

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | chromosome condensation (GO:0030261) | 9.19234556 |
| 2 | DNA packaging (GO:0006323) | 8.80348416 |
| 3 | protein targeting to Golgi (GO:0000042) | 8.68737490 |
| 4 | sperm capacitation (GO:0048240) | 8.67696071 |
| 5 | microtubule depolymerization (GO:0007019) | 8.32754017 |
| 6 | plasma membrane fusion (GO:0045026) | 8.30099434 |
| 7 | establishment of protein localization to Golgi (GO:0072600) | 8.30080673 |
| 8 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 8.13690879 |
| 9 | protein polyglutamylation (GO:0018095) | 7.62928490 |
| 10 | microtubule polymerization or depolymerization (GO:0031109) | 7.54951064 |
| 11 | spermatid development (GO:0007286) | 7.52310888 |
| 12 | single strand break repair (GO:0000012) | 7.30308020 |
| 13 | rRNA methylation (GO:0031167) | 7.24213558 |
| 14 | spermatid nucleus differentiation (GO:0007289) | 7.20054601 |
| 15 | sperm-egg recognition (GO:0035036) | 6.93376607 |
| 16 | response to pheromone (GO:0019236) | 6.77949013 |
| 17 | centriole replication (GO:0007099) | 6.68467560 |
| 18 | spermatogenesis (GO:0007283) | 6.44306896 |
| 19 | multicellular organism reproduction (GO:0032504) | 6.43369079 |
| 20 | male gamete generation (GO:0048232) | 6.42026408 |
| 21 | calcium ion-dependent exocytosis (GO:0017156) | 6.36691210 |
| 22 | binding of sperm to zona pellucida (GO:0007339) | 6.31140142 |
| 23 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.25835423 |
| 24 | protein localization to Golgi apparatus (GO:0034067) | 6.22039885 |
| 25 | reproduction (GO:0000003) | 6.13406172 |
| 26 | sexual reproduction (GO:0019953) | 6.11612612 |
| 27 | axonemal dynein complex assembly (GO:0070286) | 5.99989422 |
| 28 | rRNA modification (GO:0000154) | 5.99384130 |
| 29 | negative regulation of inclusion body assembly (GO:0090084) | 5.89392185 |
| 30 | centriole assembly (GO:0098534) | 5.89226807 |
| 31 | gamete generation (GO:0007276) | 5.89188897 |
| 32 | seminiferous tubule development (GO:0072520) | 5.88927685 |
| 33 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.78732520 |
| 34 | regulation of centriole replication (GO:0046599) | 5.76091126 |
| 35 | microtubule severing (GO:0051013) | 5.74669899 |
| 36 | cell-cell recognition (GO:0009988) | 5.68322252 |
| 37 | single fertilization (GO:0007338) | 5.10923235 |
| 38 | glomerular visceral epithelial cell development (GO:0072015) | 5.00644170 |
| 39 | RNA destabilization (GO:0050779) | 5.00490178 |
| 40 | regulation of Rab GTPase activity (GO:0032313) | 4.97362445 |
| 41 | positive regulation of Rab GTPase activity (GO:0032851) | 4.97362445 |
| 42 | motile cilium assembly (GO:0044458) | 4.91689850 |
| 43 | regulation of cilium movement (GO:0003352) | 4.89713542 |
| 44 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.88206996 |
| 45 | multicellular organismal reproductive process (GO:0048609) | 4.71381497 |
| 46 | glomerular epithelial cell development (GO:0072310) | 4.69366861 |
| 47 | microtubule nucleation (GO:0007020) | 4.58435248 |
| 48 | fertilization (GO:0009566) | 4.48755334 |
| 49 | cell wall macromolecule catabolic process (GO:0016998) | 4.47269611 |
| 50 | nucleus organization (GO:0006997) | 4.36485172 |
| 51 | germ cell development (GO:0007281) | 4.35508037 |
| 52 | multicellular organismal movement (GO:0050879) | 4.31657276 |
| 53 | musculoskeletal movement (GO:0050881) | 4.31657276 |
| 54 | cell wall macromolecule metabolic process (GO:0044036) | 4.28637044 |
| 55 | epithelial cilium movement (GO:0003351) | 4.21343918 |
| 56 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.20556754 |
| 57 | nuclear pore complex assembly (GO:0051292) | 4.19913212 |
| 58 | regulation of inclusion body assembly (GO:0090083) | 4.17827600 |
| 59 | cellular ketone body metabolic process (GO:0046950) | 4.13521118 |
| 60 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.11700802 |
| 61 | chromatin silencing (GO:0006342) | 4.02834049 |
| 62 | glycerol ether metabolic process (GO:0006662) | 3.84693014 |
| 63 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 3.79399478 |
| 64 | cilium movement (GO:0003341) | 3.72671906 |
| 65 | ketone body metabolic process (GO:1902224) | 3.70831110 |
| 66 | ether metabolic process (GO:0018904) | 3.53175069 |
| 67 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.51763899 |
