

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | male meiosis (GO:0007140) | 9.22986085 |
| 2 | synapsis (GO:0007129) | 8.15190030 |
| 3 | piRNA metabolic process (GO:0034587) | 8.09649858 |
| 4 | acrosome reaction (GO:0007340) | 7.91547448 |
| 5 | sperm motility (GO:0030317) | 7.76466767 |
| 6 | binding of sperm to zona pellucida (GO:0007339) | 7.38564854 |
| 7 | multicellular organism reproduction (GO:0032504) | 7.03391721 |
| 8 | fusion of sperm to egg plasma membrane (GO:0007342) | 7.02286921 |
| 9 | DNA methylation involved in gamete generation (GO:0043046) | 6.81485279 |
| 10 | spermatid development (GO:0007286) | 6.59808593 |
| 11 | sperm-egg recognition (GO:0035036) | 6.47538506 |
| 12 | chromosome organization involved in meiosis (GO:0070192) | 6.29999374 |
| 13 | synaptonemal complex assembly (GO:0007130) | 5.68972877 |
| 14 | male meiosis I (GO:0007141) | 5.56985628 |
| 15 | polyamine biosynthetic process (GO:0006596) | 5.55872304 |
| 16 | reproduction (GO:0000003) | 5.54942152 |
| 17 | meiotic nuclear division (GO:0007126) | 5.52304590 |
| 18 | plasma membrane fusion (GO:0045026) | 5.30920570 |
| 19 | meiosis I (GO:0007127) | 5.26917249 |
| 20 | cell-cell recognition (GO:0009988) | 5.22506630 |
| 21 | synaptonemal complex organization (GO:0070193) | 5.20077517 |
| 22 | regulation of oxidative phosphorylation (GO:0002082) | 5.15819043 |
| 23 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 5.10239289 |
| 24 | relaxation of smooth muscle (GO:0044557) | 5.09239508 |
| 25 | regulation of meiosis I (GO:0060631) | 4.94827063 |
| 26 | spermatid nucleus differentiation (GO:0007289) | 4.93299888 |
| 27 | motile cilium assembly (GO:0044458) | 4.92085865 |
| 28 | single fertilization (GO:0007338) | 4.63868582 |
| 29 | rRNA methylation (GO:0031167) | 4.44944680 |
| 30 | axonemal dynein complex assembly (GO:0070286) | 4.43142796 |
| 31 | histone exchange (GO:0043486) | 4.39691650 |
| 32 | germ cell development (GO:0007281) | 4.34868593 |
| 33 | fertilization (GO:0009566) | 4.27835983 |
| 34 | regulation of histone H3-K9 methylation (GO:0051570) | 4.19638796 |
| 35 | calcium ion-dependent exocytosis (GO:0017156) | 4.17861651 |
| 36 | sperm capacitation (GO:0048240) | 4.17454828 |
| 37 | microtubule depolymerization (GO:0007019) | 4.17372280 |
| 38 | spermatogenesis (GO:0007283) | 4.15570716 |
| 39 | potassium ion export (GO:0071435) | 4.15420808 |
| 40 | male gamete generation (GO:0048232) | 4.14374179 |
| 41 | DNA packaging (GO:0006323) | 4.12750520 |
| 42 | DNA synthesis involved in DNA repair (GO:0000731) | 4.12638047 |
| 43 | rRNA modification (GO:0000154) | 4.02697893 |
| 44 | positive regulation of catecholamine secretion (GO:0033605) | 4.01783101 |
| 45 | chromosome condensation (GO:0030261) | 4.00667998 |
| 46 | meiotic cell cycle process (GO:1903046) | 3.95690180 |
| 47 | gamete generation (GO:0007276) | 3.91322178 |
| 48 | cellular biogenic amine biosynthetic process (GO:0042401) | 3.91180473 |
| 49 | single strand break repair (GO:0000012) | 3.89568770 |
| 50 | response to acidic pH (GO:0010447) | 3.85239566 |
| 51 | centriole replication (GO:0007099) | 3.83957594 |
| 52 | regulation of cilium movement (GO:0003352) | 3.77619257 |
| 53 | amine biosynthetic process (GO:0009309) | 3.76629696 |
| 54 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.76171621 |
| 55 | cilium or flagellum-dependent cell motility (GO:0001539) | 3.75728896 |
| 56 | protein neddylation (GO:0045116) | 3.75598182 |
| 57 | centriole assembly (GO:0098534) | 3.71937223 |
| 58 | meiotic cell cycle (GO:0051321) | 3.66790457 |
| 59 | epithelial cilium movement (GO:0003351) | 3.66465272 |
| 60 | cellular ketone body metabolic process (GO:0046950) | 3.65836556 |
| 61 | negative regulation of histone methylation (GO:0031061) | 3.65775315 |
| 62 | female gamete generation (GO:0007292) | 3.52937484 |
| 63 | negative regulation of inclusion body assembly (GO:0090084) | 3.49147703 |
| 64 | ketone body metabolic process (GO:1902224) | 3.48953658 |
| 65 | organic cation transport (GO:0015695) | 3.46557640 |
| 66 | histone H3-K9 demethylation (GO:0033169) | 3.46253612 |
| 67 | polyamine metabolic process (GO:0006595) | 3.35668809 |
| 68 | regulation of cellular respiration (GO:0043457) | 3.30593780 |
| 69 | protein-DNA complex disassembly (GO:0032986) | 3.27067995 |
