

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | acrosome reaction (GO:0007340) | 8.47677044 |
| 2 | DNA packaging (GO:0006323) | 8.15383206 |
| 3 | chromosome condensation (GO:0030261) | 8.15026608 |
| 4 | fusion of sperm to egg plasma membrane (GO:0007342) | 8.07351661 |
| 5 | sperm motility (GO:0030317) | 7.97512347 |
| 6 | male meiosis I (GO:0007141) | 7.32606353 |
| 7 | ribosome assembly (GO:0042255) | 7.10786420 |
| 8 | synapsis (GO:0007129) | 6.97532661 |
| 9 | rRNA methylation (GO:0031167) | 6.90617157 |
| 10 | microtubule depolymerization (GO:0007019) | 6.90336173 |
| 11 | spermatid development (GO:0007286) | 6.84109676 |
| 12 | binding of sperm to zona pellucida (GO:0007339) | 6.61785694 |
| 13 | rRNA modification (GO:0000154) | 6.43714008 |
| 14 | sperm-egg recognition (GO:0035036) | 6.34310682 |
| 15 | sperm capacitation (GO:0048240) | 6.32539862 |
| 16 | spermatid nucleus differentiation (GO:0007289) | 6.25522122 |
| 17 | chromosome organization involved in meiosis (GO:0070192) | 6.08510145 |
| 18 | piRNA metabolic process (GO:0034587) | 6.06901046 |
| 19 | negative regulation of inclusion body assembly (GO:0090084) | 6.04448820 |
| 20 | DNA methylation involved in gamete generation (GO:0043046) | 6.02717184 |
| 21 | plasma membrane fusion (GO:0045026) | 6.01838331 |
| 22 | male meiosis (GO:0007140) | 5.99225557 |
| 23 | meiosis I (GO:0007127) | 5.93427574 |
| 24 | synaptonemal complex assembly (GO:0007130) | 5.65104891 |
| 25 | response to pheromone (GO:0019236) | 5.62481030 |
| 26 | microtubule polymerization or depolymerization (GO:0031109) | 5.23156867 |
| 27 | spermatogenesis (GO:0007283) | 5.14746164 |
| 28 | male gamete generation (GO:0048232) | 5.13824962 |
| 29 | single strand break repair (GO:0000012) | 5.09721431 |
| 30 | cell-cell recognition (GO:0009988) | 5.08533901 |
| 31 | histone H3-K9 demethylation (GO:0033169) | 5.07293192 |
| 32 | meiotic nuclear division (GO:0007126) | 4.98922006 |
| 33 | synaptonemal complex organization (GO:0070193) | 4.98253787 |
| 34 | sexual reproduction (GO:0019953) | 4.82382721 |
| 35 | gamete generation (GO:0007276) | 4.79781654 |
| 36 | multicellular organism reproduction (GO:0032504) | 4.63861240 |
| 37 | calcium ion-dependent exocytosis (GO:0017156) | 4.62226115 |
| 38 | DNA synthesis involved in DNA repair (GO:0000731) | 4.56997963 |
| 39 | negative regulation of retinoic acid receptor signaling pathway (GO:0048387) | 4.51889919 |
| 40 | reproduction (GO:0000003) | 4.51577421 |
| 41 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 4.38739795 |
| 42 | regulation of inclusion body assembly (GO:0090083) | 4.28140943 |
| 43 | protein polyglutamylation (GO:0018095) | 4.19161014 |
| 44 | meiotic cell cycle process (GO:1903046) | 4.18449041 |
| 45 | regulation of cilium movement (GO:0003352) | 4.17597732 |
| 46 | microtubule severing (GO:0051013) | 4.09072287 |
| 47 | centriole assembly (GO:0098534) | 4.08947245 |
| 48 | germ cell development (GO:0007281) | 4.07979306 |
| 49 | nuclear pore complex assembly (GO:0051292) | 4.06895147 |
| 50 | resolution of meiotic recombination intermediates (GO:0000712) | 4.05796920 |
| 51 | motile cilium assembly (GO:0044458) | 4.03005121 |
| 52 | phosphatidylethanolamine metabolic process (GO:0046337) | 3.98964809 |
| 53 | centriole replication (GO:0007099) | 3.98025880 |
| 54 | cellular ketone body metabolic process (GO:0046950) | 3.89135026 |
| 55 | regulation of microtubule-based movement (GO:0060632) | 3.88146832 |
| 56 | regulation of retinoic acid receptor signaling pathway (GO:0048385) | 3.85393774 |
| 57 | multicellular organismal reproductive process (GO:0048609) | 3.84254127 |
| 58 | chaperone-mediated protein complex assembly (GO:0051131) | 3.75398068 |
| 59 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.73660379 |
| 60 | nucleus organization (GO:0006997) | 3.66577529 |
| 61 | axonemal dynein complex assembly (GO:0070286) | 3.62305076 |
| 62 | histone exchange (GO:0043486) | 3.58448258 |
| 63 | regulation of centriole replication (GO:0046599) | 3.58209157 |
| 64 | fertilization (GO:0009566) | 3.52161579 |
| 65 | protein-DNA complex disassembly (GO:0032986) | 3.43704139 |
| 66 | nucleosome disassembly (GO:0006337) | 3.43704139 |
| 67 | negative regulation of gene silencing (GO:0060969) | 3.39630517 |