| 68 | intra-Golgi vesicle-mediated transport (GO:0006891) | 3.41407390 |
| 69 | protein depolymerization (GO:0051261) | 3.38214312 |
| 70 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.23232768 |
| 71 | Golgi to endosome transport (GO:0006895) | 3.21396413 |
| 72 | organic cation transport (GO:0015695) | 3.20402422 |
| 73 | histone H3-K9 demethylation (GO:0033169) | 3.19707630 |
| 74 | pore complex assembly (GO:0046931) | 3.16385059 |
| 75 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.15551624 |
| 76 | receptor recycling (GO:0001881) | 3.14654799 |
| 77 | regulation of microtubule-based movement (GO:0060632) | 3.13479242 |
| 78 | nuclear pore organization (GO:0006999) | 3.13059481 |
| 79 | regulation of interleukin-13 production (GO:0032656) | 3.11638174 |
| 80 | homeostasis of number of cells within a tissue (GO:0048873) | 3.06111987 |
| 81 | cerebral cortex neuron differentiation (GO:0021895) | 3.02307099 |
| 82 | coenzyme catabolic process (GO:0009109) | 3.00259084 |
| 83 | protein-DNA complex disassembly (GO:0032986) | 2.99409203 |
| 84 | nucleosome disassembly (GO:0006337) | 2.99409203 |
| 85 | vesicle transport along microtubule (GO:0047496) | 2.99397484 |
| 86 | RNA localization (GO:0006403) | 2.97661345 |
| 87 | cellular response to pH (GO:0071467) | 2.96950258 |
| 88 | ventricular system development (GO:0021591) | 2.96499143 |
| 89 | multicellular organismal development (GO:0007275) | 2.95703190 |
| 90 | regulation of T-helper 2 cell differentiation (GO:0045628) | 2.93210951 |
| 91 | polyamine biosynthetic process (GO:0006596) | 2.92909640 |
| 92 | mitotic G1 DNA damage checkpoint (GO:0031571) | 2.88086512 |
| 93 | response to acidic pH (GO:0010447) | 2.85656089 |
| 94 | centrosome duplication (GO:0051298) | 2.84682061 |
| 95 | regulation of ARF GTPase activity (GO:0032312) | 2.80854542 |
| 96 | cell recognition (GO:0008037) | 2.78836757 |
| 97 | DNA conformation change (GO:0071103) | 2.78647998 |
| 98 | sperm motility (GO:0030317) | 11.8614813 |
| 99 | acrosome reaction (GO:0007340) | 11.1226563 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.9326959 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 5.43407849 |
| 2 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 3.91234800 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.76533403 |
| 4 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.44654364 |
| 5 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.44654364 |
| 6 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.24219320 |
| 7 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.19817907 |
| 8 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.19817907 |
| 9 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.18595614 |
| 10 | FUS_26573619_Chip-Seq_HEK293_Human | 2.05157279 |
| 11 | DROSHA_22980978_ChIP-Seq_HELA_Human | 2.04681809 |
| 12 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.00509597 |
| 13 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.98319340 |
| 14 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.90977979 |
| 15 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.88131649 |
| 16 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.87086541 |
| 17 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.83011645 |
| 18 | ERA_21632823_ChIP-Seq_H3396_Human | 1.72320480 |
| 19 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.65803561 |
| 20 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.65686857 |
| 21 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.61676140 |
| 22 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.61212695 |
| 23 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.60213161 |
| 24 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.57851396 |
| 25 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.54761104 |
| 26 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.53554189 |
| 27 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.51777580 |
| 28 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.51003604 |
| 29 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.50980977 |
| 30 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.50795357 |
| 31 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.49498974 |
| 32 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.48229693 |
