

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | spermatid development (GO:0007286) | 8.74061348 |
| 2 | sperm capacitation (GO:0048240) | 8.60078189 |
| 3 | protein polyglutamylation (GO:0018095) | 8.41564990 |
| 4 | plasma membrane fusion (GO:0045026) | 8.11144766 |
| 5 | microtubule depolymerization (GO:0007019) | 8.00673553 |
| 6 | protein targeting to Golgi (GO:0000042) | 7.67400229 |
| 7 | chromosome condensation (GO:0030261) | 7.65983056 |
| 8 | rRNA methylation (GO:0031167) | 7.60444012 |
| 9 | DNA packaging (GO:0006323) | 7.57680640 |
| 10 | multicellular organism reproduction (GO:0032504) | 7.35428427 |
| 11 | establishment of protein localization to Golgi (GO:0072600) | 7.34726430 |
| 12 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 7.29245465 |
| 13 | sperm-egg recognition (GO:0035036) | 7.17731242 |
| 14 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 7.17293922 |
| 15 | microtubule polymerization or depolymerization (GO:0031109) | 6.95449779 |
| 16 | phosphatidylethanolamine metabolic process (GO:0046337) | 6.69658775 |
| 17 | single strand break repair (GO:0000012) | 6.59911454 |
| 18 | rRNA modification (GO:0000154) | 6.51944888 |
| 19 | reproduction (GO:0000003) | 6.50892848 |
| 20 | spermatogenesis (GO:0007283) | 6.48372742 |
| 21 | male gamete generation (GO:0048232) | 6.46062560 |
| 22 | binding of sperm to zona pellucida (GO:0007339) | 6.35324354 |
| 23 | centriole replication (GO:0007099) | 6.30899020 |
| 24 | calcium ion-dependent exocytosis (GO:0017156) | 6.30857794 |
| 25 | spermatid nucleus differentiation (GO:0007289) | 6.27961259 |
| 26 | seminiferous tubule development (GO:0072520) | 6.26147532 |
| 27 | axonemal dynein complex assembly (GO:0070286) | 6.17247395 |
| 28 | cell-cell recognition (GO:0009988) | 6.00991383 |
| 29 | negative regulation of inclusion body assembly (GO:0090084) | 5.95778175 |
| 30 | gamete generation (GO:0007276) | 5.95645727 |
| 31 | microtubule severing (GO:0051013) | 5.93140896 |
| 32 | centriole assembly (GO:0098534) | 5.78872805 |
| 33 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.74219557 |
| 34 | protein localization to Golgi apparatus (GO:0034067) | 5.63493797 |
| 35 | RNA destabilization (GO:0050779) | 5.53038291 |
| 36 | response to pheromone (GO:0019236) | 5.48946754 |
| 37 | single fertilization (GO:0007338) | 5.47733442 |
| 38 | regulation of centriole replication (GO:0046599) | 5.31458284 |
| 39 | motile cilium assembly (GO:0044458) | 5.25472604 |
| 40 | sexual reproduction (GO:0019953) | 5.14891116 |
| 41 | regulation of cilium movement (GO:0003352) | 5.08953340 |
| 42 | epithelial cilium movement (GO:0003351) | 4.93058720 |
| 43 | cellular ketone body metabolic process (GO:0046950) | 4.91407503 |
| 44 | germ cell development (GO:0007281) | 4.87674093 |
| 45 | multicellular organismal reproductive process (GO:0048609) | 4.76616024 |
| 46 | fertilization (GO:0009566) | 4.73227593 |
| 47 | positive regulation of Rab GTPase activity (GO:0032851) | 4.68573734 |
| 48 | regulation of Rab GTPase activity (GO:0032313) | 4.68573734 |
| 49 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.65808120 |
| 50 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.49744147 |
| 51 | organic cation transport (GO:0015695) | 4.44286223 |
| 52 | ketone body metabolic process (GO:1902224) | 4.31900006 |
| 53 | cilium movement (GO:0003341) | 4.26536081 |
| 54 | regulation of inclusion body assembly (GO:0090083) | 4.24570494 |
| 55 | glomerular visceral epithelial cell development (GO:0072015) | 4.22621578 |
| 56 | cell wall macromolecule catabolic process (GO:0016998) | 4.20065965 |
| 57 | cell wall macromolecule metabolic process (GO:0044036) | 4.09133870 |
| 58 | microtubule nucleation (GO:0007020) | 4.02367285 |
| 59 | musculoskeletal movement (GO:0050881) | 4.02242712 |
| 60 | multicellular organismal movement (GO:0050879) | 4.02242712 |
| 61 | glycerol ether metabolic process (GO:0006662) | 3.97849123 |
| 62 | glomerular epithelial cell development (GO:0072310) | 3.95458768 |
| 63 | piRNA metabolic process (GO:0034587) | 3.87404301 |
| 64 | nucleus organization (GO:0006997) | 3.84770966 |
| 65 | ether metabolic process (GO:0018904) | 3.66280370 |
| 66 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.60562669 |
| 67 | polyamine biosynthetic process (GO:0006596) | 3.53296637 |
