

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm capacitation (GO:0048240) | 9.68652349 |
| 2 | chromosome condensation (GO:0030261) | 9.32233352 |
| 3 | DNA packaging (GO:0006323) | 9.11863448 |
| 4 | spermatid development (GO:0007286) | 8.68435684 |
| 5 | single strand break repair (GO:0000012) | 8.31558061 |
| 6 | spermatid nucleus differentiation (GO:0007289) | 8.23245733 |
| 7 | microtubule depolymerization (GO:0007019) | 8.13999940 |
| 8 | plasma membrane fusion (GO:0045026) | 8.08986752 |
| 9 | response to pheromone (GO:0019236) | 7.72743356 |
| 10 | rRNA methylation (GO:0031167) | 7.60605333 |
| 11 | sperm-egg recognition (GO:0035036) | 7.48498533 |
| 12 | protein polyglutamylation (GO:0018095) | 7.45957175 |
| 13 | multicellular organism reproduction (GO:0032504) | 7.24071301 |
| 14 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 7.11408441 |
| 15 | protein targeting to Golgi (GO:0000042) | 7.05431536 |
| 16 | negative regulation of inclusion body assembly (GO:0090084) | 6.95667914 |
| 17 | reproduction (GO:0000003) | 6.88946719 |
| 18 | sexual reproduction (GO:0019953) | 6.87013450 |
| 19 | binding of sperm to zona pellucida (GO:0007339) | 6.79991378 |
| 20 | establishment of protein localization to Golgi (GO:0072600) | 6.76314167 |
| 21 | microtubule polymerization or depolymerization (GO:0031109) | 6.73626808 |
| 22 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 6.58756888 |
| 23 | phosphatidylethanolamine metabolic process (GO:0046337) | 6.58615443 |
| 24 | calcium ion-dependent exocytosis (GO:0017156) | 6.55342258 |
| 25 | rRNA modification (GO:0000154) | 6.41449583 |
| 26 | microtubule severing (GO:0051013) | 6.35509590 |
| 27 | axonemal dynein complex assembly (GO:0070286) | 6.33545356 |
| 28 | spermatogenesis (GO:0007283) | 6.23097540 |
| 29 | male gamete generation (GO:0048232) | 6.20958050 |
| 30 | cell-cell recognition (GO:0009988) | 6.16263001 |
| 31 | gamete generation (GO:0007276) | 5.69316512 |
| 32 | regulation of cilium movement (GO:0003352) | 5.63730326 |
| 33 | centriole replication (GO:0007099) | 5.52840128 |
| 34 | cellular ketone body metabolic process (GO:0046950) | 5.44980734 |
| 35 | single fertilization (GO:0007338) | 5.10685283 |
| 36 | RNA destabilization (GO:0050779) | 5.05954199 |
| 37 | protein localization to Golgi apparatus (GO:0034067) | 5.05174768 |
| 38 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.00452995 |
| 39 | motile cilium assembly (GO:0044458) | 4.98405460 |
| 40 | regulation of inclusion body assembly (GO:0090083) | 4.97733110 |
| 41 | centriole assembly (GO:0098534) | 4.97502602 |
| 42 | regulation of Rab GTPase activity (GO:0032313) | 4.91374884 |
| 43 | positive regulation of Rab GTPase activity (GO:0032851) | 4.91374884 |
| 44 | germ cell development (GO:0007281) | 4.86904277 |
| 45 | cell wall macromolecule catabolic process (GO:0016998) | 4.85711707 |
| 46 | ketone body metabolic process (GO:1902224) | 4.80654173 |
| 47 | cell wall macromolecule metabolic process (GO:0044036) | 4.60140875 |
| 48 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.59466834 |
| 49 | multicellular organismal reproductive process (GO:0048609) | 4.58800667 |
| 50 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.51246411 |
| 51 | regulation of centriole replication (GO:0046599) | 4.51084436 |
| 52 | nucleus organization (GO:0006997) | 4.38530282 |
| 53 | chromatin silencing (GO:0006342) | 4.37741807 |
| 54 | epithelial cilium movement (GO:0003351) | 4.34547439 |
| 55 | fertilization (GO:0009566) | 4.27979385 |
| 56 | seminiferous tubule development (GO:0072520) | 4.12701428 |
| 57 | regulation of microtubule-based movement (GO:0060632) | 4.01279184 |
| 58 | organic cation transport (GO:0015695) | 3.99618184 |
| 59 | musculoskeletal movement (GO:0050881) | 3.85695704 |
| 60 | multicellular organismal movement (GO:0050879) | 3.85695704 |
| 61 | polyamine biosynthetic process (GO:0006596) | 3.78981418 |
| 62 | cilium movement (GO:0003341) | 3.78769734 |
| 63 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 3.71595408 |
| 64 | nucleosome disassembly (GO:0006337) | 3.65883173 |
| 65 | protein-DNA complex disassembly (GO:0032986) | 3.65883173 |
| 66 | response to acidic pH (GO:0010447) | 3.62345524 |
| 67 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.51103580 |
