

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | chromosome condensation (GO:0030261) | 9.28435025 |
| 2 | DNA packaging (GO:0006323) | 8.87114773 |
| 3 | sperm capacitation (GO:0048240) | 8.69521673 |
| 4 | microtubule depolymerization (GO:0007019) | 8.50327496 |
| 5 | plasma membrane fusion (GO:0045026) | 8.49798540 |
| 6 | protein targeting to Golgi (GO:0000042) | 8.43875663 |
| 7 | establishment of protein localization to Golgi (GO:0072600) | 8.10247413 |
| 8 | spermatid development (GO:0007286) | 7.99844205 |
| 9 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 7.88095399 |
| 10 | protein polyglutamylation (GO:0018095) | 7.62673588 |
| 11 | single strand break repair (GO:0000012) | 7.56062155 |
| 12 | microtubule polymerization or depolymerization (GO:0031109) | 7.51793844 |
| 13 | rRNA methylation (GO:0031167) | 7.38295112 |
| 14 | sperm-egg recognition (GO:0035036) | 7.33977084 |
| 15 | response to pheromone (GO:0019236) | 7.30722704 |
| 16 | spermatid nucleus differentiation (GO:0007289) | 7.30055940 |
| 17 | multicellular organism reproduction (GO:0032504) | 6.96112963 |
| 18 | binding of sperm to zona pellucida (GO:0007339) | 6.71597909 |
| 19 | centriole replication (GO:0007099) | 6.60105040 |
| 20 | reproduction (GO:0000003) | 6.47879196 |
| 21 | calcium ion-dependent exocytosis (GO:0017156) | 6.47795550 |
| 22 | * spermatogenesis (GO:0007283) | 6.33544025 |
| 23 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.32921122 |
| 24 | * male gamete generation (GO:0048232) | 6.31409287 |
| 25 | rRNA modification (GO:0000154) | 6.20661076 |
| 26 | axonemal dynein complex assembly (GO:0070286) | 6.17383870 |
| 27 | protein localization to Golgi apparatus (GO:0034067) | 6.07715154 |
| 28 | sexual reproduction (GO:0019953) | 6.06525212 |
| 29 | cell-cell recognition (GO:0009988) | 6.04560441 |
| 30 | negative regulation of inclusion body assembly (GO:0090084) | 5.97703714 |
| 31 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.84220083 |
| 32 | centriole assembly (GO:0098534) | 5.83630125 |
| 33 | * gamete generation (GO:0007276) | 5.79888308 |
| 34 | microtubule severing (GO:0051013) | 5.69511136 |
| 35 | regulation of centriole replication (GO:0046599) | 5.65891511 |
| 36 | seminiferous tubule development (GO:0072520) | 5.63028849 |
| 37 | single fertilization (GO:0007338) | 5.32814757 |
| 38 | motile cilium assembly (GO:0044458) | 5.10767028 |
| 39 | regulation of cilium movement (GO:0003352) | 5.06217786 |
| 40 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.02234922 |
| 41 | RNA destabilization (GO:0050779) | 5.01298411 |
| 42 | regulation of Rab GTPase activity (GO:0032313) | 4.94542456 |
| 43 | positive regulation of Rab GTPase activity (GO:0032851) | 4.94542456 |
| 44 | glomerular visceral epithelial cell development (GO:0072015) | 4.81842425 |
| 45 | * multicellular organismal reproductive process (GO:0048609) | 4.63481199 |
| 46 | germ cell development (GO:0007281) | 4.61096118 |
| 47 | fertilization (GO:0009566) | 4.60914275 |
| 48 | cellular ketone body metabolic process (GO:0046950) | 4.57520204 |
| 49 | glomerular epithelial cell development (GO:0072310) | 4.51327231 |
| 50 | cell wall macromolecule catabolic process (GO:0016998) | 4.42213188 |
| 51 | epithelial cilium movement (GO:0003351) | 4.41227047 |
| 52 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.38194072 |
| 53 | nucleus organization (GO:0006997) | 4.24925656 |
| 54 | microtubule nucleation (GO:0007020) | 4.24258293 |
| 55 | regulation of inclusion body assembly (GO:0090083) | 4.24173159 |
| 56 | cell wall macromolecule metabolic process (GO:0044036) | 4.23532635 |
| 57 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.18178383 |
| 58 | multicellular organismal movement (GO:0050879) | 4.16357934 |
| 59 | musculoskeletal movement (GO:0050881) | 4.16357934 |
| 60 | ketone body metabolic process (GO:1902224) | 4.08584756 |
| 61 | chromatin silencing (GO:0006342) | 4.08284432 |
| 62 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 3.91618521 |
| 63 | cilium movement (GO:0003341) | 3.87054683 |
| 64 | glycerol ether metabolic process (GO:0006662) | 3.83657857 |
| 65 | nuclear pore complex assembly (GO:0051292) | 3.71653793 |
| 66 | ether metabolic process (GO:0018904) | 3.53584387 |
| 67 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.49405872 |
