

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | acrosome reaction (GO:0007340) | 9.81663784 |
| 2 | sperm motility (GO:0030317) | 9.14213196 |
| 3 | chromosome organization involved in meiosis (GO:0070192) | 8.67732430 |
| 4 | piRNA metabolic process (GO:0034587) | 8.47464469 |
| 5 | binding of sperm to zona pellucida (GO:0007339) | 8.46047631 |
| 6 | spermatid development (GO:0007286) | 8.22708573 |
| 7 | synaptonemal complex assembly (GO:0007130) | 7.92243942 |
| 8 | fusion of sperm to egg plasma membrane (GO:0007342) | 7.75071674 |
| 9 | multicellular organism reproduction (GO:0032504) | 7.53324942 |
| 10 | sperm-egg recognition (GO:0035036) | 7.43086499 |
| 11 | synaptonemal complex organization (GO:0070193) | 7.15013681 |
| 12 | DNA methylation involved in gamete generation (GO:0043046) | 7.03737298 |
| 13 | male meiosis I (GO:0007141) | 7.03726258 |
| 14 | meiotic nuclear division (GO:0007126) | 6.78209384 |
| 15 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 6.59049758 |
| 16 | cell-cell recognition (GO:0009988) | 6.13695277 |
| 17 | motile cilium assembly (GO:0044458) | 6.09700253 |
| 18 | DNA synthesis involved in DNA repair (GO:0000731) | 6.03502946 |
| 19 | reproduction (GO:0000003) | 5.96993538 |
| 20 | plasma membrane fusion (GO:0045026) | 5.92202403 |
| 21 | axonemal dynein complex assembly (GO:0070286) | 5.87374326 |
| 22 | meiosis I (GO:0007127) | 5.87296650 |
| 23 | polyamine biosynthetic process (GO:0006596) | 5.51218390 |
| 24 | positive regulation of catecholamine secretion (GO:0033605) | 5.40005194 |
| 25 | microtubule depolymerization (GO:0007019) | 5.22351022 |
| 26 | germ cell development (GO:0007281) | 5.20815600 |
| 27 | histone exchange (GO:0043486) | 5.14243917 |
| 28 | regulation of meiosis I (GO:0060631) | 5.13341024 |
| 29 | DNA packaging (GO:0006323) | 5.07226340 |
| 30 | calcium ion-dependent exocytosis (GO:0017156) | 5.03984131 |
| 31 | negative regulation of inclusion body assembly (GO:0090084) | 5.01231340 |
| 32 | spermatid nucleus differentiation (GO:0007289) | 4.98680540 |
| 33 | single fertilization (GO:0007338) | 4.97151648 |
| 34 | meiotic cell cycle process (GO:1903046) | 4.96001826 |
| 35 | chromosome condensation (GO:0030261) | 4.92346339 |
| 36 | positive regulation of synaptic transmission, dopaminergic (GO:0032226) | 4.91726752 |
| 37 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.88549687 |
| 38 | spermatogenesis (GO:0007283) | 4.82263980 |
| 39 | male gamete generation (GO:0048232) | 4.81361678 |
| 40 | nucleosome disassembly (GO:0006337) | 4.79470989 |
| 41 | protein-DNA complex disassembly (GO:0032986) | 4.79470989 |
| 42 | sperm capacitation (GO:0048240) | 4.78795927 |
| 43 | histone H3-K9 demethylation (GO:0033169) | 4.69327987 |
| 44 | fertilization (GO:0009566) | 4.65690737 |
| 45 | relaxation of smooth muscle (GO:0044557) | 4.58902009 |
| 46 | epithelial cilium movement (GO:0003351) | 4.57762255 |
| 47 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.55408674 |
| 48 | gamete generation (GO:0007276) | 4.54432431 |
| 49 | organic cation transport (GO:0015695) | 4.32972218 |
| 50 | acrosome assembly (GO:0001675) | 4.29325283 |
| 51 | potassium ion export (GO:0071435) | 4.22605147 |
| 52 | rRNA methylation (GO:0031167) | 4.16193276 |
| 53 | single strand break repair (GO:0000012) | 4.13285823 |
| 54 | regulation of oxidative phosphorylation (GO:0002082) | 4.11503082 |
| 55 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 4.02892189 |
| 56 | oogenesis (GO:0048477) | 3.89340981 |
| 57 | microtubule polymerization or depolymerization (GO:0031109) | 3.85927922 |
| 58 | response to acidic pH (GO:0010447) | 3.83991742 |
| 59 | regulation of oxidative stress-induced neuron death (GO:1903203) | 3.81334772 |
| 60 | coenzyme catabolic process (GO:0009109) | 3.79820544 |
| 61 | cilium movement (GO:0003341) | 3.78333230 |
| 62 | cellular biogenic amine biosynthetic process (GO:0042401) | 3.75988763 |
| 63 | female gamete generation (GO:0007292) | 3.70658921 |
| 64 | centriole assembly (GO:0098534) | 3.67006934 |
| 65 | phosphatidylethanolamine metabolic process (GO:0046337) | 3.65481088 |
| 66 | membrane repolarization during action potential (GO:0086011) | 3.64812331 |
| 67 | amine biosynthetic process (GO:0009309) | 3.61682790 |