| 68 | coenzyme catabolic process (GO:0009109) | 3.40365830 |
| 69 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.39568168 |
| 70 | cellular response to pH (GO:0071467) | 3.38033279 |
| 71 | microtubule nucleation (GO:0007020) | 3.37516426 |
| 72 | glycerol ether metabolic process (GO:0006662) | 3.34913777 |
| 73 | homeostasis of number of cells within a tissue (GO:0048873) | 3.32456262 |
| 74 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.30837216 |
| 75 | cerebral cortex neuron differentiation (GO:0021895) | 3.26726607 |
| 76 | glomerular visceral epithelial cell development (GO:0072015) | 3.22928358 |
| 77 | regulation of interleukin-13 production (GO:0032656) | 3.22098890 |
| 78 | multicellular organismal development (GO:0007275) | 3.17300560 |
| 79 | glomerular epithelial cell development (GO:0072310) | 3.13882827 |
| 80 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.12173879 |
| 81 | ether metabolic process (GO:0018904) | 3.08505300 |
| 82 | regulation of T-helper 2 cell differentiation (GO:0045628) | 3.08099900 |
| 83 | histone H3-K9 demethylation (GO:0033169) | 3.05934680 |
| 84 | protein depolymerization (GO:0051261) | 3.05528768 |
| 85 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 3.03305601 |
| 86 | negative regulation of gene expression, epigenetic (GO:0045814) | 2.96570658 |
| 87 | cell recognition (GO:0008037) | 2.96434720 |
| 88 | DNA conformation change (GO:0071103) | 2.92742635 |
| 89 | cranial nerve morphogenesis (GO:0021602) | 2.91951184 |
| 90 | mitochondrial fission (GO:0000266) | 2.89720996 |
| 91 | regulation of somitogenesis (GO:0014807) | 2.80370870 |
| 92 | receptor recycling (GO:0001881) | 2.78377876 |
| 93 | mitotic G1 DNA damage checkpoint (GO:0031571) | 2.77869530 |
| 94 | positive regulation of guanylate cyclase activity (GO:0031284) | 2.76335412 |
| 95 | Golgi to endosome transport (GO:0006895) | 2.74895085 |
| 96 | RNA localization (GO:0006403) | 2.72064115 |
| 97 | ventricular system development (GO:0021591) | 2.66756799 |
| 98 | sperm motility (GO:0030317) | 12.4169966 |
| 99 | acrosome reaction (GO:0007340) | 12.1089471 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.6615747 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.55226759 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.97428845 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.50179709 |
| 4 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.44000157 |
| 5 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.44000157 |
| 6 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.28152389 |
| 7 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.24557934 |
| 8 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.21918403 |
| 9 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.21574831 |
| 10 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.19310160 |
| 11 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.19310160 |
| 12 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.14063228 |
| 13 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.06226826 |
| 14 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 2.04044821 |
| 15 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.94016853 |
| 16 | FUS_26573619_Chip-Seq_HEK293_Human | 1.90698782 |
| 17 | ERA_21632823_ChIP-Seq_H3396_Human | 1.86517887 |
| 18 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.82718155 |
| 19 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.82046405 |
| 20 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.81355824 |
| 21 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.80857661 |
| 22 | * RAC3_21632823_ChIP-Seq_H3396_Human | 1.76790191 |
| 23 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.73253061 |
| 24 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.71087531 |
| 25 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.67739561 |
| 26 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.67048132 |
| 27 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.65236589 |
| 28 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.61740087 |
| 29 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.61081360 |
| 30 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.60269983 |
| 31 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.58338142 |
| 32 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.57816124 |