| 70 | nucleosome disassembly (GO:0006337) | 3.27067995 |
| 71 | proteasome assembly (GO:0043248) | 3.25299193 |
| 72 | coenzyme catabolic process (GO:0009109) | 3.24644596 |
| 73 | positive regulation of endothelial cell differentiation (GO:0045603) | 3.24524755 |
| 74 | poly(A)+ mRNA export from nucleus (GO:0016973) | 3.23344758 |
| 75 | positive regulation of synaptic transmission, dopaminergic (GO:0032226) | 3.18339143 |
| 76 | multicellular organismal reproductive process (GO:0048609) | 3.10515885 |
| 77 | gene silencing by RNA (GO:0031047) | 3.09689661 |
| 78 | protein polymerization (GO:0051258) | 3.09272749 |
| 79 | cellular response to pH (GO:0071467) | 3.05083888 |
| 80 | microtubule polymerization or depolymerization (GO:0031109) | 3.03187033 |
| 81 | melanin biosynthetic process (GO:0042438) | 3.02549638 |
| 82 | oogenesis (GO:0048477) | 2.99545477 |
| 83 | thrombin receptor signaling pathway (GO:0070493) | 2.98109824 |
| 84 | cilium movement (GO:0003341) | 2.97494665 |
| 85 | acrosome assembly (GO:0001675) | 2.97308019 |
| 86 | regulation of female gonad development (GO:2000194) | 2.94993366 |
| 87 | regulation of DNA methylation (GO:0044030) | 2.94030435 |
| 88 | xenobiotic catabolic process (GO:0042178) | 2.90026383 |
| 89 | resolution of meiotic recombination intermediates (GO:0000712) | 2.82279789 |
| 90 | erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221) | 2.77806490 |
| 91 | L-phenylalanine metabolic process (GO:0006558) | 2.77806490 |
| 92 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.73399933 |
| 93 | regulation of acrosome reaction (GO:0060046) | 2.72563212 |
| 94 | negative regulation of cardiac muscle cell apoptotic process (GO:0010667) | 2.72365348 |
| 95 | regulation of oxidative stress-induced neuron death (GO:1903203) | 2.71281740 |
| 96 | L-phenylalanine catabolic process (GO:0006559) | 2.69985817 |
| 97 | erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222) | 2.69985817 |
| 98 | oocyte development (GO:0048599) | 2.63330114 |
| 99 | positive regulation of glycolytic process (GO:0045821) | 2.63292732 |
| 100 | negative regulation of hydrogen peroxide-induced cell death (GO:1903206) | 2.62378831 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 5.65691949 |
| 2 | EZH2_22144423_ChIP-Seq_EOC_Human | 5.35218699 |
| 3 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 4.10763232 |
| 4 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 3.24884531 |
| 5 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.89787599 |
| 6 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 2.63856991 |
| 7 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.35574246 |
| 8 | IRF1_19129219_ChIP-ChIP_H3396_Human | 2.34459400 |
| 9 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 2.28693181 |
| 10 | NANOG_20526341_ChIP-Seq_ESCs_Human | 2.15264056 |
| 11 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.14100479 |
| 12 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.98513652 |
| 13 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.94589625 |
| 14 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.88332242 |
| 15 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 1.85456352 |
| 16 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.83834874 |
| 17 | FUS_26573619_Chip-Seq_HEK293_Human | 1.82625848 |
| 18 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.79715024 |
| 19 | ERA_21632823_ChIP-Seq_H3396_Human | 1.78516688 |
| 20 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.78501795 |
| 21 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.76805317 |
| 22 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.69779714 |
| 23 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.69779714 |
| 24 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.63713174 |
| 25 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 1.58061087 |
| 26 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.56874427 |
| 27 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.53402831 |
| 28 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.52561306 |
| 29 | TBL1_22424771_ChIP-Seq_293T_Human | 1.47699361 |
| 30 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.47538773 |
| 31 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.43941317 |
