

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | spermatid development (GO:0007286) | 9.51048549 |
| 2 | multicellular organism reproduction (GO:0032504) | 8.27481232 |
| 3 | binding of sperm to zona pellucida (GO:0007339) | 7.83942035 |
| 4 | sperm-egg recognition (GO:0035036) | 7.82265428 |
| 5 | plasma membrane fusion (GO:0045026) | 7.73867262 |
| 6 | sperm capacitation (GO:0048240) | 7.54996244 |
| 7 | axonemal dynein complex assembly (GO:0070286) | 7.36813360 |
| 8 | reproduction (GO:0000003) | 6.95995819 |
| 9 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 6.94519612 |
| 10 | microtubule depolymerization (GO:0007019) | 6.91038707 |
| 11 | protein targeting to Golgi (GO:0000042) | 6.89694027 |
| 12 | chromosome condensation (GO:0030261) | 6.88717039 |
| 13 | DNA packaging (GO:0006323) | 6.66742204 |
| 14 | motile cilium assembly (GO:0044458) | 6.63823670 |
| 15 | establishment of protein localization to Golgi (GO:0072600) | 6.61496577 |
| 16 | cell-cell recognition (GO:0009988) | 6.59727169 |
| 17 | calcium ion-dependent exocytosis (GO:0017156) | 6.49929577 |
| 18 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.47308143 |
| 19 | cilium or flagellum-dependent cell motility (GO:0001539) | 6.42038737 |
| 20 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 6.39753030 |
| 21 | protein polyglutamylation (GO:0018095) | 6.38209016 |
| 22 | male meiosis (GO:0007140) | 6.16566878 |
| 23 | spermatid nucleus differentiation (GO:0007289) | 6.14959600 |
| 24 | microtubule polymerization or depolymerization (GO:0031109) | 6.00863924 |
| 25 | single fertilization (GO:0007338) | 5.95992150 |
| 26 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.95245161 |
| 27 | spermatogenesis (GO:0007283) | 5.94228870 |
| 28 | male gamete generation (GO:0048232) | 5.92019559 |
| 29 | single strand break repair (GO:0000012) | 5.78323352 |
| 30 | rRNA methylation (GO:0031167) | 5.78013128 |
| 31 | negative regulation of inclusion body assembly (GO:0090084) | 5.69456954 |
| 32 | epithelial cilium movement (GO:0003351) | 5.59485789 |
| 33 | centriole assembly (GO:0098534) | 5.59475664 |
| 34 | centriole replication (GO:0007099) | 5.57114124 |
| 35 | germ cell development (GO:0007281) | 5.49353090 |
| 36 | gamete generation (GO:0007276) | 5.45477986 |
| 37 | protein-DNA complex disassembly (GO:0032986) | 5.36663704 |
| 38 | nucleosome disassembly (GO:0006337) | 5.36663704 |
| 39 | organic cation transport (GO:0015695) | 5.32246606 |
| 40 | response to pheromone (GO:0019236) | 5.29604952 |
| 41 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.92869690 |
| 42 | polyamine biosynthetic process (GO:0006596) | 4.91109843 |
| 43 | protein localization to Golgi apparatus (GO:0034067) | 4.88523394 |
| 44 | fertilization (GO:0009566) | 4.83168356 |
| 45 | microtubule severing (GO:0051013) | 4.82662307 |
| 46 | rRNA modification (GO:0000154) | 4.80755571 |
| 47 | cilium movement (GO:0003341) | 4.76000277 |
| 48 | positive regulation of synaptic transmission, dopaminergic (GO:0032226) | 4.60578064 |
| 49 | regulation of cilium movement (GO:0003352) | 4.59270270 |
| 50 | regulation of Rab GTPase activity (GO:0032313) | 4.55507806 |
| 51 | positive regulation of Rab GTPase activity (GO:0032851) | 4.55507806 |
| 52 | regulation of centriole replication (GO:0046599) | 4.44307345 |
| 53 | sexual reproduction (GO:0019953) | 4.41945331 |
| 54 | multicellular organismal reproductive process (GO:0048609) | 4.38930122 |
| 55 | positive regulation of catecholamine secretion (GO:0033605) | 4.34855377 |
| 56 | seminiferous tubule development (GO:0072520) | 4.34243149 |
| 57 | response to acidic pH (GO:0010447) | 4.31896981 |
| 58 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.22090686 |
| 59 | ventricular system development (GO:0021591) | 4.15625073 |
| 60 | coenzyme catabolic process (GO:0009109) | 4.04772129 |
| 61 | regulation of inclusion body assembly (GO:0090083) | 3.94595530 |
| 62 | male sex determination (GO:0030238) | 3.78104272 |
| 63 | cell wall macromolecule metabolic process (GO:0044036) | 3.75779043 |
| 64 | RNA destabilization (GO:0050779) | 3.72027217 |
| 65 | cellular response to pH (GO:0071467) | 3.68590424 |
| 66 | histone H3-K9 demethylation (GO:0033169) | 3.61754249 |
| 67 | histone exchange (GO:0043486) | 3.55653257 |
