

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | chromosome condensation (GO:0030261) | 9.27929529 |
| 2 | DNA packaging (GO:0006323) | 8.91045798 |
| 3 | sperm capacitation (GO:0048240) | 8.69379690 |
| 4 | protein targeting to Golgi (GO:0000042) | 8.13776070 |
| 5 | microtubule depolymerization (GO:0007019) | 8.04426799 |
| 6 | plasma membrane fusion (GO:0045026) | 7.83408039 |
| 7 | establishment of protein localization to Golgi (GO:0072600) | 7.76886471 |
| 8 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 7.61275846 |
| 9 | spermatid nucleus differentiation (GO:0007289) | 7.48292266 |
| 10 | spermatid development (GO:0007286) | 7.47659627 |
| 11 | single strand break repair (GO:0000012) | 7.40758992 |
| 12 | protein polyglutamylation (GO:0018095) | 7.19497577 |
| 13 | microtubule polymerization or depolymerization (GO:0031109) | 7.05900671 |
| 14 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.90830743 |
| 15 | rRNA methylation (GO:0031167) | 6.86528807 |
| 16 | sperm-egg recognition (GO:0035036) | 6.74751175 |
| 17 | response to pheromone (GO:0019236) | 6.59347740 |
| 18 | centriole replication (GO:0007099) | 6.41702531 |
| 19 | phosphatidylethanolamine metabolic process (GO:0046337) | 6.38085515 |
| 20 | multicellular organism reproduction (GO:0032504) | 6.33317904 |
| 21 | spermatogenesis (GO:0007283) | 6.15011214 |
| 22 | male gamete generation (GO:0048232) | 6.12923324 |
| 23 | sexual reproduction (GO:0019953) | 6.08672270 |
| 24 | binding of sperm to zona pellucida (GO:0007339) | 6.07012207 |
| 25 | reproduction (GO:0000003) | 6.04320996 |
| 26 | negative regulation of inclusion body assembly (GO:0090084) | 6.02988155 |
| 27 | calcium ion-dependent exocytosis (GO:0017156) | 5.96429375 |
| 28 | protein localization to Golgi apparatus (GO:0034067) | 5.71964658 |
| 29 | centriole assembly (GO:0098534) | 5.71633141 |
| 30 | rRNA modification (GO:0000154) | 5.63244812 |
| 31 | gamete generation (GO:0007276) | 5.61484577 |
| 32 | axonemal dynein complex assembly (GO:0070286) | 5.59043873 |
| 33 | microtubule severing (GO:0051013) | 5.58419805 |
| 34 | cell-cell recognition (GO:0009988) | 5.55223597 |
| 35 | regulation of centriole replication (GO:0046599) | 5.36510966 |
| 36 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 5.33635684 |
| 37 | seminiferous tubule development (GO:0072520) | 5.26538363 |
| 38 | RNA destabilization (GO:0050779) | 5.23171000 |
| 39 | positive regulation of Rab GTPase activity (GO:0032851) | 4.97402690 |
| 40 | regulation of Rab GTPase activity (GO:0032313) | 4.97402690 |
| 41 | motile cilium assembly (GO:0044458) | 4.79343950 |
| 42 | single fertilization (GO:0007338) | 4.75288570 |
| 43 | regulation of cilium movement (GO:0003352) | 4.62604589 |
| 44 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.60751716 |
| 45 | cell wall macromolecule catabolic process (GO:0016998) | 4.60392091 |
| 46 | multicellular organismal reproductive process (GO:0048609) | 4.49597513 |
| 47 | cell wall macromolecule metabolic process (GO:0044036) | 4.36198144 |
| 48 | regulation of inclusion body assembly (GO:0090083) | 4.30470233 |
| 49 | germ cell development (GO:0007281) | 4.28528965 |
| 50 | chromatin silencing (GO:0006342) | 4.28087228 |
| 51 | nucleus organization (GO:0006997) | 4.22062989 |
| 52 | fertilization (GO:0009566) | 4.16626245 |
| 53 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.14620746 |
| 54 | microtubule nucleation (GO:0007020) | 4.12581105 |
| 55 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.01920575 |
| 56 | glomerular visceral epithelial cell development (GO:0072015) | 4.00113962 |
| 57 | musculoskeletal movement (GO:0050881) | 3.93438913 |
| 58 | multicellular organismal movement (GO:0050879) | 3.93438913 |
| 59 | cellular ketone body metabolic process (GO:0046950) | 3.93362133 |
| 60 | nuclear pore complex assembly (GO:0051292) | 3.88716169 |
| 61 | epithelial cilium movement (GO:0003351) | 3.80586653 |
| 62 | glomerular epithelial cell development (GO:0072310) | 3.75630867 |
| 63 | regulation of T-helper 2 cell differentiation (GO:0045628) | 3.71413681 |
| 64 | glycerol ether metabolic process (GO:0006662) | 3.58532145 |
| 65 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.55454024 |
| 66 | ketone body metabolic process (GO:1902224) | 3.43688526 |
