

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | acrosome assembly (GO:0001675) | 9.49802107 |
| 2 | sperm motility (GO:0030317) | 9.40956893 |
| 3 | axonemal dynein complex assembly (GO:0070286) | 9.10497574 |
| 4 | sperm-egg recognition (GO:0035036) | 8.99805569 |
| 5 | male meiosis I (GO:0007141) | 8.62998148 |
| 6 | binding of sperm to zona pellucida (GO:0007339) | 8.47964894 |
| 7 | chromosome organization involved in meiosis (GO:0070192) | 8.43918035 |
| 8 | multicellular organism reproduction (GO:0032504) | 8.24344221 |
| 9 | spermatid development (GO:0007286) | 8.07493664 |
| 10 | cell-cell recognition (GO:0009988) | 8.05172023 |
| 11 | meiotic nuclear division (GO:0007126) | 7.98548598 |
| 12 | plasma membrane fusion (GO:0045026) | 7.95675716 |
| 13 | acrosome reaction (GO:0007340) | 7.78099754 |
| 14 | epithelial cilium movement (GO:0003351) | 7.43522345 |
| 15 | motile cilium assembly (GO:0044458) | 7.37206759 |
| 16 | meiosis I (GO:0007127) | 7.13663050 |
| 17 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 6.95901275 |
| 18 | cell wall macromolecule catabolic process (GO:0016998) | 6.78334230 |
| 19 | cell wall macromolecule metabolic process (GO:0044036) | 6.78334230 |
| 20 | reproduction (GO:0000003) | 6.68717175 |
| 21 | cilium movement (GO:0003341) | 6.61020707 |
| 22 | regulation of meiosis I (GO:0060631) | 6.55778026 |
| 23 | gene silencing by RNA (GO:0031047) | 5.88789380 |
| 24 | regulation of cilium movement (GO:0003352) | 5.78750419 |
| 25 | meiotic cell cycle (GO:0051321) | 5.69322664 |
| 26 | fertilization (GO:0009566) | 5.57404756 |
| 27 | single fertilization (GO:0007338) | 5.57240498 |
| 28 | spermatogenesis (GO:0007283) | 5.41560269 |
| 29 | male gamete generation (GO:0048232) | 5.40064593 |
| 30 | germ cell development (GO:0007281) | 5.25243279 |
| 31 | negative regulation of inclusion body assembly (GO:0090084) | 5.24203701 |
| 32 | meiotic cell cycle process (GO:1903046) | 5.23475058 |
| 33 | sperm capacitation (GO:0048240) | 5.17555775 |
| 34 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 5.07781478 |
| 35 | gamete generation (GO:0007276) | 4.97074867 |
| 36 | genitalia morphogenesis (GO:0035112) | 4.87218783 |
| 37 | synapsis (GO:0007129) | 4.77493411 |
| 38 | microtubule depolymerization (GO:0007019) | 4.49747213 |
| 39 | ventricular system development (GO:0021591) | 4.48549051 |
| 40 | nuclear pore complex assembly (GO:0051292) | 4.18300842 |
| 41 | DNA alkylation (GO:0006305) | 4.17150631 |
| 42 | DNA methylation (GO:0006306) | 4.17150631 |
| 43 | regulation of inclusion body assembly (GO:0090083) | 4.12481052 |
| 44 | seminiferous tubule development (GO:0072520) | 4.11742623 |
| 45 | monoubiquitinated protein deubiquitination (GO:0035520) | 4.03070394 |
| 46 | gene silencing (GO:0016458) | 3.92512421 |
| 47 | protein localization to cilium (GO:0061512) | 3.91113338 |
| 48 | multicellular organismal reproductive process (GO:0048609) | 3.86190415 |
| 49 | microtubule severing (GO:0051013) | 3.74851181 |
| 50 | cell recognition (GO:0008037) | 3.62271034 |
| 51 | sister chromatid cohesion (GO:0007062) | 3.58148846 |
| 52 | organic cation transport (GO:0015695) | 3.54809954 |
| 53 | nuclear pore organization (GO:0006999) | 3.52256864 |
| 54 | chaperone-mediated protein complex assembly (GO:0051131) | 3.50538830 |
| 55 | sex differentiation (GO:0007548) | 3.45902071 |
| 56 | regulation of microtubule-based movement (GO:0060632) | 3.42796473 |
| 57 | intraciliary transport (GO:0042073) | 3.42237862 |
| 58 | regulation of histone H3-K9 methylation (GO:0051570) | 3.39947819 |
| 59 | regulation of centriole replication (GO:0046599) | 3.37313338 |
| 60 | histone exchange (GO:0043486) | 3.29257419 |
| 61 | calcium ion-dependent exocytosis (GO:0017156) | 3.27797179 |
| 62 | DNA methylation or demethylation (GO:0044728) | 3.25711395 |
| 63 | negative regulation of organelle assembly (GO:1902116) | 3.25465289 |
| 64 | reciprocal meiotic recombination (GO:0007131) | 3.24970406 |
| 65 | reciprocal DNA recombination (GO:0035825) | 3.24970406 |
| 66 | DNA packaging (GO:0006323) | 3.23363829 |
| 67 | protein polyglutamylation (GO:0018095) | 3.20156700 |
| 68 | pore complex assembly (GO:0046931) | 3.18865595 |
| 69 | oogenesis (GO:0048477) | 3.18291073 |
