

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | fusion of sperm to egg plasma membrane (GO:0007342) | 9.98861580 |
| 2 | chromosome condensation (GO:0030261) | 9.60736848 |
| 3 | DNA packaging (GO:0006323) | 9.48104517 |
| 4 | spermatid development (GO:0007286) | 8.88277401 |
| 5 | spermatid nucleus differentiation (GO:0007289) | 8.66567627 |
| 6 | single strand break repair (GO:0000012) | 8.50721283 |
| 7 | microtubule depolymerization (GO:0007019) | 7.89432840 |
| 8 | response to pheromone (GO:0019236) | 7.87685439 |
| 9 | plasma membrane fusion (GO:0045026) | 7.57353588 |
| 10 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 7.48575680 |
| 11 | negative regulation of inclusion body assembly (GO:0090084) | 7.39727369 |
| 12 | sperm-egg recognition (GO:0035036) | 7.35857742 |
| 13 | sexual reproduction (GO:0019953) | 7.30728169 |
| 14 | protein polyglutamylation (GO:0018095) | 7.29531296 |
| 15 | rRNA methylation (GO:0031167) | 7.26969902 |
| 16 | multicellular organism reproduction (GO:0032504) | 7.00084867 |
| 17 | phosphatidylethanolamine metabolic process (GO:0046337) | 6.90739310 |
| 18 | reproduction (GO:0000003) | 6.83802702 |
| 19 | binding of sperm to zona pellucida (GO:0007339) | 6.71026173 |
| 20 | microtubule severing (GO:0051013) | 6.62252449 |
| 21 | calcium ion-dependent exocytosis (GO:0017156) | 6.43857122 |
| 22 | protein targeting to Golgi (GO:0000042) | 6.34412320 |
| 23 | microtubule polymerization or depolymerization (GO:0031109) | 6.28143394 |
| 24 | axonemal dynein complex assembly (GO:0070286) | 6.19782849 |
| 25 | rRNA modification (GO:0000154) | 6.12099041 |
| 26 | establishment of protein localization to Golgi (GO:0072600) | 6.07327669 |
| 27 | spermatogenesis (GO:0007283) | 6.04645023 |
| 28 | cell-cell recognition (GO:0009988) | 6.04386566 |
| 29 | male gamete generation (GO:0048232) | 6.02567503 |
| 30 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.92301775 |
| 31 | cellular ketone body metabolic process (GO:0046950) | 5.72819869 |
| 32 | regulation of cilium movement (GO:0003352) | 5.67767520 |
| 33 | gamete generation (GO:0007276) | 5.52060136 |
| 34 | regulation of inclusion body assembly (GO:0090083) | 5.31336599 |
| 35 | RNA destabilization (GO:0050779) | 5.09895315 |
| 36 | ketone body metabolic process (GO:1902224) | 5.05664020 |
| 37 | cell wall macromolecule catabolic process (GO:0016998) | 4.97949154 |
| 38 | germ cell development (GO:0007281) | 4.92015069 |
| 39 | motile cilium assembly (GO:0044458) | 4.88455398 |
| 40 | centriole replication (GO:0007099) | 4.86754069 |
| 41 | single fertilization (GO:0007338) | 4.78205114 |
| 42 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.68621137 |
| 43 | regulation of Rab GTPase activity (GO:0032313) | 4.68270790 |
| 44 | positive regulation of Rab GTPase activity (GO:0032851) | 4.68270790 |
| 45 | cell wall macromolecule metabolic process (GO:0044036) | 4.61993229 |
| 46 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.61725679 |
| 47 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.59503708 |
| 48 | chromatin silencing (GO:0006342) | 4.54168255 |
| 49 | regulation of microtubule-based movement (GO:0060632) | 4.53441787 |
| 50 | protein localization to Golgi apparatus (GO:0034067) | 4.51854360 |
| 51 | nucleus organization (GO:0006997) | 4.47881436 |
| 52 | multicellular organismal reproductive process (GO:0048609) | 4.47004843 |
| 53 | centriole assembly (GO:0098534) | 4.45659284 |
| 54 | organic cation transport (GO:0015695) | 4.26118266 |
| 55 | polyamine biosynthetic process (GO:0006596) | 4.19775047 |
| 56 | regulation of somitogenesis (GO:0014807) | 4.17200012 |
| 57 | epithelial cilium movement (GO:0003351) | 4.07885845 |
| 58 | fertilization (GO:0009566) | 3.96217673 |
| 59 | nucleosome disassembly (GO:0006337) | 3.85494356 |
| 60 | protein-DNA complex disassembly (GO:0032986) | 3.85494356 |
| 61 | regulation of centriole replication (GO:0046599) | 3.83661105 |
| 62 | response to acidic pH (GO:0010447) | 3.81174398 |
| 63 | multicellular organismal movement (GO:0050879) | 3.70221342 |
| 64 | musculoskeletal movement (GO:0050881) | 3.70221342 |
| 65 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.64815203 |
| 66 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 3.53612465 |
| 67 | cilium movement (GO:0003341) | 3.53333128 |
| 68 | cellular response to pH (GO:0071467) | 3.50745225 |
| 69 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.48987778 |
| 70 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.48513909 |
| 71 | coenzyme catabolic process (GO:0009109) | 3.45090571 |
| 72 | homeostasis of number of cells within a tissue (GO:0048873) | 3.42192474 |
| 73 | regulation of interleukin-13 production (GO:0032656) | 3.37829962 |
| 74 | cerebral cortex neuron differentiation (GO:0021895) | 3.30907924 |
| 75 | regulation of T-helper 2 cell differentiation (GO:0045628) | 3.28248262 |
| 76 | cranial nerve morphogenesis (GO:0021602) | 3.22338424 |
| 77 | multicellular organismal development (GO:0007275) | 3.20834572 |
| 78 | seminiferous tubule development (GO:0072520) | 3.17685838 |