| 68 | cellular ketone body metabolic process (GO:0046950) | 3.46414055 |
| 69 | nucleus organization (GO:0006997) | 3.44261029 |
| 70 | cell wall macromolecule catabolic process (GO:0016998) | 3.37204950 |
| 71 | synapsis (GO:0007129) | 3.34611968 |
| 72 | acrosome assembly (GO:0001675) | 3.30684985 |
| 73 | microtubule nucleation (GO:0007020) | 3.28815085 |
| 74 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 3.28631613 |
| 75 | musculoskeletal movement (GO:0050881) | 3.28354961 |
| 76 | multicellular organismal movement (GO:0050879) | 3.28354961 |
| 77 | mitochondrion degradation (GO:0000422) | 3.28142510 |
| 78 | cellular biogenic amine biosynthetic process (GO:0042401) | 3.27170504 |
| 79 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.22359599 |
| 80 | cell recognition (GO:0008037) | 3.20955501 |
| 81 | piRNA metabolic process (GO:0034587) | 3.19066944 |
| 82 | amine biosynthetic process (GO:0009309) | 3.15780421 |
| 83 | regulation of ARF GTPase activity (GO:0032312) | 3.12396724 |
| 84 | potassium ion export (GO:0071435) | 3.03950797 |
| 85 | ketone body metabolic process (GO:1902224) | 3.03799702 |
| 86 | positive regulation of glycolytic process (GO:0045821) | 3.03060500 |
| 87 | meiotic nuclear division (GO:0007126) | 3.01764708 |
| 88 | receptor recycling (GO:0001881) | 3.00006109 |
| 89 | chromatin silencing (GO:0006342) | 2.99673923 |
| 90 | multicellular organismal development (GO:0007275) | 2.96436893 |
| 91 | glomerular visceral epithelial cell development (GO:0072015) | 2.96381769 |
| 92 | DNA methylation involved in gamete generation (GO:0043046) | 2.95781437 |
| 93 | oogenesis (GO:0048477) | 2.95267262 |
| 94 | Leydig cell differentiation (GO:0033327) | 2.88192149 |
| 95 | relaxation of smooth muscle (GO:0044557) | 2.84136706 |
| 96 | chromosome organization involved in meiosis (GO:0070192) | 2.81310387 |
| 97 | regulation of microtubule-based movement (GO:0060632) | 2.80274652 |
| 98 | sperm motility (GO:0030317) | 12.5604270 |
| 99 | acrosome reaction (GO:0007340) | 12.1663756 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.1189097 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 6.54616103 |
| 2 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 4.79975222 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.20876666 |
| 4 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.97063316 |
| 5 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.79975427 |
| 6 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.57533570 |
| 7 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.57533570 |
| 8 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.53306703 |
| 9 | FUS_26573619_Chip-Seq_HEK293_Human | 2.49047565 |
| 10 | * VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.39995295 |
| 11 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 2.31991458 |
| 12 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.31860308 |
| 13 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.31859370 |
| 14 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.31859370 |
| 15 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 2.25291356 |
| 16 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 2.00095208 |
| 17 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.98282504 |
| 18 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.96505010 |
| 19 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.96207999 |
| 20 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.93342401 |
| 21 | ERA_21632823_ChIP-Seq_H3396_Human | 1.88169192 |
| 22 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.87824141 |
| 23 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.79218286 |
| 24 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.77072006 |
| 25 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.76371123 |
| 26 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.75369063 |
| 27 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.70347188 |
| 28 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.68727722 |
| 29 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.66591577 |
| 30 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.65303445 |
| 31 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.62174773 |
| 32 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.61828408 |
