

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | male meiosis I (GO:0007141) | 9.85072279 |
| 2 | chromosome organization involved in meiosis (GO:0070192) | 9.84745608 |
| 3 | male meiosis (GO:0007140) | 9.58516300 |
| 4 | synaptonemal complex assembly (GO:0007130) | 9.03436185 |
| 5 | DNA methylation involved in gamete generation (GO:0043046) | 8.79984887 |
| 6 | synaptonemal complex organization (GO:0070193) | 8.19942808 |
| 7 | gonadal mesoderm development (GO:0007506) | 8.15823922 |
| 8 | meiosis I (GO:0007127) | 7.97230145 |
| 9 | meiotic nuclear division (GO:0007126) | 7.81163371 |
| 10 | resolution of meiotic recombination intermediates (GO:0000712) | 7.11326113 |
| 11 | positive regulation of meiosis (GO:0045836) | 7.07982662 |
| 12 | positive regulation of meiotic cell cycle (GO:0051446) | 6.63586359 |
| 13 | meiotic cell cycle process (GO:1903046) | 6.59967830 |
| 14 | DNA synthesis involved in DNA repair (GO:0000731) | 6.00114954 |
| 15 | gene silencing by RNA (GO:0031047) | 5.84695458 |
| 16 | sister chromatid cohesion (GO:0007062) | 5.66884176 |
| 17 | meiotic chromosome segregation (GO:0045132) | 5.34009826 |
| 18 | oogenesis (GO:0048477) | 5.22075465 |
| 19 | histone H3-K9 demethylation (GO:0033169) | 5.08907895 |
| 20 | negative regulation of meiosis (GO:0045835) | 4.87687520 |
| 21 | mitotic chromosome condensation (GO:0007076) | 4.87424758 |
| 22 | female gamete generation (GO:0007292) | 4.83956980 |
| 23 | acrosome reaction (GO:0007340) | 4.76495430 |
| 24 | regulation of meiotic cell cycle (GO:0051445) | 4.74356607 |
| 25 | regulation of meiosis (GO:0040020) | 4.72760072 |
| 26 | spermatid development (GO:0007286) | 4.62568130 |
| 27 | meiotic cell cycle (GO:0051321) | 4.61993289 |
| 28 | binding of sperm to zona pellucida (GO:0007339) | 4.49086726 |
| 29 | fusion of sperm to egg plasma membrane (GO:0007342) | 4.37221590 |
| 30 | regulation of histone H3-K9 methylation (GO:0051570) | 4.18685976 |
| 31 | germ cell development (GO:0007281) | 4.16830227 |
| 32 | centriole replication (GO:0007099) | 4.10394562 |
| 33 | mitotic sister chromatid cohesion (GO:0007064) | 4.00061113 |
| 34 | DNA packaging (GO:0006323) | 3.84529973 |
| 35 | chromosome condensation (GO:0030261) | 3.83265170 |
| 36 | fertilization (GO:0009566) | 3.78397461 |
| 37 | histone exchange (GO:0043486) | 3.77994817 |
| 38 | oocyte maturation (GO:0001556) | 3.76781045 |
| 39 | gene silencing (GO:0016458) | 3.75923902 |
| 40 | sperm-egg recognition (GO:0035036) | 3.75027636 |
| 41 | reciprocal DNA recombination (GO:0035825) | 3.69767113 |
| 42 | reciprocal meiotic recombination (GO:0007131) | 3.69767113 |
| 43 | mitotic metaphase plate congression (GO:0007080) | 3.58307849 |
| 44 | male gamete generation (GO:0048232) | 3.55037986 |
| 45 | spermatogenesis (GO:0007283) | 3.54471360 |
| 46 | DNA methylation (GO:0006306) | 3.50950388 |
| 47 | DNA alkylation (GO:0006305) | 3.50950388 |
| 48 | gamete generation (GO:0007276) | 3.42269845 |
| 49 | microtubule depolymerization (GO:0007019) | 3.41617261 |
| 50 | attachment of spindle microtubules to kinetochore (GO:0008608) | 3.39020941 |
| 51 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.36383091 |
| 52 | negative regulation of meiotic cell cycle (GO:0051447) | 3.33627683 |
| 53 | regulation of DNA endoreduplication (GO:0032875) | 3.32716288 |
| 54 | sperm motility (GO:0030317) | 3.31862637 |
| 55 | sex differentiation (GO:0007548) | 3.29602397 |
| 56 | negative regulation of gene silencing (GO:0060969) | 3.27169528 |
| 57 | plasma membrane fusion (GO:0045026) | 3.26967762 |
| 58 | centriole assembly (GO:0098534) | 3.24265970 |
| 59 | CENP-A containing nucleosome assembly (GO:0034080) | 3.20759202 |
| 60 | metaphase plate congression (GO:0051310) | 3.19031708 |
| 61 | negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518) | 3.18747282 |
| 62 | positive regulation of translational initiation (GO:0045948) | 3.17870740 |
| 63 | oocyte development (GO:0048599) | 3.11350185 |
| 64 | microtubule severing (GO:0051013) | 3.10777538 |
| 65 | chromatin remodeling at centromere (GO:0031055) | 3.06083526 |
| 66 | nuclear pore complex assembly (GO:0051292) | 3.04559794 |
| 67 | seminiferous tubule development (GO:0072520) | 3.01919915 |
| 68 | chromosome organization (GO:0051276) | 2.98534607 |
