

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm motility (GO:0030317) | 9.97217875 |
| 2 | response to pheromone (GO:0019236) | 8.65250455 |
| 3 | gonadal mesoderm development (GO:0007506) | 8.65176962 |
| 4 | chromosome condensation (GO:0030261) | 8.62012298 |
| 5 | plasma membrane fusion (GO:0045026) | 8.41012752 |
| 6 | DNA packaging (GO:0006323) | 8.13933174 |
| 7 | sperm capacitation (GO:0048240) | 7.68798867 |
| 8 | rRNA methylation (GO:0031167) | 7.01234677 |
| 9 | microtubule depolymerization (GO:0007019) | 7.01154275 |
| 10 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 6.92408055 |
| 11 | sperm-egg recognition (GO:0035036) | 6.92091385 |
| 12 | spermatid development (GO:0007286) | 6.89192169 |
| 13 | spermatid nucleus differentiation (GO:0007289) | 6.87781096 |
| 14 | single strand break repair (GO:0000012) | 6.79102074 |
| 15 | multicellular organism reproduction (GO:0032504) | 6.54240748 |
| 16 | binding of sperm to zona pellucida (GO:0007339) | 6.41208893 |
| 17 | rRNA modification (GO:0000154) | 6.30405385 |
| 18 | reproduction (GO:0000003) | 6.14410419 |
| 19 | sexual reproduction (GO:0019953) | 5.89548937 |
| 20 | calcium ion-dependent exocytosis (GO:0017156) | 5.65487330 |
| 21 | spermatogenesis (GO:0007283) | 5.56961626 |
| 22 | male gamete generation (GO:0048232) | 5.54780362 |
| 23 | cell-cell recognition (GO:0009988) | 5.53842925 |
| 24 | one-carbon compound transport (GO:0019755) | 5.42646217 |
| 25 | microtubule polymerization or depolymerization (GO:0031109) | 5.29577634 |
| 26 | gamete generation (GO:0007276) | 5.08269057 |
| 27 | negative regulation of inclusion body assembly (GO:0090084) | 5.06659095 |
| 28 | axonemal dynein complex assembly (GO:0070286) | 4.88864320 |
| 29 | centriole replication (GO:0007099) | 4.73954349 |
| 30 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 4.73360820 |
| 31 | protein polyglutamylation (GO:0018095) | 4.70485197 |
| 32 | regulation of cilium movement (GO:0003352) | 4.55743996 |
| 33 | single fertilization (GO:0007338) | 4.49162983 |
| 34 | phosphatidylethanolamine metabolic process (GO:0046337) | 4.30923005 |
| 35 | centriole assembly (GO:0098534) | 4.24780390 |
| 36 | cellular ketone body metabolic process (GO:0046950) | 4.23428434 |
| 37 | glycerol ether metabolic process (GO:0006662) | 4.16825686 |
| 38 | multicellular organismal reproductive process (GO:0048609) | 4.03958157 |
| 39 | protein targeting to Golgi (GO:0000042) | 3.97648946 |
| 40 | positive regulation of Rab GTPase activity (GO:0032851) | 3.96111795 |
| 41 | regulation of Rab GTPase activity (GO:0032313) | 3.96111795 |
| 42 | chromatin silencing (GO:0006342) | 3.88760210 |
| 43 | motile cilium assembly (GO:0044458) | 3.85506967 |
| 44 | ether metabolic process (GO:0018904) | 3.84583629 |
| 45 | microtubule severing (GO:0051013) | 3.82212494 |
| 46 | regulation of centriole replication (GO:0046599) | 3.76320729 |
| 47 | establishment of protein localization to Golgi (GO:0072600) | 3.75488448 |
| 48 | germ cell development (GO:0007281) | 3.74132077 |
| 49 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 3.73710936 |
| 50 | ketone body metabolic process (GO:1902224) | 3.72787890 |
| 51 | cell wall macromolecule catabolic process (GO:0016998) | 3.67072271 |
| 52 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.65698052 |
| 53 | coenzyme catabolic process (GO:0009109) | 3.54299375 |
| 54 | regulation of inclusion body assembly (GO:0090083) | 3.53500506 |
| 55 | cell wall macromolecule metabolic process (GO:0044036) | 3.51408772 |
| 56 | peptidyl-proline hydroxylation (GO:0019511) | 3.50647368 |
| 57 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 3.50456987 |
| 58 | cranial nerve morphogenesis (GO:0021602) | 3.47733022 |
| 59 | nucleus organization (GO:0006997) | 3.44586367 |
| 60 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.43740600 |
| 61 | pattern specification involved in kidney development (GO:0061004) | 3.43440506 |
| 62 | hepatocyte apoptotic process (GO:0097284) | 3.42655029 |
| 63 | seminiferous tubule development (GO:0072520) | 3.42210700 |
| 64 | fertilization (GO:0009566) | 3.33738347 |
| 65 | receptor recycling (GO:0001881) | 3.32296486 |
| 66 | neutrophil activation involved in immune response (GO:0002283) | 3.14804199 |
| 67 | kidney mesenchyme development (GO:0072074) | 3.11091357 |
