

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | meiotic nuclear division (GO:0007126) | 9.08618425 |
| 2 | DNA methylation involved in gamete generation (GO:0043046) | 9.05728548 |
| 3 | regulation of meiosis I (GO:0060631) | 8.24855591 |
| 4 | meiotic cell cycle process (GO:1903046) | 7.66410522 |
| 5 | sister chromatid cohesion (GO:0007062) | 6.69347830 |
| 6 | reciprocal meiotic recombination (GO:0007131) | 5.81129977 |
| 7 | reciprocal DNA recombination (GO:0035825) | 5.81129977 |
| 8 | resolution of meiotic recombination intermediates (GO:0000712) | 5.60390224 |
| 9 | meiotic chromosome segregation (GO:0045132) | 5.51892402 |
| 10 | gene silencing by RNA (GO:0031047) | 5.12703646 |
| 11 | female gamete generation (GO:0007292) | 4.78227700 |
| 12 | proteasome assembly (GO:0043248) | 4.55108802 |
| 13 | gonadal mesoderm development (GO:0007506) | 4.55040085 |
| 14 | meiotic cell cycle (GO:0051321) | 4.54940219 |
| 15 | positive regulation of meiosis (GO:0045836) | 4.23126124 |
| 16 | binding of sperm to zona pellucida (GO:0007339) | 4.15456735 |
| 17 | histone exchange (GO:0043486) | 4.13106246 |
| 18 | regulation of meiotic cell cycle (GO:0051445) | 4.13093853 |
| 19 | positive regulation of meiotic cell cycle (GO:0051446) | 3.99685155 |
| 20 | regulation of histone H3-K9 methylation (GO:0051570) | 3.80100432 |
| 21 | histone H3-K9 demethylation (GO:0033169) | 3.72410953 |
| 22 | fusion of sperm to egg plasma membrane (GO:0007342) | 3.67722239 |
| 23 | oogenesis (GO:0048477) | 3.61482732 |
| 24 | DNA biosynthetic process (GO:0071897) | 3.59025424 |
| 25 | protein neddylation (GO:0045116) | 3.58753170 |
| 26 | spermatid development (GO:0007286) | 3.55942537 |
| 27 | reproductive system development (GO:0061458) | 3.54939117 |
| 28 | sperm-egg recognition (GO:0035036) | 3.49508990 |
| 29 | chromosome organization (GO:0051276) | 3.45460005 |
| 30 | DNA methylation (GO:0006306) | 3.28024231 |
| 31 | DNA alkylation (GO:0006305) | 3.28024231 |
| 32 | fertilization (GO:0009566) | 3.26715558 |
| 33 | acrosome assembly (GO:0001675) | 3.25622532 |
| 34 | sperm motility (GO:0030317) | 3.23329509 |
| 35 | mitotic sister chromatid cohesion (GO:0007064) | 3.21317022 |
| 36 | gene silencing (GO:0016458) | 3.19224576 |
| 37 | positive regulation of response to oxidative stress (GO:1902884) | 3.18393356 |
| 38 | positive regulation of cellular response to oxidative stress (GO:1900409) | 3.18393356 |
| 39 | regulation of meiosis (GO:0040020) | 3.15769245 |
| 40 | regulation of DNA endoreduplication (GO:0032875) | 3.15274712 |
| 41 | negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736) | 3.10382467 |
| 42 | acrosome reaction (GO:0007340) | 3.07464388 |
| 43 | melanin biosynthetic process (GO:0042438) | 3.04986434 |
| 44 | male gamete generation (GO:0048232) | 3.02831124 |
| 45 | spermatogenesis (GO:0007283) | 3.02492543 |
| 46 | gamete generation (GO:0007276) | 2.96910269 |
| 47 | histone H2A acetylation (GO:0043968) | 2.95634649 |
| 48 | nuclear division (GO:0000280) | 2.94516096 |
| 49 | negative regulation of meiosis (GO:0045835) | 2.94097190 |
| 50 | CENP-A containing nucleosome assembly (GO:0034080) | 2.94026819 |
| 51 | germ cell development (GO:0007281) | 2.92235040 |
| 52 | DNA packaging (GO:0006323) | 2.87443261 |
| 53 | DNA replication checkpoint (GO:0000076) | 2.86413436 |
| 54 | mitotic chromosome condensation (GO:0007076) | 2.85413957 |
| 55 | plasma membrane fusion (GO:0045026) | 2.85103742 |
| 56 | protein localization to chromosome (GO:0034502) | 2.82172659 |
| 57 | attachment of spindle microtubules to kinetochore (GO:0008608) | 2.79061104 |
| 58 | organelle fission (GO:0048285) | 2.78407215 |
| 59 | DNA catabolic process, exonucleolytic (GO:0000738) | 2.75610779 |
| 60 | chromatin remodeling at centromere (GO:0031055) | 2.74645181 |
| 61 | negative regulation of inclusion body assembly (GO:0090084) | 2.71214265 |
| 62 | microtubule depolymerization (GO:0007019) | 2.66693949 |
| 63 | cell-cell recognition (GO:0009988) | 2.66061603 |
| 64 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 2.61751315 |
| 65 | melanin metabolic process (GO:0006582) | 2.60423285 |
| 66 | positive regulation of receptor recycling (GO:0001921) | 2.52335289 |
| 67 | DNA replication-dependent nucleosome assembly (GO:0006335) | 2.47750464 |
