

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | chromosome condensation (GO:0030261) | 9.59720787 |
| 2 | DNA packaging (GO:0006323) | 9.36041815 |
| 3 | sperm capacitation (GO:0048240) | 8.76433355 |
| 4 | spermatid nucleus differentiation (GO:0007289) | 8.46424558 |
| 5 | single strand break repair (GO:0000012) | 8.42966785 |
| 6 | spermatid development (GO:0007286) | 8.36410154 |
| 7 | response to pheromone (GO:0019236) | 8.18501010 |
| 8 | microtubule depolymerization (GO:0007019) | 8.02891198 |
| 9 | plasma membrane fusion (GO:0045026) | 7.85691517 |
| 10 | sperm-egg recognition (GO:0035036) | 7.56484825 |
| 11 | protein targeting to Golgi (GO:0000042) | 7.48471526 |
| 12 | binding of sperm to zona pellucida (GO:0007339) | 7.30365987 |
| 13 | protein polyglutamylation (GO:0018095) | 7.28546155 |
| 14 | establishment of protein localization to Golgi (GO:0072600) | 7.16985333 |
| 15 | rRNA methylation (GO:0031167) | 7.03398222 |
| 16 | sexual reproduction (GO:0019953) | 7.01674763 |
| 17 | microtubule polymerization or depolymerization (GO:0031109) | 6.96366978 |
| 18 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 6.94908528 |
| 19 | multicellular organism reproduction (GO:0032504) | 6.87729562 |
| 20 | axonemal dynein complex assembly (GO:0070286) | 6.83685390 |
| 21 | reproduction (GO:0000003) | 6.67502785 |
| 22 | spermatogenesis (GO:0007283) | 6.40877824 |
| 23 | male gamete generation (GO:0048232) | 6.38879877 |
| 24 | calcium ion-dependent exocytosis (GO:0017156) | 6.37730078 |
| 25 | negative regulation of inclusion body assembly (GO:0090084) | 6.35427417 |
| 26 | cell-cell recognition (GO:0009988) | 6.21904151 |
| 27 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.18040822 |
| 28 | centriole replication (GO:0007099) | 6.14372775 |
| 29 | rRNA modification (GO:0000154) | 5.90805720 |
| 30 | gamete generation (GO:0007276) | 5.88191812 |
| 31 | motile cilium assembly (GO:0044458) | 5.87733697 |
| 32 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.70325334 |
| 33 | centriole assembly (GO:0098534) | 5.48776503 |
| 34 | protein localization to Golgi apparatus (GO:0034067) | 5.40787323 |
| 35 | microtubule severing (GO:0051013) | 5.33107807 |
| 36 | regulation of cilium movement (GO:0003352) | 5.22130492 |
| 37 | single fertilization (GO:0007338) | 5.21773983 |
| 38 | regulation of centriole replication (GO:0046599) | 5.19580919 |
| 39 | seminiferous tubule development (GO:0072520) | 5.17201482 |
| 40 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.13839621 |
| 41 | positive regulation of Rab GTPase activity (GO:0032851) | 4.92569495 |
| 42 | regulation of Rab GTPase activity (GO:0032313) | 4.92569495 |
| 43 | germ cell development (GO:0007281) | 4.89314425 |
| 44 | cellular ketone body metabolic process (GO:0046950) | 4.88524481 |
| 45 | epithelial cilium movement (GO:0003351) | 4.83798918 |
| 46 | chromatin silencing (GO:0006342) | 4.79015873 |
| 47 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 4.74423633 |
| 48 | multicellular organismal reproductive process (GO:0048609) | 4.69976289 |
| 49 | RNA destabilization (GO:0050779) | 4.68914056 |
| 50 | fertilization (GO:0009566) | 4.65550001 |
| 51 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.61325522 |
| 52 | regulation of inclusion body assembly (GO:0090083) | 4.49452976 |
| 53 | nucleus organization (GO:0006997) | 4.38514157 |
| 54 | ketone body metabolic process (GO:1902224) | 4.30333177 |
| 55 | cell wall macromolecule catabolic process (GO:0016998) | 4.17708546 |
| 56 | cilium movement (GO:0003341) | 4.15094200 |
| 57 | cell wall macromolecule metabolic process (GO:0044036) | 4.07853219 |
| 58 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.02127318 |
| 59 | male meiosis I (GO:0007141) | 3.94293945 |
| 60 | glomerular visceral epithelial cell development (GO:0072015) | 3.91559105 |
| 61 | male meiosis (GO:0007140) | 3.88787956 |
| 62 | nucleosome disassembly (GO:0006337) | 3.83848504 |
| 63 | protein-DNA complex disassembly (GO:0032986) | 3.83848504 |
| 64 | piRNA metabolic process (GO:0034587) | 3.82225389 |
| 65 | glycerol ether metabolic process (GO:0006662) | 3.74383562 |
| 66 | glomerular epithelial cell development (GO:0072310) | 3.72357860 |
| 67 | microtubule nucleation (GO:0007020) | 3.67259835 |
