal_startle_reflex | 1.60274119 |
| 20 | MP0005423_abnormal_somatic_nervous | 1.51426820 |
| 21 | MP0003011_delayed_dark_adaptation | 1.47363348 |
| 22 | MP0002282_abnormal_trachea_morphology | 1.35182242 |
| 23 | MP0001145_abnormal_male_reproductive | 1.34077371 |
| 24 | MP0003879_abnormal_hair_cell | 1.33497014 |
| 25 | MP0004742_abnormal_vestibular_system | 1.33358666 |
| 26 | MP0002234_abnormal_pharynx_morphology | 1.30670862 |
| 27 | MP0002138_abnormal_hepatobiliary_system | 1.29726165 |
| 28 | MP0000653_abnormal_sex_gland | 1.28816507 |
| 29 | MP0002249_abnormal_larynx_morphology | 1.25922449 |
| 30 | MP0009053_abnormal_anal_canal | 1.19013978 |
| 31 | MP0004510_myositis | 1.17153242 |
| 32 | MP0005248_abnormal_Harderian_gland | 1.16840355 |
| 33 | MP0001963_abnormal_hearing_physiology | 1.11732047 |
| 34 | MP0001765_abnormal_ion_homeostasis | 1.10709689 |
| 35 | MP0004859_abnormal_synaptic_plasticity | 1.06415539 |
| 36 | MP0000534_abnormal_ureter_morphology | 1.03222815 |
| 37 | MP0008877_abnormal_DNA_methylation | 1.02806053 |
| 38 | MP0002127_abnormal_cardiovascular_syste | 1.00104288 |
| 39 | MP0002735_abnormal_chemical_nociception | 0.99461583 |
| 40 | MP0009115_abnormal_fat_cell | 0.97554481 |
| 41 | MP0005395_other_phenotype | 0.95172267 |
| 42 | MP0001968_abnormal_touch/_nociception | 0.94719246 |
| 43 | MP0000026_abnormal_inner_ear | 0.92764370 |
| 44 | MP0005666_abnormal_adipose_tissue | 0.88762522 |
| 45 | MP0005167_abnormal_blood-brain_barrier | 0.84982340 |
| 46 | MP0002229_neurodegeneration | 0.84545268 |
| 47 | MP0005551_abnormal_eye_electrophysiolog | 0.80496491 |
| 48 | MP0000955_abnormal_spinal_cord | 0.79384696 |
| 49 | MP0009697_abnormal_copulation | 0.73316020 |
| 50 | MP0002067_abnormal_sensory_capabilities | 0.72323001 |
| 51 | MP0008569_lethality_at_weaning | 0.72212421 |
| 52 | MP0005083_abnormal_biliary_tract | 0.69990996 |
| 53 | MP0005367_renal/urinary_system_phenotyp | 0.68302427 |
| 54 | MP0000516_abnormal_urinary_system | 0.68302427 |
| 55 | MP0005375_adipose_tissue_phenotype | 0.67944376 |
| 56 | MP0005253_abnormal_eye_physiology | 0.67159681 |
| 57 | MP0001905_abnormal_dopamine_level | 0.66946679 |
| 58 | MP0000681_abnormal_thyroid_gland | 0.63376897 |
| 59 | MP0004085_abnormal_heartbeat | 0.61833759 |
| 60 | MP0001666_abnormal_nutrient_absorption | 0.60029497 |
| 61 | MP0005535_abnormal_body_temperature | 0.59926115 |
| 62 | MP0002557_abnormal_social/conspecific_i | 0.59587222 |
| 63 | MP0005636_abnormal_mineral_homeostasis | 0.58533707 |
| 64 | MP0003137_abnormal_impulse_conducting | 0.55081992 |
| 65 | MP0002733_abnormal_thermal_nociception | 0.54977058 |
| 66 | MP0001501_abnormal_sleep_pattern | 0.52608623 |
| 67 | MP0001440_abnormal_grooming_behavior | 0.51629313 |
| 68 | MP0004233_abnormal_muscle_weight | 0.50166357 |
| 69 | MP0009764_decreased_sensitivity_to | 0.49783889 |
| 70 | MP0004484_altered_response_of | 0.49539041 |
| 71 | MP0002572_abnormal_emotion/affect_behav | 0.47893908 |
| 72 | MP0001984_abnormal_olfaction | 0.47289662 |
| 73 | MP0000049_abnormal_middle_ear | 0.47131696 |
| 74 | MP0000003_abnormal_adipose_tissue | 0.45565335 |
| 75 | MP0000230_abnormal_systemic_arterial | 0.44336653 |
| 76 | MP0009745_abnormal_behavioral_response | 0.43869782 |
| 77 | MP0002254_reproductive_system_inflammat | 0.42228408 |
| 78 | MP0003077_abnormal_cell_cycle | 0.41924466 |