| 70 | translesion synthesis (GO:0019985) | 3.11702310 |
| 71 | resolution of meiotic recombination intermediates (GO:0000712) | 3.10195240 |
| 72 | meiotic chromosome segregation (GO:0045132) | 3.06864363 |
| 73 | multicellular organismal development (GO:0007275) | 3.06474525 |
| 74 | regulation of chromatin binding (GO:0035561) | 3.06426252 |
| 75 | heterochromatin organization (GO:0070828) | 3.04866302 |
| 76 | negative regulation of DNA repair (GO:0045738) | 3.01188524 |
| 77 | left/right pattern formation (GO:0060972) | 2.97158411 |
| 78 | DNA replication-dependent nucleosome assembly (GO:0006335) | 2.96641070 |
| 79 | DNA replication-dependent nucleosome organization (GO:0034723) | 2.96641070 |
| 80 | spermatid nucleus differentiation (GO:0007289) | 2.96317426 |
| 81 | chromosome condensation (GO:0030261) | 2.95144930 |
| 82 | regulation of protein polyubiquitination (GO:1902914) | 2.91568617 |
| 83 | regulation of spindle checkpoint (GO:0090231) | 2.79050212 |
| 84 | carnitine transmembrane transport (GO:1902603) | 2.78777215 |
| 85 | nucleus organization (GO:0006997) | 2.77247411 |
| 86 | amino-acid betaine transport (GO:0015838) | 2.73453644 |
| 87 | carnitine transport (GO:0015879) | 2.73453644 |
| 88 | DNA synthesis involved in DNA repair (GO:0000731) | 2.71515522 |
| 89 | DNA modification (GO:0006304) | 2.71430670 |
| 90 | blastocyst development (GO:0001824) | 2.70575783 |
| 91 | axoneme assembly (GO:0035082) | 2.69019031 |
| 92 | chromosome organization (GO:0051276) | 2.67747930 |
| 93 | positive regulation of meiosis (GO:0045836) | 2.66031532 |
| 94 | piRNA metabolic process (GO:0034587) | 15.4777311 |
| 95 | cilium or flagellum-dependent cell motility (GO:0001539) | 12.5173991 |
| 96 | male meiosis (GO:0007140) | 12.0145934 |
| 97 | synaptonemal complex organization (GO:0070193) | 11.9521116 |
| 98 | synaptonemal complex assembly (GO:0007130) | 11.8528860 |
| 99 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.6181215 |
| 100 | DNA methylation involved in gamete generation (GO:0043046) | 10.5148889 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 4.03929872 |
| 2 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 3.70410679 |
| 3 | EZH2_22144423_ChIP-Seq_EOC_Human | 3.49907134 |
| 4 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 2.87099408 |
| 5 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 2.79349028 |
| 6 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 13.2421370 |
| 7 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.96071515 |
| 8 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.91022272 |
| 9 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.90551003 |
| 10 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.89817669 |
| 11 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.75136809 |
| 12 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.74958261 |
| 13 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.72973009 |
| 14 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.59644399 |
| 15 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.58376273 |
| 16 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.58151915 |
| 17 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.49360621 |
| 18 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.48188751 |
| 19 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.47749074 |
| 20 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.46521556 |
| 21 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 1.42150961 |
| 22 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 1.34738995 |
| 23 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.34381083 |
| 24 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.33643002 |
| 25 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.31888793 |
| 26 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.29876266 |
| 27 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 1.28931321 |
| 28 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 1.25724875 |
| 29 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.24722270 |
| 30 | GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.23597914 |
| 31 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 1.21227548 |
| 32 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.19557036 |