| 68 | ketone body metabolic process (GO:1902224) | 3.39388476 |
| 69 | nuclear pore organization (GO:0006999) | 3.37831872 |
| 70 | protein targeting to Golgi (GO:0000042) | 3.37479167 |
| 71 | DNA conformation change (GO:0071103) | 3.35468050 |
| 72 | regulation of histone H3-K27 methylation (GO:0061085) | 3.30601622 |
| 73 | RNA methylation (GO:0001510) | 3.20998111 |
| 74 | gas transport (GO:0015669) | 3.20467748 |
| 75 | chromatin silencing (GO:0006342) | 3.18008999 |
| 76 | single fertilization (GO:0007338) | 3.17493729 |
| 77 | establishment of protein localization to Golgi (GO:0072600) | 3.14427630 |
| 78 | meiotic chromosome segregation (GO:0045132) | 3.09328065 |
| 79 | polyamine biosynthetic process (GO:0006596) | 3.05636777 |
| 80 | cell wall macromolecule catabolic process (GO:0016998) | 3.05328968 |
| 81 | regulation of meiosis I (GO:0060631) | 3.04762736 |
| 82 | tRNA methylation (GO:0030488) | 3.04239029 |
| 83 | oxygen transport (GO:0015671) | 3.01648164 |
| 84 | regulation of histone H3-K9 methylation (GO:0051570) | 2.99240938 |
| 85 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 2.94151147 |
| 86 | pore complex assembly (GO:0046931) | 2.91645638 |
| 87 | negative regulation of histone methylation (GO:0031061) | 2.89830587 |
| 88 | chromosome organization (GO:0051276) | 2.84202235 |
| 89 | protein refolding (GO:0042026) | 2.81784370 |
| 90 | histone H4 deacetylation (GO:0070933) | 2.80245195 |
| 91 | organic cation transport (GO:0015695) | 2.78635123 |
| 92 | muscle organ morphogenesis (GO:0048644) | 2.76486763 |
| 93 | mitotic chromosome condensation (GO:0007076) | 2.75938494 |
| 94 | gene silencing (GO:0016458) | 2.75204137 |
| 95 | sister chromatid cohesion (GO:0007062) | 2.74361307 |
| 96 | coenzyme catabolic process (GO:0009109) | 2.72287308 |
| 97 | cilium or flagellum-dependent cell motility (GO:0001539) | 2.72237543 |
| 98 | peptidyl-threonine dephosphorylation (GO:0035970) | 2.71597373 |
| 99 | proteasome assembly (GO:0043248) | 2.70563597 |
| 100 | somite rostral/caudal axis specification (GO:0032525) | 2.69393670 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 6.38065549 |
| 2 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 3.75744615 |
| 3 | E2F7_22180533_ChIP-Seq_HELA_Human | 3.29444979 |
| 4 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 2.91906020 |
| 5 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.70767388 |
| 6 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 2.55284492 |
| 7 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.42800170 |
| 8 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 2.41851716 |
| 9 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 2.11814277 |
| 10 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 2.06298307 |
| 11 | P68_20966046_ChIP-Seq_HELA_Human | 2.03982451 |
| 12 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 2.03847041 |
| 13 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 1.92728391 |
| 14 | ERA_21632823_ChIP-Seq_H3396_Human | 1.88425940 |
| 15 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.87759435 |
| 16 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.87528784 |
| 17 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 1.87478248 |
| 18 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.81860339 |
| 19 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.79409773 |
| 20 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.77337755 |
| 21 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 1.73036807 |
| 22 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.72090295 |
| 23 | NCOR1_26117541_ChIP-Seq_K562_Human | 1.69092958 |
| 24 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.66061135 |
| 25 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.63678485 |
| 26 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.63231539 |
| 27 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.62704439 |
| 28 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.62214371 |
| 29 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 1.60949527 |
| 30 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 1.52459361 |
| 31 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.50239989 |
| 32 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.44684534 |
| 33 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 1.43186276 |
