

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | DNA packaging (GO:0006323) | 9.61786956 |
| 2 | sperm capacitation (GO:0048240) | 8.91588542 |
| 3 | plasma membrane fusion (GO:0045026) | 8.87852587 |
| 4 | microtubule depolymerization (GO:0007019) | 8.55814417 |
| 5 | spermatid nucleus differentiation (GO:0007289) | 8.31438175 |
| 6 | single strand break repair (GO:0000012) | 8.28612907 |
| 7 | sperm-egg recognition (GO:0035036) | 7.73442908 |
| 8 | spermatid development (GO:0007286) | 7.61082934 |
| 9 | binding of sperm to zona pellucida (GO:0007339) | 7.50004715 |
| 10 | sexual reproduction (GO:0019953) | 7.20382262 |
| 11 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 7.13634093 |
| 12 | negative regulation of inclusion body assembly (GO:0090084) | 7.01176992 |
| 13 | calcium ion-dependent exocytosis (GO:0017156) | 6.72413122 |
| 14 | multicellular organism reproduction (GO:0032504) | 6.66947497 |
| 15 | microtubule polymerization or depolymerization (GO:0031109) | 6.65337883 |
| 16 | rRNA methylation (GO:0031167) | 6.58971503 |
| 17 | reproduction (GO:0000003) | 6.57720699 |
| 18 | cell-cell recognition (GO:0009988) | 6.37560488 |
| 19 | cellular ketone body metabolic process (GO:0046950) | 6.26079037 |
| 20 | spermatogenesis (GO:0007283) | 5.89588544 |
| 21 | male gamete generation (GO:0048232) | 5.87480882 |
| 22 | protein polyglutamylation (GO:0018095) | 5.83790888 |
| 23 | axonemal dynein complex assembly (GO:0070286) | 5.77887879 |
| 24 | rRNA modification (GO:0000154) | 5.54845578 |
| 25 | ketone body metabolic process (GO:1902224) | 5.51862162 |
| 26 | protein targeting to Golgi (GO:0000042) | 5.47405917 |
| 27 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.40526877 |
| 28 | gamete generation (GO:0007276) | 5.34922983 |
| 29 | establishment of protein localization to Golgi (GO:0072600) | 5.25414429 |
| 30 | microtubule severing (GO:0051013) | 5.24700980 |
| 31 | chromatin silencing (GO:0006342) | 5.21727880 |
| 32 | regulation of Rab GTPase activity (GO:0032313) | 5.10784274 |
| 33 | positive regulation of Rab GTPase activity (GO:0032851) | 5.10784274 |
| 34 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.07004772 |
| 35 | regulation of inclusion body assembly (GO:0090083) | 5.02137583 |
| 36 | phosphatidylethanolamine metabolic process (GO:0046337) | 4.95761651 |
| 37 | coenzyme catabolic process (GO:0009109) | 4.94128213 |
| 38 | negative regulation of Rho protein signal transduction (GO:0035024) | 4.80538471 |
| 39 | motile cilium assembly (GO:0044458) | 4.78024499 |
| 40 | single fertilization (GO:0007338) | 4.53247222 |
| 41 | centriole replication (GO:0007099) | 4.48695147 |
| 42 | cell wall macromolecule catabolic process (GO:0016998) | 4.41945212 |
| 43 | germ cell development (GO:0007281) | 4.31141836 |
| 44 | glycerol ether metabolic process (GO:0006662) | 4.29608416 |
| 45 | multicellular organismal reproductive process (GO:0048609) | 4.27822623 |
| 46 | regulation of somitogenesis (GO:0014807) | 4.21448794 |
| 47 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.20748949 |
| 48 | regulation of cilium movement (GO:0003352) | 4.16494492 |
| 49 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.14023534 |
| 50 | centriole assembly (GO:0098534) | 3.99944910 |
| 51 | protein localization to Golgi apparatus (GO:0034067) | 3.98331746 |
| 52 | cell wall macromolecule metabolic process (GO:0044036) | 3.98272426 |
| 53 | ether metabolic process (GO:0018904) | 3.96171839 |
| 54 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 3.85257229 |
| 55 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 3.85257229 |
| 56 | RNA destabilization (GO:0050779) | 3.84031715 |
| 57 | nucleus organization (GO:0006997) | 3.83008774 |
| 58 | cilium or flagellum-dependent cell motility (GO:0001539) | 3.80670277 |
| 59 | cell differentiation involved in metanephros development (GO:0072202) | 3.71930387 |
| 60 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.63897690 |
| 61 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.61461202 |
| 62 | cranial nerve morphogenesis (GO:0021602) | 3.60470644 |
| 63 | fertilization (GO:0009566) | 3.59303491 |
| 64 | histone H3-K9 demethylation (GO:0033169) | 3.55287619 |
| 65 | regulation of centriole replication (GO:0046599) | 3.45851034 |
| 66 | NAD biosynthetic process (GO:0009435) | 3.40745993 |