| 33 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.19028803 |
| 34 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.15660274 |
| 35 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.15650512 |
| 36 | VDR_22108803_ChIP-Seq_LS180_Human | 1.12094370 |
| 37 | GATA3_21867929_ChIP-Seq_TH1_Mouse | 1.11967263 |
| 38 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 1.11812695 |
| 39 | RXRA_24833708_ChIP-Seq_LIVER_Mouse | 1.10532957 |
| 40 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.10231847 |
| 41 | SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.09441851 |
| 42 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.08209963 |
| 43 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 1.08100967 |
| 44 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.06935251 |
| 45 | RARA_24833708_ChIP-Seq_LIVER_Mouse | 1.04549589 |
| 46 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 1.03874253 |
| 47 | FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.03257275 |
| 48 | LUZP1_20508642_ChIP-Seq_ESCs_Mouse | 1.03034853 |
| 49 | LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.01482366 |
| 50 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.01178212 |
| 51 | PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 0.99573759 |
| 52 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 0.97595690 |
| 53 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 0.97392318 |
| 54 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 0.96144956 |
| 55 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 0.95652853 |
| 56 | NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse | 0.95015168 |
| 57 | PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse | 0.94364955 |
| 58 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 0.94273554 |
| 59 | CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 0.93440208 |
| 60 | OCT4_18555785_Chip-Seq_ESCs_Mouse | 0.92471266 |
| 61 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.91741465 |
| 62 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 0.91741465 |
| 63 | CBP_20019798_ChIP-Seq_JUKART_Human | 0.91637152 |
| 64 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 0.91637152 |
| 65 | SOX2_21211035_ChIP-Seq_LN229_Human | 0.91371837 |
| 66 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 0.89137897 |
| 67 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 0.88489709 |
| 68 | E2F7_22180533_ChIP-Seq_HELA_Human | 0.88172774 |
| 69 | RCOR3_21632747_ChIP-Seq_MESCs_Mouse | 0.88042125 |
| 70 | ESRRB_18555785_Chip-Seq_ESCs_Mouse | 0.88015935 |
| 71 | SPI1_26923725_Chip-Seq_HPCs_Mouse | 0.87631021 |
| 72 | ERG_20517297_ChIP-Seq_VCAP_Human | 0.86626542 |
| 73 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 0.86501314 |
| 74 | SIN3A_21632747_ChIP-Seq_MESCs_Mouse | 0.85973937 |
| 75 | ESET_19884257_ChIP-Seq_ESCs_Mouse | 0.85474376 |
| 76 | FLI1_21867929_ChIP-Seq_CD8_Mouse | 0.85406096 |
| 77 | PHF8_20622854_ChIP-Seq_HELA_Human | 0.85264054 |
| 78 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 0.85106300 |
| 79 | PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 0.84683611 |
| 80 | CTCF_26484167_Chip-Seq_Bcells_Mouse | 0.84233421 |
| 81 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 0.83990470 |
| 82 | GATA3_26560356_Chip-Seq_TH1_Human | 0.83775992 |
| 83 | KLF4_18555785_Chip-Seq_ESCs_Mouse | 0.82707980 |
| 84 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 0.81709393 |
| 85 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 0.81101210 |
| 86 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 0.81047458 |
| 87 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 0.80448956 |
| 88 | E2F1_20622854_ChIP-Seq_HELA_Human | 0.80210525 |
| 89 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 0.80127507 |
| 90 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 0.79387833 |
| 91 | BCAT_22108803_ChIP-Seq_LS180_Human | 0.78794447 |
| 92 | P300_18555785_Chip-Seq_ESCs_Mouse | 0.78704294 |
| 93 | CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.78163720 |
| 94 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 0.78071934 |
| 95 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 0.78071934 |
| 96 | RCOR2_21632747_ChIP-Seq_MESCs_Mouse | 0.76095279 |
| 97 | ETS1_22383799_ChIP-Seq_G1ME_Mouse | 0.76051069 |