| 33 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.56898503 |
| 34 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.53433105 |
| 35 | P68_20966046_ChIP-Seq_HELA_Human | 1.52779639 |
| 36 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.52472903 |
| 37 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.52230832 |
| 38 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.51302924 |
| 39 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.50969286 |
| 40 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.48947624 |
| 41 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.48488461 |
| 42 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.47176232 |
| 43 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.46914667 |
| 44 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.45546218 |
| 45 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.43978292 |
| 46 | AR_25329375_ChIP-Seq_VCAP_Human | 1.43399077 |
| 47 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.42968959 |
| 48 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.42690088 |
| 49 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.41568923 |
| 50 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.37689871 |
| 51 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.36076102 |
| 52 | P300_27268052_Chip-Seq_Bcells_Human | 1.35725687 |
| 53 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.34760316 |
| 54 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.31994606 |
| 55 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.31924924 |
| 56 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.31387665 |
| 57 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.30447099 |
| 58 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.29350399 |
| 59 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.29067327 |
| 60 | * RBPJ_21746931_ChIP-Seq_IB4_Human | 1.28053405 |
| 61 | * SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.27721323 |
| 62 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.27692196 |
| 63 | * CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.27235702 |
| 64 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.25666388 |
| 65 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.25598906 |
| 66 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.25402446 |
| 67 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.25266253 |
| 68 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.25004868 |
| 69 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.24285781 |
| 70 | NFYB_21822215_ChIP-Seq_K562_Human | 1.20938172 |
| 71 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.19500784 |
| 72 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.18920233 |
| 73 | TBL1_22424771_ChIP-Seq_293T_Human | 1.18070242 |
| 74 | P300_19829295_ChIP-Seq_ESCs_Human | 1.17980796 |
| 75 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.17712009 |
| 76 | * CEBPB_22108803_ChIP-Seq_LS180_Human | 1.13893440 |
| 77 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.13022179 |
| 78 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.13021187 |
| 79 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.12421771 |
| 80 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.12219339 |
| 81 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.12092661 |
| 82 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.10694072 |
| 83 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.10319291 |
| 84 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.09329348 |
| 85 | SA1_27219007_Chip-Seq_Bcells_Human | 1.08937042 |
| 86 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.05709413 |
| 87 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.05235463 |
| 88 | NFYA_21822215_ChIP-Seq_K562_Human | 1.02732655 |
| 89 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.02284756 |
| 90 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.02235937 |
| 91 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.02078931 |
| 92 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.01432184 |
| 93 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.01396777 |
| 94 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.00673054 |
| 95 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.00489945 |
| 96 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.00489945 |