| 68 | organic cation transport (GO:0015695) | 3.46724940 |
| 69 | coenzyme catabolic process (GO:0009109) | 3.29932071 |
| 70 | protein depolymerization (GO:0051261) | 3.26813217 |
| 71 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.26080860 |
| 72 | intra-Golgi vesicle-mediated transport (GO:0006891) | 3.21424393 |
| 73 | regulation of microtubule-based movement (GO:0060632) | 3.19397794 |
| 74 | protein-DNA complex disassembly (GO:0032986) | 3.16588779 |
| 75 | nucleosome disassembly (GO:0006337) | 3.16588779 |
| 76 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.13461815 |
| 77 | polyamine biosynthetic process (GO:0006596) | 3.11953540 |
| 78 | cellular response to pH (GO:0071467) | 3.11283850 |
| 79 | histone H3-K9 demethylation (GO:0033169) | 3.10226915 |
| 80 | response to acidic pH (GO:0010447) | 3.10082283 |
| 81 | ventricular system development (GO:0021591) | 3.03243480 |
| 82 | multicellular organismal development (GO:0007275) | 3.02691162 |
| 83 | Golgi to endosome transport (GO:0006895) | 2.99775510 |
| 84 | regulation of interleukin-13 production (GO:0032656) | 2.98485954 |
| 85 | receptor recycling (GO:0001881) | 2.98261233 |
| 86 | homeostasis of number of cells within a tissue (GO:0048873) | 2.96880173 |
| 87 | cerebral cortex neuron differentiation (GO:0021895) | 2.92693925 |
| 88 | cell recognition (GO:0008037) | 2.92186497 |
| 89 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 2.89939896 |
| 90 | DNA conformation change (GO:0071103) | 2.88784632 |
| 91 | centrosome duplication (GO:0051298) | 2.82813026 |
| 92 | mitotic G1 DNA damage checkpoint (GO:0031571) | 2.81958821 |
| 93 | pore complex assembly (GO:0046931) | 2.80791005 |
| 94 | regulation of ARF GTPase activity (GO:0032312) | 2.80263173 |
| 95 | positive regulation of guanylate cyclase activity (GO:0031284) | 2.79530546 |
| 96 | regulation of T-helper 2 cell differentiation (GO:0045628) | 2.75931389 |
| 97 | nuclear pore organization (GO:0006999) | 2.74921661 |
| 98 | sperm motility (GO:0030317) | 12.0951534 |
| 99 | acrosome reaction (GO:0007340) | 11.5766901 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 11.2149949 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 5.09932079 |
| 2 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.02615087 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.59976599 |
| 4 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.80988776 |
| 5 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.53856171 |
| 6 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.53856171 |
| 7 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.31966477 |
| 8 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.31966477 |
| 9 | FUS_26573619_Chip-Seq_HEK293_Human | 2.22106903 |
| 10 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.17275653 |
| 11 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.14501397 |
| 12 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.09888623 |
| 13 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.06898670 |
| 14 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.05822283 |
| 15 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.92151218 |
| 16 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.91520472 |
| 17 | ERA_21632823_ChIP-Seq_H3396_Human | 1.83955334 |
| 18 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.80739253 |
| 19 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.74099720 |
| 20 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.72968897 |
| 21 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.72285431 |
| 22 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.69290269 |
| 23 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.65806962 |
| 24 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.65009051 |
| 25 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.64903162 |
| 26 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.63550663 |
| 27 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.63384738 |
| 28 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.62913853 |
| 29 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.61620329 |
| 30 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.57550837 |
| 31 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.55512869 |
| 32 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.54248179 |