| 32 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.42131493 |
| 33 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.41866512 |
| 34 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.41866512 |
| 35 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.41149518 |
| 36 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.40551586 |
| 37 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.39412543 |
| 38 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 1.37583603 |
| 39 | SPI1_20517297_ChIP-Seq_HL60_Human | 1.34336523 |
| 40 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.34330226 |
| 41 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.34087204 |
| 42 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.33795725 |
| 43 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.33399966 |
| 44 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.31489024 |
| 45 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.31489024 |
| 46 | VDR_22108803_ChIP-Seq_LS180_Human | 1.30793517 |
| 47 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.28918285 |
| 48 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.28426143 |
| 49 | NFYB_21822215_ChIP-Seq_K562_Human | 1.27813828 |
| 50 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 1.27628962 |
| 51 | AR_25329375_ChIP-Seq_VCAP_Human | 1.27404648 |
| 52 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.23058704 |
| 53 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.22182554 |
| 54 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 1.21624994 |
| 55 | STAT1_20625510_ChIP-Seq_HELA_Human | 1.21363312 |
| 56 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.20906020 |
| 57 | P300_27268052_Chip-Seq_Bcells_Human | 1.20839161 |
| 58 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.20741077 |
| 59 | SALL4_22934838_ChIP-ChIP_CD34+_Human | 1.20525136 |
| 60 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.19298205 |
| 61 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.17862392 |
| 62 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.16113464 |
| 63 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.15877795 |
| 64 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 1.15590442 |
| 65 | LYL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.15286731 |
| 66 | GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.14974451 |
| 67 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.14729138 |
| 68 | NFYA_21822215_ChIP-Seq_K562_Human | 1.14396035 |
| 69 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.13159609 |
| 70 | GATA2_19941826_ChIP-Seq_K562_Human | 1.12627042 |
| 71 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.11862212 |
| 72 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.11325808 |
| 73 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.10679730 |
| 74 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.10487159 |
| 75 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.10335409 |
| 76 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.09744871 |
| 77 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.09080843 |
| 78 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.08650943 |
| 79 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.08232305 |
| 80 | SCL_19346495_ChIP-Seq_HPC-7_Human | 1.06962589 |
| 81 | P68_20966046_ChIP-Seq_HELA_Human | 1.06324705 |
| 82 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.06211429 |
| 83 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.05766794 |
| 84 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.05744083 |
| 85 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 1.05404826 |
| 86 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 1.05112225 |
| 87 | HTT_18923047_ChIP-ChIP_STHdh_Human | 1.04132233 |
| 88 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.03984281 |
| 89 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 1.03518620 |
| 90 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.02405286 |
| 91 | P300_19829295_ChIP-Seq_ESCs_Human | 1.01274161 |
| 92 | GATA1_19941826_ChIP-Seq_K562_Human | 1.01012834 |
| 93 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.99523522 |
| 94 | PHF8_20622854_ChIP-Seq_HELA_Human | 0.99010327 |
| 95 | MYC_18940864_ChIP-ChIP_HL60_Human | 0.98510282 |