| 33 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.44928746 |
| 34 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.44650541 |
| 35 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.43480732 |
| 36 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.42840003 |
| 37 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.41432796 |
| 38 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.40699965 |
| 39 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.40516934 |
| 40 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.39641484 |
| 41 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.39284239 |
| 42 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.39221713 |
| 43 | P68_20966046_ChIP-Seq_HELA_Human | 1.38248106 |
| 44 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.36248232 |
| 45 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.35521837 |
| 46 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.34969171 |
| 47 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.34055411 |
| 48 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.33668051 |
| 49 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.33378781 |
| 50 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.31863873 |
| 51 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.31298923 |
| 52 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.31025983 |
| 53 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.30789243 |
| 54 | AR_25329375_ChIP-Seq_VCAP_Human | 1.29981827 |
| 55 | NFYB_21822215_ChIP-Seq_K562_Human | 1.29431384 |
| 56 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.28032316 |
| 57 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.28017648 |
| 58 | TBL1_22424771_ChIP-Seq_293T_Human | 1.27186880 |
| 59 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.24397895 |
| 60 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.23555007 |
| 61 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.23413180 |
| 62 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.21667924 |
| 63 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.19841329 |
| 64 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.19702384 |
| 65 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.19624555 |
| 66 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.18841515 |
| 67 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.18398908 |
| 68 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.17659818 |
| 69 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.14714095 |
| 70 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.13746751 |
| 71 | P300_19829295_ChIP-Seq_ESCs_Human | 1.13726936 |
| 72 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.13720651 |
| 73 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.13400567 |
| 74 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.12394776 |
| 75 | P300_27268052_Chip-Seq_Bcells_Human | 1.12058054 |
| 76 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.10801629 |
| 77 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.10494607 |
| 78 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.09553612 |
| 79 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.08657624 |
| 80 | SA1_27219007_Chip-Seq_Bcells_Human | 1.08140957 |
| 81 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.08083910 |
| 82 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.07716586 |
| 83 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.06041613 |
| 84 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.05839889 |
| 85 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.05231256 |
| 86 | NFYA_21822215_ChIP-Seq_K562_Human | 1.04446999 |
| 87 | STAT3_23295773_ChIP-Seq_U87_Human | 1.03891757 |
| 88 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.03140318 |
| 89 | KLF5_25053715_ChIP-Seq_YYC3_Human | 1.02649012 |
| 90 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.02403503 |
| 91 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.00879474 |
| 92 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.00559060 |
| 93 | KLF4_19829295_ChIP-Seq_ESCs_Human | 0.99715538 |
| 94 | AR_21572438_ChIP-Seq_LNCaP_Human | 0.99130347 |
| 95 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 0.98475711 |
| 96 | RUNX2_22187159_ChIP-Seq_PCA_Human | 0.98466944 |