| 68 | regulation of microtubule-based movement (GO:0060632) | 3.49822345 |
| 69 | Golgi to endosome transport (GO:0006895) | 3.39397735 |
| 70 | response to acidic pH (GO:0010447) | 3.37901087 |
| 71 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 3.37587582 |
| 72 | cellular response to pH (GO:0071467) | 3.37131951 |
| 73 | axoneme assembly (GO:0035082) | 3.26956392 |
| 74 | ventricular system development (GO:0021591) | 3.20796839 |
| 75 | chromatin silencing (GO:0006342) | 3.20554456 |
| 76 | multicellular organismal development (GO:0007275) | 3.20025441 |
| 77 | centrosome duplication (GO:0051298) | 3.17322040 |
| 78 | nuclear pore complex assembly (GO:0051292) | 3.16629584 |
| 79 | male meiosis (GO:0007140) | 3.14159048 |
| 80 | male meiosis I (GO:0007141) | 3.13385781 |
| 81 | mitochondrial fission (GO:0000266) | 3.11424437 |
| 82 | nucleosome disassembly (GO:0006337) | 3.03778471 |
| 83 | protein-DNA complex disassembly (GO:0032986) | 3.03778471 |
| 84 | positive regulation of guanylate cyclase activity (GO:0031284) | 3.03750326 |
| 85 | regulation of guanylate cyclase activity (GO:0031282) | 2.91937952 |
| 86 | protein depolymerization (GO:0051261) | 2.90728188 |
| 87 | RNA localization (GO:0006403) | 2.88456774 |
| 88 | coenzyme catabolic process (GO:0009109) | 2.85543667 |
| 89 | cell recognition (GO:0008037) | 2.83533953 |
| 90 | peptidyl-threonine dephosphorylation (GO:0035970) | 2.83397937 |
| 91 | RNA methylation (GO:0001510) | 2.82511613 |
| 92 | peptidyl-glutamic acid modification (GO:0018200) | 2.82123521 |
| 93 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 2.81674956 |
| 94 | cerebral cortex neuron differentiation (GO:0021895) | 2.79397140 |
| 95 | regulation of meiosis I (GO:0060631) | 2.79386527 |
| 96 | intra-Golgi vesicle-mediated transport (GO:0006891) | 2.78887376 |
| 97 | DNA methylation involved in gamete generation (GO:0043046) | 2.77492016 |
| 98 | sperm motility (GO:0030317) | 12.5120531 |
| 99 | acrosome reaction (GO:0007340) | 11.1153646 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.6691810 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 4.65576166 |
| 2 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.46707723 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.40747598 |
| 4 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 3.34721183 |
| 5 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.43122733 |
| 6 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.43122733 |
| 7 | FUS_26573619_Chip-Seq_HEK293_Human | 2.42182517 |
| 8 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.40451897 |
| 9 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.21387526 |
| 10 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.19661496 |
| 11 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.18851015 |
| 12 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.15969169 |
| 13 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.15969169 |
| 14 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.15220931 |
| 15 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.95804491 |
| 16 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.94195534 |
| 17 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.80349214 |
| 18 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.79680454 |
| 19 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.77798646 |
| 20 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.73794523 |
| 21 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.73332703 |
| 22 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.72900891 |
| 23 | ERA_21632823_ChIP-Seq_H3396_Human | 1.69299860 |
| 24 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.63758237 |
| 25 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.62055159 |
| 26 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.59865701 |
| 27 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.59755449 |
| 28 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.56628567 |
| 29 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.56386571 |
| 30 | P68_20966046_ChIP-Seq_HELA_Human | 1.56193895 |
| 31 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.56122475 |
| 32 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.53244065 |
| 33 | * MYC_19829295_ChIP-Seq_ESCs_Human | 1.53173092 |
