

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | regulation of acrosome reaction (GO:0060046) | 8.84421058 |
| 2 | regulation of female gonad development (GO:2000194) | 8.45710772 |
| 3 | positive regulation of humoral immune response (GO:0002922) | 7.49239714 |
| 4 | oocyte development (GO:0048599) | 7.40940716 |
| 5 | multicellular organism reproduction (GO:0032504) | 7.36862516 |
| 6 | regulation of DNA methylation (GO:0044030) | 6.91830395 |
| 7 | regulation of histone H3-K9 methylation (GO:0051570) | 6.46125274 |
| 8 | regulation of meiosis I (GO:0060631) | 6.16727990 |
| 9 | protein kinase C signaling (GO:0070528) | 6.14846873 |
| 10 | piRNA metabolic process (GO:0034587) | 5.97223507 |
| 11 | B cell receptor signaling pathway (GO:0050853) | 5.63492772 |
| 12 | meiotic cell cycle (GO:0051321) | 5.33654756 |
| 13 | negative regulation of histone methylation (GO:0031061) | 5.31562604 |
| 14 | immunoglobulin mediated immune response (GO:0016064) | 5.27485887 |
| 15 | negative regulation of reproductive process (GO:2000242) | 5.09200343 |
| 16 | reproduction (GO:0000003) | 4.97284484 |
| 17 | mitotic chromosome condensation (GO:0007076) | 4.94921881 |
| 18 | DNA methylation involved in gamete generation (GO:0043046) | 4.81425027 |
| 19 | positive regulation of histone H3-K4 methylation (GO:0051571) | 4.68764580 |
| 20 | binding of sperm to zona pellucida (GO:0007339) | 4.64079788 |
| 21 | female gamete generation (GO:0007292) | 4.47150538 |
| 22 | citrulline biosynthetic process (GO:0019240) | 4.44600375 |
| 23 | regulation of hypersensitivity (GO:0002883) | 4.43158279 |
| 24 | positive regulation of calcium ion-dependent exocytosis (GO:0045956) | 4.29593620 |
| 25 | B cell mediated immunity (GO:0019724) | 4.29407857 |
| 26 | regulation of antigen processing and presentation of peptide antigen (GO:0002583) | 3.94867965 |
| 27 | positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101) | 3.78074252 |
| 28 | positive regulation of mitotic sister chromatid separation (GO:1901970) | 3.78074252 |
| 29 | positive regulation of mitotic metaphase/anaphase transition (GO:0045842) | 3.78074252 |
| 30 | sperm-egg recognition (GO:0035036) | 3.75097537 |
| 31 | regulation of B cell receptor signaling pathway (GO:0050855) | 3.73078921 |
| 32 | protein localization to chromosome, centromeric region (GO:0071459) | 3.66305219 |
| 33 | regulation of interferon-beta biosynthetic process (GO:0045357) | 3.64691512 |
| 34 | retinal cone cell development (GO:0046549) | 3.59954446 |
| 35 | regulation of histone methylation (GO:0031060) | 3.56035562 |
| 36 | positive regulation of histone methylation (GO:0031062) | 3.52039722 |
| 37 | positive regulation of interferon-gamma biosynthetic process (GO:0045078) | 3.51241114 |
| 38 | DNA alkylation (GO:0006305) | 3.49539018 |
| 39 | DNA methylation (GO:0006306) | 3.49539018 |
| 40 | regulation of steroid hormone secretion (GO:2000831) | 3.46558416 |
| 41 | gene silencing by RNA (GO:0031047) | 3.45462163 |
| 42 | single fertilization (GO:0007338) | 3.45088704 |
| 43 | positive regulation of inflammatory response to antigenic stimulus (GO:0002863) | 3.41582708 |
| 44 | positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770) | 3.40524273 |
| 45 | fertilization (GO:0009566) | 3.33616676 |
| 46 | negative regulation of cAMP-mediated signaling (GO:0043951) | 3.33584878 |
| 47 | positive regulation of interleukin-4 production (GO:0032753) | 3.30054520 |
| 48 | protein localization to kinetochore (GO:0034501) | 3.26385100 |
| 49 | positive regulation of isotype switching (GO:0045830) | 3.23754920 |
| 50 | synapsis (GO:0007129) | 3.21785136 |
| 51 | positive regulation of chromosome segregation (GO:0051984) | 3.21737455 |
| 52 | regulation of RNA export from nucleus (GO:0046831) | 3.20985762 |
| 53 | cell-cell recognition (GO:0009988) | 3.20785873 |
| 54 | antigen processing and presentation of endogenous antigen (GO:0019883) | 3.18341528 |
| 55 | regulation of chromatin binding (GO:0035561) | 3.15433606 |
| 56 | histone H3-K36 demethylation (GO:0070544) | 3.15284495 |
| 57 | regulation of histone H3-K4 methylation (GO:0051569) | 3.13821736 |
| 58 | B cell proliferation (GO:0042100) | 3.11550784 |
| 59 | regulation of germinal center formation (GO:0002634) | 3.10007273 |
| 60 | regulation of chromatin silencing (GO:0031935) | 3.08566957 |