| 96 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 0.97873699 |
| 97 | TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.97480535 |
| 98 | TAF15_26573619_Chip-Seq_HEK293_Human | 0.97212232 |
| 99 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 0.97020389 |
| 100 | E2F7_22180533_ChIP-Seq_HELA_Human | 0.96039303 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 7.47979820 |
| 2 | MP0000372_irregular_coat_pigmentation | 6.51543985 |
| 3 | MP0008004_abnormal_stomach_pH | 5.05218209 |
| 4 | MP0003136_yellow_coat_color | 4.61608674 |
| 5 | MP0003718_maternal_effect | 4.08677168 |
| 6 | MP0008877_abnormal_DNA_methylation | 3.43426617 |
| 7 | MP0002132_abnormal_respiratory_system | 3.22559270 |
| 8 | MP0001929_abnormal_gametogenesis | 3.19929020 |
| 9 | MP0003698_abnormal_male_reproductive | 3.14256793 |
| 10 | MP0005464_abnormal_platelet_physiology | 3.05443681 |
| 11 | MP0005360_urolithiasis | 2.74823425 |
| 12 | MP0005174_abnormal_tail_pigmentation | 2.63026076 |
| 13 | MP0002210_abnormal_sex_determination | 2.37668252 |
| 14 | MP0002160_abnormal_reproductive_system | 2.30322753 |
| 15 | MP0005058_abnormal_lysosome_morphology | 2.20719891 |
| 16 | MP0008058_abnormal_DNA_repair | 1.94735901 |
| 17 | MP0003315_abnormal_perineum_morphology | 1.89578894 |
| 18 | MP0002161_abnormal_fertility/fecundity | 1.89331965 |
| 19 | MP0000015_abnormal_ear_pigmentation | 1.88900310 |
| 20 | MP0000653_abnormal_sex_gland | 1.83029611 |
| 21 | MP0001145_abnormal_male_reproductive | 1.78457540 |
| 22 | MP0004381_abnormal_hair_follicle | 1.66768417 |
| 23 | MP0009697_abnormal_copulation | 1.63432816 |
| 24 | MP0005394_taste/olfaction_phenotype | 1.62723781 |
| 25 | MP0005499_abnormal_olfactory_system | 1.62723781 |
| 26 | MP0005395_other_phenotype | 1.62356178 |
| 27 | MP0005187_abnormal_penis_morphology | 1.61872576 |
| 28 | MP0003693_abnormal_embryo_hatching | 1.57684040 |
| 29 | MP0008789_abnormal_olfactory_epithelium | 1.51784479 |
| 30 | MP0003879_abnormal_hair_cell | 1.41549705 |
| 31 | MP0002095_abnormal_skin_pigmentation | 1.39892896 |
| 32 | MP0006036_abnormal_mitochondrial_physio | 1.36735342 |
| 33 | MP0000678_abnormal_parathyroid_gland | 1.31823769 |
| 34 | MP0001664_abnormal_digestion | 1.31698223 |
| 35 | MP0005389_reproductive_system_phenotype | 1.27318364 |
| 36 | MP0005647_abnormal_sex_gland | 1.25868219 |
| 37 | MP0005646_abnormal_pituitary_gland | 1.22957382 |
| 38 | MP0004147_increased_porphyrin_level | 1.19612670 |
| 39 | MP0005171_absent_coat_pigmentation | 1.16016144 |
| 40 | MP0005084_abnormal_gallbladder_morpholo | 1.12869278 |
| 41 | MP0008932_abnormal_embryonic_tissue | 1.09435334 |
| 42 | MP0001984_abnormal_olfaction | 1.07290559 |
| 43 | MP0003077_abnormal_cell_cycle | 1.05896717 |
| 44 | MP0003699_abnormal_female_reproductive | 1.05710135 |
| 45 | MP0010234_abnormal_vibrissa_follicle | 1.05065548 |
| 46 | MP0006292_abnormal_olfactory_placode | 1.00724309 |
| 47 | MP0005423_abnormal_somatic_nervous | 0.98734521 |
| 48 | MP0008057_abnormal_DNA_replication | 0.96959788 |
| 49 | MP0005408_hypopigmentation | 0.95645295 |
| 50 | MP0010094_abnormal_chromosome_stability | 0.95052542 |
| 51 | MP0001905_abnormal_dopamine_level | 0.93988929 |
| 52 | MP0001188_hyperpigmentation | 0.92073435 |
| 53 | MP0002090_abnormal_vision | 0.90507546 |
| 54 | MP0010368_abnormal_lymphatic_system | 0.89451027 |
| 55 | MP0004019_abnormal_vitamin_homeostasis | 0.88973500 |
| 56 | MP0000465_gastrointestinal_hemorrhage | 0.87719794 |
| 57 | MP0001119_abnormal_female_reproductive | 0.84383799 |
| 58 | MP0010386_abnormal_urinary_bladder | 0.83677569 |
| 59 | MP0000230_abnormal_systemic_arterial | 0.80971721 |
| 60 | MP0005075_abnormal_melanosome_morpholog | 0.79680208 |
| 61 | MP0004036_abnormal_muscle_relaxation | 0.78923867 |
| 62 | MP0003111_abnormal_nucleus_morphology | 0.78069865 |
| 63 | MP0001730_embryonic_growth_arrest | 0.74845074 |
| 64 | MP0002877_abnormal_melanocyte_morpholog | 0.73685845 |
| 65 | MP0004957_abnormal_blastocyst_morpholog | 0.73351759 |
| 66 | MP0001661_extended_life_span | 0.73020257 |
| 67 | MP0004215_abnormal_myocardial_fiber | 0.72560339 |
| 68 | MP0001879_abnormal_lymphatic_vessel | 0.71724235 |
| 69 | MP0002938_white_spotting | 0.71142641 |
| 70 | MP0004085_abnormal_heartbeat | 0.69266986 |