| 68 | coenzyme catabolic process (GO:0009109) | 3.61010710 |
| 69 | multicellular organismal movement (GO:0050879) | 3.54529375 |
| 70 | musculoskeletal movement (GO:0050881) | 3.54529375 |
| 71 | histone H3-K9 demethylation (GO:0033169) | 3.50397678 |
| 72 | organic cation transport (GO:0015695) | 3.50051137 |
| 73 | ether metabolic process (GO:0018904) | 3.45186079 |
| 74 | polyamine biosynthetic process (GO:0006596) | 3.39799240 |
| 75 | regulation of microtubule-based movement (GO:0060632) | 3.36851090 |
| 76 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.30294924 |
| 77 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.28197006 |
| 78 | DNA methylation involved in gamete generation (GO:0043046) | 3.27951383 |
| 79 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.26498224 |
| 80 | response to acidic pH (GO:0010447) | 3.16099124 |
| 81 | cerebral cortex neuron differentiation (GO:0021895) | 3.13314919 |
| 82 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 3.12529033 |
| 83 | DNA conformation change (GO:0071103) | 3.07732271 |
| 84 | multicellular organismal development (GO:0007275) | 3.05211404 |
| 85 | regulation of interleukin-13 production (GO:0032656) | 3.03677486 |
| 86 | protein depolymerization (GO:0051261) | 3.02224243 |
| 87 | nuclear pore complex assembly (GO:0051292) | 3.02051553 |
| 88 | cell recognition (GO:0008037) | 3.01968841 |
| 89 | synaptonemal complex assembly (GO:0007130) | 3.00945393 |
| 90 | chromosome organization involved in meiosis (GO:0070192) | 2.99800925 |
| 91 | histone exchange (GO:0043486) | 2.99683570 |
| 92 | homeostasis of number of cells within a tissue (GO:0048873) | 2.98500592 |
| 93 | receptor recycling (GO:0001881) | 2.97301597 |
| 94 | meiosis I (GO:0007127) | 2.97065513 |
| 95 | ventricular system development (GO:0021591) | 2.96552119 |
| 96 | cellular response to pH (GO:0071467) | 2.96306210 |
| 97 | synapsis (GO:0007129) | 2.95835082 |
| 98 | sperm motility (GO:0030317) | 12.1310698 |
| 99 | acrosome reaction (GO:0007340) | 11.9056300 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.3161176 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.70052982 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 4.36079046 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.55026389 |
| 4 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.53026804 |
| 5 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.53026804 |
| 6 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.32471760 |
| 7 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.30862819 |
| 8 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.30347755 |
| 9 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.30347755 |
| 10 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.26573517 |
| 11 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.21434695 |
| 12 | FUS_26573619_Chip-Seq_HEK293_Human | 2.19588458 |
| 13 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.16033804 |
| 14 | ERA_21632823_ChIP-Seq_H3396_Human | 2.11035869 |
| 15 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.95456754 |
| 16 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.94247694 |
| 17 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.90587268 |
| 18 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.88891177 |
| 19 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.85746003 |
| 20 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.81165038 |
| 21 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.79659859 |
| 22 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.78009061 |
| 23 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.71407408 |
| 24 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.70596484 |
| 25 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.69625599 |
| 26 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.67293440 |
| 27 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.66749286 |
| 28 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.65278672 |
| 29 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.59842182 |
| 30 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.59497787 |
| 31 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.58145527 |
| 32 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.55320306 |
| 33 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.55238391 |
