

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | fusion of sperm to egg plasma membrane (GO:0007342) | 7.62244442 |
| 2 | negative regulation of retinoic acid receptor signaling pathway (GO:0048387) | 7.50270895 |
| 3 | chromosome condensation (GO:0030261) | 7.39467146 |
| 4 | DNA packaging (GO:0006323) | 7.20987592 |
| 5 | acrosome reaction (GO:0007340) | 7.16806510 |
| 6 | sperm motility (GO:0030317) | 6.67611795 |
| 7 | regulation of retinoic acid receptor signaling pathway (GO:0048385) | 6.34442745 |
| 8 | male meiosis I (GO:0007141) | 6.21940429 |
| 9 | binding of sperm to zona pellucida (GO:0007339) | 5.97672879 |
| 10 | rRNA methylation (GO:0031167) | 5.94734238 |
| 11 | spermatid development (GO:0007286) | 5.79464509 |
| 12 | sperm capacitation (GO:0048240) | 5.79236012 |
| 13 | microtubule depolymerization (GO:0007019) | 5.71430251 |
| 14 | spermatid nucleus differentiation (GO:0007289) | 5.65740272 |
| 15 | plasma membrane fusion (GO:0045026) | 5.63606558 |
| 16 | rRNA modification (GO:0000154) | 5.62571975 |
| 17 | sperm-egg recognition (GO:0035036) | 5.57453133 |
| 18 | DNA methylation involved in gamete generation (GO:0043046) | 5.16909071 |
| 19 | oxygen transport (GO:0015671) | 5.10699069 |
| 20 | meiosis I (GO:0007127) | 5.03441913 |
| 21 | gas transport (GO:0015669) | 4.87995913 |
| 22 | male meiosis (GO:0007140) | 4.87556818 |
| 23 | response to pheromone (GO:0019236) | 4.82293680 |
| 24 | histone H3-K9 demethylation (GO:0033169) | 4.81079746 |
| 25 | synapsis (GO:0007129) | 4.69572203 |
| 26 | microtubule polymerization or depolymerization (GO:0031109) | 4.54684001 |
| 27 | cell-cell recognition (GO:0009988) | 4.44183350 |
| 28 | piRNA metabolic process (GO:0034587) | 4.43820005 |
| 29 | negative regulation of inclusion body assembly (GO:0090084) | 4.40594909 |
| 30 | chromosome organization involved in meiosis (GO:0070192) | 4.30864502 |
| 31 | calcium ion-dependent exocytosis (GO:0017156) | 4.29070090 |
| 32 | * spermatogenesis (GO:0007283) | 4.25850110 |
| 33 | * male gamete generation (GO:0048232) | 4.25310419 |
| 34 | multicellular organism reproduction (GO:0032504) | 4.16595168 |
| 35 | single strand break repair (GO:0000012) | 4.15401225 |
| 36 | synaptonemal complex assembly (GO:0007130) | 4.12321103 |
| 37 | sexual reproduction (GO:0019953) | 4.08299436 |
| 38 | meiotic nuclear division (GO:0007126) | 4.07838275 |
| 39 | reproduction (GO:0000003) | 3.98623915 |
| 40 | * gamete generation (GO:0007276) | 3.96767109 |
| 41 | nuclear pore complex assembly (GO:0051292) | 3.91553320 |
| 42 | urinary tract smooth muscle contraction (GO:0014848) | 3.91536708 |
| 43 | centriole replication (GO:0007099) | 3.85532507 |
| 44 | centriole assembly (GO:0098534) | 3.80151376 |
| 45 | protein-DNA complex disassembly (GO:0032986) | 3.70136860 |
| 46 | nucleosome disassembly (GO:0006337) | 3.70136860 |
| 47 | regulation of histone H3-K27 methylation (GO:0061085) | 3.66067930 |
| 48 | regulation of centriole replication (GO:0046599) | 3.65375310 |
| 49 | motile cilium assembly (GO:0044458) | 3.61115243 |
| 50 | synaptonemal complex organization (GO:0070193) | 3.56486158 |
| 51 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 3.54942527 |
| 52 | resolution of meiotic recombination intermediates (GO:0000712) | 3.51278619 |
| 53 | polyamine biosynthetic process (GO:0006596) | 3.50981463 |
| 54 | regulation of cilium movement (GO:0003352) | 3.50349761 |
| 55 | regulation of microtubule-based movement (GO:0060632) | 3.50341697 |
| 56 | protein polyglutamylation (GO:0018095) | 3.42675693 |
| 57 | microtubule severing (GO:0051013) | 3.41275919 |
| 58 | germ cell development (GO:0007281) | 3.40033390 |
| 59 | meiotic cell cycle process (GO:1903046) | 3.39019948 |
| 60 | nuclear pore organization (GO:0006999) | 3.37101117 |
| 61 | regulation of inclusion body assembly (GO:0090083) | 3.36810365 |
| 62 | proline biosynthetic process (GO:0006561) | 3.34570648 |
| 63 | nucleus organization (GO:0006997) | 3.31668351 |
| 64 | short-chain fatty acid metabolic process (GO:0046459) | 3.25979527 |
| 65 | negative regulation of gene silencing (GO:0060969) | 3.24639845 |
| 66 | muscle organ morphogenesis (GO:0048644) | 3.22671289 |
| 67 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.21962728 |