| 71 | MP0001968_abnormal_touch/_nociception | 0.69132898 |
| 72 | MP0003186_abnormal_redox_activity | 0.68344429 |
| 73 | MP0000343_altered_response_to | 0.67678281 |
| 74 | MP0004084_abnormal_cardiac_muscle | 0.66120082 |
| 75 | MP0003045_fibrosis | 0.65923941 |
| 76 | MP0008995_early_reproductive_senescence | 0.63449569 |
| 77 | MP0001666_abnormal_nutrient_absorption | 0.62650421 |
| 78 | MP0000358_abnormal_cell_content/ | 0.61905280 |
| 79 | MP0001765_abnormal_ion_homeostasis | 0.61805654 |
| 80 | MP0003806_abnormal_nucleotide_metabolis | 0.57139417 |
| 81 | MP0005670_abnormal_white_adipose | 0.56129027 |
| 82 | MP0010678_abnormal_skin_adnexa | 0.55850302 |
| 83 | MP0006276_abnormal_autonomic_nervous | 0.55274574 |
| 84 | MP0002102_abnormal_ear_morphology | 0.54159433 |
| 85 | MP0008775_abnormal_heart_ventricle | 0.53645530 |
| 86 | MP0005551_abnormal_eye_electrophysiolog | 0.53506075 |
| 87 | MP0005379_endocrine/exocrine_gland_phen | 0.53192257 |
| 88 | MP0008260_abnormal_autophagy | 0.51592079 |
| 89 | MP0002139_abnormal_hepatobiliary_system | 0.51560553 |
| 90 | MP0000631_abnormal_neuroendocrine_gland | 0.51019277 |
| 91 | MP0000383_abnormal_hair_follicle | 0.50553632 |
| 92 | MP0003638_abnormal_response/metabolism_ | 0.49955435 |
| 93 | MP0008872_abnormal_physiological_respon | 0.48964294 |
| 94 | MP0002736_abnormal_nociception_after | 0.46896771 |
| 95 | MP0002163_abnormal_gland_morphology | 0.46511603 |
| 96 | MP0002272_abnormal_nervous_system | 0.46484763 |
| 97 | MP0001545_abnormal_hematopoietic_system | 0.46091844 |
| 98 | MP0005397_hematopoietic_system_phenotyp | 0.46091844 |
| 99 | MP0002735_abnormal_chemical_nociception | 0.44236742 |
| 100 | MP0006035_abnormal_mitochondrial_morpho | 0.43774042 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Prolonged bleeding time (HP:0003010) | 5.23788523 |
| 2 | Infertility (HP:0000789) | 5.20927002 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.04876192 |
| 4 | Absent/shortened dynein arms (HP:0200106) | 5.04876192 |
| 5 | Abnormal ciliary motility (HP:0012262) | 4.82676914 |
| 6 | Menorrhagia (HP:0000132) | 4.77608319 |
| 7 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.47716726 |
| 8 | Male infertility (HP:0003251) | 4.45110986 |
| 9 | Petechiae (HP:0000967) | 4.39832406 |
| 10 | Hypoplasia of the uterus (HP:0000013) | 4.11624265 |
| 11 | Resting tremor (HP:0002322) | 4.07304589 |
| 12 | Abnormal spermatogenesis (HP:0008669) | 4.00081195 |
| 13 | Azoospermia (HP:0000027) | 3.98781278 |
| 14 | Increased mean platelet volume (HP:0011877) | 3.91090858 |
| 15 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.82717135 |
| 16 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.82717135 |
| 17 | Abnormality of lateral ventricle (HP:0030047) | 3.75722165 |
| 18 | Ventricular fibrillation (HP:0001663) | 3.75049073 |
| 19 | Purpura (HP:0000979) | 3.57540281 |
| 20 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.54991352 |
| 21 | Generalized aminoaciduria (HP:0002909) | 3.49353146 |
| 22 | Abnormal platelet volume (HP:0011876) | 3.43798999 |
| 23 | Gonadal dysgenesis (HP:0000133) | 3.35717080 |
| 24 | Hypophosphatemic rickets (HP:0004912) | 3.29570719 |
| 25 | Aplasia/hypoplasia of the uterus (HP:0008684) | 3.13022118 |
| 26 | Congenital sensorineural hearing impairment (HP:0008527) | 3.06064442 |
| 27 | Facial hemangioma (HP:0000329) | 2.91435584 |
| 28 | Hyperthyroidism (HP:0000836) | 2.84236928 |
| 29 | Epistaxis (HP:0000421) | 2.83055601 |
| 30 | Abnormality of aromatic amino acid family metabolism (HP:0004338) | 2.82535927 |
| 31 | Aplasia/Hypoplasia of the fovea (HP:0008060) | 2.74937662 |
| 32 | Hypoplasia of the fovea (HP:0007750) | 2.74937662 |
| 33 | Hyperlipoproteinemia (HP:0010980) | 2.71170077 |
| 34 | Tubulointerstitial nephritis (HP:0001970) | 2.62978015 |
| 35 | Rhinitis (HP:0012384) | 2.60230575 |
| 36 | Papillary thyroid carcinoma (HP:0002895) | 2.55800924 |
| 37 | Reduced antithrombin III activity (HP:0001976) | 2.49698537 |
| 38 | Male pseudohermaphroditism (HP:0000037) | 2.47050148 |
| 39 | Severe visual impairment (HP:0001141) | 2.45454928 |
| 40 | Abnormality of the fovea (HP:0000493) | 2.42698643 |
| 41 | Sex reversal (HP:0012245) | 2.42243600 |
| 42 | Abnormal sex determination (HP:0012244) | 2.42243600 |