| 61 | positive regulation of B cell differentiation (GO:0045579) | 3.05303808 |
| 62 | positive thymic T cell selection (GO:0045059) | 3.03545015 |
| 63 | regulation of interleukin-4 production (GO:0032673) | 3.03368241 |
| 64 | regulation of antigen processing and presentation (GO:0002577) | 3.02985140 |
| 65 | regulation of cell maturation (GO:1903429) | 3.02918157 |
| 66 | negative regulation of histone modification (GO:0031057) | 2.99767783 |
| 67 | positive regulation of DNA recombination (GO:0045911) | 2.99615895 |
| 68 | interkinetic nuclear migration (GO:0022027) | 2.98389962 |
| 69 | N-terminal protein amino acid acetylation (GO:0006474) | 2.98065796 |
| 70 | regulation of dendritic cell antigen processing and presentation (GO:0002604) | 2.97121837 |
| 71 | protein localization to chromosome (GO:0034502) | 2.96558835 |
| 72 | positive regulation of gene expression, epigenetic (GO:0045815) | 2.96247851 |
| 73 | positive regulation of gamma-delta T cell activation (GO:0046645) | 2.93811601 |
| 74 | synaptonemal complex assembly (GO:0007130) | 2.90547163 |
| 75 | regulation of acute inflammatory response to antigenic stimulus (GO:0002864) | 2.88857160 |
| 76 | defense response to protozoan (GO:0042832) | 2.88647941 |
| 77 | centriole replication (GO:0007099) | 2.83901485 |
| 78 | negative regulation of chromatin modification (GO:1903309) | 2.83459939 |
| 79 | attachment of spindle microtubules to kinetochore (GO:0008608) | 2.82442042 |
| 80 | primitive streak formation (GO:0090009) | 2.82217480 |
| 81 | negative regulation of gene silencing (GO:0060969) | 2.81474647 |
| 82 | establishment of chromosome localization (GO:0051303) | 2.80782690 |
| 83 | positive regulation of reproductive process (GO:2000243) | 2.79460184 |
| 84 | gene silencing (GO:0016458) | 2.77770215 |
| 85 | positive regulation of B cell activation (GO:0050871) | 2.76348839 |
| 86 | chromosome organization involved in meiosis (GO:0070192) | 2.76306135 |
| 87 | negative regulation of retinoic acid receptor signaling pathway (GO:0048387) | 2.75249631 |
| 88 | histone H3-K4 methylation (GO:0051568) | 2.74366603 |
| 89 | mitotic metaphase plate congression (GO:0007080) | 2.72828995 |
| 90 | regulation of phospholipid biosynthetic process (GO:0071071) | 2.71524757 |
| 91 | phosphatidylinositol dephosphorylation (GO:0046856) | 2.70894113 |
| 92 | regulation of mast cell degranulation (GO:0043304) | 2.70613307 |
| 93 | DNA methylation or demethylation (GO:0044728) | 2.69879676 |
| 94 | regulation of B cell differentiation (GO:0045577) | 2.69062440 |
| 95 | male meiosis I (GO:0007141) | 2.69008112 |
| 96 | regulation of reproductive process (GO:2000241) | 2.67969648 |
| 97 | DNA replication checkpoint (GO:0000076) | 2.67775829 |
| 98 | regulation of interferon-gamma biosynthetic process (GO:0045072) | 2.65524544 |
| 99 | oogenesis (GO:0048477) | 2.64611081 |
| 100 | antigen receptor-mediated signaling pathway (GO:0050851) | 2.61948650 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | E2F7_22180533_ChIP-Seq_HELA_Human | 5.30164724 |
| 2 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 4.39719780 |
| 3 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 3.81908183 |
| 4 | MYC_22102868_ChIP-Seq_BL_Human | 3.75914540 |
| 5 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 3.70214484 |
| 6 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 2.91512253 |
| 7 | E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human | 2.81886101 |
| 8 | IRF8_22096565_ChIP-ChIP_GC-B_Mouse | 2.70807599 |
| 9 | IRF8_21731497_ChIP-ChIP_J774_Mouse | 2.64051612 |
| 10 | SPI1_22096565_ChIP-ChIP_GC-B_Mouse | 2.53099550 |
| 11 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 2.51432690 |
| 12 | NOTCH1_21737748_ChIP-Seq_TLL_Human | 2.49051030 |
| 13 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 2.42140047 |
| 14 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 2.17536791 |
| 15 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 2.16390458 |
| 16 | STAT6_20620947_ChIP-Seq_CD4_POS_T_Human | 2.13818854 |
| 17 | VDR_21846776_ChIP-Seq_THP-1_Human | 2.00035185 |
| 18 | EZH2_22144423_ChIP-Seq_EOC_Human | 12.6625951 |
| 19 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.87380951 |
| 20 | CIITA_25753668_ChIP-Seq_RAJI_Human | 1.85081804 |
| 21 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 1.75132736 |