| 97 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.97996145 |
| 98 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 0.96929298 |
| 99 | GF1_26923725_Chip-Seq_HPCs_Mouse | 0.96357775 |
| 100 | SMRT_27268052_Chip-Seq_Bcells_Human | 0.96148458 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005377_hearing/vestibular/ear_phenot | 6.00372468 |
| 2 | MP0003878_abnormal_ear_physiology | 6.00372468 |
| 3 | MP0005670_abnormal_white_adipose | 4.87404509 |
| 4 | MP0003698_abnormal_male_reproductive | 4.24426724 |
| 5 | MP0001348_abnormal_lacrimal_gland | 3.82863677 |
| 6 | MP0001929_abnormal_gametogenesis | 3.69514729 |
| 7 | MP0005451_abnormal_body_composition | 2.46742258 |
| 8 | MP0002161_abnormal_fertility/fecundity | 2.35028678 |
| 9 | MP0003646_muscle_fatigue | 2.29284943 |
| 10 | MP0005410_abnormal_fertilization | 11.6400642 |
| 11 | MP0000678_abnormal_parathyroid_gland | 1.97979180 |
| 12 | MP0003718_maternal_effect | 1.89274962 |
| 13 | MP0001485_abnormal_pinna_reflex | 1.86126048 |
| 14 | MP0005379_endocrine/exocrine_gland_phen | 1.85144419 |
| 15 | MP0003879_abnormal_hair_cell | 1.83738527 |
| 16 | MP0005423_abnormal_somatic_nervous | 1.80934716 |
| 17 | MP0003011_delayed_dark_adaptation | 1.76516753 |
| 18 | MP0001486_abnormal_startle_reflex | 1.75410473 |
| 19 | MP0002132_abnormal_respiratory_system | 1.69271425 |
| 20 | MP0005310_abnormal_salivary_gland | 1.67079024 |
| 21 | MP0004859_abnormal_synaptic_plasticity | 1.66626945 |
| 22 | MP0002210_abnormal_sex_determination | 1.60645023 |
| 23 | MP0004742_abnormal_vestibular_system | 1.38023033 |
| 24 | MP0001145_abnormal_male_reproductive | 1.30432064 |
| 25 | MP0002282_abnormal_trachea_morphology | 1.29754778 |
| 26 | MP0004510_myositis | 1.25087624 |
| 27 | MP0002249_abnormal_larynx_morphology | 1.22323133 |
| 28 | MP0000653_abnormal_sex_gland | 1.21786975 |
| 29 | MP0001963_abnormal_hearing_physiology | 1.19938902 |
| 30 | MP0005666_abnormal_adipose_tissue | 1.15239717 |
| 31 | MP0001765_abnormal_ion_homeostasis | 1.13178951 |
| 32 | MP0009115_abnormal_fat_cell | 1.10539745 |
| 33 | MP0000534_abnormal_ureter_morphology | 1.08239702 |
| 34 | MP0005248_abnormal_Harderian_gland | 1.06165994 |
| 35 | MP0009053_abnormal_anal_canal | 1.03180798 |
| 36 | MP0002822_catalepsy | 1.00935809 |
| 37 | MP0002234_abnormal_pharynx_morphology | 0.98790439 |
| 38 | MP0002127_abnormal_cardiovascular_syste | 0.98073682 |
| 39 | MP0004233_abnormal_muscle_weight | 0.96368040 |
| 40 | MP0000026_abnormal_inner_ear | 0.92129993 |
| 41 | MP0002735_abnormal_chemical_nociception | 0.89040715 |
| 42 | MP0002138_abnormal_hepatobiliary_system | 0.88268683 |
| 43 | MP0008569_lethality_at_weaning | 0.87047783 |
| 44 | MP0001984_abnormal_olfaction | 0.85287372 |
| 45 | MP0005375_adipose_tissue_phenotype | 0.84889474 |
| 46 | MP0002229_neurodegeneration | 0.84610352 |
| 47 | MP0000955_abnormal_spinal_cord | 0.84541301 |
| 48 | MP0005395_other_phenotype | 0.84459229 |
| 49 | MP0005167_abnormal_blood-brain_barrier | 0.80300263 |
| 50 | MP0005551_abnormal_eye_electrophysiolog | 0.79869147 |
| 51 | MP0004036_abnormal_muscle_relaxation | 0.79327317 |
| 52 | MP0005083_abnormal_biliary_tract | 0.79293460 |
| 53 | MP0002067_abnormal_sensory_capabilities | 0.78109094 |
| 54 | MP0005253_abnormal_eye_physiology | 0.75672727 |
| 55 | MP0009697_abnormal_copulation | 0.75669037 |
| 56 | MP0001968_abnormal_touch/_nociception | 0.73776510 |
| 57 | MP0004084_abnormal_cardiac_muscle | 0.73328143 |
| 58 | MP0005408_hypopigmentation | 0.70347286 |
| 59 | MP0004085_abnormal_heartbeat | 0.69006394 |
| 60 | MP0000681_abnormal_thyroid_gland | 0.61973865 |
| 61 | MP0002572_abnormal_emotion/affect_behav | 0.61812845 |
| 62 | MP0002557_abnormal_social/conspecific_i | 0.61371681 |
| 63 | MP0000003_abnormal_adipose_tissue | 0.61116924 |
| 64 | MP0003329_amyloid_beta_deposits | 0.60526520 |
| 65 | MP0002733_abnormal_thermal_nociception | 0.60136935 |
| 66 | MP0005623_abnormal_meninges_morphology | 0.59804930 |
| 67 | MP0008877_abnormal_DNA_methylation | 0.56879447 |
| 68 | MP0005636_abnormal_mineral_homeostasis | 0.56404105 |
| 69 | MP0005535_abnormal_body_temperature | 0.55185049 |
| 70 | MP0003137_abnormal_impulse_conducting | 0.53079378 |
| 71 | MP0010329_abnormal_lipoprotein_level | 0.52183707 |
| 72 | MP0001440_abnormal_grooming_behavior | 0.50409782 |