| 68 | DNA replication-dependent nucleosome organization (GO:0034723) | 2.47750464 |
| 69 | polyamine biosynthetic process (GO:0006596) | 2.47160661 |
| 70 | secondary metabolite biosynthetic process (GO:0044550) | 2.43737651 |
| 71 | negative regulation of gene silencing (GO:0060969) | 2.42740967 |
| 72 | regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079) | 2.42393655 |
| 73 | regulation of cilium movement (GO:0003352) | 2.42369089 |
| 74 | centriole replication (GO:0007099) | 2.41522980 |
| 75 | regulation of centriole replication (GO:0046599) | 2.40429828 |
| 76 | mitotic metaphase plate congression (GO:0007080) | 2.37565586 |
| 77 | negative regulation of response to food (GO:0032096) | 2.36624217 |
| 78 | negative regulation of appetite (GO:0032099) | 2.36624217 |
| 79 | DNA methylation or demethylation (GO:0044728) | 2.36518576 |
| 80 | DNA replication-independent nucleosome organization (GO:0034724) | 2.35472800 |
| 81 | DNA replication-independent nucleosome assembly (GO:0006336) | 2.35472800 |
| 82 | genitalia morphogenesis (GO:0035112) | 2.33298079 |
| 83 | chromosome segregation (GO:0007059) | 2.30523331 |
| 84 | chaperone-mediated protein complex assembly (GO:0051131) | 2.29885023 |
| 85 | mitotic spindle assembly checkpoint (GO:0007094) | 2.29659090 |
| 86 | multicellular organismal reproductive process (GO:0048609) | 2.29375430 |
| 87 | protein refolding (GO:0042026) | 2.27782279 |
| 88 | regulation of microtubule-based movement (GO:0060632) | 2.27211237 |
| 89 | regulation of chromosome segregation (GO:0051983) | 2.27197342 |
| 90 | histone H3-K36 demethylation (GO:0070544) | 2.26656360 |
| 91 | centriole assembly (GO:0098534) | 2.26527161 |
| 92 | synapsis (GO:0007129) | 14.9396013 |
| 93 | chromosome organization involved in meiosis (GO:0070192) | 13.4982377 |
| 94 | synaptonemal complex assembly (GO:0007130) | 13.3790072 |
| 95 | piRNA metabolic process (GO:0034587) | 12.7944109 |
| 96 | male meiosis I (GO:0007141) | 12.2448740 |
| 97 | synaptonemal complex organization (GO:0070193) | 12.1538122 |
| 98 | DNA synthesis involved in DNA repair (GO:0000731) | 11.2613153 |
| 99 | male meiosis (GO:0007140) | 10.6338332 |
| 100 | meiosis I (GO:0007127) | 10.3670873 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 6.84821624 |
| 2 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 6.37735085 |
| 3 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 3.27372502 |
| 4 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 2.85071586 |
| 5 | E2F7_22180533_ChIP-Seq_HELA_Human | 2.73759999 |
| 6 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 2.49398775 |
| 7 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.49006204 |
| 8 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.34581985 |
| 9 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 2.33491286 |
| 10 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 2.31034320 |
| 11 | DCP1A_22483619_ChIP-Seq_HELA_Human | 2.21454894 |
| 12 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.19136668 |
| 13 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 2.18576722 |
| 14 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 2.13935930 |
| 15 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 2.02432915 |
| 16 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 1.99963392 |
| 17 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 1.96601530 |
| 18 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.92236379 |
| 19 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 1.79008433 |
| 20 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.73572932 |
| 21 | FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 1.71996117 |
| 22 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.69707663 |
| 23 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 1.68869343 |
| 24 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.66914856 |
| 25 | PRDM5_23873026_ChIP-Seq_MEFs_Mouse | 1.65390903 |
| 26 | GABP_19822575_ChIP-Seq_HepG2_Human | 1.65056183 |
| 27 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.64656065 |
| 28 | VDR_22108803_ChIP-Seq_LS180_Human | 1.62133725 |
| 29 | HTT_18923047_ChIP-ChIP_STHdh_Human | 1.50288191 |
| 30 | VDR_23849224_ChIP-Seq_CD4+_Human | 1.49442444 |
| 31 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.48140945 |
