

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | DNA packaging (GO:0006323) | 9.77020460 |
| 2 | sperm motility (GO:0030317) | 9.51600199 |
| 3 | acrosome reaction (GO:0007340) | 9.03683907 |
| 4 | spermatid nucleus differentiation (GO:0007289) | 8.49883708 |
| 5 | microtubule depolymerization (GO:0007019) | 8.23288623 |
| 6 | fusion of sperm to egg plasma membrane (GO:0007342) | 7.96872850 |
| 7 | rRNA methylation (GO:0031167) | 7.90645672 |
| 8 | sperm capacitation (GO:0048240) | 7.66856487 |
| 9 | response to pheromone (GO:0019236) | 7.60667345 |
| 10 | rRNA modification (GO:0000154) | 7.11601325 |
| 11 | single strand break repair (GO:0000012) | 6.93319926 |
| 12 | microtubule polymerization or depolymerization (GO:0031109) | 6.83026244 |
| 13 | spermatid development (GO:0007286) | 6.69920161 |
| 14 | sperm-egg recognition (GO:0035036) | 6.32325387 |
| 15 | binding of sperm to zona pellucida (GO:0007339) | 6.11103598 |
| 16 | plasma membrane fusion (GO:0045026) | 5.83032645 |
| 17 | sexual reproduction (GO:0019953) | 5.53292522 |
| 18 | protein polyglutamylation (GO:0018095) | 5.33014077 |
| 19 | centriole replication (GO:0007099) | 5.29407523 |
| 20 | spermatogenesis (GO:0007283) | 5.22044560 |
| 21 | male gamete generation (GO:0048232) | 5.20736435 |
| 22 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.19781001 |
| 23 | reproduction (GO:0000003) | 5.15279169 |
| 24 | multicellular organism reproduction (GO:0032504) | 5.10832444 |
| 25 | regulation of centriole replication (GO:0046599) | 5.05804047 |
| 26 | cell-cell recognition (GO:0009988) | 4.97254854 |
| 27 | gamete generation (GO:0007276) | 4.78038714 |
| 28 | phosphatidylethanolamine metabolic process (GO:0046337) | 4.74677381 |
| 29 | centriole assembly (GO:0098534) | 4.62891280 |
| 30 | DNA conformation change (GO:0071103) | 4.58393018 |
| 31 | cellular ketone body metabolic process (GO:0046950) | 4.49878549 |
| 32 | microtubule severing (GO:0051013) | 4.45143405 |
| 33 | nucleosome disassembly (GO:0006337) | 4.43272179 |
| 34 | protein-DNA complex disassembly (GO:0032986) | 4.43272179 |
| 35 | cell wall macromolecule catabolic process (GO:0016998) | 4.40199946 |
| 36 | chromatin silencing (GO:0006342) | 4.36252126 |
| 37 | protein targeting to Golgi (GO:0000042) | 4.32745758 |
| 38 | single fertilization (GO:0007338) | 4.28106425 |
| 39 | calcium ion-dependent exocytosis (GO:0017156) | 4.27463737 |
| 40 | axonemal dynein complex assembly (GO:0070286) | 4.21720297 |
| 41 | nucleus organization (GO:0006997) | 4.15852365 |
| 42 | glycerol ether metabolic process (GO:0006662) | 4.14845141 |
| 43 | germ cell development (GO:0007281) | 4.13489420 |
| 44 | cell wall macromolecule metabolic process (GO:0044036) | 4.06607269 |
| 45 | establishment of protein localization to Golgi (GO:0072600) | 4.03501779 |
| 46 | negative regulation of inclusion body assembly (GO:0090084) | 3.97135301 |
| 47 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 3.96989665 |
| 48 | ketone body metabolic process (GO:1902224) | 3.94712137 |
| 49 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.86577295 |
| 50 | multicellular organismal reproductive process (GO:0048609) | 3.81423917 |
| 51 | fertilization (GO:0009566) | 3.81068635 |
| 52 | male meiosis I (GO:0007141) | 3.81043236 |
| 53 | ether metabolic process (GO:0018904) | 3.80489906 |
| 54 | motile cilium assembly (GO:0044458) | 3.75151823 |
| 55 | mitotic chromosome condensation (GO:0007076) | 3.61994006 |
| 56 | histone exchange (GO:0043486) | 3.59792940 |
| 57 | nuclear pore complex assembly (GO:0051292) | 3.55575985 |
| 58 | meiosis I (GO:0007127) | 3.47659095 |
| 59 | negative regulation of histone methylation (GO:0031061) | 3.46594050 |
| 60 | regulation of Rab GTPase activity (GO:0032313) | 3.44399757 |
| 61 | positive regulation of Rab GTPase activity (GO:0032851) | 3.44399757 |
| 62 | seminiferous tubule development (GO:0072520) | 3.42851218 |
| 63 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.41111844 |
| 64 | piRNA metabolic process (GO:0034587) | 3.40612565 |
| 65 | RNA methylation (GO:0001510) | 3.38163667 |
| 66 | resolution of meiotic recombination intermediates (GO:0000712) | 3.37584456 |
| 67 | regulation of cilium movement (GO:0003352) | 3.35737641 |
| 68 | RNA destabilization (GO:0050779) | 3.33547700 |