| 33 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.59931317 |
| 34 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.56946023 |
| 35 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.54124338 |
| 36 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.52522462 |
| 37 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.52123248 |
| 38 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.47203563 |
| 39 | TBL1_22424771_ChIP-Seq_293T_Human | 1.45682787 |
| 40 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.43585887 |
| 41 | P300_19829295_ChIP-Seq_ESCs_Human | 1.41452286 |
| 42 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.40470175 |
| 43 | AR_25329375_ChIP-Seq_VCAP_Human | 1.39770151 |
| 44 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.38691067 |
| 45 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.36154179 |
| 46 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 1.33996125 |
| 47 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.33969845 |
| 48 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.33829205 |
| 49 | * ERG_20517297_ChIP-Seq_VCAP_Human | 1.33442666 |
| 50 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.31868674 |
| 51 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.31711203 |
| 52 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.30674716 |
| 53 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.30366479 |
| 54 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.29929613 |
| 55 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.28998122 |
| 56 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.28770391 |
| 57 | P68_20966046_ChIP-Seq_HELA_Human | 1.28420687 |
| 58 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.27611738 |
| 59 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.27112315 |
| 60 | P300_27268052_Chip-Seq_Bcells_Human | 1.25966464 |
| 61 | NFYB_21822215_ChIP-Seq_K562_Human | 1.24595739 |
| 62 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.22036051 |
| 63 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.21108612 |
| 64 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.20903216 |
| 65 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.20509065 |
| 66 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.20171416 |
| 67 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.18907313 |
| 68 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.18186867 |
| 69 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.18068112 |
| 70 | * ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.15993107 |
| 71 | * PHF8_20622854_ChIP-Seq_HELA_Human | 1.15805833 |
| 72 | * TP63_22573176_ChIP-Seq_HFKS_Human | 1.15660012 |
| 73 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.14972003 |
| 74 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.14895089 |
| 75 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.14876251 |
| 76 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.14754470 |
| 77 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.14754470 |
| 78 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.12653821 |
| 79 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.11319821 |
| 80 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.11001310 |
| 81 | STAT3_23295773_ChIP-Seq_U87_Human | 1.10879241 |
| 82 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.10780811 |
| 83 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.10712813 |
| 84 | SPI1_20517297_ChIP-Seq_HL60_Human | 1.10110012 |
| 85 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.08683402 |
| 86 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.06235804 |
| 87 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.05741932 |
| 88 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.04409344 |
| 89 | NFYA_21822215_ChIP-Seq_K562_Human | 1.03285705 |
| 90 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.03064134 |
| 91 | P53_22127205_ChIP-Seq_FIBROBLAST_Human | 1.01872139 |
| 92 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.00884017 |
| 93 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.00356079 |
| 94 | GF1_26923725_Chip-Seq_HPCs_Mouse | 0.98777523 |
| 95 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 0.98171969 |
| 96 | FOXH1_21741376_ChIP-Seq_ESCs_Human | 0.98005816 |