| 34 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.41754466 |
| 35 | P300_27268052_Chip-Seq_Bcells_Human | 1.40842991 |
| 36 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 1.37744249 |
| 37 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.36918796 |
| 38 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.36533026 |
| 39 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 1.35484770 |
| 40 | XRN2_22483619_ChIP-Seq_HELA_Human | 1.35444621 |
| 41 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.34136016 |
| 42 | FOXP1_21924763_ChIP-Seq_HESCs_Human | 1.32102165 |
| 43 | KDM5A_27292631_Chip-Seq_BREAST_Human | 1.31144728 |
| 44 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.30315366 |
| 45 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.27665618 |
| 46 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.27427138 |
| 47 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 1.27057420 |
| 48 | CTCF_21964334_Chip-Seq_Bcells_Human | 1.25045363 |
| 49 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.24473366 |
| 50 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 1.24354800 |
| 51 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.24252934 |
| 52 | SA1_27219007_Chip-Seq_Bcells_Human | 1.24170457 |
| 53 | DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 1.23494363 |
| 54 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.23248277 |
| 55 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 1.23030100 |
| 56 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 1.22794208 |
| 57 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.22113966 |
| 58 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.21623623 |
| 59 | ZNF263_19887448_ChIP-Seq_K562_Human | 1.21547138 |
| 60 | CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.20358120 |
| 61 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.19682692 |
| 62 | SIN3A_21632747_ChIP-Seq_MESCs_Mouse | 1.19490900 |
| 63 | CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat | 1.19339972 |
| 64 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 1.19018409 |
| 65 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.18484168 |
| 66 | GABP_19822575_ChIP-Seq_HepG2_Human | 1.17841898 |
| 67 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 1.17749922 |
| 68 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.17048304 |
| 69 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.16256109 |
| 70 | RARA_24833708_ChIP-Seq_LIVER_Mouse | 1.16158241 |
| 71 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.16020887 |
| 72 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.14892581 |
| 73 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 1.14739856 |
| 74 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.14100271 |
| 75 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 1.13601788 |
| 76 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 1.13461954 |
| 77 | GATA1_19941826_ChIP-Seq_K562_Human | 1.12564943 |
| 78 | RUNX1_27514584_Chip-Seq_MCF-7_Human | 1.12467698 |
| 79 | KLF4_18555785_ChIP-Seq_MESCs_Mouse | 1.12320300 |
| 80 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.11801265 |
| 81 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.07875597 |
| 82 | BCL3_23251550_ChIP-Seq_MUSCLE_Mouse | 1.07306174 |
| 83 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.07202579 |
| 84 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.05118210 |
| 85 | FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.04624687 |
| 86 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.04232258 |
| 87 | PKCTHETA_26484144_Chip-Seq_BREAST_Human | 1.04187396 |
| 88 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.03573812 |
| 89 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 1.03480965 |
| 90 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.02812727 |
| 91 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 1.02253068 |
| 92 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.01509102 |
| 93 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 0.99285687 |
| 94 | ESR1_15608294_ChIP-ChIP_MCF-7_Human | 0.98164916 |
| 95 | DCP1A_22483619_ChIP-Seq_HELA_Human | 0.97568729 |
| 96 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 0.97543857 |
| 97 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 0.97380720 |