| 34 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.52244063 |
| 35 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.50728760 |
| 36 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.50153153 |
| 37 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.49693449 |
| 38 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.49592261 |
| 39 | P68_20966046_ChIP-Seq_HELA_Human | 1.47866528 |
| 40 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.47235907 |
| 41 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.47080142 |
| 42 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.46266098 |
| 43 | AR_25329375_ChIP-Seq_VCAP_Human | 1.45635191 |
| 44 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.45109018 |
| 45 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.44267939 |
| 46 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.44059866 |
| 47 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.43801996 |
| 48 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.43422700 |
| 49 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.41756379 |
| 50 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.41721303 |
| 51 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.39305131 |
| 52 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.38353734 |
| 53 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.37266403 |
| 54 | P300_19829295_ChIP-Seq_ESCs_Human | 1.34514363 |
| 55 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.32932047 |
| 56 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.32732836 |
| 57 | TBL1_22424771_ChIP-Seq_293T_Human | 1.31411310 |
| 58 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.30931947 |
| 59 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.30768845 |
| 60 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.28624916 |
| 61 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.28541361 |
| 62 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.28346688 |
| 63 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.28338836 |
| 64 | NFYB_21822215_ChIP-Seq_K562_Human | 1.28018251 |
| 65 | P300_27268052_Chip-Seq_Bcells_Human | 1.26678892 |
| 66 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.26493130 |
| 67 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.26195063 |
| 68 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.25423314 |
| 69 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.23117235 |
| 70 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.22030935 |
| 71 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.21898348 |
| 72 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.20407303 |
| 73 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.19636863 |
| 74 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.19611631 |
| 75 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.15883182 |
| 76 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.14813508 |
| 77 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.13648338 |
| 78 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.13550771 |
| 79 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.12774224 |
| 80 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.12724263 |
| 81 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.12637367 |
| 82 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.11920841 |
| 83 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.09561511 |
| 84 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.09522952 |
| 85 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.07954517 |
| 86 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.07925386 |
| 87 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.07238456 |
| 88 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.07224248 |
| 89 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.06336919 |
| 90 | NFYA_21822215_ChIP-Seq_K562_Human | 1.06323831 |
| 91 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.06089562 |
| 92 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.05879275 |
| 93 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.04455124 |
| 94 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.04455124 |
| 95 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.04436465 |
| 96 | SA1_27219007_Chip-Seq_Bcells_Human | 1.03482877 |