| 97 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.00368771 |
| 98 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.00120527 |
| 99 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 0.98900141 |
| 100 | * SMAD4_21741376_ChIP-Seq_HESCs_Human | 0.97633783 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005377_hearing/vestibular/ear_phenot | 5.17857030 |
| 2 | MP0003878_abnormal_ear_physiology | 5.17857030 |
| 3 | MP0005670_abnormal_white_adipose | 5.09641049 |
| 4 | MP0003698_abnormal_male_reproductive | 4.63917663 |
| 5 | MP0001929_abnormal_gametogenesis | 4.06105561 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.30268984 |
| 7 | MP0002161_abnormal_fertility/fecundity | 2.62490684 |
| 8 | MP0000678_abnormal_parathyroid_gland | 2.25650136 |
| 9 | MP0003718_maternal_effect | 2.14967115 |
| 10 | MP0003646_muscle_fatigue | 2.06482350 |
| 11 | MP0005410_abnormal_fertilization | 12.7434907 |
| 12 | MP0002210_abnormal_sex_determination | 1.86266772 |
| 13 | MP0002132_abnormal_respiratory_system | 1.79529313 |
| 14 | MP0003011_delayed_dark_adaptation | 1.76249144 |
| 15 | MP0005423_abnormal_somatic_nervous | 1.65659995 |
| 16 | MP0005379_endocrine/exocrine_gland_phen | 1.59851190 |
| 17 | MP0001485_abnormal_pinna_reflex | 1.59080702 |
| 18 | MP0001145_abnormal_male_reproductive | 1.52128429 |
| 19 | MP0000653_abnormal_sex_gland | 1.44582922 |
| 20 | MP0002234_abnormal_pharynx_morphology | 1.44114901 |
| 21 | MP0005310_abnormal_salivary_gland | 1.43148519 |
| 22 | MP0002249_abnormal_larynx_morphology | 1.41273685 |
| 23 | MP0001486_abnormal_startle_reflex | 1.39731275 |
| 24 | MP0002822_catalepsy | 1.39046575 |
| 25 | MP0005451_abnormal_body_composition | 1.32884005 |
| 26 | MP0009053_abnormal_anal_canal | 1.31671860 |
| 27 | MP0002282_abnormal_trachea_morphology | 1.30578964 |
| 28 | MP0004859_abnormal_synaptic_plasticity | 1.23465763 |
| 29 | MP0003879_abnormal_hair_cell | 1.22384854 |
| 30 | MP0000534_abnormal_ureter_morphology | 1.16988325 |
| 31 | MP0002138_abnormal_hepatobiliary_system | 1.14541706 |
| 32 | MP0001765_abnormal_ion_homeostasis | 1.14396880 |
| 33 | MP0004742_abnormal_vestibular_system | 1.14374028 |
| 34 | MP0002735_abnormal_chemical_nociception | 1.11406529 |
| 35 | MP0001963_abnormal_hearing_physiology | 1.07408736 |
| 36 | MP0002127_abnormal_cardiovascular_syste | 0.98570380 |
| 37 | MP0009115_abnormal_fat_cell | 0.98209663 |
| 38 | MP0001968_abnormal_touch/_nociception | 0.97887336 |
| 39 | MP0005395_other_phenotype | 0.97640607 |
| 40 | MP0004510_myositis | 0.95288199 |
| 41 | MP0005666_abnormal_adipose_tissue | 0.91903982 |
| 42 | MP0005248_abnormal_Harderian_gland | 0.91343260 |
| 43 | MP0000026_abnormal_inner_ear | 0.90745046 |
| 44 | MP0000955_abnormal_spinal_cord | 0.85806143 |
| 45 | MP0002229_neurodegeneration | 0.84187553 |
| 46 | MP0008569_lethality_at_weaning | 0.80457531 |
| 47 | MP0005551_abnormal_eye_electrophysiolog | 0.80437371 |
| 48 | MP0008877_abnormal_DNA_methylation | 0.76680656 |
| 49 | MP0001905_abnormal_dopamine_level | 0.73597399 |
| 50 | MP0005083_abnormal_biliary_tract | 0.72946018 |
| 51 | MP0002067_abnormal_sensory_capabilities | 0.72803842 |
| 52 | MP0005375_adipose_tissue_phenotype | 0.71465128 |
| 53 | MP0000681_abnormal_thyroid_gland | 0.71055408 |
| 54 | MP0002557_abnormal_social/conspecific_i | 0.68695364 |
| 55 | MP0005253_abnormal_eye_physiology | 0.68233770 |
| 56 | MP0009697_abnormal_copulation | 0.66018249 |
| 57 | MP0000049_abnormal_middle_ear | 0.63636189 |
| 58 | MP0004085_abnormal_heartbeat | 0.62723696 |
| 59 | MP0005636_abnormal_mineral_homeostasis | 0.58003539 |
| 60 | MP0001879_abnormal_lymphatic_vessel | 0.57274924 |
| 61 | MP0005167_abnormal_blood-brain_barrier | 0.56742998 |
| 62 | MP0002733_abnormal_thermal_nociception | 0.56274800 |
| 63 | MP0005367_renal/urinary_system_phenotyp | 0.52638847 |
| 64 | MP0000516_abnormal_urinary_system | 0.52638847 |
| 65 | MP0001666_abnormal_nutrient_absorption | 0.52272083 |
| 66 | MP0000003_abnormal_adipose_tissue | 0.52264457 |
| 67 | MP0003077_abnormal_cell_cycle | 0.52243564 |
| 68 | MP0002572_abnormal_emotion/affect_behav | 0.51955491 |
| 69 | MP0004484_altered_response_of | 0.51255540 |
| 70 | MP0002272_abnormal_nervous_system | 0.50036713 |
| 71 | MP0001440_abnormal_grooming_behavior | 0.48388698 |