| 98 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 0.96676998 |
| 99 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 0.96649119 |
| 100 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 0.95481733 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 9.35465118 |
| 2 | MP0003698_abnormal_male_reproductive | 4.43858167 |
| 3 | MP0001929_abnormal_gametogenesis | 4.37516163 |
| 4 | MP0000678_abnormal_parathyroid_gland | 3.71978115 |
| 5 | MP0005377_hearing/vestibular/ear_phenot | 3.58931895 |
| 6 | MP0003878_abnormal_ear_physiology | 3.58931895 |
| 7 | MP0002210_abnormal_sex_determination | 3.26873615 |
| 8 | MP0005670_abnormal_white_adipose | 3.12084353 |
| 9 | MP0003718_maternal_effect | 3.11172540 |
| 10 | MP0008877_abnormal_DNA_methylation | 3.05908624 |
| 11 | MP0002161_abnormal_fertility/fecundity | 2.67856937 |
| 12 | MP0001145_abnormal_male_reproductive | 2.52354717 |
| 13 | MP0008058_abnormal_DNA_repair | 2.40633368 |
| 14 | MP0008995_early_reproductive_senescence | 2.40496557 |
| 15 | MP0000653_abnormal_sex_gland | 2.34036484 |
| 16 | MP0003693_abnormal_embryo_hatching | 2.22566951 |
| 17 | MP0002132_abnormal_respiratory_system | 2.12215368 |
| 18 | MP0005083_abnormal_biliary_tract | 2.07488649 |
| 19 | MP0004957_abnormal_blastocyst_morpholog | 2.02391819 |
| 20 | MP0003077_abnormal_cell_cycle | 1.87650601 |
| 21 | MP0002249_abnormal_larynx_morphology | 1.75093002 |
| 22 | MP0001348_abnormal_lacrimal_gland | 1.70074623 |
| 23 | MP0003646_muscle_fatigue | 1.65052986 |
| 24 | MP0010234_abnormal_vibrissa_follicle | 1.59143021 |
| 25 | MP0005451_abnormal_body_composition | 1.58395932 |
| 26 | MP0004233_abnormal_muscle_weight | 1.53396312 |
| 27 | MP0003111_abnormal_nucleus_morphology | 1.44419147 |
| 28 | MP0005310_abnormal_salivary_gland | 1.39878658 |
| 29 | MP0003786_premature_aging | 1.39129872 |
| 30 | MP0003699_abnormal_female_reproductive | 1.33518132 |
| 31 | MP0009697_abnormal_copulation | 1.32629221 |
| 32 | MP0005423_abnormal_somatic_nervous | 1.32106282 |
| 33 | MP0005395_other_phenotype | 1.25536031 |
| 34 | MP0010094_abnormal_chromosome_stability | 1.23326745 |
| 35 | MP0006036_abnormal_mitochondrial_physio | 1.19653876 |
| 36 | MP0003011_delayed_dark_adaptation | 1.18536963 |
| 37 | MP0002234_abnormal_pharynx_morphology | 1.15513596 |
| 38 | MP0000681_abnormal_thyroid_gland | 1.14980233 |
| 39 | MP0004019_abnormal_vitamin_homeostasis | 1.13621099 |
| 40 | MP0000372_irregular_coat_pigmentation | 1.13216641 |
| 41 | MP0002160_abnormal_reproductive_system | 1.12240308 |
| 42 | MP0002796_impaired_skin_barrier | 1.09070578 |
| 43 | MP0006035_abnormal_mitochondrial_morpho | 1.03270507 |
| 44 | MP0008932_abnormal_embryonic_tissue | 1.02946386 |
| 45 | MP0001666_abnormal_nutrient_absorption | 1.02929398 |
| 46 | MP0005636_abnormal_mineral_homeostasis | 1.01024587 |
| 47 | MP0003936_abnormal_reproductive_system | 0.96749899 |
| 48 | MP0004264_abnormal_extraembryonic_tissu | 0.95859652 |
| 49 | MP0005408_hypopigmentation | 0.93220936 |
| 50 | MP0000313_abnormal_cell_death | 0.91604570 |
| 51 | MP0004147_increased_porphyrin_level | 0.91173367 |
| 52 | MP0001672_abnormal_embryogenesis/_devel | 0.90539970 |
| 53 | MP0005380_embryogenesis_phenotype | 0.90539970 |
| 54 | MP0001730_embryonic_growth_arrest | 0.90414176 |
| 55 | MP0001119_abnormal_female_reproductive | 0.89580465 |
| 56 | MP0001765_abnormal_ion_homeostasis | 0.86086164 |
| 57 | MP0002080_prenatal_lethality | 0.85890833 |
| 58 | MP0008007_abnormal_cellular_replicative | 0.82522732 |
| 59 | MP0001188_hyperpigmentation | 0.81483179 |
| 60 | MP0000350_abnormal_cell_proliferation | 0.80416166 |
| 61 | MP0001697_abnormal_embryo_size | 0.79267151 |
| 62 | MP0000358_abnormal_cell_content/ | 0.77737256 |
| 63 | MP0001764_abnormal_homeostasis | 0.76179606 |
| 64 | MP0002085_abnormal_embryonic_tissue | 0.74813305 |
| 65 | MP0006292_abnormal_olfactory_placode | 0.73640855 |
| 66 | MP0008789_abnormal_olfactory_epithelium | 0.73360613 |
| 67 | MP0005666_abnormal_adipose_tissue | 0.72893655 |
| 68 | MP0002282_abnormal_trachea_morphology | 0.71425230 |
| 69 | MP0010307_abnormal_tumor_latency | 0.68098467 |
| 70 | MP0002269_muscular_atrophy | 0.67766675 |
| 71 | MP0002127_abnormal_cardiovascular_syste | 0.64936155 |