| 68 | * multicellular organismal reproductive process (GO:0048609) | 3.17553217 |
| 69 | phosphatidylethanolamine metabolic process (GO:0046337) | 3.16116154 |
| 70 | chaperone-mediated protein complex assembly (GO:0051131) | 3.10370299 |
| 71 | DNA conformation change (GO:0071103) | 3.08666544 |
| 72 | cellular ketone body metabolic process (GO:0046950) | 3.05548433 |
| 73 | DNA synthesis involved in DNA repair (GO:0000731) | 3.04343160 |
| 74 | regulation of histone H3-K4 methylation (GO:0051569) | 3.03372305 |
| 75 | axonemal dynein complex assembly (GO:0070286) | 3.02742885 |
| 76 | cell wall macromolecule catabolic process (GO:0016998) | 3.01797818 |
| 77 | chromatin silencing (GO:0006342) | 3.00734484 |
| 78 | RNA methylation (GO:0001510) | 2.96244175 |
| 79 | mitotic chromosome condensation (GO:0007076) | 2.96119293 |
| 80 | regulation of somitogenesis (GO:0014807) | 2.94970153 |
| 81 | regulation of RNA export from nucleus (GO:0046831) | 2.93588145 |
| 82 | autophagic vacuole fusion (GO:0000046) | 2.92908710 |
| 83 | fertilization (GO:0009566) | 2.85895231 |
| 84 | histone exchange (GO:0043486) | 2.85249332 |
| 85 | negative regulation of histone methylation (GO:0031061) | 2.84237101 |
| 86 | somite rostral/caudal axis specification (GO:0032525) | 2.83068030 |
| 87 | histone H4 deacetylation (GO:0070933) | 2.80046582 |
| 88 | protein targeting to Golgi (GO:0000042) | 2.78207824 |
| 89 | regulation of histone H3-K9 methylation (GO:0051570) | 2.77341866 |
| 90 | pore complex assembly (GO:0046931) | 2.76446534 |
| 91 | negative regulation of Notch signaling pathway (GO:0045746) | 2.74019134 |
| 92 | peristalsis (GO:0030432) | 2.73090688 |
| 93 | response to food (GO:0032094) | 2.71839408 |
| 94 | positive regulation of gene expression, epigenetic (GO:0045815) | 2.66833295 |
| 95 | face development (GO:0060324) | 2.66141054 |
| 96 | response to dietary excess (GO:0002021) | 2.65861945 |
| 97 | cell wall macromolecule metabolic process (GO:0044036) | 2.65584118 |
| 98 | ketone body metabolic process (GO:1902224) | 2.65455342 |
| 99 | regulation of histone methylation (GO:0031060) | 2.63947265 |
| 100 | regulation of translational fidelity (GO:0006450) | 2.63670297 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.76924591 |
| 2 | E2F7_22180533_ChIP-Seq_HELA_Human | 3.62464165 |
| 3 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 3.04206663 |
| 4 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 2.52487830 |
| 5 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 2.44384350 |
| 6 | ZNF263_19887448_ChIP-Seq_K562_Human | 2.15400850 |
| 7 | P68_20966046_ChIP-Seq_HELA_Human | 2.13132216 |
| 8 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 2.12753710 |
| 9 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 2.12731854 |
| 10 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 2.00326551 |
| 11 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.00204167 |
| 12 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 1.97765375 |
| 13 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.93085176 |
| 14 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.92921281 |
| 15 | NCOR1_26117541_ChIP-Seq_K562_Human | 1.91365040 |
| 16 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 1.90752759 |
| 17 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.90183533 |
| 18 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.87173256 |
| 19 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 1.83585227 |
| 20 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.80593841 |
| 21 | XRN2_22483619_ChIP-Seq_HELA_Human | 1.74105728 |
| 22 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.73077092 |
| 23 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.72480263 |
| 24 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 1.69764983 |
| 25 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.65736057 |
| 26 | ERA_21632823_ChIP-Seq_H3396_Human | 1.65478927 |
| 27 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.62855453 |
| 28 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.62611087 |
| 29 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 1.62453917 |
| 30 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 1.61173175 |
| 31 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.56851814 |