| 32 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 1.47976730 |
| 33 | ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.47241068 |
| 34 | SRF_21415370_ChIP-Seq_HL-1_Mouse | 1.44550126 |
| 35 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 1.41744473 |
| 36 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 1.38689301 |
| 37 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.35910983 |
| 38 | TFEB_21752829_ChIP-Seq_HELA_Human | 1.33305017 |
| 39 | PADI4_21655091_ChIP-ChIP_MCF-7_Human | 1.32705342 |
| 40 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.32269265 |
| 41 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.31947194 |
| 42 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.31627282 |
| 43 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.29505923 |
| 44 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.24414505 |
| 45 | KLF2_18264089_ChIP-ChIP_MESCs_Mouse | 1.23360068 |
| 46 | KLF5_18264089_ChIP-ChIP_MESCs_Mouse | 1.23360068 |
| 47 | KLF4_18264089_ChIP-ChIP_MESCs_Mouse | 1.23360068 |
| 48 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.21706139 |
| 49 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 1.20328019 |
| 50 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.19848761 |
| 51 | HOXB4_20404135_ChIP-ChIP_EML_Mouse | 1.19241329 |
| 52 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.19056714 |
| 53 | FUS_26573619_Chip-Seq_HEK293_Human | 1.15574113 |
| 54 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.15497567 |
| 55 | * ERA_21632823_ChIP-Seq_H3396_Human | 1.14342333 |
| 56 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 1.14097553 |
| 57 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.13974758 |
| 58 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 1.11831982 |
| 59 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.11067145 |
| 60 | EWS_26573619_Chip-Seq_HEK293_Human | 1.10552911 |
| 61 | E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human | 1.09966864 |
| 62 | FOXP3_21729870_ChIP-Seq_TREG_Human | 1.09785367 |
| 63 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.08649931 |
| 64 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.08426898 |
| 65 | KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 1.08326190 |
| 66 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 1.05766522 |
| 67 | KDM5A_27292631_Chip-Seq_BREAST_Human | 1.05688481 |
| 68 | GATA3_26560356_Chip-Seq_TH1_Human | 1.04577643 |
| 69 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.04350236 |
| 70 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.04264876 |
| 71 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.00417585 |
| 72 | ETV1_20927104_ChIP-Seq_GIST48_Human | 0.99794600 |
| 73 | E2F1_18555785_ChIP-Seq_MESCs_Mouse | 0.99338048 |
| 74 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 0.99120731 |
| 75 | TAF15_26573619_Chip-Seq_HEK293_Human | 0.97801140 |
| 76 | GATA3_20176728_ChIP-ChIP_TSCs_Mouse | 0.95344397 |
| 77 | ERG_20517297_ChIP-Seq_VCAP_Human | 0.94703441 |
| 78 | ZNF274_21170338_ChIP-Seq_K562_Hela | 0.94333776 |
| 79 | * UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 0.94245082 |
| 80 | ERG_20887958_ChIP-Seq_HPC-7_Mouse | 0.94035126 |
| 81 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 0.93961463 |
| 82 | AR_20517297_ChIP-Seq_VCAP_Human | 0.92872604 |
| 83 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 0.92865787 |
| 84 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 0.92865787 |
| 85 | TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.91860214 |
| 86 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 0.90711695 |
| 87 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 0.90127335 |
| 88 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 0.89760060 |
| 89 | ELK1_19687146_ChIP-ChIP_HELA_Human | 0.89375539 |
| 90 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 0.87670946 |
| 91 | TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse | 0.87649031 |
| 92 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 0.87347006 |
| 93 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 0.86994335 |
| 94 | TP53_22573176_ChIP-Seq_HFKS_Human | 0.86682046 |
| 95 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 0.86350348 |
| 96 | PKCTHETA_26484144_Chip-Seq_BREAST_Human | 0.86047615 |