| 97 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.96996834 |
| 98 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 0.96742781 |
| 99 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 0.96733472 |
| 100 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 0.95656700 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 4.55165895 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 4.50910115 |
| 3 | MP0003878_abnormal_ear_physiology | 4.50910115 |
| 4 | MP0001929_abnormal_gametogenesis | 4.02991714 |
| 5 | MP0005670_abnormal_white_adipose | 3.36647142 |
| 6 | MP0008004_abnormal_stomach_pH | 3.19963140 |
| 7 | MP0003315_abnormal_perineum_morphology | 2.94345409 |
| 8 | MP0002132_abnormal_respiratory_system | 2.47351702 |
| 9 | MP0002161_abnormal_fertility/fecundity | 2.46580167 |
| 10 | MP0001348_abnormal_lacrimal_gland | 2.29749708 |
| 11 | MP0003718_maternal_effect | 2.09105310 |
| 12 | MP0002210_abnormal_sex_determination | 2.02110185 |
| 13 | MP0005410_abnormal_fertilization | 12.7401457 |
| 14 | MP0005360_urolithiasis | 1.92628719 |
| 15 | MP0000678_abnormal_parathyroid_gland | 1.71857993 |
| 16 | MP0001145_abnormal_male_reproductive | 1.70755952 |
| 17 | MP0002160_abnormal_reproductive_system | 1.61795727 |
| 18 | MP0001984_abnormal_olfaction | 1.61451299 |
| 19 | MP0005451_abnormal_body_composition | 1.61084960 |
| 20 | MP0001485_abnormal_pinna_reflex | 1.60608018 |
| 21 | MP0000653_abnormal_sex_gland | 1.58277981 |
| 22 | MP0003646_muscle_fatigue | 1.39431583 |
| 23 | MP0003879_abnormal_hair_cell | 1.34916052 |
| 24 | MP0001905_abnormal_dopamine_level | 1.34686116 |
| 25 | MP0003045_fibrosis | 1.32003631 |
| 26 | MP0001486_abnormal_startle_reflex | 1.29959518 |
| 27 | MP0002822_catalepsy | 1.29832002 |
| 28 | MP0005647_abnormal_sex_gland | 1.28521243 |
| 29 | MP0005379_endocrine/exocrine_gland_phen | 1.22713118 |
| 30 | MP0009697_abnormal_copulation | 1.21373072 |
| 31 | MP0008995_early_reproductive_senescence | 1.20807719 |
| 32 | MP0005395_other_phenotype | 1.17837454 |
| 33 | MP0002249_abnormal_larynx_morphology | 1.15342734 |
| 34 | MP0002282_abnormal_trachea_morphology | 1.12535238 |
| 35 | MP0002127_abnormal_cardiovascular_syste | 1.09777977 |
| 36 | MP0005248_abnormal_Harderian_gland | 1.07324174 |
| 37 | MP0004859_abnormal_synaptic_plasticity | 1.06822859 |
| 38 | MP0010386_abnormal_urinary_bladder | 1.05821752 |
| 39 | MP0001963_abnormal_hearing_physiology | 0.99579209 |
| 40 | MP0004742_abnormal_vestibular_system | 0.96294168 |
| 41 | MP0002138_abnormal_hepatobiliary_system | 0.96238517 |
| 42 | MP0005499_abnormal_olfactory_system | 0.96150267 |
| 43 | MP0005394_taste/olfaction_phenotype | 0.96150267 |
| 44 | MP0005253_abnormal_eye_physiology | 0.94254149 |
| 45 | MP0005423_abnormal_somatic_nervous | 0.93691427 |
| 46 | MP0004085_abnormal_heartbeat | 0.87162100 |
| 47 | MP0003136_yellow_coat_color | 0.86758193 |
| 48 | MP0000026_abnormal_inner_ear | 0.85675735 |
| 49 | MP0001664_abnormal_digestion | 0.84671243 |
| 50 | MP0001968_abnormal_touch/_nociception | 0.83966099 |
| 51 | MP0010368_abnormal_lymphatic_system | 0.80999853 |
| 52 | MP0005551_abnormal_eye_electrophysiolog | 0.80093292 |
| 53 | MP0000534_abnormal_ureter_morphology | 0.79466107 |
| 54 | MP0004084_abnormal_cardiac_muscle | 0.76899547 |
| 55 | MP0005310_abnormal_salivary_gland | 0.75585070 |
| 56 | MP0001765_abnormal_ion_homeostasis | 0.75302052 |
| 57 | MP0009115_abnormal_fat_cell | 0.73571024 |
| 58 | MP0001501_abnormal_sleep_pattern | 0.73311922 |
| 59 | MP0000538_abnormal_urinary_bladder | 0.73052653 |
| 60 | MP0005389_reproductive_system_phenotype | 0.70571381 |
| 61 | MP0003632_abnormal_nervous_system | 0.69340061 |
| 62 | MP0003631_nervous_system_phenotype | 0.67843455 |
| 63 | MP0003936_abnormal_reproductive_system | 0.67533384 |
| 64 | MP0004036_abnormal_muscle_relaxation | 0.66345046 |
| 65 | MP0005167_abnormal_blood-brain_barrier | 0.66072255 |
| 66 | MP0002735_abnormal_chemical_nociception | 0.65352656 |
| 67 | MP0002067_abnormal_sensory_capabilities | 0.63489955 |
| 68 | MP0002229_neurodegeneration | 0.63246672 |
| 69 | MP0000230_abnormal_systemic_arterial | 0.63159775 |
| 70 | MP0008877_abnormal_DNA_methylation | 0.59349251 |
| 71 | MP0000470_abnormal_stomach_morphology | 0.58993388 |
| 72 | MP0002168_other_aberrant_phenotype | 0.58717927 |