| 68 | multicellular organismal reproductive process (GO:0048609) | 3.61255777 |
| 69 | sister chromatid cohesion (GO:0007062) | 3.60677535 |
| 70 | resolution of meiotic recombination intermediates (GO:0000712) | 3.53981571 |
| 71 | regulation of cilium movement (GO:0003352) | 3.46006482 |
| 72 | rRNA modification (GO:0000154) | 3.37464423 |
| 73 | response to pheromone (GO:0019236) | 3.35618525 |
| 74 | regulation of histone H3-K9 methylation (GO:0051570) | 3.34400367 |
| 75 | meiotic cell cycle (GO:0051321) | 3.33280847 |
| 76 | male sex determination (GO:0030238) | 3.32433824 |
| 77 | gene silencing by RNA (GO:0031047) | 3.31124416 |
| 78 | regulation of inclusion body assembly (GO:0090083) | 3.27927053 |
| 79 | polyamine metabolic process (GO:0006595) | 3.21480088 |
| 80 | centriole replication (GO:0007099) | 3.20974532 |
| 81 | protein polymerization (GO:0051258) | 3.19347886 |
| 82 | mitochondrion degradation (GO:0000422) | 3.15682291 |
| 83 | activation of protein kinase B activity (GO:0032148) | 3.14071382 |
| 84 | ketone body metabolic process (GO:1902224) | 3.13260349 |
| 85 | cellular ketone body metabolic process (GO:0046950) | 3.12655373 |
| 86 | cellular response to pH (GO:0071467) | 3.09879342 |
| 87 | regulation of hydrogen peroxide-induced cell death (GO:1903205) | 3.06381966 |
| 88 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 3.06272548 |
| 89 | TOR signaling (GO:0031929) | 2.98167630 |
| 90 | meiotic chromosome segregation (GO:0045132) | 2.94758014 |
| 91 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 2.92227199 |
| 92 | chromosome organization (GO:0051276) | 2.91443090 |
| 93 | ventricular system development (GO:0021591) | 2.88350403 |
| 94 | sex differentiation (GO:0007548) | 2.86262212 |
| 95 | regulation of cellular respiration (GO:0043457) | 2.85054412 |
| 96 | microtubule severing (GO:0051013) | 2.83650190 |
| 97 | gene silencing (GO:0016458) | 2.81180001 |
| 98 | membrane repolarization (GO:0086009) | 2.79931978 |
| 99 | male meiosis (GO:0007140) | 10.7828626 |
| 100 | synapsis (GO:0007129) | 10.5233569 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 6.59254519 |
| 2 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 4.88462107 |
| 3 | EZH2_22144423_ChIP-Seq_EOC_Human | 3.96155895 |
| 4 | IGF1R_20145208_ChIP-Seq_DFB_Human | 3.43666715 |
| 5 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 2.90299553 |
| 6 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.89240023 |
| 7 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 2.50578195 |
| 8 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.41548980 |
| 9 | ERA_21632823_ChIP-Seq_H3396_Human | 2.32773267 |
| 10 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 2.28399075 |
| 11 | NANOG_20526341_ChIP-Seq_ESCs_Human | 2.24977608 |
| 12 | ER_23166858_ChIP-Seq_MCF-7_Human | 2.24121853 |
| 13 | VDR_22108803_ChIP-Seq_LS180_Human | 2.20249830 |
| 14 | * CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.06108323 |
| 15 | RAC3_21632823_ChIP-Seq_H3396_Human | 2.02541825 |
| 16 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.01286649 |
| 17 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.01286649 |
| 18 | * SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.91463131 |
| 19 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.91048977 |
| 20 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.91048977 |
| 21 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.90986967 |
| 22 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.87349816 |
| 23 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.86351951 |
| 24 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.77320317 |
| 25 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.74941684 |
| 26 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.72708875 |
| 27 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.69947674 |
| 28 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.68113288 |
| 29 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.67765876 |
| 30 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.66832838 |
| 31 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.66405215 |
| 32 | * FUS_26573619_Chip-Seq_HEK293_Human | 1.65528732 |
| 33 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 1.64875511 |