| 97 | SOX2_21211035_ChIP-Seq_LN229_Human | 0.85879124 |
| 98 | ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 0.85045886 |
| 99 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 0.84337648 |
| 100 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 0.83986531 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0008877_abnormal_DNA_methylation | 6.89386073 |
| 2 | MP0008004_abnormal_stomach_pH | 5.04258518 |
| 3 | MP0008058_abnormal_DNA_repair | 4.98436477 |
| 4 | MP0000372_irregular_coat_pigmentation | 4.87625147 |
| 5 | MP0002210_abnormal_sex_determination | 4.28443272 |
| 6 | MP0001929_abnormal_gametogenesis | 3.93906266 |
| 7 | MP0005410_abnormal_fertilization | 3.53969952 |
| 8 | MP0003698_abnormal_male_reproductive | 3.43901874 |
| 9 | MP0003136_yellow_coat_color | 3.39863702 |
| 10 | MP0003718_maternal_effect | 3.29365911 |
| 11 | MP0002160_abnormal_reproductive_system | 3.15183009 |
| 12 | MP0001145_abnormal_male_reproductive | 3.15023997 |
| 13 | MP0005464_abnormal_platelet_physiology | 3.13138176 |
| 14 | MP0000653_abnormal_sex_gland | 3.00120839 |
| 15 | MP0010094_abnormal_chromosome_stability | 2.41110506 |
| 16 | MP0002161_abnormal_fertility/fecundity | 2.06751863 |
| 17 | MP0001119_abnormal_female_reproductive | 1.98446243 |
| 18 | MP0005389_reproductive_system_phenotype | 1.97574377 |
| 19 | MP0000015_abnormal_ear_pigmentation | 1.94370421 |
| 20 | MP0005075_abnormal_melanosome_morpholog | 1.92753343 |
| 21 | MP0005058_abnormal_lysosome_morphology | 1.90670558 |
| 22 | MP0003693_abnormal_embryo_hatching | 1.81590052 |
| 23 | MP0003699_abnormal_female_reproductive | 1.80135474 |
| 24 | MP0003111_abnormal_nucleus_morphology | 1.77191625 |
| 25 | MP0005171_absent_coat_pigmentation | 1.72609276 |
| 26 | MP0005174_abnormal_tail_pigmentation | 1.72090369 |
| 27 | MP0002095_abnormal_skin_pigmentation | 1.60944938 |
| 28 | MP0000678_abnormal_parathyroid_gland | 1.59748452 |
| 29 | MP0003646_muscle_fatigue | 1.54207926 |
| 30 | MP0008789_abnormal_olfactory_epithelium | 1.53798650 |
| 31 | MP0008932_abnormal_embryonic_tissue | 1.53463034 |
| 32 | MP0003077_abnormal_cell_cycle | 1.45087933 |
| 33 | MP0005408_hypopigmentation | 1.41099478 |
| 34 | MP0002877_abnormal_melanocyte_morpholog | 1.39669771 |
| 35 | MP0010368_abnormal_lymphatic_system | 1.37611630 |
| 36 | MP0004381_abnormal_hair_follicle | 1.32256050 |
| 37 | MP0004957_abnormal_blastocyst_morpholog | 1.28941246 |
| 38 | MP0005499_abnormal_olfactory_system | 1.28426371 |
| 39 | MP0005394_taste/olfaction_phenotype | 1.28426371 |
| 40 | MP0006036_abnormal_mitochondrial_physio | 1.28147422 |
| 41 | MP0000358_abnormal_cell_content/ | 1.23456922 |
| 42 | MP0002132_abnormal_respiratory_system | 1.16336688 |
| 43 | MP0004147_increased_porphyrin_level | 1.07602756 |
| 44 | MP0003186_abnormal_redox_activity | 1.07220079 |
| 45 | MP0006035_abnormal_mitochondrial_morpho | 1.06947342 |
| 46 | MP0001730_embryonic_growth_arrest | 1.05919684 |
| 47 | MP0008007_abnormal_cellular_replicative | 1.03913145 |
| 48 | MP0008995_early_reproductive_senescence | 1.02352740 |
| 49 | MP0005395_other_phenotype | 0.97766327 |
| 50 | MP0002638_abnormal_pupillary_reflex | 0.93018165 |
| 51 | MP0010234_abnormal_vibrissa_follicle | 0.92289413 |
| 52 | MP0001984_abnormal_olfaction | 0.90912140 |
| 53 | MP0008260_abnormal_autophagy | 0.88158543 |
| 54 | MP0001188_hyperpigmentation | 0.84992072 |
| 55 | MP0005647_abnormal_sex_gland | 0.84643434 |
| 56 | MP0001879_abnormal_lymphatic_vessel | 0.84430921 |
| 57 | MP0004036_abnormal_muscle_relaxation | 0.83727423 |
| 58 | MP0002653_abnormal_ependyma_morphology | 0.82297092 |
| 59 | MP0005646_abnormal_pituitary_gland | 0.82181340 |
| 60 | MP0003786_premature_aging | 0.81185079 |
| 61 | MP0001661_extended_life_span | 0.80855676 |
| 62 | MP0005187_abnormal_penis_morphology | 0.80696504 |
| 63 | MP0010030_abnormal_orbit_morphology | 0.72948765 |
| 64 | MP0002090_abnormal_vision | 0.70185001 |
| 65 | MP0001664_abnormal_digestion | 0.68317541 |
| 66 | MP0004215_abnormal_myocardial_fiber | 0.65736686 |
| 67 | MP0002736_abnormal_nociception_after | 0.64784422 |
| 68 | MP0010307_abnormal_tumor_latency | 0.64150379 |
| 69 | MP0001697_abnormal_embryo_size | 0.63900201 |
| 70 | MP0002139_abnormal_hepatobiliary_system | 0.63416283 |