| 69 | mitotic metaphase plate congression (GO:0007080) | 3.23125522 |
| 70 | DNA topological change (GO:0006265) | 3.18599892 |
| 71 | synapsis (GO:0007129) | 3.17951955 |
| 72 | cilium or flagellum-dependent cell motility (GO:0001539) | 3.14118580 |
| 73 | regulation of female gonad development (GO:2000194) | 3.11640190 |
| 74 | regulation of histone H3-K9 methylation (GO:0051570) | 3.09551224 |
| 75 | regulation of histone H3-K27 methylation (GO:0061085) | 3.07450047 |
| 76 | protein localization to Golgi apparatus (GO:0034067) | 3.04897247 |
| 77 | microtubule nucleation (GO:0007020) | 2.88540435 |
| 78 | regulation of inclusion body assembly (GO:0090083) | 2.86180625 |
| 79 | male meiosis (GO:0007140) | 2.79882256 |
| 80 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 2.78151175 |
| 81 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.77284483 |
| 82 | homeostasis of number of cells within a tissue (GO:0048873) | 2.77087837 |
| 83 | DNA methylation involved in gamete generation (GO:0043046) | 2.73962604 |
| 84 | hematopoietic stem cell differentiation (GO:0060218) | 2.72499625 |
| 85 | nuclear pore organization (GO:0006999) | 2.72443926 |
| 86 | polyamine biosynthetic process (GO:0006596) | 2.70915011 |
| 87 | DNA ligation (GO:0006266) | 2.69930532 |
| 88 | chromosome organization involved in meiosis (GO:0070192) | 2.69102346 |
| 89 | regulation of chromatin binding (GO:0035561) | 2.68191146 |
| 90 | ribosome assembly (GO:0042255) | 2.68140583 |
| 91 | positive regulation of chromosome segregation (GO:0051984) | 2.67471711 |
| 92 | gene silencing (GO:0016458) | 2.66753887 |
| 93 | chromosome organization (GO:0051276) | 2.66579850 |
| 94 | organic cation transport (GO:0015695) | 2.65191924 |
| 95 | mitotic nuclear envelope disassembly (GO:0007077) | 2.64265836 |
| 96 | pore complex assembly (GO:0046931) | 2.63993978 |
| 97 | meiotic cell cycle process (GO:1903046) | 2.63074950 |
| 98 | regulation of transcription involved in cell fate commitment (GO:0060850) | 2.62492831 |
| 99 | tRNA methylation (GO:0030488) | 2.60621485 |
| 100 | chromosome condensation (GO:0030261) | 10.3632580 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 6.32762538 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 5.94495306 |
| 3 | E2F7_22180533_ChIP-Seq_HELA_Human | 5.14041734 |
| 4 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 2.78754350 |
| 5 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 2.53618290 |
| 6 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.37358566 |
| 7 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.26159128 |
| 8 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 2.20608399 |
| 9 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 2.16759392 |
| 10 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 2.08115600 |
| 11 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 1.97902082 |
| 12 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.86462522 |
| 13 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.83103403 |
| 14 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.82552903 |
| 15 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.82117831 |
| 16 | P68_20966046_ChIP-Seq_HELA_Human | 1.78344746 |
| 17 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.76422723 |
| 18 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.75909804 |
| 19 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.75861484 |
| 20 | ERA_21632823_ChIP-Seq_H3396_Human | 1.73912330 |
| 21 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.71716699 |
| 22 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.71196089 |
| 23 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.70948866 |
| 24 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.69190759 |
| 25 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.68594450 |
| 26 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.65804342 |
| 27 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.63908359 |
| 28 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 1.59254497 |
| 29 | P300_27268052_Chip-Seq_Bcells_Human | 1.54119420 |
| 30 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.53010291 |
| 31 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.52123334 |
| 32 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.49716514 |