| 97 | STAT3_23295773_ChIP-Seq_U87_Human | 1.03477575 |
| 98 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.02798584 |
| 99 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.02374859 |
| 100 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.01977962 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003878_abnormal_ear_physiology | 5.14141298 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 5.14141298 |
| 3 | MP0003698_abnormal_male_reproductive | 4.70723607 |
| 4 | MP0005670_abnormal_white_adipose | 4.28973296 |
| 5 | MP0001929_abnormal_gametogenesis | 4.20576243 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.78598234 |
| 7 | MP0002161_abnormal_fertility/fecundity | 2.60995455 |
| 8 | MP0000678_abnormal_parathyroid_gland | 2.34792610 |
| 9 | MP0003718_maternal_effect | 2.15257604 |
| 10 | MP0002210_abnormal_sex_determination | 2.14271874 |
| 11 | MP0002132_abnormal_respiratory_system | 2.11144170 |
| 12 | MP0003646_muscle_fatigue | 2.06822284 |
| 13 | MP0005379_endocrine/exocrine_gland_phen | 2.00549940 |
| 14 | MP0005410_abnormal_fertilization | 12.2939110 |
| 15 | MP0003011_delayed_dark_adaptation | 1.95285870 |
| 16 | MP0001485_abnormal_pinna_reflex | 1.79646664 |
| 17 | MP0008877_abnormal_DNA_methylation | 1.75909783 |
| 18 | MP0001145_abnormal_male_reproductive | 1.73158251 |
| 19 | MP0005423_abnormal_somatic_nervous | 1.62451475 |
| 20 | MP0000653_abnormal_sex_gland | 1.60555178 |
| 21 | MP0001486_abnormal_startle_reflex | 1.56141705 |
| 22 | MP0002282_abnormal_trachea_morphology | 1.48325611 |
| 23 | MP0002249_abnormal_larynx_morphology | 1.39129548 |
| 24 | MP0004742_abnormal_vestibular_system | 1.38198447 |
| 25 | MP0005451_abnormal_body_composition | 1.33644323 |
| 26 | MP0003879_abnormal_hair_cell | 1.33454867 |
| 27 | MP0005310_abnormal_salivary_gland | 1.33122241 |
| 28 | MP0009053_abnormal_anal_canal | 1.20588438 |
| 29 | MP0002234_abnormal_pharynx_morphology | 1.18652808 |
| 30 | MP0002735_abnormal_chemical_nociception | 1.15244725 |
| 31 | MP0001963_abnormal_hearing_physiology | 1.14856211 |
| 32 | MP0002138_abnormal_hepatobiliary_system | 1.08715514 |
| 33 | MP0004859_abnormal_synaptic_plasticity | 1.06055130 |
| 34 | MP0001765_abnormal_ion_homeostasis | 1.05316171 |
| 35 | MP0002127_abnormal_cardiovascular_syste | 1.02884633 |
| 36 | MP0001968_abnormal_touch/_nociception | 1.02406237 |
| 37 | MP0004510_myositis | 0.99710897 |
| 38 | MP0005248_abnormal_Harderian_gland | 0.99047748 |
| 39 | MP0005395_other_phenotype | 0.96803425 |
| 40 | MP0000534_abnormal_ureter_morphology | 0.96529158 |
| 41 | MP0000026_abnormal_inner_ear | 0.96421815 |
| 42 | MP0001984_abnormal_olfaction | 0.89046587 |
| 43 | MP0002822_catalepsy | 0.87078773 |
| 44 | MP0009115_abnormal_fat_cell | 0.82305505 |
| 45 | MP0005551_abnormal_eye_electrophysiolog | 0.82261558 |
| 46 | MP0005253_abnormal_eye_physiology | 0.82107810 |
| 47 | MP0002229_neurodegeneration | 0.79793539 |
| 48 | MP0000955_abnormal_spinal_cord | 0.77568711 |
| 49 | MP0005666_abnormal_adipose_tissue | 0.75074685 |
| 50 | MP0000681_abnormal_thyroid_gland | 0.75044975 |
| 51 | MP0000049_abnormal_middle_ear | 0.74395234 |
| 52 | MP0008995_early_reproductive_senescence | 0.73978299 |
| 53 | MP0002067_abnormal_sensory_capabilities | 0.72449621 |
| 54 | MP0005167_abnormal_blood-brain_barrier | 0.70856391 |
| 55 | MP0004085_abnormal_heartbeat | 0.68461435 |
| 56 | MP0002733_abnormal_thermal_nociception | 0.66619702 |
| 57 | MP0002557_abnormal_social/conspecific_i | 0.64643846 |
| 58 | MP0009697_abnormal_copulation | 0.63324766 |
| 59 | MP0004233_abnormal_muscle_weight | 0.61069106 |
| 60 | MP0001879_abnormal_lymphatic_vessel | 0.60086751 |
| 61 | MP0002572_abnormal_emotion/affect_behav | 0.57147045 |
| 62 | MP0001905_abnormal_dopamine_level | 0.55950273 |
| 63 | MP0008569_lethality_at_weaning | 0.54498755 |
| 64 | MP0003077_abnormal_cell_cycle | 0.54409881 |
| 65 | MP0004036_abnormal_muscle_relaxation | 0.54061246 |
| 66 | MP0005083_abnormal_biliary_tract | 0.53354959 |
| 67 | MP0005636_abnormal_mineral_homeostasis | 0.53257132 |
| 68 | MP0005375_adipose_tissue_phenotype | 0.52039637 |
| 69 | MP0003699_abnormal_female_reproductive | 0.51323595 |
| 70 | MP0009745_abnormal_behavioral_response | 0.50634322 |
| 71 | MP0005535_abnormal_body_temperature | 0.49391979 |
| 72 | MP0008789_abnormal_olfactory_epithelium | 0.49378980 |