| 67 | peptidyl-proline hydroxylation (GO:0019511) | 3.39999514 |
| 68 | tooth mineralization (GO:0034505) | 3.37346374 |
| 69 | epithelial cilium movement (GO:0003351) | 3.33146644 |
| 70 | protein-DNA complex disassembly (GO:0032986) | 3.32736232 |
| 71 | nucleosome disassembly (GO:0006337) | 3.32736232 |
| 72 | glomerular visceral epithelial cell development (GO:0072015) | 3.25097435 |
| 73 | seminiferous tubule development (GO:0072520) | 3.24619990 |
| 74 | regulation of interleukin-13 production (GO:0032656) | 3.24090002 |
| 75 | protein depolymerization (GO:0051261) | 3.23733630 |
| 76 | negative regulation of mesenchymal cell apoptotic process (GO:2001054) | 3.22318212 |
| 77 | response to acidic pH (GO:0010447) | 3.20522464 |
| 78 | regulation of T-helper 2 cell differentiation (GO:0045628) | 3.18944844 |
| 79 | glomerular epithelial cell development (GO:0072310) | 3.16976828 |
| 80 | DNA conformation change (GO:0071103) | 3.11320452 |
| 81 | organic cation transport (GO:0015695) | 3.10205127 |
| 82 | polyamine biosynthetic process (GO:0006596) | 3.10050538 |
| 83 | musculoskeletal movement (GO:0050881) | 3.09448328 |
| 84 | multicellular organismal movement (GO:0050879) | 3.09448328 |
| 85 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.08627806 |
| 86 | cell recognition (GO:0008037) | 3.08152700 |
| 87 | metanephric mesenchyme development (GO:0072075) | 3.05841422 |
| 88 | opsonization (GO:0008228) | 3.05077338 |
| 89 | cerebral cortex neuron differentiation (GO:0021895) | 3.03778846 |
| 90 | regulation of microtubule-based movement (GO:0060632) | 3.03083699 |
| 91 | actin filament capping (GO:0051693) | 3.01134557 |
| 92 | cofactor catabolic process (GO:0051187) | 3.00189494 |
| 93 | cellular response to pH (GO:0071467) | 3.00132506 |
| 94 | pattern specification involved in kidney development (GO:0061004) | 3.00121745 |
| 95 | cilium movement (GO:0003341) | 2.99072276 |
| 96 | acrosome reaction (GO:0007340) | 12.6746773 |
| 97 | response to pheromone (GO:0019236) | 11.7099089 |
| 98 | fusion of sperm to egg plasma membrane (GO:0007342) | 11.6868548 |
| 99 | sperm motility (GO:0030317) | 10.8139242 |
| 100 | chromosome condensation (GO:0030261) | 10.2675225 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.96120906 |
| 2 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 4.08591635 |
| 3 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.60050594 |
| 4 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.80598650 |
| 5 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.35669526 |
| 6 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.35669526 |
| 7 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 2.33740050 |
| 8 | ERA_21632823_ChIP-Seq_H3396_Human | 2.17368094 |
| 9 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 2.04843174 |
| 10 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.03631982 |
| 11 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.01152475 |
| 12 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.01152475 |
| 13 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.98851533 |
| 14 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.95367067 |
| 15 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.93531963 |
| 16 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.92969571 |
| 17 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.90542837 |
| 18 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.89119749 |
| 19 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.88915993 |
| 20 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.88888197 |
| 21 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.86651078 |
| 22 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.78731399 |
| 23 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.76143562 |
| 24 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.75083956 |
| 25 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.72985526 |
| 26 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.71511372 |
| 27 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.68597518 |
| 28 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.67869714 |
| 29 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.67099499 |
| 30 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.65224279 |
| 31 | P68_20966046_ChIP-Seq_HELA_Human | 1.65103250 |