| 72 | MP0004036_abnormal_muscle_relaxation | 0.46873443 |
| 73 | MP0009745_abnormal_behavioral_response | 0.46301919 |
| 74 | MP0001984_abnormal_olfaction | 0.45477063 |
| 75 | MP0004233_abnormal_muscle_weight | 0.45416724 |
| 76 | MP0003699_abnormal_female_reproductive | 0.45271377 |
| 77 | MP0008995_early_reproductive_senescence | 0.44623394 |
| 78 | MP0005535_abnormal_body_temperature | 0.44435502 |
| 79 | MP0001501_abnormal_sleep_pattern | 0.41819421 |
| 80 | MP0008961_abnormal_basal_metabolism | 0.41589242 |
| 81 | MP0003631_nervous_system_phenotype | 0.41197232 |
| 82 | MP0003137_abnormal_impulse_conducting | 0.40478528 |
| 83 | MP0010329_abnormal_lipoprotein_level | 0.40263125 |
| 84 | MP0001270_distended_abdomen | 0.40207974 |
| 85 | MP0000613_abnormal_salivary_gland | 0.40010650 |
| 86 | MP0002734_abnormal_mechanical_nocicepti | 0.39331039 |
| 87 | MP0000249_abnormal_blood_vessel | 0.39142293 |
| 88 | MP0000470_abnormal_stomach_morphology | 0.39011634 |
| 89 | MP0005084_abnormal_gallbladder_morpholo | 0.38996988 |
| 90 | MP0001970_abnormal_pain_threshold | 0.38809071 |
| 91 | MP0005647_abnormal_sex_gland | 0.38647465 |
| 92 | MP0002928_abnormal_bile_duct | 0.38078440 |
| 93 | MP0005623_abnormal_meninges_morphology | 0.36940468 |
| 94 | MP0005408_hypopigmentation | 0.36423232 |
| 95 | MP0000230_abnormal_systemic_arterial | 0.36363630 |
| 96 | MP0003091_abnormal_cell_migration | 0.34413458 |
| 97 | MP0003880_abnormal_central_pattern | 0.33953996 |
| 98 | MP0003632_abnormal_nervous_system | 0.33924838 |
| 99 | MP0003635_abnormal_synaptic_transmissio | 0.33300080 |
| 100 | MP0003119_abnormal_digestive_system | 0.32846925 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 8.07732964 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 6.13678861 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.13678861 |
| 4 | Tubulointerstitial nephritis (HP:0001970) | 5.76395028 |
| 5 | Chronic hepatic failure (HP:0100626) | 5.31351734 |
| 6 | Asymmetric septal hypertrophy (HP:0001670) | 5.25844888 |
| 7 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.98101062 |
| 8 | Attenuation of retinal blood vessels (HP:0007843) | 4.95731465 |
| 9 | Hyperkalemia (HP:0002153) | 4.83945881 |
| 10 | Resting tremor (HP:0002322) | 4.80840953 |
| 11 | Abnormal ciliary motility (HP:0012262) | 4.69248380 |
| 12 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.67453551 |
| 13 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.47370051 |
| 14 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.45396555 |
| 15 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.45396555 |
| 16 | Infertility (HP:0000789) | 4.36903568 |
| 17 | Nasal polyposis (HP:0100582) | 4.36685195 |
| 18 | Male infertility (HP:0003251) | 4.33236762 |
| 19 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.29406187 |
| 20 | Abnormality of macular pigmentation (HP:0008002) | 4.25994039 |
| 21 | Cone-rod dystrophy (HP:0000548) | 4.07677536 |
| 22 | Bell-shaped thorax (HP:0001591) | 4.02711384 |
| 23 | Facial shape deformation (HP:0011334) | 3.90414729 |
| 24 | Potter facies (HP:0002009) | 3.90414729 |
| 25 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.83882337 |
| 26 | Abnormality of the nasal mucosa (HP:0000433) | 3.56073196 |
| 27 | Hypoalphalipoproteinemia (HP:0003233) | 3.54970849 |
| 28 | Hypoplasia of the thymus (HP:0000778) | 3.53482972 |
| 29 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.52175191 |
| 30 | Progressive sensorineural hearing impairment (HP:0000408) | 3.40797427 |
| 31 | Impulsivity (HP:0100710) | 3.39824386 |
| 32 | Hypoplastic ischia (HP:0003175) | 3.29787272 |
| 33 | Abnormal spermatogenesis (HP:0008669) | 3.22954976 |
| 34 | Postural instability (HP:0002172) | 3.22929092 |
| 35 | Menstrual irregularities (HP:0000858) | 3.18447932 |
| 36 | Enlarged epiphyses (HP:0010580) | 3.16667763 |
| 37 | Azoospermia (HP:0000027) | 3.09471941 |
| 38 | Renovascular hypertension (HP:0100817) | 2.98387336 |
| 39 | Abnormality of the ischium (HP:0003174) | 2.96195440 |
| 40 | Truncal obesity (HP:0001956) | 2.92549707 |
| 41 | Rhinitis (HP:0012384) | 2.86932696 |
| 42 | Amelogenesis imperfecta (HP:0000705) | 2.82538551 |
| 43 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.78720897 |
| 44 | Abnormal urine output (HP:0012590) | 2.74164690 |