| 67 | organic cation transport (GO:0015695) | 3.42199676 |
| 68 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.34135494 |
| 69 | histone H3-K9 demethylation (GO:0033169) | 3.31582723 |
| 70 | cilium movement (GO:0003341) | 3.30231507 |
| 71 | ether metabolic process (GO:0018904) | 3.28809187 |
| 72 | homeostasis of number of cells within a tissue (GO:0048873) | 3.24432364 |
| 73 | protein-DNA complex disassembly (GO:0032986) | 3.16739346 |
| 74 | nucleosome disassembly (GO:0006337) | 3.16739346 |
| 75 | protein depolymerization (GO:0051261) | 3.15569562 |
| 76 | intra-Golgi vesicle-mediated transport (GO:0006891) | 3.13968063 |
| 77 | Golgi to endosome transport (GO:0006895) | 3.08844084 |
| 78 | regulation of ARF GTPase activity (GO:0032312) | 3.06350296 |
| 79 | regulation of interleukin-13 production (GO:0032656) | 3.05964480 |
| 80 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.04902256 |
| 81 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.02353194 |
| 82 | regulation of microtubule-based movement (GO:0060632) | 3.01720980 |
| 83 | response to acidic pH (GO:0010447) | 3.01172854 |
| 84 | cerebral cortex neuron differentiation (GO:0021895) | 2.98843061 |
| 85 | polyamine biosynthetic process (GO:0006596) | 2.98197821 |
| 86 | ventricular system development (GO:0021591) | 2.97154029 |
| 87 | peptidyl-threonine dephosphorylation (GO:0035970) | 2.94723258 |
| 88 | cellular response to pH (GO:0071467) | 2.94173279 |
| 89 | pore complex assembly (GO:0046931) | 2.90841759 |
| 90 | DNA conformation change (GO:0071103) | 2.90813098 |
| 91 | multicellular organismal development (GO:0007275) | 2.89076005 |
| 92 | nuclear pore organization (GO:0006999) | 2.84420562 |
| 93 | negative regulation of histone methylation (GO:0031061) | 2.82490904 |
| 94 | RNA localization (GO:0006403) | 2.81469722 |
| 95 | actin filament capping (GO:0051693) | 2.79677246 |
| 96 | receptor recycling (GO:0001881) | 2.71979926 |
| 97 | centrosome duplication (GO:0051298) | 2.67678505 |
| 98 | sperm motility (GO:0030317) | 11.4873095 |
| 99 | acrosome reaction (GO:0007340) | 10.8222443 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.4301564 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 5.59196596 |
| 2 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 3.58767861 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.55419026 |
| 4 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.35644575 |
| 5 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.35644575 |
| 6 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.31602500 |
| 7 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.27909373 |
| 8 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 2.20926363 |
| 9 | GATA1_19941826_ChIP-Seq_K562_Human | 2.08141721 |
| 10 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.98659910 |
| 11 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.97367602 |
| 12 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.97367602 |
| 13 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.85328747 |
| 14 | ERA_21632823_ChIP-Seq_H3396_Human | 1.84058494 |
| 15 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.82757436 |
| 16 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.81899419 |
| 17 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.75838572 |
| 18 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.75697404 |
| 19 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.74967293 |
| 20 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.73745044 |
| 21 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.72801260 |
| 22 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.72466819 |
| 23 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.68331502 |
| 24 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.67402442 |
| 25 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.66408905 |
| 26 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.64239422 |
| 27 | P68_20966046_ChIP-Seq_HELA_Human | 1.63090885 |
| 28 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.59744071 |
| 29 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.58875361 |
| 30 | FUS_26573619_Chip-Seq_HEK293_Human | 1.58389219 |
| 31 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.57027699 |
| 32 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.56084108 |