| 34 | * CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.64038941 |
| 35 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 1.56738168 |
| 36 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.55041223 |
| 37 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.53369646 |
| 38 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.52087355 |
| 39 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.50395583 |
| 40 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.49795234 |
| 41 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.48678684 |
| 42 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.48496306 |
| 43 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.47233115 |
| 44 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.47188051 |
| 45 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.44667443 |
| 46 | P68_20966046_ChIP-Seq_HELA_Human | 1.43500869 |
| 47 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.43408848 |
| 48 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.42163860 |
| 49 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.41625469 |
| 50 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.40995127 |
| 51 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.37843617 |
| 52 | P300_27268052_Chip-Seq_Bcells_Human | 1.36601719 |
| 53 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.35869514 |
| 54 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.35751851 |
| 55 | AR_25329375_ChIP-Seq_VCAP_Human | 1.35210869 |
| 56 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.34449039 |
| 57 | * TBL1_22424771_ChIP-Seq_293T_Human | 1.33587600 |
| 58 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.33308788 |
| 59 | PKCTHETA_26484144_Chip-Seq_BREAST_Human | 1.32718221 |
| 60 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.31301658 |
| 61 | * HOXB7_26014856_ChIP-Seq_BT474_Human | 1.31141092 |
| 62 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.30905796 |
| 63 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.30877568 |
| 64 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.30651170 |
| 65 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.30643053 |
| 66 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.30543036 |
| 67 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.30424973 |
| 68 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.27677000 |
| 69 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 1.27217107 |
| 70 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.27152908 |
| 71 | NFYB_21822215_ChIP-Seq_K562_Human | 1.26259094 |
| 72 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.25235876 |
| 73 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.24531438 |
| 74 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.22490420 |
| 75 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 1.22042804 |
| 76 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.21546811 |
| 77 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.21075137 |
| 78 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.21075137 |
| 79 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.19644024 |
| 80 | TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.16606727 |
| 81 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.15671738 |
| 82 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.14026417 |
| 83 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.11897176 |
| 84 | SPI1_20517297_ChIP-Seq_HL60_Human | 1.11617195 |
| 85 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.11535191 |
| 86 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.11016627 |
| 87 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.09967661 |
| 88 | P300_19829295_ChIP-Seq_ESCs_Human | 1.08454573 |
| 89 | CTCF_21964334_Chip-Seq_Bcells_Human | 1.06639566 |
| 90 | NCOR_22424771_ChIP-Seq_293T_Human | 1.05334378 |
| 91 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.04192577 |
| 92 | GATA3_26560356_Chip-Seq_TH1_Human | 1.03524257 |
| 93 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.02776080 |
| 94 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.00772350 |
| 95 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.00720701 |
| 96 | NFYA_21822215_ChIP-Seq_K562_Human | 1.00063985 |
| 97 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 0.99693218 |
