

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | synaptonemal complex assembly (GO:0007130) | 8.85498048 |
| 2 | chromosome organization involved in meiosis (GO:0070192) | 8.51140166 |
| 3 | synaptonemal complex organization (GO:0070193) | 7.96030188 |
| 4 | synapsis (GO:0007129) | 7.95411633 |
| 5 | male meiosis I (GO:0007141) | 6.84220583 |
| 6 | piRNA metabolic process (GO:0034587) | 6.47649318 |
| 7 | meiosis I (GO:0007127) | 5.88365449 |
| 8 | male meiosis (GO:0007140) | 5.86389803 |
| 9 | negative regulation of mast cell activation (GO:0033004) | 5.04410790 |
| 10 | DNA methylation involved in gamete generation (GO:0043046) | 5.02987375 |
| 11 | DNA synthesis involved in DNA repair (GO:0000731) | 5.01535736 |
| 12 | mature B cell differentiation involved in immune response (GO:0002313) | 4.96351857 |
| 13 | meiotic nuclear division (GO:0007126) | 4.93308447 |
| 14 | vitamin catabolic process (GO:0009111) | 4.89798381 |
| 15 | fat-soluble vitamin catabolic process (GO:0042363) | 4.89798381 |
| 16 | polarized epithelial cell differentiation (GO:0030859) | 4.88741444 |
| 17 | meiotic cell cycle process (GO:1903046) | 4.63709303 |
| 18 | mature B cell differentiation (GO:0002335) | 4.28186020 |
| 19 | reciprocal DNA recombination (GO:0035825) | 4.21213455 |
| 20 | reciprocal meiotic recombination (GO:0007131) | 4.21213455 |
| 21 | regulation of female receptivity (GO:0045924) | 4.18417923 |
| 22 | respiratory tube development (GO:0030323) | 4.01192673 |
| 23 | sister chromatid cohesion (GO:0007062) | 3.91056641 |
| 24 | regulation of inositol phosphate biosynthetic process (GO:0010919) | 3.73868919 |
| 25 | B cell receptor signaling pathway (GO:0050853) | 3.69443849 |
| 26 | female mating behavior (GO:0060180) | 3.67050425 |
| 27 | regulation of B cell receptor signaling pathway (GO:0050855) | 3.66299355 |
| 28 | meiotic chromosome segregation (GO:0045132) | 3.65537473 |
| 29 | regulation of macrophage chemotaxis (GO:0010758) | 3.63761846 |
| 30 | regulation of meiosis I (GO:0060631) | 3.61040283 |
| 31 | protein polyglutamylation (GO:0018095) | 3.53849305 |
| 32 | sperm motility (GO:0030317) | 3.47477701 |
| 33 | lung vasculature development (GO:0060426) | 3.44896705 |
| 34 | interkinetic nuclear migration (GO:0022027) | 3.43619260 |
| 35 | spermatid development (GO:0007286) | 3.39243485 |
| 36 | histone H3-K9 demethylation (GO:0033169) | 3.36941036 |
| 37 | DNA packaging (GO:0006323) | 3.29197769 |
| 38 | cardiac left ventricle morphogenesis (GO:0003214) | 3.28275357 |
| 39 | regulation of antigen processing and presentation of peptide antigen (GO:0002583) | 3.23417629 |
| 40 | establishment of apical/basal cell polarity (GO:0035089) | 3.20857825 |
| 41 | T cell migration (GO:0072678) | 3.20137757 |
| 42 | rRNA methylation (GO:0031167) | 3.13301765 |
| 43 | positive regulation of epidermal growth factor-activated receptor activity (GO:0045741) | 3.12736990 |
| 44 | histone exchange (GO:0043486) | 3.12110035 |
| 45 | single strand break repair (GO:0000012) | 3.09399122 |
| 46 | establishment of protein localization to Golgi (GO:0072600) | 3.08540872 |
| 47 | acrosome reaction (GO:0007340) | 3.08315538 |
| 48 | establishment of epithelial cell polarity (GO:0090162) | 3.06585823 |
| 49 | rRNA modification (GO:0000154) | 3.02185122 |
| 50 | protein targeting to Golgi (GO:0000042) | 3.01533130 |
| 51 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 2.97120719 |
| 52 | DNA deamination (GO:0045006) | 2.93413160 |
| 53 | regulation of DNA endoreduplication (GO:0032875) | 2.93230286 |
| 54 | regulation of histone H3-K9 methylation (GO:0051570) | 2.87746533 |
| 55 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 2.85003808 |
| 56 | negative regulation of B cell proliferation (GO:0030889) | 2.83845042 |
| 57 | mast cell degranulation (GO:0043303) | 2.81667321 |
| 58 | mast cell activation involved in immune response (GO:0002279) | 2.81667321 |
| 59 | microtubule depolymerization (GO:0007019) | 2.78724148 |
| 60 | chromosome condensation (GO:0030261) | 2.78610528 |
| 61 | positive regulation of B cell differentiation (GO:0045579) | 2.72426009 |
| 62 | multicellular organism reproduction (GO:0032504) | 2.67974040 |
| 63 | urinary tract smooth muscle contraction (GO:0014848) | 2.63999509 |
| 64 | phosphatidylethanolamine metabolic process (GO:0046337) | 2.62573111 |