| 71 | MP0001986_abnormal_taste_sensitivity | 0.61780014 |
| 72 | MP0000313_abnormal_cell_death | 0.61027223 |
| 73 | MP0000350_abnormal_cell_proliferation | 0.60543335 |
| 74 | MP0001324_abnormal_eye_pigmentation | 0.59633700 |
| 75 | MP0003806_abnormal_nucleotide_metabolis | 0.59524522 |
| 76 | MP0003879_abnormal_hair_cell | 0.57917492 |
| 77 | MP0005084_abnormal_gallbladder_morpholo | 0.55785028 |
| 78 | MP0004019_abnormal_vitamin_homeostasis | 0.55467628 |
| 79 | MP0001919_abnormal_reproductive_system | 0.52998113 |
| 80 | MP0005551_abnormal_eye_electrophysiolog | 0.52687348 |
| 81 | MP0005501_abnormal_skin_physiology | 0.50910556 |
| 82 | MP0000371_diluted_coat_color | 0.50842376 |
| 83 | MP0005380_embryogenesis_phenotype | 0.50790051 |
| 84 | MP0001672_abnormal_embryogenesis/_devel | 0.50790051 |
| 85 | MP0004885_abnormal_endolymph | 0.48341775 |
| 86 | MP0002075_abnormal_coat/hair_pigmentati | 0.48055895 |
| 87 | MP0003638_abnormal_response/metabolism_ | 0.46446943 |
| 88 | MP0008057_abnormal_DNA_replication | 0.45737488 |
| 89 | MP0002080_prenatal_lethality | 0.45460866 |
| 90 | MP0002084_abnormal_developmental_patter | 0.44429434 |
| 91 | MP0005423_abnormal_somatic_nervous | 0.43552243 |
| 92 | MP0000230_abnormal_systemic_arterial | 0.42894892 |
| 93 | MP0004233_abnormal_muscle_weight | 0.41569351 |
| 94 | MP0002822_catalepsy | 0.41172510 |
| 95 | MP0006292_abnormal_olfactory_placode | 0.40631627 |
| 96 | MP0001915_intracranial_hemorrhage | 0.40477930 |
| 97 | MP0004142_abnormal_muscle_tone | 0.39916023 |
| 98 | MP0002938_white_spotting | 0.39862854 |
| 99 | MP0001485_abnormal_pinna_reflex | 0.38267596 |
| 100 | MP0005384_cellular_phenotype | 0.37938493 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Spontaneous abortion (HP:0005268) | 6.11634094 |
| 2 | Azoospermia (HP:0000027) | 5.82558359 |
| 3 | Abnormal spermatogenesis (HP:0008669) | 4.93743396 |
| 4 | Gonadotropin excess (HP:0000837) | 4.26601405 |
| 5 | Petechiae (HP:0000967) | 3.97018102 |
| 6 | Male infertility (HP:0003251) | 3.91546052 |
| 7 | Prolonged bleeding time (HP:0003010) | 3.77336449 |
| 8 | Horizontal nystagmus (HP:0000666) | 3.59102784 |
| 9 | Tubulointerstitial nephritis (HP:0001970) | 3.56076262 |
| 10 | Decreased central vision (HP:0007663) | 3.52599231 |
| 11 | Atrophy/Degeneration involving the corticospinal tracts (HP:0007372) | 3.52580104 |
| 12 | Degeneration of the lateral corticospinal tracts (HP:0002314) | 3.52580104 |
| 13 | Upper limb muscle weakness (HP:0003484) | 3.46779196 |
| 14 | Volvulus (HP:0002580) | 3.45753372 |
| 15 | Menorrhagia (HP:0000132) | 3.31090442 |
| 16 | Abnormal ciliary motility (HP:0012262) | 3.04874539 |
| 17 | Dyschromatopsia (HP:0007641) | 3.03207090 |
| 18 | Infertility (HP:0000789) | 3.03190123 |
| 19 | Absent/shortened dynein arms (HP:0200106) | 2.90101842 |
| 20 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 2.90101842 |
| 21 | Chromsome breakage (HP:0040012) | 2.88849128 |
| 22 | Ventricular fibrillation (HP:0001663) | 2.88485656 |
| 23 | Abnormal respiratory motile cilium physiology (HP:0012261) | 2.86821125 |
| 24 | Increased mean platelet volume (HP:0011877) | 2.86490993 |
| 25 | Generalized aminoaciduria (HP:0002909) | 2.86015513 |
| 26 | Purpura (HP:0000979) | 2.81263286 |
| 27 | White forelock (HP:0002211) | 2.79915587 |
| 28 | Oligodactyly (hands) (HP:0001180) | 2.72262423 |
| 29 | Abnormality of the corticospinal tract (HP:0002492) | 2.70821172 |
| 30 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 2.68361752 |
| 31 | Abnormality of alanine metabolism (HP:0010916) | 2.68361752 |
| 32 | Hyperalaninemia (HP:0003348) | 2.68361752 |
| 33 | Patchy hypopigmentation of hair (HP:0011365) | 2.68186445 |
| 34 | Acanthocytosis (HP:0001927) | 2.66982033 |
| 35 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 2.61811477 |
| 36 | Abnormal respiratory epithelium morphology (HP:0012253) | 2.60997973 |
| 37 | Abnormal respiratory motile cilium morphology (HP:0005938) | 2.60997973 |
| 38 | Cutaneous melanoma (HP:0012056) | 2.60254831 |
| 39 | Ectopic kidney (HP:0000086) | 2.57056136 |
| 40 | Hyperlipoproteinemia (HP:0010980) | 2.56824961 |
| 41 | Scotoma (HP:0000575) | 2.56679618 |
| 42 | Hypophosphatemic rickets (HP:0004912) | 2.55117185 |
| 43 | Osteomalacia (HP:0002749) | 2.49006870 |