| 32 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.56106552 |
| 33 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 1.56090878 |
| 34 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.55994121 |
| 35 | KDM5A_27292631_Chip-Seq_BREAST_Human | 1.53391649 |
| 36 | CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat | 1.53282104 |
| 37 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.52918927 |
| 38 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 1.51921095 |
| 39 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 1.51143824 |
| 40 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 1.50747153 |
| 41 | GABP_19822575_ChIP-Seq_HepG2_Human | 1.50690130 |
| 42 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 1.45775433 |
| 43 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 1.45685269 |
| 44 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.42981043 |
| 45 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.42647656 |
| 46 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.40150786 |
| 47 | CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.39666156 |
| 48 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 1.38503544 |
| 49 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 1.38411754 |
| 50 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 1.36784680 |
| 51 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.36098222 |
| 52 | FOXP1_21924763_ChIP-Seq_HESCs_Human | 1.35352105 |
| 53 | SIN3A_21632747_ChIP-Seq_MESCs_Mouse | 1.34451377 |
| 54 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 1.34296160 |
| 55 | DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 1.33934267 |
| 56 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.32219963 |
| 57 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 1.30568848 |
| 58 | KLF4_18555785_ChIP-Seq_MESCs_Mouse | 1.28723544 |
| 59 | RUNX1_27514584_Chip-Seq_MCF-7_Human | 1.28540118 |
| 60 | P300_27268052_Chip-Seq_Bcells_Human | 1.26485353 |
| 61 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.26027088 |
| 62 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 1.25180890 |
| 63 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.24756287 |
| 64 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 1.23161796 |
| 65 | CTCF_21964334_Chip-Seq_Bcells_Human | 1.22826030 |
| 66 | RARA_24833708_ChIP-Seq_LIVER_Mouse | 1.22281576 |
| 67 | GATA1_19941826_ChIP-Seq_K562_Human | 1.19851417 |
| 68 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.19442587 |
| 69 | PKCTHETA_26484144_Chip-Seq_BREAST_Human | 1.18470787 |
| 70 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.17707003 |
| 71 | BCL3_23251550_ChIP-Seq_MUSCLE_Mouse | 1.17288719 |
| 72 | SA1_27219007_Chip-Seq_Bcells_Human | 1.15845506 |
| 73 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.15636352 |
| 74 | ELF5_23300383_ChIP-Seq_T47D_Human | 1.15329687 |
| 75 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 1.15123836 |
| 76 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.14790455 |
| 77 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.14682173 |
| 78 | ESR1_15608294_ChIP-ChIP_MCF-7_Human | 1.13634046 |
| 79 | RACK7_27058665_Chip-Seq_MCF-7_Human | 1.13382843 |
| 80 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.09708064 |
| 81 | GATA3_20176728_ChIP-ChIP_TSCs_Mouse | 1.09079059 |
| 82 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.07390529 |
| 83 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.05969938 |
| 84 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.05348525 |
| 85 | FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.04858033 |
| 86 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.04429301 |
| 87 | STAT1_20625510_ChIP-Seq_HELA_Human | 1.02947909 |
| 88 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.01546245 |
| 89 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.00198786 |
| 90 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 0.99618402 |
| 91 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 0.99237261 |
| 92 | CREB1_26743006_Chip-Seq_LNCaP-abl_Human | 0.97803443 |
| 93 | OCT4_20526341_ChIP-Seq_ESCs_Human | 0.97056627 |
| 94 | ZFX_18555785_ChIP-Seq_MESCs_Mouse | 0.96871738 |
| 95 | EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human | 0.96750284 |
| 96 | CTCF_27219007_Chip-Seq_ERYTHROID_Human | 0.96031327 |