| 33 | VDR_22108803_ChIP-Seq_LS180_Human | 1.47662325 |
| 34 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 1.46816599 |
| 35 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.45865547 |
| 36 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.45343685 |
| 37 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.42965095 |
| 38 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.42270036 |
| 39 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.42208168 |
| 40 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.42208168 |
| 41 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 1.42176086 |
| 42 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.38368002 |
| 43 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.37912274 |
| 44 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.37821823 |
| 45 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.36903148 |
| 46 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.34027361 |
| 47 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.34027361 |
| 48 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.31340823 |
| 49 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.29963949 |
| 50 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.29054217 |
| 51 | SA1_27219007_Chip-Seq_Bcells_Human | 1.26848907 |
| 52 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.26276041 |
| 53 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.25908754 |
| 54 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.24398411 |
| 55 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.24386254 |
| 56 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.23089660 |
| 57 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.21345423 |
| 58 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.20358518 |
| 59 | FOXP1_21924763_ChIP-Seq_HESCs_Human | 1.19485957 |
| 60 | NCOR1_26117541_ChIP-Seq_K562_Human | 1.19097499 |
| 61 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.18886458 |
| 62 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 1.18454095 |
| 63 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 1.17989687 |
| 64 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.17684628 |
| 65 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.17576746 |
| 66 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.16692332 |
| 67 | GATA1_19941826_ChIP-Seq_K562_Human | 1.16269030 |
| 68 | BCL3_23251550_ChIP-Seq_MUSCLE_Mouse | 1.16090793 |
| 69 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.15278975 |
| 70 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.14874721 |
| 71 | CTCF_21964334_Chip-Seq_Bcells_Human | 1.14069587 |
| 72 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.13409999 |
| 73 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 1.12646471 |
| 74 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.11743553 |
| 75 | SPI1_20517297_ChIP-Seq_HL60_Human | 1.10396075 |
| 76 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 1.09803180 |
| 77 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 1.09034338 |
| 78 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.08906159 |
| 79 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 1.06926030 |
| 80 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.05527122 |
| 81 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 1.05204408 |
| 82 | XRN2_22483619_ChIP-Seq_HELA_Human | 1.03440553 |
| 83 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.02965890 |
| 84 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.02919964 |
| 85 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.01608499 |
| 86 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.01441040 |
| 87 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 1.01368729 |
| 88 | FUS_26573619_Chip-Seq_HEK293_Human | 1.01274010 |
| 89 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.00285737 |
| 90 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.00152181 |
| 91 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 0.99565476 |
| 92 | ZNF274_21170338_ChIP-Seq_K562_Hela | 0.99424141 |
| 93 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 0.99262504 |
| 94 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 0.96343621 |
| 95 | KDM5A_27292631_Chip-Seq_BREAST_Human | 0.96041004 |
| 96 | NFYB_21822215_ChIP-Seq_K562_Human | 0.95552551 |