| 69 | interkinetic nuclear migration (GO:0022027) | 2.94908267 |
| 70 | protein targeting to Golgi (GO:0000042) | 2.94628384 |
| 71 | regulation of chromosome segregation (GO:0051983) | 2.92166924 |
| 72 | cell-cell recognition (GO:0009988) | 2.90600366 |
| 73 | establishment of protein localization to Golgi (GO:0072600) | 2.88953746 |
| 74 | protein K6-linked ubiquitination (GO:0085020) | 2.88701272 |
| 75 | lymphangiogenesis (GO:0001946) | 2.87197271 |
| 76 | nuclear division (GO:0000280) | 2.87094491 |
| 77 | embryonic foregut morphogenesis (GO:0048617) | 2.81629525 |
| 78 | mitotic spindle assembly checkpoint (GO:0007094) | 2.78191025 |
| 79 | metanephric mesenchyme development (GO:0072075) | 2.76556773 |
| 80 | mitotic spindle checkpoint (GO:0071174) | 2.75549863 |
| 81 | embryonic body morphogenesis (GO:0010172) | 2.75431521 |
| 82 | proteasome assembly (GO:0043248) | 2.74965155 |
| 83 | microtubule polymerization or depolymerization (GO:0031109) | 2.72335299 |
| 84 | organelle fission (GO:0048285) | 2.72060935 |
| 85 | spindle assembly checkpoint (GO:0071173) | 2.71341691 |
| 86 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 2.69679905 |
| 87 | multicellular organismal reproductive process (GO:0048609) | 2.69402959 |
| 88 | negative regulation of nuclear division (GO:0051784) | 2.66469428 |
| 89 | DNA catabolic process, exonucleolytic (GO:0000738) | 2.65434832 |
| 90 | regulation of centriole replication (GO:0046599) | 2.63899145 |
| 91 | histone H4-K12 acetylation (GO:0043983) | 2.63316015 |
| 92 | nuclear pore organization (GO:0006999) | 2.62363598 |
| 93 | negative regulation of mitotic sister chromatid separation (GO:2000816) | 2.61424233 |
| 94 | negative regulation of sister chromatid segregation (GO:0033046) | 2.61424233 |
| 95 | negative regulation of mitotic metaphase/anaphase transition (GO:0045841) | 2.61424233 |
| 96 | negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100) | 2.61424233 |
| 97 | negative regulation of mitotic sister chromatid segregation (GO:0033048) | 2.61424233 |
| 98 | piRNA metabolic process (GO:0034587) | 14.1291527 |
| 99 | synapsis (GO:0007129) | 12.2188543 |
| 100 | regulation of meiosis I (GO:0060631) | 10.5349869 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 6.75467101 |
| 2 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 6.22767670 |
| 3 | KLF5_18264089_ChIP-ChIP_MESCs_Mouse | 4.57334592 |
| 4 | KLF4_18264089_ChIP-ChIP_MESCs_Mouse | 4.57334592 |
| 5 | KLF2_18264089_ChIP-ChIP_MESCs_Mouse | 4.57334592 |
| 6 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 3.50805977 |
| 7 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.87438434 |
| 8 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.70739882 |
| 9 | HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse | 2.61103247 |
| 10 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.37795439 |
| 11 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 2.09900067 |
| 12 | * ZNF274_21170338_ChIP-Seq_K562_Hela | 2.08956538 |
| 13 | FUS_26573619_Chip-Seq_HEK293_Human | 2.07991657 |
| 14 | RNF2_27304074_Chip-Seq_NSC_Mouse | 2.06151809 |
| 15 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.04114501 |
| 16 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 2.01894846 |
| 17 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.96262325 |
| 18 | KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 1.92193080 |
| 19 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 1.86717125 |
| 20 | VDR_22108803_ChIP-Seq_LS180_Human | 1.76238976 |
| 21 | * IGF1R_20145208_ChIP-Seq_DFB_Human | 1.75291173 |
| 22 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 1.65937859 |
| 23 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.56129713 |
| 24 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.54658820 |
| 25 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.53531329 |
| 26 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.53078734 |
| 27 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.45727324 |
| 28 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.43284193 |
| 29 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.42801201 |
| 30 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.38978636 |
| 31 | PRDM5_23873026_ChIP-Seq_MEFs_Mouse | 1.37445442 |
| 32 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 1.36942202 |