| 44 | Abnormality of DNA repair (HP:0003254) | 2.47824502 |
| 45 | Abnormal platelet volume (HP:0011876) | 2.47482048 |
| 46 | Papillary thyroid carcinoma (HP:0002895) | 2.47105494 |
| 47 | Degeneration of anterior horn cells (HP:0002398) | 2.46570917 |
| 48 | Abnormality of the anterior horn cell (HP:0006802) | 2.46570917 |
| 49 | Increased nuchal translucency (HP:0010880) | 2.43815555 |
| 50 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 2.40587954 |
| 51 | Abnormal auditory evoked potentials (HP:0006958) | 2.40204291 |
| 52 | Shoulder girdle muscle weakness (HP:0003547) | 2.38409083 |
| 53 | Aplasia/Hypoplasia of the macula (HP:0008059) | 2.35413328 |
| 54 | Abnormality of the fovea (HP:0000493) | 2.34033707 |
| 55 | Abnormality of lateral ventricle (HP:0030047) | 2.31001466 |
| 56 | Congenital stationary night blindness (HP:0007642) | 2.27409812 |
| 57 | Abnormal lung lobation (HP:0002101) | 2.27222494 |
| 58 | Broad distal phalanx of finger (HP:0009836) | 2.26717970 |
| 59 | Supernumerary spleens (HP:0009799) | 2.24327295 |
| 60 | Hypoplasia of the fovea (HP:0007750) | 2.23242737 |
| 61 | Aplasia/Hypoplasia of the fovea (HP:0008060) | 2.23242737 |
| 62 | Impaired vibration sensation in the lower limbs (HP:0002166) | 2.22261505 |
| 63 | Wrist flexion contracture (HP:0001239) | 2.21635443 |
| 64 | Facial hemangioma (HP:0000329) | 2.19993222 |
| 65 | Poikilocytosis (HP:0004447) | 2.19457338 |
| 66 | Duodenal stenosis (HP:0100867) | 2.16972718 |
| 67 | Small intestinal stenosis (HP:0012848) | 2.16972718 |
| 68 | Rhinitis (HP:0012384) | 2.16401345 |
| 69 | Central scotoma (HP:0000603) | 2.15001608 |
| 70 | Capillary hemangiomas (HP:0005306) | 2.14894407 |
| 71 | Aplasia/Hypoplasia affecting the retina (HP:0008061) | 2.13450725 |
| 72 | Congenital sensorineural hearing impairment (HP:0008527) | 2.11690727 |
| 73 | Ocular albinism (HP:0001107) | 2.10230601 |
| 74 | Rimmed vacuoles (HP:0003805) | 2.09476403 |
| 75 | Epistaxis (HP:0000421) | 2.08905808 |
| 76 | Renal Fanconi syndrome (HP:0001994) | 2.05519325 |
| 77 | Paralysis (HP:0003470) | 1.94735199 |
| 78 | Conjunctival telangiectasia (HP:0000524) | 1.93551487 |
| 79 | Blue irides (HP:0000635) | 1.92344514 |
| 80 | Microglossia (HP:0000171) | 1.91922619 |
| 81 | Oligodactyly (HP:0012165) | 1.90133637 |
| 82 | Abnormal platelet function (HP:0011869) | 1.87977188 |
| 83 | Impaired platelet aggregation (HP:0003540) | 1.87977188 |
| 84 | Rickets (HP:0002748) | 1.83744376 |
| 85 | Iris hypopigmentation (HP:0007730) | 1.81770987 |
| 86 | Medial flaring of the eyebrow (HP:0010747) | 1.80444857 |
| 87 | Hypoplastic iliac wings (HP:0002866) | 1.79999982 |
| 88 | Lip pit (HP:0100267) | 1.77840434 |
| 89 | Absent thumb (HP:0009777) | 1.76970299 |
| 90 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 1.76093923 |
| 91 | Abnormal protein N-linked glycosylation (HP:0012347) | 1.76093923 |
| 92 | Abnormal protein glycosylation (HP:0012346) | 1.76093923 |
| 93 | Abnormal glycosylation (HP:0012345) | 1.76093923 |
| 94 | Bell-shaped thorax (HP:0001591) | 1.74875566 |
| 95 | Thyroid carcinoma (HP:0002890) | 1.74688729 |
| 96 | Atrophy/Degeneration involving motor neurons (HP:0007373) | 1.74589795 |
| 97 | Respiratory difficulties (HP:0002880) | 1.73770743 |
| 98 | Hyperthyroidism (HP:0000836) | 1.73503008 |
| 99 | Hand muscle atrophy (HP:0009130) | 1.72459254 |
| 100 | Prolonged neonatal jaundice (HP:0006579) | 1.71405914 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK2 | 5.45474876 |
| 2 | PNCK | 4.87749223 |
| 3 | CDK19 | 3.55465672 |
| 4 | ACVR1B | 3.28264995 |
| 5 | MST4 | 3.24179677 |
| 6 | STK16 | 2.42509541 |
| 7 | EIF2AK1 | 2.32158768 |
| 8 | MARK3 | 2.22940202 |
| 9 | NEK9 | 2.21120504 |
| 10 | ARAF | 2.18593971 |
| 11 | PLK4 | 2.17068735 |
| 12 | TTK | 2.09755419 |
| 13 | MAP3K13 | 1.97463929 |
| 14 | PTK2B | 1.93803656 |
| 15 | WEE1 | 1.85288185 |
| 16 | BMX | 1.75985756 |
| 17 | MYLK | 1.74556348 |
| 18 | ZAK | 1.71928199 |
| 19 | BMPR2 | 1.70500425 |
| 20 | PLK2 | 1.68035967 |
| 21 | MET | 1.64391916 |
| 22 | MAPKAPK3 | 1.62238620 |
| 23 | BRAF | 1.56574686 |
| 24 | WNK4 | 1.55110977 |
| 25 | PLK1 | 1.45459940 |
| 26 | MATK | 1.42754144 |
| 27 | MAP3K9 | 1.40529102 |
| 28 | BMPR1B | 1.34343187 |
| 29 | PRKCI | 1.22197865 |
| 30 | KSR2 | 1.17128502 |
| 31 | PINK1 | 1.16660104 |