| 97 | TAF2_19829295_ChIP-Seq_ESCs_Human | 0.95059652 |
| 98 | HOXB7_26014856_ChIP-Seq_BT474_Human | 0.94846359 |
| 99 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 0.94657187 |
| 100 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 0.92852646 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 7.96917024 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 3.74239001 |
| 3 | MP0003878_abnormal_ear_physiology | 3.74239001 |
| 4 | MP0003698_abnormal_male_reproductive | 3.64122238 |
| 5 | MP0001929_abnormal_gametogenesis | 3.54264056 |
| 6 | MP0000678_abnormal_parathyroid_gland | 3.39510631 |
| 7 | MP0010234_abnormal_vibrissa_follicle | 3.06043210 |
| 8 | MP0003718_maternal_effect | 2.83806601 |
| 9 | MP0002210_abnormal_sex_determination | 2.66764637 |
| 10 | MP0003693_abnormal_embryo_hatching | 2.63358772 |
| 11 | MP0008995_early_reproductive_senescence | 2.44786336 |
| 12 | MP0004957_abnormal_blastocyst_morpholog | 2.24855784 |
| 13 | MP0005083_abnormal_biliary_tract | 2.24282676 |
| 14 | MP0002161_abnormal_fertility/fecundity | 2.21395201 |
| 15 | MP0000372_irregular_coat_pigmentation | 2.14644424 |
| 16 | MP0004233_abnormal_muscle_weight | 2.09636460 |
| 17 | MP0001145_abnormal_male_reproductive | 2.03613992 |
| 18 | MP0008877_abnormal_DNA_methylation | 2.00056612 |
| 19 | MP0001348_abnormal_lacrimal_gland | 1.99345397 |
| 20 | MP0008058_abnormal_DNA_repair | 1.94186717 |
| 21 | MP0005670_abnormal_white_adipose | 1.94149911 |
| 22 | MP0005451_abnormal_body_composition | 1.93529304 |
| 23 | MP0003077_abnormal_cell_cycle | 1.91606679 |
| 24 | MP0000653_abnormal_sex_gland | 1.89052589 |
| 25 | MP0002132_abnormal_respiratory_system | 1.78950903 |
| 26 | MP0005310_abnormal_salivary_gland | 1.71795670 |
| 27 | MP0002796_impaired_skin_barrier | 1.71101750 |
| 28 | MP0003123_paternal_imprinting | 1.62324218 |
| 29 | MP0004147_increased_porphyrin_level | 1.60713957 |
| 30 | MP0002249_abnormal_larynx_morphology | 1.55267385 |
| 31 | MP0003111_abnormal_nucleus_morphology | 1.55153093 |
| 32 | MP0003786_premature_aging | 1.50452244 |
| 33 | MP0001188_hyperpigmentation | 1.42885243 |
| 34 | MP0000681_abnormal_thyroid_gland | 1.38346850 |
| 35 | MP0005423_abnormal_somatic_nervous | 1.35512279 |
| 36 | MP0010094_abnormal_chromosome_stability | 1.34296965 |
| 37 | MP0009697_abnormal_copulation | 1.26815294 |
| 38 | MP0003646_muscle_fatigue | 1.25298110 |
| 39 | MP0004264_abnormal_extraembryonic_tissu | 1.19466320 |
| 40 | MP0005395_other_phenotype | 1.17331231 |
| 41 | MP0003699_abnormal_female_reproductive | 1.17075068 |
| 42 | MP0003936_abnormal_reproductive_system | 1.14013876 |
| 43 | MP0003136_yellow_coat_color | 1.13121665 |
| 44 | MP0006036_abnormal_mitochondrial_physio | 1.11975682 |
| 45 | MP0005397_hematopoietic_system_phenotyp | 1.09273181 |
| 46 | MP0001545_abnormal_hematopoietic_system | 1.09273181 |
| 47 | MP0005636_abnormal_mineral_homeostasis | 1.09147830 |
| 48 | MP0003011_delayed_dark_adaptation | 1.06733628 |
| 49 | MP0004885_abnormal_endolymph | 1.06394251 |
| 50 | MP0005408_hypopigmentation | 1.05802756 |
| 51 | MP0001672_abnormal_embryogenesis/_devel | 1.05148687 |
| 52 | MP0005380_embryogenesis_phenotype | 1.05148687 |
| 53 | MP0001666_abnormal_nutrient_absorption | 1.04951097 |
| 54 | MP0002234_abnormal_pharynx_morphology | 1.04707864 |
| 55 | MP0001881_abnormal_mammary_gland | 1.02353332 |
| 56 | MP0008932_abnormal_embryonic_tissue | 1.00677299 |
| 57 | MP0005058_abnormal_lysosome_morphology | 0.99831667 |
| 58 | MP0004019_abnormal_vitamin_homeostasis | 0.98133247 |
| 59 | MP0008057_abnormal_DNA_replication | 0.97600419 |
| 60 | MP0002160_abnormal_reproductive_system | 0.96189189 |
| 61 | MP0004381_abnormal_hair_follicle | 0.94431182 |
| 62 | MP0000350_abnormal_cell_proliferation | 0.94141269 |
| 63 | MP0006035_abnormal_mitochondrial_morpho | 0.93748053 |
| 64 | MP0000313_abnormal_cell_death | 0.93293986 |
| 65 | MP0001765_abnormal_ion_homeostasis | 0.91239939 |
| 66 | MP0002080_prenatal_lethality | 0.90846054 |
| 67 | MP0001730_embryonic_growth_arrest | 0.89364235 |
| 68 | MP0006292_abnormal_olfactory_placode | 0.89087837 |
| 69 | MP0005379_endocrine/exocrine_gland_phen | 0.89037536 |
| 70 | MP0003656_abnormal_erythrocyte_physiolo | 0.88940397 |
| 71 | MP0005501_abnormal_skin_physiology | 0.84804812 |