| 34 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.52060032 |
| 35 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.49508350 |
| 36 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.47310797 |
| 37 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.46872999 |
| 38 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.45560839 |
| 39 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.45030584 |
| 40 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.44644333 |
| 41 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.43962961 |
| 42 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.42929542 |
| 43 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.40882780 |
| 44 | * AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.40701880 |
| 45 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.40137608 |
| 46 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.37592589 |
| 47 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.37347037 |
| 48 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.37052217 |
| 49 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.34959735 |
| 50 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.34169191 |
| 51 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.31389114 |
| 52 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.30998324 |
| 53 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.30668647 |
| 54 | AR_25329375_ChIP-Seq_VCAP_Human | 1.30498555 |
| 55 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.30442227 |
| 56 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.29102423 |
| 57 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.28058937 |
| 58 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.27821468 |
| 59 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.27812130 |
| 60 | P300_27268052_Chip-Seq_Bcells_Human | 1.27794112 |
| 61 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.27433929 |
| 62 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.23541108 |
| 63 | P300_19829295_ChIP-Seq_ESCs_Human | 1.23174466 |
| 64 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.22420678 |
| 65 | NFYB_21822215_ChIP-Seq_K562_Human | 1.20456441 |
| 66 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.19834407 |
| 67 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.19487436 |
| 68 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.18994114 |
| 69 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.18660626 |
| 70 | TBL1_22424771_ChIP-Seq_293T_Human | 1.18422263 |
| 71 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.16958855 |
| 72 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.15343200 |
| 73 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.15193957 |
| 74 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.13028914 |
| 75 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.11995693 |
| 76 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.11110038 |
| 77 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.09320043 |
| 78 | * P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.09102120 |
| 79 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.07782060 |
| 80 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.07355977 |
| 81 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.07300605 |
| 82 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.06944215 |
| 83 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.05691850 |
| 84 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.05511499 |
| 85 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.05289326 |
| 86 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.04831748 |
| 87 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.04328534 |
| 88 | KLF4_19829295_ChIP-Seq_ESCs_Human | 1.02717098 |
| 89 | NFYA_21822215_ChIP-Seq_K562_Human | 1.02227117 |
| 90 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.01636820 |
| 91 | * STAT3_23295773_ChIP-Seq_U87_Human | 1.00706420 |
| 92 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.00399857 |
| 93 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.00341844 |
| 94 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.00086306 |
| 95 | VDR_22108803_ChIP-Seq_LS180_Human | 0.99641300 |
| 96 | RUNX2_22187159_ChIP-Seq_PCA_Human | 0.98583787 |
| 97 | SOX2_19829295_ChIP-Seq_ESCs_Human | 0.98115115 |