| 98 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 0.74927560 |
| 99 | KDM2B_26808549_Chip-Seq_REH_Human | 0.73227893 |
| 100 | GF1_26923725_Chip-Seq_HPCs_Mouse | 0.72681466 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0008877_abnormal_DNA_methylation | 8.31526253 |
| 2 | MP0001929_abnormal_gametogenesis | 5.57927611 |
| 3 | MP0003698_abnormal_male_reproductive | 5.49429010 |
| 4 | MP0002210_abnormal_sex_determination | 4.65872152 |
| 5 | MP0008057_abnormal_DNA_replication | 4.03713790 |
| 6 | MP0001145_abnormal_male_reproductive | 3.92598993 |
| 7 | MP0000653_abnormal_sex_gland | 3.41712934 |
| 8 | MP0002161_abnormal_fertility/fecundity | 2.97989787 |
| 9 | MP0008995_early_reproductive_senescence | 2.90481700 |
| 10 | MP0002653_abnormal_ependyma_morphology | 2.70405801 |
| 11 | MP0010094_abnormal_chromosome_stability | 2.69098262 |
| 12 | MP0003786_premature_aging | 2.51399819 |
| 13 | MP0008058_abnormal_DNA_repair | 2.44715925 |
| 14 | MP0002160_abnormal_reproductive_system | 2.13536355 |
| 15 | MP0005410_abnormal_fertilization | 11.3642553 |
| 16 | MP0005623_abnormal_meninges_morphology | 1.80441802 |
| 17 | MP0008007_abnormal_cellular_replicative | 1.68357730 |
| 18 | MP0003111_abnormal_nucleus_morphology | 1.38185231 |
| 19 | MP0004808_abnormal_hematopoietic_stem | 1.26851853 |
| 20 | MP0005647_abnormal_sex_gland | 1.19221237 |
| 21 | MP0005377_hearing/vestibular/ear_phenot | 1.17812579 |
| 22 | MP0003878_abnormal_ear_physiology | 1.17812579 |
| 23 | MP0010307_abnormal_tumor_latency | 1.15240398 |
| 24 | MP0003077_abnormal_cell_cycle | 1.13228947 |
| 25 | MP0003646_muscle_fatigue | 1.10040371 |
| 26 | MP0003011_delayed_dark_adaptation | 1.09451383 |
| 27 | MP0005389_reproductive_system_phenotype | 1.08819509 |
| 28 | MP0000427_abnormal_hair_cycle | 0.99954846 |
| 29 | MP0009046_muscle_twitch | 0.97836977 |
| 30 | MP0001119_abnormal_female_reproductive | 0.91263611 |
| 31 | MP0001730_embryonic_growth_arrest | 0.91196618 |
| 32 | MP0004957_abnormal_blastocyst_morpholog | 0.91018915 |
| 33 | MP0000358_abnormal_cell_content/ | 0.84230196 |
| 34 | MP0002282_abnormal_trachea_morphology | 0.83985109 |
| 35 | MP0003693_abnormal_embryo_hatching | 0.83499006 |
| 36 | MP0003699_abnormal_female_reproductive | 0.82280253 |
| 37 | MP0004134_abnormal_chest_morphology | 0.76781223 |
| 38 | MP0005397_hematopoietic_system_phenotyp | 0.72459200 |
| 39 | MP0001545_abnormal_hematopoietic_system | 0.72459200 |
| 40 | MP0000313_abnormal_cell_death | 0.70405063 |
| 41 | MP0003890_abnormal_embryonic-extraembry | 0.70390756 |
| 42 | MP0005670_abnormal_white_adipose | 0.66491357 |
| 43 | MP0004233_abnormal_muscle_weight | 0.63048978 |
| 44 | MP0001727_abnormal_embryo_implantation | 0.62829975 |
| 45 | MP0005380_embryogenesis_phenotype | 0.54543490 |
| 46 | MP0001672_abnormal_embryogenesis/_devel | 0.54543490 |
| 47 | MP0001697_abnormal_embryo_size | 0.54184677 |
| 48 | MP0001293_anophthalmia | 0.52706797 |
| 49 | MP0001765_abnormal_ion_homeostasis | 0.50171046 |
| 50 | MP0003984_embryonic_growth_retardation | 0.50041149 |
| 51 | MP0000350_abnormal_cell_proliferation | 0.47707158 |
| 52 | MP0000647_abnormal_sebaceous_gland | 0.47128433 |
| 53 | MP0003936_abnormal_reproductive_system | 0.47101799 |
| 54 | MP0008932_abnormal_embryonic_tissue | 0.46961520 |
| 55 | MP0006036_abnormal_mitochondrial_physio | 0.46364514 |
| 56 | MP0002084_abnormal_developmental_patter | 0.45986733 |
| 57 | MP0005174_abnormal_tail_pigmentation | 0.45827906 |
| 58 | MP0002088_abnormal_embryonic_growth/wei | 0.45329624 |
| 59 | MP0003115_abnormal_respiratory_system | 0.45110949 |
| 60 | MP0002269_muscular_atrophy | 0.44910927 |
| 61 | MP0004197_abnormal_fetal_growth/weight/ | 0.44716804 |
| 62 | MP0001661_extended_life_span | 0.43946808 |
| 63 | MP0003123_paternal_imprinting | 0.43479531 |
| 64 | MP0002080_prenatal_lethality | 0.42035898 |
| 65 | MP0003045_fibrosis | 0.40448867 |
| 66 | MP0005360_urolithiasis | 0.39621863 |
| 67 | MP0002019_abnormal_tumor_incidence | 0.39546736 |
| 68 | MP0003950_abnormal_plasma_membrane | 0.38154120 |
| 69 | MP0001984_abnormal_olfaction | 0.37456349 |
| 70 | MP0002085_abnormal_embryonic_tissue | 0.36797690 |
| 71 | MP0000015_abnormal_ear_pigmentation | 0.36333944 |
| 72 | MP0002092_abnormal_eye_morphology | 0.36066595 |