| 33 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.56002159 |
| 34 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.52749954 |
| 35 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.52054652 |
| 36 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.51367559 |
| 37 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.50680479 |
| 38 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.48931965 |
| 39 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.48351916 |
| 40 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.46193533 |
| 41 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.45495850 |
| 42 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.45315332 |
| 43 | GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.43529012 |
| 44 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.43372223 |
| 45 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.43266665 |
| 46 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.42856126 |
| 47 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.42471530 |
| 48 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.42306066 |
| 49 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.42082539 |
| 50 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.41559840 |
| 51 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.40840247 |
| 52 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.38559856 |
| 53 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.37909384 |
| 54 | P300_27268052_Chip-Seq_Bcells_Human | 1.37662795 |
| 55 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.34790471 |
| 56 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.34454532 |
| 57 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.34155456 |
| 58 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.32914492 |
| 59 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.32556668 |
| 60 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.32533523 |
| 61 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.31858613 |
| 62 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.28402001 |
| 63 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.26069219 |
| 64 | SA1_27219007_Chip-Seq_Bcells_Human | 1.25765182 |
| 65 | SPI1_23127762_ChIP-Seq_K562_Human | 1.23282339 |
| 66 | NFYB_21822215_ChIP-Seq_K562_Human | 1.23227874 |
| 67 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.23109700 |
| 68 | GATA2_19941826_ChIP-Seq_K562_Human | 1.22201015 |
| 69 | VDR_24787735_ChIP-Seq_THP-1_Human | 1.18901741 |
| 70 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.18533618 |
| 71 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.18347313 |
| 72 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.17788817 |
| 73 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.17585790 |
| 74 | TBL1_22424771_ChIP-Seq_293T_Human | 1.17327975 |
| 75 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 1.16619429 |
| 76 | SPI1_20517297_ChIP-Seq_HL60_Human | 1.14671611 |
| 77 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.14149071 |
| 78 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.13647026 |
| 79 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.12457367 |
| 80 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.10929936 |
| 81 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.09820572 |
| 82 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 1.06548894 |
| 83 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.05641951 |
| 84 | AR_25329375_ChIP-Seq_VCAP_Human | 1.05607697 |
| 85 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.04746673 |
| 86 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.04586558 |
| 87 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.04539017 |
| 88 | OCT4_19829295_ChIP-Seq_ESCs_Human | 1.02837198 |
| 89 | KLF4_19829295_ChIP-Seq_ESCs_Human | 1.02440864 |
| 90 | NFYA_21822215_ChIP-Seq_K562_Human | 1.02217467 |
| 91 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.01895601 |
| 92 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.00881948 |
| 93 | SALL4_22934838_ChIP-ChIP_CD34+_Human | 1.00114938 |
| 94 | P53_21459846_ChIP-Seq_SAOS-2_Human | 0.98682062 |
| 95 | KLF5_25053715_ChIP-Seq_YYC3_Human | 0.98347483 |
| 96 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 0.98125863 |