| 72 | MP0001881_abnormal_mammary_gland | 0.64716811 |
| 73 | MP0005365_abnormal_bile_salt | 0.64445339 |
| 74 | MP0003806_abnormal_nucleotide_metabolis | 0.63418566 |
| 75 | MP0005647_abnormal_sex_gland | 0.62795259 |
| 76 | MP0005389_reproductive_system_phenotype | 0.61240085 |
| 77 | MP0002084_abnormal_developmental_patter | 0.61226845 |
| 78 | MP0003984_embryonic_growth_retardation | 0.59711309 |
| 79 | MP0003879_abnormal_hair_cell | 0.59334753 |
| 80 | MP0005397_hematopoietic_system_phenotyp | 0.58813450 |
| 81 | MP0001545_abnormal_hematopoietic_system | 0.58813450 |
| 82 | MP0008057_abnormal_DNA_replication | 0.57364395 |
| 83 | MP0003186_abnormal_redox_activity | 0.56917538 |
| 84 | MP0002088_abnormal_embryonic_growth/wei | 0.56546066 |
| 85 | MP0002229_neurodegeneration | 0.56330394 |
| 86 | MP0000534_abnormal_ureter_morphology | 0.56047543 |
| 87 | MP0005499_abnormal_olfactory_system | 0.51270320 |
| 88 | MP0005394_taste/olfaction_phenotype | 0.51270320 |
| 89 | MP0004782_abnormal_surfactant_physiolog | 0.51023160 |
| 90 | MP0001661_extended_life_span | 0.50933377 |
| 91 | MP0002653_abnormal_ependyma_morphology | 0.50098640 |
| 92 | MP0000647_abnormal_sebaceous_gland | 0.48881891 |
| 93 | MP0002086_abnormal_extraembryonic_tissu | 0.47938890 |
| 94 | MP0004085_abnormal_heartbeat | 0.47273952 |
| 95 | MP0001968_abnormal_touch/_nociception | 0.47258379 |
| 96 | MP0003942_abnormal_urinary_system | 0.45976105 |
| 97 | MP0008770_decreased_survivor_rate | 0.45861515 |
| 98 | MP0005332_abnormal_amino_acid | 0.45837263 |
| 99 | MP0005058_abnormal_lysosome_morphology | 0.45008402 |
| 100 | MP0002139_abnormal_hepatobiliary_system | 0.44444725 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 6.17939839 |
| 2 | Tubulointerstitial nephritis (HP:0001970) | 5.14697362 |
| 3 | Azoospermia (HP:0000027) | 4.92566646 |
| 4 | Male infertility (HP:0003251) | 4.32287569 |
| 5 | Abnormal spermatogenesis (HP:0008669) | 4.11477329 |
| 6 | Hyperthyroidism (HP:0000836) | 4.02333747 |
| 7 | Truncus arteriosus (HP:0001660) | 3.89492836 |
| 8 | Hyperkalemia (HP:0002153) | 3.81779869 |
| 9 | Resting tremor (HP:0002322) | 3.77946254 |
| 10 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.74053192 |
| 11 | Hypoparathyroidism (HP:0000829) | 3.63541741 |
| 12 | Bell-shaped thorax (HP:0001591) | 3.59799758 |
| 13 | Absent/shortened dynein arms (HP:0200106) | 3.51210072 |
| 14 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 3.51210072 |
| 15 | Infertility (HP:0000789) | 3.46683674 |
| 16 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.39258084 |
| 17 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.30524778 |
| 18 | Seborrheic dermatitis (HP:0001051) | 3.08174610 |
| 19 | Reticulocytosis (HP:0001923) | 3.05062857 |
| 20 | Bowel incontinence (HP:0002607) | 3.04629876 |
| 21 | Abnormality of the aortic arch (HP:0012303) | 3.04258065 |
| 22 | Flattened epiphyses (HP:0003071) | 2.94319352 |
| 23 | Attenuation of retinal blood vessels (HP:0007843) | 2.93797680 |
| 24 | Atelectasis (HP:0100750) | 2.87214442 |
| 25 | Abnormal large intestine physiology (HP:0012700) | 2.86862156 |
| 26 | Abnormality of macular pigmentation (HP:0008002) | 2.84236480 |
| 27 | Generalized aminoaciduria (HP:0002909) | 2.79841754 |
| 28 | Nasal polyposis (HP:0100582) | 2.60977868 |
| 29 | Abnormality of the heme biosynthetic pathway (HP:0010472) | 2.58445715 |
| 30 | Unilateral renal agenesis (HP:0000122) | 2.57710412 |
| 31 | Hypertensive crisis (HP:0100735) | 2.55977228 |
| 32 | Abnormal respiratory motile cilium physiology (HP:0012261) | 2.51060903 |
| 33 | Abnormal gallbladder physiology (HP:0012438) | 2.48909694 |
| 34 | Cholecystitis (HP:0001082) | 2.48909694 |
| 35 | Congenital malformation of the right heart (HP:0011723) | 2.47604653 |
| 36 | Double outlet right ventricle (HP:0001719) | 2.47604653 |
| 37 | Abnormal ciliary motility (HP:0012262) | 2.41707597 |
| 38 | Osteomalacia (HP:0002749) | 2.41600582 |
| 39 | Pili torti (HP:0003777) | 2.38858744 |
| 40 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.36224155 |
| 41 | Amelogenesis imperfecta (HP:0000705) | 2.35606188 |
| 42 | Hand muscle atrophy (HP:0009130) | 2.35161305 |
| 43 | Tetany (HP:0001281) | 2.33825526 |
| 44 | Enlarged epiphyses (HP:0010580) | 2.32758772 |
| 45 | Upper limb muscle weakness (HP:0003484) | 2.31442566 |