| 45 | Progressive cerebellar ataxia (HP:0002073) | 2.70981999 |
| 46 | Unilateral renal agenesis (HP:0000122) | 2.70512322 |
| 47 | Portal hypertension (HP:0001409) | 2.69545344 |
| 48 | Nephronophthisis (HP:0000090) | 2.66512921 |
| 49 | Tubulointerstitial abnormality (HP:0001969) | 2.64811175 |
| 50 | Abnormality of potassium homeostasis (HP:0011042) | 2.64345382 |
| 51 | Generalized aminoaciduria (HP:0002909) | 2.63025138 |
| 52 | Abnormality of dental color (HP:0011073) | 2.62628636 |
| 53 | Stage 5 chronic kidney disease (HP:0003774) | 2.59033429 |
| 54 | Abnormality of the aortic arch (HP:0012303) | 2.56942537 |
| 55 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.55910888 |
| 56 | Congenital malformation of the right heart (HP:0011723) | 2.55375742 |
| 57 | Double outlet right ventricle (HP:0001719) | 2.55375742 |
| 58 | Renal dysplasia (HP:0000110) | 2.52118664 |
| 59 | Abnormality of the hepatic vasculature (HP:0006707) | 2.48348491 |
| 60 | Abnormality of the costochondral junction (HP:0000919) | 2.47256626 |
| 61 | Abnormality of renal excretion (HP:0011036) | 2.36746781 |
| 62 | Polydipsia (HP:0001959) | 2.33226223 |
| 63 | Abnormal drinking behavior (HP:0030082) | 2.33226223 |
| 64 | Hyperuricemia (HP:0002149) | 2.27119565 |
| 65 | Increased purine levels (HP:0004368) | 2.27119565 |
| 66 | Abnormality of the renal medulla (HP:0100957) | 2.25658879 |
| 67 | Chronic bronchitis (HP:0004469) | 2.19948569 |
| 68 | Progressive hearing impairment (HP:0001730) | 2.17171067 |
| 69 | Polyuria (HP:0000103) | 2.14271610 |
| 70 | Ventricular tachycardia (HP:0004756) | 2.14157544 |
| 71 | Flattened epiphyses (HP:0003071) | 2.12273871 |
| 72 | Abnormality of the parathyroid morphology (HP:0011766) | 2.11299698 |
| 73 | Myokymia (HP:0002411) | 2.11203396 |
| 74 | Bronchiectasis (HP:0002110) | 2.10109677 |
| 75 | Osteomalacia (HP:0002749) | 2.09257093 |
| 76 | Recurrent pneumonia (HP:0006532) | 2.02839274 |
| 77 | Widely patent fontanelles and sutures (HP:0004492) | 2.02283136 |
| 78 | Epiphyseal dysplasia (HP:0002656) | 1.96518278 |
| 79 | Hypophosphatemic rickets (HP:0004912) | 1.95276312 |
| 80 | Subcapsular cataract (HP:0000523) | 1.94187313 |
| 81 | Hyponatremia (HP:0002902) | 1.93286001 |
| 82 | Optic nerve hypoplasia (HP:0000609) | 1.85718928 |
| 83 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.84922464 |
| 84 | Focal segmental glomerulosclerosis (HP:0000097) | 1.84608743 |
| 85 | Renal Fanconi syndrome (HP:0001994) | 1.81320620 |
| 86 | Intellectual disability, moderate (HP:0002342) | 1.80637064 |
| 87 | Decreased central vision (HP:0007663) | 1.79928775 |
| 88 | Tetany (HP:0001281) | 1.79286892 |
| 89 | Absent epiphyses (HP:0010577) | 1.77075031 |
| 90 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.77075031 |
| 91 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 1.74999456 |
| 92 | Bradycardia (HP:0001662) | 1.73922165 |
| 93 | Hypolipoproteinemia (HP:0010981) | 1.73146061 |
| 94 | Abnormal ventriculo-arterial connection (HP:0011563) | 1.72697503 |
| 95 | Transposition of the great arteries (HP:0001669) | 1.72697503 |
| 96 | Abnormal connection of the cardiac segments (HP:0011545) | 1.72697503 |
| 97 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 1.71900183 |
| 98 | Abnormality of femoral epiphyses (HP:0006499) | 1.71900183 |
| 99 | Neoplasm of the heart (HP:0100544) | 1.71479555 |
| 100 | Insulin resistance (HP:0000855) | 1.71207986 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 8.46753417 |
| 2 | TESK1 | 5.94448704 |
| 3 | DDR2 | 4.31132393 |
| 4 | STK38 | 3.83337993 |
| 5 | PNCK | 3.36301816 |
| 6 | INSRR | 3.35748506 |
| 7 | BRD4 | 3.31816763 |
| 8 | PLK2 | 3.10836720 |
| 9 | MAP4K2 | 3.02466783 |
| 10 | STK38L | 2.73592673 |
| 11 | PRKD3 | 2.73330151 |
| 12 | CAMK1G | 2.55563800 |
| 13 | MAPK15 | 2.44329594 |
| 14 | MST1R | 1.87553997 |
| 15 | PIK3CG | 1.72559865 |
| 16 | PDPK1 | 1.69355068 |
| 17 | PDK1 | 1.58166732 |
| 18 | NEK6 | 1.56480565 |
| 19 | DYRK1B | 1.50984868 |
| 20 | WNK1 | 1.45949940 |
| 21 | CDK12 | 1.38403234 |
| 22 | CDK7 | 1.17987492 |
| 23 | PTK2B | 1.10914992 |
| 24 | AKT3 | 1.07551035 |
| 25 | MAP3K9 | 1.00435709 |
| 26 | KSR2 | 0.99308181 |
| 27 | TYRO3 | 0.98538964 |
| 28 | SIK2 | 0.92439826 |
| 29 | CAMK1D | 0.87661597 |
| 30 | PRKG2 | 0.79293904 |
| 31 | BRAF | 0.78186478 |
| 32 | WNK4 | 0.74515473 |