| 33 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.51266351 |
| 34 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.49896310 |
| 35 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.49816656 |
| 36 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.48998785 |
| 37 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.48211154 |
| 38 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.47674391 |
| 39 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.45048095 |
| 40 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.44605381 |
| 41 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.42576083 |
| 42 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.42470048 |
| 43 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.42465672 |
| 44 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.41887135 |
| 45 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.41381647 |
| 46 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.40701715 |
| 47 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.40394798 |
| 48 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.39461213 |
| 49 | AR_25329375_ChIP-Seq_VCAP_Human | 1.38533033 |
| 50 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.37683628 |
| 51 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.37129845 |
| 52 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.36245208 |
| 53 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.35726285 |
| 54 | P68_20966046_ChIP-Seq_HELA_Human | 1.35030838 |
| 55 | NFYB_21822215_ChIP-Seq_K562_Human | 1.34313108 |
| 56 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.32821730 |
| 57 | P300_19829295_ChIP-Seq_ESCs_Human | 1.32154541 |
| 58 | TBL1_22424771_ChIP-Seq_293T_Human | 1.32080960 |
| 59 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.32026111 |
| 60 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.30269370 |
| 61 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.29832121 |
| 62 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.27990658 |
| 63 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.26349221 |
| 64 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.25757242 |
| 65 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.24787373 |
| 66 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.20660231 |
| 67 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.20547104 |
| 68 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.20248709 |
| 69 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.19615366 |
| 70 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.18973332 |
| 71 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.18687547 |
| 72 | P300_27268052_Chip-Seq_Bcells_Human | 1.17757111 |
| 73 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.17457009 |
| 74 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.16708139 |
| 75 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.16690490 |
| 76 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.15021862 |
| 77 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.13364264 |
| 78 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.12807734 |
| 79 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.12514729 |
| 80 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.11941062 |
| 81 | NFYA_21822215_ChIP-Seq_K562_Human | 1.11832987 |
| 82 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.11680783 |
| 83 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.11560031 |
| 84 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.10295741 |
| 85 | STAT3_23295773_ChIP-Seq_U87_Human | 1.08496058 |
| 86 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.07818368 |
| 87 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.07688957 |
| 88 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.07316393 |
| 89 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.05948031 |
| 90 | SA1_27219007_Chip-Seq_Bcells_Human | 1.04555650 |
| 91 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.03980327 |
| 92 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.02909806 |
| 93 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.01870789 |
| 94 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.01218661 |
| 95 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.01218661 |