| 79 | MP0000249_abnormal_blood_vessel | 0.41677098 |
| 80 | MP0008995_early_reproductive_senescence | 0.41603390 |
| 81 | MP0008961_abnormal_basal_metabolism | 0.41106069 |
| 82 | MP0010329_abnormal_lipoprotein_level | 0.41015379 |
| 83 | MP0004036_abnormal_muscle_relaxation | 0.40121687 |
| 84 | MP0000613_abnormal_salivary_gland | 0.39267707 |
| 85 | MP0001545_abnormal_hematopoietic_system | 0.38209542 |
| 86 | MP0005397_hematopoietic_system_phenotyp | 0.38209542 |
| 87 | MP0001879_abnormal_lymphatic_vessel | 0.38092251 |
| 88 | MP0002734_abnormal_mechanical_nocicepti | 0.38019435 |
| 89 | MP0001970_abnormal_pain_threshold | 0.37426476 |
| 90 | MP0002272_abnormal_nervous_system | 0.36599991 |
| 91 | MP0003699_abnormal_female_reproductive | 0.33698206 |
| 92 | MP0005623_abnormal_meninges_morphology | 0.32964010 |
| 93 | MP0005084_abnormal_gallbladder_morpholo | 0.32875932 |
| 94 | MP0003631_nervous_system_phenotype | 0.31632644 |
| 95 | MP0003936_abnormal_reproductive_system | 0.31274470 |
| 96 | MP0002928_abnormal_bile_duct | 0.30070306 |
| 97 | MP0005647_abnormal_sex_gland | 0.30017439 |
| 98 | MP0004782_abnormal_surfactant_physiolog | 0.29744984 |
| 99 | MP0000470_abnormal_stomach_morphology | 0.28448282 |
| 100 | MP0004084_abnormal_cardiac_muscle | 0.28314681 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 7.71979837 |
| 2 | Asymmetric septal hypertrophy (HP:0001670) | 6.28812961 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 5.99577392 |
| 4 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.99577392 |
| 5 | Tubulointerstitial nephritis (HP:0001970) | 5.57747002 |
| 6 | Chronic hepatic failure (HP:0100626) | 5.29152405 |
| 7 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.90812447 |
| 8 | Resting tremor (HP:0002322) | 4.73157922 |
| 9 | Attenuation of retinal blood vessels (HP:0007843) | 4.64048669 |
| 10 | Male infertility (HP:0003251) | 4.48569063 |
| 11 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.46014276 |
| 12 | Abnormal ciliary motility (HP:0012262) | 4.45203100 |
| 13 | Hyperkalemia (HP:0002153) | 4.42939391 |
| 14 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.41018821 |
| 15 | Cone-rod dystrophy (HP:0000548) | 4.30478224 |
| 16 | Nasal polyposis (HP:0100582) | 4.26917126 |
| 17 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.12017542 |
| 18 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.12017542 |
| 19 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 4.05828526 |
| 20 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.99644789 |
| 21 | Abnormality of macular pigmentation (HP:0008002) | 3.97396590 |
| 22 | Infertility (HP:0000789) | 3.95406789 |
| 23 | Bell-shaped thorax (HP:0001591) | 3.88072401 |
| 24 | Potter facies (HP:0002009) | 3.74333466 |
| 25 | Facial shape deformation (HP:0011334) | 3.74333466 |
| 26 | Impulsivity (HP:0100710) | 3.66775592 |
| 27 | Hypoplasia of the thymus (HP:0000778) | 3.63663914 |
| 28 | Abnormality of the nasal mucosa (HP:0000433) | 3.47324788 |
| 29 | Amelogenesis imperfecta (HP:0000705) | 3.43525124 |
| 30 | Hypoalphalipoproteinemia (HP:0003233) | 3.38168110 |
| 31 | Enlarged epiphyses (HP:0010580) | 3.32880309 |
| 32 | Hypoplastic ischia (HP:0003175) | 3.32510106 |
| 33 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.26300520 |
| 34 | Progressive sensorineural hearing impairment (HP:0000408) | 3.25341279 |
| 35 | Menstrual irregularities (HP:0000858) | 3.18624443 |