| 22 | FOXP3_17237761_ChIP-ChIP_TREG_Mouse | 1.74357860 |
| 23 | MYB_26560356_Chip-Seq_TH1_Human | 1.69900798 |
| 24 | VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human | 1.68372005 |
| 25 | * MYB_26560356_Chip-Seq_TH2_Human | 1.62320025 |
| 26 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.58186237 |
| 27 | MECOM_23826213_ChIP-Seq_KASUMI_Mouse | 1.57057286 |
| 28 | VDR_24763502_ChIP-Seq_THP-1_Human | 1.52795689 |
| 29 | SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse | 1.49349662 |
| 30 | FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse | 1.49030628 |
| 31 | UTX_26944678_Chip-Seq_JUKART_Human | 1.46719329 |
| 32 | KLF2_18264089_ChIP-ChIP_MESCs_Mouse | 1.43770159 |
| 33 | KLF5_18264089_ChIP-ChIP_MESCs_Mouse | 1.43770159 |
| 34 | KLF4_18264089_ChIP-ChIP_MESCs_Mouse | 1.43770159 |
| 35 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 1.41559056 |
| 36 | SCL_19346495_ChIP-Seq_HPC-7_Human | 1.36274237 |
| 37 | FOXP3_21729870_ChIP-Seq_TREG_Human | 1.35438807 |
| 38 | IRF8_27001747_Chip-Seq_BMDM_Mouse | 1.35353566 |
| 39 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.35140293 |
| 40 | SPI1_23547873_ChIP-Seq_NB4_Human | 1.33901821 |
| 41 | SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse | 1.31172662 |
| 42 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.30132340 |
| 43 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.28619921 |
| 44 | SPI1_23127762_ChIP-Seq_K562_Human | 1.28214081 |
| 45 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.26667791 |
| 46 | STAT4_19710469_ChIP-ChIP_TH1__Mouse | 1.18482458 |
| 47 | IRF1_21803131_ChIP-Seq_MONOCYTES_Human | 1.17350402 |
| 48 | GATA3_27048872_Chip-Seq_THYMUS_Human | 1.16427040 |
| 49 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.15995970 |
| 50 | TCF7_22412390_ChIP-Seq_EML_Mouse | 1.15399709 |
| 51 | MAF_26560356_Chip-Seq_TH1_Human | 1.14857312 |
| 52 | RUNX1_22412390_ChIP-Seq_EML_Mouse | 1.13172937 |
| 53 | MEIS1_20887958_ChIP-Seq_HPC-7_Mouse | 1.11394206 |
| 54 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.03994306 |
| 55 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.03637588 |
| 56 | HOXB4_20404135_ChIP-ChIP_EML_Mouse | 1.02918581 |
| 57 | MYB_21317192_ChIP-Seq_ERMYB_Mouse | 1.01967758 |
| 58 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.01777627 |
| 59 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 1.00454169 |
| 60 | BCOR_27268052_Chip-Seq_Bcells_Human | 0.99043860 |
| 61 | VDR_23849224_ChIP-Seq_CD4+_Human | 0.97545279 |
| 62 | NANOG_18555785_ChIP-Seq_MESCs_Mouse | 0.96046677 |
| 63 | GATA3_26560356_Chip-Seq_TH1_Human | 0.94873369 |
| 64 | RUNX1_20887958_ChIP-Seq_HPC-7_Mouse | 0.94494572 |
| 65 | P300_27268052_Chip-Seq_Bcells_Human | 0.93721641 |
| 66 | KDM2B_26808549_Chip-Seq_HPB-ALL_Human | 0.90836614 |
| 67 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 0.90626065 |
| 68 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 0.88860670 |
| 69 | FLI1_20887958_ChIP-Seq_HPC-7_Mouse | 0.88718973 |
| 70 | TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse | 0.88594270 |
| 71 | SFPI1_20887958_ChIP-Seq_HPC-7_Mouse | 0.88516769 |
| 72 | ASXL1_24218140_ChIP-Seq_BMDM_Mouse | 0.87969776 |
| 73 | MAF_26560356_Chip-Seq_TH2_Human | 0.87681549 |
| 74 | BCL6_25482012_ChIP-Seq_CML-JURL-MK1_Human | 0.87056645 |
| 75 | PU.1_20513432_ChIP-Seq_Bcells_Mouse | 0.86371711 |
| 76 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.86057027 |
| 77 | NANOG_20526341_ChIP-Seq_ESCs_Human | 0.83315990 |
| 78 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 0.81785585 |
| 79 | GATA1_19941827_ChIP-Seq_MEL86_Mouse | 0.81681500 |
| 80 | HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse | 0.81350591 |
| 81 | ERG_20887958_ChIP-Seq_HPC-7_Mouse | 0.80595567 |
| 82 | BRD4_27068464_Chip-Seq_AML-cells_Mouse | 0.79249941 |
| 83 | OCT4_19829295_ChIP-Seq_ESCs_Human | 0.79139360 |
| 84 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 0.78298172 |
| 85 | TAL1_20887958_ChIP-Seq_HPC-7_Mouse | 0.77500334 |
| 86 | GATA2_22383799_ChIP-Seq_G1ME_Mouse | 0.76762511 |
| 87 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 0.76201648 |
| 88 | GATA1_19941827_ChIP-Seq_MEL_Mouse | 0.75242976 |
| 89 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 0.74349403 |
| 90 | GATA3_26560356_Chip-Seq_TH2_Human | 0.74107590 |