| 96 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.01080199 |
| 97 | KLF5_25053715_ChIP-Seq_YYC3_Human | 1.00163977 |
| 98 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.00091468 |
| 99 | SMRT_27268052_Chip-Seq_Bcells_Human | 0.99537518 |
| 100 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.99085348 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005377_hearing/vestibular/ear_phenot | 5.96275906 |
| 2 | MP0003878_abnormal_ear_physiology | 5.96275906 |
| 3 | MP0005670_abnormal_white_adipose | 4.61965071 |
| 4 | MP0003698_abnormal_male_reproductive | 4.39074374 |
| 5 | MP0001929_abnormal_gametogenesis | 3.85453350 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.52859602 |
| 7 | MP0002161_abnormal_fertility/fecundity | 2.42420922 |
| 8 | MP0003646_muscle_fatigue | 2.28243216 |
| 9 | MP0003718_maternal_effect | 2.21787776 |
| 10 | MP0000678_abnormal_parathyroid_gland | 2.00294345 |
| 11 | MP0005410_abnormal_fertilization | 12.0025178 |
| 12 | MP0001485_abnormal_pinna_reflex | 1.98406848 |
| 13 | MP0005451_abnormal_body_composition | 1.96231318 |
| 14 | MP0003011_delayed_dark_adaptation | 1.87567046 |
| 15 | MP0005379_endocrine/exocrine_gland_phen | 1.79974193 |
| 16 | MP0002210_abnormal_sex_determination | 1.76075791 |
| 17 | MP0002132_abnormal_respiratory_system | 1.71074861 |
| 18 | MP0005310_abnormal_salivary_gland | 1.70423251 |
| 19 | MP0003879_abnormal_hair_cell | 1.67671113 |
| 20 | MP0001486_abnormal_startle_reflex | 1.67079081 |
| 21 | MP0005423_abnormal_somatic_nervous | 1.53144437 |
| 22 | MP0004742_abnormal_vestibular_system | 1.48902097 |
| 23 | MP0001145_abnormal_male_reproductive | 1.42280047 |
| 24 | MP0002282_abnormal_trachea_morphology | 1.34611620 |
| 25 | MP0000653_abnormal_sex_gland | 1.33428688 |
| 26 | MP0001963_abnormal_hearing_physiology | 1.22981613 |
| 27 | MP0004859_abnormal_synaptic_plasticity | 1.22567966 |
| 28 | MP0004510_myositis | 1.22208877 |
| 29 | MP0002249_abnormal_larynx_morphology | 1.22113138 |
| 30 | MP0001765_abnormal_ion_homeostasis | 1.19241734 |
| 31 | MP0002138_abnormal_hepatobiliary_system | 1.15181029 |
| 32 | MP0009053_abnormal_anal_canal | 1.12734674 |
| 33 | MP0002234_abnormal_pharynx_morphology | 1.12201890 |
| 34 | MP0000026_abnormal_inner_ear | 1.01534459 |
| 35 | MP0005395_other_phenotype | 0.99391412 |
| 36 | MP0009115_abnormal_fat_cell | 0.98173589 |
| 37 | MP0000534_abnormal_ureter_morphology | 0.98155797 |
| 38 | MP0002735_abnormal_chemical_nociception | 0.96244494 |
| 39 | MP0001968_abnormal_touch/_nociception | 0.96108327 |
| 40 | MP0005248_abnormal_Harderian_gland | 0.94546308 |
| 41 | MP0002822_catalepsy | 0.94262202 |
| 42 | MP0005551_abnormal_eye_electrophysiolog | 0.93228051 |
| 43 | MP0001984_abnormal_olfaction | 0.92424698 |
| 44 | MP0002127_abnormal_cardiovascular_syste | 0.91859066 |
| 45 | MP0002229_neurodegeneration | 0.87340704 |
| 46 | MP0005253_abnormal_eye_physiology | 0.86594437 |
| 47 | MP0008877_abnormal_DNA_methylation | 0.84540353 |
| 48 | MP0005666_abnormal_adipose_tissue | 0.81054485 |
| 49 | MP0009697_abnormal_copulation | 0.79650256 |
| 50 | MP0005083_abnormal_biliary_tract | 0.79355863 |
| 51 | MP0000955_abnormal_spinal_cord | 0.78362756 |
| 52 | MP0002067_abnormal_sensory_capabilities | 0.75467145 |
| 53 | MP0005167_abnormal_blood-brain_barrier | 0.75260467 |
| 54 | MP0004233_abnormal_muscle_weight | 0.67940707 |
| 55 | MP0008569_lethality_at_weaning | 0.67248227 |
| 56 | MP0008995_early_reproductive_senescence | 0.67077592 |
| 57 | MP0004085_abnormal_heartbeat | 0.66809159 |
| 58 | MP0005408_hypopigmentation | 0.64059861 |
| 59 | MP0002733_abnormal_thermal_nociception | 0.62195728 |
| 60 | MP0002557_abnormal_social/conspecific_i | 0.62188768 |
| 61 | MP0005636_abnormal_mineral_homeostasis | 0.60808003 |
| 62 | MP0005375_adipose_tissue_phenotype | 0.60086763 |
| 63 | MP0000681_abnormal_thyroid_gland | 0.59061228 |
| 64 | MP0001666_abnormal_nutrient_absorption | 0.58479848 |
| 65 | MP0002572_abnormal_emotion/affect_behav | 0.57038856 |
| 66 | MP0001905_abnormal_dopamine_level | 0.56462373 |
| 67 | MP0000049_abnormal_middle_ear | 0.53485216 |
| 68 | MP0000230_abnormal_systemic_arterial | 0.53197616 |
| 69 | MP0003077_abnormal_cell_cycle | 0.52819765 |
| 70 | MP0004036_abnormal_muscle_relaxation | 0.52355259 |
| 71 | MP0003137_abnormal_impulse_conducting | 0.51109393 |