| 65 | sperm-egg recognition (GO:0035036) | 2.61648159 |
| 66 | spermatogenesis (GO:0007283) | 2.61164328 |
| 67 | male gamete generation (GO:0048232) | 2.60905365 |
| 68 | positive regulation of response to oxidative stress (GO:1902884) | 2.59630127 |
| 69 | positive regulation of cellular response to oxidative stress (GO:1900409) | 2.59630127 |
| 70 | regulation of establishment of cell polarity (GO:2000114) | 2.56861115 |
| 71 | establishment or maintenance of monopolar cell polarity (GO:0061339) | 2.56609525 |
| 72 | establishment of monopolar cell polarity (GO:0061162) | 2.56609525 |
| 73 | lung lobe morphogenesis (GO:0060463) | 2.55177477 |
| 74 | monoubiquitinated protein deubiquitination (GO:0035520) | 2.54218607 |
| 75 | gamete generation (GO:0007276) | 2.54127652 |
| 76 | regulation of transcription from RNA polymerase I promoter (GO:0006356) | 2.54060617 |
| 77 | resolution of meiotic recombination intermediates (GO:0000712) | 2.53190040 |
| 78 | CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369) | 2.52799668 |
| 79 | negative regulation of viral release from host cell (GO:1902187) | 2.51772640 |
| 80 | gene silencing by RNA (GO:0031047) | 2.51072166 |
| 81 | chromosome organization (GO:0051276) | 2.50633817 |
| 82 | B cell homeostasis (GO:0001782) | 2.50558013 |
| 83 | fertilization (GO:0009566) | 2.50529815 |
| 84 | positive regulation of inositol phosphate biosynthetic process (GO:0060732) | 2.50501662 |
| 85 | neuronal action potential (GO:0019228) | 2.48677752 |
| 86 | DNA alkylation (GO:0006305) | 2.47126582 |
| 87 | DNA methylation (GO:0006306) | 2.47126582 |
| 88 | positive regulation of meiosis (GO:0045836) | 2.46869541 |
| 89 | regulation of somitogenesis (GO:0014807) | 2.46656251 |
| 90 | B cell activation involved in immune response (GO:0002312) | 2.44808304 |
| 91 | NAD biosynthetic process (GO:0009435) | 2.44551988 |
| 92 | regulation of germinal center formation (GO:0002634) | 2.44271552 |
| 93 | detection of light stimulus involved in visual perception (GO:0050908) | 2.43275940 |
| 94 | detection of light stimulus involved in sensory perception (GO:0050962) | 2.43275940 |
| 95 | positive regulation of cAMP-mediated signaling (GO:0043950) | 2.43270954 |
| 96 | negative regulation of inclusion body assembly (GO:0090084) | 2.41108842 |
| 97 | binding of sperm to zona pellucida (GO:0007339) | 2.38161302 |
| 98 | mitotic G1/S transition checkpoint (GO:0044819) | 2.36891830 |
| 99 | skeletal muscle tissue regeneration (GO:0043403) | 2.36639702 |
| 100 | centriole replication (GO:0007099) | 2.36376441 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 4.05433304 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.86215725 |
| 3 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 3.68375232 |
| 4 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 3.57401278 |
| 5 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 3.49509123 |
| 6 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 3.21565268 |
| 7 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.63830629 |
| 8 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.47912855 |
| 9 | IRF8_22096565_ChIP-ChIP_GC-B_Mouse | 2.08095727 |
| 10 | FUS_26573619_Chip-Seq_HEK293_Human | 2.04076638 |
| 11 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.00473511 |
| 12 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.96160777 |
| 13 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.94332100 |
| 14 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.94332100 |
| 15 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.91617777 |
| 16 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.90857992 |
| 17 | EWS_26573619_Chip-Seq_HEK293_Human | 1.90158905 |
| 18 | IRF1_21803131_ChIP-Seq_MONOCYTES_Human | 1.87763501 |
| 19 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.69716333 |
| 20 | VDR_22108803_ChIP-Seq_LS180_Human | 1.68889457 |
| 21 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.64035032 |
| 22 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 1.63710044 |
| 23 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.57152040 |
| 24 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.53259894 |
| 25 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.53048519 |
| 26 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.51014182 |