| 97 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 0.94683955 |
| 98 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 0.93564367 |
| 99 | CSB_26484114_Chip-Seq_FIBROBLAST_Human | 0.92907954 |
| 100 | SOX11_22085726_ChIP-Seq_ESNs_Mouse | 0.90854478 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 9.95177206 |
| 2 | MP0001348_abnormal_lacrimal_gland | 4.12930661 |
| 3 | MP0003698_abnormal_male_reproductive | 4.01358154 |
| 4 | MP0001929_abnormal_gametogenesis | 3.89970978 |
| 5 | MP0003878_abnormal_ear_physiology | 3.86079883 |
| 6 | MP0005377_hearing/vestibular/ear_phenot | 3.86079883 |
| 7 | MP0005670_abnormal_white_adipose | 3.61864016 |
| 8 | MP0009697_abnormal_copulation | 2.91554141 |
| 9 | MP0005379_endocrine/exocrine_gland_phen | 2.83325139 |
| 10 | MP0000678_abnormal_parathyroid_gland | 2.78924763 |
| 11 | MP0002132_abnormal_respiratory_system | 2.56410999 |
| 12 | MP0005451_abnormal_body_composition | 2.52776648 |
| 13 | MP0003077_abnormal_cell_cycle | 2.43325003 |
| 14 | MP0003718_maternal_effect | 2.42730163 |
| 15 | MP0002210_abnormal_sex_determination | 2.33739907 |
| 16 | MP0002161_abnormal_fertility/fecundity | 2.29813095 |
| 17 | MP0010094_abnormal_chromosome_stability | 2.16353235 |
| 18 | MP0003111_abnormal_nucleus_morphology | 2.14236823 |
| 19 | MP0003646_muscle_fatigue | 1.94439893 |
| 20 | MP0004957_abnormal_blastocyst_morpholog | 1.93340309 |
| 21 | MP0001145_abnormal_male_reproductive | 1.90279625 |
| 22 | MP0000653_abnormal_sex_gland | 1.80213517 |
| 23 | MP0003011_delayed_dark_adaptation | 1.80149276 |
| 24 | MP0003693_abnormal_embryo_hatching | 1.68976926 |
| 25 | MP0008058_abnormal_DNA_repair | 1.66935392 |
| 26 | MP0008007_abnormal_cellular_replicative | 1.66733328 |
| 27 | MP0008995_early_reproductive_senescence | 1.62844710 |
| 28 | MP0005397_hematopoietic_system_phenotyp | 1.61081840 |
| 29 | MP0001545_abnormal_hematopoietic_system | 1.61081840 |
| 30 | MP0008877_abnormal_DNA_methylation | 1.54532468 |
| 31 | MP0003786_premature_aging | 1.47829023 |
| 32 | MP0008057_abnormal_DNA_replication | 1.46562048 |
| 33 | MP0009278_abnormal_bone_marrow | 1.40030029 |
| 34 | MP0006292_abnormal_olfactory_placode | 1.32963564 |
| 35 | MP0005253_abnormal_eye_physiology | 1.28694731 |
| 36 | MP0005083_abnormal_biliary_tract | 1.23832537 |
| 37 | MP0002249_abnormal_larynx_morphology | 1.20114456 |
| 38 | MP0000681_abnormal_thyroid_gland | 1.11087382 |
| 39 | MP0005551_abnormal_eye_electrophysiolog | 1.04888805 |
| 40 | MP0002822_catalepsy | 1.03323622 |
| 41 | MP0006072_abnormal_retinal_apoptosis | 0.99389612 |
| 42 | MP0001529_abnormal_vocalization | 0.99022109 |
| 43 | MP0005666_abnormal_adipose_tissue | 0.96558178 |
| 44 | MP0000313_abnormal_cell_death | 0.89930470 |
| 45 | MP0009115_abnormal_fat_cell | 0.85911158 |
| 46 | MP0001730_embryonic_growth_arrest | 0.84520532 |
| 47 | MP0005167_abnormal_blood-brain_barrier | 0.79890360 |
| 48 | MP0002163_abnormal_gland_morphology | 0.79279940 |
| 49 | MP0005645_abnormal_hypothalamus_physiol | 0.75993491 |
| 50 | MP0002282_abnormal_trachea_morphology | 0.73919303 |
| 51 | MP0004036_abnormal_muscle_relaxation | 0.73023872 |
| 52 | MP0002396_abnormal_hematopoietic_system | 0.71794804 |
| 53 | MP0008932_abnormal_embryonic_tissue | 0.71561762 |
| 54 | MP0000534_abnormal_ureter_morphology | 0.71457471 |
| 55 | MP0005391_vision/eye_phenotype | 0.70503026 |
| 56 | MP0003699_abnormal_female_reproductive | 0.69083506 |
| 57 | MP0009379_abnormal_foot_pigmentation | 0.68384224 |
| 58 | MP0002229_neurodegeneration | 0.68202718 |
| 59 | MP0003950_abnormal_plasma_membrane | 0.68116889 |
| 60 | MP0004808_abnormal_hematopoietic_stem | 0.67881617 |
| 61 | MP0001119_abnormal_female_reproductive | 0.65854109 |
| 62 | MP0005375_adipose_tissue_phenotype | 0.64942416 |
| 63 | MP0006036_abnormal_mitochondrial_physio | 0.64911008 |
| 64 | MP0002160_abnormal_reproductive_system | 0.64826066 |
| 65 | MP0005636_abnormal_mineral_homeostasis | 0.63827663 |
| 66 | MP0003283_abnormal_digestive_organ | 0.63168690 |
| 67 | MP0002080_prenatal_lethality | 0.62554372 |
| 68 | MP0005310_abnormal_salivary_gland | 0.62487370 |
| 69 | MP0008770_decreased_survivor_rate | 0.62364041 |
| 70 | MP0002127_abnormal_cardiovascular_syste | 0.61928837 |
| 71 | MP0001765_abnormal_ion_homeostasis | 0.61073541 |