| 43 | Self-mutilation (HP:0000742) | 2.40405053 |
| 44 | White forelock (HP:0002211) | 2.34291425 |
| 45 | Abnormal auditory evoked potentials (HP:0006958) | 2.31905427 |
| 46 | Acanthocytosis (HP:0001927) | 2.30785177 |
| 47 | Poikilocytosis (HP:0004447) | 2.26622699 |
| 48 | Median cleft lip (HP:0000161) | 2.25330554 |
| 49 | Impaired platelet aggregation (HP:0003540) | 2.24391525 |
| 50 | Abnormal platelet function (HP:0011869) | 2.24391525 |
| 51 | Postural instability (HP:0002172) | 2.23112153 |
| 52 | Bony spicule pigmentary retinopathy (HP:0007737) | 2.20909927 |
| 53 | Patchy hypopigmentation of hair (HP:0011365) | 2.20718128 |
| 54 | Cholecystitis (HP:0001082) | 2.19118042 |
| 55 | Abnormal gallbladder physiology (HP:0012438) | 2.19118042 |
| 56 | Thyroid carcinoma (HP:0002890) | 2.17334378 |
| 57 | Aplasia/Hypoplasia of the macula (HP:0008059) | 2.15160261 |
| 58 | Retinal atrophy (HP:0001105) | 2.10865743 |
| 59 | Osteomalacia (HP:0002749) | 2.09609986 |
| 60 | Gonadotropin excess (HP:0000837) | 2.07816291 |
| 61 | Renal Fanconi syndrome (HP:0001994) | 2.07582084 |
| 62 | Attenuation of retinal blood vessels (HP:0007843) | 2.02591680 |
| 63 | Paralysis (HP:0003470) | 2.00906736 |
| 64 | Nasal polyposis (HP:0100582) | 2.00703673 |
| 65 | Anhidrosis (HP:0000970) | 2.00329468 |
| 66 | Type II lissencephaly (HP:0007260) | 1.99933534 |
| 67 | Upper limb muscle weakness (HP:0003484) | 1.98996246 |
| 68 | Aplasia/Hypoplasia affecting the retina (HP:0008061) | 1.94651634 |
| 69 | Conjunctival telangiectasia (HP:0000524) | 1.90713841 |
| 70 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 1.89425964 |
| 71 | Spontaneous abortion (HP:0005268) | 1.89084300 |
| 72 | Truncus arteriosus (HP:0001660) | 1.87805269 |
| 73 | Gingival bleeding (HP:0000225) | 1.83779766 |
| 74 | Absent thumb (HP:0009777) | 1.83379754 |
| 75 | Rickets (HP:0002748) | 1.83197771 |
| 76 | Sensory axonal neuropathy (HP:0003390) | 1.82812346 |
| 77 | Anterior segment dysgenesis (HP:0007700) | 1.82444236 |
| 78 | Aplastic anemia (HP:0001915) | 1.81045710 |
| 79 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 1.78290578 |
| 80 | Rhabdomyolysis (HP:0003201) | 1.77551932 |
| 81 | Abnormality of the heme biosynthetic pathway (HP:0010472) | 1.77421803 |
| 82 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 1.77342415 |
| 83 | Capillary hemangiomas (HP:0005306) | 1.77183021 |
| 84 | Impulsivity (HP:0100710) | 1.77100730 |
| 85 | Abnormality of the columella (HP:0009929) | 1.75666485 |
| 86 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 1.72976444 |
| 87 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 1.72976444 |
| 88 | Long clavicles (HP:0000890) | 1.72523753 |
| 89 | Biliary tract neoplasm (HP:0100574) | 1.71797962 |
| 90 | Retinal dysplasia (HP:0007973) | 1.70604280 |
| 91 | Chromsome breakage (HP:0040012) | 1.69404398 |
| 92 | Hypoplastic ischia (HP:0003175) | 1.68026966 |
| 93 | Syncope (HP:0001279) | 1.66684165 |
| 94 | Dyschromatopsia (HP:0007641) | 1.66365043 |
| 95 | Wrist flexion contracture (HP:0001239) | 1.65476323 |
| 96 | Cerebral hypomyelination (HP:0006808) | 1.64282129 |
| 97 | Abnormal large intestine physiology (HP:0012700) | 1.63338477 |
| 98 | Abnormality of the preputium (HP:0100587) | 1.62305525 |
| 99 | Ileus (HP:0002595) | 1.60937743 |
| 100 | Tinnitus (HP:0000360) | 1.60673968 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PINK1 | 6.39848354 |
| 2 | MARK3 | 4.55800796 |
| 3 | MYLK | 3.88017517 |
| 4 | ZAK | 3.50640663 |
| 5 | STK16 | 3.08856924 |
| 6 | ARAF | 2.65903052 |
| 7 | EIF2AK1 | 2.59661240 |
| 8 | TLK1 | 2.41409679 |
| 9 | MST4 | 2.37797674 |
| 10 | PLK4 | 2.29872466 |
| 11 | MAP3K9 | 2.08189018 |
| 12 | BMPR1B | 2.04449060 |
| 13 | MATK | 1.87340048 |
| 14 | EIF2AK3 | 1.82153012 |
| 15 | PTK2B | 1.72714796 |
| 16 | PLK2 | 1.63248156 |
| 17 | ILK | 1.58313719 |
| 18 | NEK2 | 1.57006524 |
| 19 | RIPK4 | 1.56648860 |
| 20 | CDK3 | 1.55776985 |
| 21 | BMX | 1.53913291 |
| 22 | MAP4K2 | 1.51119783 |
| 23 | PNCK | 1.48510234 |
| 24 | RPS6KA5 | 1.45836780 |
| 25 | BRAF | 1.39609089 |
| 26 | PAK1 | 1.34603674 |
| 27 | KSR2 | 1.34501164 |
| 28 | MAP3K13 | 1.29551926 |
| 29 | MAPKAPK3 | 1.27582321 |
| 30 | TESK1 | 1.19479961 |
| 31 | AURKA | 1.16766402 |
| 32 | STK3 | 1.15939900 |
| 33 | STK38 | 1.15445384 |