| 27 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.49256810 |
| 28 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.49256810 |
| 29 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.48575252 |
| 30 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.45300461 |
| 31 | CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human | 1.45087163 |
| 32 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.39130072 |
| 33 | STAT3_23295773_ChIP-Seq_U87_Human | 1.37909884 |
| 34 | P300_19829295_ChIP-Seq_ESCs_Human | 1.35545588 |
| 35 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 1.29390080 |
| 36 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.28299817 |
| 37 | GATA3_26560356_Chip-Seq_TH1_Human | 1.28194494 |
| 38 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.27670679 |
| 39 | TCF4_23295773_ChIP-Seq_U87_Human | 1.27615643 |
| 40 | CIITA_25753668_ChIP-Seq_RAJI_Human | 1.27328543 |
| 41 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.26525205 |
| 42 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.26377871 |
| 43 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.25094422 |
| 44 | VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human | 1.23491090 |
| 45 | VDR_23849224_ChIP-Seq_CD4+_Human | 1.22441125 |
| 46 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.21762719 |
| 47 | SPI1_22096565_ChIP-ChIP_GC-B_Mouse | 1.20518181 |
| 48 | LYL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.19512386 |
| 49 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.19429031 |
| 50 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.17894707 |
| 51 | STAT6_20620947_ChIP-Seq_CD4_POS_T_Human | 1.17784877 |
| 52 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 1.17534881 |
| 53 | GATA3_27048872_Chip-Seq_THYMUS_Human | 1.16716802 |
| 54 | MYB_26560356_Chip-Seq_TH2_Human | 1.15492970 |
| 55 | IKZF1_21737484_ChIP-ChIP_HCT116_Human | 1.13991988 |
| 56 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.13740585 |
| 57 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.12865510 |
| 58 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.12765924 |
| 59 | GATA3_26560356_Chip-Seq_TH2_Human | 1.12245378 |
| 60 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 1.12031668 |
| 61 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.11618003 |
| 62 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.11526301 |
| 63 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.11450228 |
| 64 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.10984357 |
| 65 | NCOR_22424771_ChIP-Seq_293T_Human | 1.10138826 |
| 66 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.08008134 |
| 67 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.06603437 |
| 68 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.06418393 |
| 69 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.06205428 |
| 70 | IRF8_21731497_ChIP-ChIP_J774_Mouse | 1.05842879 |
| 71 | VDR_24787735_ChIP-Seq_THP-1_Human | 1.05455404 |
| 72 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.05281252 |
| 73 | AR_25329375_ChIP-Seq_VCAP_Human | 1.03522410 |
| 74 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.02640691 |
| 75 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.01458070 |
| 76 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.01191727 |
| 77 | ERA_21632823_ChIP-Seq_H3396_Human | 1.00526780 |
| 78 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.00519791 |
| 79 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.00519791 |
| 80 | GBX2_23144817_ChIP-Seq_PC3_Human | 0.98705547 |
| 81 | RUNX2_22187159_ChIP-Seq_PCA_Human | 0.98482088 |
| 82 | MYC_18940864_ChIP-ChIP_HL60_Human | 0.97826016 |
| 83 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 0.97365959 |
| 84 | REST_21632747_ChIP-Seq_MESCs_Mouse | 0.97221705 |
| 85 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 0.95803802 |
| 86 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 0.95351095 |
| 87 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 0.94462931 |
| 88 | RUNX_20019798_ChIP-Seq_JUKART_Human | 0.94308806 |
| 89 | TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.94138720 |
| 90 | MYB_26560356_Chip-Seq_TH1_Human | 0.93355924 |
| 91 | SOX2_19829295_ChIP-Seq_ESCs_Human | 0.93218846 |
| 92 | NANOG_19829295_ChIP-Seq_ESCs_Human | 0.93218846 |
| 93 | STAT1_20625510_ChIP-Seq_HELA_Human | 0.92949879 |