| 32 | OXSR1 | 1.09790357 |
| 33 | VRK1 | 1.09239699 |
| 34 | AURKA | 1.07628497 |
| 35 | STK3 | 1.06861377 |
| 36 | KSR1 | 1.05529694 |
| 37 | FER | 1.03889529 |
| 38 | AKT3 | 1.01080201 |
| 39 | MAP3K3 | 1.00498712 |
| 40 | WNK3 | 0.93999703 |
| 41 | PAK1 | 0.93914252 |
| 42 | STK38L | 0.93373316 |
| 43 | TLK1 | 0.93331792 |
| 44 | FRK | 0.93187082 |
| 45 | RIPK4 | 0.92760029 |
| 46 | STK38 | 0.89034148 |
| 47 | STK39 | 0.86654961 |
| 48 | RAF1 | 0.80986265 |
| 49 | NEK6 | 0.79463242 |
| 50 | ATR | 0.78390284 |
| 51 | PLK3 | 0.76562750 |
| 52 | WNK1 | 0.76035164 |
| 53 | MAP3K2 | 0.75722040 |
| 54 | PBK | 0.75118964 |
| 55 | CDK7 | 0.72717650 |
| 56 | CHEK1 | 0.72686065 |
| 57 | ATM | 0.71281260 |
| 58 | TAOK3 | 0.68427395 |
| 59 | TESK1 | 0.67036861 |
| 60 | TESK2 | 0.64672633 |
| 61 | NEK2 | 0.64384813 |
| 62 | RET | 0.63291290 |
| 63 | EIF2AK3 | 0.62973942 |
| 64 | BUB1 | 0.62236031 |
| 65 | ILK | 0.60667698 |
| 66 | NUAK1 | 0.60513546 |
| 67 | CDK8 | 0.59299410 |
| 68 | BRSK1 | 0.59026565 |
| 69 | CDK3 | 0.57205829 |
| 70 | FGR | 0.55164177 |
| 71 | PDPK1 | 0.54539766 |
| 72 | MAP3K5 | 0.52563373 |
| 73 | BRSK2 | 0.50831411 |
| 74 | CSF1R | 0.49030933 |
| 75 | PDK1 | 0.48397182 |
| 76 | AKT2 | 0.43354868 |
| 77 | CHEK2 | 0.42609443 |
| 78 | PRKD1 | 0.42579042 |
| 79 | LIMK1 | 0.41337673 |
| 80 | BTK | 0.39266593 |
| 81 | TEC | 0.38566375 |
| 82 | MAPK13 | 0.38262733 |
| 83 | CCNB1 | 0.37858042 |
| 84 | CDK9 | 0.37789590 |
| 85 | PIM1 | 0.37698490 |
| 86 | MAP3K1 | 0.33871547 |
| 87 | LMTK2 | 0.33750559 |
| 88 | CAMK1G | 0.32655158 |
| 89 | MOS | 0.32433065 |
| 90 | RPS6KB1 | 0.31603161 |
| 91 | NEK1 | 0.31435977 |
| 92 | CDC7 | 0.29532916 |
| 93 | CDK1 | 0.27842350 |
| 94 | CSNK2A1 | 0.27320249 |
| 95 | EGFR | 0.26736256 |
| 96 | CDK2 | 0.26656367 |
| 97 | CDK14 | 0.26630729 |
| 98 | MAP2K1 | 0.26290991 |
| 99 | RPS6KB2 | 0.26268571 |
| 100 | TRIM28 | 0.26216162 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Homologous recombination_Homo sapiens_hsa03440 | 3.97788952 |
| 2 | Mismatch repair_Homo sapiens_hsa03430 | 3.94414855 |
| 3 | Non-homologous end-joining_Homo sapiens_hsa03450 | 3.37263125 |
| 4 | Basal transcription factors_Homo sapiens_hsa03022 | 3.16176073 |
| 5 | DNA replication_Homo sapiens_hsa03030 | 2.99224491 |
| 6 | Sulfur relay system_Homo sapiens_hsa04122 | 2.95476442 |
| 7 | Cell cycle_Homo sapiens_hsa04110 | 2.88825317 |
| 8 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 2.85280495 |
| 9 | Oocyte meiosis_Homo sapiens_hsa04114 | 2.70983624 |
| 10 | Nucleotide excision repair_Homo sapiens_hsa03420 | 2.69555014 |
| 11 | RNA transport_Homo sapiens_hsa03013 | 2.47706316 |
| 12 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 2.43761289 |
| 13 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 2.32044330 |
| 14 | Base excision repair_Homo sapiens_hsa03410 | 2.23240993 |
| 15 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 2.13763862 |
| 16 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 2.04782167 |
| 17 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.93878912 |
| 18 | Proteasome_Homo sapiens_hsa03050 | 1.83074632 |
| 19 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 1.80352567 |
| 20 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.66630547 |
| 21 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.66372290 |
| 22 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.62971588 |
| 23 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 1.47833354 |
| 24 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.46690059 |
| 25 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.45850508 |
| 26 | Parkinsons disease_Homo sapiens_hsa05012 | 1.45612697 |
| 27 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 1.38471132 |
| 28 | Huntingtons disease_Homo sapiens_hsa05016 | 1.35548482 |
| 29 | Platelet activation_Homo sapiens_hsa04611 | 1.27606560 |
| 30 | RNA degradation_Homo sapiens_hsa03018 | 1.26377305 |
| 31 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 1.25163387 |
| 32 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.20595934 |
| 33 | p53 signaling pathway_Homo sapiens_hsa04115 | 1.17717480 |
| 34 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.17248962 |
| 35 | Purine metabolism_Homo sapiens_hsa00230 | 1.15378162 |
| 36 | RNA polymerase_Homo sapiens_hsa03020 | 1.08647843 |