| 33 | * SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.35457043 |
| 34 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.32874275 |
| 35 | * STAT3_23295773_ChIP-Seq_U87_Human | 1.31514112 |
| 36 | RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 1.31505857 |
| 37 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 1.31031689 |
| 38 | * CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.29265875 |
| 39 | * RUNX2_22187159_ChIP-Seq_PCA_Human | 1.28886767 |
| 40 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.28467750 |
| 41 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.27848400 |
| 42 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.23302535 |
| 43 | EWS_26573619_Chip-Seq_HEK293_Human | 1.21350091 |
| 44 | HTT_18923047_ChIP-ChIP_STHdh_Human | 1.20817922 |
| 45 | TCF3_18467660_ChIP-ChIP_MESCs_Mouse | 1.19654136 |
| 46 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 1.19441084 |
| 47 | FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 1.18528495 |
| 48 | ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.18024662 |
| 49 | NOTCH1_21737748_ChIP-Seq_TLL_Human | 1.17223935 |
| 50 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.15081090 |
| 51 | * CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.12869789 |
| 52 | P300_19829295_ChIP-Seq_ESCs_Human | 1.12159282 |
| 53 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.12148322 |
| 54 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.12148322 |
| 55 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.11710553 |
| 56 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.11682625 |
| 57 | PKCTHETA_26484144_Chip-Seq_BREAST_Human | 1.11026052 |
| 58 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.11004897 |
| 59 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.10144194 |
| 60 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.08628535 |
| 61 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.08628535 |
| 62 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.06650505 |
| 63 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.06040865 |
| 64 | FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse | 1.02433633 |
| 65 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.02173464 |
| 66 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.01723915 |
| 67 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.01656469 |
| 68 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 1.00471402 |
| 69 | * ER_23166858_ChIP-Seq_MCF-7_Human | 1.00440841 |
| 70 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.00311769 |
| 71 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.00311769 |
| 72 | * GATA3_26560356_Chip-Seq_TH1_Human | 0.99940950 |
| 73 | * BCAT_22108803_ChIP-Seq_LS180_Human | 0.99896164 |
| 74 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 0.99401253 |
| 75 | GBX2_23144817_ChIP-Seq_PC3_Human | 0.98690442 |
| 76 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 0.98121320 |
| 77 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 0.97006977 |
| 78 | * SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 0.95280965 |
| 79 | ETV1_20927104_ChIP-Seq_GIST48_Human | 0.94138750 |
| 80 | * TCF4_23295773_ChIP-Seq_U87_Human | 0.92562242 |
| 81 | * AR_25329375_ChIP-Seq_VCAP_Human | 0.92482521 |
| 82 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 0.91037657 |
| 83 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 0.89422895 |
| 84 | VDR_23849224_ChIP-Seq_CD4+_Human | 0.89273437 |
| 85 | * SMAD3_21741376_ChIP-Seq_EPCs_Human | 0.89027991 |
| 86 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 0.88035355 |
| 87 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 0.85574185 |
| 88 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 0.85181006 |
| 89 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.84801287 |
| 90 | SMAD4_21799915_ChIP-Seq_A2780_Human | 0.84595860 |
| 91 | TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.81831375 |
| 92 | RBPJ_21746931_ChIP-Seq_IB4_Human | 0.81307948 |
| 93 | TP53_22573176_ChIP-Seq_HFKS_Human | 0.80612546 |
| 94 | MYC_19829295_ChIP-Seq_ESCs_Human | 0.80082046 |
| 95 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 0.79662458 |
| 96 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 0.79032944 |