| 94 | NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human | 0.92582585 |
| 95 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 0.91857530 |
| 96 | BCAT_22108803_ChIP-Seq_LS180_Human | 0.90347731 |
| 97 | FOXP3_21729870_ChIP-Seq_TREG_Human | 0.90332774 |
| 98 | BCL6_27268052_Chip-Seq_Bcells_Human | 0.90028585 |
| 99 | GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 0.89870876 |
| 100 | EGR1_23403033_ChIP-Seq_LIVER_Mouse | 0.89034297 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0008877_abnormal_DNA_methylation | 4.89521389 |
| 2 | MP0005410_abnormal_fertilization | 3.44627654 |
| 3 | MP0003172_abnormal_lysosome_physiology | 3.21524363 |
| 4 | MP0002736_abnormal_nociception_after | 3.00235215 |
| 5 | MP0002653_abnormal_ependyma_morphology | 2.93448213 |
| 6 | MP0001968_abnormal_touch/_nociception | 2.77286371 |
| 7 | MP0008057_abnormal_DNA_replication | 2.49896196 |
| 8 | MP0008058_abnormal_DNA_repair | 2.47944505 |
| 9 | MP0001929_abnormal_gametogenesis | 2.38493027 |
| 10 | MP0005671_abnormal_response_to | 2.37884704 |
| 11 | MP0000685_abnormal_immune_system | 2.35646181 |
| 12 | MP0002837_dystrophic_cardiac_calcinosis | 2.32947885 |
| 13 | MP0002210_abnormal_sex_determination | 2.15807403 |
| 14 | MP0000015_abnormal_ear_pigmentation | 2.11446873 |
| 15 | MP0003698_abnormal_male_reproductive | 2.09437389 |
| 16 | MP0000569_abnormal_digit_pigmentation | 2.09417753 |
| 17 | MP0001800_abnormal_humoral_immune | 2.06259884 |
| 18 | MP0010094_abnormal_chromosome_stability | 2.05513402 |
| 19 | MP0001835_abnormal_antigen_presentation | 2.01727534 |
| 20 | MP0005075_abnormal_melanosome_morpholog | 1.99882785 |
| 21 | MP0005645_abnormal_hypothalamus_physiol | 1.90403942 |
| 22 | MP0005360_urolithiasis | 1.88130095 |
| 23 | MP0000372_irregular_coat_pigmentation | 1.85352519 |
| 24 | MP0002095_abnormal_skin_pigmentation | 1.74964916 |
| 25 | MP0002396_abnormal_hematopoietic_system | 1.74751376 |
| 26 | MP0005423_abnormal_somatic_nervous | 1.69172166 |
| 27 | MP0003646_muscle_fatigue | 1.66134168 |
| 28 | MP0001145_abnormal_male_reproductive | 1.58452577 |
| 29 | MP0001790_abnormal_immune_system | 1.56225323 |
| 30 | MP0005387_immune_system_phenotype | 1.56225323 |
| 31 | MP0003718_maternal_effect | 1.54264652 |
| 32 | MP0001348_abnormal_lacrimal_gland | 1.53106178 |
| 33 | MP0009379_abnormal_foot_pigmentation | 1.52707004 |
| 34 | MP0002160_abnormal_reproductive_system | 1.51635291 |
| 35 | MP0005409_darkened_coat_color | 1.49110576 |
| 36 | MP0008872_abnormal_physiological_respon | 1.48257985 |
| 37 | MP0002452_abnormal_antigen_presenting | 1.47276753 |
| 38 | MP0005000_abnormal_immune_tolerance | 1.46694156 |
| 39 | MP0000653_abnormal_sex_gland | 1.38897980 |
| 40 | MP0005310_abnormal_salivary_gland | 1.38662517 |
| 41 | MP0002735_abnormal_chemical_nociception | 1.38294071 |
| 42 | MP0002723_abnormal_immune_serum | 1.37831147 |
| 43 | MP0009840_abnormal_foam_cell | 1.37125243 |
| 44 | MP0003183_abnormal_peptide_metabolism | 1.29764346 |
| 45 | MP0005379_endocrine/exocrine_gland_phen | 1.28719036 |
| 46 | MP0001485_abnormal_pinna_reflex | 1.27208540 |
| 47 | MP0002138_abnormal_hepatobiliary_system | 1.26531737 |
| 48 | MP0005174_abnormal_tail_pigmentation | 1.25852003 |
| 49 | MP0003763_abnormal_thymus_physiology | 1.24612585 |
| 50 | MP0002734_abnormal_mechanical_nocicepti | 1.22327047 |
| 51 | MP0003303_peritoneal_inflammation | 1.22048778 |
| 52 | MP0002420_abnormal_adaptive_immunity | 1.19073352 |
| 53 | MP0003868_abnormal_feces_composition | 1.18993851 |
| 54 | MP0001819_abnormal_immune_cell | 1.17531031 |
| 55 | MP0005464_abnormal_platelet_physiology | 1.17296747 |
| 56 | MP0004134_abnormal_chest_morphology | 1.15312213 |
| 57 | MP0002163_abnormal_gland_morphology | 1.14442321 |
| 58 | MP0009046_muscle_twitch | 1.10378251 |
| 59 | MP0009745_abnormal_behavioral_response | 1.09647271 |
| 60 | MP0002148_abnormal_hypersensitivity_rea | 1.08506791 |
| 61 | MP0002272_abnormal_nervous_system | 1.07540115 |
| 62 | MP0004742_abnormal_vestibular_system | 1.06603903 |
| 63 | MP0005389_reproductive_system_phenotype | 1.05560627 |
| 64 | MP0002909_abnormal_adrenal_gland | 1.05480650 |
| 65 | MP0002398_abnormal_bone_marrow | 1.05440085 |
| 66 | MP0000371_diluted_coat_color | 1.04133691 |
| 67 | MP0003693_abnormal_embryo_hatching | 1.02161110 |
