

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm motility (GO:0030317) | 8.55674282 |
| 2 | acrosome reaction (GO:0007340) | 8.04128881 |
| 3 | fusion of sperm to egg plasma membrane (GO:0007342) | 7.32087242 |
| 4 | rRNA methylation (GO:0031167) | 7.03576265 |
| 5 | chromosome condensation (GO:0030261) | 6.99768122 |
| 6 | DNA packaging (GO:0006323) | 6.90636989 |
| 7 | piRNA metabolic process (GO:0034587) | 6.86923557 |
| 8 | protein targeting to Golgi (GO:0000042) | 6.51124865 |
| 9 | establishment of protein localization to Golgi (GO:0072600) | 6.19422087 |
| 10 | spermatid development (GO:0007286) | 6.14136543 |
| 11 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 6.05505520 |
| 12 | sperm capacitation (GO:0048240) | 6.00755398 |
| 13 | rRNA modification (GO:0000154) | 5.79431868 |
| 14 | protein polyglutamylation (GO:0018095) | 5.70562183 |
| 15 | DNA methylation involved in gamete generation (GO:0043046) | 5.42981688 |
| 16 | sperm-egg recognition (GO:0035036) | 5.41249630 |
| 17 | plasma membrane fusion (GO:0045026) | 5.33571958 |
| 18 | microtubule depolymerization (GO:0007019) | 5.29663444 |
| 19 | single strand break repair (GO:0000012) | 5.27672124 |
| 20 | centriole replication (GO:0007099) | 5.22902861 |
| 21 | seminiferous tubule development (GO:0072520) | 5.13891473 |
| 22 | spermatogenesis (GO:0007283) | 5.11727744 |
| 23 | spermatid nucleus differentiation (GO:0007289) | 5.11564945 |
| 24 | male gamete generation (GO:0048232) | 5.11056604 |
| 25 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.02780463 |
| 26 | microtubule severing (GO:0051013) | 4.96718245 |
| 27 | centriole assembly (GO:0098534) | 4.94067992 |
| 28 | binding of sperm to zona pellucida (GO:0007339) | 4.88782364 |
| 29 | protein localization to Golgi apparatus (GO:0034067) | 4.75466108 |
| 30 | multicellular organism reproduction (GO:0032504) | 4.74174716 |
| 31 | gamete generation (GO:0007276) | 4.73770978 |
| 32 | phosphatidylethanolamine metabolic process (GO:0046337) | 4.65153371 |
| 33 | male meiosis I (GO:0007141) | 4.61500909 |
| 34 | cell-cell recognition (GO:0009988) | 4.58222769 |
| 35 | microtubule polymerization or depolymerization (GO:0031109) | 4.54675318 |
| 36 | reproduction (GO:0000003) | 4.47789145 |
| 37 | cell wall macromolecule catabolic process (GO:0016998) | 4.42912191 |
| 38 | sexual reproduction (GO:0019953) | 4.40703477 |
| 39 | response to pheromone (GO:0019236) | 4.23976084 |
| 40 | calcium ion-dependent exocytosis (GO:0017156) | 4.13533881 |
| 41 | negative regulation of inclusion body assembly (GO:0090084) | 4.06856391 |
| 42 | cell wall macromolecule metabolic process (GO:0044036) | 4.01438613 |
| 43 | male meiosis (GO:0007140) | 3.97637443 |
| 44 | RNA destabilization (GO:0050779) | 3.95816364 |
| 45 | histone H3-K9 demethylation (GO:0033169) | 3.93274674 |
| 46 | microtubule nucleation (GO:0007020) | 3.91925665 |
| 47 | single fertilization (GO:0007338) | 3.83170668 |
| 48 | fertilization (GO:0009566) | 3.82911151 |
| 49 | germ cell development (GO:0007281) | 3.82387977 |
| 50 | multicellular organismal reproductive process (GO:0048609) | 3.81065083 |
| 51 | regulation of meiosis I (GO:0060631) | 3.77135861 |
| 52 | nuclear pore complex assembly (GO:0051292) | 3.73811741 |
| 53 | nucleus organization (GO:0006997) | 3.72958000 |
| 54 | positive regulation of Rab GTPase activity (GO:0032851) | 3.63069074 |
| 55 | regulation of Rab GTPase activity (GO:0032313) | 3.63069074 |
| 56 | meiosis I (GO:0007127) | 3.54068620 |
| 57 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.54020093 |
| 58 | synapsis (GO:0007129) | 3.53719970 |
| 59 | chromosome organization involved in meiosis (GO:0070192) | 3.51475998 |
| 60 | cilium or flagellum-dependent cell motility (GO:0001539) | 3.50861852 |
| 61 | regulation of cilium movement (GO:0003352) | 3.45714238 |
| 62 | axonemal dynein complex assembly (GO:0070286) | 3.45235499 |
| 63 | motile cilium assembly (GO:0044458) | 3.36932070 |
| 64 | pore complex assembly (GO:0046931) | 3.36813472 |
| 65 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 3.36177608 |
| 66 | synaptonemal complex assembly (GO:0007130) | 3.34396566 |
| 67 | meiotic nuclear division (GO:0007126) | 3.32787525 |
| 68 | regulation of T-helper 2 cell differentiation (GO:0045628) | 3.32511156 |
| 69 | nuclear pore organization (GO:0006999) | 3.20282148 |