| 72 | MP0010307_abnormal_tumor_latency | 0.59663534 |
| 73 | MP0000350_abnormal_cell_proliferation | 0.58855026 |
| 74 | MP0001764_abnormal_homeostasis | 0.58625882 |
| 75 | MP0006035_abnormal_mitochondrial_morpho | 0.57368288 |
| 76 | MP0001661_extended_life_span | 0.55971988 |
| 77 | MP0001963_abnormal_hearing_physiology | 0.54566738 |
| 78 | MP0000613_abnormal_salivary_gland | 0.50244328 |
| 79 | MP0002019_abnormal_tumor_incidence | 0.48673602 |
| 80 | MP0000026_abnormal_inner_ear | 0.46168923 |
| 81 | MP0004233_abnormal_muscle_weight | 0.45761145 |
| 82 | MP0005423_abnormal_somatic_nervous | 0.45713725 |
| 83 | MP0005395_other_phenotype | 0.45395193 |
| 84 | MP0003115_abnormal_respiratory_system | 0.45288401 |
| 85 | MP0001697_abnormal_embryo_size | 0.44842483 |
| 86 | MP0005380_embryogenesis_phenotype | 0.44259517 |
| 87 | MP0001672_abnormal_embryogenesis/_devel | 0.44259517 |
| 88 | MP0002085_abnormal_embryonic_tissue | 0.42870667 |
| 89 | MP0005332_abnormal_amino_acid | 0.42748192 |
| 90 | MP0002234_abnormal_pharynx_morphology | 0.42533956 |
| 91 | MP0003936_abnormal_reproductive_system | 0.41782728 |
| 92 | MP0004084_abnormal_cardiac_muscle | 0.41205991 |
| 93 | MP0001340_abnormal_eyelid_morphology | 0.41109256 |
| 94 | MP0000703_abnormal_thymus_morphology | 0.40776286 |
| 95 | MP0000003_abnormal_adipose_tissue | 0.40298957 |
| 96 | MP0002970_abnormal_white_adipose | 0.39784700 |
| 97 | MP0001486_abnormal_startle_reflex | 0.39205358 |
| 98 | MP0001293_anophthalmia | 0.39190515 |
| 99 | MP0000609_abnormal_liver_physiology | 0.38270656 |
| 100 | MP0002269_muscular_atrophy | 0.37543562 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 6.63579856 |
| 2 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.87375439 |
| 3 | Tubulointerstitial nephritis (HP:0001970) | 4.66220979 |
| 4 | Attenuation of retinal blood vessels (HP:0007843) | 4.33177806 |
| 5 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 4.08507519 |
| 6 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 3.81123648 |
| 7 | Abnormality of macular pigmentation (HP:0008002) | 3.63746228 |
| 8 | Male infertility (HP:0003251) | 3.52978173 |
| 9 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.48307580 |
| 10 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.48186842 |
| 11 | Asymmetric septal hypertrophy (HP:0001670) | 3.37747912 |
| 12 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 3.32899072 |
| 13 | Absent/shortened dynein arms (HP:0200106) | 3.32899072 |
| 14 | Chronic hepatic failure (HP:0100626) | 3.31532025 |
| 15 | Abnormal spermatogenesis (HP:0008669) | 3.28444004 |
| 16 | Azoospermia (HP:0000027) | 3.27946531 |
| 17 | Resting tremor (HP:0002322) | 3.19797655 |
| 18 | Hypoplasia of the thymus (HP:0000778) | 3.16916710 |
| 19 | Generalized aminoaciduria (HP:0002909) | 3.05239877 |
| 20 | Infertility (HP:0000789) | 3.00191525 |
| 21 | Abnormal respiratory motile cilium physiology (HP:0012261) | 2.92893411 |
| 22 | Facial shape deformation (HP:0011334) | 2.90086569 |
| 23 | Potter facies (HP:0002009) | 2.90086569 |
| 24 | Abnormal ciliary motility (HP:0012262) | 2.88298014 |
| 25 | 11 pairs of ribs (HP:0000878) | 2.81127747 |
| 26 | Scotoma (HP:0000575) | 2.79240909 |
| 27 | Hyperthyroidism (HP:0000836) | 2.76331088 |
| 28 | Renal Fanconi syndrome (HP:0001994) | 2.71735436 |
| 29 | Supernumerary spleens (HP:0009799) | 2.68135881 |
| 30 | Bell-shaped thorax (HP:0001591) | 2.60766214 |
| 31 | Impulsivity (HP:0100710) | 2.60486545 |
| 32 | Nasal polyposis (HP:0100582) | 2.59678376 |
| 33 | Truncus arteriosus (HP:0001660) | 2.57045499 |
| 34 | Hyperkalemia (HP:0002153) | 2.56567334 |
| 35 | Abnormal urine output (HP:0012590) | 2.54634305 |
| 36 | Chromsome breakage (HP:0040012) | 2.53087576 |
| 37 | Renovascular hypertension (HP:0100817) | 2.52717029 |
| 38 | Abnormal respiratory epithelium morphology (HP:0012253) | 2.49699761 |
| 39 | Abnormal respiratory motile cilium morphology (HP:0005938) | 2.49699761 |
| 40 | Subcapsular cataract (HP:0000523) | 2.49211609 |
| 41 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 2.47817351 |
| 42 | Aplasia/Hypoplasia of the thymus (HP:0010515) | 2.43035656 |
| 43 | Central scotoma (HP:0000603) | 2.36278483 |
| 44 | Seborrheic dermatitis (HP:0001051) | 2.35907047 |
| 45 | Aplastic anemia (HP:0001915) | 2.35287400 |