| 32 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.64497066 |
| 33 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.63470430 |
| 34 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.63240535 |
| 35 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.62920126 |
| 36 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.61739301 |
| 37 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.60307884 |
| 38 | FUS_26573619_Chip-Seq_HEK293_Human | 1.53767803 |
| 39 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.52651242 |
| 40 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.52328808 |
| 41 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.47864106 |
| 42 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.46575552 |
| 43 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.46313031 |
| 44 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.45083373 |
| 45 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.43587440 |
| 46 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.42052600 |
| 47 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.40277550 |
| 48 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.40010287 |
| 49 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.38514734 |
| 50 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.37012933 |
| 51 | P300_27268052_Chip-Seq_Bcells_Human | 1.36856234 |
| 52 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.33766173 |
| 53 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 1.31889527 |
| 54 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.31112526 |
| 55 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.29860926 |
| 56 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.26908580 |
| 57 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.25911636 |
| 58 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.25539415 |
| 59 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.25411307 |
| 60 | SA1_27219007_Chip-Seq_Bcells_Human | 1.25083585 |
| 61 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.24525276 |
| 62 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.23887170 |
| 63 | AR_25329375_ChIP-Seq_VCAP_Human | 1.23869515 |
| 64 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.23613939 |
| 65 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.22870616 |
| 66 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.21724734 |
| 67 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.20139381 |
| 68 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.20073885 |
| 69 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.18536429 |
| 70 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.18516489 |
| 71 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.18107214 |
| 72 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.17883622 |
| 73 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.13936195 |
| 74 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.12965084 |
| 75 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.12746304 |
| 76 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.11449780 |
| 77 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 1.10837165 |
| 78 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.09705319 |
| 79 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.08756491 |
| 80 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.08299322 |
| 81 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.08130029 |
| 82 | NFYB_21822215_ChIP-Seq_K562_Human | 1.07792604 |
| 83 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.06864776 |
| 84 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.06735209 |
| 85 | RUNX1_27514584_Chip-Seq_MCF-7_Human | 1.05647657 |
| 86 | TBL1_22424771_ChIP-Seq_293T_Human | 1.05091517 |
| 87 | P300_19829295_ChIP-Seq_ESCs_Human | 1.05075989 |
| 88 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.04406717 |
| 89 | CSB_26484114_Chip-Seq_FIBROBLAST_Human | 1.04404831 |
| 90 | VDR_22108803_ChIP-Seq_LS180_Human | 1.01367671 |
| 91 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 1.01327405 |
| 92 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.00880200 |
| 93 | RUNX2_22187159_ChIP-Seq_PCA_Human | 0.98477572 |
| 94 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 0.98199672 |
| 95 | PHF8_20622853_ChIP-Seq_HELA_Human | 0.97930401 |