| 97 | * CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 0.78873817 |
| 98 | E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human | 0.78396088 |
| 99 | PHF8_20622853_ChIP-Seq_HELA_Human | 0.78324639 |
| 100 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 0.77971250 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0008877_abnormal_DNA_methylation | 8.13025753 |
| 2 | MP0010368_abnormal_lymphatic_system | 4.54539820 |
| 3 | MP0002210_abnormal_sex_determination | 4.36082125 |
| 4 | MP0001929_abnormal_gametogenesis | 4.18173909 |
| 5 | MP0003698_abnormal_male_reproductive | 3.45789037 |
| 6 | MP0001145_abnormal_male_reproductive | 3.33169308 |
| 7 | MP0008058_abnormal_DNA_repair | 3.30696620 |
| 8 | MP0005410_abnormal_fertilization | 3.24907869 |
| 9 | MP0000653_abnormal_sex_gland | 3.19773702 |
| 10 | MP0010030_abnormal_orbit_morphology | 3.18914131 |
| 11 | MP0003183_abnormal_peptide_metabolism | 2.71209823 |
| 12 | MP0003693_abnormal_embryo_hatching | 2.46029045 |
| 13 | MP0003718_maternal_effect | 2.37493799 |
| 14 | MP0001879_abnormal_lymphatic_vessel | 2.21066944 |
| 15 | MP0008789_abnormal_olfactory_epithelium | 2.14248008 |
| 16 | MP0002161_abnormal_fertility/fecundity | 2.09706632 |
| 17 | MP0002160_abnormal_reproductive_system | 2.07248615 |
| 18 | MP0000678_abnormal_parathyroid_gland | 1.99651938 |
| 19 | MP0000569_abnormal_digit_pigmentation | 1.97039941 |
| 20 | MP0010094_abnormal_chromosome_stability | 1.89782149 |
| 21 | MP0001188_hyperpigmentation | 1.85367629 |
| 22 | MP0001119_abnormal_female_reproductive | 1.76447683 |
| 23 | MP0005174_abnormal_tail_pigmentation | 1.75947054 |
| 24 | MP0003077_abnormal_cell_cycle | 1.75185624 |
| 25 | MP0004957_abnormal_blastocyst_morpholog | 1.73452795 |
| 26 | MP0008057_abnormal_DNA_replication | 1.71627075 |
| 27 | MP0003646_muscle_fatigue | 1.60974737 |
| 28 | MP0005503_abnormal_tendon_morphology | 1.51605832 |
| 29 | MP0003111_abnormal_nucleus_morphology | 1.50169859 |
| 30 | MP0005670_abnormal_white_adipose | 1.49222005 |
| 31 | MP0003699_abnormal_female_reproductive | 1.44277994 |
| 32 | MP0001177_atelectasis | 1.42231698 |
| 33 | MP0003119_abnormal_digestive_system | 1.39181520 |
| 34 | MP0001730_embryonic_growth_arrest | 1.28289777 |
| 35 | MP0002932_abnormal_joint_morphology | 1.16969021 |
| 36 | MP0010307_abnormal_tumor_latency | 1.16663842 |
| 37 | MP0000049_abnormal_middle_ear | 1.14489188 |
| 38 | MP0008932_abnormal_embryonic_tissue | 1.13806138 |
| 39 | MP0002233_abnormal_nose_morphology | 1.12474786 |
| 40 | MP0003385_abnormal_body_wall | 1.09179921 |
| 41 | MP0006292_abnormal_olfactory_placode | 1.08023126 |
| 42 | MP0008260_abnormal_autophagy | 1.06811197 |
| 43 | MP0004147_increased_porphyrin_level | 1.04193973 |
| 44 | MP0000733_abnormal_muscle_development | 1.03185709 |
| 45 | MP0009250_abnormal_appendicular_skeleto | 1.00932015 |
| 46 | MP0002114_abnormal_axial_skeleton | 0.96758388 |
| 47 | MP0005389_reproductive_system_phenotype | 0.96223933 |
| 48 | MP0002085_abnormal_embryonic_tissue | 0.96001037 |
| 49 | MP0000462_abnormal_digestive_system | 0.95310215 |
| 50 | MP0002084_abnormal_developmental_patter | 0.94347316 |
| 51 | MP0003936_abnormal_reproductive_system | 0.91847456 |
| 52 | MP0005058_abnormal_lysosome_morphology | 0.90535415 |
| 53 | MP0001485_abnormal_pinna_reflex | 0.88809525 |
| 54 | MP0008007_abnormal_cellular_replicative | 0.88134948 |
| 55 | MP0003935_abnormal_craniofacial_develop | 0.87747835 |
| 56 | MP0008004_abnormal_stomach_pH | 0.87114706 |
| 57 | MP0005409_darkened_coat_color | 0.86959169 |
| 58 | MP0003567_abnormal_fetal_cardiomyocyte | 0.83936573 |
| 59 | MP0003755_abnormal_palate_morphology | 0.80989465 |
| 60 | MP0002116_abnormal_craniofacial_bone | 0.80376741 |
| 61 | MP0003186_abnormal_redox_activity | 0.79081770 |
| 62 | MP0005380_embryogenesis_phenotype | 0.78628616 |
| 63 | MP0001672_abnormal_embryogenesis/_devel | 0.78628616 |
| 64 | MP0003879_abnormal_hair_cell | 0.77472164 |
| 65 | MP0001299_abnormal_eye_distance/ | 0.77152497 |
| 66 | MP0003937_abnormal_limbs/digits/tail_de | 0.75186505 |
| 67 | MP0009053_abnormal_anal_canal | 0.74314662 |
| 68 | MP0002109_abnormal_limb_morphology | 0.72641717 |
| 69 | MP0005395_other_phenotype | 0.71424920 |
| 70 | MP0002108_abnormal_muscle_morphology | 0.70998352 |