| 68 | positive regulation of T cell mediated cytotoxicity (GO:0001916) | 3.10386780 |
| 69 | positive regulation of endothelial cell differentiation (GO:0045603) | 3.09054480 |
| 70 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 3.08625213 |
| 71 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 3.08625213 |
| 72 | innate immune response in mucosa (GO:0002227) | 3.07873594 |
| 73 | left/right axis specification (GO:0070986) | 3.07596952 |
| 74 | metanephric mesenchyme development (GO:0072075) | 3.04744879 |
| 75 | ATP synthesis coupled proton transport (GO:0015986) | 3.04293783 |
| 76 | energy coupled proton transport, down electrochemical gradient (GO:0015985) | 3.04293783 |
| 77 | protein localization to Golgi apparatus (GO:0034067) | 3.03759646 |
| 78 | proteasome assembly (GO:0043248) | 3.00101709 |
| 79 | negative regulation of gene silencing (GO:0060969) | 2.95428424 |
| 80 | polyamine biosynthetic process (GO:0006596) | 2.94756821 |
| 81 | histone mRNA metabolic process (GO:0008334) | 2.93368359 |
| 82 | 4-hydroxyproline metabolic process (GO:0019471) | 2.93015088 |
| 83 | outer ear morphogenesis (GO:0042473) | 2.90905746 |
| 84 | musculoskeletal movement (GO:0050881) | 2.90058411 |
| 85 | multicellular organismal movement (GO:0050879) | 2.90058411 |
| 86 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 2.89668637 |
| 87 | spliceosomal complex assembly (GO:0000245) | 2.88444147 |
| 88 | regulation of interleukin-13 production (GO:0032656) | 2.87070878 |
| 89 | histone exchange (GO:0043486) | 2.86050944 |
| 90 | mitochondrial fission (GO:0000266) | 2.85132919 |
| 91 | membrane protein intracellular domain proteolysis (GO:0031293) | 2.81828380 |
| 92 | meiosis I (GO:0007127) | 2.80199080 |
| 93 | RNA destabilization (GO:0050779) | 2.79848279 |
| 94 | viral transcription (GO:0019083) | 2.78777973 |
| 95 | respiratory electron transport chain (GO:0022904) | 2.76296528 |
| 96 | protein refolding (GO:0042026) | 2.74894795 |
| 97 | nucleosome disassembly (GO:0006337) | 2.74605391 |
| 98 | protein-DNA complex disassembly (GO:0032986) | 2.74605391 |
| 99 | fusion of sperm to egg plasma membrane (GO:0007342) | 11.0875101 |
| 100 | acrosome reaction (GO:0007340) | 10.9246139 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 6.27419676 |
| 2 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 5.84874831 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.61351221 |
| 4 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.91013137 |
| 5 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 2.74374743 |
| 6 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.73245709 |
| 7 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 2.47919217 |
| 8 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 2.33506833 |
| 9 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 2.29862928 |
| 10 | BCL6_27268052_Chip-Seq_Bcells_Human | 2.26940340 |
| 11 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 2.17377812 |
| 12 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 2.09428774 |
| 13 | FUS_26573619_Chip-Seq_HEK293_Human | 2.06509871 |
| 14 | CTCF_20526341_ChIP-Seq_ESCs_Human | 2.02979612 |
| 15 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.99501045 |
| 16 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.98578147 |
| 17 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.98206420 |
| 18 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.96065798 |
| 19 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.95291155 |
| 20 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.92590045 |
| 21 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.91860010 |
| 22 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.89941432 |
| 23 | ERA_21632823_ChIP-Seq_H3396_Human | 1.86501605 |
| 24 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.86094408 |
| 25 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.86094408 |
| 26 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.85918037 |
| 27 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.85633626 |
| 28 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.84891095 |
| 29 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.84298810 |
| 30 | P300_27268052_Chip-Seq_Bcells_Human | 1.80295118 |
| 31 | P68_20966046_ChIP-Seq_HELA_Human | 1.77553102 |