| 98 | SMAD4_21799915_ChIP-Seq_A2780_Human | 0.99114567 |
| 99 | STAT1_20625510_ChIP-Seq_HELA_Human | 0.98276543 |
| 100 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 0.96313511 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 9.77828945 |
| 2 | MP0008004_abnormal_stomach_pH | 5.07199266 |
| 3 | MP0003698_abnormal_male_reproductive | 4.26327706 |
| 4 | MP0001929_abnormal_gametogenesis | 4.19194595 |
| 5 | MP0008877_abnormal_DNA_methylation | 3.83358376 |
| 6 | MP0003718_maternal_effect | 3.48942963 |
| 7 | MP0002160_abnormal_reproductive_system | 3.28918812 |
| 8 | MP0003315_abnormal_perineum_morphology | 3.22073578 |
| 9 | MP0002210_abnormal_sex_determination | 3.15744780 |
| 10 | MP0003136_yellow_coat_color | 2.73383912 |
| 11 | MP0002132_abnormal_respiratory_system | 2.52493857 |
| 12 | MP0002161_abnormal_fertility/fecundity | 2.46747200 |
| 13 | MP0001145_abnormal_male_reproductive | 2.46668804 |
| 14 | MP0008058_abnormal_DNA_repair | 2.35258338 |
| 15 | MP0000653_abnormal_sex_gland | 2.34563951 |
| 16 | MP0005360_urolithiasis | 2.28323746 |
| 17 | MP0000372_irregular_coat_pigmentation | 2.14301927 |
| 18 | MP0005058_abnormal_lysosome_morphology | 2.10542177 |
| 19 | MP0000678_abnormal_parathyroid_gland | 1.95599898 |
| 20 | MP0003646_muscle_fatigue | 1.86149966 |
| 21 | MP0005647_abnormal_sex_gland | 1.79546717 |
| 22 | MP0005389_reproductive_system_phenotype | 1.77570728 |
| 23 | MP0005394_taste/olfaction_phenotype | 1.64324244 |
| 24 | MP0005499_abnormal_olfactory_system | 1.64324244 |
| 25 | MP0005395_other_phenotype | 1.45206777 |
| 26 | MP0000015_abnormal_ear_pigmentation | 1.43242623 |
| 27 | MP0008995_early_reproductive_senescence | 1.42612661 |
| 28 | MP0003693_abnormal_embryo_hatching | 1.35611559 |
| 29 | MP0001984_abnormal_olfaction | 1.33367324 |
| 30 | MP0010368_abnormal_lymphatic_system | 1.31752960 |
| 31 | MP0005464_abnormal_platelet_physiology | 1.25475218 |
| 32 | MP0008789_abnormal_olfactory_epithelium | 1.24440156 |
| 33 | MP0005377_hearing/vestibular/ear_phenot | 1.22740308 |
| 34 | MP0003878_abnormal_ear_physiology | 1.22740308 |
| 35 | MP0009697_abnormal_copulation | 1.20564083 |
| 36 | MP0001664_abnormal_digestion | 1.17553640 |
| 37 | MP0010094_abnormal_chromosome_stability | 1.13763496 |
| 38 | MP0005670_abnormal_white_adipose | 1.13647442 |
| 39 | MP0003699_abnormal_female_reproductive | 1.13175079 |
| 40 | MP0006036_abnormal_mitochondrial_physio | 1.13162570 |
| 41 | MP0004036_abnormal_muscle_relaxation | 1.09029995 |
| 42 | MP0005174_abnormal_tail_pigmentation | 1.08924541 |
| 43 | MP0010386_abnormal_urinary_bladder | 1.03889553 |
| 44 | MP0001119_abnormal_female_reproductive | 1.02213019 |
| 45 | MP0003879_abnormal_hair_cell | 0.98758887 |
| 46 | MP0005408_hypopigmentation | 0.97784087 |
| 47 | MP0001968_abnormal_touch/_nociception | 0.96320937 |
| 48 | MP0004084_abnormal_cardiac_muscle | 0.93219469 |
| 49 | MP0005187_abnormal_penis_morphology | 0.92523726 |
| 50 | MP0002822_catalepsy | 0.92329629 |
| 51 | MP0001879_abnormal_lymphatic_vessel | 0.92130201 |
| 52 | MP0005646_abnormal_pituitary_gland | 0.91636351 |
| 53 | MP0003077_abnormal_cell_cycle | 0.91074987 |
| 54 | MP0002249_abnormal_larynx_morphology | 0.89090866 |
| 55 | MP0003936_abnormal_reproductive_system | 0.88423640 |
| 56 | MP0004381_abnormal_hair_follicle | 0.87131040 |
| 57 | MP0003806_abnormal_nucleotide_metabolis | 0.84589068 |
| 58 | MP0001905_abnormal_dopamine_level | 0.82022216 |
| 59 | MP0005253_abnormal_eye_physiology | 0.81072775 |
| 60 | MP0004085_abnormal_heartbeat | 0.80658870 |
| 61 | MP0005171_absent_coat_pigmentation | 0.79030676 |
| 62 | MP0004233_abnormal_muscle_weight | 0.77441009 |
| 63 | MP0001188_hyperpigmentation | 0.75989572 |
| 64 | MP0001919_abnormal_reproductive_system | 0.74881437 |
| 65 | MP0003045_fibrosis | 0.74166559 |
| 66 | MP0002282_abnormal_trachea_morphology | 0.72529489 |
| 67 | MP0002095_abnormal_skin_pigmentation | 0.71108923 |
| 68 | MP0001485_abnormal_pinna_reflex | 0.70429578 |
| 69 | MP0005551_abnormal_eye_electrophysiolog | 0.70422272 |
| 70 | MP0002090_abnormal_vision | 0.70352730 |
| 71 | MP0000537_abnormal_urethra_morphology | 0.69113669 |
| 72 | MP0005423_abnormal_somatic_nervous | 0.63665352 |