| 71 | MP0002249_abnormal_larynx_morphology | 0.68901536 |
| 72 | MP0003115_abnormal_respiratory_system | 0.68039294 |
| 73 | MP0000350_abnormal_cell_proliferation | 0.66818418 |
| 74 | MP0003136_yellow_coat_color | 0.66709819 |
| 75 | MP0001963_abnormal_hearing_physiology | 0.66007532 |
| 76 | MP0002080_prenatal_lethality | 0.64426584 |
| 77 | MP0004197_abnormal_fetal_growth/weight/ | 0.64109068 |
| 78 | MP0000358_abnormal_cell_content/ | 0.63708511 |
| 79 | MP0005499_abnormal_olfactory_system | 0.63130413 |
| 80 | MP0005394_taste/olfaction_phenotype | 0.63130413 |
| 81 | MP0000015_abnormal_ear_pigmentation | 0.62975168 |
| 82 | MP0004233_abnormal_muscle_weight | 0.61938568 |
| 83 | MP0003861_abnormal_nervous_system | 0.60508937 |
| 84 | MP0000026_abnormal_inner_ear | 0.58397579 |
| 85 | MP0000313_abnormal_cell_death | 0.58239645 |
| 86 | MP0004215_abnormal_myocardial_fiber | 0.58056483 |
| 87 | MP0000432_abnormal_head_morphology | 0.57205510 |
| 88 | MP0002177_abnormal_outer_ear | 0.56359121 |
| 89 | MP0001697_abnormal_embryo_size | 0.55813124 |
| 90 | MP0001270_distended_abdomen | 0.55653106 |
| 91 | MP0005377_hearing/vestibular/ear_phenot | 0.55255427 |
| 92 | MP0003878_abnormal_ear_physiology | 0.55255427 |
| 93 | MP0004133_heterotaxia | 0.54423400 |
| 94 | MP0001346_abnormal_lacrimal_gland | 0.52291295 |
| 95 | MP0005647_abnormal_sex_gland | 0.50665391 |
| 96 | MP0006035_abnormal_mitochondrial_morpho | 0.49538057 |
| 97 | MP0003943_abnormal_hepatobiliary_system | 0.48669254 |
| 98 | MP0001502_abnormal_circadian_rhythm | 0.48477494 |
| 99 | MP0000762_abnormal_tongue_morphology | 0.48044197 |
| 100 | MP0000534_abnormal_ureter_morphology | 0.47072122 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Gonadotropin excess (HP:0000837) | 5.29241345 |
| 2 | Scotoma (HP:0000575) | 4.69795837 |
| 3 | Osteomalacia (HP:0002749) | 4.64486913 |
| 4 | Tubulointerstitial nephritis (HP:0001970) | 4.42614257 |
| 5 | Delayed epiphyseal ossification (HP:0002663) | 4.39632612 |
| 6 | Enlarged epiphyses (HP:0010580) | 4.20939601 |
| 7 | Lip pit (HP:0100267) | 4.13645408 |
| 8 | Abnormality of the costochondral junction (HP:0000919) | 4.04498078 |
| 9 | Volvulus (HP:0002580) | 4.01887337 |
| 10 | Thin bony cortex (HP:0002753) | 3.94099204 |
| 11 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 3.88372429 |
| 12 | Degeneration of the lateral corticospinal tracts (HP:0002314) | 3.80139032 |
| 13 | Atrophy/Degeneration involving the corticospinal tracts (HP:0007372) | 3.80139032 |
| 14 | Chromsome breakage (HP:0040012) | 3.79663556 |
| 15 | Azoospermia (HP:0000027) | 3.61186666 |
| 16 | Horizontal nystagmus (HP:0000666) | 3.39182023 |
| 17 | Abnormality of the corticospinal tract (HP:0002492) | 3.29418366 |
| 18 | Ectopic kidney (HP:0000086) | 3.23910196 |
| 19 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 3.14284889 |
| 20 | Absent/shortened dynein arms (HP:0200106) | 3.14284889 |
| 21 | Abnormal spermatogenesis (HP:0008669) | 2.96634290 |
| 22 | Abnormality of DNA repair (HP:0003254) | 2.93210505 |
| 23 | Median cleft lip (HP:0000161) | 2.76948872 |
| 24 | Male infertility (HP:0003251) | 2.73160079 |
| 25 | Septate vagina (HP:0001153) | 2.65778993 |
| 26 | Supernumerary spleens (HP:0009799) | 2.62734013 |
| 27 | Truncal obesity (HP:0001956) | 2.60936555 |
| 28 | Spontaneous abortion (HP:0005268) | 2.58188140 |
| 29 | Oligodactyly (hands) (HP:0001180) | 2.51320547 |
| 30 | Small intestinal stenosis (HP:0012848) | 2.51030775 |
| 31 | Duodenal stenosis (HP:0100867) | 2.51030775 |
| 32 | Vertebral arch anomaly (HP:0008438) | 2.49741691 |
| 33 | Rickets (HP:0002748) | 2.48314061 |
| 34 | Abnormal lung lobation (HP:0002101) | 2.47902059 |
| 35 | Widely patent fontanelles and sutures (HP:0004492) | 2.45384598 |
| 36 | Abnormality of the renal collecting system (HP:0004742) | 2.43715117 |
| 37 | Broad distal phalanx of finger (HP:0009836) | 2.43257312 |
| 38 | Metaphyseal irregularity (HP:0003025) | 2.40246863 |
| 39 | Shoulder girdle muscle weakness (HP:0003547) | 2.37330003 |
| 40 | Increased nuchal translucency (HP:0010880) | 2.25524115 |
| 41 | Capillary hemangiomas (HP:0005306) | 2.24651963 |
| 42 | Abnormal ciliary motility (HP:0012262) | 2.23917754 |
| 43 | Nephronophthisis (HP:0000090) | 2.22752925 |