| 32 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.77171333 |
| 33 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.77011576 |
| 34 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.73724878 |
| 35 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 1.64053670 |
| 36 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.62486184 |
| 37 | CSB_26484114_Chip-Seq_FIBROBLAST_Human | 1.60239144 |
| 38 | JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.59507986 |
| 39 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.56980220 |
| 40 | SA1_27219007_Chip-Seq_Bcells_Human | 1.55820965 |
| 41 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.55649606 |
| 42 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.54352495 |
| 43 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.51331345 |
| 44 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.49345304 |
| 45 | STAT1_20625510_ChIP-Seq_HELA_Human | 1.48362931 |
| 46 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.47840386 |
| 47 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.47391125 |
| 48 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.46989274 |
| 49 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.46989274 |
| 50 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.39281555 |
| 51 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.36313895 |
| 52 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.35713368 |
| 53 | JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.35258497 |
| 54 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.32931264 |
| 55 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.32477577 |
| 56 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.31169967 |
| 57 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.29014318 |
| 58 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.28996147 |
| 59 | SALL4_22934838_ChIP-ChIP_CD34+_Human | 1.27547283 |
| 60 | SPI1_20517297_ChIP-Seq_HL60_Human | 1.27246807 |
| 61 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 1.24967432 |
| 62 | CEBPB_24764292_ChIP-Seq_MC3T3_Mouse | 1.24584813 |
| 63 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.24121310 |
| 64 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.22444778 |
| 65 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.21432364 |
| 66 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.20888027 |
| 67 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.20109192 |
| 68 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.18432314 |
| 69 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.18251326 |
| 70 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.17910974 |
| 71 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.14930312 |
| 72 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.13396826 |
| 73 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 1.12995347 |
| 74 | FOXP1_21924763_ChIP-Seq_HESCs_Human | 1.12346453 |
| 75 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.11343591 |
| 76 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.09777456 |
| 77 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 1.07093780 |
| 78 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.06019098 |
| 79 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.04971018 |
| 80 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 1.03202926 |
| 81 | SOX2_21211035_ChIP-Seq_LN229_Human | 1.02603408 |
| 82 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.02398636 |
| 83 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.02398636 |
| 84 | FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.02064976 |
| 85 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.01678914 |
| 86 | CTCF_21964334_Chip-Seq_Bcells_Human | 1.01281846 |
| 87 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 0.99820789 |
| 88 | * ATF3_23680149_ChIP-Seq_GBM1-GSC_Human | 0.99722922 |
| 89 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 0.99392279 |
| 90 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 0.98638408 |
| 91 | * CJUN_26792858_Chip-Seq_BT549_Human | 0.97726916 |
| 92 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 0.95271514 |
| 93 | ELK1_22589737_ChIP-Seq_MCF10A_Human | 0.94117370 |
| 94 | NFYB_21822215_ChIP-Seq_K562_Human | 0.93216329 |