| 46 | Small intestinal stenosis (HP:0012848) | 2.34705821 |
| 47 | Duodenal stenosis (HP:0100867) | 2.34705821 |
| 48 | Congenital stationary night blindness (HP:0007642) | 2.27457471 |
| 49 | Retinal dysplasia (HP:0007973) | 2.27207693 |
| 50 | Cone-rod dystrophy (HP:0000548) | 2.26830591 |
| 51 | Abnormality of cochlea (HP:0000375) | 2.26564146 |
| 52 | Menstrual irregularities (HP:0000858) | 2.25090399 |
| 53 | Progressive sensorineural hearing impairment (HP:0000408) | 2.24553804 |
| 54 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 2.23510633 |
| 55 | Reticulocytosis (HP:0001923) | 2.21771192 |
| 56 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 2.19944892 |
| 57 | Polyuria (HP:0000103) | 2.16726273 |
| 58 | Abnormality of DNA repair (HP:0003254) | 2.15381759 |
| 59 | Hepatocellular necrosis (HP:0001404) | 2.14182358 |
| 60 | Hypoalphalipoproteinemia (HP:0003233) | 2.10872687 |
| 61 | Abnormality of lateral ventricle (HP:0030047) | 2.10471171 |
| 62 | Hyponatremia (HP:0002902) | 2.09928572 |
| 63 | Hypoparathyroidism (HP:0000829) | 2.09415936 |
| 64 | Abnormality of the duodenum (HP:0002246) | 2.05241043 |
| 65 | Short middle phalanx of the 5th finger (HP:0004220) | 2.02959608 |
| 66 | Tubulointerstitial abnormality (HP:0001969) | 2.02180878 |
| 67 | Cerebellar dysplasia (HP:0007033) | 2.01784819 |
| 68 | Sandal gap (HP:0001852) | 2.00141212 |
| 69 | Abnormal ventriculo-arterial connection (HP:0011563) | 1.98816003 |
| 70 | Transposition of the great arteries (HP:0001669) | 1.98816003 |
| 71 | Abnormal connection of the cardiac segments (HP:0011545) | 1.98816003 |
| 72 | Abnormality of renal excretion (HP:0011036) | 1.98516507 |
| 73 | Abnormality of the ileum (HP:0001549) | 1.97365061 |
| 74 | Intellectual disability, moderate (HP:0002342) | 1.97160444 |
| 75 | Abnormality of dental color (HP:0011073) | 1.95469805 |
| 76 | Abnormality of the preputium (HP:0100587) | 1.94595739 |
| 77 | Hypergonadotropic hypogonadism (HP:0000815) | 1.94189824 |
| 78 | Meckel diverticulum (HP:0002245) | 1.94177877 |
| 79 | Abnormality of reticulocytes (HP:0004312) | 1.92292180 |
| 80 | Increased purine levels (HP:0004368) | 1.91913492 |
| 81 | Hyperuricemia (HP:0002149) | 1.91913492 |
| 82 | Hepatic necrosis (HP:0002605) | 1.90705249 |
| 83 | Progressive hearing impairment (HP:0001730) | 1.89974710 |
| 84 | Abnormality of renal resorption (HP:0011038) | 1.88547226 |
| 85 | Stage 5 chronic kidney disease (HP:0003774) | 1.86772771 |
| 86 | Mitochondrial inheritance (HP:0001427) | 1.86524025 |
| 87 | Acute myeloid leukemia (HP:0004808) | 1.85637192 |
| 88 | Abnormality of the nasal mucosa (HP:0000433) | 1.85365965 |
| 89 | Abnormality of chloride homeostasis (HP:0011422) | 1.85118049 |
| 90 | Upper limb muscle weakness (HP:0003484) | 1.84220199 |
| 91 | Postural instability (HP:0002172) | 1.83278004 |
| 92 | Bowel incontinence (HP:0002607) | 1.82337709 |
| 93 | Rhabdomyolysis (HP:0003201) | 1.78760660 |
| 94 | Optic disc pallor (HP:0000543) | 1.78030335 |
| 95 | Nephronophthisis (HP:0000090) | 1.77028022 |
| 96 | Abnormality of the tricuspid valve (HP:0001702) | 1.75047979 |
| 97 | Abnormal large intestine physiology (HP:0012700) | 1.74574481 |
| 98 | Double outlet right ventricle (HP:0001719) | 1.74264941 |
| 99 | Congenital malformation of the right heart (HP:0011723) | 1.74264941 |
| 100 | Abnormality of chromosome stability (HP:0003220) | 1.73677420 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 8.05563404 |
| 2 | TESK2 | 5.98863308 |
| 3 | TESK1 | 3.76832453 |
| 4 | ZAK | 2.97819266 |
| 5 | BRD4 | 2.54225480 |
| 6 | DDR2 | 2.42325869 |
| 7 | TLK1 | 2.12118286 |
| 8 | INSRR | 2.07483187 |
| 9 | PBK | 2.04285769 |
| 10 | PLK2 | 2.03486142 |
| 11 | CDK12 | 2.00970302 |
| 12 | MAP4K2 | 1.83448399 |
| 13 | VRK1 | 1.80502044 |
| 14 | CDK7 | 1.75886083 |
| 15 | FLT3 | 1.67869106 |
| 16 | TTK | 1.64064613 |
| 17 | STK38 | 1.58211588 |
| 18 | PNCK | 1.57422782 |
| 19 | PIK3CG | 1.53886958 |
| 20 | CAMK1G | 1.49862804 |
| 21 | BUB1 | 1.48654511 |
| 22 | VRK2 | 1.41244250 |
| 23 | CDC7 | 1.31190355 |
| 24 | CHEK2 | 1.15983923 |
| 25 | NEK1 | 1.15214878 |
| 26 | MAP3K8 | 1.11064183 |
| 27 | AURKA | 1.08902399 |
| 28 | MST1R | 1.07349853 |
| 29 | BRSK1 | 1.05267686 |
| 30 | SCYL2 | 1.04314979 |
| 31 | KDR | 1.03146518 |
| 32 | CDK3 | 0.96039827 |