| 70 | regulation of microtubule-based movement (GO:0060632) | 3.09095377 |
| 71 | regulation of centriole replication (GO:0046599) | 3.05443581 |
| 72 | regulation of histone H3-K9 methylation (GO:0051570) | 3.05052211 |
| 73 | macrophage activation involved in immune response (GO:0002281) | 3.04263212 |
| 74 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.03868433 |
| 75 | positive regulation of type 2 immune response (GO:0002830) | 3.03331712 |
| 76 | neutrophil activation involved in immune response (GO:0002283) | 3.03079578 |
| 77 | intra-Golgi vesicle-mediated transport (GO:0006891) | 3.01410790 |
| 78 | negative regulation of granulocyte differentiation (GO:0030853) | 2.87461561 |
| 79 | positive regulation of gamma-delta T cell activation (GO:0046645) | 2.86704546 |
| 80 | negative regulation of Rho protein signal transduction (GO:0035024) | 2.85465046 |
| 81 | positive regulation by organism of defense response of other organism involved in symbiotic interact | 2.84928405 |
| 82 | modulation by symbiont of host immune response (GO:0052553) | 2.84928405 |
| 83 | positive regulation by symbiont of host defense response (GO:0052509) | 2.84928405 |
| 84 | modulation by symbiont of host defense response (GO:0052031) | 2.84928405 |
| 85 | modulation by organism of immune response of other organism involved in symbiotic interaction (GO:00 | 2.84928405 |
| 86 | modulation by organism of defense response of other organism involved in symbiotic interaction (GO:0 | 2.84928405 |
| 87 | resolution of meiotic recombination intermediates (GO:0000712) | 2.84265964 |
| 88 | cellular ketone body metabolic process (GO:0046950) | 2.80315230 |
| 89 | regulation of B cell receptor signaling pathway (GO:0050855) | 2.79180931 |
| 90 | homeostasis of number of cells within a tissue (GO:0048873) | 2.79102156 |
| 91 | histone H3-K36 demethylation (GO:0070544) | 2.78735879 |
| 92 | epithelial cilium movement (GO:0003351) | 2.77920475 |
| 93 | synaptonemal complex organization (GO:0070193) | 2.76812739 |
| 94 | meiotic cell cycle process (GO:1903046) | 2.74868716 |
| 95 | polyamine biosynthetic process (GO:0006596) | 2.73953250 |
| 96 | myeloid cell activation involved in immune response (GO:0002275) | 2.72495497 |
| 97 | definitive hemopoiesis (GO:0060216) | 2.72316307 |
| 98 | response to peptidoglycan (GO:0032494) | 2.62711825 |
| 99 | positive regulation of antigen receptor-mediated signaling pathway (GO:0050857) | 2.60758020 |
| 100 | meiotic cell cycle (GO:0051321) | 2.60631706 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 5.22521301 |
| 2 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 4.00935036 |
| 3 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 3.81691798 |
| 4 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 3.36997033 |
| 5 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.64813042 |
| 6 | IRF8_21731497_ChIP-ChIP_J774_Mouse | 2.29482748 |
| 7 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.23021650 |
| 8 | RUNX_20019798_ChIP-Seq_JUKART_Human | 2.19187235 |
| 9 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 2.14025596 |
| 10 | MYB_26560356_Chip-Seq_TH2_Human | 2.03813475 |
| 11 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.98848755 |
| 12 | * MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.92283896 |
| 13 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.86721357 |
| 14 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.79003910 |
| 15 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.69555896 |
| 16 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.68814168 |
| 17 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.68814168 |
| 18 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.68642229 |
| 19 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.66507180 |
| 20 | SCL_19346495_ChIP-Seq_HPC-7_Human | 1.66030387 |
| 21 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.62934112 |
| 22 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.60048019 |
| 23 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.59589479 |
| 24 | IRF1_21803131_ChIP-Seq_MONOCYTES_Human | 1.57474182 |
| 25 | VDR_24787735_ChIP-Seq_THP-1_Human | 1.57043698 |
| 26 | IRF8_27001747_Chip-Seq_BMDM_Mouse | 1.56664221 |
| 27 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.56413393 |