| 72 | MP0000647_abnormal_sebaceous_gland | 0.83458527 |
| 73 | MP0002098_abnormal_vibrissa_morphology | 0.83426918 |
| 74 | MP0001697_abnormal_embryo_size | 0.82441860 |
| 75 | MP0001873_stomach_inflammation | 0.79320427 |
| 76 | MP0003984_embryonic_growth_retardation | 0.79056862 |
| 77 | MP0002088_abnormal_embryonic_growth/wei | 0.77192777 |
| 78 | MP0010678_abnormal_skin_adnexa | 0.74179826 |
| 79 | MP0002085_abnormal_embryonic_tissue | 0.74112212 |
| 80 | MP0000566_synostosis | 0.72806731 |
| 81 | MP0003879_abnormal_hair_cell | 0.71686624 |
| 82 | MP0010307_abnormal_tumor_latency | 0.71315772 |
| 83 | MP0000358_abnormal_cell_content/ | 0.71018850 |
| 84 | MP0005647_abnormal_sex_gland | 0.70944975 |
| 85 | MP0001346_abnormal_lacrimal_gland | 0.69996179 |
| 86 | MP0001968_abnormal_touch/_nociception | 0.69953653 |
| 87 | MP0002269_muscular_atrophy | 0.68667344 |
| 88 | MP0008007_abnormal_cellular_replicative | 0.68006896 |
| 89 | MP0004782_abnormal_surfactant_physiolog | 0.66328715 |
| 90 | MP0001119_abnormal_female_reproductive | 0.66196626 |
| 91 | MP0005075_abnormal_melanosome_morpholog | 0.64411338 |
| 92 | MP0000427_abnormal_hair_cycle | 0.64365901 |
| 93 | MP0003186_abnormal_redox_activity | 0.62876018 |
| 94 | MP0002127_abnormal_cardiovascular_syste | 0.62632328 |
| 95 | MP0000627_abnormal_mammary_gland | 0.62365098 |
| 96 | MP0002229_neurodegeneration | 0.61091346 |
| 97 | MP0004145_abnormal_muscle_electrophysio | 0.59854438 |
| 98 | MP0003942_abnormal_urinary_system | 0.58612020 |
| 99 | MP0000377_abnormal_hair_follicle | 0.56667182 |
| 100 | MP0008770_decreased_survivor_rate | 0.56281204 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 4.83981866 |
| 2 | Hyperthyroidism (HP:0000836) | 4.63072427 |
| 3 | Truncus arteriosus (HP:0001660) | 4.54313190 |
| 4 | Tubulointerstitial nephritis (HP:0001970) | 4.35061153 |
| 5 | Male infertility (HP:0003251) | 4.21052402 |
| 6 | Hypoparathyroidism (HP:0000829) | 4.13738557 |
| 7 | Abnormality of the heme biosynthetic pathway (HP:0010472) | 4.00520139 |
| 8 | Reticulocytosis (HP:0001923) | 3.87699322 |
| 9 | Abnormal hemoglobin (HP:0011902) | 3.78606721 |
| 10 | Azoospermia (HP:0000027) | 3.71725186 |
| 11 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.54294133 |
| 12 | Seborrheic dermatitis (HP:0001051) | 3.50623082 |
| 13 | Pili torti (HP:0003777) | 3.41353291 |
| 14 | Hyperkalemia (HP:0002153) | 3.41016119 |
| 15 | Bell-shaped thorax (HP:0001591) | 3.39118590 |
| 16 | Bowel incontinence (HP:0002607) | 3.29924017 |
| 17 | Abnormality of the aortic arch (HP:0012303) | 3.28393727 |
| 18 | Resting tremor (HP:0002322) | 3.22504984 |
| 19 | Abnormal large intestine physiology (HP:0012700) | 3.13338091 |
| 20 | Infertility (HP:0000789) | 3.05176288 |
| 21 | Abnormality of reticulocytes (HP:0004312) | 3.03225420 |
| 22 | Atelectasis (HP:0100750) | 2.95434645 |
| 23 | Abnormal spermatogenesis (HP:0008669) | 2.94901307 |
| 24 | Hypertensive crisis (HP:0100735) | 2.94508992 |
| 25 | Ileus (HP:0002595) | 2.93890284 |
| 26 | Absent/shortened dynein arms (HP:0200106) | 2.92088344 |
| 27 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 2.92088344 |
| 28 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 2.85349537 |
| 29 | Flattened epiphyses (HP:0003071) | 2.83225278 |
| 30 | Generalized aminoaciduria (HP:0002909) | 2.68576359 |
| 31 | Curly hair (HP:0002212) | 2.67466278 |
| 32 | Bony spicule pigmentary retinopathy (HP:0007737) | 2.61102491 |
| 33 | Abnormal gallbladder physiology (HP:0012438) | 2.59015158 |
| 34 | Cholecystitis (HP:0001082) | 2.59015158 |
| 35 | Renal dysplasia (HP:0000110) | 2.56823978 |
| 36 | Congenital malformation of the right heart (HP:0011723) | 2.52086433 |
| 37 | Double outlet right ventricle (HP:0001719) | 2.52086433 |
| 38 | Septate vagina (HP:0001153) | 2.49692449 |
| 39 | Pallor (HP:0000980) | 2.47836888 |
| 40 | Tinnitus (HP:0000360) | 2.46656133 |
| 41 | Abnormality of macular pigmentation (HP:0008002) | 2.44266113 |
| 42 | Hyponatremia (HP:0002902) | 2.42535200 |
| 43 | Abnormality of long-chain fatty-acid metabolism (HP:0010964) | 2.38772291 |
| 44 | Enlarged epiphyses (HP:0010580) | 2.32131466 |
| 45 | Renal Fanconi syndrome (HP:0001994) | 2.31439681 |
| 46 | Abnormality of the tricuspid valve (HP:0001702) | 2.30519615 |