| 73 | MP0002736_abnormal_nociception_after | 0.63406812 |
| 74 | MP0005248_abnormal_Harderian_gland | 0.62437940 |
| 75 | MP0005409_darkened_coat_color | 0.61799234 |
| 76 | MP0002735_abnormal_chemical_nociception | 0.60317125 |
| 77 | MP0000230_abnormal_systemic_arterial | 0.60172473 |
| 78 | MP0001849_ear_inflammation | 0.58632078 |
| 79 | MP0002127_abnormal_cardiovascular_syste | 0.58369167 |
| 80 | MP0006035_abnormal_mitochondrial_morpho | 0.57403083 |
| 81 | MP0003111_abnormal_nucleus_morphology | 0.56662100 |
| 82 | MP0001765_abnormal_ion_homeostasis | 0.52559604 |
| 83 | MP0005075_abnormal_melanosome_morpholog | 0.52111848 |
| 84 | MP0000343_altered_response_to | 0.51560257 |
| 85 | MP0001986_abnormal_taste_sensitivity | 0.50933818 |
| 86 | MP0004957_abnormal_blastocyst_morpholog | 0.50025629 |
| 87 | MP0008932_abnormal_embryonic_tissue | 0.49664429 |
| 88 | MP0000631_abnormal_neuroendocrine_gland | 0.49631655 |
| 89 | MP0001963_abnormal_hearing_physiology | 0.49090585 |
| 90 | MP0000465_gastrointestinal_hemorrhage | 0.48635638 |
| 91 | MP0008775_abnormal_heart_ventricle | 0.47850199 |
| 92 | MP0001661_extended_life_span | 0.47252246 |
| 93 | MP0000026_abnormal_inner_ear | 0.46939041 |
| 94 | MP0005451_abnormal_body_composition | 0.46737366 |
| 95 | MP0000371_diluted_coat_color | 0.46678114 |
| 96 | MP0002638_abnormal_pupillary_reflex | 0.46672811 |
| 97 | MP0002229_neurodegeneration | 0.43029533 |
| 98 | MP0000681_abnormal_thyroid_gland | 0.41763129 |
| 99 | MP0001730_embryonic_growth_arrest | 0.41087925 |
| 100 | MP0002067_abnormal_sensory_capabilities | 0.40960996 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Absent/shortened dynein arms (HP:0200106) | 6.70837426 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.70837426 |
| 3 | Resting tremor (HP:0002322) | 6.24735019 |
| 4 | Abnormal ciliary motility (HP:0012262) | 5.93864501 |
| 5 | Abnormal respiratory motile cilium physiology (HP:0012261) | 5.77736408 |
| 6 | Infertility (HP:0000789) | 5.38454644 |
| 7 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 5.16695100 |
| 8 | Hypoplasia of the uterus (HP:0000013) | 5.03864348 |
| 9 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.93994383 |
| 10 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.93994383 |
| 11 | Azoospermia (HP:0000027) | 4.35517043 |
| 12 | Postural instability (HP:0002172) | 4.23879333 |
| 13 | Abnormal sex determination (HP:0012244) | 4.20574814 |
| 14 | Sex reversal (HP:0012245) | 4.20574814 |
| 15 | Male infertility (HP:0003251) | 3.97750178 |
| 16 | Severe visual impairment (HP:0001141) | 3.80449802 |
| 17 | Gonadal dysgenesis (HP:0000133) | 3.77452053 |
| 18 | Abnormal spermatogenesis (HP:0008669) | 3.72098973 |
| 19 | Ventricular fibrillation (HP:0001663) | 3.68468676 |
| 20 | Aplasia/hypoplasia of the uterus (HP:0008684) | 3.62783739 |
| 21 | Rhinitis (HP:0012384) | 3.50148234 |
| 22 | Reduced antithrombin III activity (HP:0001976) | 3.33505248 |
| 23 | Facial hemangioma (HP:0000329) | 3.23126071 |
| 24 | Male pseudohermaphroditism (HP:0000037) | 3.22798372 |
| 25 | Nasal polyposis (HP:0100582) | 3.08377234 |
| 26 | Congenital sensorineural hearing impairment (HP:0008527) | 3.03445085 |
| 27 | Abnormality of the columella (HP:0009929) | 3.01888128 |
| 28 | Abnormality of macular pigmentation (HP:0008002) | 2.83746451 |
| 29 | Tubulointerstitial nephritis (HP:0001970) | 2.78951683 |
| 30 | Self-mutilation (HP:0000742) | 2.76990980 |
| 31 | Bony spicule pigmentary retinopathy (HP:0007737) | 2.75880898 |
| 32 | Type II lissencephaly (HP:0007260) | 2.75693055 |
| 33 | Cerebellar dysplasia (HP:0007033) | 2.73971791 |
| 34 | Colitis (HP:0002583) | 2.61093885 |
| 35 | Attenuation of retinal blood vessels (HP:0007843) | 2.61013460 |
| 36 | Urinary urgency (HP:0000012) | 2.59921469 |
| 37 | Decreased central vision (HP:0007663) | 2.57989152 |
| 38 | Prolonged bleeding time (HP:0003010) | 2.56326161 |
| 39 | Osteomalacia (HP:0002749) | 2.52008018 |
| 40 | Retinal dysplasia (HP:0007973) | 2.51583907 |
| 41 | Absent thumb (HP:0009777) | 2.51202399 |
| 42 | Generalized aminoaciduria (HP:0002909) | 2.49769510 |
| 43 | Abnormality of the nasal mucosa (HP:0000433) | 2.40802898 |
| 44 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 2.37619344 |
| 45 | Horizontal nystagmus (HP:0000666) | 2.36539172 |