| 28 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.56413393 |
| 29 | IRF8_22096565_ChIP-ChIP_GC-B_Mouse | 1.55130978 |
| 30 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.53503432 |
| 31 | MECOM_23826213_ChIP-Seq_KASUMI_Mouse | 1.53417586 |
| 32 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 1.52854542 |
| 33 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.51447335 |
| 34 | FUS_26573619_Chip-Seq_HEK293_Human | 1.50879092 |
| 35 | P300_27268052_Chip-Seq_Bcells_Human | 1.50633864 |
| 36 | SPI1_22096565_ChIP-ChIP_GC-B_Mouse | 1.47900789 |
| 37 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.44747541 |
| 38 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.43748060 |
| 39 | E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human | 1.43204127 |
| 40 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.42887281 |
| 41 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.42024228 |
| 42 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.41982511 |
| 43 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.40446065 |
| 44 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.40186625 |
| 45 | ERA_21632823_ChIP-Seq_H3396_Human | 1.39958087 |
| 46 | GATA3_27048872_Chip-Seq_THYMUS_Human | 1.37893598 |
| 47 | MYB_26560356_Chip-Seq_TH1_Human | 1.37668544 |
| 48 | GATA3_26560356_Chip-Seq_TH2_Human | 1.37369908 |
| 49 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.37248578 |
| 50 | SPI1_23127762_ChIP-Seq_K562_Human | 1.37154515 |
| 51 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.36522681 |
| 52 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.35263603 |
| 53 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.33873689 |
| 54 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.27519558 |
| 55 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.27314960 |
| 56 | GATA3_26560356_Chip-Seq_TH1_Human | 1.26310879 |
| 57 | * SPI1_23547873_ChIP-Seq_NB4_Human | 1.20545019 |
| 58 | P68_20966046_ChIP-Seq_HELA_Human | 1.19666497 |
| 59 | * CEBPB_22108803_ChIP-Seq_LS180_Human | 1.19057589 |
| 60 | * TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.17425561 |
| 61 | VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human | 1.17299758 |
| 62 | MAF_26560356_Chip-Seq_TH2_Human | 1.16864721 |
| 63 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.16814778 |
| 64 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.16201527 |
| 65 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.15636315 |
| 66 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.15146723 |
| 67 | FOXP3_17237761_ChIP-ChIP_TREG_Mouse | 1.14410866 |
| 68 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.13422543 |
| 69 | VDR_24763502_ChIP-Seq_THP-1_Human | 1.12978893 |
| 70 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.11344672 |
| 71 | SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse | 1.11032940 |
| 72 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.09655338 |
| 73 | NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human | 1.08895658 |
| 74 | STAT6_20620947_ChIP-Seq_CD4_POS_T_Human | 1.06747188 |
| 75 | GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.06602442 |
| 76 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.06464799 |
| 77 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.06263826 |
| 78 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.06212844 |
| 79 | UTX_26944678_Chip-Seq_JUKART_Human | 1.05658401 |
| 80 | LYL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.05630191 |
| 81 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.05140117 |
| 82 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.04608948 |
| 83 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.03310233 |
| 84 | LMO2_20887958_ChIP-Seq_HPC-7_Mouse | 1.03263293 |
| 85 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.02431673 |
| 86 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.01980883 |
| 87 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.01778774 |
| 88 | NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse | 1.00946159 |
| 89 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.00873409 |
| 90 | IKZF1_21737484_ChIP-ChIP_HCT116_Human | 1.00278382 |
| 91 | SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 1.00206944 |
| 92 | EZH2_22144423_ChIP-Seq_EOC_Human | 0.98718575 |
| 93 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 0.98682345 |