| 96 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 0.97571363 |
| 97 | ZNF274_21170338_ChIP-Seq_K562_Hela | 0.95581021 |
| 98 | STAT1_20625510_ChIP-Seq_HELA_Human | 0.95460029 |
| 99 | OCT4_19829295_ChIP-Seq_ESCs_Human | 0.95210057 |
| 100 | KLF5_25053715_ChIP-Seq_YYC3_Human | 0.94638655 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003878_abnormal_ear_physiology | 4.73706392 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 4.73706392 |
| 3 | MP0003698_abnormal_male_reproductive | 4.31462794 |
| 4 | MP0005670_abnormal_white_adipose | 4.16324540 |
| 5 | MP0001348_abnormal_lacrimal_gland | 3.73197740 |
| 6 | MP0001929_abnormal_gametogenesis | 3.60021493 |
| 7 | MP0000678_abnormal_parathyroid_gland | 3.25159225 |
| 8 | MP0003011_delayed_dark_adaptation | 3.08656277 |
| 9 | MP0002132_abnormal_respiratory_system | 2.47102505 |
| 10 | MP0002161_abnormal_fertility/fecundity | 2.40593334 |
| 11 | MP0003718_maternal_effect | 2.25604185 |
| 12 | MP0002234_abnormal_pharynx_morphology | 2.24231169 |
| 13 | MP0002249_abnormal_larynx_morphology | 2.08836523 |
| 14 | MP0004510_myositis | 2.05072724 |
| 15 | MP0005410_abnormal_fertilization | 12.3926724 |
| 16 | MP0003646_muscle_fatigue | 1.78740711 |
| 17 | MP0005423_abnormal_somatic_nervous | 1.74509780 |
| 18 | MP0005379_endocrine/exocrine_gland_phen | 1.64906853 |
| 19 | MP0009053_abnormal_anal_canal | 1.62878216 |
| 20 | MP0002282_abnormal_trachea_morphology | 1.53864689 |
| 21 | MP0001486_abnormal_startle_reflex | 1.41917897 |
| 22 | MP0002127_abnormal_cardiovascular_syste | 1.37766445 |
| 23 | MP0002210_abnormal_sex_determination | 1.36412063 |
| 24 | MP0004742_abnormal_vestibular_system | 1.36073823 |
| 25 | MP0001765_abnormal_ion_homeostasis | 1.32210370 |
| 26 | MP0000534_abnormal_ureter_morphology | 1.31675234 |
| 27 | MP0005310_abnormal_salivary_gland | 1.31457565 |
| 28 | MP0001485_abnormal_pinna_reflex | 1.22976117 |
| 29 | MP0005248_abnormal_Harderian_gland | 1.21586232 |
| 30 | MP0002735_abnormal_chemical_nociception | 1.21192274 |
| 31 | MP0001968_abnormal_touch/_nociception | 1.20528227 |
| 32 | MP0001145_abnormal_male_reproductive | 1.20212401 |
| 33 | MP0000681_abnormal_thyroid_gland | 1.18071621 |
| 34 | MP0000653_abnormal_sex_gland | 1.13667195 |
| 35 | MP0000049_abnormal_middle_ear | 1.12961997 |
| 36 | MP0000026_abnormal_inner_ear | 1.10209006 |
| 37 | MP0002138_abnormal_hepatobiliary_system | 1.08999204 |
| 38 | MP0001963_abnormal_hearing_physiology | 1.07948008 |
| 39 | MP0005395_other_phenotype | 1.07000027 |
| 40 | MP0004859_abnormal_synaptic_plasticity | 0.95612680 |
| 41 | MP0000516_abnormal_urinary_system | 0.91822106 |
| 42 | MP0005367_renal/urinary_system_phenotyp | 0.91822106 |
| 43 | MP0002733_abnormal_thermal_nociception | 0.90311498 |
| 44 | MP0002653_abnormal_ependyma_morphology | 0.90229887 |
| 45 | MP0001879_abnormal_lymphatic_vessel | 0.88592011 |
| 46 | MP0002229_neurodegeneration | 0.87335541 |
| 47 | MP0003879_abnormal_hair_cell | 0.85620674 |
| 48 | MP0006292_abnormal_olfactory_placode | 0.83430467 |
| 49 | MP0005083_abnormal_biliary_tract | 0.83364200 |
| 50 | MP0000566_synostosis | 0.79908191 |
| 51 | MP0000955_abnormal_spinal_cord | 0.79824282 |
| 52 | MP0005636_abnormal_mineral_homeostasis | 0.78666971 |
| 53 | MP0004085_abnormal_heartbeat | 0.76483043 |
| 54 | MP0008877_abnormal_DNA_methylation | 0.73940973 |
| 55 | MP0004484_altered_response_of | 0.71570920 |
| 56 | MP0005375_adipose_tissue_phenotype | 0.65775150 |
| 57 | MP0001666_abnormal_nutrient_absorption | 0.65662066 |
| 58 | MP0005666_abnormal_adipose_tissue | 0.64123387 |
| 59 | MP0002067_abnormal_sensory_capabilities | 0.63845757 |
| 60 | MP0005623_abnormal_meninges_morphology | 0.61895731 |
| 61 | MP0005167_abnormal_blood-brain_barrier | 0.61546054 |
| 62 | MP0005551_abnormal_eye_electrophysiolog | 0.60936409 |
| 63 | MP0000003_abnormal_adipose_tissue | 0.60522707 |
| 64 | MP0002822_catalepsy | 0.58324434 |
| 65 | MP0001970_abnormal_pain_threshold | 0.57954382 |
| 66 | MP0003119_abnormal_digestive_system | 0.57495614 |
| 67 | MP0008569_lethality_at_weaning | 0.55297254 |
| 68 | MP0000249_abnormal_blood_vessel | 0.55290981 |
| 69 | MP0002557_abnormal_social/conspecific_i | 0.55279768 |
| 70 | MP0003172_abnormal_lysosome_physiology | 0.53622628 |
| 71 | MP0008995_early_reproductive_senescence | 0.53081834 |