| 72 | MP0002272_abnormal_nervous_system | 0.46896946 |
| 73 | MP0005367_renal/urinary_system_phenotyp | 0.45867019 |
| 74 | MP0000516_abnormal_urinary_system | 0.45867019 |
| 75 | MP0001440_abnormal_grooming_behavior | 0.45528844 |
| 76 | MP0004084_abnormal_cardiac_muscle | 0.44669598 |
| 77 | MP0000003_abnormal_adipose_tissue | 0.43883832 |
| 78 | MP0010329_abnormal_lipoprotein_level | 0.42692798 |
| 79 | MP0002928_abnormal_bile_duct | 0.42182291 |
| 80 | MP0005535_abnormal_body_temperature | 0.41940849 |
| 81 | MP0001501_abnormal_sleep_pattern | 0.41672131 |
| 82 | MP0004484_altered_response_of | 0.41111103 |
| 83 | MP0001970_abnormal_pain_threshold | 0.40296394 |
| 84 | MP0008961_abnormal_basal_metabolism | 0.40181540 |
| 85 | MP0005332_abnormal_amino_acid | 0.39880240 |
| 86 | MP0005391_vision/eye_phenotype | 0.38959142 |
| 87 | MP0009745_abnormal_behavioral_response | 0.38139298 |
| 88 | MP0002734_abnormal_mechanical_nocicepti | 0.37399956 |
| 89 | MP0001879_abnormal_lymphatic_vessel | 0.37240561 |
| 90 | MP0001545_abnormal_hematopoietic_system | 0.36544842 |
| 91 | MP0005397_hematopoietic_system_phenotyp | 0.36544842 |
| 92 | MP0005623_abnormal_meninges_morphology | 0.36298110 |
| 93 | MP0003631_nervous_system_phenotype | 0.36236254 |
| 94 | MP0001270_distended_abdomen | 0.35896666 |
| 95 | MP0004782_abnormal_surfactant_physiolog | 0.35319148 |
| 96 | MP0005595_abnormal_vascular_smooth | 0.34608757 |
| 97 | MP0002653_abnormal_ependyma_morphology | 0.31871004 |
| 98 | MP0005084_abnormal_gallbladder_morpholo | 0.31505413 |
| 99 | MP0000470_abnormal_stomach_morphology | 0.31401127 |
| 100 | MP0003699_abnormal_female_reproductive | 0.31055206 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 7.56247508 |
| 2 | Tubulointerstitial nephritis (HP:0001970) | 6.29927323 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.16801534 |
| 4 | Absent/shortened dynein arms (HP:0200106) | 6.16801534 |
| 5 | Asymmetric septal hypertrophy (HP:0001670) | 6.00237807 |
| 6 | Chronic hepatic failure (HP:0100626) | 5.95567933 |
| 7 | Resting tremor (HP:0002322) | 4.72931135 |
| 8 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.60257622 |
| 9 | Attenuation of retinal blood vessels (HP:0007843) | 4.60089608 |
| 10 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.58698998 |
| 11 | Abnormal ciliary motility (HP:0012262) | 4.58507264 |
| 12 | Cone-rod dystrophy (HP:0000548) | 4.55854091 |
| 13 | Male infertility (HP:0003251) | 4.55606791 |
| 14 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.47508647 |
| 15 | Hyperkalemia (HP:0002153) | 4.47432840 |
| 16 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.42163507 |
| 17 | Nasal polyposis (HP:0100582) | 4.39557889 |
| 18 | Abnormality of macular pigmentation (HP:0008002) | 4.20191465 |
| 19 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.17408793 |
| 20 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.17408793 |
| 21 | Infertility (HP:0000789) | 4.06798734 |
| 22 | Hypoalphalipoproteinemia (HP:0003233) | 3.82578342 |
| 23 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.77714430 |
| 24 | Progressive sensorineural hearing impairment (HP:0000408) | 3.76501064 |
| 25 | Bell-shaped thorax (HP:0001591) | 3.65718390 |
| 26 | Hypoplasia of the thymus (HP:0000778) | 3.60429566 |
| 27 | Abnormality of the nasal mucosa (HP:0000433) | 3.59043105 |
| 28 | Menstrual irregularities (HP:0000858) | 3.54669523 |
| 29 | Enlarged epiphyses (HP:0010580) | 3.47339062 |
| 30 | Impulsivity (HP:0100710) | 3.43076325 |
| 31 | Potter facies (HP:0002009) | 3.38954614 |
| 32 | Facial shape deformation (HP:0011334) | 3.38954614 |
| 33 | Amelogenesis imperfecta (HP:0000705) | 3.34817243 |
| 34 | Abnormality of dental color (HP:0011073) | 3.29381730 |
| 35 | Hypoplastic ischia (HP:0003175) | 3.25702744 |
| 36 | Renovascular hypertension (HP:0100817) | 3.24615055 |
| 37 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.21273796 |
| 38 | Postural instability (HP:0002172) | 3.15749628 |
| 39 | Stage 5 chronic kidney disease (HP:0003774) | 3.05834835 |
| 40 | Truncal obesity (HP:0001956) | 3.05426449 |
| 41 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.96833873 |
| 42 | Progressive cerebellar ataxia (HP:0002073) | 2.95008590 |
| 43 | Portal hypertension (HP:0001409) | 2.94123718 |