| 98 | NANOG_19829295_ChIP-Seq_ESCs_Human | 0.98115115 |
| 99 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 0.98056675 |
| 100 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 0.98007632 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005670_abnormal_white_adipose | 6.08459942 |
| 2 | MP0003878_abnormal_ear_physiology | 5.39900605 |
| 3 | MP0005377_hearing/vestibular/ear_phenot | 5.39900605 |
| 4 | MP0003698_abnormal_male_reproductive | 4.36038402 |
| 5 | MP0001929_abnormal_gametogenesis | 3.95741615 |
| 6 | MP0001348_abnormal_lacrimal_gland | 2.83178280 |
| 7 | MP0002161_abnormal_fertility/fecundity | 2.40827380 |
| 8 | MP0001485_abnormal_pinna_reflex | 2.34523592 |
| 9 | MP0005410_abnormal_fertilization | 11.7462624 |
| 10 | MP0002210_abnormal_sex_determination | 1.95810141 |
| 11 | MP0003718_maternal_effect | 1.82211378 |
| 12 | MP0005310_abnormal_salivary_gland | 1.81960711 |
| 13 | MP0003879_abnormal_hair_cell | 1.75391369 |
| 14 | MP0003646_muscle_fatigue | 1.75021997 |
| 15 | MP0000678_abnormal_parathyroid_gland | 1.73732334 |
| 16 | MP0005423_abnormal_somatic_nervous | 1.60695310 |
| 17 | MP0001145_abnormal_male_reproductive | 1.57677437 |
| 18 | MP0000653_abnormal_sex_gland | 1.51516693 |
| 19 | MP0001486_abnormal_startle_reflex | 1.49935878 |
| 20 | MP0002138_abnormal_hepatobiliary_system | 1.39867147 |
| 21 | MP0002282_abnormal_trachea_morphology | 1.36162704 |
| 22 | MP0003011_delayed_dark_adaptation | 1.34121048 |
| 23 | MP0002132_abnormal_respiratory_system | 1.33849458 |
| 24 | MP0009053_abnormal_anal_canal | 1.33799320 |
| 25 | MP0001963_abnormal_hearing_physiology | 1.33066749 |
| 26 | MP0005451_abnormal_body_composition | 1.31686470 |
| 27 | MP0002822_catalepsy | 1.25817221 |
| 28 | MP0005551_abnormal_eye_electrophysiolog | 1.22133391 |
| 29 | MP0001968_abnormal_touch/_nociception | 1.20407851 |
| 30 | MP0000013_abnormal_adipose_tissue | 1.17701027 |
| 31 | MP0005379_endocrine/exocrine_gland_phen | 1.16743705 |
| 32 | MP0001765_abnormal_ion_homeostasis | 1.15213142 |
| 33 | MP0005367_renal/urinary_system_phenotyp | 1.14144586 |
| 34 | MP0000516_abnormal_urinary_system | 1.14144586 |
| 35 | MP0009115_abnormal_fat_cell | 1.07254295 |
| 36 | MP0002234_abnormal_pharynx_morphology | 1.05773077 |
| 37 | MP0002249_abnormal_larynx_morphology | 1.05115189 |
| 38 | MP0002735_abnormal_chemical_nociception | 1.01366359 |
| 39 | MP0004859_abnormal_synaptic_plasticity | 1.01025529 |
| 40 | MP0005253_abnormal_eye_physiology | 1.00423182 |
| 41 | MP0000026_abnormal_inner_ear | 1.00288206 |
| 42 | MP0000534_abnormal_ureter_morphology | 1.00068564 |
| 43 | MP0004742_abnormal_vestibular_system | 0.99288196 |
| 44 | MP0001905_abnormal_dopamine_level | 0.95174959 |
| 45 | MP0005666_abnormal_adipose_tissue | 0.93607578 |
| 46 | MP0002928_abnormal_bile_duct | 0.93123293 |
| 47 | MP0000681_abnormal_thyroid_gland | 0.92204010 |
| 48 | MP0008569_lethality_at_weaning | 0.84088960 |
| 49 | MP0002229_neurodegeneration | 0.83423194 |
| 50 | MP0002127_abnormal_cardiovascular_syste | 0.80346577 |
| 51 | MP0000049_abnormal_middle_ear | 0.76901273 |
| 52 | MP0000003_abnormal_adipose_tissue | 0.72066949 |
| 53 | MP0005395_other_phenotype | 0.71488524 |
| 54 | MP0009697_abnormal_copulation | 0.69441045 |
| 55 | MP0002067_abnormal_sensory_capabilities | 0.69343726 |
| 56 | MP0004510_myositis | 0.65100723 |
| 57 | MP0005167_abnormal_blood-brain_barrier | 0.64385353 |
| 58 | MP0005375_adipose_tissue_phenotype | 0.62200853 |
| 59 | MP0000955_abnormal_spinal_cord | 0.61811489 |
| 60 | MP0000230_abnormal_systemic_arterial | 0.60801027 |
| 61 | MP0006292_abnormal_olfactory_placode | 0.58647317 |
| 62 | MP0002733_abnormal_thermal_nociception | 0.57222823 |
| 63 | MP0002557_abnormal_social/conspecific_i | 0.57013791 |
| 64 | MP0001984_abnormal_olfaction | 0.55466733 |
| 65 | MP0008877_abnormal_DNA_methylation | 0.55454842 |
| 66 | MP0002572_abnormal_emotion/affect_behav | 0.54257821 |
| 67 | MP0002272_abnormal_nervous_system | 0.53553092 |
| 68 | MP0005636_abnormal_mineral_homeostasis | 0.53401368 |
| 69 | MP0005083_abnormal_biliary_tract | 0.50682681 |
| 70 | MP0008995_early_reproductive_senescence | 0.50584050 |
| 71 | MP0005084_abnormal_gallbladder_morpholo | 0.50068361 |
| 72 | MP0002160_abnormal_reproductive_system | 0.49563569 |