| 72 | MP0003942_abnormal_urinary_system | 0.51550720 |
| 73 | MP0000613_abnormal_salivary_gland | 0.51199902 |
| 74 | MP0008961_abnormal_basal_metabolism | 0.50929164 |
| 75 | MP0009115_abnormal_fat_cell | 0.49282746 |
| 76 | MP0003137_abnormal_impulse_conducting | 0.47715011 |
| 77 | MP0002572_abnormal_emotion/affect_behav | 0.46260448 |
| 78 | MP0001501_abnormal_sleep_pattern | 0.46145927 |
| 79 | MP0004233_abnormal_muscle_weight | 0.45173253 |
| 80 | MP0002734_abnormal_mechanical_nocicepti | 0.44951125 |
| 81 | MP0008789_abnormal_olfactory_epithelium | 0.44565314 |
| 82 | MP0003880_abnormal_central_pattern | 0.43544298 |
| 83 | MP0002272_abnormal_nervous_system | 0.42974369 |
| 84 | MP0000470_abnormal_stomach_morphology | 0.42540953 |
| 85 | MP0003936_abnormal_reproductive_system | 0.41342514 |
| 86 | MP0005253_abnormal_eye_physiology | 0.39581683 |
| 87 | MP0000467_abnormal_esophagus_morphology | 0.39519174 |
| 88 | MP0003699_abnormal_female_reproductive | 0.38665326 |
| 89 | MP0000163_abnormal_cartilage_morphology | 0.37974845 |
| 90 | MP0001984_abnormal_olfaction | 0.36433244 |
| 91 | MP0005647_abnormal_sex_gland | 0.36424287 |
| 92 | MP0002928_abnormal_bile_duct | 0.36403089 |
| 93 | MP0001440_abnormal_grooming_behavior | 0.34886092 |
| 94 | MP0005408_hypopigmentation | 0.34837517 |
| 95 | MP0005535_abnormal_body_temperature | 0.34433175 |
| 96 | MP0002115_abnormal_skeleton_extremities | 0.34303216 |
| 97 | MP0000230_abnormal_systemic_arterial | 0.34137874 |
| 98 | MP0004036_abnormal_muscle_relaxation | 0.34118578 |
| 99 | MP0003091_abnormal_cell_migration | 0.33161035 |
| 100 | MP0005166_decreased_susceptibility_to | 0.32948444 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 9.19548229 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.47824434 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 5.47824434 |
| 4 | Attenuation of retinal blood vessels (HP:0007843) | 5.35293415 |
| 5 | Bony spicule pigmentary retinopathy (HP:0007737) | 5.27398976 |
| 6 | Asymmetric septal hypertrophy (HP:0001670) | 5.02187683 |
| 7 | Hypoplastic ischia (HP:0003175) | 4.80407249 |
| 8 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.78218303 |
| 9 | Bell-shaped thorax (HP:0001591) | 4.70407021 |
| 10 | Enlarged epiphyses (HP:0010580) | 4.62515578 |
| 11 | Resting tremor (HP:0002322) | 4.48736342 |
| 12 | Abnormal ciliary motility (HP:0012262) | 4.28607347 |
| 13 | Abnormality of the ischium (HP:0003174) | 4.21170171 |
| 14 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.15128068 |
| 15 | Azoospermia (HP:0000027) | 4.14819516 |
| 16 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.10664181 |
| 17 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 4.02246224 |
| 18 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.00429652 |
| 19 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.00429652 |
| 20 | Facial shape deformation (HP:0011334) | 3.97095107 |
| 21 | Potter facies (HP:0002009) | 3.97095107 |
| 22 | Unilateral renal agenesis (HP:0000122) | 3.96881659 |
| 23 | Nasal polyposis (HP:0100582) | 3.91960833 |
| 24 | Infertility (HP:0000789) | 3.90167615 |
| 25 | Hyperkalemia (HP:0002153) | 3.88876239 |
| 26 | Male infertility (HP:0003251) | 3.61156929 |
| 27 | Abnormality of macular pigmentation (HP:0008002) | 3.58294908 |
| 28 | Abnormal spermatogenesis (HP:0008669) | 3.58078258 |
| 29 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.54933459 |
| 30 | Congenital malformation of the right heart (HP:0011723) | 3.54045105 |
| 31 | Double outlet right ventricle (HP:0001719) | 3.54045105 |
| 32 | Abnormality of the aortic arch (HP:0012303) | 3.46300002 |
| 33 | Tubulointerstitial nephritis (HP:0001970) | 3.24468553 |
| 34 | Abnormality of the nasal mucosa (HP:0000433) | 3.19395103 |
| 35 | Renal dysplasia (HP:0000110) | 3.14099333 |
| 36 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.05322476 |
| 37 | Impulsivity (HP:0100710) | 2.89064254 |
| 38 | Abnormality of the parathyroid morphology (HP:0011766) | 2.81856593 |
| 39 | Flattened epiphyses (HP:0003071) | 2.78159483 |
| 40 | Cone-rod dystrophy (HP:0000548) | 2.77072828 |
| 41 | Absent epiphyses (HP:0010577) | 2.76274421 |
| 42 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 2.76274421 |
| 43 | Chronic hepatic failure (HP:0100626) | 2.75956688 |