| 95 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 0.92143295 |
| 96 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 0.91975930 |
| 97 | NFYA_21822215_ChIP-Seq_K562_Human | 0.91665249 |
| 98 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 0.91418059 |
| 99 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 0.90895680 |
| 100 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 0.90629545 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005670_abnormal_white_adipose | 5.07030385 |
| 2 | MP0000516_abnormal_urinary_system | 3.76213725 |
| 3 | MP0005367_renal/urinary_system_phenotyp | 3.76213725 |
| 4 | MP0001348_abnormal_lacrimal_gland | 3.56489782 |
| 5 | MP0003698_abnormal_male_reproductive | 3.53374356 |
| 6 | MP0003011_delayed_dark_adaptation | 3.38288508 |
| 7 | MP0003646_muscle_fatigue | 3.35244615 |
| 8 | MP0002837_dystrophic_cardiac_calcinosis | 3.13655748 |
| 9 | MP0001929_abnormal_gametogenesis | 3.11962911 |
| 10 | MP0003878_abnormal_ear_physiology | 3.00517322 |
| 11 | MP0005377_hearing/vestibular/ear_phenot | 3.00517322 |
| 12 | MP0008995_early_reproductive_senescence | 2.49159420 |
| 13 | MP0009379_abnormal_foot_pigmentation | 2.14121873 |
| 14 | MP0005379_endocrine/exocrine_gland_phen | 2.13007643 |
| 15 | MP0002234_abnormal_pharynx_morphology | 2.11884711 |
| 16 | MP0000534_abnormal_ureter_morphology | 2.10040394 |
| 17 | MP0005410_abnormal_fertilization | 11.0038308 |
| 18 | MP0002161_abnormal_fertility/fecundity | 1.94673526 |
| 19 | MP0009764_decreased_sensitivity_to | 1.88154454 |
| 20 | MP0003718_maternal_effect | 1.82683371 |
| 21 | MP0005408_hypopigmentation | 1.81992944 |
| 22 | MP0003806_abnormal_nucleotide_metabolis | 1.79806191 |
| 23 | MP0000678_abnormal_parathyroid_gland | 1.77092742 |
| 24 | MP0008877_abnormal_DNA_methylation | 1.69462632 |
| 25 | MP0003252_abnormal_bile_duct | 1.62651954 |
| 26 | MP0008775_abnormal_heart_ventricle | 1.48267978 |
| 27 | MP0002282_abnormal_trachea_morphology | 1.47872968 |
| 28 | MP0001853_heart_inflammation | 1.42290315 |
| 29 | MP0004510_myositis | 1.39517019 |
| 30 | MP0002210_abnormal_sex_determination | 1.36762986 |
| 31 | MP0002132_abnormal_respiratory_system | 1.35283886 |
| 32 | MP0002249_abnormal_larynx_morphology | 1.33378900 |
| 33 | MP0009053_abnormal_anal_canal | 1.23665163 |
| 34 | MP0000681_abnormal_thyroid_gland | 1.22981034 |
| 35 | MP0004084_abnormal_cardiac_muscle | 1.19205505 |
| 36 | MP0009697_abnormal_copulation | 1.09868447 |
| 37 | MP0001765_abnormal_ion_homeostasis | 1.08424120 |
| 38 | MP0001145_abnormal_male_reproductive | 1.04933340 |
| 39 | MP0005266_abnormal_metabolism | 1.03100123 |
| 40 | MP0001727_abnormal_embryo_implantation | 1.01125895 |
| 41 | MP0005423_abnormal_somatic_nervous | 1.00421062 |
| 42 | MP0001963_abnormal_hearing_physiology | 1.00029802 |
| 43 | MP0001968_abnormal_touch/_nociception | 0.99691036 |
| 44 | MP0002928_abnormal_bile_duct | 0.99064166 |
| 45 | MP0004742_abnormal_vestibular_system | 0.97472336 |
| 46 | MP0001486_abnormal_startle_reflex | 0.96059715 |
| 47 | MP0000653_abnormal_sex_gland | 0.93531108 |
| 48 | MP0003077_abnormal_cell_cycle | 0.92102499 |
| 49 | MP0005395_other_phenotype | 0.84355065 |
| 50 | MP0003786_premature_aging | 0.82023639 |
| 51 | MP0002735_abnormal_chemical_nociception | 0.78232807 |
| 52 | MP0000049_abnormal_middle_ear | 0.76537480 |
| 53 | MP0006036_abnormal_mitochondrial_physio | 0.75066905 |
| 54 | MP0001756_abnormal_urination | 0.74318191 |
| 55 | MP0003121_genomic_imprinting | 0.73007118 |
| 56 | MP0002332_abnormal_exercise_endurance | 0.72662419 |
| 57 | MP0004036_abnormal_muscle_relaxation | 0.72350037 |
| 58 | MP0001905_abnormal_dopamine_level | 0.72337023 |
| 59 | MP0000026_abnormal_inner_ear | 0.71691065 |
| 60 | MP0003638_abnormal_response/metabolism_ | 0.68896150 |
| 61 | MP0001666_abnormal_nutrient_absorption | 0.67531820 |
| 62 | MP0005636_abnormal_mineral_homeostasis | 0.66468904 |
| 63 | MP0001835_abnormal_antigen_presentation | 0.65488123 |
| 64 | MP0009046_muscle_twitch | 0.60126238 |
| 65 | MP0002733_abnormal_thermal_nociception | 0.59584364 |
| 66 | MP0001485_abnormal_pinna_reflex | 0.59172642 |
| 67 | MP0008789_abnormal_olfactory_epithelium | 0.57061683 |
| 68 | MP0000372_irregular_coat_pigmentation | 0.56806418 |
| 69 | MP0000249_abnormal_blood_vessel | 0.56239014 |