| 94 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 0.98301824 |
| 95 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 0.97685332 |
| 96 | PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse | 0.97607589 |
| 97 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 0.97437176 |
| 98 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 0.97143650 |
| 99 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.96758119 |
| 100 | ASXL1_24218140_ChIP-Seq_BMDM_Mouse | 0.96636174 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 8.16526043 |
| 2 | MP0003698_abnormal_male_reproductive | 3.46127288 |
| 3 | MP0001929_abnormal_gametogenesis | 3.41443263 |
| 4 | MP0005451_abnormal_body_composition | 3.37580680 |
| 5 | MP0003878_abnormal_ear_physiology | 3.19855361 |
| 6 | MP0005377_hearing/vestibular/ear_phenot | 3.19855361 |
| 7 | MP0005670_abnormal_white_adipose | 2.98884359 |
| 8 | MP0001835_abnormal_antigen_presentation | 2.69655879 |
| 9 | MP0005671_abnormal_response_to | 2.32236856 |
| 10 | MP0005310_abnormal_salivary_gland | 2.27877292 |
| 11 | MP0001800_abnormal_humoral_immune | 2.20145063 |
| 12 | MP0003436_decreased_susceptibility_to | 2.18645230 |
| 13 | MP0002132_abnormal_respiratory_system | 2.16928761 |
| 14 | MP0002210_abnormal_sex_determination | 2.16764617 |
| 15 | MP0008877_abnormal_DNA_methylation | 2.11091936 |
| 16 | MP0003303_peritoneal_inflammation | 2.07828226 |
| 17 | MP0000685_abnormal_immune_system | 2.04460796 |
| 18 | MP0005379_endocrine/exocrine_gland_phen | 2.03487656 |
| 19 | MP0002723_abnormal_immune_serum | 1.92178754 |
| 20 | MP0005000_abnormal_immune_tolerance | 1.89913720 |
| 21 | MP0002161_abnormal_fertility/fecundity | 1.88908824 |
| 22 | MP0000678_abnormal_parathyroid_gland | 1.84627307 |
| 23 | MP0009785_altered_susceptibility_to | 1.80234183 |
| 24 | MP0005387_immune_system_phenotype | 1.79440371 |
| 25 | MP0001790_abnormal_immune_system | 1.79440371 |
| 26 | MP0002452_abnormal_antigen_presenting | 1.77414028 |
| 27 | MP0002148_abnormal_hypersensitivity_rea | 1.77005188 |
| 28 | MP0001145_abnormal_male_reproductive | 1.74916010 |
| 29 | MP0005397_hematopoietic_system_phenotyp | 1.73423977 |
| 30 | MP0001545_abnormal_hematopoietic_system | 1.73423977 |
| 31 | MP0000653_abnormal_sex_gland | 1.60826632 |
| 32 | MP0003646_muscle_fatigue | 1.60327516 |
| 33 | MP0002420_abnormal_adaptive_immunity | 1.56276831 |
| 34 | MP0005084_abnormal_gallbladder_morpholo | 1.55916893 |
| 35 | MP0002398_abnormal_bone_marrow | 1.55218812 |
| 36 | MP0001819_abnormal_immune_cell | 1.54541284 |
| 37 | MP0002419_abnormal_innate_immunity | 1.53894453 |
| 38 | MP0005025_abnormal_response_to | 1.52779267 |
| 39 | MP0003718_maternal_effect | 1.51773164 |
| 40 | MP0003172_abnormal_lysosome_physiology | 1.46717114 |
| 41 | MP0005464_abnormal_platelet_physiology | 1.44705173 |
| 42 | MP0002138_abnormal_hepatobiliary_system | 1.37234108 |
| 43 | MP0000716_abnormal_immune_system | 1.33039436 |
| 44 | MP0006082_CNS_inflammation | 1.32596914 |
| 45 | MP0009764_decreased_sensitivity_to | 1.27950035 |
| 46 | MP0000015_abnormal_ear_pigmentation | 1.27718146 |
| 47 | MP0001348_abnormal_lacrimal_gland | 1.27544963 |
| 48 | MP0003763_abnormal_thymus_physiology | 1.26478760 |
| 49 | MP0009278_abnormal_bone_marrow | 1.25656001 |
| 50 | MP0002405_respiratory_system_inflammati | 1.25580820 |
| 51 | MP0002163_abnormal_gland_morphology | 1.22946585 |
| 52 | MP0002722_abnormal_immune_system | 1.22649520 |
| 53 | MP0000689_abnormal_spleen_morphology | 1.20042293 |
| 54 | MP0000703_abnormal_thymus_morphology | 1.16980108 |
| 55 | MP0004947_skin_inflammation | 1.08844780 |
| 56 | MP0002429_abnormal_blood_cell | 1.07966026 |
| 57 | MP0004808_abnormal_hematopoietic_stem | 1.06865467 |
| 58 | MP0003724_increased_susceptibility_to | 1.06620984 |
| 59 | MP0001853_heart_inflammation | 1.05802044 |
| 60 | MP0010307_abnormal_tumor_latency | 1.03032508 |
| 61 | MP0000681_abnormal_thyroid_gland | 1.02852119 |
| 62 | MP0009333_abnormal_splenocyte_physiolog | 0.99688909 |
| 63 | MP0008469_abnormal_protein_level | 0.98293070 |
| 64 | MP0004510_myositis | 0.96894549 |
| 65 | MP0009115_abnormal_fat_cell | 0.95529766 |
| 66 | MP0001845_abnormal_inflammatory_respons | 0.92137563 |
| 67 | MP0008004_abnormal_stomach_pH | 0.91928598 |
| 68 | MP0001533_abnormal_skeleton_physiology | 0.90119042 |