| 68 | MP0000678_abnormal_parathyroid_gland | 1.01106194 |
| 69 | MP0000716_abnormal_immune_system | 1.00072037 |
| 70 | MP0002161_abnormal_fertility/fecundity | 0.99646281 |
| 71 | MP0001873_stomach_inflammation | 0.99091664 |
| 72 | MP0001984_abnormal_olfaction | 0.98305376 |
| 73 | MP0002693_abnormal_pancreas_physiology | 0.97386137 |
| 74 | MP0006276_abnormal_autonomic_nervous | 0.94785663 |
| 75 | MP0005535_abnormal_body_temperature | 0.93731926 |
| 76 | MP0002733_abnormal_thermal_nociception | 0.91784181 |
| 77 | MP0002139_abnormal_hepatobiliary_system | 0.91108778 |
| 78 | MP0005670_abnormal_white_adipose | 0.91057148 |
| 79 | MP0006036_abnormal_mitochondrial_physio | 0.91014661 |
| 80 | MP0001970_abnormal_pain_threshold | 0.89620687 |
| 81 | MP0001853_heart_inflammation | 0.88696296 |
| 82 | MP0003111_abnormal_nucleus_morphology | 0.88405904 |
| 83 | MP0003077_abnormal_cell_cycle | 0.86391137 |
| 84 | MP0001486_abnormal_startle_reflex | 0.85678818 |
| 85 | MP0003635_abnormal_synaptic_transmissio | 0.82752690 |
| 86 | MP0005220_abnormal_exocrine_pancreas | 0.82446525 |
| 87 | MP0002419_abnormal_innate_immunity | 0.82381020 |
| 88 | MP0002067_abnormal_sensory_capabilities | 0.81949884 |
| 89 | MP0003136_yellow_coat_color | 0.80396456 |
| 90 | MP0002277_abnormal_respiratory_mucosa | 0.79465157 |
| 91 | MP0000470_abnormal_stomach_morphology | 0.79357645 |
| 92 | MP0002429_abnormal_blood_cell | 0.77845257 |
| 93 | MP0000689_abnormal_spleen_morphology | 0.74982011 |
| 94 | MP0002933_joint_inflammation | 0.74764391 |
| 95 | MP0001501_abnormal_sleep_pattern | 0.71502665 |
| 96 | MP0002572_abnormal_emotion/affect_behav | 0.69654679 |
| 97 | MP0001119_abnormal_female_reproductive | 0.69424012 |
| 98 | MP0002064_seizures | 0.68196565 |
| 99 | MP0001963_abnormal_hearing_physiology | 0.66433604 |
| 100 | MP0001845_abnormal_inflammatory_respons | 0.66005278 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Absent/shortened dynein arms (HP:0200106) | 5.85629349 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.85629349 |
| 3 | Recurrent sinusitis (HP:0011108) | 5.15161687 |
| 4 | Annular pancreas (HP:0001734) | 4.75213856 |
| 5 | Intestinal atresia (HP:0011100) | 4.60499800 |
| 6 | Gastrointestinal stroma tumor (HP:0100723) | 4.35819986 |
| 7 | Panhypogammaglobulinemia (HP:0003139) | 3.71733255 |
| 8 | Abnormal ciliary motility (HP:0012262) | 3.51821533 |
| 9 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.51644236 |
| 10 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.51644236 |
| 11 | IgA deficiency (HP:0002720) | 3.49335122 |
| 12 | Agammaglobulinemia (HP:0004432) | 3.24757109 |
| 13 | Abnormality of T cell physiology (HP:0011840) | 3.19563172 |
| 14 | Abnormality of the pulmonary veins (HP:0011718) | 3.11146370 |
| 15 | Abnormality of cochlea (HP:0000375) | 3.05264761 |
| 16 | Azoospermia (HP:0000027) | 3.04252566 |
| 17 | Abnormal lung lobation (HP:0002101) | 2.97173449 |
| 18 | Duodenal stenosis (HP:0100867) | 2.92014535 |
| 19 | Small intestinal stenosis (HP:0012848) | 2.92014535 |
| 20 | Congenital, generalized hypertrichosis (HP:0004540) | 2.91681461 |
| 21 | IgM deficiency (HP:0002850) | 2.86487625 |
| 22 | Abnormality of lateral ventricle (HP:0030047) | 2.81681613 |
| 23 | Abnormal respiratory motile cilium physiology (HP:0012261) | 2.73184582 |
| 24 | Bony spicule pigmentary retinopathy (HP:0007737) | 2.72870621 |
| 25 | Spontaneous abortion (HP:0005268) | 2.70027624 |
| 26 | Attenuation of retinal blood vessels (HP:0007843) | 2.69894794 |
| 27 | Abnormality of the prostate (HP:0008775) | 2.66956954 |
| 28 | Meckel diverticulum (HP:0002245) | 2.66438597 |
| 29 | Recurrent bronchitis (HP:0002837) | 2.65485895 |
| 30 | Tubulointerstitial nephritis (HP:0001970) | 2.65331386 |
| 31 | Abnormality of the ileum (HP:0001549) | 2.55375850 |
| 32 | Albinism (HP:0001022) | 2.43233750 |
| 33 | Prostate neoplasm (HP:0100787) | 2.41748410 |
| 34 | Decreased central vision (HP:0007663) | 2.40401595 |
| 35 | Gastrointestinal atresia (HP:0002589) | 2.36999582 |
| 36 | IgG deficiency (HP:0004315) | 2.32495169 |
| 37 | Morphological abnormality of the inner ear (HP:0011390) | 2.30044386 |
| 38 | Abnormal spermatogenesis (HP:0008669) | 2.29711858 |
| 39 | Ectopic kidney (HP:0000086) | 2.18671058 |
| 40 | Abnormality of the duodenum (HP:0002246) | 2.18434667 |
| 41 | Hypoplasia of the uterus (HP:0000013) | 2.17594713 |