| 73 | MP0000955_abnormal_spinal_cord | 0.58505348 |
| 74 | MP0003011_delayed_dark_adaptation | 0.57475715 |
| 75 | MP0001188_hyperpigmentation | 0.56075522 |
| 76 | MP0009053_abnormal_anal_canal | 0.55765538 |
| 77 | MP0002272_abnormal_nervous_system | 0.54101288 |
| 78 | MP0000049_abnormal_middle_ear | 0.51880071 |
| 79 | MP0003633_abnormal_nervous_system | 0.51684079 |
| 80 | MP0002557_abnormal_social/conspecific_i | 0.51228962 |
| 81 | MP0002572_abnormal_emotion/affect_behav | 0.49828288 |
| 82 | MP0000681_abnormal_thyroid_gland | 0.49377145 |
| 83 | MP0006072_abnormal_retinal_apoptosis | 0.49356173 |
| 84 | MP0002234_abnormal_pharynx_morphology | 0.47969170 |
| 85 | MP0005595_abnormal_vascular_smooth | 0.47857193 |
| 86 | MP0004484_altered_response_of | 0.45981934 |
| 87 | MP0005058_abnormal_lysosome_morphology | 0.45864374 |
| 88 | MP0004782_abnormal_surfactant_physiolog | 0.45377299 |
| 89 | MP0001270_distended_abdomen | 0.45100699 |
| 90 | MP0005391_vision/eye_phenotype | 0.43640454 |
| 91 | MP0003635_abnormal_synaptic_transmissio | 0.41458675 |
| 92 | MP0009745_abnormal_behavioral_response | 0.40886805 |
| 93 | MP0005623_abnormal_meninges_morphology | 0.40326811 |
| 94 | MP0008789_abnormal_olfactory_epithelium | 0.40153876 |
| 95 | MP0004510_myositis | 0.39985494 |
| 96 | MP0001545_abnormal_hematopoietic_system | 0.39313665 |
| 97 | MP0005397_hematopoietic_system_phenotyp | 0.39313665 |
| 98 | MP0008569_lethality_at_weaning | 0.38644192 |
| 99 | MP0001666_abnormal_nutrient_absorption | 0.37545990 |
| 100 | MP0005646_abnormal_pituitary_gland | 0.36167504 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 7.18897800 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 7.18897800 |
| 3 | Resting tremor (HP:0002322) | 6.97634119 |
| 4 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 6.17792950 |
| 5 | Abnormal respiratory motile cilium physiology (HP:0012261) | 5.96759204 |
| 6 | Abnormal ciliary motility (HP:0012262) | 5.89299615 |
| 7 | Tubulointerstitial nephritis (HP:0001970) | 5.40604333 |
| 8 | Severe visual impairment (HP:0001141) | 5.33794972 |
| 9 | Abnormal respiratory motile cilium morphology (HP:0005938) | 5.11186466 |
| 10 | Abnormal respiratory epithelium morphology (HP:0012253) | 5.11186466 |
| 11 | Infertility (HP:0000789) | 5.07483050 |
| 12 | Chronic hepatic failure (HP:0100626) | 4.86674658 |
| 13 | Postural instability (HP:0002172) | 4.66134071 |
| 14 | Asymmetric septal hypertrophy (HP:0001670) | 4.65676208 |
| 15 | Nasal polyposis (HP:0100582) | 4.53943180 |
| 16 | Abnormal sex determination (HP:0012244) | 4.21150614 |
| 17 | Sex reversal (HP:0012245) | 4.21150614 |
| 18 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.93801705 |
| 19 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.93671064 |
| 20 | Male infertility (HP:0003251) | 3.89325013 |
| 21 | Attenuation of retinal blood vessels (HP:0007843) | 3.82488820 |
| 22 | Abnormality of the nasal mucosa (HP:0000433) | 3.80651479 |
| 23 | Abnormality of macular pigmentation (HP:0008002) | 3.77945310 |
| 24 | Rhinitis (HP:0012384) | 3.45984151 |
| 25 | Hypoplasia of the uterus (HP:0000013) | 3.40201152 |
| 26 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.23450767 |
| 27 | Hyperkalemia (HP:0002153) | 3.22048215 |
| 28 | Cone-rod dystrophy (HP:0000548) | 3.19660960 |
| 29 | Impulsivity (HP:0100710) | 3.16582432 |
| 30 | Bell-shaped thorax (HP:0001591) | 3.13324000 |
| 31 | Abnormality of dental color (HP:0011073) | 2.94780629 |
| 32 | Gonadal dysgenesis (HP:0000133) | 2.92908457 |
| 33 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.88666356 |
| 34 | Chronic bronchitis (HP:0004469) | 2.83607891 |
| 35 | Cerebellar dysplasia (HP:0007033) | 2.83459589 |
| 36 | Hypoplasia of the thymus (HP:0000778) | 2.78795991 |
| 37 | Facial shape deformation (HP:0011334) | 2.77014836 |
| 38 | Potter facies (HP:0002009) | 2.77014836 |
| 39 | Hypoalphalipoproteinemia (HP:0003233) | 2.75515138 |
| 40 | Colitis (HP:0002583) | 2.66417436 |
| 41 | Male pseudohermaphroditism (HP:0000037) | 2.59431393 |
| 42 | Abnormality of the columella (HP:0009929) | 2.55015679 |
| 43 | Bronchiectasis (HP:0002110) | 2.53058358 |
| 44 | Aplasia/hypoplasia of the uterus (HP:0008684) | 2.52407521 |
| 45 | Menstrual irregularities (HP:0000858) | 2.51803408 |