| 46 | Menorrhagia (HP:0000132) | 2.34740409 |
| 47 | Abnormality of lateral ventricle (HP:0030047) | 2.34584719 |
| 48 | Hypophosphatemic rickets (HP:0004912) | 2.34321182 |
| 49 | Sensory axonal neuropathy (HP:0003390) | 2.33444198 |
| 50 | Ectopic kidney (HP:0000086) | 2.28607412 |
| 51 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 2.27843305 |
| 52 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.26736578 |
| 53 | Syncope (HP:0001279) | 2.23843816 |
| 54 | Chromsome breakage (HP:0040012) | 2.22985240 |
| 55 | Capillary hemangiomas (HP:0005306) | 2.22788516 |
| 56 | Abnormality of DNA repair (HP:0003254) | 2.22398213 |
| 57 | Germ cell neoplasia (HP:0100728) | 2.20804828 |
| 58 | Bronchiectasis (HP:0002110) | 2.19332808 |
| 59 | Spontaneous abortion (HP:0005268) | 2.18923311 |
| 60 | Abnormality of the ileum (HP:0001549) | 2.18213563 |
| 61 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.17610621 |
| 62 | Small intestinal stenosis (HP:0012848) | 2.14500741 |
| 63 | Duodenal stenosis (HP:0100867) | 2.14500741 |
| 64 | Atonic seizures (HP:0010819) | 2.09851145 |
| 65 | Anterior segment dysgenesis (HP:0007700) | 2.09416337 |
| 66 | Impulsivity (HP:0100710) | 2.03831510 |
| 67 | Congenital stationary night blindness (HP:0007642) | 2.03436719 |
| 68 | Meckel diverticulum (HP:0002245) | 2.02332168 |
| 69 | Median cleft lip (HP:0000161) | 2.00852715 |
| 70 | Chronic bronchitis (HP:0004469) | 1.98634208 |
| 71 | Retinal atrophy (HP:0001105) | 1.96957675 |
| 72 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 1.95500849 |
| 73 | Bradykinesia (HP:0002067) | 1.95065179 |
| 74 | Hyperthyroidism (HP:0000836) | 1.94565965 |
| 75 | Abnormality of the preputium (HP:0100587) | 1.91807142 |
| 76 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 1.90601498 |
| 77 | Bell-shaped thorax (HP:0001591) | 1.87308183 |
| 78 | Dyschromatopsia (HP:0007641) | 1.86869631 |
| 79 | Aplasia/Hypoplasia of the macula (HP:0008059) | 1.86376449 |
| 80 | Upper limb muscle weakness (HP:0003484) | 1.84243864 |
| 81 | Gonadotropin excess (HP:0000837) | 1.79587014 |
| 82 | Petechiae (HP:0000967) | 1.75980208 |
| 83 | Optic nerve hypoplasia (HP:0000609) | 1.75609917 |
| 84 | Cutaneous melanoma (HP:0012056) | 1.74843450 |
| 85 | Inflammation of the large intestine (HP:0002037) | 1.74283510 |
| 86 | Abnormality of chromosome stability (HP:0003220) | 1.74032530 |
| 87 | Hypoplasia of the fovea (HP:0007750) | 1.73764542 |
| 88 | Aplasia/Hypoplasia of the fovea (HP:0008060) | 1.73764542 |
| 89 | Occipital encephalocele (HP:0002085) | 1.73448344 |
| 90 | Abnormality of the intrinsic pathway (HP:0010989) | 1.72785048 |
| 91 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.72313478 |
| 92 | Abnormal large intestine physiology (HP:0012700) | 1.71380217 |
| 93 | Renal dysplasia (HP:0000110) | 1.71360682 |
| 94 | Decreased number of peripheral myelinated nerve fibers (HP:0003380) | 1.67703459 |
| 95 | Thoracic kyphosis (HP:0002942) | 1.67687057 |
| 96 | Aplasia/Hypoplasia affecting the retina (HP:0008061) | 1.67549309 |
| 97 | Unsteady gait (HP:0002317) | 1.66231742 |
| 98 | Abnormal protein glycosylation (HP:0012346) | 1.65930016 |
| 99 | Abnormal glycosylation (HP:0012345) | 1.65930016 |
| 100 | Abnormal protein N-linked glycosylation (HP:0012347) | 1.65930016 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PINK1 | 9.12825699 |
| 2 | MARK3 | 5.41180269 |
| 3 | ZAK | 3.58738660 |
| 4 | TLK1 | 3.22492964 |
| 5 | PLK4 | 3.22219133 |
| 6 | MYLK | 2.98640553 |
| 7 | STK38 | 2.28692432 |
| 8 | NEK2 | 2.22763072 |
| 9 | PNCK | 2.02821191 |
| 10 | RPS6KA5 | 2.00597243 |
| 11 | MST1R | 1.63503595 |
| 12 | PRKD3 | 1.60996940 |
| 13 | ARAF | 1.56576860 |
| 14 | STK38L | 1.51619925 |
| 15 | MAP3K9 | 1.48606466 |
| 16 | PTK2B | 1.47801550 |
| 17 | LATS1 | 1.45789918 |
| 18 | BMPR1B | 1.41468966 |
| 19 | AKT3 | 1.33294389 |
| 20 | PLK2 | 1.26037220 |
| 21 | CDK19 | 1.25052319 |
| 22 | LATS2 | 1.24655382 |
| 23 | FRK | 1.22158550 |
| 24 | MET | 1.18960507 |
| 25 | MAP3K13 | 1.17476533 |
| 26 | DDR2 | 1.16044881 |
| 27 | INSRR | 1.15346855 |
| 28 | KSR2 | 1.12026681 |
| 29 | TESK1 | 1.10975747 |
| 30 | MAP4K2 | 1.09390664 |
| 31 | CDK3 | 1.03897253 |
| 32 | BRAF | 0.99758130 |
| 33 | PDPK1 | 0.95792099 |
| 34 | PDK2 | 0.89881710 |