| 34 | LATS1 | 1.04525752 |
| 35 | TTK | 1.00559781 |
| 36 | BMPR2 | 0.99509782 |
| 37 | PKN1 | 0.98592738 |
| 38 | CDK7 | 0.92605783 |
| 39 | LATS2 | 0.91549279 |
| 40 | RAF1 | 0.88289642 |
| 41 | PIK3CG | 0.88108085 |
| 42 | STK38L | 0.87821937 |
| 43 | MET | 0.84031811 |
| 44 | NEK6 | 0.80640234 |
| 45 | VRK1 | 0.78429142 |
| 46 | PLK1 | 0.75244444 |
| 47 | FRK | 0.72095869 |
| 48 | TESK2 | 0.69871594 |
| 49 | PDPK1 | 0.69554028 |
| 50 | BTK | 0.66410685 |
| 51 | TAOK3 | 0.65681868 |
| 52 | PBK | 0.64703096 |
| 53 | PRKG1 | 0.63037058 |
| 54 | CDC7 | 0.62400823 |
| 55 | PDK1 | 0.62173371 |
| 56 | WEE1 | 0.61044764 |
| 57 | TEC | 0.60410693 |
| 58 | DDR2 | 0.59848234 |
| 59 | GRK5 | 0.59751180 |
| 60 | CDK14 | 0.59459031 |
| 61 | PLK3 | 0.58251368 |
| 62 | FGR | 0.57856883 |
| 63 | MOS | 0.56085731 |
| 64 | CDK9 | 0.54335916 |
| 65 | WNK1 | 0.53417895 |
| 66 | DAPK3 | 0.51306081 |
| 67 | PDK2 | 0.50509092 |
| 68 | PAK2 | 0.50261929 |
| 69 | TNIK | 0.50037282 |
| 70 | BRSK2 | 0.46609874 |
| 71 | AKT2 | 0.45751642 |
| 72 | PIM1 | 0.44726790 |
| 73 | CDK8 | 0.39775322 |
| 74 | MAP3K5 | 0.39724514 |
| 75 | STK4 | 0.39660190 |
| 76 | MST1R | 0.39543202 |
| 77 | ROCK1 | 0.38293739 |
| 78 | CDK12 | 0.38145381 |
| 79 | ADRBK2 | 0.37669233 |
| 80 | NUAK1 | 0.37638123 |
| 81 | ATM | 0.36904681 |
| 82 | MAP3K12 | 0.36481479 |
| 83 | NTRK1 | 0.36048349 |
| 84 | CSNK1G3 | 0.35572574 |
| 85 | INSRR | 0.34896449 |
| 86 | AKT3 | 0.34599283 |
| 87 | PRKCQ | 0.34335237 |
| 88 | BRSK1 | 0.32682872 |
| 89 | MAP3K8 | 0.32523710 |
| 90 | CHEK1 | 0.32106783 |
| 91 | WNK4 | 0.31960166 |
| 92 | GRK6 | 0.31772585 |
| 93 | PRKACB | 0.31698233 |
| 94 | STK24 | 0.31413848 |
| 95 | KSR1 | 0.30232417 |
| 96 | CSNK1G1 | 0.30197794 |
| 97 | RET | 0.30189008 |
| 98 | MAPK13 | 0.26511142 |
| 99 | CHEK2 | 0.25209429 |
| 100 | MAP3K1 | 0.24812867 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 5.70812599 |
| 2 | Gap junction_Homo sapiens_hsa04540 | 3.42966154 |
| 3 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 3.30696802 |
| 4 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 2.84392991 |
| 5 | Basal transcription factors_Homo sapiens_hsa03022 | 2.77838789 |
| 6 | Mismatch repair_Homo sapiens_hsa03430 | 2.75302824 |
| 7 | Olfactory transduction_Homo sapiens_hsa04740 | 2.42698672 |
| 8 | Nitrogen metabolism_Homo sapiens_hsa00910 | 2.27932448 |
| 9 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.27399613 |
| 10 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 2.09887278 |
| 11 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.98055943 |
| 12 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.83733312 |
| 13 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 1.79961884 |
| 14 | RNA transport_Homo sapiens_hsa03013 | 1.77645667 |
| 15 | Alcoholism_Homo sapiens_hsa05034 | 1.74040394 |
| 16 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.65533870 |
| 17 | Apoptosis_Homo sapiens_hsa04210 | 1.63347843 |
| 18 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.62079330 |
| 19 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.58854596 |
| 20 | DNA replication_Homo sapiens_hsa03030 | 1.55453999 |
| 21 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.54035551 |
| 22 | Phagosome_Homo sapiens_hsa04145 | 1.52022475 |
| 23 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.48521563 |
| 24 | Platelet activation_Homo sapiens_hsa04611 | 1.48476986 |
| 25 | Cell cycle_Homo sapiens_hsa04110 | 1.37674195 |
| 26 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.36582421 |
| 27 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.36258514 |
| 28 | Parkinsons disease_Homo sapiens_hsa05012 | 1.33417616 |
| 29 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.32875771 |
| 30 | Purine metabolism_Homo sapiens_hsa00230 | 1.24742409 |
| 31 | Homologous recombination_Homo sapiens_hsa03440 | 1.24116385 |
| 32 | RNA degradation_Homo sapiens_hsa03018 | 1.23523892 |
| 33 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.22996014 |
| 34 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.19902980 |
| 35 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.15992723 |
| 36 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 1.14921948 |
| 37 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 1.14003746 |