| 79 | mitochondrial fission (GO:0000266) | 3.14781781 |
| 80 | glycerol ether metabolic process (GO:0006662) | 3.13119731 |
| 81 | histone H3-K9 demethylation (GO:0033169) | 3.10411287 |
| 82 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 3.08046036 |
| 83 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.07239332 |
| 84 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.05414046 |
| 85 | DNA conformation change (GO:0071103) | 3.05285468 |
| 86 | protein depolymerization (GO:0051261) | 2.96769213 |
| 87 | negative regulation of mesenchymal cell apoptotic process (GO:2001054) | 2.95088552 |
| 88 | RNA localization (GO:0006403) | 2.94919326 |
| 89 | genitalia morphogenesis (GO:0035112) | 2.92726830 |
| 90 | mitotic G1 DNA damage checkpoint (GO:0031571) | 2.90030476 |
| 91 | neurofilament cytoskeleton organization (GO:0060052) | 2.89778327 |
| 92 | ether metabolic process (GO:0018904) | 2.88247909 |
| 93 | cell recognition (GO:0008037) | 2.88211064 |
| 94 | microtubule nucleation (GO:0007020) | 2.87812441 |
| 95 | tooth mineralization (GO:0034505) | 2.84731795 |
| 96 | positive regulation of skeletal muscle tissue development (GO:0048643) | 2.80565753 |
| 97 | negative regulation of histone methylation (GO:0031061) | 2.74818526 |
| 98 | sperm motility (GO:0030317) | 12.3842790 |
| 99 | acrosome reaction (GO:0007340) | 12.1628104 |
| 100 | sperm capacitation (GO:0048240) | 10.0204909 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 5.01489509 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.55105721 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.51832873 |
| 4 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.33081207 |
| 5 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.33081207 |
| 6 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.28226332 |
| 7 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 2.21695543 |
| 8 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.11910907 |
| 9 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.07121555 |
| 10 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.02598854 |
| 11 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.02598854 |
| 12 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.00569059 |
| 13 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.96162435 |
| 14 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.92510355 |
| 15 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.92509108 |
| 16 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.89107768 |
| 17 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.88990837 |
| 18 | ERA_21632823_ChIP-Seq_H3396_Human | 1.88828400 |
| 19 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.88262647 |
| 20 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.85161964 |
| 21 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.84430422 |
| 22 | * CTCF_27219007_Chip-Seq_Bcells_Human | 1.81826909 |
| 23 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.77566374 |
| 24 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.75202283 |
| 25 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.73216278 |
| 26 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.72171808 |
| 27 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.71119045 |
| 28 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.70078028 |
| 29 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.69737140 |
| 30 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.67641020 |
| 31 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.64643177 |
| 32 | P68_20966046_ChIP-Seq_HELA_Human | 1.62607679 |
| 33 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.60670376 |
| 34 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.60639828 |
| 35 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.60606045 |
| 36 | FUS_26573619_Chip-Seq_HEK293_Human | 1.59880407 |
| 37 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.51832263 |
| 38 | * LXR_22292898_ChIP-Seq_THP-1_Human | 1.49167093 |
| 39 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.47418035 |
| 40 | * TP63_22573176_ChIP-Seq_HFKS_Human | 1.46337671 |
| 41 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.43851127 |
| 42 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.43280530 |
| 43 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.43280244 |
| 44 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.43117431 |
| 45 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.42610989 |
| 46 | P300_27268052_Chip-Seq_Bcells_Human | 1.41847793 |
| 47 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.40447395 |
| 48 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.40016078 |
| 49 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.39231624 |
| 50 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.38032967 |
| 51 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.37263056 |
| 52 | AR_25329375_ChIP-Seq_VCAP_Human | 1.36968720 |
| 53 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.36603042 |
| 54 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.34988267 |
| 55 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.32808076 |