| 36 | Postural instability (HP:0002172) | 3.17640776 |
| 37 | Abnormality of dental color (HP:0011073) | 3.14464998 |
| 38 | Abnormal spermatogenesis (HP:0008669) | 3.01392221 |
| 39 | Abnormality of the ischium (HP:0003174) | 2.97555392 |
| 40 | Stage 5 chronic kidney disease (HP:0003774) | 2.94940179 |
| 41 | Progressive cerebellar ataxia (HP:0002073) | 2.94805524 |
| 42 | Portal hypertension (HP:0001409) | 2.89783037 |
| 43 | Abnormal urine output (HP:0012590) | 2.88561483 |
| 44 | Nephronophthisis (HP:0000090) | 2.86086750 |
| 45 | Truncal obesity (HP:0001956) | 2.83949175 |
| 46 | Tubulointerstitial abnormality (HP:0001969) | 2.81042112 |
| 47 | Abnormality of the costochondral junction (HP:0000919) | 2.79779760 |
| 48 | Renovascular hypertension (HP:0100817) | 2.76888841 |
| 49 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.76125855 |
| 50 | Abnormality of the hepatic vasculature (HP:0006707) | 2.64647237 |
| 51 | Abnormal drinking behavior (HP:0030082) | 2.62403015 |
| 52 | Polydipsia (HP:0001959) | 2.62403015 |
| 53 | Azoospermia (HP:0000027) | 2.58594895 |
| 54 | Rhinitis (HP:0012384) | 2.54450986 |
| 55 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.54041039 |
| 56 | Unilateral renal agenesis (HP:0000122) | 2.50854483 |
| 57 | Abnormality of potassium homeostasis (HP:0011042) | 2.49826860 |
| 58 | Abnormality of renal excretion (HP:0011036) | 2.48348240 |
| 59 | Generalized aminoaciduria (HP:0002909) | 2.47111980 |
| 60 | Abnormality of the renal medulla (HP:0100957) | 2.41014846 |
| 61 | Double outlet right ventricle (HP:0001719) | 2.39346657 |
| 62 | Congenital malformation of the right heart (HP:0011723) | 2.39346657 |
| 63 | Ventricular tachycardia (HP:0004756) | 2.38446919 |
| 64 | Polyuria (HP:0000103) | 2.34842425 |
| 65 | Progressive hearing impairment (HP:0001730) | 2.31251323 |
| 66 | Intellectual disability, moderate (HP:0002342) | 2.28979972 |
| 67 | Abnormality of the aortic arch (HP:0012303) | 2.28472354 |
| 68 | Spastic paraparesis (HP:0002313) | 2.27436005 |
| 69 | Chronic bronchitis (HP:0004469) | 2.21472563 |
| 70 | Hyperuricemia (HP:0002149) | 2.19717410 |
| 71 | Increased purine levels (HP:0004368) | 2.19717410 |
| 72 | Renal dysplasia (HP:0000110) | 2.19069348 |
| 73 | Recurrent pneumonia (HP:0006532) | 2.13551857 |
| 74 | Hypophosphatemic rickets (HP:0004912) | 2.13333973 |
| 75 | Focal segmental glomerulosclerosis (HP:0000097) | 2.11564091 |
| 76 | Widely patent fontanelles and sutures (HP:0004492) | 2.11243922 |
| 77 | Sensory axonal neuropathy (HP:0003390) | 2.10673493 |
| 78 | Epiphyseal dysplasia (HP:0002656) | 2.09338672 |
| 79 | Bronchiectasis (HP:0002110) | 2.06552631 |
| 80 | Subcapsular cataract (HP:0000523) | 1.99758532 |
| 81 | Abnormality of the parathyroid morphology (HP:0011766) | 1.97325611 |
| 82 | Hyponatremia (HP:0002902) | 1.96370201 |
| 83 | Osteomalacia (HP:0002749) | 1.92378216 |
| 84 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.91838746 |
| 85 | Recurrent corneal erosions (HP:0000495) | 1.90402302 |
| 86 | Tubular atrophy (HP:0000092) | 1.89113452 |
| 87 | Myokymia (HP:0002411) | 1.84751593 |
| 88 | Flattened epiphyses (HP:0003071) | 1.84144399 |
| 89 | Absent epiphyses (HP:0010577) | 1.83994558 |
| 90 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.83994558 |
| 91 | Bradycardia (HP:0001662) | 1.82584264 |