| 44 | Tubulointerstitial abnormality (HP:0001969) | 2.18653585 |
| 45 | Horseshoe kidney (HP:0000085) | 2.15151480 |
| 46 | Hypergonadotropic hypogonadism (HP:0000815) | 2.14320952 |
| 47 | Hypophosphatemic rickets (HP:0004912) | 2.12172025 |
| 48 | Metaphyseal cupping (HP:0003021) | 2.08784274 |
| 49 | Aplasia/Hypoplasia of the tibia (HP:0005772) | 2.08745822 |
| 50 | Impaired vibration sensation in the lower limbs (HP:0002166) | 2.08522063 |
| 51 | Infertility (HP:0000789) | 2.07332576 |
| 52 | Short tibia (HP:0005736) | 2.07283253 |
| 53 | Abnormal auditory evoked potentials (HP:0006958) | 2.04838632 |
| 54 | Central scotoma (HP:0000603) | 2.02926780 |
| 55 | Facial hemangioma (HP:0000329) | 2.02440000 |
| 56 | Retinal dysplasia (HP:0007973) | 1.99577979 |
| 57 | Abnormality of chromosome segregation (HP:0002916) | 1.98687901 |
| 58 | Abnormality of the duodenum (HP:0002246) | 1.91713086 |
| 59 | Heterotopia (HP:0002282) | 1.91073190 |
| 60 | Bell-shaped thorax (HP:0001591) | 1.90121089 |
| 61 | Abnormality of the phalanges of the hallux (HP:0010057) | 1.89274175 |
| 62 | Abnormality of the renal medulla (HP:0100957) | 1.88598290 |
| 63 | Anterior segment dysgenesis (HP:0007700) | 1.88006899 |
| 64 | Anteriorly placed anus (HP:0001545) | 1.87537807 |
| 65 | Midline defect of the nose (HP:0004122) | 1.86473486 |
| 66 | Absent radius (HP:0003974) | 1.85895465 |
| 67 | Oligodactyly (HP:0012165) | 1.84682663 |
| 68 | Chronic hepatic failure (HP:0100626) | 1.84540878 |
| 69 | Duplicated collecting system (HP:0000081) | 1.81390236 |
| 70 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 1.80915889 |
| 71 | Microglossia (HP:0000171) | 1.80316785 |
| 72 | Leiomyosarcoma (HP:0100243) | 1.79522508 |
| 73 | Uterine leiomyosarcoma (HP:0002891) | 1.79522508 |
| 74 | Abnormality of lateral ventricle (HP:0030047) | 1.79169392 |
| 75 | Flat occiput (HP:0005469) | 1.78376670 |
| 76 | Rhabdomyosarcoma (HP:0002859) | 1.77040522 |
| 77 | Abnormality of midbrain morphology (HP:0002418) | 1.75784207 |
| 78 | Molar tooth sign on MRI (HP:0002419) | 1.75784207 |
| 79 | Abnormal respiratory motile cilium physiology (HP:0012261) | 1.74182687 |
| 80 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 1.73220126 |
| 81 | Wide cranial sutures (HP:0010537) | 1.72319644 |
| 82 | Genetic anticipation (HP:0003743) | 1.72112895 |
| 83 | Reticulocytopenia (HP:0001896) | 1.71525314 |
| 84 | Rectovaginal fistula (HP:0000143) | 1.71094637 |
| 85 | Rectal fistula (HP:0100590) | 1.71094637 |
| 86 | Proximal tubulopathy (HP:0000114) | 1.70312975 |
| 87 | Astigmatism (HP:0000483) | 1.70078953 |
| 88 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 1.69509608 |
| 89 | Aplasia involving forearm bones (HP:0009822) | 1.69449311 |
| 90 | Absent forearm bone (HP:0003953) | 1.69449311 |
| 91 | Poikiloderma (HP:0001029) | 1.68920880 |
| 92 | Abnormality of chromosome stability (HP:0003220) | 1.66036790 |
| 93 | Proximal placement of thumb (HP:0009623) | 1.64883498 |
| 94 | Abnormal respiratory epithelium morphology (HP:0012253) | 1.64841672 |
| 95 | Abnormal respiratory motile cilium morphology (HP:0005938) | 1.64841672 |
| 96 | Impulsivity (HP:0100710) | 1.64616598 |
| 97 | Neoplasm of the oral cavity (HP:0100649) | 1.63719758 |
| 98 | Severe visual impairment (HP:0001141) | 1.63444278 |
| 99 | Non-midline cleft lip (HP:0100335) | 1.62745237 |
| 100 | Menstrual irregularities (HP:0000858) | 1.62695851 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | CDK19 | 5.84639296 |
| 2 | ACVR1B | 5.63384129 |
| 3 | PNCK | 5.62910903 |
| 4 | PLK4 | 3.78555210 |
| 5 | TTK | 3.21385349 |
| 6 | CDK12 | 2.61406891 |
| 7 | WNK1 | 2.33466629 |
| 8 | STK38L | 2.25101184 |
| 9 | KSR2 | 2.19177203 |
| 10 | MAP3K2 | 2.16709494 |
| 11 | BRAF | 2.13997037 |
| 12 | NTRK3 | 2.01307981 |
| 13 | MET | 1.96034961 |
| 14 | NEK9 | 1.92221996 |
| 15 | STK39 | 1.81893435 |
| 16 | STK24 | 1.73379154 |
| 17 | MST1R | 1.69485983 |
| 18 | WNK4 | 1.67316880 |
| 19 | PLK1 | 1.59400740 |
| 20 | STK38 | 1.51713589 |
| 21 | TYRO3 | 1.51534521 |
| 22 | BRD4 | 1.39828212 |
| 23 | WEE1 | 1.36608213 |
| 24 | STK16 | 1.27965118 |
| 25 | STK3 | 1.26690180 |
| 26 | NEK6 | 1.24714645 |
| 27 | CDC7 | 1.16014623 |
| 28 | RAF1 | 1.11793062 |
| 29 | ZAK | 1.11093676 |
| 30 | KSR1 | 1.10694913 |
| 31 | AURKA | 1.05388472 |
| 32 | PBK | 1.05375873 |