| 42 | Recurrent pneumonia (HP:0006532) | 2.16690129 |
| 43 | Hydroureter (HP:0000072) | 2.16648286 |
| 44 | Single umbilical artery (HP:0001195) | 2.15039169 |
| 45 | Abnormality of the fetal cardiovascular system (HP:0010948) | 2.15039169 |
| 46 | Abnormal umbilical cord blood vessels (HP:0011403) | 2.15039169 |
| 47 | Colon cancer (HP:0003003) | 2.14984503 |
| 48 | Genetic anticipation (HP:0003743) | 2.14264776 |
| 49 | Abnormal delayed hypersensitivity skin test (HP:0002963) | 2.12295867 |
| 50 | Recurrent lower respiratory tract infections (HP:0002783) | 2.12211977 |
| 51 | Abnormality of DNA repair (HP:0003254) | 2.07296087 |
| 52 | Vasculitis (HP:0002633) | 2.03105603 |
| 53 | Chromsome breakage (HP:0040012) | 2.02214255 |
| 54 | Lymphopenia (HP:0001888) | 2.01850335 |
| 55 | Hyperventilation (HP:0002883) | 1.99479421 |
| 56 | Colitis (HP:0002583) | 1.97815138 |
| 57 | Febrile seizures (HP:0002373) | 1.97383396 |
| 58 | Hypoplastic ischia (HP:0003175) | 1.96818728 |
| 59 | Meningitis (HP:0001287) | 1.96576922 |
| 60 | Hypoplastic left heart (HP:0004383) | 1.95077473 |
| 61 | Recurrent viral infections (HP:0004429) | 1.95010355 |
| 62 | Tinnitus (HP:0000360) | 1.94640303 |
| 63 | Constricted visual fields (HP:0001133) | 1.93652476 |
| 64 | Abnormality of male internal genitalia (HP:0000022) | 1.92509622 |
| 65 | Recurrent fungal infections (HP:0002841) | 1.90422495 |
| 66 | Nephronophthisis (HP:0000090) | 1.88793758 |
| 67 | Intellectual disability, profound (HP:0002187) | 1.87648619 |
| 68 | Abnormal finger flexion creases (HP:0006143) | 1.87169401 |
| 69 | Hypoplasia of the radius (HP:0002984) | 1.85383826 |
| 70 | Abolished electroretinogram (ERG) (HP:0000550) | 1.83750973 |
| 71 | Molar tooth sign on MRI (HP:0002419) | 1.83614473 |
| 72 | Abnormality of midbrain morphology (HP:0002418) | 1.83614473 |
| 73 | Impaired vibration sensation in the lower limbs (HP:0002166) | 1.82264405 |
| 74 | Neoplasm of the adrenal cortex (HP:0100641) | 1.82000920 |
| 75 | Scotoma (HP:0000575) | 1.81712101 |
| 76 | Progressive cerebellar ataxia (HP:0002073) | 1.80790850 |
| 77 | Abnormality of T cells (HP:0002843) | 1.78806210 |
| 78 | Reticulocytopenia (HP:0001896) | 1.78428093 |
| 79 | Autoimmune thrombocytopenia (HP:0001973) | 1.78035556 |
| 80 | Chronic mucocutaneous candidiasis (HP:0002728) | 1.77787097 |
| 81 | Recurrent cutaneous fungal infections (HP:0011370) | 1.77787097 |
| 82 | Abnormality of the renal medulla (HP:0100957) | 1.76429942 |
| 83 | Abnormality of cells of the lymphoid lineage (HP:0012140) | 1.76291805 |
| 84 | Hypoplasia of the fovea (HP:0007750) | 1.76194566 |
| 85 | Aplasia/Hypoplasia of the fovea (HP:0008060) | 1.76194566 |
| 86 | Methylmalonic aciduria (HP:0012120) | 1.76078766 |
| 87 | Renal Fanconi syndrome (HP:0001994) | 1.73687406 |
| 88 | Acute myeloid leukemia (HP:0004808) | 1.72202474 |
| 89 | Dysautonomia (HP:0002459) | 1.71943803 |
| 90 | Volvulus (HP:0002580) | 1.71177323 |
| 91 | Atonic seizures (HP:0010819) | 1.70694570 |
| 92 | Clumsiness (HP:0002312) | 1.69562295 |
| 93 | Pustule (HP:0200039) | 1.68542045 |
| 94 | Aplasia/Hypoplasia of the tibia (HP:0005772) | 1.67959541 |
| 95 | Cone-rod dystrophy (HP:0000548) | 1.65633320 |
| 96 | Myelodysplasia (HP:0002863) | 1.61691711 |
| 97 | Pulmonary fibrosis (HP:0002206) | 1.61664218 |
| 98 | Abnormality of renal resorption (HP:0011038) | 1.61482172 |
| 99 | Increased hepatocellular lipid droplets (HP:0006565) | 1.59727426 |
| 100 | Viral hepatitis (HP:0006562) | 1.58701405 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | NUAK1 | 3.44827691 |
| 2 | RIPK4 | 3.21774260 |
| 3 | PNCK | 3.16436119 |
| 4 | KIT | 2.81512097 |
| 5 | CDK19 | 2.74946129 |
| 6 | FRK | 2.62370058 |
| 7 | PLK4 | 2.39715268 |
| 8 | CCNB1 | 2.33280172 |
| 9 | TAF1 | 2.27855321 |
| 10 | PLK2 | 2.26558562 |
| 11 | BMPR2 | 2.22761652 |
| 12 | TEC | 2.22497378 |
| 13 | TAOK3 | 2.19275042 |
| 14 | STK16 | 2.07798643 |
| 15 | VRK1 | 2.01320158 |
| 16 | ZAK | 2.00918185 |
| 17 | SYK | 1.94861401 |
| 18 | MAP2K2 | 1.77755225 |
| 19 | CSF1R | 1.74692489 |
| 20 | BMPR1B | 1.67078649 |
| 21 | EIF2AK3 | 1.54056758 |
| 22 | VRK2 | 1.49323128 |
| 23 | PTK2B | 1.45103073 |
| 24 | IKBKE | 1.44694194 |
| 25 | NTRK3 | 1.44266666 |
| 26 | CDC7 | 1.44154883 |
| 27 | OXSR1 | 1.36673212 |
| 28 | CDK12 | 1.34051959 |