| 70 | MP0005376_homeostasis/metabolism_phenot | 0.55672988 |
| 71 | MP0005332_abnormal_amino_acid | 0.54942533 |
| 72 | MP0002736_abnormal_nociception_after | 0.54430054 |
| 73 | MP0009765_abnormal_xenobiotic_induced | 0.54403136 |
| 74 | MP0002822_catalepsy | 0.53157140 |
| 75 | MP0003936_abnormal_reproductive_system | 0.52593228 |
| 76 | MP0004085_abnormal_heartbeat | 0.50459161 |
| 77 | MP0005319_abnormal_enzyme/_coenzyme | 0.49416097 |
| 78 | MP0005535_abnormal_body_temperature | 0.48975545 |
| 79 | MP0002127_abnormal_cardiovascular_syste | 0.48735607 |
| 80 | MP0005253_abnormal_eye_physiology | 0.48558899 |
| 81 | MP0003879_abnormal_hair_cell | 0.47945792 |
| 82 | MP0009384_cardiac_valve_regurgitation | 0.45927811 |
| 83 | MP0004142_abnormal_muscle_tone | 0.45845477 |
| 84 | MP0003942_abnormal_urinary_system | 0.43740677 |
| 85 | MP0004957_abnormal_blastocyst_morpholog | 0.43701546 |
| 86 | MP0000343_altered_response_to | 0.43478106 |
| 87 | MP0002229_neurodegeneration | 0.43444319 |
| 88 | MP0002163_abnormal_gland_morphology | 0.43357738 |
| 89 | MP0003950_abnormal_plasma_membrane | 0.42921112 |
| 90 | MP0000313_abnormal_cell_death | 0.41570087 |
| 91 | MP0005166_decreased_susceptibility_to | 0.41244547 |
| 92 | MP0001970_abnormal_pain_threshold | 0.40795750 |
| 93 | MP0005551_abnormal_eye_electrophysiolog | 0.40629488 |
| 94 | MP0003693_abnormal_embryo_hatching | 0.39433405 |
| 95 | MP0000230_abnormal_systemic_arterial | 0.38588476 |
| 96 | MP0005075_abnormal_melanosome_morpholog | 0.38238303 |
| 97 | MP0000639_abnormal_adrenal_gland | 0.38031208 |
| 98 | MP0003137_abnormal_impulse_conducting | 0.37928424 |
| 99 | MP0000749_muscle_degeneration | 0.37457285 |
| 100 | MP0005666_abnormal_adipose_tissue | 0.37041610 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 8.39832547 |
| 2 | Male infertility (HP:0003251) | 5.52573486 |
| 3 | Asymmetric septal hypertrophy (HP:0001670) | 4.85792684 |
| 4 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.45448791 |
| 5 | Attenuation of retinal blood vessels (HP:0007843) | 4.35909866 |
| 6 | Absent/shortened dynein arms (HP:0200106) | 4.14721724 |
| 7 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 4.14721724 |
| 8 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.05242750 |
| 9 | Infertility (HP:0000789) | 3.87264024 |
| 10 | Hepatocellular necrosis (HP:0001404) | 3.86970266 |
| 11 | Abnormal ciliary motility (HP:0012262) | 3.79412783 |
| 12 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.65237470 |
| 13 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 3.64686164 |
| 14 | Congenital, generalized hypertrichosis (HP:0004540) | 3.54353197 |
| 15 | Renal Fanconi syndrome (HP:0001994) | 3.52242216 |
| 16 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.49517367 |
| 17 | Spastic paraparesis (HP:0002313) | 3.45933281 |
| 18 | Neonatal short-limb short stature (HP:0008921) | 3.44503455 |
| 19 | Mitochondrial inheritance (HP:0001427) | 3.41704983 |
| 20 | Bell-shaped thorax (HP:0001591) | 3.41648603 |
| 21 | Abnormal spermatogenesis (HP:0008669) | 3.41526359 |
| 22 | Sensory axonal neuropathy (HP:0003390) | 3.40297933 |
| 23 | Resting tremor (HP:0002322) | 3.39434548 |
| 24 | Acute necrotizing encephalopathy (HP:0006965) | 3.16585599 |
| 25 | Nasal polyposis (HP:0100582) | 3.15461603 |
| 26 | Hepatic necrosis (HP:0002605) | 3.14744560 |
| 27 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.08228808 |
| 28 | Abnormality of macular pigmentation (HP:0008002) | 3.07897697 |
| 29 | Abnormal respiratory motile cilium morphology (HP:0005938) | 2.95627564 |
| 30 | Abnormal respiratory epithelium morphology (HP:0012253) | 2.95627564 |
| 31 | Hyperkalemia (HP:0002153) | 2.95511976 |
| 32 | Enlarged epiphyses (HP:0010580) | 2.94841094 |
| 33 | Cone-rod dystrophy (HP:0000548) | 2.91252815 |
| 34 | Hypoplastic ischia (HP:0003175) | 2.88634037 |
| 35 | Azoospermia (HP:0000027) | 2.88164766 |
| 36 | Acute encephalopathy (HP:0006846) | 2.85501740 |
| 37 | Myokymia (HP:0002411) | 2.77031191 |
| 38 | Facial shape deformation (HP:0011334) | 2.74430050 |
| 39 | Potter facies (HP:0002009) | 2.74430050 |
| 40 | Increased CSF lactate (HP:0002490) | 2.72524908 |
| 41 | Progressive macrocephaly (HP:0004481) | 2.71654884 |
| 42 | Generalized aminoaciduria (HP:0002909) | 2.68111234 |
| 43 | Flattened epiphyses (HP:0003071) | 2.67809309 |