| 73 | MP0004484_altered_response_of | 0.49433102 |
| 74 | MP0000230_abnormal_systemic_arterial | 0.48070044 |
| 75 | MP0002269_muscular_atrophy | 0.47630876 |
| 76 | MP0001666_abnormal_nutrient_absorption | 0.46642395 |
| 77 | MP0001905_abnormal_dopamine_level | 0.45372475 |
| 78 | MP0003077_abnormal_cell_cycle | 0.43297587 |
| 79 | MP0005397_hematopoietic_system_phenotyp | 0.42820286 |
| 80 | MP0001545_abnormal_hematopoietic_system | 0.42820286 |
| 81 | MP0003631_nervous_system_phenotype | 0.42432917 |
| 82 | MP0008995_early_reproductive_senescence | 0.42386588 |
| 83 | MP0008961_abnormal_basal_metabolism | 0.42330850 |
| 84 | MP0002272_abnormal_nervous_system | 0.42182202 |
| 85 | MP0003172_abnormal_lysosome_physiology | 0.42081383 |
| 86 | MP0002734_abnormal_mechanical_nocicepti | 0.42065611 |
| 87 | MP0001879_abnormal_lymphatic_vessel | 0.40974010 |
| 88 | MP0003635_abnormal_synaptic_transmissio | 0.39365087 |
| 89 | MP0004782_abnormal_surfactant_physiolog | 0.39220372 |
| 90 | MP0000249_abnormal_blood_vessel | 0.38113587 |
| 91 | MP0009745_abnormal_behavioral_response | 0.37830964 |
| 92 | MP0001501_abnormal_sleep_pattern | 0.37337376 |
| 93 | MP0001970_abnormal_pain_threshold | 0.37225475 |
| 94 | MP0000049_abnormal_middle_ear | 0.35852217 |
| 95 | MP0005332_abnormal_amino_acid | 0.35651420 |
| 96 | MP0003633_abnormal_nervous_system | 0.35382944 |
| 97 | MP0001270_distended_abdomen | 0.33999696 |
| 98 | MP0005595_abnormal_vascular_smooth | 0.33432091 |
| 99 | MP0003091_abnormal_cell_migration | 0.33382483 |
| 100 | MP0000516_abnormal_urinary_system | 0.33112974 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 7.16999652 |
| 2 | Asymmetric septal hypertrophy (HP:0001670) | 6.69289976 |
| 3 | Tubulointerstitial nephritis (HP:0001970) | 6.59871421 |
| 4 | Chronic hepatic failure (HP:0100626) | 6.02257694 |
| 5 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.99236480 |
| 6 | Absent/shortened dynein arms (HP:0200106) | 5.99236480 |
| 7 | Resting tremor (HP:0002322) | 4.75492980 |
| 8 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.72149016 |
| 9 | Cone-rod dystrophy (HP:0000548) | 4.65932355 |
| 10 | Male infertility (HP:0003251) | 4.60644369 |
| 11 | Hyperkalemia (HP:0002153) | 4.51764930 |
| 12 | Nasal polyposis (HP:0100582) | 4.49379110 |
| 13 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.43092545 |
| 14 | Abnormal ciliary motility (HP:0012262) | 4.40899411 |
| 15 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.32446178 |
| 16 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.26348995 |
| 17 | Attenuation of retinal blood vessels (HP:0007843) | 4.17234234 |
| 18 | Hypoalphalipoproteinemia (HP:0003233) | 4.14633582 |
| 19 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.02676380 |
| 20 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.02676380 |
| 21 | Abnormality of macular pigmentation (HP:0008002) | 4.02078683 |
| 22 | Infertility (HP:0000789) | 4.01544946 |
| 23 | Menstrual irregularities (HP:0000858) | 4.00520116 |
| 24 | Progressive sensorineural hearing impairment (HP:0000408) | 3.96194758 |
| 25 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.87283500 |
| 26 | Abnormality of the nasal mucosa (HP:0000433) | 3.70575358 |
| 27 | Bell-shaped thorax (HP:0001591) | 3.69767358 |
| 28 | Hypoplasia of the thymus (HP:0000778) | 3.68207360 |
| 29 | Renovascular hypertension (HP:0100817) | 3.58841877 |
| 30 | Potter facies (HP:0002009) | 3.53681372 |
| 31 | Facial shape deformation (HP:0011334) | 3.53681372 |
| 32 | Amelogenesis imperfecta (HP:0000705) | 3.42013435 |
| 33 | Postural instability (HP:0002172) | 3.33562449 |
| 34 | Impulsivity (HP:0100710) | 3.29002805 |
| 35 | Truncal obesity (HP:0001956) | 3.27974176 |
| 36 | Abnormality of dental color (HP:0011073) | 3.27817691 |
| 37 | Enlarged epiphyses (HP:0010580) | 3.18355317 |
| 38 | Insulin-resistant diabetes mellitus (HP:0000831) | 3.17910358 |
| 39 | Progressive cerebellar ataxia (HP:0002073) | 3.11718995 |
| 40 | Stage 5 chronic kidney disease (HP:0003774) | 3.05784767 |
| 41 | Portal hypertension (HP:0001409) | 3.03347615 |
| 42 | Tubulointerstitial abnormality (HP:0001969) | 3.00984651 |
| 43 | Hypoplastic ischia (HP:0003175) | 2.99683393 |
| 44 | Abnormality of the hepatic vasculature (HP:0006707) | 2.77930663 |