| 73 | MP0000569_abnormal_digit_pigmentation | 0.34923044 |
| 74 | MP0005409_darkened_coat_color | 0.33582071 |
| 75 | MP0002971_abnormal_brown_adipose | 0.33334375 |
| 76 | MP0005266_abnormal_metabolism | 0.33228963 |
| 77 | MP0009278_abnormal_bone_marrow | 0.32226911 |
| 78 | MP0002102_abnormal_ear_morphology | 0.32025454 |
| 79 | MP0005636_abnormal_mineral_homeostasis | 0.31552534 |
| 80 | MP0006035_abnormal_mitochondrial_morpho | 0.30931770 |
| 81 | MP0009115_abnormal_fat_cell | 0.30683960 |
| 82 | MP0002086_abnormal_extraembryonic_tissu | 0.30638304 |
| 83 | MP0005391_vision/eye_phenotype | 0.30471401 |
| 84 | MP0005076_abnormal_cell_differentiation | 0.30294877 |
| 85 | MP0004019_abnormal_vitamin_homeostasis | 0.29408895 |
| 86 | MP0002970_abnormal_white_adipose | 0.29088081 |
| 87 | MP0004043_abnormal_pH_regulation | 0.28214206 |
| 88 | MP0006054_spinal_hemorrhage | 0.27665519 |
| 89 | MP0000537_abnormal_urethra_morphology | 0.26908783 |
| 90 | MP0005666_abnormal_adipose_tissue | 0.25054750 |
| 91 | MP0002139_abnormal_hepatobiliary_system | 0.23941578 |
| 92 | MP0009672_abnormal_birth_weight | 0.23220686 |
| 93 | MP0009703_decreased_birth_body | 0.23057300 |
| 94 | MP0003879_abnormal_hair_cell | 0.22607394 |
| 95 | MP0001764_abnormal_homeostasis | 0.21880783 |
| 96 | MP0003861_abnormal_nervous_system | 0.21774914 |
| 97 | MP0004264_abnormal_extraembryonic_tissu | 0.21328559 |
| 98 | MP0008875_abnormal_xenobiotic_pharmacok | 0.20766472 |
| 99 | MP0004036_abnormal_muscle_relaxation | 0.19600391 |
| 100 | MP0001216_abnormal_epidermal_layer | 0.19433979 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal respiratory motile cilium physiology (HP:0012261) | 8.58064408 |
| 2 | Abnormal respiratory epithelium morphology (HP:0012253) | 7.61773324 |
| 3 | Abnormal respiratory motile cilium morphology (HP:0005938) | 7.61773324 |
| 4 | Rhinitis (HP:0012384) | 7.47693669 |
| 5 | Abnormal ciliary motility (HP:0012262) | 6.85980119 |
| 6 | Chronic bronchitis (HP:0004469) | 6.54963216 |
| 7 | Nasal polyposis (HP:0100582) | 6.13709264 |
| 8 | Infertility (HP:0000789) | 5.61239893 |
| 9 | Abnormality of the lower motor neuron (HP:0002366) | 5.19523176 |
| 10 | Abnormality of the nasal mucosa (HP:0000433) | 5.00069578 |
| 11 | Abnormal spermatogenesis (HP:0008669) | 4.60758359 |
| 12 | Azoospermia (HP:0000027) | 4.58574893 |
| 13 | Nephronophthisis (HP:0000090) | 4.57420014 |
| 14 | Gonadotropin excess (HP:0000837) | 4.37044323 |
| 15 | Bronchiectasis (HP:0002110) | 4.21525326 |
| 16 | Bronchitis (HP:0012387) | 4.09707143 |
| 17 | Amyotrophic lateral sclerosis (HP:0007354) | 3.79140012 |
| 18 | Fibular hypoplasia (HP:0003038) | 3.72299465 |
| 19 | 11 pairs of ribs (HP:0000878) | 3.68781388 |
| 20 | Male infertility (HP:0003251) | 3.42321229 |
| 21 | Abnormality of the renal medulla (HP:0100957) | 3.39770411 |
| 22 | Upper motor neuron abnormality (HP:0002127) | 3.23783779 |
| 23 | Recurrent otitis media (HP:0000403) | 3.05292435 |
| 24 | Recurrent sinusitis (HP:0011108) | 2.99755588 |
| 25 | Tubular atrophy (HP:0000092) | 2.91927872 |
| 26 | Abnormality of the anterior horn cell (HP:0006802) | 2.83118300 |
| 27 | Degeneration of anterior horn cells (HP:0002398) | 2.83118300 |
| 28 | Tubulointerstitial nephritis (HP:0001970) | 2.62052391 |
| 29 | Molar tooth sign on MRI (HP:0002419) | 2.61911908 |
| 30 | Abnormality of midbrain morphology (HP:0002418) | 2.61911908 |
| 31 | Impaired proprioception (HP:0010831) | 2.52725663 |
| 32 | Selective tooth agenesis (HP:0001592) | 2.49524001 |
| 33 | Recurrent bronchitis (HP:0002837) | 2.46203095 |
| 34 | Aplasia/Hypoplasia of the fibula (HP:0006492) | 2.44637319 |
| 35 | Tubulointerstitial abnormality (HP:0001969) | 2.42695339 |
| 36 | Renovascular hypertension (HP:0100817) | 2.33977290 |
| 37 | Spontaneous abortion (HP:0005268) | 2.33673268 |
| 38 | Large eyes (HP:0001090) | 2.30978214 |
| 39 | Postaxial foot polydactyly (HP:0001830) | 2.29599914 |
| 40 | Medial flaring of the eyebrow (HP:0010747) | 2.22576004 |
| 41 | Chronic sinusitis (HP:0011109) | 2.22324438 |
| 42 | Facial cleft (HP:0002006) | 2.15425086 |
| 43 | Impulsivity (HP:0100710) | 2.15333015 |
| 44 | Stage 5 chronic kidney disease (HP:0003774) | 2.14419337 |
| 45 | Microglossia (HP:0000171) | 2.13638282 |