| 44 | Abnormality of the ischium (HP:0003174) | 2.92163343 |
| 45 | Abnormal spermatogenesis (HP:0008669) | 2.91943088 |
| 46 | Tubulointerstitial abnormality (HP:0001969) | 2.87249017 |
| 47 | Nephronophthisis (HP:0000090) | 2.71791115 |
| 48 | Abnormality of the hepatic vasculature (HP:0006707) | 2.70463737 |
| 49 | Rhinitis (HP:0012384) | 2.68580103 |
| 50 | Abnormality of the costochondral junction (HP:0000919) | 2.66937856 |
| 51 | Abnormal urine output (HP:0012590) | 2.51873982 |
| 52 | Focal segmental glomerulosclerosis (HP:0000097) | 2.51483059 |
| 53 | Azoospermia (HP:0000027) | 2.50857229 |
| 54 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.48068319 |
| 55 | Abnormality of potassium homeostasis (HP:0011042) | 2.44271756 |
| 56 | Generalized aminoaciduria (HP:0002909) | 2.43968394 |
| 57 | Progressive hearing impairment (HP:0001730) | 2.43696174 |
| 58 | Hyperuricemia (HP:0002149) | 2.41239436 |
| 59 | Increased purine levels (HP:0004368) | 2.41239436 |
| 60 | Chronic bronchitis (HP:0004469) | 2.38394119 |
| 61 | Intellectual disability, moderate (HP:0002342) | 2.36458806 |
| 62 | Abnormality of the renal medulla (HP:0100957) | 2.33001503 |
| 63 | Abnormal drinking behavior (HP:0030082) | 2.31418402 |
| 64 | Polydipsia (HP:0001959) | 2.31418402 |
| 65 | Subcapsular cataract (HP:0000523) | 2.30896970 |
| 66 | Abnormality of the aortic arch (HP:0012303) | 2.28112395 |
| 67 | Ventricular tachycardia (HP:0004756) | 2.24790371 |
| 68 | Unilateral renal agenesis (HP:0000122) | 2.19797666 |
| 69 | Abnormality of renal excretion (HP:0011036) | 2.17722104 |
| 70 | Hypophosphatemic rickets (HP:0004912) | 2.17384815 |
| 71 | Osteomalacia (HP:0002749) | 2.15847494 |
| 72 | Flattened epiphyses (HP:0003071) | 2.10977471 |
| 73 | Renal dysplasia (HP:0000110) | 2.08306331 |
| 74 | Congenital malformation of the right heart (HP:0011723) | 2.05588489 |
| 75 | Double outlet right ventricle (HP:0001719) | 2.05588489 |
| 76 | Congenital sensorineural hearing impairment (HP:0008527) | 2.04549335 |
| 77 | Widely patent fontanelles and sutures (HP:0004492) | 2.02316562 |
| 78 | Polyuria (HP:0000103) | 2.01669738 |
| 79 | Recurrent pneumonia (HP:0006532) | 2.00213932 |
| 80 | Glomerulosclerosis (HP:0000096) | 2.00023622 |
| 81 | Myokymia (HP:0002411) | 1.99639409 |
| 82 | Bronchiectasis (HP:0002110) | 1.98305140 |
| 83 | Hypolipoproteinemia (HP:0010981) | 1.91103833 |
| 84 | Bradycardia (HP:0001662) | 1.87438907 |
| 85 | Hypoalbuminemia (HP:0003073) | 1.84592872 |
| 86 | Abnormal albumin level (HP:0012116) | 1.84592872 |
| 87 | Decreased central vision (HP:0007663) | 1.84273793 |
| 88 | Hyponatremia (HP:0002902) | 1.84200492 |
| 89 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.83567693 |
| 90 | Upper limb muscle weakness (HP:0003484) | 1.82020146 |
| 91 | Sandal gap (HP:0001852) | 1.79841348 |
| 92 | Optic nerve hypoplasia (HP:0000609) | 1.79607314 |
| 93 | Epiphyseal dysplasia (HP:0002656) | 1.79363566 |
| 94 | Insulin resistance (HP:0000855) | 1.76884423 |
| 95 | Photophobia (HP:0000613) | 1.73565290 |
| 96 | Renal Fanconi syndrome (HP:0001994) | 1.72896252 |
| 97 | Abnormality of the parathyroid morphology (HP:0011766) | 1.71687325 |
| 98 | Abnormality of femoral epiphyses (HP:0006499) | 1.71449818 |
| 99 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 1.71449818 |
| 100 | Horizontal nystagmus (HP:0000666) | 1.67557054 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 9.60067028 |
| 2 | INSRR | 4.72728744 |
| 3 | TESK1 | 4.72546747 |
| 4 | BRD4 | 4.18823662 |
| 5 | DDR2 | 3.88095935 |
| 6 | PLK2 | 3.67580329 |
| 7 | PNCK | 3.12411516 |
| 8 | MAP4K2 | 2.96602502 |
| 9 | STK38 | 2.60453539 |
| 10 | CAMK1G | 2.46532601 |
| 11 | PIK3CG | 2.41961194 |
| 12 | PRKD3 | 2.13354066 |
| 13 | STK38L | 2.07771251 |
| 14 | MST1R | 1.90191736 |
| 15 | MAPK15 | 1.80688079 |
| 16 | WNK1 | 1.57065272 |
| 17 | TYRO3 | 1.55657001 |
| 18 | CDK12 | 1.55498174 |
| 19 | PDK1 | 1.50179886 |
| 20 | PDPK1 | 1.48972079 |
| 21 | NEK6 | 1.44409056 |
| 22 | PTK2B | 1.20485774 |
| 23 | DYRK1B | 1.16432203 |
| 24 | CDK7 | 1.08038463 |
| 25 | CAMK1D | 0.93428851 |
| 26 | AKT3 | 0.87073343 |
| 27 | KSR2 | 0.83532409 |
| 28 | MAP3K9 | 0.81875177 |
| 29 | PRKG2 | 0.77843750 |
| 30 | TIE1 | 0.73927285 |
| 31 | MAP3K11 | 0.71368121 |
| 32 | SIK2 | 0.70870842 |
| 33 | BRAF | 0.69325233 |
| 34 | WNK4 | 0.66254562 |