| 91 | GATA1_22383799_ChIP-Seq_G1ME_Mouse | 0.74103272 |
| 92 | P68_20966046_ChIP-Seq_HELA_Human | 0.72255016 |
| 93 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 0.71642768 |
| 94 | KDM2B_26808549_Chip-Seq_SUP-B15_Human | 0.68753865 |
| 95 | * CTCF_21964334_Chip-Seq_Bcells_Human | 0.68622425 |
| 96 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 0.68394295 |
| 97 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 0.68009599 |
| 98 | CTCF_26484167_Chip-Seq_Bcells_Mouse | 0.67054722 |
| 99 | ETS1_22383799_ChIP-Seq_G1ME_Mouse | 0.66663904 |
| 100 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 0.66326040 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003718_maternal_effect | 5.86277522 |
| 2 | MP0008877_abnormal_DNA_methylation | 3.77028492 |
| 3 | MP0002138_abnormal_hepatobiliary_system | 3.48872173 |
| 4 | MP0008057_abnormal_DNA_replication | 3.47315433 |
| 5 | MP0001790_abnormal_immune_system | 3.15558456 |
| 6 | MP0005387_immune_system_phenotype | 3.15558456 |
| 7 | MP0003693_abnormal_embryo_hatching | 3.11988993 |
| 8 | MP0006292_abnormal_olfactory_placode | 3.08797626 |
| 9 | MP0001800_abnormal_humoral_immune | 3.02751275 |
| 10 | MP0003183_abnormal_peptide_metabolism | 2.94671303 |
| 11 | MP0001835_abnormal_antigen_presentation | 2.74544419 |
| 12 | MP0002139_abnormal_hepatobiliary_system | 2.62549374 |
| 13 | MP0010094_abnormal_chromosome_stability | 2.51904901 |
| 14 | MP0000685_abnormal_immune_system | 2.47418801 |
| 15 | MP0003077_abnormal_cell_cycle | 2.41334157 |
| 16 | MP0002452_abnormal_antigen_presenting | 2.26121279 |
| 17 | MP0005395_other_phenotype | 2.17212822 |
| 18 | MP0003699_abnormal_female_reproductive | 2.16618411 |
| 19 | MP0008058_abnormal_DNA_repair | 2.15875935 |
| 20 | MP0002420_abnormal_adaptive_immunity | 2.15543461 |
| 21 | MP0001929_abnormal_gametogenesis | 2.13562132 |
| 22 | MP0003111_abnormal_nucleus_morphology | 2.12590892 |
| 23 | MP0002398_abnormal_bone_marrow | 2.09742148 |
| 24 | MP0001819_abnormal_immune_cell | 2.06597149 |
| 25 | MP0002723_abnormal_immune_serum | 2.05099495 |
| 26 | MP0005671_abnormal_response_to | 2.00901391 |
| 27 | MP0003763_abnormal_thymus_physiology | 1.99947442 |
| 28 | MP0005075_abnormal_melanosome_morpholog | 1.99667056 |
| 29 | MP0008789_abnormal_olfactory_epithelium | 1.95756921 |
| 30 | MP0005000_abnormal_immune_tolerance | 1.92966247 |
| 31 | MP0005394_taste/olfaction_phenotype | 1.88560320 |
| 32 | MP0005499_abnormal_olfactory_system | 1.88560320 |
| 33 | MP0000015_abnormal_ear_pigmentation | 1.84419557 |
| 34 | MP0000689_abnormal_spleen_morphology | 1.82393771 |
| 35 | MP0002210_abnormal_sex_determination | 1.76268788 |
| 36 | MP0000716_abnormal_immune_system | 1.70697945 |
| 37 | MP0002396_abnormal_hematopoietic_system | 1.65020373 |
| 38 | MP0001730_embryonic_growth_arrest | 1.57453880 |
| 39 | MP0002722_abnormal_immune_system | 1.52111369 |
| 40 | MP0003436_decreased_susceptibility_to | 1.46891175 |
| 41 | MP0003890_abnormal_embryonic-extraembry | 1.46117402 |
| 42 | MP0003303_peritoneal_inflammation | 1.43330499 |
| 43 | MP0000653_abnormal_sex_gland | 1.42042122 |
| 44 | MP0005025_abnormal_response_to | 1.40764051 |
| 45 | MP0005645_abnormal_hypothalamus_physiol | 1.37381429 |
| 46 | MP0001119_abnormal_female_reproductive | 1.36324284 |
| 47 | MP0002429_abnormal_blood_cell | 1.35970985 |
| 48 | MP0000703_abnormal_thymus_morphology | 1.27357345 |
| 49 | MP0002161_abnormal_fertility/fecundity | 1.26035627 |
| 50 | MP0010307_abnormal_tumor_latency | 1.25517819 |
| 51 | MP0002419_abnormal_innate_immunity | 1.21027676 |
| 52 | MP0009785_altered_susceptibility_to | 1.17204370 |
| 53 | MP0001986_abnormal_taste_sensitivity | 1.15627602 |
| 54 | MP0003950_abnormal_plasma_membrane | 1.12091194 |
| 55 | MP0000350_abnormal_cell_proliferation | 1.11742651 |
| 56 | MP0005310_abnormal_salivary_gland | 1.10787921 |
| 57 | MP0002019_abnormal_tumor_incidence | 1.10751885 |
| 58 | MP0002928_abnormal_bile_duct | 1.10193993 |
| 59 | MP0002148_abnormal_hypersensitivity_rea | 1.08591753 |
| 60 | MP0000465_gastrointestinal_hemorrhage | 1.06274581 |
| 61 | MP0003252_abnormal_bile_duct | 1.05225657 |
| 62 | MP0003172_abnormal_lysosome_physiology | 1.04968970 |
| 63 | MP0001145_abnormal_male_reproductive | 1.03198111 |
| 64 | MP0010234_abnormal_vibrissa_follicle | 1.00037345 |