| 33 | MAP3K11 | 0.72543853 |
| 34 | LATS2 | 0.69830723 |
| 35 | PRKG1 | 0.67568766 |
| 36 | RPS6KA2 | 0.66905060 |
| 37 | MAP2K2 | 0.66822833 |
| 38 | STK39 | 0.65487199 |
| 39 | RPS6KA1 | 0.62991304 |
| 40 | UHMK1 | 0.62213749 |
| 41 | CAMK1 | 0.58573019 |
| 42 | MAP3K2 | 0.58415835 |
| 43 | RIPK4 | 0.54604069 |
| 44 | PINK1 | 0.54024540 |
| 45 | ROCK1 | 0.53076221 |
| 46 | SGK494 | 0.53042155 |
| 47 | SGK223 | 0.53042155 |
| 48 | PRKAA2 | 0.51115736 |
| 49 | CDK3 | 0.50013315 |
| 50 | MAP3K8 | 0.49158949 |
| 51 | GSK3B | 0.46758918 |
| 52 | LATS1 | 0.46598403 |
| 53 | CDK2 | 0.46092912 |
| 54 | BMPR1B | 0.43304978 |
| 55 | MAPK1 | 0.41332135 |
| 56 | CDK1 | 0.40834392 |
| 57 | MAP3K1 | 0.39942895 |
| 58 | MTOR | 0.39642054 |
| 59 | MAPK8 | 0.37418911 |
| 60 | TIE1 | 0.34710170 |
| 61 | CDK4 | 0.33863853 |
| 62 | RPS6KC1 | 0.33252019 |
| 63 | RPS6KL1 | 0.33252019 |
| 64 | CAMK4 | 0.32998370 |
| 65 | SGK1 | 0.32300230 |
| 66 | TESK2 | 0.31022931 |
| 67 | MARK1 | 0.30715376 |
| 68 | PRKCZ | 0.30686944 |
| 69 | RPS6KA6 | 0.30259441 |
| 70 | ARAF | 0.28918103 |
| 71 | MET | 0.28056764 |
| 72 | PRKCG | 0.27432805 |
| 73 | CHEK1 | 0.26853714 |
| 74 | MUSK | 0.26285740 |
| 75 | NTRK3 | 0.25489769 |
| 76 | NEK2 | 0.24723112 |
| 77 | PRKCB | 0.23607422 |
| 78 | MAPK14 | 0.23584630 |
| 79 | MAPK10 | 0.21566419 |
| 80 | BRSK1 | 0.21428021 |
| 81 | MAP3K4 | 0.18881827 |
| 82 | MARK2 | 0.18182020 |
| 83 | MAPK11 | 0.16865961 |
| 84 | JAK3 | 0.16466311 |
| 85 | AKT1 | 0.14954289 |
| 86 | OXSR1 | 0.13959939 |
| 87 | MINK1 | 0.12646498 |
| 88 | SGK2 | 0.12090778 |
| 89 | PKN1 | 0.11414372 |
| 90 | BLK | 0.10264818 |
| 91 | FRK | 0.09315010 |
| 92 | TNIK | 0.09119920 |
| 93 | PRKACB | 0.09066881 |
| 94 | FER | 0.09005468 |
| 95 | PRKACA | 0.08644912 |
| 96 | PRKAA1 | 0.07365066 |
| 97 | MAP2K7 | 0.07055711 |
| 98 | RPS6KA3 | 0.05370878 |
| 99 | MAPK9 | 0.05264068 |
| 100 | PRKCQ | 0.04444551 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 7.54868742 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 7.27894347 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.48834998 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.55063500 |
| 5 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.16896003 |
| 6 | Fatty acid degradation_Homo sapiens_hsa00071 | 2.00279884 |
| 7 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.85088626 |
| 8 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.81741023 |
| 9 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.80423917 |
| 10 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.71267654 |
| 11 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.66111816 |
| 12 | Taste transduction_Homo sapiens_hsa04742 | 1.62106765 |
| 13 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.52058087 |
| 14 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.50433787 |
| 15 | RNA transport_Homo sapiens_hsa03013 | 1.49314324 |
| 16 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.44271654 |
| 17 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.42212669 |
| 18 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.39133000 |
| 19 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.31043198 |
| 20 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.24764774 |
| 21 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.19359176 |
| 22 | Allograft rejection_Homo sapiens_hsa05330 | 1.17520311 |
| 23 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.15406533 |
| 24 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.13373502 |
| 25 | Phototransduction_Homo sapiens_hsa04744 | 1.05792021 |
| 26 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.05252039 |
| 27 | Endocytosis_Homo sapiens_hsa04144 | 1.01323105 |
| 28 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.00555767 |
| 29 | Salivary secretion_Homo sapiens_hsa04970 | 0.97987537 |
| 30 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.96092536 |
| 31 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.95338402 |
| 32 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.95264244 |
| 33 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.93649477 |
| 34 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.93401016 |
| 35 | Morphine addiction_Homo sapiens_hsa05032 | 0.89582654 |
| 36 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.86716120 |