| 69 | MP0005058_abnormal_lysosome_morphology | 0.88237427 |
| 70 | MP0005174_abnormal_tail_pigmentation | 0.87398302 |
| 71 | MP0001873_stomach_inflammation | 0.84273952 |
| 72 | MP0003879_abnormal_hair_cell | 0.80564845 |
| 73 | MP0009765_abnormal_xenobiotic_induced | 0.77307772 |
| 74 | MP0008995_early_reproductive_senescence | 0.76112802 |
| 75 | MP0005666_abnormal_adipose_tissue | 0.73853830 |
| 76 | MP0001765_abnormal_ion_homeostasis | 0.71698641 |
| 77 | MP0010155_abnormal_intestine_physiology | 0.71000577 |
| 78 | MP0001188_hyperpigmentation | 0.69169663 |
| 79 | MP0002998_abnormal_bone_remodeling | 0.67811715 |
| 80 | MP0003693_abnormal_embryo_hatching | 0.65563754 |
| 81 | MP0005535_abnormal_body_temperature | 0.64861307 |
| 82 | MP0008058_abnormal_DNA_repair | 0.64682872 |
| 83 | MP0002166_altered_tumor_susceptibility | 0.64473060 |
| 84 | MP0003077_abnormal_cell_cycle | 0.63781690 |
| 85 | MP0005075_abnormal_melanosome_morpholog | 0.63701663 |
| 86 | MP0003656_abnormal_erythrocyte_physiolo | 0.63378507 |
| 87 | MP0005167_abnormal_blood-brain_barrier | 0.63318663 |
| 88 | MP0000313_abnormal_cell_death | 0.61313921 |
| 89 | MP0004957_abnormal_blastocyst_morpholog | 0.61299745 |
| 90 | MP0003011_delayed_dark_adaptation | 0.58581541 |
| 91 | MP0003959_abnormal_lean_body | 0.58118325 |
| 92 | MP0004742_abnormal_vestibular_system | 0.55918949 |
| 93 | MP0002019_abnormal_tumor_incidence | 0.54545811 |
| 94 | MP0003699_abnormal_female_reproductive | 0.54210950 |
| 95 | MP0001764_abnormal_homeostasis | 0.54064458 |
| 96 | MP0000249_abnormal_blood_vessel | 0.53561035 |
| 97 | MP0002928_abnormal_bile_duct | 0.52310904 |
| 98 | MP0002693_abnormal_pancreas_physiology | 0.51981343 |
| 99 | MP0001485_abnormal_pinna_reflex | 0.50803146 |
| 100 | MP0006292_abnormal_olfactory_placode | 0.49313253 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 5.72741326 |
| 2 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 5.69229843 |
| 3 | Tubulointerstitial nephritis (HP:0001970) | 5.14852325 |
| 4 | Hypoplasia of the thymus (HP:0000778) | 4.63728013 |
| 5 | Asymmetric septal hypertrophy (HP:0001670) | 4.25671221 |
| 6 | Absent/shortened dynein arms (HP:0200106) | 4.22978823 |
| 7 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 4.22978823 |
| 8 | Menstrual irregularities (HP:0000858) | 4.21966726 |
| 9 | Chronic hepatic failure (HP:0100626) | 3.92446636 |
| 10 | Male infertility (HP:0003251) | 3.50039523 |
| 11 | Hyperkalemia (HP:0002153) | 3.39287032 |
| 12 | Resting tremor (HP:0002322) | 3.32795749 |
| 13 | Abnormal spermatogenesis (HP:0008669) | 3.21587316 |
| 14 | Cone-rod dystrophy (HP:0000548) | 3.20955980 |
| 15 | Gastrointestinal infarctions (HP:0005244) | 3.17681073 |
| 16 | Abnormality of macular pigmentation (HP:0008002) | 3.15753063 |
| 17 | Azoospermia (HP:0000027) | 3.08000771 |
| 18 | Abnormality of dental color (HP:0011073) | 3.05420601 |
| 19 | Nasal polyposis (HP:0100582) | 3.05254308 |
| 20 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.01554015 |
| 21 | Attenuation of retinal blood vessels (HP:0007843) | 2.90435847 |
| 22 | Impulsivity (HP:0100710) | 2.89344839 |
| 23 | Truncal obesity (HP:0001956) | 2.89253128 |
| 24 | Recurrent pneumonia (HP:0006532) | 2.88287683 |
| 25 | Chronic obstructive pulmonary disease (HP:0006510) | 2.88141513 |
| 26 | Obstructive lung disease (HP:0006536) | 2.88141513 |
| 27 | Abnormal ciliary motility (HP:0012262) | 2.86661064 |
| 28 | Bony spicule pigmentary retinopathy (HP:0007737) | 2.83139162 |
| 29 | Abnormal respiratory motile cilium physiology (HP:0012261) | 2.79508693 |
| 30 | Infertility (HP:0000789) | 2.77624175 |
| 31 | Aplasia/Hypoplasia of the thymus (HP:0010515) | 2.76539418 |
| 32 | Abnormal respiratory epithelium morphology (HP:0012253) | 2.64470440 |
| 33 | Abnormal respiratory motile cilium morphology (HP:0005938) | 2.64470440 |
| 34 | Abnormality of the costochondral junction (HP:0000919) | 2.54844901 |
| 35 | Vasculitis (HP:0002633) | 2.45418160 |
| 36 | Abnormality of macrophages (HP:0004311) | 2.43553603 |
| 37 | Hypoalphalipoproteinemia (HP:0003233) | 2.41794316 |
| 38 | Abnormality of the nasal mucosa (HP:0000433) | 2.40849079 |
| 39 | Osteomalacia (HP:0002749) | 2.40573626 |
| 40 | Progressive sensorineural hearing impairment (HP:0000408) | 2.40484071 |