| 73 | MP0001661_extended_life_span | 0.49121153 |
| 74 | MP0004085_abnormal_heartbeat | 0.48898569 |
| 75 | MP0003172_abnormal_lysosome_physiology | 0.47693881 |
| 76 | MP0000470_abnormal_stomach_morphology | 0.46154693 |
| 77 | MP0009745_abnormal_behavioral_response | 0.45582920 |
| 78 | MP0001970_abnormal_pain_threshold | 0.43962676 |
| 79 | MP0005391_vision/eye_phenotype | 0.43923062 |
| 80 | MP0004782_abnormal_surfactant_physiolog | 0.43475810 |
| 81 | MP0003631_nervous_system_phenotype | 0.42429312 |
| 82 | MP0003119_abnormal_digestive_system | 0.41588151 |
| 83 | MP0003699_abnormal_female_reproductive | 0.41489177 |
| 84 | MP0001270_distended_abdomen | 0.40981122 |
| 85 | MP0005397_hematopoietic_system_phenotyp | 0.40814086 |
| 86 | MP0001545_abnormal_hematopoietic_system | 0.40814086 |
| 87 | MP0003077_abnormal_cell_cycle | 0.40793728 |
| 88 | MP0005248_abnormal_Harderian_gland | 0.40358940 |
| 89 | MP0003724_increased_susceptibility_to | 0.40064056 |
| 90 | MP0005332_abnormal_amino_acid | 0.39298745 |
| 91 | MP0001501_abnormal_sleep_pattern | 0.39172172 |
| 92 | MP0010329_abnormal_lipoprotein_level | 0.39014655 |
| 93 | MP0005647_abnormal_sex_gland | 0.38943852 |
| 94 | MP0003936_abnormal_reproductive_system | 0.38786634 |
| 95 | MP0001849_ear_inflammation | 0.37551246 |
| 96 | MP0005535_abnormal_body_temperature | 0.36927275 |
| 97 | MP0003137_abnormal_impulse_conducting | 0.34745664 |
| 98 | MP0002734_abnormal_mechanical_nocicepti | 0.34602434 |
| 99 | MP0003635_abnormal_synaptic_transmissio | 0.34417507 |
| 100 | MP0001440_abnormal_grooming_behavior | 0.34405932 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 6.75498018 |
| 2 | Chronic hepatic failure (HP:0100626) | 6.56165234 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 6.12327629 |
| 4 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.12327629 |
| 5 | Tubulointerstitial nephritis (HP:0001970) | 6.04656064 |
| 6 | Asymmetric septal hypertrophy (HP:0001670) | 5.71434923 |
| 7 | Attenuation of retinal blood vessels (HP:0007843) | 5.07094544 |
| 8 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.86417426 |
| 9 | Hypoalphalipoproteinemia (HP:0003233) | 4.77763034 |
| 10 | Abnormal ciliary motility (HP:0012262) | 4.50557767 |
| 11 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.45648667 |
| 12 | Hyperkalemia (HP:0002153) | 4.37427816 |
| 13 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.33867676 |
| 14 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.30204027 |
| 15 | Male infertility (HP:0003251) | 4.20936259 |
| 16 | Cone-rod dystrophy (HP:0000548) | 4.18512923 |
| 17 | Resting tremor (HP:0002322) | 4.17381363 |
| 18 | Infertility (HP:0000789) | 4.10695060 |
| 19 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.09462351 |
| 20 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.09462351 |
| 21 | Abnormality of macular pigmentation (HP:0008002) | 4.07438048 |
| 22 | Nasal polyposis (HP:0100582) | 3.90283298 |
| 23 | Menstrual irregularities (HP:0000858) | 3.69885273 |
| 24 | Insulin-resistant diabetes mellitus (HP:0000831) | 3.65457734 |
| 25 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.46943495 |
| 26 | Hypoplasia of the thymus (HP:0000778) | 3.46280776 |
| 27 | Abnormality of dental color (HP:0011073) | 3.39879384 |
| 28 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.28843864 |
| 29 | Amelogenesis imperfecta (HP:0000705) | 3.20122826 |
| 30 | Impulsivity (HP:0100710) | 3.17786715 |
| 31 | Bell-shaped thorax (HP:0001591) | 3.14970970 |
| 32 | Abnormality of the nasal mucosa (HP:0000433) | 3.13004951 |
| 33 | Portal hypertension (HP:0001409) | 3.09982741 |
| 34 | Potter facies (HP:0002009) | 3.09862271 |
| 35 | Facial shape deformation (HP:0011334) | 3.09862271 |
| 36 | Postural instability (HP:0002172) | 3.05528183 |
| 37 | Truncal obesity (HP:0001956) | 3.03170119 |
| 38 | Hyperuricemia (HP:0002149) | 3.01374130 |
| 39 | Increased purine levels (HP:0004368) | 3.01374130 |
| 40 | Progressive sensorineural hearing impairment (HP:0000408) | 3.00521659 |
| 41 | Abnormality of the hepatic vasculature (HP:0006707) | 2.98411844 |
| 42 | Progressive cerebellar ataxia (HP:0002073) | 2.94890586 |
| 43 | Renovascular hypertension (HP:0100817) | 2.93484492 |
| 44 | Abnormality of the costochondral junction (HP:0000919) | 2.93480797 |