| 37 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.86567948 |
| 38 | Viral myocarditis_Homo sapiens_hsa05416 | 0.85749000 |
| 39 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.85520179 |
| 40 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.83979802 |
| 41 | Circadian entrainment_Homo sapiens_hsa04713 | 0.82107992 |
| 42 | ABC transporters_Homo sapiens_hsa02010 | 0.78304143 |
| 43 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.76706659 |
| 44 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.73755895 |
| 45 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.73037904 |
| 46 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.71751374 |
| 47 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.71668435 |
| 48 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.71611453 |
| 49 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.70305188 |
| 50 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.69691626 |
| 51 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.68086933 |
| 52 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.66825322 |
| 53 | Influenza A_Homo sapiens_hsa05164 | 0.66745073 |
| 54 | Nicotine addiction_Homo sapiens_hsa05033 | 0.66103690 |
| 55 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.64087236 |
| 56 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.64034978 |
| 57 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.62861642 |
| 58 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.62728721 |
| 59 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.61947206 |
| 60 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.60100686 |
| 61 | Renin secretion_Homo sapiens_hsa04924 | 0.59821642 |
| 62 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.58329820 |
| 63 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.57625185 |
| 64 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.52893752 |
| 65 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.49965631 |
| 66 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.48878844 |
| 67 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.48326551 |
| 68 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.47672714 |
| 69 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.47526817 |
| 70 | Tight junction_Homo sapiens_hsa04530 | 0.46391455 |
| 71 | Bile secretion_Homo sapiens_hsa04976 | 0.45736008 |
| 72 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.44530522 |
| 73 | Insulin secretion_Homo sapiens_hsa04911 | 0.43048417 |
| 74 | Long-term potentiation_Homo sapiens_hsa04720 | 0.42964490 |
| 75 | Retinol metabolism_Homo sapiens_hsa00830 | 0.42885576 |
| 76 | Purine metabolism_Homo sapiens_hsa00230 | 0.42798935 |
| 77 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.41871947 |
| 78 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.41241626 |
| 79 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.41087319 |
| 80 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.40700617 |
| 81 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.38817075 |
| 82 | GABAergic synapse_Homo sapiens_hsa04727 | 0.34240749 |
| 83 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.32071923 |
| 84 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.29891219 |
| 85 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.26938518 |
| 86 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.26544696 |
| 87 | Basal transcription factors_Homo sapiens_hsa03022 | 0.24060811 |
| 88 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.21174798 |
| 89 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.20831101 |
| 90 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.19706718 |
| 91 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.19167821 |
| 92 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.19158077 |
| 93 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.18685079 |
| 94 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.17802345 |
| 95 | Alcoholism_Homo sapiens_hsa05034 | 0.16082452 |
| 96 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.14359879 |
| 97 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.13798177 |
| 98 | Metabolic pathways_Homo sapiens_hsa01100 | 0.12519054 |
| 99 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.12491606 |
| 100 | Legionellosis_Homo sapiens_hsa05134 | 0.10284901 |