| 44 | Abnormal mitochondria in muscle tissue (HP:0008316) | 2.67557757 |
| 45 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 2.53985296 |
| 46 | Subacute progressive viral hepatitis (HP:0006572) | 2.53752156 |
| 47 | Epiphyseal dysplasia (HP:0002656) | 2.52371023 |
| 48 | Hypoplasia of the thymus (HP:0000778) | 2.49504337 |
| 49 | Abnormality of the ischium (HP:0003174) | 2.45845501 |
| 50 | Absent epiphyses (HP:0010577) | 2.42411312 |
| 51 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 2.42411312 |
| 52 | Abnormality of the nasal mucosa (HP:0000433) | 2.40169861 |
| 53 | Cutaneous melanoma (HP:0012056) | 2.38432240 |
| 54 | Optic disc pallor (HP:0000543) | 2.35874443 |
| 55 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.35186936 |
| 56 | Tubulointerstitial nephritis (HP:0001970) | 2.34041275 |
| 57 | Natal tooth (HP:0000695) | 2.30841480 |
| 58 | 3-Methylglutaconic aciduria (HP:0003535) | 2.30116197 |
| 59 | Rhinitis (HP:0012384) | 2.20264798 |
| 60 | Abnormal auditory evoked potentials (HP:0006958) | 2.17915700 |
| 61 | Retinal dysplasia (HP:0007973) | 2.17296154 |
| 62 | Abnormality of renal resorption (HP:0011038) | 2.16466106 |
| 63 | Facial cleft (HP:0002006) | 2.11575540 |
| 64 | Abnormal urine output (HP:0012590) | 2.10634659 |
| 65 | Tetany (HP:0001281) | 2.09166312 |
| 66 | Hypoalphalipoproteinemia (HP:0003233) | 2.06661265 |
| 67 | Abnormality of T cell physiology (HP:0011840) | 2.03039344 |
| 68 | Glycosuria (HP:0003076) | 2.01799605 |
| 69 | Abnormality of urine glucose concentration (HP:0011016) | 2.01799605 |
| 70 | Progressive sensorineural hearing impairment (HP:0000408) | 1.99325522 |
| 71 | Unilateral renal agenesis (HP:0000122) | 1.98218240 |
| 72 | Cone-shaped epiphyses of the phalanges of the hand (HP:0010230) | 1.94799421 |
| 73 | Emotional lability (HP:0000712) | 1.92651276 |
| 74 | Chronic hepatic failure (HP:0100626) | 1.91285784 |
| 75 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.88395073 |
| 76 | Abnormality of dental color (HP:0011073) | 1.86762736 |
| 77 | Stage 5 chronic kidney disease (HP:0003774) | 1.86713177 |
| 78 | Chronic bronchitis (HP:0004469) | 1.84110232 |
| 79 | Flat capital femoral epiphysis (HP:0003370) | 1.82939486 |
| 80 | Short ribs (HP:0000773) | 1.82868599 |
| 81 | Chronic diarrhea (HP:0002028) | 1.82133455 |
| 82 | Micronodular cirrhosis (HP:0001413) | 1.82106915 |
| 83 | Seborrheic dermatitis (HP:0001051) | 1.81100850 |
| 84 | Amniotic constriction ring (HP:0009775) | 1.79653480 |
| 85 | Abnormality of placental membranes (HP:0011409) | 1.79653480 |
| 86 | Abnormality of potassium homeostasis (HP:0011042) | 1.78811333 |
| 87 | Abnormality of renal excretion (HP:0011036) | 1.78062796 |
| 88 | Sclerocornea (HP:0000647) | 1.76395905 |
| 89 | Horizontal nystagmus (HP:0000666) | 1.76355251 |
| 90 | Round ear (HP:0100830) | 1.75478805 |
| 91 | Respiratory failure (HP:0002878) | 1.75209151 |
| 92 | Abnormality of the vertebral endplates (HP:0005106) | 1.73576489 |
| 93 | Hypertriglyceridemia (HP:0002155) | 1.73398569 |
| 94 | Abnormal drinking behavior (HP:0030082) | 1.73304002 |
| 95 | Polydipsia (HP:0001959) | 1.73304002 |
| 96 | Renal dysplasia (HP:0000110) | 1.73005626 |
| 97 | Abnormality of femoral epiphyses (HP:0006499) | 1.72819545 |
| 98 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 1.72819545 |
| 99 | Leukodystrophy (HP:0002415) | 1.71279423 |
| 100 | Polyuria (HP:0000103) | 1.69134277 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 7.06920193 |
| 2 | TESK1 | 5.69726927 |
| 3 | DDR2 | 4.21381970 |
| 4 | INSRR | 3.57728187 |
| 5 | MAP4K2 | 3.49295567 |
| 6 | ARAF | 2.98237488 |
| 7 | MAP3K12 | 2.68197172 |
| 8 | MST1R | 2.58406092 |
| 9 | PLK2 | 2.15862072 |
| 10 | PIK3CG | 2.12267228 |
| 11 | VRK2 | 2.10287166 |
| 12 | TESK2 | 2.07264631 |
| 13 | MYLK | 1.98392135 |
| 14 | CDK19 | 1.92920611 |
| 15 | STK38 | 1.89404728 |
| 16 | STK38L | 1.78687593 |
| 17 | NME2 | 1.73611521 |
| 18 | ABL2 | 1.45436573 |
| 19 | PTK2B | 1.40037286 |
| 20 | CDK7 | 1.34808897 |
| 21 | PNCK | 1.31695794 |
| 22 | PIM2 | 1.31677578 |
| 23 | MAPK15 | 1.29370123 |
| 24 | WNK1 | 1.25167368 |
| 25 | OXSR1 | 1.18821320 |
| 26 | BMPR2 | 1.16057584 |
| 27 | ILK | 1.15913706 |
| 28 | PRKD3 | 1.14975813 |
| 29 | BRD4 | 1.14698040 |
| 30 | PBK | 1.13643679 |