| 41 | Abnormality of DNA repair (HP:0003254) | 2.39064286 |
| 42 | Nephronophthisis (HP:0000090) | 2.38097070 |
| 43 | Pulmonary fibrosis (HP:0002206) | 2.38031391 |
| 44 | Stomatitis (HP:0010280) | 2.37664042 |
| 45 | Failure to thrive in infancy (HP:0001531) | 2.36910967 |
| 46 | Gingivitis (HP:0000230) | 2.36808809 |
| 47 | Enlarged epiphyses (HP:0010580) | 2.36265560 |
| 48 | Tubulointerstitial abnormality (HP:0001969) | 2.35168667 |
| 49 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.33474329 |
| 50 | Meningitis (HP:0001287) | 2.30551353 |
| 51 | Portal hypertension (HP:0001409) | 2.26781533 |
| 52 | T lymphocytopenia (HP:0005403) | 2.25467903 |
| 53 | Abnormality of the hepatic vasculature (HP:0006707) | 2.24357288 |
| 54 | Amelogenesis imperfecta (HP:0000705) | 2.23668154 |
| 55 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 2.19508096 |
| 56 | Bell-shaped thorax (HP:0001591) | 2.17348752 |
| 57 | Recurrent fungal infections (HP:0002841) | 2.17219840 |
| 58 | Inflammation of the large intestine (HP:0002037) | 2.16763097 |
| 59 | Hypergonadotropic hypogonadism (HP:0000815) | 2.15780640 |
| 60 | Gastrointestinal stroma tumor (HP:0100723) | 2.15196131 |
| 61 | Postural instability (HP:0002172) | 2.14945655 |
| 62 | Gastrointestinal inflammation (HP:0004386) | 2.13533710 |
| 63 | Recurrent bacterial skin infections (HP:0005406) | 2.11083975 |
| 64 | Panhypogammaglobulinemia (HP:0003139) | 2.10604883 |
| 65 | Agammaglobulinemia (HP:0004432) | 2.09933607 |
| 66 | Renal Fanconi syndrome (HP:0001994) | 2.08620585 |
| 67 | Abnormality of T cell number (HP:0011839) | 2.08483107 |
| 68 | Recurrent lower respiratory tract infections (HP:0002783) | 2.07156883 |
| 69 | Generalized aminoaciduria (HP:0002909) | 2.05852584 |
| 70 | Recurrent abscess formation (HP:0002722) | 2.05434994 |
| 71 | Retrobulbar optic neuritis (HP:0100654) | 2.05100983 |
| 72 | Optic neuritis (HP:0100653) | 2.05100983 |
| 73 | Abnormality of the thymus (HP:0000777) | 2.05061876 |
| 74 | Unilateral renal agenesis (HP:0000122) | 2.01718119 |
| 75 | Abnormality of T cells (HP:0002843) | 2.01604950 |
| 76 | Peritonitis (HP:0002586) | 2.00544458 |
| 77 | Acute hepatic failure (HP:0006554) | 2.00487203 |
| 78 | Colitis (HP:0002583) | 1.99367508 |
| 79 | Horizontal nystagmus (HP:0000666) | 1.98945812 |
| 80 | Elevated erythrocyte sedimentation rate (HP:0003565) | 1.98888517 |
| 81 | Mediastinal lymphadenopathy (HP:0100721) | 1.98435469 |
| 82 | Pulmonary infiltrates (HP:0002113) | 1.98012217 |
| 83 | Subcapsular cataract (HP:0000523) | 1.94487740 |
| 84 | Stage 5 chronic kidney disease (HP:0003774) | 1.93157436 |
| 85 | Abnormality of the renal medulla (HP:0100957) | 1.91749704 |
| 86 | Chest pain (HP:0100749) | 1.91228906 |
| 87 | Glomerulopathy (HP:0100820) | 1.89089855 |
| 88 | Fatigue (HP:0012378) | 1.88788916 |
| 89 | Recurrent viral infections (HP:0004429) | 1.88342695 |
| 90 | Progressive hearing impairment (HP:0001730) | 1.87765337 |
| 91 | Facial shape deformation (HP:0011334) | 1.86146389 |
| 92 | Potter facies (HP:0002009) | 1.86146389 |
| 93 | Progressive cerebellar ataxia (HP:0002073) | 1.86046170 |
| 94 | Leukocytosis (HP:0001974) | 1.84473920 |
| 95 | Abnormality of lateral ventricle (HP:0030047) | 1.83065999 |
| 96 | Hypertensive crisis (HP:0100735) | 1.82604929 |
| 97 | Insulin-resistant diabetes mellitus (HP:0000831) | 1.81608031 |
| 98 | Thrombocytosis (HP:0001894) | 1.81378156 |
| 99 | Orchitis (HP:0100796) | 1.81328023 |
| 100 | Myositis (HP:0100614) | 1.81030112 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 7.13095903 |
| 2 | BRD4 | 3.91107539 |
| 3 | RIPK4 | 3.72231874 |
| 4 | PNCK | 2.80023253 |
| 5 | CDK19 | 2.75700008 |
| 6 | DDR2 | 2.57033093 |
| 7 | PIK3CG | 2.46701792 |
| 8 | TESK1 | 2.46624308 |
| 9 | INSRR | 2.36459524 |
| 10 | STK38 | 2.30283872 |
| 11 | PLK2 | 2.23196732 |
| 12 | TXK | 2.11169669 |
| 13 | CAMK1G | 1.88955667 |
| 14 | CDK12 | 1.79432696 |
| 15 | TYRO3 | 1.74907332 |
| 16 | MAP4K1 | 1.74226989 |
| 17 | MATK | 1.67382285 |
| 18 | JAK3 | 1.51996364 |
| 19 | PDK1 | 1.50560785 |
| 20 | PDPK1 | 1.41153795 |
| 21 | KIT | 1.40957256 |
| 22 | MAP3K14 | 1.34513528 |
| 23 | SYK | 1.34289944 |
| 24 | MAP4K2 | 1.31542311 |
| 25 | PRPF4B | 1.30258519 |
| 26 | BMPR2 | 1.29848914 |
| 27 | DYRK1B | 1.28732839 |
| 28 | BLK | 1.28053283 |
| 29 | STK38L | 1.27790616 |
| 30 | TAOK3 | 1.26792352 |