| 47 | Unilateral renal agenesis (HP:0000122) | 2.26720696 |
| 48 | Abnormality of lateral ventricle (HP:0030047) | 2.23219365 |
| 49 | Amelogenesis imperfecta (HP:0000705) | 2.19798250 |
| 50 | Nasal polyposis (HP:0100582) | 2.19426646 |
| 51 | Osteomalacia (HP:0002749) | 2.15806176 |
| 52 | Impulsivity (HP:0100710) | 2.08744941 |
| 53 | Decreased central vision (HP:0007663) | 2.08636142 |
| 54 | Abnormality of fatty-acid metabolism (HP:0004359) | 2.07319914 |
| 55 | Abnormality of chloride homeostasis (HP:0011422) | 2.01268689 |
| 56 | Abnormality of the parathyroid morphology (HP:0011766) | 2.00059677 |
| 57 | Attenuation of retinal blood vessels (HP:0007843) | 1.99501843 |
| 58 | Submucous cleft hard palate (HP:0000176) | 1.96601838 |
| 59 | Abnormality of the gallbladder (HP:0005264) | 1.95287616 |
| 60 | Cholelithiasis (HP:0001081) | 1.95232416 |
| 61 | Tetany (HP:0001281) | 1.94167159 |
| 62 | Concave nail (HP:0001598) | 1.92834215 |
| 63 | Cone-rod dystrophy (HP:0000548) | 1.92454275 |
| 64 | Abnormally folded helix (HP:0008544) | 1.91662239 |
| 65 | Abnormal ciliary motility (HP:0012262) | 1.91533390 |
| 66 | Hand muscle atrophy (HP:0009130) | 1.86702753 |
| 67 | Microretrognathia (HP:0000308) | 1.84464608 |
| 68 | Abnormal rod and cone electroretinograms (HP:0008323) | 1.84375977 |
| 69 | Widely patent fontanelles and sutures (HP:0004492) | 1.83721702 |
| 70 | Abnormal respiratory motile cilium physiology (HP:0012261) | 1.83347871 |
| 71 | Abnormal respiratory motile cilium morphology (HP:0005938) | 1.82014767 |
| 72 | Abnormal respiratory epithelium morphology (HP:0012253) | 1.82014767 |
| 73 | Abnormal hair laboratory examination (HP:0003328) | 1.81140932 |
| 74 | Glycosuria (HP:0003076) | 1.78694790 |
| 75 | Abnormality of urine glucose concentration (HP:0011016) | 1.78694790 |
| 76 | Poikilocytosis (HP:0004447) | 1.75535599 |
| 77 | Abnormality of sulfur amino acid metabolism (HP:0004339) | 1.72962063 |
| 78 | Postural instability (HP:0002172) | 1.71678267 |
| 79 | Abnormal number of erythroid precursors (HP:0012131) | 1.71512460 |
| 80 | Diaphragmatic weakness (HP:0009113) | 1.70835846 |
| 81 | Gout (HP:0001997) | 1.69055261 |
| 82 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 1.68696980 |
| 83 | Hypoplastic ischia (HP:0003175) | 1.68670233 |
| 84 | Abnormality of the costochondral junction (HP:0000919) | 1.68415732 |
| 85 | Myopathic facies (HP:0002058) | 1.68358147 |
| 86 | Abnormal gallbladder morphology (HP:0012437) | 1.67895386 |
| 87 | Aplasia/Hypoplasia of the thymus (HP:0010515) | 1.67742169 |
| 88 | Abnormality of the nasal mucosa (HP:0000433) | 1.67583863 |
| 89 | Abnormality of cells of the erythroid lineage (HP:0012130) | 1.67543143 |
| 90 | Sparse lateral eyebrow (HP:0005338) | 1.66335642 |
| 91 | Abnormality of the fingertips (HP:0001211) | 1.65125486 |
| 92 | Cerebral hypomyelination (HP:0006808) | 1.63693327 |
| 93 | Horizontal nystagmus (HP:0000666) | 1.63327378 |
| 94 | Patellar dislocation (HP:0002999) | 1.62973466 |
| 95 | Hyperbilirubinemia (HP:0002904) | 1.62492747 |
| 96 | Acute encephalopathy (HP:0006846) | 1.62409017 |
| 97 | Ankyloglossia (HP:0010296) | 1.62075332 |
| 98 | Severe Myopia (HP:0011003) | 1.61146458 |
| 99 | Abnormality of dental color (HP:0011073) | 1.60655258 |
| 100 | Cheekbone underdevelopment (HP:0010669) | 1.59965828 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | AKT3 | 5.87922267 |
| 2 | PLK4 | 5.35001190 |
| 3 | TESK1 | 4.22473061 |
| 4 | PNCK | 3.73799673 |
| 5 | BRAF | 2.91461501 |
| 6 | CDK12 | 2.64861308 |
| 7 | PBK | 2.58792415 |
| 8 | DDR2 | 2.35753702 |
| 9 | TRIB3 | 2.25966466 |
| 10 | TESK2 | 2.02752857 |
| 11 | WNK4 | 1.98522483 |
| 12 | PRKD3 | 1.95089382 |
| 13 | CDK7 | 1.79212201 |
| 14 | KSR2 | 1.70024212 |
| 15 | CAMK1G | 1.54829214 |
| 16 | RPS6KB2 | 1.53643647 |
| 17 | MAPK15 | 1.50400228 |
| 18 | PLK2 | 1.48979084 |
| 19 | WEE1 | 1.46418148 |
| 20 | EPHA2 | 1.38559539 |
| 21 | BRD4 | 1.36974829 |
| 22 | INSRR | 1.34088196 |
| 23 | EIF2AK1 | 1.32047283 |
| 24 | MAP3K2 | 1.30565316 |
| 25 | PKN2 | 1.27215895 |
| 26 | MET | 1.27050489 |
| 27 | VRK2 | 1.23784821 |
| 28 | BMX | 1.23268955 |
| 29 | NEK1 | 1.20841642 |
| 30 | BUB1 | 1.19836257 |
| 31 | PDK2 | 1.16793646 |
| 32 | MAP3K8 | 1.16689561 |
| 33 | TTK | 1.15402316 |
| 34 | NEK6 | 1.15058543 |