| 97 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.98045638 |
| 98 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 0.97119826 |
| 99 | GF1_26923725_Chip-Seq_HPCs_Mouse | 0.94313519 |
| 100 | NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human | 0.93777527 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003878_abnormal_ear_physiology | 6.04271632 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 6.04271632 |
| 3 | MP0005670_abnormal_white_adipose | 4.21978782 |
| 4 | MP0003698_abnormal_male_reproductive | 4.16066702 |
| 5 | MP0001929_abnormal_gametogenesis | 3.67217329 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.31991243 |
| 7 | MP0005451_abnormal_body_composition | 2.88307378 |
| 8 | MP0002132_abnormal_respiratory_system | 2.41146334 |
| 9 | MP0002161_abnormal_fertility/fecundity | 2.28859386 |
| 10 | MP0005083_abnormal_biliary_tract | 2.08042555 |
| 11 | MP0003646_muscle_fatigue | 2.06647599 |
| 12 | MP0005310_abnormal_salivary_gland | 2.06535360 |
| 13 | MP0000678_abnormal_parathyroid_gland | 2.03482135 |
| 14 | MP0005410_abnormal_fertilization | 11.3370459 |
| 15 | MP0003879_abnormal_hair_cell | 1.73468018 |
| 16 | MP0003011_delayed_dark_adaptation | 1.70052658 |
| 17 | MP0003718_maternal_effect | 1.69971931 |
| 18 | MP0001485_abnormal_pinna_reflex | 1.62488932 |
| 19 | MP0002210_abnormal_sex_determination | 1.58299151 |
| 20 | MP0005379_endocrine/exocrine_gland_phen | 1.54271749 |
| 21 | MP0003656_abnormal_erythrocyte_physiolo | 1.52670131 |
| 22 | MP0004510_myositis | 1.42205111 |
| 23 | MP0001545_abnormal_hematopoietic_system | 1.42095783 |
| 24 | MP0005397_hematopoietic_system_phenotyp | 1.42095783 |
| 25 | MP0001486_abnormal_startle_reflex | 1.40679010 |
| 26 | MP0004742_abnormal_vestibular_system | 1.31134737 |
| 27 | MP0001145_abnormal_male_reproductive | 1.28809131 |
| 28 | MP0005423_abnormal_somatic_nervous | 1.22795566 |
| 29 | MP0000653_abnormal_sex_gland | 1.20350724 |
| 30 | MP0002138_abnormal_hepatobiliary_system | 1.18201415 |
| 31 | MP0009278_abnormal_bone_marrow | 1.11950503 |
| 32 | MP0009115_abnormal_fat_cell | 1.11856834 |
| 33 | MP0004859_abnormal_synaptic_plasticity | 1.11363932 |
| 34 | MP0002282_abnormal_trachea_morphology | 1.07745795 |
| 35 | MP0001765_abnormal_ion_homeostasis | 1.06194183 |
| 36 | MP0002249_abnormal_larynx_morphology | 1.04002021 |
| 37 | MP0005666_abnormal_adipose_tissue | 0.97998472 |
| 38 | MP0001963_abnormal_hearing_physiology | 0.97895871 |
| 39 | MP0002822_catalepsy | 0.94843739 |
| 40 | MP0005248_abnormal_Harderian_gland | 0.91921050 |
| 41 | MP0003436_decreased_susceptibility_to | 0.91515163 |
| 42 | MP0005636_abnormal_mineral_homeostasis | 0.89371850 |
| 43 | MP0008995_early_reproductive_senescence | 0.88876624 |
| 44 | MP0003172_abnormal_lysosome_physiology | 0.88650001 |
| 45 | MP0009764_decreased_sensitivity_to | 0.85952379 |
| 46 | MP0002127_abnormal_cardiovascular_syste | 0.85710013 |
| 47 | MP0009053_abnormal_anal_canal | 0.83622967 |
| 48 | MP0002229_neurodegeneration | 0.83192985 |
| 49 | MP0001835_abnormal_antigen_presentation | 0.80039310 |
| 50 | MP0009697_abnormal_copulation | 0.79678834 |
| 51 | MP0005167_abnormal_blood-brain_barrier | 0.77737244 |
| 52 | MP0005395_other_phenotype | 0.76611665 |
| 53 | MP0004147_increased_porphyrin_level | 0.76033075 |
| 54 | MP0002419_abnormal_innate_immunity | 0.74254512 |
| 55 | MP0003303_peritoneal_inflammation | 0.70665807 |
| 56 | MP0009785_altered_susceptibility_to | 0.70189188 |
| 57 | MP0002735_abnormal_chemical_nociception | 0.68993731 |
| 58 | MP0005025_abnormal_response_to | 0.67807096 |
| 59 | MP0003724_increased_susceptibility_to | 0.66275652 |
| 60 | MP0000534_abnormal_ureter_morphology | 0.64525108 |
| 61 | MP0004233_abnormal_muscle_weight | 0.64525042 |
| 62 | MP0000026_abnormal_inner_ear | 0.64492184 |
| 63 | MP0005375_adipose_tissue_phenotype | 0.62679080 |
| 64 | MP0008569_lethality_at_weaning | 0.62382117 |
| 65 | MP0000955_abnormal_spinal_cord | 0.62213958 |
| 66 | MP0002067_abnormal_sensory_capabilities | 0.59320559 |
| 67 | MP0000681_abnormal_thyroid_gland | 0.58951225 |
| 68 | MP0001968_abnormal_touch/_nociception | 0.58253820 |
| 69 | MP0008877_abnormal_DNA_methylation | 0.57871867 |
| 70 | MP0005535_abnormal_body_temperature | 0.56676460 |
| 71 | MP0005253_abnormal_eye_physiology | 0.56660132 |