| 73 | MP0005367_renal/urinary_system_phenotyp | 0.48576069 |
| 74 | MP0000516_abnormal_urinary_system | 0.48576069 |
| 75 | MP0002653_abnormal_ependyma_morphology | 0.48180389 |
| 76 | MP0006292_abnormal_olfactory_placode | 0.47717005 |
| 77 | MP0002272_abnormal_nervous_system | 0.47713495 |
| 78 | MP0001666_abnormal_nutrient_absorption | 0.47603421 |
| 79 | MP0001970_abnormal_pain_threshold | 0.47204732 |
| 80 | MP0005394_taste/olfaction_phenotype | 0.46206474 |
| 81 | MP0005499_abnormal_olfactory_system | 0.46206474 |
| 82 | MP0002160_abnormal_reproductive_system | 0.45762248 |
| 83 | MP0008004_abnormal_stomach_pH | 0.44390719 |
| 84 | MP0000230_abnormal_systemic_arterial | 0.42295995 |
| 85 | MP0005391_vision/eye_phenotype | 0.41261907 |
| 86 | MP0005623_abnormal_meninges_morphology | 0.39298578 |
| 87 | MP0001501_abnormal_sleep_pattern | 0.38812584 |
| 88 | MP0005084_abnormal_gallbladder_morpholo | 0.38778995 |
| 89 | MP0003936_abnormal_reproductive_system | 0.38367984 |
| 90 | MP0003880_abnormal_central_pattern | 0.37661425 |
| 91 | MP0004484_altered_response_of | 0.37616600 |
| 92 | MP0004782_abnormal_surfactant_physiolog | 0.37516279 |
| 93 | MP0001119_abnormal_female_reproductive | 0.37343575 |
| 94 | MP0004084_abnormal_cardiac_muscle | 0.37253495 |
| 95 | MP0002734_abnormal_mechanical_nocicepti | 0.36511918 |
| 96 | MP0003137_abnormal_impulse_conducting | 0.36238594 |
| 97 | MP0005647_abnormal_sex_gland | 0.35732955 |
| 98 | MP0010368_abnormal_lymphatic_system | 0.35259788 |
| 99 | MP0000470_abnormal_stomach_morphology | 0.34645059 |
| 100 | MP0003635_abnormal_synaptic_transmissio | 0.34338871 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 7.72156523 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 6.95315703 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.95315703 |
| 4 | Tubulointerstitial nephritis (HP:0001970) | 5.76113417 |
| 5 | Abnormal respiratory motile cilium physiology (HP:0012261) | 5.40557907 |
| 6 | Abnormal ciliary motility (HP:0012262) | 5.39232984 |
| 7 | Asymmetric septal hypertrophy (HP:0001670) | 5.27909644 |
| 8 | Chronic hepatic failure (HP:0100626) | 5.09510898 |
| 9 | Abnormal respiratory epithelium morphology (HP:0012253) | 5.00199999 |
| 10 | Abnormal respiratory motile cilium morphology (HP:0005938) | 5.00199999 |
| 11 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.97433106 |
| 12 | Resting tremor (HP:0002322) | 4.88678421 |
| 13 | Nasal polyposis (HP:0100582) | 4.80789076 |
| 14 | Attenuation of retinal blood vessels (HP:0007843) | 4.65616153 |
| 15 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.65494186 |
| 16 | Infertility (HP:0000789) | 4.54816001 |
| 17 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.15693662 |
| 18 | Male infertility (HP:0003251) | 4.08174842 |
| 19 | Hyperkalemia (HP:0002153) | 4.05188285 |
| 20 | Abnormality of macular pigmentation (HP:0008002) | 4.03836344 |
| 21 | Cone-rod dystrophy (HP:0000548) | 4.02590498 |
| 22 | Abnormality of the nasal mucosa (HP:0000433) | 3.90923075 |
| 23 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.61457364 |
| 24 | Abnormal spermatogenesis (HP:0008669) | 3.52510680 |
| 25 | Facial shape deformation (HP:0011334) | 3.48720821 |
| 26 | Potter facies (HP:0002009) | 3.48720821 |
| 27 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.48555084 |
| 28 | Bell-shaped thorax (HP:0001591) | 3.46426669 |
| 29 | Azoospermia (HP:0000027) | 3.44364196 |
| 30 | Impulsivity (HP:0100710) | 3.34295569 |
| 31 | Rhinitis (HP:0012384) | 3.21424880 |
| 32 | Postural instability (HP:0002172) | 3.21293194 |
| 33 | Progressive sensorineural hearing impairment (HP:0000408) | 3.19557957 |
| 34 | Hypoplasia of the thymus (HP:0000778) | 3.11558303 |
| 35 | Nephronophthisis (HP:0000090) | 3.03414155 |
| 36 | Abnormality of dental color (HP:0011073) | 3.00099917 |
| 37 | Hypoalphalipoproteinemia (HP:0003233) | 2.97311465 |
| 38 | Stage 5 chronic kidney disease (HP:0003774) | 2.94335998 |
| 39 | Enlarged epiphyses (HP:0010580) | 2.89641570 |
| 40 | Hypoplastic ischia (HP:0003175) | 2.89150822 |
| 41 | Progressive cerebellar ataxia (HP:0002073) | 2.87526844 |
| 42 | Amelogenesis imperfecta (HP:0000705) | 2.81112246 |
| 43 | Menstrual irregularities (HP:0000858) | 2.79776141 |
| 44 | Tubulointerstitial abnormality (HP:0001969) | 2.76417237 |