| 45 | Enlarged epiphyses (HP:0010580) | 2.87938706 |
| 46 | Tubulointerstitial abnormality (HP:0001969) | 2.77020730 |
| 47 | Nephronophthisis (HP:0000090) | 2.75895244 |
| 48 | Rhinitis (HP:0012384) | 2.62713897 |
| 49 | Stage 5 chronic kidney disease (HP:0003774) | 2.56808069 |
| 50 | Abnormal urine output (HP:0012590) | 2.50212603 |
| 51 | Abnormal drinking behavior (HP:0030082) | 2.45910952 |
| 52 | Polydipsia (HP:0001959) | 2.45910952 |
| 53 | Hypolipoproteinemia (HP:0010981) | 2.42154091 |
| 54 | Generalized aminoaciduria (HP:0002909) | 2.41070053 |
| 55 | Subcapsular cataract (HP:0000523) | 2.40334209 |
| 56 | Hypoplastic ischia (HP:0003175) | 2.40030945 |
| 57 | Abnormal spermatogenesis (HP:0008669) | 2.35911567 |
| 58 | Decreased central vision (HP:0007663) | 2.35733864 |
| 59 | Focal segmental glomerulosclerosis (HP:0000097) | 2.29885273 |
| 60 | Occipital encephalocele (HP:0002085) | 2.29684351 |
| 61 | Congenital sensorineural hearing impairment (HP:0008527) | 2.28627784 |
| 62 | Abnormality of the renal medulla (HP:0100957) | 2.28060321 |
| 63 | Intellectual disability, moderate (HP:0002342) | 2.26143036 |
| 64 | Abnormality of potassium homeostasis (HP:0011042) | 2.24644329 |
| 65 | Abnormality of the ischium (HP:0003174) | 2.16673279 |
| 66 | Insulin resistance (HP:0000855) | 2.14037300 |
| 67 | Osteomalacia (HP:0002749) | 2.12749202 |
| 68 | Abnormality of renal excretion (HP:0011036) | 2.12492416 |
| 69 | Renal Fanconi syndrome (HP:0001994) | 2.11585166 |
| 70 | Chronic bronchitis (HP:0004469) | 2.07380102 |
| 71 | Renal dysplasia (HP:0000110) | 2.06646987 |
| 72 | Recurrent pneumonia (HP:0006532) | 2.05794061 |
| 73 | Polyuria (HP:0000103) | 2.03451868 |
| 74 | Bronchiectasis (HP:0002110) | 2.03398844 |
| 75 | Cerebellar dysplasia (HP:0007033) | 2.01117056 |
| 76 | Photophobia (HP:0000613) | 1.96476983 |
| 77 | Hypoalbuminemia (HP:0003073) | 1.95347744 |
| 78 | Abnormal albumin level (HP:0012116) | 1.95347744 |
| 79 | Hypophosphatemic rickets (HP:0004912) | 1.94292982 |
| 80 | Abnormality of purine metabolism (HP:0004352) | 1.88952739 |
| 81 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.87312908 |
| 82 | Recurrent corneal erosions (HP:0000495) | 1.85556527 |
| 83 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 1.84253042 |
| 84 | Azoospermia (HP:0000027) | 1.84033252 |
| 85 | Flattened epiphyses (HP:0003071) | 1.84019199 |
| 86 | Glycosuria (HP:0003076) | 1.83191932 |
| 87 | Abnormality of urine glucose concentration (HP:0011016) | 1.83191932 |
| 88 | Myokymia (HP:0002411) | 1.82744269 |
| 89 | Progressive hearing impairment (HP:0001730) | 1.80860189 |
| 90 | Glomerulosclerosis (HP:0000096) | 1.78827661 |
| 91 | Hyponatremia (HP:0002902) | 1.76952487 |
| 92 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.76625876 |
| 93 | Absent epiphyses (HP:0010577) | 1.76625876 |
| 94 | Abnormality of the femoral head (HP:0003368) | 1.73592837 |
| 95 | Acanthosis nigricans (HP:0000956) | 1.72774694 |
| 96 | Widely patent fontanelles and sutures (HP:0004492) | 1.72735451 |
| 97 | Hypertriglyceridemia (HP:0002155) | 1.72488667 |
| 98 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 1.70871902 |
| 99 | Abnormality of femoral epiphyses (HP:0006499) | 1.70871902 |
| 100 | Type II diabetes mellitus (HP:0005978) | 1.70805833 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 9.44114810 |
| 2 | TESK1 | 4.42661212 |
| 3 | INSRR | 4.16761487 |
| 4 | BRD4 | 3.62562406 |
| 5 | PLK2 | 3.41627770 |
| 6 | DDR2 | 3.39505157 |
| 7 | STK38 | 3.01000040 |
| 8 | PNCK | 2.86356980 |
| 9 | MAPK15 | 2.44920356 |
| 10 | MAP4K2 | 2.36720606 |
| 11 | PRKD3 | 2.36318690 |
| 12 | STK38L | 2.35681107 |
| 13 | PIK3CG | 2.20271137 |
| 14 | TAF1 | 2.14839812 |
| 15 | CAMK1G | 2.14748912 |
| 16 | PDPK1 | 1.47964144 |
| 17 | MST1R | 1.47750463 |
| 18 | PDK1 | 1.44912972 |
| 19 | NEK6 | 1.37076187 |
| 20 | TYRO3 | 1.33304576 |
| 21 | LATS1 | 1.27266415 |
| 22 | PINK1 | 1.22072600 |
| 23 | DYRK1B | 1.10013106 |
| 24 | WNK1 | 1.09011373 |
| 25 | AKT3 | 1.07348101 |
| 26 | CDK12 | 1.05377112 |
| 27 | SIK2 | 0.96550507 |
| 28 | KSR2 | 0.96405767 |
| 29 | BRAF | 0.88726744 |
| 30 | PTK2B | 0.88085155 |
| 31 | PRKG2 | 0.86351611 |
| 32 | MAP3K9 | 0.81856573 |
| 33 | RPS6KA2 | 0.79597932 |
| 34 | CDK7 | 0.79278687 |
| 35 | RIPK4 | 0.74354656 |