| 33 | CAMK1G | 1.04157754 |
| 34 | CHEK1 | 0.96411920 |
| 35 | BMPR1B | 0.96345574 |
| 36 | PLK2 | 0.89484407 |
| 37 | CLK1 | 0.89341192 |
| 38 | DDR2 | 0.88974130 |
| 39 | BRSK1 | 0.88674911 |
| 40 | PIK3CG | 0.87567372 |
| 41 | CDK7 | 0.86514290 |
| 42 | EIF2AK3 | 0.84941504 |
| 43 | MAP3K1 | 0.81608142 |
| 44 | MAP3K13 | 0.80716419 |
| 45 | PTK2B | 0.78898228 |
| 46 | ATR | 0.77450087 |
| 47 | NEK2 | 0.74401483 |
| 48 | MATK | 0.74315537 |
| 49 | MAP3K8 | 0.71257030 |
| 50 | CDK3 | 0.71113719 |
| 51 | BUB1 | 0.70051211 |
| 52 | DYRK1A | 0.67140812 |
| 53 | CHEK2 | 0.66045149 |
| 54 | KIT | 0.64517456 |
| 55 | OXSR1 | 0.63194226 |
| 56 | ATM | 0.62648909 |
| 57 | MAP3K12 | 0.61120376 |
| 58 | CDK9 | 0.59820611 |
| 59 | MAP3K4 | 0.58973069 |
| 60 | CDK8 | 0.58324803 |
| 61 | PASK | 0.57822863 |
| 62 | PINK1 | 0.56182942 |
| 63 | PDK2 | 0.53530193 |
| 64 | CDK4 | 0.51993670 |
| 65 | INSRR | 0.50314252 |
| 66 | BRSK2 | 0.48456847 |
| 67 | SCYL2 | 0.48116034 |
| 68 | MOS | 0.47939883 |
| 69 | ARAF | 0.46382937 |
| 70 | CDK2 | 0.46271238 |
| 71 | PRKCI | 0.46175768 |
| 72 | MKNK2 | 0.45947133 |
| 73 | CDK1 | 0.44242084 |
| 74 | MAP3K9 | 0.44129164 |
| 75 | MARK3 | 0.43653223 |
| 76 | EPHA4 | 0.41976949 |
| 77 | LATS1 | 0.41670324 |
| 78 | CDK11A | 0.41143297 |
| 79 | PRKG1 | 0.39074631 |
| 80 | PTK2 | 0.38588159 |
| 81 | SGK1 | 0.37457426 |
| 82 | RPS6KB1 | 0.36408563 |
| 83 | RET | 0.35294343 |
| 84 | ERBB3 | 0.34052116 |
| 85 | PDGFRA | 0.33971943 |
| 86 | DYRK3 | 0.33732369 |
| 87 | AURKB | 0.33049344 |
| 88 | ERBB4 | 0.31765527 |
| 89 | GRK1 | 0.28872800 |
| 90 | PRKACB | 0.27687501 |
| 91 | PDGFRB | 0.27318065 |
| 92 | MELK | 0.26061680 |
| 93 | FGFR3 | 0.25969187 |
| 94 | PLK3 | 0.25567815 |
| 95 | TESK1 | 0.25276966 |
| 96 | MAPK1 | 0.24950963 |
| 97 | TAOK3 | 0.23773546 |
| 98 | CCNB1 | 0.21913536 |
| 99 | MTOR | 0.21516120 |
| 100 | RPS6KC1 | 0.21508772 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 4.16992475 |
| 2 | Mismatch repair_Homo sapiens_hsa03430 | 3.74857854 |
| 3 | Cell cycle_Homo sapiens_hsa04110 | 3.67823387 |
| 4 | Basal transcription factors_Homo sapiens_hsa03022 | 3.42348653 |
| 5 | Homologous recombination_Homo sapiens_hsa03440 | 3.27183608 |
| 6 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 2.98221539 |
| 7 | DNA replication_Homo sapiens_hsa03030 | 2.96948201 |
| 8 | RNA transport_Homo sapiens_hsa03013 | 2.95679713 |
| 9 | Nucleotide excision repair_Homo sapiens_hsa03420 | 2.94680175 |
| 10 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 2.92610801 |
| 11 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 2.87394047 |
| 12 | Oocyte meiosis_Homo sapiens_hsa04114 | 2.87040300 |
| 13 | Non-homologous end-joining_Homo sapiens_hsa03450 | 2.76793424 |
| 14 | Base excision repair_Homo sapiens_hsa03410 | 2.66314213 |
| 15 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 2.00773715 |
| 16 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.95681718 |
| 17 | p53 signaling pathway_Homo sapiens_hsa04115 | 1.87001934 |
| 18 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.67985463 |
| 19 | Sulfur relay system_Homo sapiens_hsa04122 | 1.58268186 |
| 20 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 1.54067589 |
| 21 | RNA degradation_Homo sapiens_hsa03018 | 1.33249723 |
| 22 | ABC transporters_Homo sapiens_hsa02010 | 1.30246330 |
| 23 | Olfactory transduction_Homo sapiens_hsa04740 | 1.28853399 |
| 24 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 1.25357495 |
| 25 | Wnt signaling pathway_Homo sapiens_hsa04310 | 1.23041721 |
| 26 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 1.21948523 |
| 27 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.19109467 |
| 28 | Folate biosynthesis_Homo sapiens_hsa00790 | 1.11013721 |
| 29 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 1.10381753 |
| 30 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.09856319 |
| 31 | mTOR signaling pathway_Homo sapiens_hsa04150 | 1.07485310 |
| 32 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.01628062 |
| 33 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.96639936 |
| 34 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.94113217 |
| 35 | Circadian rhythm_Homo sapiens_hsa04710 | 0.93382463 |
| 36 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.86439610 |