| 45 | Truncal obesity (HP:0001956) | 2.68767281 |
| 46 | Abnormal urine output (HP:0012590) | 2.68023848 |
| 47 | Chronic bronchitis (HP:0004469) | 2.59800734 |
| 48 | Abnormality of the ischium (HP:0003174) | 2.57695465 |
| 49 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.50360308 |
| 50 | Abnormality of the renal medulla (HP:0100957) | 2.50160520 |
| 51 | Renovascular hypertension (HP:0100817) | 2.50022492 |
| 52 | Bronchiectasis (HP:0002110) | 2.45912634 |
| 53 | Polydipsia (HP:0001959) | 2.44169400 |
| 54 | Abnormal drinking behavior (HP:0030082) | 2.44169400 |
| 55 | Portal hypertension (HP:0001409) | 2.43519989 |
| 56 | Generalized aminoaciduria (HP:0002909) | 2.41704655 |
| 57 | Unilateral renal agenesis (HP:0000122) | 2.36911568 |
| 58 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.33894157 |
| 59 | Renal dysplasia (HP:0000110) | 2.31116909 |
| 60 | Abnormality of the aortic arch (HP:0012303) | 2.30214633 |
| 61 | Abnormality of renal excretion (HP:0011036) | 2.30180838 |
| 62 | Abnormality of potassium homeostasis (HP:0011042) | 2.26702042 |
| 63 | Osteomalacia (HP:0002749) | 2.26232539 |
| 64 | Abnormality of the hepatic vasculature (HP:0006707) | 2.24405665 |
| 65 | Abnormality of the costochondral junction (HP:0000919) | 2.23415364 |
| 66 | Polyuria (HP:0000103) | 2.19336297 |
| 67 | Congenital malformation of the right heart (HP:0011723) | 2.18656498 |
| 68 | Double outlet right ventricle (HP:0001719) | 2.18656498 |
| 69 | Flattened epiphyses (HP:0003071) | 2.15932036 |
| 70 | Hyperuricemia (HP:0002149) | 2.15639177 |
| 71 | Increased purine levels (HP:0004368) | 2.15639177 |
| 72 | Focal segmental glomerulosclerosis (HP:0000097) | 2.11936568 |
| 73 | Intellectual disability, moderate (HP:0002342) | 2.11348259 |
| 74 | Hypophosphatemic rickets (HP:0004912) | 2.03979594 |
| 75 | Progressive hearing impairment (HP:0001730) | 1.97718399 |
| 76 | Optic nerve hypoplasia (HP:0000609) | 1.91422400 |
| 77 | Decreased central vision (HP:0007663) | 1.90821551 |
| 78 | Tubular atrophy (HP:0000092) | 1.90484834 |
| 79 | Ventricular tachycardia (HP:0004756) | 1.89306946 |
| 80 | Widely patent fontanelles and sutures (HP:0004492) | 1.86725861 |
| 81 | Occipital encephalocele (HP:0002085) | 1.84429257 |
| 82 | Hyponatremia (HP:0002902) | 1.80074726 |
| 83 | Atelectasis (HP:0100750) | 1.76520101 |
| 84 | Horizontal nystagmus (HP:0000666) | 1.76018904 |
| 85 | Sensory axonal neuropathy (HP:0003390) | 1.75047272 |
| 86 | Myokymia (HP:0002411) | 1.74533120 |
| 87 | Recurrent corneal erosions (HP:0000495) | 1.74339759 |
| 88 | Photophobia (HP:0000613) | 1.72512289 |
| 89 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.72294824 |
| 90 | Upper limb muscle weakness (HP:0003484) | 1.69838389 |
| 91 | Abnormality of the parathyroid morphology (HP:0011766) | 1.69704546 |
| 92 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 1.68658251 |
| 93 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.68225668 |
| 94 | Absent epiphyses (HP:0010577) | 1.68225668 |
| 95 | Glomerulosclerosis (HP:0000096) | 1.67999461 |
| 96 | Pendular nystagmus (HP:0012043) | 1.67132118 |
| 97 | Flat capital femoral epiphysis (HP:0003370) | 1.65289601 |
| 98 | Renal Fanconi syndrome (HP:0001994) | 1.64100920 |
| 99 | Recurrent pneumonia (HP:0006532) | 1.61580355 |
| 100 | Hypoalbuminemia (HP:0003073) | 1.60692114 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 9.30548233 |
| 2 | TESK1 | 5.09671220 |
| 3 | INSRR | 3.95586926 |
| 4 | BRD4 | 3.58821170 |
| 5 | PLK2 | 3.57460266 |
| 6 | DDR2 | 3.56425995 |
| 7 | MAP4K2 | 3.34353726 |
| 8 | PNCK | 3.25020975 |
| 9 | STK38 | 3.06964328 |
| 10 | CAMK1G | 2.38496906 |
| 11 | STK38L | 2.30988494 |
| 12 | PRKD3 | 2.18145756 |
| 13 | MAPK15 | 2.05407220 |
| 14 | PIK3CG | 2.02435515 |
| 15 | PDPK1 | 1.63302912 |
| 16 | MST1R | 1.62924728 |
| 17 | WNK1 | 1.59617733 |
| 18 | PDK1 | 1.58393239 |
| 19 | NEK6 | 1.42513862 |
| 20 | PTK2B | 1.34157379 |
| 21 | CDK12 | 1.27318501 |
| 22 | PINK1 | 1.25319006 |
| 23 | DYRK1B | 1.24301257 |
| 24 | MAP3K9 | 1.19652351 |
| 25 | TYRO3 | 1.16683316 |
| 26 | CDK7 | 1.11320933 |
| 27 | KSR2 | 0.90573072 |
| 28 | LATS2 | 0.87689015 |
| 29 | AKT3 | 0.82691649 |
| 30 | MAP3K11 | 0.78392652 |
| 31 | CAMK1D | 0.78141389 |
| 32 | BRAF | 0.78009571 |