| 46 | Hyponatremia (HP:0002902) | 2.30158458 |
| 47 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 2.29061048 |
| 48 | Abnormal respiratory epithelium morphology (HP:0012253) | 2.28543605 |
| 49 | Abnormal respiratory motile cilium morphology (HP:0005938) | 2.28543605 |
| 50 | Renal Fanconi syndrome (HP:0001994) | 2.27924749 |
| 51 | Renal dysplasia (HP:0000110) | 2.27829491 |
| 52 | Abnormality of reticulocytes (HP:0004312) | 2.27111176 |
| 53 | Abnormality of the parathyroid morphology (HP:0011766) | 2.21209695 |
| 54 | Cone-rod dystrophy (HP:0000548) | 2.20143584 |
| 55 | Ileus (HP:0002595) | 2.10679818 |
| 56 | Tinnitus (HP:0000360) | 2.09790393 |
| 57 | Facial shape deformation (HP:0011334) | 2.09752411 |
| 58 | Potter facies (HP:0002009) | 2.09752411 |
| 59 | Abnormality of lateral ventricle (HP:0030047) | 2.08383707 |
| 60 | Abnormality of the tricuspid valve (HP:0001702) | 2.07848398 |
| 61 | Abnormality of chloride homeostasis (HP:0011422) | 2.05156649 |
| 62 | Horizontal nystagmus (HP:0000666) | 2.03321831 |
| 63 | Abnormal hemoglobin (HP:0011902) | 2.03025685 |
| 64 | Impulsivity (HP:0100710) | 2.00331510 |
| 65 | Spontaneous abortion (HP:0005268) | 1.98070069 |
| 66 | Abnormality of the nasal mucosa (HP:0000433) | 1.97622540 |
| 67 | Aplasia/Hypoplasia of the thymus (HP:0010515) | 1.93484187 |
| 68 | Duodenal stenosis (HP:0100867) | 1.91967934 |
| 69 | Small intestinal stenosis (HP:0012848) | 1.91967934 |
| 70 | Chronic hepatic failure (HP:0100626) | 1.90696830 |
| 71 | Cholelithiasis (HP:0001081) | 1.90678798 |
| 72 | Hypoplastic left heart (HP:0004383) | 1.88358835 |
| 73 | Postural instability (HP:0002172) | 1.84886693 |
| 74 | Hypoplasia of the thymus (HP:0000778) | 1.83235739 |
| 75 | Glycosuria (HP:0003076) | 1.82998242 |
| 76 | Abnormality of urine glucose concentration (HP:0011016) | 1.82998242 |
| 77 | Obsessive-compulsive behavior (HP:0000722) | 1.82890678 |
| 78 | Abnormality of potassium homeostasis (HP:0011042) | 1.82072669 |
| 79 | Progressive sensorineural hearing impairment (HP:0000408) | 1.80407392 |
| 80 | Asymmetric septal hypertrophy (HP:0001670) | 1.79911079 |
| 81 | Hypoplastic ischia (HP:0003175) | 1.79445469 |
| 82 | Spastic paraparesis (HP:0002313) | 1.79197268 |
| 83 | Stage 5 chronic kidney disease (HP:0003774) | 1.78103650 |
| 84 | Cerebral hypomyelination (HP:0006808) | 1.76511863 |
| 85 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 1.72627174 |
| 86 | Distal upper limb amyotrophy (HP:0007149) | 1.72120733 |
| 87 | Upper limb amyotrophy (HP:0009129) | 1.72120733 |
| 88 | Increased purine levels (HP:0004368) | 1.71984945 |
| 89 | Hyperuricemia (HP:0002149) | 1.71984945 |
| 90 | Progressive hearing impairment (HP:0001730) | 1.71841031 |
| 91 | Abnormality of the gallbladder (HP:0005264) | 1.71248450 |
| 92 | Peripheral hypomyelination (HP:0007182) | 1.71093380 |
| 93 | Insulin-resistant diabetes mellitus (HP:0000831) | 1.70784049 |
| 94 | Subcapsular cataract (HP:0000523) | 1.70735229 |
| 95 | Abnormality of dental color (HP:0011073) | 1.69609145 |
| 96 | Truncal obesity (HP:0001956) | 1.68693266 |
| 97 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.67977509 |
| 98 | Absent epiphyses (HP:0010577) | 1.67977509 |
| 99 | Septate vagina (HP:0001153) | 1.67367402 |
| 100 | Abnormality of long-chain fatty-acid metabolism (HP:0010964) | 1.66176932 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 6.18718336 |
| 2 | TESK1 | 4.73404648 |
| 3 | PNCK | 4.26145290 |
| 4 | AKT3 | 3.99749908 |
| 5 | DDR2 | 2.83581532 |
| 6 | CDK12 | 2.61358103 |
| 7 | BRAF | 2.46588809 |
| 8 | PDK2 | 2.15144306 |
| 9 | STK38 | 2.09239773 |
| 10 | PBK | 2.00252076 |
| 11 | PLK2 | 1.98728323 |
| 12 | INSRR | 1.98609952 |
| 13 | KSR2 | 1.83938627 |
| 14 | MAP4K2 | 1.82782964 |
| 15 | WNK4 | 1.68423621 |
| 16 | MAP3K2 | 1.64669545 |
| 17 | CAMK1G | 1.60899748 |
| 18 | CDK7 | 1.60483057 |
| 19 | TTK | 1.59064981 |
| 20 | MET | 1.57348070 |
| 21 | EIF2AK1 | 1.57094375 |
| 22 | MAPK15 | 1.52929142 |
| 23 | MST1R | 1.52578495 |
| 24 | EPHA2 | 1.47267810 |
| 25 | BRD4 | 1.37207872 |
| 26 | STK38L | 1.37148325 |
| 27 | PRKD3 | 1.29373056 |
| 28 | MAP3K8 | 1.28498032 |
| 29 | MST4 | 1.25095183 |
| 30 | TESK2 | 1.24986064 |
| 31 | WNK1 | 1.20968302 |
| 32 | NEK6 | 1.18694497 |
| 33 | PDPK1 | 1.17449292 |