| 31 | MAP3K13 | 1.25926275 |
| 32 | TAF1 | 1.24779112 |
| 33 | TEC | 1.23832532 |
| 34 | PRKD3 | 1.18084886 |
| 35 | PTK2B | 1.16246317 |
| 36 | MAP3K2 | 1.08836555 |
| 37 | MAP3K11 | 1.08610681 |
| 38 | CSF1R | 1.07266515 |
| 39 | CSK | 1.00240658 |
| 40 | CDK7 | 0.92847206 |
| 41 | BTK | 0.86410977 |
| 42 | KSR2 | 0.86150900 |
| 43 | IRAK4 | 0.83919159 |
| 44 | TYK2 | 0.81775703 |
| 45 | ACVR1B | 0.80545808 |
| 46 | FGFR3 | 0.80075306 |
| 47 | IKBKB | 0.79523497 |
| 48 | WNK1 | 0.79297471 |
| 49 | TBK1 | 0.78873234 |
| 50 | MAP3K1 | 0.74147016 |
| 51 | GRK7 | 0.72489690 |
| 52 | CDK3 | 0.70478236 |
| 53 | MAP2K3 | 0.69726096 |
| 54 | STK3 | 0.67151880 |
| 55 | TIE1 | 0.65630479 |
| 56 | SIK2 | 0.64282783 |
| 57 | MAPK15 | 0.60581722 |
| 58 | PRKCQ | 0.59655223 |
| 59 | LYN | 0.58548296 |
| 60 | CDK4 | 0.58129229 |
| 61 | ZAP70 | 0.57509419 |
| 62 | MAP3K7 | 0.56561185 |
| 63 | NEK6 | 0.55635869 |
| 64 | MARK3 | 0.54547811 |
| 65 | JAK2 | 0.54121977 |
| 66 | TAOK2 | 0.53231738 |
| 67 | HCK | 0.51501186 |
| 68 | STK24 | 0.51251745 |
| 69 | CDK9 | 0.49679083 |
| 70 | ERN1 | 0.49640421 |
| 71 | ITK | 0.49605372 |
| 72 | LCK | 0.49520448 |
| 73 | WNK4 | 0.47542161 |
| 74 | RPS6KC1 | 0.46653418 |
| 75 | RPS6KL1 | 0.46653418 |
| 76 | MAP3K4 | 0.44909259 |
| 77 | MST1R | 0.42419811 |
| 78 | FES | 0.42004067 |
| 79 | NUAK1 | 0.41132397 |
| 80 | RPS6KA1 | 0.40625855 |
| 81 | PRKD2 | 0.39401055 |
| 82 | IKBKE | 0.38829387 |
| 83 | RPS6KA6 | 0.37304394 |
| 84 | PRKG1 | 0.36666788 |
| 85 | YES1 | 0.36434083 |
| 86 | MAPK1 | 0.36170545 |
| 87 | CHEK1 | 0.35796210 |
| 88 | MARK2 | 0.35504160 |
| 89 | AKT3 | 0.34604139 |
| 90 | CDK2 | 0.34032946 |
| 91 | MAPK7 | 0.33973071 |
| 92 | TNK2 | 0.33240605 |
| 93 | PINK1 | 0.33169709 |
| 94 | CAMK1 | 0.30530183 |
| 95 | CAMK1D | 0.30347029 |
| 96 | SGK1 | 0.29676460 |
| 97 | IRAK3 | 0.29080595 |
| 98 | PASK | 0.28234226 |
| 99 | MAP3K5 | 0.28141039 |
| 100 | MAP3K8 | 0.27942685 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 4.07937071 |
| 2 | Allograft rejection_Homo sapiens_hsa05330 | 3.37074427 |
| 3 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 3.19039049 |
| 4 | Graft-versus-host disease_Homo sapiens_hsa05332 | 3.10502503 |
| 5 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 2.80894714 |
| 6 | Asthma_Homo sapiens_hsa05310 | 2.60031534 |
| 7 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 2.59962847 |
| 8 | Leishmaniasis_Homo sapiens_hsa05140 | 2.45473722 |
| 9 | Primary immunodeficiency_Homo sapiens_hsa05340 | 2.43211485 |
| 10 | Antigen processing and presentation_Homo sapiens_hsa04612 | 2.34261205 |
| 11 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 2.27743327 |
| 12 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 2.25712139 |
| 13 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 2.12440929 |
| 14 | Influenza A_Homo sapiens_hsa05164 | 1.96342941 |
| 15 | Herpes simplex infection_Homo sapiens_hsa05168 | 1.85285194 |
| 16 | Toll-like receptor signaling pathway_Homo sapiens_hsa04620 | 1.75666464 |
| 17 | Osteoclast differentiation_Homo sapiens_hsa04380 | 1.74380803 |
| 18 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 1.72114651 |
| 19 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 1.61936055 |
| 20 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 1.60588661 |
| 21 | Viral myocarditis_Homo sapiens_hsa05416 | 1.58958974 |
| 22 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 1.53347709 |
| 23 | RNA transport_Homo sapiens_hsa03013 | 1.53328525 |
| 24 | Olfactory transduction_Homo sapiens_hsa04740 | 1.51314562 |
| 25 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.48205588 |
| 26 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 1.46673570 |
| 27 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 1.42104837 |
| 28 | Tuberculosis_Homo sapiens_hsa05152 | 1.38002907 |
| 29 | RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622 | 1.36977807 |
| 30 | T cell receptor signaling pathway_Homo sapiens_hsa04660 | 1.34988846 |
| 31 | Other glycan degradation_Homo sapiens_hsa00511 | 1.30781163 |
| 32 | Toxoplasmosis_Homo sapiens_hsa05145 | 1.30599416 |
| 33 | Measles_Homo sapiens_hsa05162 | 1.27043045 |
| 34 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 1.25584036 |
| 35 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 1.23168898 |