| 37 | Tyrosine metabolism_Homo sapiens_hsa00350 | 1.05271102 |
| 38 | Folate biosynthesis_Homo sapiens_hsa00790 | 1.01022631 |
| 39 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.93158522 |
| 40 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.84686685 |
| 41 | Gap junction_Homo sapiens_hsa04540 | 0.81060622 |
| 42 | Olfactory transduction_Homo sapiens_hsa04740 | 0.79281913 |
| 43 | Circadian rhythm_Homo sapiens_hsa04710 | 0.77443516 |
| 44 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.77139956 |
| 45 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 0.75267891 |
| 46 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.75045616 |
| 47 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.74934363 |
| 48 | ABC transporters_Homo sapiens_hsa02010 | 0.74347213 |
| 49 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.72917674 |
| 50 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.71988397 |
| 51 | Thyroid cancer_Homo sapiens_hsa05216 | 0.66464227 |
| 52 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.66396899 |
| 53 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.65677197 |
| 54 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.62732004 |
| 55 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.61481252 |
| 56 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.60361672 |
| 57 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.59892305 |
| 58 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.59095613 |
| 59 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.53306900 |
| 60 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.53123827 |
| 61 | Spliceosome_Homo sapiens_hsa03040 | 0.52705231 |
| 62 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 0.52335348 |
| 63 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.51652332 |
| 64 | Endocytosis_Homo sapiens_hsa04144 | 0.50496236 |
| 65 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.49316458 |
| 66 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.48539711 |
| 67 | Metabolic pathways_Homo sapiens_hsa01100 | 0.48486008 |
| 68 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.48019603 |
| 69 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.46775667 |
| 70 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.46686632 |
| 71 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.44787056 |
| 72 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.42920869 |
| 73 | Shigellosis_Homo sapiens_hsa05131 | 0.40745113 |
| 74 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.40236400 |
| 75 | Protein export_Homo sapiens_hsa03060 | 0.40059728 |
| 76 | Apoptosis_Homo sapiens_hsa04210 | 0.38436516 |
| 77 | Small cell lung cancer_Homo sapiens_hsa05222 | 0.38056586 |
| 78 | Alcoholism_Homo sapiens_hsa05034 | 0.37670753 |
| 79 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.36426016 |
| 80 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.35916146 |
| 81 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.34863985 |
| 82 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.33036239 |
| 83 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 0.32011297 |
| 84 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.31606952 |
| 85 | Phagosome_Homo sapiens_hsa04145 | 0.29751409 |
| 86 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 0.29307360 |
| 87 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.29244327 |
| 88 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.25076160 |
| 89 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.24505131 |
| 90 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.23686189 |
| 91 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.23072243 |
| 92 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.20288366 |
| 93 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.20151341 |
| 94 | Lysosome_Homo sapiens_hsa04142 | 0.19892369 |
| 95 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.19784861 |
| 96 | Retinol metabolism_Homo sapiens_hsa00830 | 0.19750064 |
| 97 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.19565575 |
| 98 | Phototransduction_Homo sapiens_hsa04744 | 0.17516662 |
| 99 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.16647540 |
| 100 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.15234818 |