| 72 | MP0002653_abnormal_ependyma_morphology | 0.54742485 |
| 73 | MP0002234_abnormal_pharynx_morphology | 0.54629720 |
| 74 | MP0003077_abnormal_cell_cycle | 0.53897083 |
| 75 | MP0001533_abnormal_skeleton_physiology | 0.53382087 |
| 76 | MP0005551_abnormal_eye_electrophysiolog | 0.51950571 |
| 77 | MP0002723_abnormal_immune_serum | 0.50390781 |
| 78 | MP0010307_abnormal_tumor_latency | 0.46968521 |
| 79 | MP0002733_abnormal_thermal_nociception | 0.44028955 |
| 80 | MP0004085_abnormal_heartbeat | 0.43202662 |
| 81 | MP0003828_pulmonary_edema | 0.42943943 |
| 82 | MP0000249_abnormal_blood_vessel | 0.42096612 |
| 83 | MP0003329_amyloid_beta_deposits | 0.41364908 |
| 84 | MP0002928_abnormal_bile_duct | 0.41074273 |
| 85 | MP0003631_nervous_system_phenotype | 0.40857539 |
| 86 | MP0002398_abnormal_bone_marrow | 0.40289366 |
| 87 | MP0008874_decreased_physiological_sensi | 0.40151459 |
| 88 | MP0004484_altered_response_of | 0.39789639 |
| 89 | MP0005000_abnormal_immune_tolerance | 0.39716543 |
| 90 | MP0002722_abnormal_immune_system | 0.39627957 |
| 91 | MP0001873_stomach_inflammation | 0.38543271 |
| 92 | MP0001905_abnormal_dopamine_level | 0.38471229 |
| 93 | MP0000685_abnormal_immune_system | 0.38405184 |
| 94 | MP0009765_abnormal_xenobiotic_induced | 0.37986590 |
| 95 | MP0001800_abnormal_humoral_immune | 0.37522418 |
| 96 | MP0008469_abnormal_protein_level | 0.36290581 |
| 97 | MP0000703_abnormal_thymus_morphology | 0.35894617 |
| 98 | MP0002452_abnormal_antigen_presenting | 0.35714617 |
| 99 | MP0002405_respiratory_system_inflammati | 0.35462659 |
| 100 | MP0004036_abnormal_muscle_relaxation | 0.35228524 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 7.60757106 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 5.86773600 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.86773600 |
| 4 | Asymmetric septal hypertrophy (HP:0001670) | 5.84394026 |
| 5 | Tubulointerstitial nephritis (HP:0001970) | 5.75024532 |
| 6 | Chronic hepatic failure (HP:0100626) | 5.27102411 |
| 7 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 5.21145409 |
| 8 | Nasal polyposis (HP:0100582) | 4.90072201 |
| 9 | Resting tremor (HP:0002322) | 4.54953681 |
| 10 | Male infertility (HP:0003251) | 4.41381870 |
| 11 | Cone-rod dystrophy (HP:0000548) | 4.38333038 |
| 12 | Hyperkalemia (HP:0002153) | 4.33393504 |
| 13 | Attenuation of retinal blood vessels (HP:0007843) | 4.23419301 |
| 14 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.20614657 |
| 15 | Abnormal ciliary motility (HP:0012262) | 4.17436035 |
| 16 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 4.12952181 |
| 17 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.10889625 |
| 18 | Abnormality of the nasal mucosa (HP:0000433) | 4.01272427 |
| 19 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.81735883 |
| 20 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.81735883 |
| 21 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.81632500 |
| 22 | Abnormality of macular pigmentation (HP:0008002) | 3.77259521 |
| 23 | Infertility (HP:0000789) | 3.73144574 |
| 24 | Hypoalphalipoproteinemia (HP:0003233) | 3.53409882 |
| 25 | Menstrual irregularities (HP:0000858) | 3.50793094 |
| 26 | Postural instability (HP:0002172) | 3.47581770 |
| 27 | Hypoplasia of the thymus (HP:0000778) | 3.44542951 |
| 28 | Hypochromic microcytic anemia (HP:0004840) | 3.40572545 |
| 29 | Bell-shaped thorax (HP:0001591) | 3.35104329 |
| 30 | Impulsivity (HP:0100710) | 3.33822772 |
| 31 | Progressive sensorineural hearing impairment (HP:0000408) | 3.29946545 |
| 32 | Abnormality of dental color (HP:0011073) | 3.28365451 |
| 33 | Amelogenesis imperfecta (HP:0000705) | 3.21504794 |
| 34 | Truncal obesity (HP:0001956) | 3.12717427 |
| 35 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.10421709 |
| 36 | Potter facies (HP:0002009) | 3.09392248 |
| 37 | Facial shape deformation (HP:0011334) | 3.09392248 |
| 38 | Osteomalacia (HP:0002749) | 3.01787676 |
| 39 | Enlarged epiphyses (HP:0010580) | 2.92014586 |
| 40 | Poikilocytosis (HP:0004447) | 2.86796112 |
| 41 | Abnormality of the heme biosynthetic pathway (HP:0010472) | 2.81744780 |
| 42 | Portal hypertension (HP:0001409) | 2.79479043 |
| 43 | Renovascular hypertension (HP:0100817) | 2.76736635 |
| 44 | Abnormal spermatogenesis (HP:0008669) | 2.74259572 |