| 33 | CHEK1 | 0.93458473 |
| 34 | TAF1 | 0.89594563 |
| 35 | MAP3K11 | 0.88183496 |
| 36 | DYRK3 | 0.87236291 |
| 37 | PDK1 | 0.86248909 |
| 38 | NME2 | 0.84541270 |
| 39 | PLK1 | 0.83213609 |
| 40 | KIT | 0.80079770 |
| 41 | ICK | 0.79039874 |
| 42 | CDK4 | 0.78948344 |
| 43 | NEK2 | 0.78011263 |
| 44 | CDK2 | 0.76094525 |
| 45 | PDPK1 | 0.76085184 |
| 46 | SMG1 | 0.74891731 |
| 47 | AURKB | 0.74133427 |
| 48 | BRAF | 0.72045506 |
| 49 | WEE1 | 0.71694339 |
| 50 | CDK1 | 0.71238770 |
| 51 | ATR | 0.70687051 |
| 52 | CLK1 | 0.70548488 |
| 53 | CSF1R | 0.70515153 |
| 54 | LATS2 | 0.67713653 |
| 55 | BRSK2 | 0.67656438 |
| 56 | NUAK1 | 0.66930460 |
| 57 | PRKG2 | 0.66026932 |
| 58 | MAPK15 | 0.64900306 |
| 59 | WNK4 | 0.64648099 |
| 60 | CAMK1D | 0.64487192 |
| 61 | WNK1 | 0.63247710 |
| 62 | MST4 | 0.61350456 |
| 63 | PINK1 | 0.60969081 |
| 64 | PRKD3 | 0.59285251 |
| 65 | DYRK1B | 0.59166312 |
| 66 | UHMK1 | 0.58812086 |
| 67 | SRPK1 | 0.56029671 |
| 68 | PTK2B | 0.55943847 |
| 69 | TYRO3 | 0.53252937 |
| 70 | MTOR | 0.52886134 |
| 71 | EIF2AK1 | 0.52081243 |
| 72 | MAPK11 | 0.51509964 |
| 73 | RPS6KA1 | 0.51006056 |
| 74 | RPS6KA5 | 0.47112608 |
| 75 | GRK1 | 0.45852524 |
| 76 | CCNB1 | 0.45629915 |
| 77 | SIK2 | 0.44591539 |
| 78 | GSK3B | 0.44450645 |
| 79 | CDK9 | 0.42028181 |
| 80 | KSR2 | 0.40303017 |
| 81 | PRKG1 | 0.40245114 |
| 82 | NME1 | 0.39295042 |
| 83 | MAPK1 | 0.38921971 |
| 84 | RPS6KC1 | 0.36498742 |
| 85 | RPS6KL1 | 0.36498742 |
| 86 | PAK1 | 0.36305136 |
| 87 | ATM | 0.34884087 |
| 88 | MAPK14 | 0.34786745 |
| 89 | AKT2 | 0.33903784 |
| 90 | PLK3 | 0.33508574 |
| 91 | MINK1 | 0.30356471 |
| 92 | CSNK2A2 | 0.28490164 |
| 93 | LMTK2 | 0.27770622 |
| 94 | RPS6KB2 | 0.26867291 |
| 95 | MAP3K2 | 0.26128928 |
| 96 | RPS6KA6 | 0.25370584 |
| 97 | CSNK2A1 | 0.25252973 |
| 98 | PRKCH | 0.25224611 |
| 99 | MAP2K2 | 0.24235220 |
| 100 | AKT1 | 0.23875835 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 5.03170896 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 4.22955345 |
| 3 | DNA replication_Homo sapiens_hsa03030 | 3.34548090 |
| 4 | Olfactory transduction_Homo sapiens_hsa04740 | 2.86742320 |
| 5 | RNA transport_Homo sapiens_hsa03013 | 2.75297572 |
| 6 | Base excision repair_Homo sapiens_hsa03410 | 2.55340849 |
| 7 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 2.53659684 |
| 8 | Mismatch repair_Homo sapiens_hsa03430 | 2.42252439 |
| 9 | Homologous recombination_Homo sapiens_hsa03440 | 2.19643455 |
| 10 | Spliceosome_Homo sapiens_hsa03040 | 2.10925763 |
| 11 | Ribosome_Homo sapiens_hsa03010 | 2.10551684 |
| 12 | Huntingtons disease_Homo sapiens_hsa05016 | 2.08673050 |
| 13 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 2.06201668 |
| 14 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 2.00222341 |
| 15 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.90931573 |
| 16 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.90548347 |
| 17 | Cell cycle_Homo sapiens_hsa04110 | 1.84004631 |
| 18 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.80666800 |
| 19 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.73710273 |
| 20 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.72666961 |
| 21 | Parkinsons disease_Homo sapiens_hsa05012 | 1.71139983 |
| 22 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.70617689 |
| 23 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 1.66157887 |
| 24 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 1.64623503 |
| 25 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.62185899 |
| 26 | Proteasome_Homo sapiens_hsa03050 | 1.58360145 |
| 27 | RNA polymerase_Homo sapiens_hsa03020 | 1.57081679 |
| 28 | Basal transcription factors_Homo sapiens_hsa03022 | 1.51249276 |
| 29 | Phototransduction_Homo sapiens_hsa04744 | 1.51176227 |
| 30 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 1.50668257 |
| 31 | Purine metabolism_Homo sapiens_hsa00230 | 1.46925655 |
| 32 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.46006030 |
| 33 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.41681060 |
| 34 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.41171908 |
| 35 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.32403761 |
| 36 | Alcoholism_Homo sapiens_hsa05034 | 1.25331346 |
| 37 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.22929581 |