| 36 | TIE1 | 0.73412564 |
| 37 | ARAF | 0.71724407 |
| 38 | DAPK2 | 0.71587670 |
| 39 | MAP3K11 | 0.66559243 |
| 40 | RPS6KC1 | 0.65708708 |
| 41 | RPS6KL1 | 0.65708708 |
| 42 | RPS6KA1 | 0.63018866 |
| 43 | SGK494 | 0.61813066 |
| 44 | SGK223 | 0.61813066 |
| 45 | RPS6KA6 | 0.60321723 |
| 46 | JAK3 | 0.59651059 |
| 47 | MARK3 | 0.58216387 |
| 48 | WNK4 | 0.57500337 |
| 49 | CAMK1D | 0.55996437 |
| 50 | PRKG1 | 0.54781988 |
| 51 | NUAK1 | 0.50651661 |
| 52 | TESK2 | 0.47107815 |
| 53 | CDK9 | 0.45838145 |
| 54 | CAMK1 | 0.44169919 |
| 55 | MAP3K2 | 0.43688993 |
| 56 | CDK3 | 0.43193971 |
| 57 | STK39 | 0.42423440 |
| 58 | MAP2K1 | 0.42024634 |
| 59 | MAPK1 | 0.40657883 |
| 60 | MAP2K2 | 0.39972224 |
| 61 | BRSK1 | 0.39583678 |
| 62 | ROCK1 | 0.38831512 |
| 63 | MUSK | 0.38119772 |
| 64 | GSK3B | 0.37629390 |
| 65 | KIT | 0.36515210 |
| 66 | MAP3K1 | 0.36225972 |
| 67 | CDK2 | 0.34977083 |
| 68 | PRKAA2 | 0.34928616 |
| 69 | SGK2 | 0.30912400 |
| 70 | FLT3 | 0.30549291 |
| 71 | MAP3K7 | 0.30060949 |
| 72 | CDK1 | 0.28260684 |
| 73 | MAPK8 | 0.26892485 |
| 74 | ADRBK2 | 0.26588134 |
| 75 | SGK1 | 0.23440026 |
| 76 | PRKCG | 0.23110045 |
| 77 | VRK1 | 0.21653009 |
| 78 | MAP3K4 | 0.19737323 |
| 79 | UHMK1 | 0.19468488 |
| 80 | MAP3K8 | 0.18997657 |
| 81 | MAPK11 | 0.18947165 |
| 82 | PRKCH | 0.18566075 |
| 83 | GRK1 | 0.18351057 |
| 84 | PRKCB | 0.17603370 |
| 85 | MTOR | 0.16159198 |
| 86 | MAP2K7 | 0.16071055 |
| 87 | NTRK3 | 0.16000951 |
| 88 | MAPK14 | 0.15885880 |
| 89 | BLK | 0.15195987 |
| 90 | FRK | 0.14613426 |
| 91 | TXK | 0.14068724 |
| 92 | PRKCZ | 0.13181607 |
| 93 | MAPK10 | 0.12487118 |
| 94 | LATS2 | 0.12390107 |
| 95 | TLK1 | 0.11530140 |
| 96 | NEK2 | 0.11407519 |
| 97 | MAPKAPK5 | 0.11090918 |
| 98 | RPS6KA5 | 0.10619929 |
| 99 | BMPR1B | 0.09657026 |
| 100 | SGK3 | 0.09467154 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 7.21185899 |
| 2 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 6.43842676 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.88789032 |
| 4 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 2.42475833 |
| 5 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.41185709 |
| 6 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.25754305 |
| 7 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.91714833 |
| 8 | Taste transduction_Homo sapiens_hsa04742 | 1.81644530 |
| 9 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.79185241 |
| 10 | RNA transport_Homo sapiens_hsa03013 | 1.72584918 |
| 11 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.63768588 |
| 12 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.59800018 |
| 13 | Phototransduction_Homo sapiens_hsa04744 | 1.54476056 |
| 14 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.44509312 |
| 15 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.41971231 |
| 16 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.39692362 |
| 17 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.37007718 |
| 18 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.28229968 |
| 19 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.27671461 |
| 20 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.19038560 |
| 21 | ABC transporters_Homo sapiens_hsa02010 | 1.14902790 |
| 22 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.11607952 |
| 23 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.10844806 |
| 24 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.04381319 |
| 25 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.02452123 |
| 26 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.02316508 |
| 27 | Salivary secretion_Homo sapiens_hsa04970 | 1.00586663 |
| 28 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.93568722 |
| 29 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.91240491 |
| 30 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.91084387 |
| 31 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.89247780 |
| 32 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.88361770 |
| 33 | Morphine addiction_Homo sapiens_hsa05032 | 0.88329022 |
| 34 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.88180722 |
| 35 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.87012036 |
| 36 | Nicotine addiction_Homo sapiens_hsa05033 | 0.85899013 |
| 37 | Basal transcription factors_Homo sapiens_hsa03022 | 0.82085425 |