| 44 | Generalized aminoaciduria (HP:0002909) | 2.70998484 |
| 45 | Hypoplasia of the thymus (HP:0000778) | 2.68386641 |
| 46 | Abnormal urine output (HP:0012590) | 2.64242370 |
| 47 | Epiphyseal dysplasia (HP:0002656) | 2.63434863 |
| 48 | Hyperthyroidism (HP:0000836) | 2.57175796 |
| 49 | Postural instability (HP:0002172) | 2.55212482 |
| 50 | Stage 5 chronic kidney disease (HP:0003774) | 2.53442756 |
| 51 | Abnormality of the costochondral junction (HP:0000919) | 2.50892043 |
| 52 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 2.43437753 |
| 53 | Tetany (HP:0001281) | 2.41859023 |
| 54 | Abnormality of the pubic bones (HP:0003172) | 2.40886319 |
| 55 | Ventricular tachycardia (HP:0004756) | 2.40547104 |
| 56 | Abnormality of potassium homeostasis (HP:0011042) | 2.39304532 |
| 57 | Progressive sensorineural hearing impairment (HP:0000408) | 2.36989727 |
| 58 | Abnormality of femoral epiphyses (HP:0006499) | 2.29103708 |
| 59 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 2.29103708 |
| 60 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 2.28891492 |
| 61 | Rhinitis (HP:0012384) | 2.23868856 |
| 62 | Abnormality of renal excretion (HP:0011036) | 2.23374627 |
| 63 | Hyponatremia (HP:0002902) | 2.18627212 |
| 64 | Atelectasis (HP:0100750) | 2.18409401 |
| 65 | Flat capital femoral epiphysis (HP:0003370) | 2.18166495 |
| 66 | Abnormality of the femoral head (HP:0003368) | 2.17847950 |
| 67 | Nephronophthisis (HP:0000090) | 2.16362490 |
| 68 | Focal segmental glomerulosclerosis (HP:0000097) | 2.15217140 |
| 69 | Abnormal ventriculo-arterial connection (HP:0011563) | 2.14035330 |
| 70 | Transposition of the great arteries (HP:0001669) | 2.14035330 |
| 71 | Abnormal connection of the cardiac segments (HP:0011545) | 2.14035330 |
| 72 | Hypoparathyroidism (HP:0000829) | 2.13534743 |
| 73 | Hypophosphatemic rickets (HP:0004912) | 2.12493422 |
| 74 | Decreased central vision (HP:0007663) | 2.11430932 |
| 75 | Widely patent fontanelles and sutures (HP:0004492) | 2.09233475 |
| 76 | Polyuria (HP:0000103) | 2.06328040 |
| 77 | Bowel incontinence (HP:0002607) | 2.06279996 |
| 78 | Osteomalacia (HP:0002749) | 2.05130127 |
| 79 | Amelogenesis imperfecta (HP:0000705) | 2.04781836 |
| 80 | Amblyopia (HP:0000646) | 2.04523246 |
| 81 | Abnormal drinking behavior (HP:0030082) | 2.03543793 |
| 82 | Polydipsia (HP:0001959) | 2.03543793 |
| 83 | Vertebral clefting (HP:0008428) | 2.03337768 |
| 84 | Mixed hearing impairment (HP:0000410) | 2.02816866 |
| 85 | Sensory axonal neuropathy (HP:0003390) | 2.02237211 |
| 86 | Progressive cerebellar ataxia (HP:0002073) | 1.98625270 |
| 87 | Spastic paraparesis (HP:0002313) | 1.97160474 |
| 88 | Bradycardia (HP:0001662) | 1.96830030 |
| 89 | Abnormality of dental color (HP:0011073) | 1.95397947 |
| 90 | Truncal obesity (HP:0001956) | 1.92492394 |
| 91 | Abnormal large intestine physiology (HP:0012700) | 1.91858419 |
| 92 | Pendular nystagmus (HP:0012043) | 1.89792346 |
| 93 | Short ribs (HP:0000773) | 1.87064452 |
| 94 | Hypoplastic left heart (HP:0004383) | 1.86559976 |
| 95 | Muscle fiber atrophy (HP:0100295) | 1.86075500 |
| 96 | Bulbous nose (HP:0000414) | 1.85850000 |
| 97 | Protuberant abdomen (HP:0001538) | 1.85809563 |
| 98 | Neoplasm of the heart (HP:0100544) | 1.82905352 |
| 99 | Abnormality of the renal medulla (HP:0100957) | 1.81867302 |
| 100 | Fatigable weakness (HP:0003473) | 1.81055825 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 7.38998728 |
| 2 | TESK1 | 6.82968790 |
| 3 | DDR2 | 6.05328252 |
| 4 | MAP4K2 | 4.93521688 |
| 5 | INSRR | 4.36332580 |
| 6 | PLK2 | 2.77519892 |
| 7 | BRD4 | 2.62694074 |
| 8 | STK38 | 2.54237231 |
| 9 | MAPK15 | 2.50818086 |
| 10 | WNK1 | 2.45400041 |
| 11 | MST1R | 2.02698000 |
| 12 | PNCK | 1.96407718 |
| 13 | CAMK1G | 1.84459944 |
| 14 | PRKD3 | 1.83505765 |
| 15 | STK38L | 1.64250663 |
| 16 | PDPK1 | 1.52352066 |
| 17 | CDK7 | 1.45653078 |
| 18 | CDK12 | 1.43032639 |
| 19 | PDK1 | 1.40856926 |
| 20 | PIK3CG | 1.38400616 |
| 21 | DYRK1B | 1.24949739 |
| 22 | WNK4 | 1.22981562 |
| 23 | KSR2 | 1.22722274 |
| 24 | MAP3K9 | 1.22434863 |
| 25 | PTK2B | 1.05519925 |
| 26 | LATS2 | 0.90800794 |
| 27 | UHMK1 | 0.88984414 |
| 28 | CAMK1D | 0.86727834 |
| 29 | PRKAA2 | 0.84855812 |
| 30 | NEK6 | 0.81622629 |
| 31 | RPS6KA2 | 0.78971881 |
| 32 | MUSK | 0.74062769 |
| 33 | MAP2K2 | 0.67734809 |