| 33 | PRKG2 | 0.71863290 |
| 34 | SIK2 | 0.71796403 |
| 35 | PRKG1 | 0.65227507 |
| 36 | CDK3 | 0.64635119 |
| 37 | TIE1 | 0.62154022 |
| 38 | MAP2K2 | 0.59277842 |
| 39 | PRKAA2 | 0.59197428 |
| 40 | CAMK1 | 0.58336460 |
| 41 | RPS6KA1 | 0.57309221 |
| 42 | UHMK1 | 0.56597915 |
| 43 | BMPR1B | 0.54403149 |
| 44 | SGK223 | 0.52929689 |
| 45 | SGK494 | 0.52929689 |
| 46 | RPS6KA2 | 0.51328397 |
| 47 | LATS1 | 0.50585428 |
| 48 | MAP3K2 | 0.46717079 |
| 49 | MARK1 | 0.44329182 |
| 50 | CDK1 | 0.43243014 |
| 51 | ROCK1 | 0.43057742 |
| 52 | GSK3B | 0.42907199 |
| 53 | BRSK1 | 0.42795705 |
| 54 | CDK2 | 0.42447157 |
| 55 | NEK2 | 0.42221086 |
| 56 | MAP3K8 | 0.41831789 |
| 57 | MAPK1 | 0.41242445 |
| 58 | MARK3 | 0.38947316 |
| 59 | WNK4 | 0.38392120 |
| 60 | CHEK1 | 0.34610945 |
| 61 | STK39 | 0.33761266 |
| 62 | MUSK | 0.32997906 |
| 63 | MTOR | 0.32849123 |
| 64 | MAP3K1 | 0.32269723 |
| 65 | MET | 0.32079273 |
| 66 | ARAF | 0.31542051 |
| 67 | SGK1 | 0.30674794 |
| 68 | PRKCZ | 0.30404140 |
| 69 | CAMK4 | 0.29280421 |
| 70 | PRKCG | 0.28873785 |
| 71 | BRSK2 | 0.28351316 |
| 72 | MAPK8 | 0.26580334 |
| 73 | OXSR1 | 0.26503325 |
| 74 | MAP3K4 | 0.26303795 |
| 75 | CDK19 | 0.25722070 |
| 76 | DYRK3 | 0.24840438 |
| 77 | CDK4 | 0.23711407 |
| 78 | NTRK3 | 0.23667726 |
| 79 | RPS6KL1 | 0.22784231 |
| 80 | RPS6KC1 | 0.22784231 |
| 81 | MAP2K7 | 0.22048483 |
| 82 | MAPK14 | 0.21711107 |
| 83 | RPS6KA6 | 0.21663073 |
| 84 | PKN1 | 0.20221617 |
| 85 | TLK1 | 0.19914131 |
| 86 | PRKCB | 0.19054241 |
| 87 | BLK | 0.18966948 |
| 88 | AKT1 | 0.17124707 |
| 89 | PLK1 | 0.16655341 |
| 90 | MAPK10 | 0.16453849 |
| 91 | SGK2 | 0.15732228 |
| 92 | TESK2 | 0.14879496 |
| 93 | PRKACB | 0.13551393 |
| 94 | MAPK11 | 0.13169972 |
| 95 | ZAK | 0.12988516 |
| 96 | MARK2 | 0.12110125 |
| 97 | FRK | 0.08798359 |
| 98 | AURKA | 0.08532519 |
| 99 | PRKACA | 0.08249335 |
| 100 | PRKAA1 | 0.07885605 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 7.77088339 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 5.90998556 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 4.09204901 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.81231739 |
| 5 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.00616769 |
| 6 | RNA transport_Homo sapiens_hsa03013 | 1.90440394 |
| 7 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.85229573 |
| 8 | Taste transduction_Homo sapiens_hsa04742 | 1.79608738 |
| 9 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.78847630 |
| 10 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.71897334 |
| 11 | Allograft rejection_Homo sapiens_hsa05330 | 1.66503883 |
| 12 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.62651519 |
| 13 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.59499742 |
| 14 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.59352698 |
| 15 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.57374363 |
| 16 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.54571395 |
| 17 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.52142127 |
| 18 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.48722135 |
| 19 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.41211822 |
| 20 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.39025845 |
| 21 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.34244069 |
| 22 | Viral myocarditis_Homo sapiens_hsa05416 | 1.20247124 |
| 23 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.20238015 |
| 24 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.15099262 |
| 25 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.10019627 |
| 26 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.08804753 |
| 27 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.04467498 |
| 28 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.04271560 |
| 29 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.03654792 |
| 30 | Phototransduction_Homo sapiens_hsa04744 | 1.01895445 |
| 31 | Endocytosis_Homo sapiens_hsa04144 | 0.98962730 |
| 32 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.98122625 |
| 33 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.97221223 |
| 34 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.91473968 |
| 35 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.91238446 |
| 36 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.91003716 |