| 65 | MP0004381_abnormal_hair_follicle | 0.99207190 |
| 66 | MP0005174_abnormal_tail_pigmentation | 0.98958081 |
| 67 | MP0002405_respiratory_system_inflammati | 0.98235853 |
| 68 | MP0010155_abnormal_intestine_physiology | 0.96396850 |
| 69 | MP0004957_abnormal_blastocyst_morpholog | 0.94118315 |
| 70 | MP0000313_abnormal_cell_death | 0.91898425 |
| 71 | MP0009840_abnormal_foam_cell | 0.85620275 |
| 72 | MP0005360_urolithiasis | 0.85380774 |
| 73 | MP0003879_abnormal_hair_cell | 0.85255696 |
| 74 | MP0009333_abnormal_splenocyte_physiolog | 0.83686996 |
| 75 | MP0005410_abnormal_fertilization | 0.81195028 |
| 76 | MP0000490_abnormal_crypts_of | 0.80305630 |
| 77 | MP0003698_abnormal_male_reproductive | 0.79363340 |
| 78 | MP0001845_abnormal_inflammatory_respons | 0.78563377 |
| 79 | MP0005389_reproductive_system_phenotype | 0.78403575 |
| 80 | MP0001672_abnormal_embryogenesis/_devel | 0.73642552 |
| 81 | MP0005380_embryogenesis_phenotype | 0.73642552 |
| 82 | MP0003959_abnormal_lean_body | 0.73403024 |
| 83 | MP0003121_genomic_imprinting | 0.70404926 |
| 84 | MP0002095_abnormal_skin_pigmentation | 0.69393768 |
| 85 | MP0001764_abnormal_homeostasis | 0.66580054 |
| 86 | MP0002163_abnormal_gland_morphology | 0.64050739 |
| 87 | MP0001919_abnormal_reproductive_system | 0.63928158 |
| 88 | MP0004808_abnormal_hematopoietic_stem | 0.61773895 |
| 89 | MP0010368_abnormal_lymphatic_system | 0.61732936 |
| 90 | MP0002234_abnormal_pharynx_morphology | 0.61495406 |
| 91 | MP0005464_abnormal_platelet_physiology | 0.61075802 |
| 92 | MP0008469_abnormal_protein_level | 0.59709018 |
| 93 | MP0008932_abnormal_embryonic_tissue | 0.59618826 |
| 94 | MP0008004_abnormal_stomach_pH | 0.55170373 |
| 95 | MP0004947_skin_inflammation | 0.54416104 |
| 96 | MP0005621_abnormal_cell_physiology | 0.53597529 |
| 97 | MP0002006_tumorigenesis | 0.53217152 |
| 98 | MP0005501_abnormal_skin_physiology | 0.52864855 |
| 99 | MP0001666_abnormal_nutrient_absorption | 0.51361992 |
| 100 | MP0002166_altered_tumor_susceptibility | 0.50411447 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Agammaglobulinemia (HP:0004432) | 8.20618261 |
| 2 | Gastrointestinal stroma tumor (HP:0100723) | 5.48879315 |
| 3 | Cellulitis (HP:0100658) | 5.41770089 |
| 4 | Osteomyelitis (HP:0002754) | 4.76754979 |
| 5 | Recurrent bronchitis (HP:0002837) | 4.75400277 |
| 6 | Meningitis (HP:0001287) | 4.60508460 |
| 7 | Recurrent pneumonia (HP:0006532) | 4.59738110 |
| 8 | Verrucae (HP:0200043) | 4.18444787 |
| 9 | Papilloma (HP:0012740) | 4.18444787 |
| 10 | Primitive reflexes (palmomental, snout, glabellar) (HP:0002476) | 4.08585417 |
| 11 | Recurrent sinusitis (HP:0011108) | 4.06521230 |
| 12 | Chronic sinusitis (HP:0011109) | 3.96702751 |
| 13 | Recurrent lower respiratory tract infections (HP:0002783) | 3.83908527 |
| 14 | Eczematoid dermatitis (HP:0000976) | 3.79337005 |
| 15 | Impulsivity (HP:0100710) | 3.76280018 |
| 16 | Abnormality of macrophages (HP:0004311) | 3.67381035 |
| 17 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 3.49052075 |
| 18 | Chromsome breakage (HP:0040012) | 3.42560632 |
| 19 | Recurrent bacterial skin infections (HP:0005406) | 3.39123434 |
| 20 | Lymphopenia (HP:0001888) | 3.39042290 |
| 21 | Aplasia/Hypoplasia of the fovea (HP:0008060) | 3.34862748 |
| 22 | Hypoplasia of the fovea (HP:0007750) | 3.34862748 |
| 23 | Facial hemangioma (HP:0000329) | 3.33031077 |
| 24 | Hypergonadotropic hypogonadism (HP:0000815) | 3.30683727 |
| 25 | Mediastinal lymphadenopathy (HP:0100721) | 3.25453583 |
| 26 | Pulmonary fibrosis (HP:0002206) | 3.20221477 |
| 27 | Panhypogammaglobulinemia (HP:0003139) | 3.18632311 |
| 28 | Osteomalacia (HP:0002749) | 3.16052338 |
| 29 | Gastrointestinal inflammation (HP:0004386) | 3.12642134 |
| 30 | Inflammation of the large intestine (HP:0002037) | 3.12297049 |
| 31 | Recurrent gram-negative bacterial infections (HP:0005420) | 3.04159913 |
| 32 | Abnormality of cells of the lymphoid lineage (HP:0012140) | 3.04149824 |
| 33 | Sepsis (HP:0100806) | 2.98847830 |
| 34 | Lip pit (HP:0100267) | 2.95016913 |
| 35 | Recurrent viral infections (HP:0004429) | 2.93946539 |
| 36 | Colitis (HP:0002583) | 2.92882259 |
| 37 | Vasculitis (HP:0002633) | 2.91343587 |
| 38 | Emphysema (HP:0002097) | 2.89375440 |
| 39 | B lymphocytopenia (HP:0010976) | 2.86483171 |