| 45 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.74539726 |
| 46 | Abnormality of the ischium (HP:0003174) | 2.73489586 |
| 47 | Abnormal spermatogenesis (HP:0008669) | 2.73226036 |
| 48 | Progressive hearing impairment (HP:0001730) | 2.64629152 |
| 49 | Abnormality of the costochondral junction (HP:0000919) | 2.60564070 |
| 50 | Focal segmental glomerulosclerosis (HP:0000097) | 2.59397175 |
| 51 | Increased purine levels (HP:0004368) | 2.58386961 |
| 52 | Hyperuricemia (HP:0002149) | 2.58386961 |
| 53 | Rhinitis (HP:0012384) | 2.57785559 |
| 54 | Ventricular tachycardia (HP:0004756) | 2.55853640 |
| 55 | Intellectual disability, moderate (HP:0002342) | 2.54428404 |
| 56 | Subcapsular cataract (HP:0000523) | 2.48220989 |
| 57 | Abnormal urine output (HP:0012590) | 2.41354746 |
| 58 | Abnormality of potassium homeostasis (HP:0011042) | 2.40974229 |
| 59 | Nephronophthisis (HP:0000090) | 2.40750660 |
| 60 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.35135256 |
| 61 | Myokymia (HP:0002411) | 2.32099347 |
| 62 | Azoospermia (HP:0000027) | 2.22673066 |
| 63 | Chronic bronchitis (HP:0004469) | 2.22585956 |
| 64 | Abnormality of the aortic arch (HP:0012303) | 2.19773781 |
| 65 | Generalized aminoaciduria (HP:0002909) | 2.19136177 |
| 66 | Osteomalacia (HP:0002749) | 2.19088962 |
| 67 | Polydipsia (HP:0001959) | 2.15777861 |
| 68 | Abnormal drinking behavior (HP:0030082) | 2.15777861 |
| 69 | Unilateral renal agenesis (HP:0000122) | 2.14719201 |
| 70 | Glomerulosclerosis (HP:0000096) | 2.11576315 |
| 71 | Abnormality of the renal medulla (HP:0100957) | 2.08412734 |
| 72 | Hypolipoproteinemia (HP:0010981) | 2.08346318 |
| 73 | Abnormality of renal excretion (HP:0011036) | 2.06076398 |
| 74 | Flattened epiphyses (HP:0003071) | 2.04065833 |
| 75 | Recurrent pneumonia (HP:0006532) | 1.98511929 |
| 76 | Bradycardia (HP:0001662) | 1.97844973 |
| 77 | Hypophosphatemic rickets (HP:0004912) | 1.96528773 |
| 78 | Sandal gap (HP:0001852) | 1.94824066 |
| 79 | Congenital malformation of the right heart (HP:0011723) | 1.93348000 |
| 80 | Double outlet right ventricle (HP:0001719) | 1.93348000 |
| 81 | Insulin resistance (HP:0000855) | 1.90967083 |
| 82 | Hyponatremia (HP:0002902) | 1.88791683 |
| 83 | Widely patent fontanelles and sutures (HP:0004492) | 1.86988350 |
| 84 | Polyuria (HP:0000103) | 1.86351941 |
| 85 | Bronchiectasis (HP:0002110) | 1.85047840 |
| 86 | Renal dysplasia (HP:0000110) | 1.82580598 |
| 87 | Gingivitis (HP:0000230) | 1.82036899 |
| 88 | Obsessive-compulsive behavior (HP:0000722) | 1.81108781 |
| 89 | Upper limb muscle weakness (HP:0003484) | 1.78352910 |
| 90 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.74381958 |
| 91 | Abnormality of purine metabolism (HP:0004352) | 1.74347749 |
| 92 | Hypoalbuminemia (HP:0003073) | 1.74097633 |
| 93 | Abnormal albumin level (HP:0012116) | 1.74097633 |
| 94 | Abnormality of the parathyroid morphology (HP:0011766) | 1.73534685 |
| 95 | Acanthosis nigricans (HP:0000956) | 1.73017948 |
| 96 | Epiphyseal dysplasia (HP:0002656) | 1.66256504 |
| 97 | Neoplasm of the heart (HP:0100544) | 1.64777273 |
| 98 | Recurrent corneal erosions (HP:0000495) | 1.64445753 |
| 99 | Abnormality of femoral epiphyses (HP:0006499) | 1.63706263 |
| 100 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 1.63706263 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 9.64124315 |
| 2 | TESK1 | 4.73060740 |
| 3 | INSRR | 4.57935833 |
| 4 | BRD4 | 4.42406316 |
| 5 | PLK2 | 3.69744592 |
| 6 | DDR2 | 3.67846857 |
| 7 | PNCK | 3.08614201 |
| 8 | CAMK1G | 2.60179219 |
| 9 | STK38 | 2.56640442 |
| 10 | PIK3CG | 2.55331575 |
| 11 | MAP4K2 | 2.41800285 |
| 12 | PRKD3 | 2.13986183 |
| 13 | STK38L | 1.88671009 |
| 14 | TYRO3 | 1.85153829 |
| 15 | CDK12 | 1.74290884 |
| 16 | MAPK15 | 1.66516063 |
| 17 | PDK1 | 1.60385719 |
| 18 | PDPK1 | 1.59982578 |
| 19 | NEK6 | 1.58651427 |
| 20 | WNK1 | 1.49969848 |
| 21 | MST1R | 1.41190003 |
| 22 | DYRK1B | 1.30524471 |
| 23 | PTK2B | 1.21857034 |
| 24 | CAMK1D | 1.08747589 |
| 25 | KSR2 | 1.06937898 |
| 26 | CDK7 | 0.99406933 |
| 27 | AKT3 | 0.93847587 |
| 28 | SIK2 | 0.88524828 |
| 29 | MAP3K11 | 0.75344737 |
| 30 | LATS2 | 0.74641452 |
| 31 | TIE1 | 0.73368608 |
| 32 | MAP3K9 | 0.71251374 |
| 33 | PRKG2 | 0.70870188 |
| 34 | MARK1 | 0.70195067 |
| 35 | BRAF | 0.65509496 |