| 35 | LATS2 | 0.62546887 |
| 36 | PRKG1 | 0.57302044 |
| 37 | RPS6KA2 | 0.56181160 |
| 38 | PRKAA2 | 0.55450589 |
| 39 | CAMK1 | 0.55106711 |
| 40 | CDK3 | 0.54087895 |
| 41 | MAP2K2 | 0.53090732 |
| 42 | RPS6KA1 | 0.47564312 |
| 43 | PINK1 | 0.44758132 |
| 44 | LATS1 | 0.43065547 |
| 45 | UHMK1 | 0.42593562 |
| 46 | MAP3K2 | 0.41292628 |
| 47 | ROCK1 | 0.40355969 |
| 48 | MARK1 | 0.40186270 |
| 49 | SGK223 | 0.40183416 |
| 50 | SGK494 | 0.40183416 |
| 51 | CDK2 | 0.39349849 |
| 52 | MAPK1 | 0.38834750 |
| 53 | BMPR1B | 0.38510137 |
| 54 | GSK3B | 0.38158461 |
| 55 | CDK1 | 0.37802322 |
| 56 | BRSK1 | 0.37597611 |
| 57 | STK39 | 0.37096405 |
| 58 | MUSK | 0.36913383 |
| 59 | MAP3K8 | 0.36466493 |
| 60 | CAMK4 | 0.31630895 |
| 61 | MTOR | 0.31204877 |
| 62 | NTRK3 | 0.30779738 |
| 63 | MAP3K1 | 0.30105979 |
| 64 | PRKCG | 0.30092839 |
| 65 | MET | 0.28207529 |
| 66 | MAPK8 | 0.26547712 |
| 67 | PRKCZ | 0.25980762 |
| 68 | RPS6KC1 | 0.25788797 |
| 69 | RPS6KL1 | 0.25788797 |
| 70 | SGK1 | 0.25194940 |
| 71 | CHEK1 | 0.24306348 |
| 72 | RPS6KA6 | 0.22936447 |
| 73 | MARK2 | 0.21443345 |
| 74 | ARAF | 0.20966409 |
| 75 | CDK4 | 0.20892867 |
| 76 | BLK | 0.20754933 |
| 77 | JAK3 | 0.19704125 |
| 78 | PRKCB | 0.19695382 |
| 79 | MAP3K4 | 0.19350738 |
| 80 | NEK2 | 0.18945718 |
| 81 | MAPK14 | 0.18784295 |
| 82 | FRK | 0.18047521 |
| 83 | MAPK10 | 0.17143227 |
| 84 | MAPK11 | 0.16545198 |
| 85 | AKT1 | 0.14932300 |
| 86 | BRSK2 | 0.12965150 |
| 87 | SGK2 | 0.12732119 |
| 88 | TESK2 | 0.12277633 |
| 89 | NME1 | 0.11611166 |
| 90 | TNIK | 0.11102989 |
| 91 | OXSR1 | 0.11019732 |
| 92 | PKN1 | 0.10979473 |
| 93 | PRKACB | 0.09027958 |
| 94 | MAP3K7 | 0.06984796 |
| 95 | PRKACA | 0.06783968 |
| 96 | PRKAA1 | 0.04118821 |
| 97 | MAP2K7 | 0.03991573 |
| 98 | MAPK9 | 0.03655731 |
| 99 | ICK | 0.03611346 |
| 100 | CAMK2A | 0.03229493 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 6.74069787 |
| 2 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 6.71294232 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 4.08142200 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.32748917 |
| 5 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 2.27869707 |
| 6 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.11423653 |
| 7 | RNA transport_Homo sapiens_hsa03013 | 1.99689836 |
| 8 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.84338299 |
| 9 | Taste transduction_Homo sapiens_hsa04742 | 1.81868625 |
| 10 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.79376760 |
| 11 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.75484615 |
| 12 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.69395711 |
| 13 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.59215913 |
| 14 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.56366413 |
| 15 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.53895965 |
| 16 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.41567432 |
| 17 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.35201786 |
| 18 | Allograft rejection_Homo sapiens_hsa05330 | 1.30415380 |
| 19 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.29511137 |
| 20 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.22700455 |
| 21 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.22275361 |
| 22 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.19176040 |
| 23 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.17617669 |
| 24 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.16620103 |
| 25 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.15820185 |
| 26 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.13423994 |
| 27 | Salivary secretion_Homo sapiens_hsa04970 | 1.10881917 |
| 28 | Phototransduction_Homo sapiens_hsa04744 | 1.07063507 |
| 29 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.06873153 |
| 30 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.04242268 |
| 31 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.02892555 |
| 32 | Viral myocarditis_Homo sapiens_hsa05416 | 1.00238989 |
| 33 | ABC transporters_Homo sapiens_hsa02010 | 1.00085776 |
| 34 | Endocytosis_Homo sapiens_hsa04144 | 0.95755316 |
| 35 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.95680571 |
| 36 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.93696625 |
| 37 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.93295236 |