| 37 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.84952760 |
| 38 | RNA polymerase_Homo sapiens_hsa03020 | 0.77109269 |
| 39 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.76268021 |
| 40 | HTLV-I infection_Homo sapiens_hsa05166 | 0.75886691 |
| 41 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.74317791 |
| 42 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.66191400 |
| 43 | Purine metabolism_Homo sapiens_hsa00230 | 0.64998112 |
| 44 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.64480045 |
| 45 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.64415733 |
| 46 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.63628973 |
| 47 | Lysine degradation_Homo sapiens_hsa00310 | 0.61849557 |
| 48 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.61565093 |
| 49 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.61427471 |
| 50 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.58686905 |
| 51 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.55817759 |
| 52 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.54245776 |
| 53 | Gap junction_Homo sapiens_hsa04540 | 0.53828883 |
| 54 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.52085542 |
| 55 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.49682524 |
| 56 | Phototransduction_Homo sapiens_hsa04744 | 0.48623894 |
| 57 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.46142268 |
| 58 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.45950395 |
| 59 | Endocytosis_Homo sapiens_hsa04144 | 0.45853086 |
| 60 | Small cell lung cancer_Homo sapiens_hsa05222 | 0.45055626 |
| 61 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 0.44314734 |
| 62 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.43764799 |
| 63 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.40739811 |
| 64 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.40699725 |
| 65 | FoxO signaling pathway_Homo sapiens_hsa04068 | 0.38731950 |
| 66 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.37543297 |
| 67 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.37292517 |
| 68 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.36320745 |
| 69 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.35334162 |
| 70 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.33701927 |
| 71 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.33136497 |
| 72 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.32891006 |
| 73 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 0.32665888 |
| 74 | Colorectal cancer_Homo sapiens_hsa05210 | 0.32138359 |
| 75 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.31139071 |
| 76 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.30745841 |
| 77 | Melanoma_Homo sapiens_hsa05218 | 0.30442084 |
| 78 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.30214499 |
| 79 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.29414753 |
| 80 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.27711241 |
| 81 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.27408068 |
| 82 | Pathways in cancer_Homo sapiens_hsa05200 | 0.27243322 |
| 83 | Ribosome_Homo sapiens_hsa03010 | 0.27210334 |
| 84 | Taste transduction_Homo sapiens_hsa04742 | 0.26521425 |
| 85 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.26305552 |
| 86 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.25253121 |
| 87 | Spliceosome_Homo sapiens_hsa03040 | 0.25127467 |
| 88 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.24957396 |
| 89 | Retinol metabolism_Homo sapiens_hsa00830 | 0.24256221 |
| 90 | Prion diseases_Homo sapiens_hsa05020 | 0.22586388 |
| 91 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.22021640 |
| 92 | Long-term depression_Homo sapiens_hsa04730 | 0.21286812 |
| 93 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 0.20609679 |
| 94 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.20043819 |
| 95 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.19898646 |
| 96 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.19189717 |
| 97 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 0.19065566 |
| 98 | Nicotine addiction_Homo sapiens_hsa05033 | 0.18656579 |
| 99 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.18176517 |
| 100 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 0.16715454 |