| 36 | UHMK1 | 0.60748922 |
| 37 | CAMK1 | 0.60596677 |
| 38 | PRKAA2 | 0.57567984 |
| 39 | PRKG1 | 0.56412978 |
| 40 | RPS6KA2 | 0.56238828 |
| 41 | MAP3K2 | 0.52201647 |
| 42 | NTRK3 | 0.51859188 |
| 43 | CDK3 | 0.50328363 |
| 44 | MAP2K2 | 0.48560115 |
| 45 | SGK494 | 0.45443117 |
| 46 | SGK223 | 0.45443117 |
| 47 | MARK2 | 0.43486564 |
| 48 | RPS6KA1 | 0.42320457 |
| 49 | BRSK1 | 0.41463960 |
| 50 | LATS1 | 0.40814641 |
| 51 | MAP3K1 | 0.40227375 |
| 52 | CAMK4 | 0.39193922 |
| 53 | CDK2 | 0.39132629 |
| 54 | MAPK1 | 0.38737981 |
| 55 | GSK3B | 0.38697596 |
| 56 | ROCK1 | 0.37581081 |
| 57 | CDK1 | 0.37304981 |
| 58 | MTOR | 0.36900932 |
| 59 | RIPK4 | 0.36880118 |
| 60 | JAK3 | 0.36323271 |
| 61 | MAP3K8 | 0.33107152 |
| 62 | ICK | 0.29764847 |
| 63 | MAPK8 | 0.29177090 |
| 64 | SGK1 | 0.28830903 |
| 65 | MAPK10 | 0.26719832 |
| 66 | ARAF | 0.25933329 |
| 67 | PRKCZ | 0.25771207 |
| 68 | PRKCG | 0.24743706 |
| 69 | BLK | 0.24576518 |
| 70 | MAP3K7 | 0.22926374 |
| 71 | RPS6KL1 | 0.22514014 |
| 72 | RPS6KC1 | 0.22514014 |
| 73 | MAPK11 | 0.22144936 |
| 74 | PRKCB | 0.20460412 |
| 75 | MUSK | 0.20163644 |
| 76 | MAPK14 | 0.19581542 |
| 77 | CHEK1 | 0.19329402 |
| 78 | SGK2 | 0.19126740 |
| 79 | MAP3K4 | 0.18431511 |
| 80 | WNK4 | 0.18303676 |
| 81 | CDK4 | 0.17112649 |
| 82 | RPS6KA6 | 0.16264686 |
| 83 | STK39 | 0.14749855 |
| 84 | MET | 0.14195503 |
| 85 | MAP3K13 | 0.13040552 |
| 86 | AKT1 | 0.13026603 |
| 87 | SGK3 | 0.12984158 |
| 88 | RIPK1 | 0.12349929 |
| 89 | TESK2 | 0.11411964 |
| 90 | PRKAA1 | 0.09630827 |
| 91 | PKN1 | 0.08769268 |
| 92 | PRKACB | 0.08168534 |
| 93 | MAP2K1 | 0.08013336 |
| 94 | NEK2 | 0.07612837 |
| 95 | OBSCN | 0.06782894 |
| 96 | MAPK9 | 0.06655377 |
| 97 | PRKACA | 0.05311738 |
| 98 | RPS6KA3 | 0.04886288 |
| 99 | CAMK2A | 0.03911186 |
| 100 | BRSK2 | 0.03854741 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 6.75199211 |
| 2 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 5.86889060 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.72610549 |
| 4 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 2.72545105 |
| 5 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 2.19187606 |
| 6 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.99852748 |
| 7 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.84285978 |
| 8 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.79230596 |
| 9 | RNA transport_Homo sapiens_hsa03013 | 1.74246317 |
| 10 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.70209950 |
| 11 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.67968350 |
| 12 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.67613407 |
| 13 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.65213546 |
| 14 | Taste transduction_Homo sapiens_hsa04742 | 1.61860051 |
| 15 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.55351400 |
| 16 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.37387458 |
| 17 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.28822674 |
| 18 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.23216386 |
| 19 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.21038589 |
| 20 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.20154334 |
| 21 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.18470211 |
| 22 | Endocytosis_Homo sapiens_hsa04144 | 1.09546999 |
| 23 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.09190042 |
| 24 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 1.07846511 |
| 25 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.07687730 |
| 26 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.05255690 |
| 27 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 1.03933707 |
| 28 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.02356380 |
| 29 | VEGF signaling pathway_Homo sapiens_hsa04370 | 1.02231161 |
| 30 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.01806806 |
| 31 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.01039552 |
| 32 | Viral myocarditis_Homo sapiens_hsa05416 | 0.99912684 |
| 33 | Salivary secretion_Homo sapiens_hsa04970 | 0.99525736 |
| 34 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.96196043 |
| 35 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.93511558 |
| 36 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.93494267 |
| 37 | Morphine addiction_Homo sapiens_hsa05032 | 0.92261535 |