| 38 | Tyrosine metabolism_Homo sapiens_hsa00350 | 1.11942400 |
| 39 | RNA polymerase_Homo sapiens_hsa03020 | 1.10427758 |
| 40 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.08663266 |
| 41 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 1.04793228 |
| 42 | Huntingtons disease_Homo sapiens_hsa05016 | 1.04375069 |
| 43 | Base excision repair_Homo sapiens_hsa03410 | 0.99579717 |
| 44 | Sulfur relay system_Homo sapiens_hsa04122 | 0.99485516 |
| 45 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.94108291 |
| 46 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.92804417 |
| 47 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.90341177 |
| 48 | Proteasome_Homo sapiens_hsa03050 | 0.88561746 |
| 49 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.87881302 |
| 50 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.87312155 |
| 51 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.86860621 |
| 52 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 0.85539240 |
| 53 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.85048603 |
| 54 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.84359640 |
| 55 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.83533515 |
| 56 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.72254080 |
| 57 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.71806372 |
| 58 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.70330531 |
| 59 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.69230714 |
| 60 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.67699542 |
| 61 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.65855352 |
| 62 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.65374392 |
| 63 | Circadian rhythm_Homo sapiens_hsa04710 | 0.65300173 |
| 64 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.63540798 |
| 65 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.60482760 |
| 66 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.59541724 |
| 67 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.58449018 |
| 68 | Phototransduction_Homo sapiens_hsa04744 | 0.57421762 |
| 69 | Taste transduction_Homo sapiens_hsa04742 | 0.55502136 |
| 70 | Metabolic pathways_Homo sapiens_hsa01100 | 0.54357183 |
| 71 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.53752855 |
| 72 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.53292767 |
| 73 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.49628610 |
| 74 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.49277923 |
| 75 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.47774268 |
| 76 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.47608415 |
| 77 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.45838730 |
| 78 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.44963701 |
| 79 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.42397971 |
| 80 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.42127920 |
| 81 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.42075871 |
| 82 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.41971030 |
| 83 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.41923126 |
| 84 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.41263832 |
| 85 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.40903061 |
| 86 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.39782707 |
| 87 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.38012078 |
| 88 | Endocytosis_Homo sapiens_hsa04144 | 0.36722011 |
| 89 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.35772235 |
| 90 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.33623560 |
| 91 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.32897228 |
| 92 | Thyroid cancer_Homo sapiens_hsa05216 | 0.30246181 |
| 93 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.25522864 |
| 94 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.25464710 |
| 95 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.25053871 |
| 96 | Endometrial cancer_Homo sapiens_hsa05213 | 0.24654689 |
| 97 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.24491952 |
| 98 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.24083565 |
| 99 | Peroxisome_Homo sapiens_hsa04146 | 0.23420995 |
| 100 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.21599012 |