| 46 | Tubulointerstitial fibrosis (HP:0005576) | 2.06649975 |
| 47 | Oculomotor apraxia (HP:0000657) | 2.02232927 |
| 48 | Missing ribs (HP:0000921) | 2.01990826 |
| 49 | Cone-shaped epiphyses of the phalanges of the hand (HP:0010230) | 2.00678167 |
| 50 | Short ribs (HP:0000773) | 2.00525769 |
| 51 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 12.4802806 |
| 52 | Absent/shortened dynein arms (HP:0200106) | 10.7984433 |
| 53 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 10.7984433 |
| 54 | Sensory axonal neuropathy (HP:0003390) | 1.98213872 |
| 55 | Median cleft lip (HP:0000161) | 1.93930533 |
| 56 | Abnormal gallbladder physiology (HP:0012438) | 1.90519414 |
| 57 | Cholecystitis (HP:0001082) | 1.90519414 |
| 58 | Hyperacusis (HP:0010780) | 1.88098545 |
| 59 | Abnormality of the renal cortex (HP:0011035) | 1.86999633 |
| 60 | Congenital hepatic fibrosis (HP:0002612) | 1.85398478 |
| 61 | Supernumerary spleens (HP:0009799) | 1.84984216 |
| 62 | Breast carcinoma (HP:0003002) | 1.84572758 |
| 63 | Renal dysplasia (HP:0000110) | 1.82026978 |
| 64 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.79468420 |
| 65 | Elfin facies (HP:0004428) | 1.79411571 |
| 66 | Hyporeflexia of lower limbs (HP:0002600) | 1.78074143 |
| 67 | Overriding aorta (HP:0002623) | 1.76709339 |
| 68 | Atrophy/Degeneration involving motor neurons (HP:0007373) | 1.76424769 |
| 69 | Conjunctival telangiectasia (HP:0000524) | 1.74840796 |
| 70 | Polydipsia (HP:0001959) | 1.66369012 |
| 71 | Abnormal drinking behavior (HP:0030082) | 1.66369012 |
| 72 | Heterotopia (HP:0002282) | 1.64010460 |
| 73 | Absent frontal sinuses (HP:0002688) | 1.63615994 |
| 74 | J-shaped sella turcica (HP:0002680) | 1.60478625 |
| 75 | Toxemia of pregnancy (HP:0100603) | 1.58380145 |
| 76 | Short thorax (HP:0010306) | 1.57472937 |
| 77 | Spastic tetraparesis (HP:0001285) | 1.57449716 |
| 78 | Insomnia (HP:0100785) | 1.52848148 |
| 79 | Postaxial hand polydactyly (HP:0001162) | 1.52373829 |
| 80 | Abnormality of dentin (HP:0010299) | 1.52169854 |
| 81 | Renal duplication (HP:0000075) | 1.50889773 |
| 82 | Tongue fasciculations (HP:0001308) | 1.49486899 |
| 83 | Abnormality of ocular smooth pursuit (HP:0000617) | 1.47428521 |
| 84 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.46001973 |
| 85 | Abnormal finger flexion creases (HP:0006143) | 1.42874910 |
| 86 | Pachygyria (HP:0001302) | 1.41498505 |
| 87 | Abnormality of the epiphyses of the phalanges of the hand (HP:0005920) | 1.40873532 |
| 88 | Flat cornea (HP:0007720) | 1.38883975 |
| 89 | Bile duct proliferation (HP:0001408) | 1.36618543 |
| 90 | Abnormal biliary tract physiology (HP:0012439) | 1.36618543 |
| 91 | Abnormality of permanent molar morphology (HP:0011071) | 1.36165789 |
| 92 | Abnormality of the dental root (HP:0006486) | 1.36165789 |
| 93 | Taurodontia (HP:0000679) | 1.36165789 |
| 94 | Abnormality of the carotid arteries (HP:0005344) | 1.34772727 |
| 95 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.34733837 |
| 96 | Absent epiphyses (HP:0010577) | 1.34733837 |
| 97 | Ridged nail (HP:0001807) | 1.34518018 |
| 98 | Abnormality of molar morphology (HP:0011070) | 1.34325692 |
| 99 | Abnormality of molar (HP:0011077) | 1.34325692 |
| 100 | Abnormality involving the epiphyses of the upper limbs (HP:0003839) | 1.34285462 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK3 | 9.33028840 |
| 2 | PDK4 | 9.33028840 |
| 3 | PDK2 | 6.01243385 |
| 4 | TESK1 | 3.63577291 |
| 5 | ICK | 2.50057139 |
| 6 | PRKD3 | 2.49714609 |
| 7 | PTK2B | 2.26584757 |
| 8 | NEK2 | 2.13244788 |
| 9 | CDC7 | 2.06996341 |
| 10 | WNK4 | 1.96495228 |
| 11 | STK39 | 1.80275347 |
| 12 | PNCK | 1.63005988 |
| 13 | WEE1 | 1.61684022 |
| 14 | ACVR1B | 1.22615363 |
| 15 | STK3 | 1.22409368 |
| 16 | CDK12 | 1.04723453 |
| 17 | WNK1 | 1.02082290 |
| 18 | TYRO3 | 1.01117662 |
| 19 | STK38 | 0.97946375 |
| 20 | ATR | 0.95023313 |
| 21 | CCNB1 | 0.93349747 |
| 22 | TTK | 0.91438252 |
| 23 | MAPK15 | 0.89635790 |
| 24 | CHEK1 | 0.87634170 |
| 25 | DYRK3 | 0.75685252 |
| 26 | MST1R | 0.75487039 |
| 27 | PASK | 0.71903493 |
| 28 | PDK1 | 0.69803319 |
| 29 | BRSK2 | 0.69192968 |
| 30 | PLK1 | 0.63657806 |
| 31 | CHEK2 | 0.63136965 |
| 32 | DYRK1B | 0.60899216 |
| 33 | BMPR1B | 0.58820174 |
| 34 | ATM | 0.53507863 |
| 35 | PLK4 | 0.53200627 |