| 38 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.81496031 |
| 39 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.80348730 |
| 40 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.78406051 |
| 41 | Circadian entrainment_Homo sapiens_hsa04713 | 0.75410311 |
| 42 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.75046876 |
| 43 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.74108014 |
| 44 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.73733208 |
| 45 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.71946819 |
| 46 | Renin secretion_Homo sapiens_hsa04924 | 0.68627966 |
| 47 | Endocytosis_Homo sapiens_hsa04144 | 0.67526788 |
| 48 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.67236280 |
| 49 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.66048403 |
| 50 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.65703947 |
| 51 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.64651849 |
| 52 | Allograft rejection_Homo sapiens_hsa05330 | 0.64393440 |
| 53 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.64379839 |
| 54 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.64176484 |
| 55 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.63743843 |
| 56 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.62524963 |
| 57 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.61276662 |
| 58 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.60070422 |
| 59 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.59984551 |
| 60 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.59557383 |
| 61 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.59260623 |
| 62 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.58787356 |
| 63 | Influenza A_Homo sapiens_hsa05164 | 0.57705317 |
| 64 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.54469902 |
| 65 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.53395829 |
| 66 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.53169193 |
| 67 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.52928393 |
| 68 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.52458701 |
| 69 | Purine metabolism_Homo sapiens_hsa00230 | 0.51319402 |
| 70 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.50380735 |
| 71 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.50136466 |
| 72 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.50004132 |
| 73 | Gap junction_Homo sapiens_hsa04540 | 0.47181458 |
| 74 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.46423526 |
| 75 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.46365064 |
| 76 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.43464923 |
| 77 | Long-term potentiation_Homo sapiens_hsa04720 | 0.42877538 |
| 78 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.40948746 |
| 79 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.40825780 |
| 80 | Retinol metabolism_Homo sapiens_hsa00830 | 0.40365216 |
| 81 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.40072082 |
| 82 | Bile secretion_Homo sapiens_hsa04976 | 0.39505394 |
| 83 | Viral myocarditis_Homo sapiens_hsa05416 | 0.39468793 |
| 84 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.38155609 |
| 85 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.33498166 |
| 86 | Insulin secretion_Homo sapiens_hsa04911 | 0.33397841 |
| 87 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.31975253 |
| 88 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.31905040 |
| 89 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.31212563 |
| 90 | T cell receptor signaling pathway_Homo sapiens_hsa04660 | 0.31186800 |
| 91 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.29068331 |
| 92 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.28035337 |
| 93 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.25914848 |
| 94 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.25163962 |
| 95 | GABAergic synapse_Homo sapiens_hsa04727 | 0.24436770 |
| 96 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.21935698 |
| 97 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.21589828 |
| 98 | Huntingtons disease_Homo sapiens_hsa05016 | 0.21090018 |
| 99 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.19808553 |
| 100 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.19630440 |