| 38 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.21107227 |
| 39 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 1.12273163 |
| 40 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.11861463 |
| 41 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.10739151 |
| 42 | Carbon metabolism_Homo sapiens_hsa01200 | 1.07289788 |
| 43 | Viral carcinogenesis_Homo sapiens_hsa05203 | 1.06646176 |
| 44 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.02924525 |
| 45 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 1.02632534 |
| 46 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.96654532 |
| 47 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.96379926 |
| 48 | Alzheimers disease_Homo sapiens_hsa05010 | 0.94079715 |
| 49 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.93355572 |
| 50 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.86971871 |
| 51 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.84107535 |
| 52 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.81174882 |
| 53 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.71842160 |
| 54 | Allograft rejection_Homo sapiens_hsa05330 | 0.71660363 |
| 55 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.70704785 |
| 56 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.68711100 |
| 57 | Metabolic pathways_Homo sapiens_hsa01100 | 0.67301529 |
| 58 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.66690410 |
| 59 | RNA degradation_Homo sapiens_hsa03018 | 0.64814622 |
| 60 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.63644051 |
| 61 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.63396643 |
| 62 | Taste transduction_Homo sapiens_hsa04742 | 0.62679615 |
| 63 | Lysine degradation_Homo sapiens_hsa00310 | 0.62511565 |
| 64 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.61992388 |
| 65 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.59685869 |
| 66 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.59309013 |
| 67 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.58529108 |
| 68 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.57920422 |
| 69 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.57836491 |
| 70 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.57460877 |
| 71 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.55553242 |
| 72 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.55339825 |
| 73 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.54562526 |
| 74 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.50263142 |
| 75 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.49249520 |
| 76 | Sulfur relay system_Homo sapiens_hsa04122 | 0.48828283 |
| 77 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.46090745 |
| 78 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.43899400 |
| 79 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.43776951 |
| 80 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.43635292 |
| 81 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.42634586 |
| 82 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 0.42428376 |
| 83 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.36984281 |
| 84 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.34397732 |
| 85 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.34125004 |
| 86 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.33049167 |
| 87 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.27773849 |
| 88 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.27720919 |
| 89 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.27453416 |
| 90 | Viral myocarditis_Homo sapiens_hsa05416 | 0.26810567 |
| 91 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.26758503 |
| 92 | Retinol metabolism_Homo sapiens_hsa00830 | 0.25174833 |
| 93 | HTLV-I infection_Homo sapiens_hsa05166 | 0.20238186 |
| 94 | Influenza A_Homo sapiens_hsa05164 | 0.19735802 |
| 95 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.18985382 |
| 96 | Peroxisome_Homo sapiens_hsa04146 | 0.18803658 |
| 97 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.17873360 |
| 98 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.15771124 |
| 99 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.13922437 |
| 100 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.13512532 |