| 34 | MAP3K8 | 0.66550678 |
| 35 | BRAF | 0.65853394 |
| 36 | CDK4 | 0.65642418 |
| 37 | MAP3K11 | 0.65471494 |
| 38 | MAP3K2 | 0.65264378 |
| 39 | PRKG2 | 0.64233132 |
| 40 | RPS6KA1 | 0.62451406 |
| 41 | ROCK1 | 0.61835529 |
| 42 | MARK2 | 0.61133074 |
| 43 | CAMK1 | 0.58894405 |
| 44 | PRKG1 | 0.58595333 |
| 45 | CAMK4 | 0.47975172 |
| 46 | CDK3 | 0.47558029 |
| 47 | STK39 | 0.46963280 |
| 48 | AKT3 | 0.46330769 |
| 49 | ARAF | 0.46177728 |
| 50 | RPS6KC1 | 0.45257564 |
| 51 | RPS6KL1 | 0.45257564 |
| 52 | GSK3B | 0.43386968 |
| 53 | RPS6KA6 | 0.41904482 |
| 54 | MTOR | 0.40568568 |
| 55 | MAPK1 | 0.40432642 |
| 56 | CDK1 | 0.38716058 |
| 57 | CDK2 | 0.38615806 |
| 58 | PRKCZ | 0.37803055 |
| 59 | MET | 0.37428832 |
| 60 | SIK2 | 0.36836223 |
| 61 | MARK1 | 0.34429433 |
| 62 | LATS1 | 0.34069729 |
| 63 | BMPR1B | 0.33462693 |
| 64 | MAPK8 | 0.33144441 |
| 65 | PRKCG | 0.32759779 |
| 66 | CHEK1 | 0.28218969 |
| 67 | TIE1 | 0.27877854 |
| 68 | MAP3K1 | 0.27355380 |
| 69 | MAP3K7 | 0.26805734 |
| 70 | SGK494 | 0.24795130 |
| 71 | SGK223 | 0.24795130 |
| 72 | SGK1 | 0.21911495 |
| 73 | MAPK14 | 0.21089356 |
| 74 | AKT1 | 0.20675863 |
| 75 | MAPK10 | 0.20379057 |
| 76 | NTRK3 | 0.19945751 |
| 77 | BLK | 0.17538639 |
| 78 | MAPK11 | 0.17511294 |
| 79 | FRK | 0.16565649 |
| 80 | PRKCB | 0.16308477 |
| 81 | TYRO3 | 0.15670360 |
| 82 | ABL2 | 0.15451651 |
| 83 | PKN1 | 0.15361659 |
| 84 | IKBKB | 0.13452431 |
| 85 | PINK1 | 0.12910958 |
| 86 | FER | 0.12834814 |
| 87 | BRSK1 | 0.11512856 |
| 88 | MAP3K13 | 0.11210725 |
| 89 | MAPK9 | 0.10890427 |
| 90 | DYRK3 | 0.10788823 |
| 91 | PRKAA1 | 0.09833591 |
| 92 | MOS | 0.09228652 |
| 93 | ROCK2 | 0.08839398 |
| 94 | PRKACA | 0.07659828 |
| 95 | CHUK | 0.06004921 |
| 96 | DYRK2 | 0.05524965 |
| 97 | RPS6KA3 | 0.05229337 |
| 98 | CAMK2A | 0.05130470 |
| 99 | TESK2 | 0.05015212 |
| 100 | LMTK2 | 0.04544082 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 8.86786287 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 4.57950180 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.61338607 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.93313914 |
| 5 | Allograft rejection_Homo sapiens_hsa05330 | 2.62671013 |
| 6 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 2.52630445 |
| 7 | Graft-versus-host disease_Homo sapiens_hsa05332 | 2.41939017 |
| 8 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 2.40809406 |
| 9 | Antigen processing and presentation_Homo sapiens_hsa04612 | 2.09005439 |
| 10 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.82870406 |
| 11 | Taste transduction_Homo sapiens_hsa04742 | 1.81722429 |
| 12 | Viral myocarditis_Homo sapiens_hsa05416 | 1.81169737 |
| 13 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.80321972 |
| 14 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.78387137 |
| 15 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.74086466 |
| 16 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.70759685 |
| 17 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.60678264 |
| 18 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.25142137 |
| 19 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.24148001 |
| 20 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.23489585 |
| 21 | Endocytosis_Homo sapiens_hsa04144 | 1.22012869 |
| 22 | Salivary secretion_Homo sapiens_hsa04970 | 1.18535592 |
| 23 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.17207014 |
| 24 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.14116061 |
| 25 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.09656821 |
| 26 | RNA transport_Homo sapiens_hsa03013 | 1.08878072 |
| 27 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.04089834 |
| 28 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.03788690 |
| 29 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.02349581 |
| 30 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.99331094 |
| 31 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.97366379 |
| 32 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.89207389 |
| 33 | Influenza A_Homo sapiens_hsa05164 | 0.89140001 |
| 34 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.84761348 |
| 35 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.83715430 |
| 36 | Phototransduction_Homo sapiens_hsa04744 | 0.82838318 |
| 37 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.81854613 |