| 40 | Abnormality of the fovea (HP:0000493) | 2.85078467 |
| 41 | Abdominal situs inversus (HP:0003363) | 2.84634814 |
| 42 | Abnormality of abdominal situs (HP:0011620) | 2.84634814 |
| 43 | Recurrent abscess formation (HP:0002722) | 2.81706593 |
| 44 | Recurrent fungal infections (HP:0002841) | 2.81387932 |
| 45 | Bronchitis (HP:0012387) | 2.76994810 |
| 46 | IgG deficiency (HP:0004315) | 2.76949952 |
| 47 | Skin rash (HP:0000988) | 2.74677878 |
| 48 | IgA deficiency (HP:0002720) | 2.73167479 |
| 49 | Recurrent otitis media (HP:0000403) | 2.68897050 |
| 50 | Cholecystitis (HP:0001082) | 2.67692906 |
| 51 | Abnormal gallbladder physiology (HP:0012438) | 2.67692906 |
| 52 | Chronic obstructive pulmonary disease (HP:0006510) | 2.63861413 |
| 53 | Obstructive lung disease (HP:0006536) | 2.63861413 |
| 54 | Supernumerary spleens (HP:0009799) | 2.59630391 |
| 55 | Abnormality of B cell number (HP:0010975) | 2.58013851 |
| 56 | Anterior segment dysgenesis (HP:0007700) | 2.54906479 |
| 57 | Diminished motivation (HP:0000745) | 2.54580284 |
| 58 | Premature ovarian failure (HP:0008209) | 2.52613075 |
| 59 | Abnormality of the prostate (HP:0008775) | 2.50332027 |
| 60 | Apathy (HP:0000741) | 2.48321123 |
| 61 | Restrictive lung disease (HP:0002091) | 2.44001030 |
| 62 | Abnormal delayed hypersensitivity skin test (HP:0002963) | 2.43572637 |
| 63 | Malnutrition (HP:0004395) | 2.40964627 |
| 64 | Truncal obesity (HP:0001956) | 2.40586132 |
| 65 | Leukopenia (HP:0001882) | 2.39035979 |
| 66 | Obstructive sleep apnea (HP:0002870) | 2.32241208 |
| 67 | Hypercortisolism (HP:0001578) | 2.30173146 |
| 68 | Infertility (HP:0000789) | 2.29262151 |
| 69 | Male infertility (HP:0003251) | 2.17144929 |
| 70 | Lower limb hyperreflexia (HP:0002395) | 2.16752750 |
| 71 | Encephalitis (HP:0002383) | 2.15018263 |
| 72 | * Lymphoma (HP:0002665) | 2.08022794 |
| 73 | IgM deficiency (HP:0002850) | 2.07078256 |
| 74 | Capillary hemangiomas (HP:0005306) | 2.06828697 |
| 75 | Aplasia/Hypoplasia of the macula (HP:0008059) | 2.03016308 |
| 76 | Limb hypertonia (HP:0002509) | 2.01674954 |
| 77 | Dehydration (HP:0001944) | 2.00155780 |
| 78 | Oligodactyly (hands) (HP:0001180) | 1.99247855 |
| 79 | Hypophosphatemic rickets (HP:0004912) | 1.98691526 |
| 80 | Prostate neoplasm (HP:0100787) | 1.97690807 |
| 81 | Recurrent skin infections (HP:0001581) | 1.95952824 |
| 82 | Azoospermia (HP:0000027) | 1.93992804 |
| 83 | Viral hepatitis (HP:0006562) | 1.92911057 |
| 84 | Increased IgM level (HP:0003496) | 1.90465766 |
| 85 | Combined immunodeficiency (HP:0005387) | 1.84751991 |
| 86 | Aplasia/Hypoplasia affecting the retina (HP:0008061) | 1.82814951 |
| 87 | Abnormality of the preputium (HP:0100587) | 1.81861005 |
| 88 | Abnormality of male internal genitalia (HP:0000022) | 1.80921530 |
| 89 | Gonadotropin excess (HP:0000837) | 1.80180038 |
| 90 | Chronic mucocutaneous candidiasis (HP:0002728) | 1.79940289 |
| 91 | Recurrent cutaneous fungal infections (HP:0011370) | 1.79940289 |
| 92 | Papillary thyroid carcinoma (HP:0002895) | 1.79869331 |
| 93 | Urticaria (HP:0001025) | 1.79333618 |
| 94 | Abnormality of chromosome stability (HP:0003220) | 1.78202618 |
| 95 | Carpal bone hypoplasia (HP:0001498) | 1.77200905 |
| 96 | Hypokinesia (HP:0002375) | 1.75742428 |
| 97 | Abnormal spermatogenesis (HP:0008669) | 1.74746133 |
| 98 | Abnormality of DNA repair (HP:0003254) | 1.72095827 |
| 99 | Increased IgE level (HP:0003212) | 1.71704978 |
| 100 | Secondary amenorrhea (HP:0000869) | 1.71004063 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MAP3K13 | 4.44138647 |
| 2 | ARAF | 3.83662813 |
| 3 | CDK12 | 3.54498818 |
| 4 | MAP3K9 | 3.38711785 |
| 5 | MAP3K10 | 3.20523921 |
| 6 | MAP4K1 | 3.12178371 |
| 7 | TESK2 | 2.72294330 |
| 8 | ERN1 | 2.59292598 |
| 9 | IRAK4 | 2.32094507 |
| 10 | RIPK4 | 2.17532763 |
| 11 | BRAF | 2.02984822 |
| 12 | STK24 | 1.96908552 |
| 13 | BLK | 1.96098894 |
| 14 | TAOK3 | 1.94211806 |
| 15 | SYK | 1.77270672 |
| 16 | TTK | 1.67803003 |
| 17 | TNK2 | 1.65363127 |
| 18 | AURKA | 1.58831246 |
| 19 | CDK9 | 1.58026917 |
| 20 | CDC7 | 1.54854776 |
| 21 | MST4 | 1.49874895 |
| 22 | NEK6 | 1.45518119 |
| 23 | PRPF4B | 1.41909575 |
| 24 | BMPR2 | 1.34712418 |
| 25 | MAPK11 | 1.32443709 |
| 26 | CDK19 | 1.31712839 |
| 27 | BTK | 1.29886094 |
| 28 | KSR2 | 1.27894067 |
| 29 | MELK | 1.27183975 |
| 30 | TLK1 | 1.25870350 |