| 31 | FRK | 1.13234715 |
| 32 | PAK4 | 1.11126055 |
| 33 | CDK3 | 1.04786270 |
| 34 | ROCK1 | 1.03321134 |
| 35 | BRAF | 1.03079626 |
| 36 | EPHA2 | 1.02926264 |
| 37 | STK16 | 1.01619421 |
| 38 | MAP3K11 | 0.98319135 |
| 39 | WNK4 | 0.97038163 |
| 40 | LATS2 | 0.96886762 |
| 41 | PDPK1 | 0.93690328 |
| 42 | MOS | 0.84032827 |
| 43 | MET | 0.82079860 |
| 44 | STK39 | 0.74274548 |
| 45 | PDK1 | 0.73933415 |
| 46 | MAP3K9 | 0.72601006 |
| 47 | DYRK1B | 0.71957869 |
| 48 | NEK6 | 0.70326374 |
| 49 | DAPK3 | 0.68380690 |
| 50 | IRAK3 | 0.68375769 |
| 51 | MAP3K13 | 0.65815781 |
| 52 | LMTK2 | 0.62385099 |
| 53 | CDK11A | 0.60661207 |
| 54 | ERBB4 | 0.56368297 |
| 55 | UHMK1 | 0.54601323 |
| 56 | CDK8 | 0.53870880 |
| 57 | EIF2AK1 | 0.53489044 |
| 58 | MUSK | 0.51721765 |
| 59 | MAP3K8 | 0.49918420 |
| 60 | PRKG1 | 0.49349945 |
| 61 | PHKG2 | 0.47959797 |
| 62 | PHKG1 | 0.47959797 |
| 63 | NEK2 | 0.47417121 |
| 64 | RPS6KA2 | 0.46083196 |
| 65 | SRPK1 | 0.45297879 |
| 66 | IKBKB | 0.45032566 |
| 67 | CHEK2 | 0.44010784 |
| 68 | LATS1 | 0.43054655 |
| 69 | CAMK1G | 0.42909776 |
| 70 | PAK1 | 0.42741196 |
| 71 | ERBB3 | 0.41851659 |
| 72 | BUB1 | 0.40656374 |
| 73 | SIK2 | 0.40643100 |
| 74 | PRKG2 | 0.40613821 |
| 75 | MAP2K7 | 0.39925206 |
| 76 | AURKA | 0.38540479 |
| 77 | ZAK | 0.38033649 |
| 78 | CDK4 | 0.37664220 |
| 79 | PLK1 | 0.36840236 |
| 80 | CDK1 | 0.36250473 |
| 81 | BRSK1 | 0.34816561 |
| 82 | LIMK1 | 0.34619843 |
| 83 | ROCK2 | 0.34566663 |
| 84 | VRK1 | 0.33350145 |
| 85 | PASK | 0.32719258 |
| 86 | CDK14 | 0.31599630 |
| 87 | CAMK2G | 0.31060182 |
| 88 | BCR | 0.27133766 |
| 89 | RPS6KA5 | 0.26828326 |
| 90 | DAPK1 | 0.25753867 |
| 91 | RPS6KL1 | 0.24342689 |
| 92 | RPS6KC1 | 0.24342689 |
| 93 | KDR | 0.23922512 |
| 94 | RPS6KA6 | 0.22467609 |
| 95 | CDK12 | 0.21288180 |
| 96 | TAOK2 | 0.21204872 |
| 97 | RPS6KA1 | 0.21178866 |
| 98 | ATR | 0.19898517 |
| 99 | CDK15 | 0.19813392 |
| 100 | PKN1 | 0.19343467 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 4.52402922 |
| 2 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 4.43381019 |
| 3 | Ribosome_Homo sapiens_hsa03010 | 3.83042838 |
| 4 | Parkinsons disease_Homo sapiens_hsa05012 | 3.35291465 |
| 5 | Proteasome_Homo sapiens_hsa03050 | 3.20413462 |
| 6 | Huntingtons disease_Homo sapiens_hsa05016 | 3.09415750 |
| 7 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 2.96409818 |
| 8 | Alzheimers disease_Homo sapiens_hsa05010 | 2.93640224 |
| 9 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 2.81010316 |
| 10 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 2.71641662 |
| 11 | Allograft rejection_Homo sapiens_hsa05330 | 2.71581435 |
| 12 | Graft-versus-host disease_Homo sapiens_hsa05332 | 2.56865365 |
| 13 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 2.51613983 |
| 14 | Viral myocarditis_Homo sapiens_hsa05416 | 2.29981396 |
| 15 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 2.24542063 |
| 16 | Olfactory transduction_Homo sapiens_hsa04740 | 2.17713318 |
| 17 | Homologous recombination_Homo sapiens_hsa03440 | 2.10719117 |
| 18 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.97870893 |
| 19 | DNA replication_Homo sapiens_hsa03030 | 1.96752718 |
| 20 | Mismatch repair_Homo sapiens_hsa03430 | 1.84450252 |
| 21 | RNA transport_Homo sapiens_hsa03013 | 1.79447757 |
| 22 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.66617500 |
| 23 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 1.40852030 |
| 24 | Base excision repair_Homo sapiens_hsa03410 | 1.40154375 |
| 25 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.37263659 |
| 26 | Spliceosome_Homo sapiens_hsa03040 | 1.32195119 |
| 27 | Asthma_Homo sapiens_hsa05310 | 1.25213411 |
| 28 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 1.19637990 |
| 29 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.16936605 |
| 30 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.05468364 |
| 31 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.00158614 |
| 32 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.99494726 |
| 33 | RNA degradation_Homo sapiens_hsa03018 | 0.96640600 |
| 34 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.95544127 |
| 35 | Bladder cancer_Homo sapiens_hsa05219 | 0.93879908 |
| 36 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.93030830 |