| 92 | Flat capital femoral epiphysis (HP:0003370) | 1.79355636 |
| 93 | Sandal gap (HP:0001852) | 1.78991224 |
| 94 | Decreased central vision (HP:0007663) | 1.78636030 |
| 95 | Abnormality of femoral epiphyses (HP:0006499) | 1.77650632 |
| 96 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 1.77650632 |
| 97 | Renal Fanconi syndrome (HP:0001994) | 1.73323948 |
| 98 | Photophobia (HP:0000613) | 1.72870877 |
| 99 | Abnormality of the femoral head (HP:0003368) | 1.72146441 |
| 100 | Glomerulosclerosis (HP:0000096) | 1.68331733 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 9.70550006 |
| 2 | TESK1 | 5.79758767 |
| 3 | DDR2 | 4.12959602 |
| 4 | INSRR | 3.99172658 |
| 5 | BRD4 | 3.80661917 |
| 6 | PLK2 | 3.60722891 |
| 7 | PNCK | 2.98093501 |
| 8 | STK38 | 2.67431555 |
| 9 | CAMK1G | 2.59032732 |
| 10 | PIK3CG | 2.16472998 |
| 11 | MAPK15 | 2.14708922 |
| 12 | MAP4K2 | 2.08064604 |
| 13 | STK38L | 2.04995904 |
| 14 | PRKD3 | 1.93499147 |
| 15 | PDPK1 | 1.59103358 |
| 16 | PDK1 | 1.58845240 |
| 17 | MST1R | 1.50140805 |
| 18 | NEK6 | 1.44298344 |
| 19 | WNK1 | 1.43393956 |
| 20 | CDK12 | 1.36367501 |
| 21 | TYRO3 | 1.30977975 |
| 22 | PTK2B | 1.23915064 |
| 23 | DYRK1B | 1.18256763 |
| 24 | CDK7 | 1.16869757 |
| 25 | CAMK1D | 1.15686907 |
| 26 | SIK2 | 0.89890700 |
| 27 | AKT3 | 0.89181163 |
| 28 | MAP3K11 | 0.88340242 |
| 29 | TESK2 | 0.86790652 |
| 30 | PRKG2 | 0.83317934 |
| 31 | KSR2 | 0.79086943 |
| 32 | LATS2 | 0.70859282 |
| 33 | PRKAA2 | 0.63272972 |
| 34 | RPS6KA2 | 0.62102602 |
| 35 | PRKG1 | 0.61095199 |
| 36 | MAP3K9 | 0.60709020 |
| 37 | CAMK1 | 0.56825825 |
| 38 | RPS6KA1 | 0.56700118 |
| 39 | RIPK4 | 0.56251007 |
| 40 | MAP2K2 | 0.53202872 |
| 41 | JAK3 | 0.52257982 |
| 42 | UHMK1 | 0.51169956 |
| 43 | BRAF | 0.48985521 |
| 44 | MAP3K4 | 0.47120223 |
| 45 | BRSK2 | 0.46084148 |
| 46 | MAP3K2 | 0.45613937 |
| 47 | TIE1 | 0.44440809 |
| 48 | CDK3 | 0.42809618 |
| 49 | ROCK1 | 0.41039825 |
| 50 | STK39 | 0.40791922 |
| 51 | BRSK1 | 0.40635416 |
| 52 | MAPK1 | 0.39313891 |
| 53 | CDK2 | 0.38930687 |
| 54 | GSK3B | 0.38047641 |
| 55 | SGK223 | 0.35397516 |
| 56 | SGK494 | 0.35397516 |
| 57 | CDK1 | 0.34250839 |
| 58 | TXK | 0.33195115 |
| 59 | MAP3K1 | 0.32745806 |
| 60 | LATS1 | 0.32116441 |
| 61 | WNK4 | 0.31576633 |
| 62 | RPS6KL1 | 0.31570543 |
| 63 | RPS6KC1 | 0.31570543 |
| 64 | CAMK4 | 0.31460286 |
| 65 | MARK1 | 0.29523827 |
| 66 | CDK4 | 0.29217524 |
| 67 | MAP3K8 | 0.29137070 |
| 68 | BLK | 0.28803019 |
| 69 | MAPK8 | 0.28475867 |
| 70 | SGK1 | 0.28105474 |
| 71 | RPS6KA6 | 0.27816199 |
| 72 | PRKCZ | 0.27376043 |
| 73 | BMPR1B | 0.27363660 |
| 74 | OXSR1 | 0.26733535 |
| 75 | MTOR | 0.26338337 |
| 76 | NTRK3 | 0.24667297 |
| 77 | PRKCB | 0.23222666 |
| 78 | PRKCG | 0.22745864 |
| 79 | IKBKB | 0.22527237 |
| 80 | MUSK | 0.22002971 |
| 81 | MARK2 | 0.20988857 |
| 82 | CHEK1 | 0.20918804 |
| 83 | MAPK14 | 0.19224318 |
| 84 | TNIK | 0.17541768 |
| 85 | MAPK11 | 0.16256799 |
| 86 | CHUK | 0.13989242 |
| 87 | MAPK10 | 0.13959583 |
| 88 | AKT1 | 0.13562006 |
| 89 | CDK19 | 0.12196010 |
| 90 | SGK2 | 0.10826378 |
| 91 | PKN1 | 0.08471381 |
| 92 | PRKAA1 | 0.08228964 |
| 93 | PRKACB | 0.08135922 |
| 94 | GRK6 | 0.06416321 |
| 95 | TNK2 | 0.05927765 |
| 96 | PRKACA | 0.05762731 |
| 97 | RIPK1 | 0.05013400 |
| 98 | KIT | 0.02755641 |
| 99 | MAPK9 | 0.02702263 |
| 100 | SGK3 | 0.02163337 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 6.81091022 |