| 35 | ICK | 1.12228049 |
| 36 | WNK1 | 1.09992687 |
| 37 | MST1R | 1.07667204 |
| 38 | STK38 | 1.06886005 |
| 39 | RIPK4 | 0.99972888 |
| 40 | NME1 | 0.96511937 |
| 41 | MAPKAPK3 | 0.95670363 |
| 42 | AURKA | 0.93363578 |
| 43 | MAP3K9 | 0.90079742 |
| 44 | CHEK1 | 0.89277516 |
| 45 | ILK | 0.83159734 |
| 46 | MAP2K2 | 0.80365079 |
| 47 | PDPK1 | 0.79465300 |
| 48 | SRPK1 | 0.78159968 |
| 49 | MST4 | 0.73103051 |
| 50 | LATS1 | 0.72416956 |
| 51 | IRAK3 | 0.72015507 |
| 52 | MTOR | 0.70609774 |
| 53 | AURKB | 0.70230733 |
| 54 | ERN1 | 0.68879470 |
| 55 | CDK2 | 0.68396512 |
| 56 | MAP4K2 | 0.68012174 |
| 57 | LRRK2 | 0.67608147 |
| 58 | LATS2 | 0.67061429 |
| 59 | ARAF | 0.66899629 |
| 60 | CDK1 | 0.65448900 |
| 61 | TSSK6 | 0.63863594 |
| 62 | SMG1 | 0.63188631 |
| 63 | BRSK1 | 0.63017350 |
| 64 | NTRK3 | 0.61666799 |
| 65 | PRKCI | 0.61454493 |
| 66 | CDK4 | 0.60241081 |
| 67 | DYRK3 | 0.59984282 |
| 68 | NEK2 | 0.58479739 |
| 69 | PRKG2 | 0.56127110 |
| 70 | STK4 | 0.55004239 |
| 71 | TNK2 | 0.53309791 |
| 72 | PDK1 | 0.52292907 |
| 73 | CHEK2 | 0.49715914 |
| 74 | PTK2B | 0.49552441 |
| 75 | RPS6KA4 | 0.48179199 |
| 76 | GSK3B | 0.47283114 |
| 77 | PLK1 | 0.47184476 |
| 78 | RAF1 | 0.46104196 |
| 79 | CDC7 | 0.44483177 |
| 80 | PINK1 | 0.43259056 |
| 81 | ATR | 0.42652345 |
| 82 | SGK1 | 0.42521726 |
| 83 | EEF2K | 0.41865906 |
| 84 | ATM | 0.39351579 |
| 85 | CDK3 | 0.39007029 |
| 86 | STK16 | 0.38723028 |
| 87 | CSNK2A2 | 0.38262808 |
| 88 | STK39 | 0.37451550 |
| 89 | PAK1 | 0.36300769 |
| 90 | MARK2 | 0.36111566 |
| 91 | CDK11A | 0.35771534 |
| 92 | SGK223 | 0.34697001 |
| 93 | SGK494 | 0.34697001 |
| 94 | TRIM28 | 0.34609061 |
| 95 | RPS6KA1 | 0.33520378 |
| 96 | CSNK1E | 0.33280474 |
| 97 | RET | 0.32354896 |
| 98 | CAMK1 | 0.32318311 |
| 99 | DYRK1B | 0.32128624 |
| 100 | PTK6 | 0.29603797 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 3.70199477 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 3.70191586 |
| 3 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 2.86326884 |
| 4 | RNA transport_Homo sapiens_hsa03013 | 2.80110806 |
| 5 | Ribosome_Homo sapiens_hsa03010 | 2.35341633 |
| 6 | Sulfur relay system_Homo sapiens_hsa04122 | 2.31804802 |
| 7 | Tyrosine metabolism_Homo sapiens_hsa00350 | 2.31598071 |
| 8 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 2.17139379 |
| 9 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 2.10581825 |
| 10 | Homologous recombination_Homo sapiens_hsa03440 | 2.06454959 |
| 11 | Basal transcription factors_Homo sapiens_hsa03022 | 2.05483539 |
| 12 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 2.00497788 |
| 13 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.96379384 |
| 14 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.92022561 |
| 15 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.82443418 |
| 16 | DNA replication_Homo sapiens_hsa03030 | 1.78547914 |
| 17 | Olfactory transduction_Homo sapiens_hsa04740 | 1.76888613 |
| 18 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.73901542 |
| 19 | Mismatch repair_Homo sapiens_hsa03430 | 1.69131909 |
| 20 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 1.56473366 |
| 21 | Spliceosome_Homo sapiens_hsa03040 | 1.53764269 |
| 22 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.52048586 |
| 23 | Thyroid cancer_Homo sapiens_hsa05216 | 1.46433060 |
| 24 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 1.46200624 |
| 25 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.46142735 |
| 26 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.45349144 |
| 27 | Folate biosynthesis_Homo sapiens_hsa00790 | 1.44365162 |
| 28 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.44332347 |
| 29 | Huntingtons disease_Homo sapiens_hsa05016 | 1.41400012 |
| 30 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.40252696 |
| 31 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 1.39886319 |
| 32 | RNA polymerase_Homo sapiens_hsa03020 | 1.39252766 |
| 33 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.34691869 |
| 34 | Cell cycle_Homo sapiens_hsa04110 | 1.26674582 |
| 35 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.26386589 |
| 36 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 1.26173470 |
| 37 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 1.24586664 |