| 35 | WNK1 | 0.88966014 |
| 36 | MAP2K7 | 0.87560515 |
| 37 | PAK1 | 0.85198494 |
| 38 | ACVR1B | 0.82898212 |
| 39 | STK3 | 0.81773295 |
| 40 | CDK7 | 0.80132969 |
| 41 | CDK12 | 0.79337191 |
| 42 | MAPK15 | 0.77009370 |
| 43 | PDK1 | 0.74818952 |
| 44 | BMX | 0.74656980 |
| 45 | NTRK3 | 0.73546706 |
| 46 | DYRK3 | 0.72538112 |
| 47 | AURKA | 0.71461010 |
| 48 | VRK1 | 0.69225507 |
| 49 | RET | 0.68079119 |
| 50 | PLK1 | 0.66118415 |
| 51 | CAMK1G | 0.64239177 |
| 52 | NEK6 | 0.63243375 |
| 53 | CDK14 | 0.60473060 |
| 54 | GRK1 | 0.60200444 |
| 55 | FGR | 0.58940795 |
| 56 | WEE1 | 0.56750249 |
| 57 | PKN1 | 0.56561655 |
| 58 | TTK | 0.52502244 |
| 59 | ATM | 0.51910824 |
| 60 | SGK223 | 0.51636763 |
| 61 | SGK494 | 0.51636763 |
| 62 | PRKG1 | 0.50877505 |
| 63 | MAP3K2 | 0.48977530 |
| 64 | EIF2AK1 | 0.48753379 |
| 65 | ILK | 0.48569814 |
| 66 | OXSR1 | 0.47609220 |
| 67 | MAP3K1 | 0.47319132 |
| 68 | STK16 | 0.45106231 |
| 69 | MAPK13 | 0.43620541 |
| 70 | CHEK1 | 0.42439749 |
| 71 | CCNB1 | 0.38031141 |
| 72 | BRSK2 | 0.37815001 |
| 73 | ROCK1 | 0.37380395 |
| 74 | PAK2 | 0.36538769 |
| 75 | MAP3K3 | 0.36399646 |
| 76 | CDK8 | 0.35897900 |
| 77 | BRD4 | 0.35810964 |
| 78 | RAF1 | 0.35697373 |
| 79 | MAPKAPK3 | 0.35285102 |
| 80 | PRKCQ | 0.34650165 |
| 81 | MAP3K8 | 0.33373206 |
| 82 | PIK3CG | 0.31812109 |
| 83 | CDC42BPA | 0.31613306 |
| 84 | ATR | 0.31277685 |
| 85 | MTOR | 0.30476277 |
| 86 | RIPK4 | 0.30120208 |
| 87 | CSNK1A1L | 0.29986394 |
| 88 | CAMK1 | 0.29982975 |
| 89 | CDK1 | 0.29023988 |
| 90 | PRKG2 | 0.28763562 |
| 91 | AKT2 | 0.28603522 |
| 92 | BTK | 0.28409342 |
| 93 | MOS | 0.27468642 |
| 94 | RPS6KB1 | 0.26690730 |
| 95 | PBK | 0.25695873 |
| 96 | CSNK1G3 | 0.25536017 |
| 97 | EGFR | 0.25467707 |
| 98 | EIF2AK3 | 0.25228353 |
| 99 | MAPK1 | 0.25194412 |
| 100 | MELK | 0.25052684 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 6.07721459 |
| 2 | Gap junction_Homo sapiens_hsa04540 | 4.11992981 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.12270669 |
| 4 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 2.84905215 |
| 5 | Basal transcription factors_Homo sapiens_hsa03022 | 2.83182076 |
| 6 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 2.38676553 |
| 7 | Nitrogen metabolism_Homo sapiens_hsa00910 | 2.31349569 |
| 8 | Oocyte meiosis_Homo sapiens_hsa04114 | 2.30438897 |
| 9 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 2.23740078 |
| 10 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 2.10051338 |
| 11 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 2.09635417 |
| 12 | Alcoholism_Homo sapiens_hsa05034 | 2.07553026 |
| 13 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.07167254 |
| 14 | Apoptosis_Homo sapiens_hsa04210 | 2.06424379 |
| 15 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.02311685 |
| 16 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.99023543 |
| 17 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.93423920 |
| 18 | Phagosome_Homo sapiens_hsa04145 | 1.89497005 |
| 19 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.89448944 |
| 20 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.84222836 |
| 21 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.81772082 |
| 22 | RNA transport_Homo sapiens_hsa03013 | 1.81534090 |
| 23 | Homologous recombination_Homo sapiens_hsa03440 | 1.67355888 |
| 24 | Mismatch repair_Homo sapiens_hsa03430 | 1.49306613 |
| 25 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.43191250 |
| 26 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.42686395 |
| 27 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 1.33273960 |
| 28 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.32355244 |
| 29 | Cell cycle_Homo sapiens_hsa04110 | 1.28621282 |
| 30 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.26037458 |
| 31 | DNA replication_Homo sapiens_hsa03030 | 1.23248944 |
| 32 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 1.13803373 |
| 33 | Taste transduction_Homo sapiens_hsa04742 | 1.13351668 |
| 34 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.11435294 |
| 35 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.09228647 |
| 36 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 1.06811519 |
| 37 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 1.05514904 |