| 46 | Congenital sensorineural hearing impairment (HP:0008527) | 2.49672636 |
| 47 | Polydipsia (HP:0001959) | 2.48307967 |
| 48 | Abnormal drinking behavior (HP:0030082) | 2.48307967 |
| 49 | Occipital encephalocele (HP:0002085) | 2.47372468 |
| 50 | Progressive sensorineural hearing impairment (HP:0000408) | 2.41569094 |
| 51 | Type II lissencephaly (HP:0007260) | 2.40014055 |
| 52 | Tubulointerstitial abnormality (HP:0001969) | 2.39882820 |
| 53 | Hypoplastic ischia (HP:0003175) | 2.38758491 |
| 54 | Renovascular hypertension (HP:0100817) | 2.38422115 |
| 55 | Progressive cerebellar ataxia (HP:0002073) | 2.37385676 |
| 56 | Abnormal urine output (HP:0012590) | 2.37344755 |
| 57 | Portal hypertension (HP:0001409) | 2.37086441 |
| 58 | Abnormal spermatogenesis (HP:0008669) | 2.32608413 |
| 59 | Germ cell neoplasia (HP:0100728) | 2.31721137 |
| 60 | Amelogenesis imperfecta (HP:0000705) | 2.28674404 |
| 61 | Abnormality of the hepatic vasculature (HP:0006707) | 2.26392657 |
| 62 | Truncal obesity (HP:0001956) | 2.26090299 |
| 63 | Enlarged epiphyses (HP:0010580) | 2.22595780 |
| 64 | Renal dysplasia (HP:0000110) | 2.21008575 |
| 65 | Abnormality of the ischium (HP:0003174) | 2.20901935 |
| 66 | Reduced antithrombin III activity (HP:0001976) | 2.17605962 |
| 67 | Atonic seizures (HP:0010819) | 2.16973893 |
| 68 | Nephronophthisis (HP:0000090) | 2.15508553 |
| 69 | Sensory axonal neuropathy (HP:0003390) | 2.14229430 |
| 70 | Anterior segment dysgenesis (HP:0007700) | 2.12910334 |
| 71 | Stage 5 chronic kidney disease (HP:0003774) | 2.12648619 |
| 72 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.11728766 |
| 73 | Retinal dysplasia (HP:0007973) | 2.09087316 |
| 74 | Optic nerve hypoplasia (HP:0000609) | 2.08168713 |
| 75 | Flattened epiphyses (HP:0003071) | 2.06948872 |
| 76 | Azoospermia (HP:0000027) | 2.06047353 |
| 77 | Abnormality of renal excretion (HP:0011036) | 2.02657404 |
| 78 | Polyuria (HP:0000103) | 1.99949286 |
| 79 | Retinal atrophy (HP:0001105) | 1.98684867 |
| 80 | Generalized aminoaciduria (HP:0002909) | 1.95093265 |
| 81 | Abnormality of the costochondral junction (HP:0000919) | 1.94579439 |
| 82 | Ventricular fibrillation (HP:0001663) | 1.94407237 |
| 83 | Hyperuricemia (HP:0002149) | 1.93467875 |
| 84 | Increased purine levels (HP:0004368) | 1.93467875 |
| 85 | Thoracolumbar scoliosis (HP:0002944) | 1.93393698 |
| 86 | Recurrent corneal erosions (HP:0000495) | 1.88915413 |
| 87 | Self-mutilation (HP:0000742) | 1.81797465 |
| 88 | Abnormality of potassium homeostasis (HP:0011042) | 1.80369965 |
| 89 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 1.80194850 |
| 90 | Photophobia (HP:0000613) | 1.79546019 |
| 91 | Abnormality of the renal medulla (HP:0100957) | 1.78459625 |
| 92 | Widely patent fontanelles and sutures (HP:0004492) | 1.73429017 |
| 93 | Hypophosphatemic rickets (HP:0004912) | 1.70164521 |
| 94 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.66123953 |
| 95 | Inflammation of the large intestine (HP:0002037) | 1.65269929 |
| 96 | Epiphyseal dysplasia (HP:0002656) | 1.62175180 |
| 97 | Atrial fibrillation (HP:0005110) | 1.62145613 |
| 98 | Intellectual disability, moderate (HP:0002342) | 1.61941506 |
| 99 | Type II diabetes mellitus (HP:0005978) | 1.61668321 |
| 100 | Bradykinesia (HP:0002067) | 1.60784757 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 7.48464852 |
| 2 | PINK1 | 7.44103273 |
| 3 | MARK3 | 3.76995422 |
| 4 | INSRR | 3.35337030 |
| 5 | TESK1 | 3.25933655 |
| 6 | STK38 | 2.90665276 |
| 7 | DDR2 | 2.82786153 |
| 8 | BRD4 | 2.76772527 |
| 9 | PLK2 | 2.65690345 |
| 10 | STK38L | 2.36394877 |
| 11 | ZAK | 2.23346712 |
| 12 | PNCK | 2.19951470 |
| 13 | TLK1 | 2.18911187 |
| 14 | MAPK15 | 2.02709549 |
| 15 | MYLK | 1.86013379 |
| 16 | MST1R | 1.85468470 |
| 17 | LATS1 | 1.85045503 |
| 18 | CAMK1G | 1.83337293 |
| 19 | RPS6KA5 | 1.64715009 |
| 20 | PIK3CG | 1.63703520 |
| 21 | PRKD3 | 1.62705744 |
| 22 | NEK2 | 1.46910542 |
| 23 | MAP4K2 | 1.44514827 |
| 24 | PDPK1 | 1.32753735 |
| 25 | PDK1 | 1.24477126 |
| 26 | PTK2B | 1.10361825 |
| 27 | LATS2 | 1.09892635 |
| 28 | CDK12 | 1.09227077 |
| 29 | TYRO3 | 1.05866438 |
| 30 | CDK3 | 1.04910037 |
| 31 | WNK1 | 0.97025378 |
| 32 | MAP3K9 | 0.96308153 |
| 33 | NEK6 | 0.91489184 |
| 34 | SGK494 | 0.90333420 |