| 36 | STK38L | 0.47531140 |
| 37 | LMTK2 | 0.45028010 |
| 38 | WNK3 | 0.42516106 |
| 39 | MTOR | 0.42362688 |
| 40 | GRK1 | 0.41328924 |
| 41 | CDK7 | 0.41068828 |
| 42 | PINK1 | 0.38184785 |
| 43 | SRPK1 | 0.38115039 |
| 44 | MAP3K9 | 0.35219861 |
| 45 | IRAK1 | 0.35179627 |
| 46 | PDGFRB | 0.32955426 |
| 47 | MET | 0.29905144 |
| 48 | YES1 | 0.26674309 |
| 49 | AURKB | 0.26148099 |
| 50 | BRSK1 | 0.24581203 |
| 51 | TAOK1 | 0.22973524 |
| 52 | CDK4 | 0.22386996 |
| 53 | EIF2AK1 | 0.21574480 |
| 54 | CDK2 | 0.20891304 |
| 55 | MAP3K4 | 0.20883372 |
| 56 | MAP3K3 | 0.20623284 |
| 57 | CDK1 | 0.20113702 |
| 58 | PAK1 | 0.19129427 |
| 59 | ZAP70 | 0.18897428 |
| 60 | PRKAA1 | 0.18857826 |
| 61 | BUB1 | 0.18071100 |
| 62 | TYK2 | 0.17031720 |
| 63 | EEF2K | 0.16496967 |
| 64 | PAK2 | 0.16139865 |
| 65 | STK4 | 0.15587399 |
| 66 | RPS6KB1 | 0.12324079 |
| 67 | CSNK2A1 | 0.11668662 |
| 68 | EGFR | 0.11261954 |
| 69 | MAP2K7 | 0.11249134 |
| 70 | STK10 | 0.11112407 |
| 71 | EPHA2 | 0.10879313 |
| 72 | TESK2 | 0.10319950 |
| 73 | PDPK1 | 0.09950049 |
| 74 | PRKDC | 0.09423506 |
| 75 | RIPK1 | 0.09385803 |
| 76 | MAPK8 | 0.08964685 |
| 77 | CSF1R | 0.08769693 |
| 78 | CSNK2A2 | 0.08262111 |
| 79 | PAK4 | 0.06450334 |
| 80 | PRKCI | 0.06063036 |
| 81 | MARK3 | 0.05659221 |
| 82 | PRKCG | 0.05170223 |
| 83 | GSK3B | 0.05163237 |
| 84 | MAPK10 | 0.05045650 |
| 85 | AURKA | 0.04127904 |
| 86 | MAP3K10 | 0.03988504 |
| 87 | STK16 | 0.03979202 |
| 88 | NEK1 | 0.02552953 |
| 89 | ABL1 | 0.02002701 |
| 90 | CSNK1D | 0.01988079 |
| 91 | PIM1 | 0.01975567 |
| 92 | PTK6 | 0.01355598 |
| 93 | MAP3K5 | 0.01259636 |
| 94 | BRD4 | 0.00715909 |
| 95 | PRKACB | 0.00575360 |
| 96 | INSR | 0.00312722 |
| 97 | CDK6 | -0.0098937 |
| 98 | CDK9 | -0.0015639 |
| 99 | MAP3K6 | -0.0006784 |
| 100 | MAPK1 | -0.0003910 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 4.40053660 |
| 2 | Basal transcription factors_Homo sapiens_hsa03022 | 3.52857955 |
| 3 | Pyruvate metabolism_Homo sapiens_hsa00620 | 3.49631371 |
| 4 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 3.39144468 |
| 5 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 3.37153631 |
| 6 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 3.27063679 |
| 7 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 3.19954011 |
| 8 | Homologous recombination_Homo sapiens_hsa03440 | 2.94647125 |
| 9 | Selenocompound metabolism_Homo sapiens_hsa00450 | 2.88753590 |
| 10 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 2.48801944 |
| 11 | RNA transport_Homo sapiens_hsa03013 | 2.45148221 |
| 12 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 2.21526974 |
| 13 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.17050590 |
| 14 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 2.14591991 |
| 15 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 2.10688339 |
| 16 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 2.09182259 |
| 17 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.95539872 |
| 18 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.93959585 |
| 19 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 1.91597832 |
| 20 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.74971790 |
| 21 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.71232582 |
| 22 | Huntingtons disease_Homo sapiens_hsa05016 | 1.65102596 |
| 23 | Carbon metabolism_Homo sapiens_hsa01200 | 1.64391080 |
| 24 | Proteasome_Homo sapiens_hsa03050 | 1.57556221 |
| 25 | DNA replication_Homo sapiens_hsa03030 | 1.53535989 |
| 26 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.49286300 |
| 27 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 1.48594837 |
| 28 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.47014325 |
| 29 | Cell cycle_Homo sapiens_hsa04110 | 1.46914165 |
| 30 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 1.30074278 |
| 31 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.28758921 |
| 32 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.17566624 |
| 33 | Mismatch repair_Homo sapiens_hsa03430 | 1.11906561 |
| 34 | Purine metabolism_Homo sapiens_hsa00230 | 1.09660880 |
| 35 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.09212314 |
| 36 | Spliceosome_Homo sapiens_hsa03040 | 1.09039734 |
| 37 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.08619970 |