| 45 | Progressive cerebellar ataxia (HP:0002073) | 2.69145260 |
| 46 | Hypoplastic ischia (HP:0003175) | 2.68802134 |
| 47 | Gastrointestinal infarctions (HP:0005244) | 2.67334904 |
| 48 | Gingivitis (HP:0000230) | 2.66168548 |
| 49 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.65977616 |
| 50 | Abnormality of the hepatic vasculature (HP:0006707) | 2.56867683 |
| 51 | Abnormality of the costochondral junction (HP:0000919) | 2.55656315 |
| 52 | Tubulointerstitial abnormality (HP:0001969) | 2.53444151 |
| 53 | Stage 5 chronic kidney disease (HP:0003774) | 2.52627498 |
| 54 | Abnormality of the ischium (HP:0003174) | 2.42288850 |
| 55 | Recurrent pneumonia (HP:0006532) | 2.36845021 |
| 56 | Subcapsular cataract (HP:0000523) | 2.35593127 |
| 57 | Abnormal urine output (HP:0012590) | 2.29533904 |
| 58 | Azoospermia (HP:0000027) | 2.29192670 |
| 59 | Reticulocytosis (HP:0001923) | 2.29170570 |
| 60 | Abnormality of potassium homeostasis (HP:0011042) | 2.26245288 |
| 61 | Abnormality of the aortic arch (HP:0012303) | 2.23682981 |
| 62 | Rhinitis (HP:0012384) | 2.22650708 |
| 63 | Progressive hearing impairment (HP:0001730) | 2.22361652 |
| 64 | Ventricular tachycardia (HP:0004756) | 2.21331188 |
| 65 | Increased purine levels (HP:0004368) | 2.14623084 |
| 66 | Hyperuricemia (HP:0002149) | 2.14623084 |
| 67 | Generalized aminoaciduria (HP:0002909) | 2.14594919 |
| 68 | Hyponatremia (HP:0002902) | 2.14406469 |
| 69 | Nephronophthisis (HP:0000090) | 2.12441264 |
| 70 | Hypochromic anemia (HP:0001931) | 2.12338392 |
| 71 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.03919997 |
| 72 | Focal segmental glomerulosclerosis (HP:0000097) | 2.03368685 |
| 73 | Polydipsia (HP:0001959) | 2.03310925 |
| 74 | Abnormal drinking behavior (HP:0030082) | 2.03310925 |
| 75 | Intellectual disability, moderate (HP:0002342) | 1.99188455 |
| 76 | Peritonitis (HP:0002586) | 1.97632494 |
| 77 | Unilateral renal agenesis (HP:0000122) | 1.96341827 |
| 78 | Widely patent fontanelles and sutures (HP:0004492) | 1.96018167 |
| 79 | Abnormality of renal excretion (HP:0011036) | 1.95149159 |
| 80 | Hypoparathyroidism (HP:0000829) | 1.91326846 |
| 81 | Double outlet right ventricle (HP:0001719) | 1.85507558 |
| 82 | Congenital malformation of the right heart (HP:0011723) | 1.85507558 |
| 83 | Peripheral hypomyelination (HP:0007182) | 1.85474369 |
| 84 | Sandal gap (HP:0001852) | 1.84371545 |
| 85 | Bronchiectasis (HP:0002110) | 1.82747715 |
| 86 | Chronic bronchitis (HP:0004469) | 1.82659453 |
| 87 | Flattened epiphyses (HP:0003071) | 1.81894997 |
| 88 | Abnormality of the renal medulla (HP:0100957) | 1.80019680 |
| 89 | Polyuria (HP:0000103) | 1.79147600 |
| 90 | Polycythemia (HP:0001901) | 1.78857676 |
| 91 | Hypertriglyceridemia (HP:0002155) | 1.76854094 |
| 92 | Cholelithiasis (HP:0001081) | 1.76837491 |
| 93 | Hypophosphatemic rickets (HP:0004912) | 1.76511543 |
| 94 | Aplasia/Hypoplasia of the thymus (HP:0010515) | 1.76257626 |
| 95 | Bowel incontinence (HP:0002607) | 1.75889212 |
| 96 | Chronic obstructive pulmonary disease (HP:0006510) | 1.72523021 |
| 97 | Obstructive lung disease (HP:0006536) | 1.72523021 |
| 98 | Tetany (HP:0001281) | 1.71915291 |
| 99 | Abnormality of the parathyroid morphology (HP:0011766) | 1.70797083 |
| 100 | Hypolipoproteinemia (HP:0010981) | 1.67380509 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 9.37710811 |
| 2 | TESK1 | 4.49959436 |
| 3 | BRD4 | 4.11068690 |
| 4 | INSRR | 4.07290870 |
| 5 | DDR2 | 3.36085500 |
| 6 | PLK2 | 3.33238317 |
| 7 | STK38 | 2.84723046 |
| 8 | PNCK | 2.69220862 |
| 9 | CAMK1G | 2.56494894 |
| 10 | MAP4K2 | 2.25662500 |
| 11 | PIK3CG | 2.25352350 |
| 12 | PRKD3 | 1.98994780 |
| 13 | RIPK4 | 1.84810006 |
| 14 | WNK1 | 1.81473518 |
| 15 | CDK12 | 1.77571742 |
| 16 | PDPK1 | 1.70760746 |
| 17 | PDK1 | 1.69567014 |
| 18 | STK38L | 1.59983837 |
| 19 | KSR2 | 1.55470462 |
| 20 | MAP3K11 | 1.51504003 |
| 21 | MAPK15 | 1.51455833 |
| 22 | DYRK1B | 1.48516735 |
| 23 | PTK2B | 1.40141889 |
| 24 | NEK6 | 1.36796004 |
| 25 | TYRO3 | 1.30141872 |
| 26 | CAMK1D | 1.22113782 |
| 27 | SIK2 | 1.08524457 |
| 28 | CDK7 | 1.06855896 |
| 29 | BLK | 0.96964945 |
| 30 | MST1R | 0.89773906 |
| 31 | MAP3K1 | 0.83120485 |
| 32 | BRAF | 0.82073913 |
| 33 | MAP3K2 | 0.81054044 |
| 34 | PRKG2 | 0.80693364 |
| 35 | AKT3 | 0.76083898 |