| 35 | SGK223 | 0.90333420 |
| 36 | PRKG2 | 0.90212305 |
| 37 | MAP2K7 | 0.80493236 |
| 38 | TIE1 | 0.72943591 |
| 39 | CDK7 | 0.71875390 |
| 40 | BMPR1B | 0.69084068 |
| 41 | PRKG1 | 0.65663266 |
| 42 | AKT3 | 0.64966575 |
| 43 | CAMK1D | 0.64846567 |
| 44 | DYRK1B | 0.62130262 |
| 45 | ARAF | 0.61983937 |
| 46 | CAMK1 | 0.61914961 |
| 47 | FRK | 0.59307085 |
| 48 | BRAF | 0.57929571 |
| 49 | ROCK1 | 0.56709321 |
| 50 | MAP3K1 | 0.55157431 |
| 51 | KSR2 | 0.53273484 |
| 52 | PRKCQ | 0.51081218 |
| 53 | DYRK3 | 0.50753900 |
| 54 | RPS6KA1 | 0.48238561 |
| 55 | VRK1 | 0.45051385 |
| 56 | SIK2 | 0.43736671 |
| 57 | RPS6KA2 | 0.42447266 |
| 58 | PKN1 | 0.40701347 |
| 59 | OBSCN | 0.38489352 |
| 60 | CDK14 | 0.37694155 |
| 61 | MAPK1 | 0.37500064 |
| 62 | MTOR | 0.33744798 |
| 63 | PAK1 | 0.30185180 |
| 64 | PAK2 | 0.29092468 |
| 65 | GSK3B | 0.28122935 |
| 66 | PRKAA2 | 0.27498158 |
| 67 | FGFR2 | 0.25792375 |
| 68 | CDK1 | 0.23916216 |
| 69 | SGK2 | 0.23753675 |
| 70 | MAP3K13 | 0.23212730 |
| 71 | JAK3 | 0.23013868 |
| 72 | CDK2 | 0.22195674 |
| 73 | MAP3K11 | 0.20653773 |
| 74 | CDK5 | 0.20265030 |
| 75 | MET | 0.20104634 |
| 76 | DYRK2 | 0.19680648 |
| 77 | MAP3K2 | 0.18615288 |
| 78 | MAP3K8 | 0.18432783 |
| 79 | CDC42BPA | 0.18108907 |
| 80 | CAMK4 | 0.17621695 |
| 81 | ADRBK2 | 0.17380258 |
| 82 | STK39 | 0.16555891 |
| 83 | MUSK | 0.15910215 |
| 84 | SGK1 | 0.15419488 |
| 85 | ATM | 0.15215049 |
| 86 | CSNK1A1 | 0.13622409 |
| 87 | PRKCB | 0.13184074 |
| 88 | CSNK1A1L | 0.12918365 |
| 89 | RPS6KA3 | 0.12583595 |
| 90 | RPS6KL1 | 0.12348360 |
| 91 | RPS6KC1 | 0.12348360 |
| 92 | MAPK8 | 0.11863408 |
| 93 | CHEK1 | 0.10857548 |
| 94 | WNK4 | 0.08886227 |
| 95 | CSNK1G3 | 0.08875435 |
| 96 | RPS6KA6 | 0.08455086 |
| 97 | AKT1 | 0.08353956 |
| 98 | MOS | 0.07813374 |
| 99 | ICK | 0.07503185 |
| 100 | MAP2K2 | 0.06939169 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 5.12399780 |
| 2 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 4.52422676 |
| 3 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 4.26922952 |
| 4 | Olfactory transduction_Homo sapiens_hsa04740 | 4.04229661 |
| 5 | Gap junction_Homo sapiens_hsa04540 | 3.41994185 |
| 6 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 2.64019506 |
| 7 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 2.47324040 |
| 8 | Nitrogen metabolism_Homo sapiens_hsa00910 | 2.45634043 |
| 9 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.30656442 |
| 10 | Arginine biosynthesis_Homo sapiens_hsa00220 | 2.25872516 |
| 11 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.98565045 |
| 12 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 1.88211792 |
| 13 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.72041766 |
| 14 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.71734703 |
| 15 | Phagosome_Homo sapiens_hsa04145 | 1.67409018 |
| 16 | Taste transduction_Homo sapiens_hsa04742 | 1.64041539 |
| 17 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.56825250 |
| 18 | Apoptosis_Homo sapiens_hsa04210 | 1.56329688 |
| 19 | Alcoholism_Homo sapiens_hsa05034 | 1.52691398 |
| 20 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.50141721 |
| 21 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.43776306 |
| 22 | RNA transport_Homo sapiens_hsa03013 | 1.39424054 |
| 23 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.20565780 |
| 24 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.13741866 |
| 25 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.12595516 |
| 26 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.07979996 |
| 27 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.06762749 |
| 28 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.99842798 |
| 29 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.94533956 |
| 30 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.92751694 |
| 31 | Renin secretion_Homo sapiens_hsa04924 | 0.90797580 |
| 32 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.90312546 |
| 33 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.89379241 |
| 34 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.88599528 |
| 35 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.85681439 |
| 36 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.79829645 |
| 37 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.77737853 |