| 38 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.80452307 |
| 39 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.80384312 |
| 40 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.79363297 |
| 41 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.79086848 |
| 42 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.73033740 |
| 43 | Retinol metabolism_Homo sapiens_hsa00830 | 0.70384298 |
| 44 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.68457791 |
| 45 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.67670868 |
| 46 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.67370343 |
| 47 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.67067873 |
| 48 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.67054464 |
| 49 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.66563518 |
| 50 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.66181774 |
| 51 | Morphine addiction_Homo sapiens_hsa05032 | 0.60836530 |
| 52 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.59765554 |
| 53 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.54655714 |
| 54 | ABC transporters_Homo sapiens_hsa02010 | 0.54117753 |
| 55 | Insulin secretion_Homo sapiens_hsa04911 | 0.53031534 |
| 56 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.52389904 |
| 57 | Circadian entrainment_Homo sapiens_hsa04713 | 0.51464285 |
| 58 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.48704609 |
| 59 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.47142573 |
| 60 | Bile secretion_Homo sapiens_hsa04976 | 0.46773008 |
| 61 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.45394980 |
| 62 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.44939344 |
| 63 | Purine metabolism_Homo sapiens_hsa00230 | 0.44896931 |
| 64 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.44003497 |
| 65 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.41558605 |
| 66 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.40028811 |
| 67 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.39996620 |
| 68 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.38243618 |
| 69 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.36933528 |
| 70 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.36818020 |
| 71 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.36492570 |
| 72 | Renin secretion_Homo sapiens_hsa04924 | 0.36294671 |
| 73 | Tight junction_Homo sapiens_hsa04530 | 0.35547518 |
| 74 | Nicotine addiction_Homo sapiens_hsa05033 | 0.34942751 |
| 75 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.33120651 |
| 76 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.32796606 |
| 77 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.31724874 |
| 78 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.30556507 |
| 79 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.30274927 |
| 80 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.28187338 |
| 81 | Basal transcription factors_Homo sapiens_hsa03022 | 0.27776494 |
| 82 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.27324464 |
| 83 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.26424984 |
| 84 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.25377481 |
| 85 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.24938695 |
| 86 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.24776718 |
| 87 | Adherens junction_Homo sapiens_hsa04520 | 0.19844875 |
| 88 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.18601239 |
| 89 | Legionellosis_Homo sapiens_hsa05134 | 0.18306989 |
| 90 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.18264183 |
| 91 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.17828228 |
| 92 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.14506591 |
| 93 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.14498733 |
| 94 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.14434968 |
| 95 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.14367474 |
| 96 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.14237928 |
| 97 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.12981912 |
| 98 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.12818946 |
| 99 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.12641082 |
| 100 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.11755671 |