| 31 | TYK2 | 1.24372447 |
| 32 | RAF1 | 1.23218617 |
| 33 | LYN | 1.21765956 |
| 34 | CDK7 | 1.19396622 |
| 35 | CSF1R | 1.16156442 |
| 36 | GRK6 | 1.15915952 |
| 37 | PIM1 | 1.15504638 |
| 38 | MAP3K8 | 1.12442669 |
| 39 | PRKCI | 1.11810253 |
| 40 | PKN1 | 1.08767993 |
| 41 | ZAK | 1.05882348 |
| 42 | NTRK2 | 1.03921901 |
| 43 | MARK3 | 1.02852991 |
| 44 | EEF2K | 1.02795900 |
| 45 | KIT | 0.97334909 |
| 46 | CDK4 | 0.95942028 |
| 47 | ACVR1B | 0.95089549 |
| 48 | CDK8 | 0.89857565 |
| 49 | EIF2AK3 | 0.88924934 |
| 50 | MAP3K14 | 0.87217727 |
| 51 | IKBKB | 0.84592163 |
| 52 | MOS | 0.84202988 |
| 53 | CHEK1 | 0.83814848 |
| 54 | MAPK12 | 0.81025455 |
| 55 | TAOK2 | 0.78730513 |
| 56 | PRKCQ | 0.77769180 |
| 57 | ZAP70 | 0.74728122 |
| 58 | BRSK1 | 0.73144277 |
| 59 | FES | 0.71306686 |
| 60 | PLK1 | 0.71282369 |
| 61 | IKBKE | 0.69879094 |
| 62 | ATR | 0.68445429 |
| 63 | STK10 | 0.65753872 |
| 64 | LCK | 0.65116706 |
| 65 | VRK1 | 0.64478007 |
| 66 | PASK | 0.63835764 |
| 67 | MAP2K3 | 0.62502369 |
| 68 | CDC42BPA | 0.61299138 |
| 69 | KDR | 0.61097162 |
| 70 | CDK2 | 0.60837960 |
| 71 | NEK9 | 0.59248411 |
| 72 | MARK2 | 0.54462656 |
| 73 | JAK3 | 0.54031438 |
| 74 | LRRK2 | 0.53707744 |
| 75 | STK3 | 0.53486042 |
| 76 | MAPK13 | 0.52577924 |
| 77 | BRD4 | 0.52332210 |
| 78 | TEC | 0.52157197 |
| 79 | PRKD2 | 0.51631350 |
| 80 | AURKB | 0.50576505 |
| 81 | TAOK1 | 0.49722289 |
| 82 | CSK | 0.48835414 |
| 83 | CHEK2 | 0.48518513 |
| 84 | HCK | 0.48448123 |
| 85 | NEK2 | 0.48177697 |
| 86 | ATM | 0.47255915 |
| 87 | PRKCZ | 0.46485018 |
| 88 | CLK1 | 0.45196458 |
| 89 | PDK1 | 0.44817822 |
| 90 | TBK1 | 0.43387691 |
| 91 | WNK1 | 0.43117810 |
| 92 | PAK1 | 0.42242513 |
| 93 | BUB1 | 0.41353455 |
| 94 | MAP3K1 | 0.41309290 |
| 95 | PRKD1 | 0.39068012 |
| 96 | MAP3K5 | 0.35652433 |
| 97 | CSNK1D | 0.35187535 |
| 98 | MET | 0.34459106 |
| 99 | FYN | 0.33791966 |
| 100 | CHUK | 0.33149696 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Primary immunodeficiency_Homo sapiens_hsa05340 | 4.05514316 |
| 2 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 3.80833709 |
| 3 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 3.32875776 |
| 4 | Allograft rejection_Homo sapiens_hsa05330 | 3.28060710 |
| 5 | Asthma_Homo sapiens_hsa05310 | 3.16355715 |
| 6 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 3.12685192 |
| 7 | Graft-versus-host disease_Homo sapiens_hsa05332 | 2.88292960 |
| 8 | Mismatch repair_Homo sapiens_hsa03430 | 2.63583012 |
| 9 | Base excision repair_Homo sapiens_hsa03410 | 2.47910694 |
| 10 | DNA replication_Homo sapiens_hsa03030 | 2.42736438 |
| 11 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 2.39534675 |
| 12 | Cell cycle_Homo sapiens_hsa04110 | 2.36678619 |
| 13 | Basal transcription factors_Homo sapiens_hsa03022 | 2.08008754 |
| 14 | Leishmaniasis_Homo sapiens_hsa05140 | 1.98614373 |
| 15 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.97037714 |
| 16 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 1.82589438 |
| 17 | Homologous recombination_Homo sapiens_hsa03440 | 1.80165430 |
| 18 | Herpes simplex infection_Homo sapiens_hsa05168 | 1.78021943 |
| 19 | Viral myocarditis_Homo sapiens_hsa05416 | 1.75648674 |
| 20 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 1.71034879 |
| 21 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 1.60721816 |
| 22 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 1.54103146 |
| 23 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 1.49950891 |
| 24 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 1.44467568 |
| 25 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.38720513 |
| 26 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.38166760 |
| 27 | Osteoclast differentiation_Homo sapiens_hsa04380 | 1.35315182 |
| 28 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.34413250 |
| 29 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.30558300 |
| 30 | Influenza A_Homo sapiens_hsa05164 | 1.26606675 |
| 31 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.26369553 |
| 32 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 1.26013151 |
| 33 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.25963684 |
| 34 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 1.23187713 |
| 35 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 1.19928207 |