| 38 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 1.24336206 |
| 39 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.23420325 |
| 40 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.21660206 |
| 41 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 1.17288242 |
| 42 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.12300292 |
| 43 | Taste transduction_Homo sapiens_hsa04742 | 1.10827079 |
| 44 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 1.09561072 |
| 45 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.08881547 |
| 46 | Histidine metabolism_Homo sapiens_hsa00340 | 1.05103908 |
| 47 | Carbon metabolism_Homo sapiens_hsa01200 | 1.01940482 |
| 48 | Parkinsons disease_Homo sapiens_hsa05012 | 1.01081946 |
| 49 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.99724405 |
| 50 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.98982850 |
| 51 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.95634541 |
| 52 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.93446616 |
| 53 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.92930628 |
| 54 | Purine metabolism_Homo sapiens_hsa00230 | 0.88238780 |
| 55 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.82699047 |
| 56 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.82382883 |
| 57 | Base excision repair_Homo sapiens_hsa03410 | 0.80350094 |
| 58 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.78963667 |
| 59 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.78610669 |
| 60 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.75494830 |
| 61 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.75268032 |
| 62 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.74468355 |
| 63 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.73437100 |
| 64 | Peroxisome_Homo sapiens_hsa04146 | 0.73038882 |
| 65 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.71248890 |
| 66 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.70021131 |
| 67 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.68664266 |
| 68 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.67820283 |
| 69 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.65953997 |
| 70 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.64834399 |
| 71 | Metabolic pathways_Homo sapiens_hsa01100 | 0.62093382 |
| 72 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.59632382 |
| 73 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.58899700 |
| 74 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.58259520 |
| 75 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.57995495 |
| 76 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.54909859 |
| 77 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.53789464 |
| 78 | Bladder cancer_Homo sapiens_hsa05219 | 0.53505580 |
| 79 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.52351191 |
| 80 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.51615292 |
| 81 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.50713004 |
| 82 | Other glycan degradation_Homo sapiens_hsa00511 | 0.50564989 |
| 83 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.46155250 |
| 84 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.45278964 |
| 85 | RNA degradation_Homo sapiens_hsa03018 | 0.44215100 |
| 86 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.43169738 |
| 87 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.40977849 |
| 88 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.39534701 |
| 89 | Proteasome_Homo sapiens_hsa03050 | 0.37132303 |
| 90 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.35060555 |
| 91 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.34340612 |
| 92 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.33923872 |
| 93 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.33266784 |
| 94 | Prostate cancer_Homo sapiens_hsa05215 | 0.30621371 |
| 95 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.30311243 |
| 96 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.29278718 |
| 97 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.28860151 |
| 98 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 0.28695508 |
| 99 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.27930470 |
| 100 | Endometrial cancer_Homo sapiens_hsa05213 | 0.25109191 |