| 38 | Tyrosine metabolism_Homo sapiens_hsa00350 | 1.04334907 |
| 39 | Purine metabolism_Homo sapiens_hsa00230 | 0.99973501 |
| 40 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.92264142 |
| 41 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.85804563 |
| 42 | Sulfur relay system_Homo sapiens_hsa04122 | 0.83808529 |
| 43 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.82565467 |
| 44 | RNA degradation_Homo sapiens_hsa03018 | 0.82100360 |
| 45 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.81490303 |
| 46 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.78887178 |
| 47 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.78245683 |
| 48 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.74331181 |
| 49 | Base excision repair_Homo sapiens_hsa03410 | 0.73874039 |
| 50 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.69077161 |
| 51 | Platelet activation_Homo sapiens_hsa04611 | 0.68707804 |
| 52 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.67368081 |
| 53 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.66619232 |
| 54 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.64178630 |
| 55 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.62668618 |
| 56 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.61164173 |
| 57 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.60381990 |
| 58 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.60160157 |
| 59 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.59868216 |
| 60 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.57084850 |
| 61 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.56269636 |
| 62 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.56211301 |
| 63 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.55899329 |
| 64 | Circadian rhythm_Homo sapiens_hsa04710 | 0.55629521 |
| 65 | Retinol metabolism_Homo sapiens_hsa00830 | 0.50098810 |
| 66 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.49922749 |
| 67 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.49670214 |
| 68 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.47830741 |
| 69 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.46688024 |
| 70 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.44324171 |
| 71 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.44203385 |
| 72 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.43643636 |
| 73 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.42476634 |
| 74 | RNA polymerase_Homo sapiens_hsa03020 | 0.40747603 |
| 75 | Metabolic pathways_Homo sapiens_hsa01100 | 0.40161609 |
| 76 | Endocytosis_Homo sapiens_hsa04144 | 0.39083154 |
| 77 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.36969856 |
| 78 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.35760685 |
| 79 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.35701246 |
| 80 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.34610109 |
| 81 | Huntingtons disease_Homo sapiens_hsa05016 | 0.33289479 |
| 82 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.32042163 |
| 83 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.31861986 |
| 84 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.31618375 |
| 85 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.27989835 |
| 86 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.27263283 |
| 87 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.27119224 |
| 88 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.26375911 |
| 89 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.26303076 |
| 90 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.26179761 |
| 91 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.26061766 |
| 92 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.25783974 |
| 93 | ABC transporters_Homo sapiens_hsa02010 | 0.25754400 |
| 94 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.25449362 |
| 95 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.23956436 |
| 96 | Prostate cancer_Homo sapiens_hsa05215 | 0.22007069 |
| 97 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.21808694 |
| 98 | Renin secretion_Homo sapiens_hsa04924 | 0.20362190 |
| 99 | Endometrial cancer_Homo sapiens_hsa05213 | 0.20024373 |
| 100 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.19899587 |