| 34 | SRPK1 | 1.17365167 |
| 35 | NEK1 | 1.16938911 |
| 36 | RIPK4 | 1.15136762 |
| 37 | MAP3K9 | 1.13299611 |
| 38 | BMX | 1.13040357 |
| 39 | WEE1 | 1.09583185 |
| 40 | RPS6KB2 | 1.05846542 |
| 41 | ERBB4 | 1.01319062 |
| 42 | CHEK1 | 0.97768841 |
| 43 | TRIB3 | 0.97343916 |
| 44 | CDK19 | 0.96163650 |
| 45 | PTK2B | 0.94926775 |
| 46 | LATS2 | 0.91934065 |
| 47 | MAP2K2 | 0.89563755 |
| 48 | PDK1 | 0.81407329 |
| 49 | AURKA | 0.79932035 |
| 50 | NME1 | 0.79091072 |
| 51 | IRAK3 | 0.77191773 |
| 52 | VRK2 | 0.77059662 |
| 53 | ARAF | 0.75388756 |
| 54 | BUB1 | 0.72950106 |
| 55 | CDK2 | 0.69811613 |
| 56 | CDK4 | 0.68292636 |
| 57 | CDK1 | 0.67397072 |
| 58 | TSSK6 | 0.67362642 |
| 59 | PRKCI | 0.66924531 |
| 60 | BRSK1 | 0.66343856 |
| 61 | PLK1 | 0.62748585 |
| 62 | NEK2 | 0.62474257 |
| 63 | MTOR | 0.61536108 |
| 64 | LATS1 | 0.59202161 |
| 65 | OXSR1 | 0.58378007 |
| 66 | PINK1 | 0.55616449 |
| 67 | CDK3 | 0.55191924 |
| 68 | DYRK3 | 0.52177961 |
| 69 | NME2 | 0.50488655 |
| 70 | ILK | 0.49788624 |
| 71 | GSK3B | 0.48472998 |
| 72 | AURKB | 0.48331261 |
| 73 | STK39 | 0.48198656 |
| 74 | RPS6KA1 | 0.46520443 |
| 75 | PIK3CG | 0.44854784 |
| 76 | CHEK2 | 0.44713837 |
| 77 | PRKG2 | 0.43830647 |
| 78 | PKN2 | 0.43657522 |
| 79 | PAK1 | 0.42758981 |
| 80 | SGK1 | 0.41933288 |
| 81 | ATM | 0.40253215 |
| 82 | ICK | 0.38412416 |
| 83 | NTRK3 | 0.37596971 |
| 84 | ATR | 0.37066268 |
| 85 | MAP3K1 | 0.34039186 |
| 86 | CSNK2A2 | 0.33243899 |
| 87 | RAF1 | 0.32914949 |
| 88 | PRKG1 | 0.32867136 |
| 89 | LRRK2 | 0.31817999 |
| 90 | MAPK1 | 0.30678538 |
| 91 | DYRK1B | 0.30517006 |
| 92 | CSNK1E | 0.30168741 |
| 93 | VRK1 | 0.30023727 |
| 94 | RET | 0.29157294 |
| 95 | CAMK1 | 0.28466015 |
| 96 | AKT2 | 0.28437405 |
| 97 | STK16 | 0.27221312 |
| 98 | ROCK1 | 0.26830128 |
| 99 | BRSK2 | 0.26643378 |
| 100 | CCNB1 | 0.25801268 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 4.07200774 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 3.95402442 |
| 3 | RNA transport_Homo sapiens_hsa03013 | 3.09608475 |
| 4 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 3.07876684 |
| 5 | Homologous recombination_Homo sapiens_hsa03440 | 2.47680183 |
| 6 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 2.35688792 |
| 7 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 2.31756329 |
| 8 | Mismatch repair_Homo sapiens_hsa03430 | 2.31459123 |
| 9 | DNA replication_Homo sapiens_hsa03030 | 2.11890965 |
| 10 | Sulfur relay system_Homo sapiens_hsa04122 | 2.04919220 |
| 11 | Basal transcription factors_Homo sapiens_hsa03022 | 2.00151356 |
| 12 | Tyrosine metabolism_Homo sapiens_hsa00350 | 2.00055894 |
| 13 | Olfactory transduction_Homo sapiens_hsa04740 | 2.00040697 |
| 14 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.92119207 |
| 15 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 1.91368255 |
| 16 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.85169728 |
| 17 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.82818142 |
| 18 | Ribosome_Homo sapiens_hsa03010 | 1.75215301 |
| 19 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.74230775 |
| 20 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.66822669 |
| 21 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.65430835 |
| 22 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 1.63113439 |
| 23 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.56843910 |
| 24 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 1.53149741 |
| 25 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 1.52766602 |
| 26 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.52547592 |
| 27 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.45395729 |
| 28 | Folate biosynthesis_Homo sapiens_hsa00790 | 1.43003356 |
| 29 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.38121461 |
| 30 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.35316680 |
| 31 | Huntingtons disease_Homo sapiens_hsa05016 | 1.34367662 |
| 32 | Cell cycle_Homo sapiens_hsa04110 | 1.33401752 |
| 33 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 1.33275974 |
| 34 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.33141718 |
| 35 | Spliceosome_Homo sapiens_hsa03040 | 1.29879509 |
| 36 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.26770968 |
| 37 | Carbon metabolism_Homo sapiens_hsa01200 | 1.26742618 |