| 37 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.89434352 |
| 38 | Nicotine addiction_Homo sapiens_hsa05033 | 0.88310746 |
| 39 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.87993738 |
| 40 | Salivary secretion_Homo sapiens_hsa04970 | 0.86969675 |
| 41 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.86360664 |
| 42 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.86150122 |
| 43 | ABC transporters_Homo sapiens_hsa02010 | 0.78955408 |
| 44 | Influenza A_Homo sapiens_hsa05164 | 0.76140963 |
| 45 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.75191860 |
| 46 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.74794054 |
| 47 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.74110022 |
| 48 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.73710338 |
| 49 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.72957087 |
| 50 | Morphine addiction_Homo sapiens_hsa05032 | 0.72919973 |
| 51 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.71207004 |
| 52 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.69172246 |
| 53 | Retinol metabolism_Homo sapiens_hsa00830 | 0.67190443 |
| 54 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.66612575 |
| 55 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.66283037 |
| 56 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.63643140 |
| 57 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.63229894 |
| 58 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.61343051 |
| 59 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.60277576 |
| 60 | Circadian entrainment_Homo sapiens_hsa04713 | 0.59952015 |
| 61 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.57209651 |
| 62 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.56207579 |
| 63 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.56120601 |
| 64 | Basal transcription factors_Homo sapiens_hsa03022 | 0.54836496 |
| 65 | Renin secretion_Homo sapiens_hsa04924 | 0.53829030 |
| 66 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.51804450 |
| 67 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.50603662 |
| 68 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.50401380 |
| 69 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.50213358 |
| 70 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.48058172 |
| 71 | Gap junction_Homo sapiens_hsa04540 | 0.47788816 |
| 72 | Purine metabolism_Homo sapiens_hsa00230 | 0.45087645 |
| 73 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.44270343 |
| 74 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.43626856 |
| 75 | Insulin secretion_Homo sapiens_hsa04911 | 0.42683591 |
| 76 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.41581630 |
| 77 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.41523232 |
| 78 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.38821762 |
| 79 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.37146026 |
| 80 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.36241181 |
| 81 | Bile secretion_Homo sapiens_hsa04976 | 0.34879888 |
| 82 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.33906973 |
| 83 | Huntingtons disease_Homo sapiens_hsa05016 | 0.31972116 |
| 84 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.31814914 |
| 85 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.31547424 |
| 86 | Long-term potentiation_Homo sapiens_hsa04720 | 0.31546281 |
| 87 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.30088922 |
| 88 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.29825810 |
| 89 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.28333684 |
| 90 | Tight junction_Homo sapiens_hsa04530 | 0.26952006 |
| 91 | GABAergic synapse_Homo sapiens_hsa04727 | 0.25323698 |
| 92 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.23421872 |
| 93 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.23136177 |
| 94 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.22425197 |
| 95 | Legionellosis_Homo sapiens_hsa05134 | 0.22075774 |
| 96 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.20730573 |
| 97 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.19785928 |
| 98 | Alcoholism_Homo sapiens_hsa05034 | 0.18074063 |
| 99 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.18021880 |
| 100 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.16945696 |