| 36 | MAP3K8 | 0.74181758 |
| 37 | JAK3 | 0.71698384 |
| 38 | PRKAA2 | 0.67629832 |
| 39 | RPS6KA2 | 0.65334505 |
| 40 | MAP2K2 | 0.63140591 |
| 41 | MARK2 | 0.57153021 |
| 42 | RPS6KA1 | 0.56761519 |
| 43 | GRK6 | 0.55046665 |
| 44 | CAMK1 | 0.53894301 |
| 45 | TNK2 | 0.52930586 |
| 46 | RPS6KC1 | 0.51246170 |
| 47 | RPS6KL1 | 0.51246170 |
| 48 | SGK223 | 0.50663292 |
| 49 | SGK494 | 0.50663292 |
| 50 | PRKG1 | 0.49735436 |
| 51 | JAK2 | 0.48869811 |
| 52 | MAP2K3 | 0.48081841 |
| 53 | UHMK1 | 0.44430229 |
| 54 | RPS6KA6 | 0.43214072 |
| 55 | DYRK3 | 0.42672131 |
| 56 | CAMK4 | 0.42109054 |
| 57 | SGK1 | 0.41703226 |
| 58 | MAPK1 | 0.41647629 |
| 59 | TESK2 | 0.40127212 |
| 60 | CDK2 | 0.39298187 |
| 61 | MAP3K9 | 0.39159203 |
| 62 | MAP3K3 | 0.38604186 |
| 63 | TAOK1 | 0.38430981 |
| 64 | SGK2 | 0.37925096 |
| 65 | PRKCZ | 0.37145207 |
| 66 | NTRK3 | 0.36844786 |
| 67 | GSK3B | 0.36058520 |
| 68 | CDK3 | 0.35233098 |
| 69 | CDK1 | 0.34820659 |
| 70 | IRAK4 | 0.33657517 |
| 71 | SGK3 | 0.33107468 |
| 72 | SYK | 0.33085585 |
| 73 | MTOR | 0.32095805 |
| 74 | CSK | 0.32076390 |
| 75 | MAPK8 | 0.30554969 |
| 76 | ROCK1 | 0.29882773 |
| 77 | MAP4K1 | 0.29824433 |
| 78 | BRSK1 | 0.28780288 |
| 79 | CDK4 | 0.27932846 |
| 80 | MAP3K7 | 0.25878592 |
| 81 | TIE1 | 0.24931768 |
| 82 | AKT1 | 0.22141471 |
| 83 | HCK | 0.21964204 |
| 84 | MAPK10 | 0.20503101 |
| 85 | LATS2 | 0.19277940 |
| 86 | MAP2K1 | 0.18418961 |
| 87 | ERN1 | 0.18031464 |
| 88 | PRKCB | 0.17942531 |
| 89 | CHEK1 | 0.17585829 |
| 90 | MAPK14 | 0.17286305 |
| 91 | MARK3 | 0.17238625 |
| 92 | ICK | 0.16350661 |
| 93 | ZAP70 | 0.15877896 |
| 94 | MAPK11 | 0.14798125 |
| 95 | IKBKB | 0.13437699 |
| 96 | BRSK2 | 0.10630802 |
| 97 | MAP3K13 | 0.10373331 |
| 98 | LYN | 0.10353331 |
| 99 | KIT | 0.09210033 |
| 100 | BTK | 0.08755401 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 6.25212034 |
| 2 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 4.99279569 |
| 3 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 3.73522892 |
| 4 | Olfactory transduction_Homo sapiens_hsa04740 | 3.39201662 |
| 5 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.17425306 |
| 6 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.85012091 |
| 7 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.82569933 |
| 8 | Allograft rejection_Homo sapiens_hsa05330 | 1.73975166 |
| 9 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.68098976 |
| 10 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.65739836 |
| 11 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.65649096 |
| 12 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.63263172 |
| 13 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.62847868 |
| 14 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.61895275 |
| 15 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.57213680 |
| 16 | Influenza A_Homo sapiens_hsa05164 | 1.46515734 |
| 17 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 1.41889616 |
| 18 | RNA transport_Homo sapiens_hsa03013 | 1.36528261 |
| 19 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.29498498 |
| 20 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.29391896 |
| 21 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.27639648 |
| 22 | Endocytosis_Homo sapiens_hsa04144 | 1.26013005 |
| 23 | Viral myocarditis_Homo sapiens_hsa05416 | 1.22745744 |
| 24 | Taste transduction_Homo sapiens_hsa04742 | 1.22156283 |
| 25 | VEGF signaling pathway_Homo sapiens_hsa04370 | 1.15014275 |
| 26 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 1.14865258 |
| 27 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 1.12604196 |
| 28 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.12529808 |
| 29 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.11001813 |
| 30 | Osteoclast differentiation_Homo sapiens_hsa04380 | 1.07985519 |
| 31 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.03121789 |
| 32 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 1.00223791 |
| 33 | Leishmaniasis_Homo sapiens_hsa05140 | 0.98536191 |
| 34 | Malaria_Homo sapiens_hsa05144 | 0.96891877 |
| 35 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.96758434 |
| 36 | ABC transporters_Homo sapiens_hsa02010 | 0.95366552 |
| 37 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.95120982 |