| 36 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 1.13236652 |
| 37 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.12757584 |
| 38 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.08862873 |
| 39 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.06854985 |
| 40 | Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650 | 1.05716295 |
| 41 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 1.04279030 |
| 42 | Chemokine signaling pathway_Homo sapiens_hsa04062 | 1.02508194 |
| 43 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 1.01446300 |
| 44 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.99451590 |
| 45 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.97252357 |
| 46 | Base excision repair_Homo sapiens_hsa03410 | 0.96754746 |
| 47 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.93908864 |
| 48 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.93326350 |
| 49 | Legionellosis_Homo sapiens_hsa05134 | 0.90569858 |
| 50 | TNF signaling pathway_Homo sapiens_hsa04668 | 0.88424782 |
| 51 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.87038291 |
| 52 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.84374957 |
| 53 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.84126175 |
| 54 | Fc epsilon RI signaling pathway_Homo sapiens_hsa04664 | 0.83477284 |
| 55 | African trypanosomiasis_Homo sapiens_hsa05143 | 0.80457314 |
| 56 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.80429076 |
| 57 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.79428796 |
| 58 | Endocytosis_Homo sapiens_hsa04144 | 0.78375525 |
| 59 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.74424007 |
| 60 | Hepatitis B_Homo sapiens_hsa05161 | 0.74373650 |
| 61 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.69895051 |
| 62 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.68915050 |
| 63 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.67482837 |
| 64 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.67457434 |
| 65 | Basal transcription factors_Homo sapiens_hsa03022 | 0.65604416 |
| 66 | HTLV-I infection_Homo sapiens_hsa05166 | 0.65008579 |
| 67 | Lysosome_Homo sapiens_hsa04142 | 0.62460743 |
| 68 | Phagosome_Homo sapiens_hsa04145 | 0.61553661 |
| 69 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.61447021 |
| 70 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.58866068 |
| 71 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.58291911 |
| 72 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.54145652 |
| 73 | Chagas disease (American trypanosomiasis)_Homo sapiens_hsa05142 | 0.53334822 |
| 74 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.53259217 |
| 75 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.50244046 |
| 76 | Malaria_Homo sapiens_hsa05144 | 0.49427955 |
| 77 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.47947625 |
| 78 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.47904047 |
| 79 | Shigellosis_Homo sapiens_hsa05131 | 0.46114889 |
| 80 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 0.45309179 |
| 81 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.43416164 |
| 82 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.43186582 |
| 83 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.42959405 |
| 84 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.38926367 |
| 85 | Platelet activation_Homo sapiens_hsa04611 | 0.38072540 |
| 86 | Homologous recombination_Homo sapiens_hsa03440 | 0.37932842 |
| 87 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 0.37308641 |
| 88 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.35406188 |
| 89 | Pertussis_Homo sapiens_hsa05133 | 0.35360049 |
| 90 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.35248830 |
| 91 | Salmonella infection_Homo sapiens_hsa05132 | 0.33809719 |
| 92 | Sulfur relay system_Homo sapiens_hsa04122 | 0.31161565 |
| 93 | Cell cycle_Homo sapiens_hsa04110 | 0.29868900 |
| 94 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.27831160 |
| 95 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.25833762 |
| 96 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.24920757 |
| 97 | Hepatitis C_Homo sapiens_hsa05160 | 0.24848646 |
| 98 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.23750507 |
| 99 | Ribosome_Homo sapiens_hsa03010 | 0.22846861 |
| 100 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.22174823 |