| 38 | ABC transporters_Homo sapiens_hsa02010 | 0.90554806 |
| 39 | Allograft rejection_Homo sapiens_hsa05330 | 0.90238377 |
| 40 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.89918353 |
| 41 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.88571984 |
| 42 | Influenza A_Homo sapiens_hsa05164 | 0.87019804 |
| 43 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.87012068 |
| 44 | Long-term potentiation_Homo sapiens_hsa04720 | 0.85119472 |
| 45 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.83591472 |
| 46 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.82064663 |
| 47 | Nicotine addiction_Homo sapiens_hsa05033 | 0.81276524 |
| 48 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.78935116 |
| 49 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.77169130 |
| 50 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.76865509 |
| 51 | Phototransduction_Homo sapiens_hsa04744 | 0.76585590 |
| 52 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.76553996 |
| 53 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.75359504 |
| 54 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.75257209 |
| 55 | Circadian entrainment_Homo sapiens_hsa04713 | 0.75050742 |
| 56 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.70792170 |
| 57 | Renin secretion_Homo sapiens_hsa04924 | 0.69883175 |
| 58 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.68719115 |
| 59 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.66932353 |
| 60 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.66568206 |
| 61 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.65365925 |
| 62 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.62579839 |
| 63 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.62425668 |
| 64 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.61953823 |
| 65 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.60449365 |
| 66 | Bile secretion_Homo sapiens_hsa04976 | 0.59579742 |
| 67 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.58239669 |
| 68 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.55234161 |
| 69 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.54043667 |
| 70 | Insulin secretion_Homo sapiens_hsa04911 | 0.53892457 |
| 71 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.52040232 |
| 72 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.51863752 |
| 73 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.51189165 |
| 74 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.50789733 |
| 75 | GABAergic synapse_Homo sapiens_hsa04727 | 0.48223714 |
| 76 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.46953498 |
| 77 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.46688165 |
| 78 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.45559171 |
| 79 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.45358909 |
| 80 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.42779999 |
| 81 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.42724943 |
| 82 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.41621602 |
| 83 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.39599489 |
| 84 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.39144700 |
| 85 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.37595675 |
| 86 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.35706063 |
| 87 | Tight junction_Homo sapiens_hsa04530 | 0.34969669 |
| 88 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.34314801 |
| 89 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.33666678 |
| 90 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.33538641 |
| 91 | Carbon metabolism_Homo sapiens_hsa01200 | 0.33495885 |
| 92 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 0.33457516 |
| 93 | Adherens junction_Homo sapiens_hsa04520 | 0.33428677 |
| 94 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.31661817 |
| 95 | Retinol metabolism_Homo sapiens_hsa00830 | 0.30475034 |
| 96 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.29914384 |
| 97 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.29774585 |
| 98 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.28761388 |
| 99 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.26714372 |
| 100 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.24930975 |