| 38 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.95104905 |
| 39 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.93654648 |
| 40 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.91701747 |
| 41 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.91210098 |
| 42 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.87496275 |
| 43 | Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650 | 0.86047145 |
| 44 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.83688568 |
| 45 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.79426909 |
| 46 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.78976028 |
| 47 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.78587052 |
| 48 | Chemokine signaling pathway_Homo sapiens_hsa04062 | 0.72022250 |
| 49 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.71550987 |
| 50 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.70479862 |
| 51 | Measles_Homo sapiens_hsa05162 | 0.70427420 |
| 52 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.69651213 |
| 53 | Legionellosis_Homo sapiens_hsa05134 | 0.67795369 |
| 54 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.67318917 |
| 55 | Morphine addiction_Homo sapiens_hsa05032 | 0.66803201 |
| 56 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.66122000 |
| 57 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.65711957 |
| 58 | Long-term potentiation_Homo sapiens_hsa04720 | 0.65687452 |
| 59 | African trypanosomiasis_Homo sapiens_hsa05143 | 0.64247997 |
| 60 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.62607219 |
| 61 | Fc epsilon RI signaling pathway_Homo sapiens_hsa04664 | 0.62297967 |
| 62 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.61317155 |
| 63 | Tuberculosis_Homo sapiens_hsa05152 | 0.60550019 |
| 64 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.59326893 |
| 65 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.58708575 |
| 66 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.58393049 |
| 67 | Salivary secretion_Homo sapiens_hsa04970 | 0.56807910 |
| 68 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.55960039 |
| 69 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.54600308 |
| 70 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.53748681 |
| 71 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.53136148 |
| 72 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 0.52964081 |
| 73 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 0.52325004 |
| 74 | T cell receptor signaling pathway_Homo sapiens_hsa04660 | 0.51139743 |
| 75 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.48359924 |
| 76 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 0.47515954 |
| 77 | Toll-like receptor signaling pathway_Homo sapiens_hsa04620 | 0.46932786 |
| 78 | Phototransduction_Homo sapiens_hsa04744 | 0.43280713 |
| 79 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.42594334 |
| 80 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.41500261 |
| 81 | Circadian entrainment_Homo sapiens_hsa04713 | 0.40036864 |
| 82 | Hepatitis B_Homo sapiens_hsa05161 | 0.38057223 |
| 83 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.36759181 |
| 84 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.35407850 |
| 85 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.35232059 |
| 86 | FoxO signaling pathway_Homo sapiens_hsa04068 | 0.34053791 |
| 87 | Prostate cancer_Homo sapiens_hsa05215 | 0.33870608 |
| 88 | Phagosome_Homo sapiens_hsa04145 | 0.33709740 |
| 89 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.32780324 |
| 90 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.32458487 |
| 91 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.31819899 |
| 92 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.31711394 |
| 93 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 0.30235576 |
| 94 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.29541607 |
| 95 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.28937863 |
| 96 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.28843802 |
| 97 | Renin secretion_Homo sapiens_hsa04924 | 0.28443385 |
| 98 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.28419552 |
| 99 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.28313650 |
| 100 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.28259123 |