| 2 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 6.26136959 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 4.07460045 |
| 4 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.11753266 |
| 5 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 2.08464818 |
| 6 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.00690448 |
| 7 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.93498762 |
| 8 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.81163849 |
| 9 | Taste transduction_Homo sapiens_hsa04742 | 1.74938137 |
| 10 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.74551717 |
| 11 | Allograft rejection_Homo sapiens_hsa05330 | 1.73328524 |
| 12 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.69306443 |
| 13 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.68418819 |
| 14 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.66524929 |
| 15 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.62538363 |
| 16 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.60987257 |
| 17 | RNA transport_Homo sapiens_hsa03013 | 1.60220601 |
| 18 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.51771209 |
| 19 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.50354657 |
| 20 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.42730324 |
| 21 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.36383638 |
| 22 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.21905047 |
| 23 | Viral myocarditis_Homo sapiens_hsa05416 | 1.20284016 |
| 24 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.19804111 |
| 25 | Endocytosis_Homo sapiens_hsa04144 | 1.18558045 |
| 26 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.17695353 |
| 27 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.14389025 |
| 28 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.13976746 |
| 29 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.13165361 |
| 30 | Phototransduction_Homo sapiens_hsa04744 | 1.01042358 |
| 31 | Influenza A_Homo sapiens_hsa05164 | 1.00684014 |
| 32 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.95527312 |
| 33 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.93843458 |
| 34 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.92539344 |
| 35 | Salivary secretion_Homo sapiens_hsa04970 | 0.92020678 |
| 36 | ABC transporters_Homo sapiens_hsa02010 | 0.91371283 |
| 37 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.90279390 |
| 38 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.89644044 |
| 39 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.89363738 |
| 40 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.86800553 |
| 41 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.86290400 |
| 42 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.86160478 |
| 43 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.85442230 |
| 44 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.82616279 |
| 45 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.82197192 |
| 46 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.79000464 |
| 47 | Morphine addiction_Homo sapiens_hsa05032 | 0.75923104 |
| 48 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.73140660 |
| 49 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.72635673 |
| 50 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.72084122 |
| 51 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.71914036 |