| 29 | CDK4 | 1.25944110 |
| 30 | BTK | 1.23783881 |
| 31 | INSRR | 1.19394947 |
| 32 | CAMK1G | 1.16760514 |
| 33 | TLK1 | 1.14697780 |
| 34 | BLK | 1.14473045 |
| 35 | MAP4K1 | 1.13771189 |
| 36 | IKBKB | 1.11480665 |
| 37 | STK38L | 1.03067670 |
| 38 | GRK1 | 1.02717195 |
| 39 | LYN | 1.01066762 |
| 40 | BUB1 | 0.96196443 |
| 41 | PDK2 | 0.95208603 |
| 42 | WEE1 | 0.94343716 |
| 43 | PRKCQ | 0.90338967 |
| 44 | NME1 | 0.83459325 |
| 45 | PASK | 0.83409311 |
| 46 | GRK5 | 0.83286489 |
| 47 | TBK1 | 0.82424283 |
| 48 | DAPK1 | 0.81654668 |
| 49 | STK38 | 0.79203225 |
| 50 | CHEK1 | 0.78337272 |
| 51 | ATR | 0.78334746 |
| 52 | NLK | 0.75630005 |
| 53 | CHUK | 0.73820979 |
| 54 | PIK3CG | 0.69297316 |
| 55 | IRAK4 | 0.66827084 |
| 56 | CDK3 | 0.66720533 |
| 57 | AURKA | 0.66552284 |
| 58 | NEK9 | 0.65930723 |
| 59 | PLK1 | 0.62371353 |
| 60 | DAPK2 | 0.61413606 |
| 61 | MAPK15 | 0.61100827 |
| 62 | MELK | 0.60772314 |
| 63 | JAK3 | 0.60704282 |
| 64 | CHEK2 | 0.59598328 |
| 65 | BRD4 | 0.59514724 |
| 66 | SGK1 | 0.59031177 |
| 67 | TNIK | 0.56641954 |
| 68 | DAPK3 | 0.54600671 |
| 69 | PDK1 | 0.54538502 |
| 70 | CDK2 | 0.54095777 |
| 71 | NME2 | 0.53100007 |
| 72 | MAP3K14 | 0.51380352 |
| 73 | MATK | 0.50683176 |
| 74 | FGR | 0.50600188 |
| 75 | RPS6KA5 | 0.50175933 |
| 76 | ITK | 0.49384619 |
| 77 | CSNK1E | 0.48235505 |
| 78 | MST4 | 0.47819990 |
| 79 | TTK | 0.47758379 |
| 80 | LCK | 0.46755777 |
| 81 | ATM | 0.45966037 |
| 82 | FGFR3 | 0.45928581 |
| 83 | MAPK7 | 0.44859736 |
| 84 | MAPKAPK5 | 0.44303452 |
| 85 | PRKCZ | 0.41684652 |
| 86 | MAPK4 | 0.40849900 |
| 87 | MAP3K10 | 0.40157067 |
| 88 | JAK1 | 0.39601095 |
| 89 | PRKG1 | 0.38537747 |
| 90 | PRKCH | 0.38479908 |
| 91 | PRKCI | 0.38332950 |
| 92 | CSNK2A2 | 0.37784879 |
| 93 | GSK3B | 0.37579999 |
| 94 | PDPK1 | 0.36782753 |
| 95 | IRAK1 | 0.36520120 |
| 96 | PRKACB | 0.35339337 |
| 97 | MARK3 | 0.34509967 |
| 98 | PRKCB | 0.34090662 |
| 99 | PLK3 | 0.34085001 |
| 100 | PKN1 | 0.33565231 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 4.77403243 |
| 2 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 4.04517904 |
| 3 | Allograft rejection_Homo sapiens_hsa05330 | 3.65089302 |
| 4 | Asthma_Homo sapiens_hsa05310 | 3.51441649 |
| 5 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 3.38643436 |
| 6 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 3.11316207 |
| 7 | Primary immunodeficiency_Homo sapiens_hsa05340 | 3.07625631 |
| 8 | Graft-versus-host disease_Homo sapiens_hsa05332 | 3.01666994 |
| 9 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 2.46082167 |
| 10 | Ribosome_Homo sapiens_hsa03010 | 2.39385663 |
| 11 | Homologous recombination_Homo sapiens_hsa03440 | 2.30675222 |
| 12 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 2.08031003 |
| 13 | Olfactory transduction_Homo sapiens_hsa04740 | 1.73269321 |
| 14 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.71918742 |
| 15 | Viral myocarditis_Homo sapiens_hsa05416 | 1.64007786 |
| 16 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 1.58377423 |
| 17 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 1.58144863 |
| 18 | Mismatch repair_Homo sapiens_hsa03430 | 1.54535485 |
| 19 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 1.51101742 |
| 20 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 1.49964392 |
| 21 | Leishmaniasis_Homo sapiens_hsa05140 | 1.36481871 |
| 22 | DNA replication_Homo sapiens_hsa03030 | 1.24570965 |
| 23 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.16459876 |
| 24 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 1.14756341 |
| 25 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 1.13482634 |
| 26 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 1.11407904 |
| 27 | Influenza A_Homo sapiens_hsa05164 | 1.10285996 |
| 28 | Base excision repair_Homo sapiens_hsa03410 | 1.06269915 |
| 29 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.00264151 |
| 30 | Parkinsons disease_Homo sapiens_hsa05012 | 0.97442533 |
| 31 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.95459406 |
| 32 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.91341985 |
| 33 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.91008666 |
| 34 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.90176836 |
| 35 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.85138648 |