| 38 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.04531674 |
| 39 | RNA degradation_Homo sapiens_hsa03018 | 1.03433304 |
| 40 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.99315221 |
| 41 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.97643990 |
| 42 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.95168226 |
| 43 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.94709961 |
| 44 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.94599335 |
| 45 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.91330985 |
| 46 | Base excision repair_Homo sapiens_hsa03410 | 0.88806996 |
| 47 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.88471343 |
| 48 | Mineral absorption_Homo sapiens_hsa04978 | 0.87847795 |
| 49 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.87247063 |
| 50 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.85161891 |
| 51 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.82258947 |
| 52 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.77412763 |
| 53 | ABC transporters_Homo sapiens_hsa02010 | 0.74110217 |
| 54 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.70196797 |
| 55 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.64065666 |
| 56 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.63975985 |
| 57 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.63349725 |
| 58 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.63269159 |
| 59 | Legionellosis_Homo sapiens_hsa05134 | 0.62596064 |
| 60 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.61441457 |
| 61 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.61283285 |
| 62 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.60119236 |
| 63 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.52459396 |
| 64 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.52273313 |
| 65 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.52258147 |
| 66 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.51829784 |
| 67 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.51643609 |
| 68 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.51096855 |
| 69 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.48814425 |
| 70 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.47187020 |
| 71 | Renin secretion_Homo sapiens_hsa04924 | 0.46846857 |
| 72 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.46272489 |
| 73 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.42254591 |
| 74 | Lysine degradation_Homo sapiens_hsa00310 | 0.42237274 |
| 75 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.40228591 |
| 76 | Metabolic pathways_Homo sapiens_hsa01100 | 0.39744722 |
| 77 | Influenza A_Homo sapiens_hsa05164 | 0.37866607 |
| 78 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.37255644 |
| 79 | HTLV-I infection_Homo sapiens_hsa05166 | 0.32778439 |
| 80 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.31975314 |
| 81 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.31932862 |
| 82 | Retinol metabolism_Homo sapiens_hsa00830 | 0.28876191 |
| 83 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.27187874 |
| 84 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.26377381 |
| 85 | Endocytosis_Homo sapiens_hsa04144 | 0.26224921 |
| 86 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.25141626 |
| 87 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.24842926 |
| 88 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.24225490 |
| 89 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.23619895 |
| 90 | Alcoholism_Homo sapiens_hsa05034 | 0.22819226 |
| 91 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.22293533 |
| 92 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.21783623 |
| 93 | RNA polymerase_Homo sapiens_hsa03020 | 0.15901582 |
| 94 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.12868192 |
| 95 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.12813867 |
| 96 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.12123000 |
| 97 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 0.11572222 |
| 98 | Long-term potentiation_Homo sapiens_hsa04720 | 0.11328610 |
| 99 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.10782689 |
| 100 | Salmonella infection_Homo sapiens_hsa05132 | 0.08449742 |