| 38 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.92316036 |
| 39 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.92234715 |
| 40 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.90499359 |
| 41 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.90006283 |
| 42 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.89224563 |
| 43 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.87163303 |
| 44 | Influenza A_Homo sapiens_hsa05164 | 0.85946348 |
| 45 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.84938610 |
| 46 | Morphine addiction_Homo sapiens_hsa05032 | 0.84890391 |
| 47 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.82067532 |
| 48 | Nicotine addiction_Homo sapiens_hsa05033 | 0.82009086 |
| 49 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.81259429 |
| 50 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.80195564 |
| 51 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.75653533 |
| 52 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.75515605 |
| 53 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.74092377 |
| 54 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.73386431 |
| 55 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.72152057 |
| 56 | Circadian entrainment_Homo sapiens_hsa04713 | 0.68947860 |
| 57 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.68207341 |
| 58 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.66416362 |
| 59 | Renin secretion_Homo sapiens_hsa04924 | 0.62633769 |
| 60 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.61747674 |
| 61 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.60789987 |
| 62 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.57236188 |
| 63 | Retinol metabolism_Homo sapiens_hsa00830 | 0.56762086 |
| 64 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.56391119 |
| 65 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.56039216 |
| 66 | Bile secretion_Homo sapiens_hsa04976 | 0.55704063 |
| 67 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.54173533 |
| 68 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.54042302 |
| 69 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.53424576 |
| 70 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.49511103 |
| 71 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.48828278 |
| 72 | Long-term potentiation_Homo sapiens_hsa04720 | 0.47987745 |
| 73 | Insulin secretion_Homo sapiens_hsa04911 | 0.47749694 |
| 74 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.47688058 |
| 75 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.46257574 |
| 76 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.45075493 |
| 77 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.41923293 |
| 78 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.41916811 |
| 79 | Purine metabolism_Homo sapiens_hsa00230 | 0.39628185 |
| 80 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.38953198 |
| 81 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.36404809 |
| 82 | Tight junction_Homo sapiens_hsa04530 | 0.34617048 |
| 83 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.33385465 |
| 84 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.32036662 |
| 85 | GABAergic synapse_Homo sapiens_hsa04727 | 0.29850002 |
| 86 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.29424742 |
| 87 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.25863769 |
| 88 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.25766011 |
| 89 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.25272027 |
| 90 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.21162836 |
| 91 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.21063599 |
| 92 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.21051965 |
| 93 | Basal transcription factors_Homo sapiens_hsa03022 | 0.19554499 |
| 94 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.19374702 |
| 95 | Huntingtons disease_Homo sapiens_hsa05016 | 0.19325051 |
| 96 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.18337093 |
| 97 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.17527177 |
| 98 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.16695499 |
| 99 | Sulfur relay system_Homo sapiens_hsa04122 | 0.15110926 |
| 100 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.13666436 |