| 36 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.84471300 |
| 37 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.83892926 |
| 38 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.83284798 |
| 39 | Alcoholism_Homo sapiens_hsa05034 | 0.81601325 |
| 40 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 0.81475043 |
| 41 | Nicotine addiction_Homo sapiens_hsa05033 | 0.79565091 |
| 42 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.79281123 |
| 43 | Taste transduction_Homo sapiens_hsa04742 | 0.77647984 |
| 44 | RNA polymerase_Homo sapiens_hsa03020 | 0.73733158 |
| 45 | Phototransduction_Homo sapiens_hsa04744 | 0.72810643 |
| 46 | RNA transport_Homo sapiens_hsa03013 | 0.71688598 |
| 47 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.70777615 |
| 48 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.69881980 |
| 49 | RNA degradation_Homo sapiens_hsa03018 | 0.69060969 |
| 50 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.66893123 |
| 51 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.65274930 |
| 52 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.59794983 |
| 53 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.59673407 |
| 54 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.58663860 |
| 55 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.58482402 |
| 56 | Retinol metabolism_Homo sapiens_hsa00830 | 0.56536776 |
| 57 | Renin secretion_Homo sapiens_hsa04924 | 0.55123231 |
| 58 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.54424438 |
| 59 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.54001928 |
| 60 | Morphine addiction_Homo sapiens_hsa05032 | 0.53461438 |
| 61 | Huntingtons disease_Homo sapiens_hsa05016 | 0.52385970 |
| 62 | Circadian entrainment_Homo sapiens_hsa04713 | 0.50947990 |
| 63 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.50879151 |
| 64 | Salivary secretion_Homo sapiens_hsa04970 | 0.50496334 |
| 65 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.49526592 |
| 66 | Insulin secretion_Homo sapiens_hsa04911 | 0.48758075 |
| 67 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 0.47734840 |
| 68 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.47532506 |
| 69 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.45947271 |
| 70 | Measles_Homo sapiens_hsa05162 | 0.45853096 |
| 71 | Basal transcription factors_Homo sapiens_hsa03022 | 0.45540057 |
| 72 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.44854099 |
| 73 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.44723258 |
| 74 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.44669158 |
| 75 | Tuberculosis_Homo sapiens_hsa05152 | 0.43345106 |
| 76 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.41039828 |
| 77 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.41020433 |
| 78 | Purine metabolism_Homo sapiens_hsa00230 | 0.40042008 |
| 79 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.38236404 |
| 80 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 0.38164630 |
| 81 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.37449498 |
| 82 | Proteasome_Homo sapiens_hsa03050 | 0.35736569 |
| 83 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.35107372 |
| 84 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.34911353 |
| 85 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.34091576 |
| 86 | Long-term potentiation_Homo sapiens_hsa04720 | 0.33930577 |
| 87 | Toll-like receptor signaling pathway_Homo sapiens_hsa04620 | 0.33779481 |
| 88 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.33179117 |
| 89 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.33135016 |
| 90 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.32652024 |
| 91 | Platelet activation_Homo sapiens_hsa04611 | 0.31699561 |
| 92 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.30707329 |
| 93 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.29533547 |
| 94 | RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622 | 0.29476551 |
| 95 | Cell cycle_Homo sapiens_hsa04110 | 0.28639298 |
| 96 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 0.28356045 |
| 97 | Alzheimers disease_Homo sapiens_hsa05010 | 0.28234091 |
| 98 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.27975832 |
| 99 | Chemokine signaling pathway_Homo sapiens_hsa04062 | 0.27886355 |
| 100 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.27431404 |