| 38 | Base excision repair_Homo sapiens_hsa03410 | 1.26501953 |
| 39 | RNA polymerase_Homo sapiens_hsa03020 | 1.17101472 |
| 40 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.07735723 |
| 41 | Proteasome_Homo sapiens_hsa03050 | 1.07576130 |
| 42 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 1.06620420 |
| 43 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 1.05992957 |
| 44 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.04282979 |
| 45 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 1.03711646 |
| 46 | Thyroid cancer_Homo sapiens_hsa05216 | 1.01088104 |
| 47 | Purine metabolism_Homo sapiens_hsa00230 | 0.95074578 |
| 48 | Parkinsons disease_Homo sapiens_hsa05012 | 0.93625248 |
| 49 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.93567904 |
| 50 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.93434836 |
| 51 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.93096500 |
| 52 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.89579528 |
| 53 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 0.86431186 |
| 54 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.83624955 |
| 55 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.82488395 |
| 56 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.78943444 |
| 57 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.78425931 |
| 58 | Taste transduction_Homo sapiens_hsa04742 | 0.76727694 |
| 59 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.75673303 |
| 60 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.75279319 |
| 61 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.73973720 |
| 62 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.71862130 |
| 63 | Peroxisome_Homo sapiens_hsa04146 | 0.68120527 |
| 64 | Metabolic pathways_Homo sapiens_hsa01100 | 0.67213902 |
| 65 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.66299844 |
| 66 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.65099145 |
| 67 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.64141368 |
| 68 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.60099797 |
| 69 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.59468768 |
| 70 | RNA degradation_Homo sapiens_hsa03018 | 0.58959015 |
| 71 | Retinol metabolism_Homo sapiens_hsa00830 | 0.57177940 |
| 72 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.55743503 |
| 73 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.54848436 |
| 74 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.54724103 |
| 75 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.54347679 |
| 76 | Histidine metabolism_Homo sapiens_hsa00340 | 0.52627708 |
| 77 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.52313470 |
| 78 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.49892764 |
| 79 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.49040647 |
| 80 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.48381828 |
| 81 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.47072034 |
| 82 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.46360890 |
| 83 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.46297737 |
| 84 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.44130644 |
| 85 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.40417323 |
| 86 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.39817476 |
| 87 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.39680123 |
| 88 | Galactose metabolism_Homo sapiens_hsa00052 | 0.37032799 |
| 89 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.35228366 |
| 90 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.34652585 |
| 91 | Endocytosis_Homo sapiens_hsa04144 | 0.34520394 |
| 92 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.34489472 |
| 93 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.34230569 |
| 94 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.34170060 |
| 95 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.34098660 |
| 96 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.32063763 |
| 97 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.31752748 |
| 98 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.30765294 |
| 99 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.29197627 |
| 100 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.27844397 |