| 38 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.76819410 |
| 39 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.74874712 |
| 40 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.73488309 |
| 41 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.72946334 |
| 42 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.71750850 |
| 43 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.70996760 |
| 44 | Phototransduction_Homo sapiens_hsa04744 | 0.70605158 |
| 45 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.70544449 |
| 46 | Salivary secretion_Homo sapiens_hsa04970 | 0.66407694 |
| 47 | Circadian entrainment_Homo sapiens_hsa04713 | 0.65958239 |
| 48 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.65280207 |
| 49 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.64042685 |
| 50 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.62519375 |
| 51 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.61317368 |
| 52 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.60835287 |
| 53 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.58770996 |
| 54 | ABC transporters_Homo sapiens_hsa02010 | 0.58684226 |
| 55 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.58646305 |
| 56 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.58136180 |
| 57 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.57756791 |
| 58 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.57431548 |
| 59 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.57327263 |
| 60 | Purine metabolism_Homo sapiens_hsa00230 | 0.56755122 |
| 61 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.56722207 |
| 62 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.55445175 |
| 63 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.54418535 |
| 64 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.54004086 |
| 65 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.53250397 |
| 66 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.52967666 |
| 67 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.51826618 |
| 68 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.51351346 |
| 69 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.51328975 |
| 70 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.49604699 |
| 71 | Basal transcription factors_Homo sapiens_hsa03022 | 0.49009679 |
| 72 | Nicotine addiction_Homo sapiens_hsa05033 | 0.47578679 |
| 73 | Endocytosis_Homo sapiens_hsa04144 | 0.47460658 |
| 74 | Morphine addiction_Homo sapiens_hsa05032 | 0.46422846 |
| 75 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.45903620 |
| 76 | Influenza A_Homo sapiens_hsa05164 | 0.45238570 |
| 77 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.42421559 |
| 78 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.42222739 |
| 79 | Long-term potentiation_Homo sapiens_hsa04720 | 0.42031316 |
| 80 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.41906365 |
| 81 | Retinol metabolism_Homo sapiens_hsa00830 | 0.41269477 |
| 82 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.39867518 |
| 83 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.38914273 |
| 84 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.38858921 |
| 85 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.38282324 |
| 86 | Allograft rejection_Homo sapiens_hsa05330 | 0.37429882 |
| 87 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.36363726 |
| 88 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.36283732 |
| 89 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.36104520 |
| 90 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.35953750 |
| 91 | Bile secretion_Homo sapiens_hsa04976 | 0.33239937 |
| 92 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.30577379 |
| 93 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.30495094 |
| 94 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.28933034 |
| 95 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.24896804 |
| 96 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.24519145 |
| 97 | Tight junction_Homo sapiens_hsa04530 | 0.24048407 |
| 98 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.23871430 |
| 99 | GABAergic synapse_Homo sapiens_hsa04727 | 0.23833008 |
| 100 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.22884210 |