| 52 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.71105140 |
| 53 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.68588014 |
| 54 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.65364578 |
| 55 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.60407126 |
| 56 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.59706100 |
| 57 | Circadian entrainment_Homo sapiens_hsa04713 | 0.58256862 |
| 58 | Renin secretion_Homo sapiens_hsa04924 | 0.57787031 |
| 59 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.57694438 |
| 60 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.57605790 |
| 61 | Nicotine addiction_Homo sapiens_hsa05033 | 0.53765754 |
| 62 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.53030359 |
| 63 | Bile secretion_Homo sapiens_hsa04976 | 0.51665707 |
| 64 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.50684840 |
| 65 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.47837481 |
| 66 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.47458420 |
| 67 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.47090198 |
| 68 | Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650 | 0.45268017 |
| 69 | Retinol metabolism_Homo sapiens_hsa00830 | 0.44389888 |
| 70 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.43565568 |
| 71 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.43399042 |
| 72 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.43039962 |
| 73 | Tight junction_Homo sapiens_hsa04530 | 0.39504570 |
| 74 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.38466576 |
| 75 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.37222379 |
| 76 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.36871298 |
| 77 | Insulin secretion_Homo sapiens_hsa04911 | 0.36648149 |
| 78 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.36467787 |
| 79 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.35629778 |
| 80 | Long-term potentiation_Homo sapiens_hsa04720 | 0.35254079 |
| 81 | Basal transcription factors_Homo sapiens_hsa03022 | 0.34245179 |
| 82 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.34115385 |
| 83 | Purine metabolism_Homo sapiens_hsa00230 | 0.34010959 |
| 84 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.34005237 |
| 85 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.33327576 |
| 86 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.32278358 |
| 87 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.31329439 |
| 88 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.30695110 |
| 89 | T cell receptor signaling pathway_Homo sapiens_hsa04660 | 0.29395968 |
| 90 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.29372107 |
| 91 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.28265058 |
| 92 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.24481431 |
| 93 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.24007202 |
| 94 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.22680127 |
| 95 | Chemokine signaling pathway_Homo sapiens_hsa04062 | 0.22672414 |
| 96 | Legionellosis_Homo sapiens_hsa05134 | 0.22604608 |
| 97 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.22392387 |
| 98 | Huntingtons disease_Homo sapiens_hsa05016 | 0.21816108 |
| 99 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 0.21376860 |
| 100 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.21153904 |