| 36 | RNA degradation_Homo sapiens_hsa03018 | 1.19889593 |
| 37 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 1.13748871 |
| 38 | HTLV-I infection_Homo sapiens_hsa05166 | 1.12058274 |
| 39 | Toxoplasmosis_Homo sapiens_hsa05145 | 1.12055270 |
| 40 | Viral carcinogenesis_Homo sapiens_hsa05203 | 1.08701244 |
| 41 | Tuberculosis_Homo sapiens_hsa05152 | 1.08615777 |
| 42 | T cell receptor signaling pathway_Homo sapiens_hsa04660 | 1.06372025 |
| 43 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.05778640 |
| 44 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 1.04277093 |
| 45 | p53 signaling pathway_Homo sapiens_hsa04115 | 1.02383556 |
| 46 | Fc epsilon RI signaling pathway_Homo sapiens_hsa04664 | 1.01493605 |
| 47 | Toll-like receptor signaling pathway_Homo sapiens_hsa04620 | 0.97702192 |
| 48 | Phagosome_Homo sapiens_hsa04145 | 0.94203239 |
| 49 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.91481044 |
| 50 | Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650 | 0.90947956 |
| 51 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.85744905 |
| 52 | RNA transport_Homo sapiens_hsa03013 | 0.84777221 |
| 53 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.84228931 |
| 54 | Measles_Homo sapiens_hsa05162 | 0.78345605 |
| 55 | Hepatitis B_Homo sapiens_hsa05161 | 0.77175923 |
| 56 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.77065766 |
| 57 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.73839117 |
| 58 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.72815589 |
| 59 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 0.71504001 |
| 60 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.68626851 |
| 61 | Chemokine signaling pathway_Homo sapiens_hsa04062 | 0.68472061 |
| 62 | Shigellosis_Homo sapiens_hsa05131 | 0.57564665 |
| 63 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.57550396 |
| 64 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.56373466 |
| 65 | RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622 | 0.55567040 |
| 66 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.55419407 |
| 67 | FoxO signaling pathway_Homo sapiens_hsa04068 | 0.53806542 |
| 68 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.53153955 |
| 69 | Alcoholism_Homo sapiens_hsa05034 | 0.49965549 |
| 70 | Thyroid cancer_Homo sapiens_hsa05216 | 0.48488065 |
| 71 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.47689401 |
| 72 | ABC transporters_Homo sapiens_hsa02010 | 0.47265281 |
| 73 | Olfactory transduction_Homo sapiens_hsa04740 | 0.45856156 |
| 74 | Apoptosis_Homo sapiens_hsa04210 | 0.43651541 |
| 75 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.43640636 |
| 76 | Gap junction_Homo sapiens_hsa04540 | 0.41433944 |
| 77 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.40107208 |
| 78 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.37587961 |
| 79 | RNA polymerase_Homo sapiens_hsa03020 | 0.37385543 |
| 80 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.36586781 |
| 81 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.36272712 |
| 82 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 0.35825963 |
| 83 | Renal cell carcinoma_Homo sapiens_hsa05211 | 0.33968802 |
| 84 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.32623619 |
| 85 | Prostate cancer_Homo sapiens_hsa05215 | 0.32567436 |
| 86 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.29789424 |
| 87 | Small cell lung cancer_Homo sapiens_hsa05222 | 0.28170210 |
| 88 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 0.27785447 |
| 89 | TNF signaling pathway_Homo sapiens_hsa04668 | 0.27708500 |
| 90 | Lysine degradation_Homo sapiens_hsa00310 | 0.26193716 |
| 91 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.25106609 |
| 92 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.24171935 |
| 93 | African trypanosomiasis_Homo sapiens_hsa05143 | 0.22994620 |
| 94 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.22771841 |
| 95 | Phototransduction_Homo sapiens_hsa04744 | 0.22687067 |
| 96 | Malaria_Homo sapiens_hsa05144 | 0.22255188 |
| 97 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.21215059 |
| 98 | Chagas disease (American trypanosomiasis)_Homo sapiens_hsa05142 | 0.20034714 |
| 99 | Endocytosis_Homo sapiens_hsa04144 | 0.19987771 |
| 100 | Colorectal cancer_Homo sapiens_hsa05210 | 0.19471714 |