| 37 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.92253299 |
| 38 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.91837896 |
| 39 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.80357384 |
| 40 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.80206706 |
| 41 | Taste transduction_Homo sapiens_hsa04742 | 0.77832620 |
| 42 | Salivary secretion_Homo sapiens_hsa04970 | 0.75624918 |
| 43 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.75424374 |
| 44 | RNA polymerase_Homo sapiens_hsa03020 | 0.74300365 |
| 45 | Endocytosis_Homo sapiens_hsa04144 | 0.74010322 |
| 46 | Protein export_Homo sapiens_hsa03060 | 0.73581530 |
| 47 | Purine metabolism_Homo sapiens_hsa00230 | 0.72338548 |
| 48 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.71150670 |
| 49 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.70590839 |
| 50 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.68445609 |
| 51 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.66059125 |
| 52 | Metabolic pathways_Homo sapiens_hsa01100 | 0.62687895 |
| 53 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.60927562 |
| 54 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.60268922 |
| 55 | Basal transcription factors_Homo sapiens_hsa03022 | 0.59958188 |
| 56 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.59293575 |
| 57 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.57188084 |
| 58 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.56114022 |
| 59 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.55858272 |
| 60 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.55679332 |
| 61 | Legionellosis_Homo sapiens_hsa05134 | 0.54148029 |
| 62 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.50616547 |
| 63 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.49604978 |
| 64 | Influenza A_Homo sapiens_hsa05164 | 0.47159458 |
| 65 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.46595559 |
| 66 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.43908728 |
| 67 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.42202203 |
| 68 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.42019398 |
| 69 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.39080785 |
| 70 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.38276797 |
| 71 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.37891781 |
| 72 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.37374437 |
| 73 | Retinol metabolism_Homo sapiens_hsa00830 | 0.37210556 |
| 74 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.35136357 |
| 75 | Phagosome_Homo sapiens_hsa04145 | 0.34611420 |
| 76 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.33669302 |
| 77 | Alcoholism_Homo sapiens_hsa05034 | 0.33003580 |
| 78 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.31383819 |
| 79 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.30084378 |
| 80 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.28886084 |
| 81 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.28199031 |
| 82 | Phototransduction_Homo sapiens_hsa04744 | 0.26038118 |
| 83 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.23838099 |
| 84 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.23012640 |
| 85 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.22140629 |
| 86 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.20878123 |
| 87 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.19717195 |
| 88 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.18144749 |
| 89 | Morphine addiction_Homo sapiens_hsa05032 | 0.17336190 |
| 90 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.16621705 |
| 91 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.16596861 |
| 92 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.15938079 |
| 93 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 0.15115674 |
| 94 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.14930496 |
| 95 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.13801010 |
| 96 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.12173384 |
| 97 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.11788834 |
| 98 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.10435809 |
| 99 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.08137407 |
| 100 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.07382482 |