| 56 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.32803443 |
| 57 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.32714548 |
| 58 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.32341049 |
| 59 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.31782107 |
| 60 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.31244075 |
| 61 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.31041648 |
| 62 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.30743568 |
| 63 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.30322598 |
| 64 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.30313075 |
| 65 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.27419498 |
| 66 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.27264470 |
| 67 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.26152079 |
| 68 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.25370363 |
| 69 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.23983659 |
| 70 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.23820631 |
| 71 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.22590636 |
| 72 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.21503332 |
| 73 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.16481209 |
| 74 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.15944360 |
| 75 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.14188980 |
| 76 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.12814120 |
| 77 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.11715842 |
| 78 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.10085420 |
| 79 | NFYB_21822215_ChIP-Seq_K562_Human | 1.09823077 |
| 80 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.07513422 |
| 81 | TBL1_22424771_ChIP-Seq_293T_Human | 1.07184034 |
| 82 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.06937467 |
| 83 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.05147472 |
| 84 | * SA1_27219007_Chip-Seq_Bcells_Human | 1.04791420 |
| 85 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.04744301 |
| 86 | CSB_26484114_Chip-Seq_FIBROBLAST_Human | 1.03412543 |
| 87 | P300_19829295_ChIP-Seq_ESCs_Human | 1.03304017 |
| 88 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.03274980 |
| 89 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.01544923 |
| 90 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.01436952 |
| 91 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.00975715 |
| 92 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.00062286 |
| 93 | OCT4_19829295_ChIP-Seq_ESCs_Human | 0.99595585 |
| 94 | KLF5_25053715_ChIP-Seq_YYC3_Human | 0.98881537 |
| 95 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 0.98365293 |
| 96 | KLF4_19829295_ChIP-Seq_ESCs_Human | 0.97736014 |
| 97 | FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 0.97264958 |
| 98 | GF1_26923725_Chip-Seq_HPCs_Mouse | 0.97217230 |
| 99 | SOX11_22085726_ChIP-Seq_ESNs_Mouse | 0.97195209 |
| 100 | RUNX1_27514584_Chip-Seq_MCF-7_Human | 0.97193965 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005670_abnormal_white_adipose | 5.39588980 |
| 2 | MP0003878_abnormal_ear_physiology | 4.87911900 |
| 3 | MP0005377_hearing/vestibular/ear_phenot | 4.87911900 |
| 4 | MP0003698_abnormal_male_reproductive | 4.69079029 |
| 5 | MP0001929_abnormal_gametogenesis | 4.06661381 |
| 6 | MP0001348_abnormal_lacrimal_gland | 2.90340428 |
| 7 | MP0002161_abnormal_fertility/fecundity | 2.70533355 |
| 8 | MP0000678_abnormal_parathyroid_gland | 2.56659553 |
| 9 | MP0003718_maternal_effect | 2.16267731 |
| 10 | MP0003646_muscle_fatigue | 2.09422404 |
| 11 | MP0005410_abnormal_fertilization | 13.0122144 |
| 12 | MP0002210_abnormal_sex_determination | 1.83291500 |
| 13 | MP0002132_abnormal_respiratory_system | 1.75987381 |
| 14 | MP0002234_abnormal_pharynx_morphology | 1.75550276 |
| 15 | MP0003011_delayed_dark_adaptation | 1.67724978 |
| 16 | MP0005423_abnormal_somatic_nervous | 1.67245537 |
| 17 | MP0002249_abnormal_larynx_morphology | 1.63742107 |
| 18 | MP0001145_abnormal_male_reproductive | 1.52491580 |
| 19 | MP0000653_abnormal_sex_gland | 1.44785823 |
| 20 | MP0002822_catalepsy | 1.43652710 |
| 21 | MP0001485_abnormal_pinna_reflex | 1.40752650 |
| 22 | MP0005310_abnormal_salivary_gland | 1.40091303 |
| 23 | MP0000534_abnormal_ureter_morphology | 1.33913271 |
| 24 | MP0009053_abnormal_anal_canal | 1.33357207 |
| 25 | MP0002282_abnormal_trachea_morphology | 1.28345820 |
| 26 | MP0005379_endocrine/exocrine_gland_phen | 1.23066340 |
| 27 | MP0004859_abnormal_synaptic_plasticity | 1.19466456 |
| 28 | MP0001486_abnormal_startle_reflex | 1.15282491 |
| 29 | MP0002127_abnormal_cardiovascular_syste | 1.15256204 |
| 30 | MP0003879_abnormal_hair_cell | 1.13156690 |
| 31 | MP0001765_abnormal_ion_homeostasis | 1.08563665 |
| 32 | MP0002138_abnormal_hepatobiliary_system | 1.06339176 |
| 33 | MP0002735_abnormal_chemical_nociception | 1.06015670 |
| 34 | MP0005451_abnormal_body_composition | 1.05345977 |
| 35 | MP0005666_abnormal_adipose_tissue | 1.01184551 |
| 36 | MP0005395_other_phenotype | 0.99815044 |
| 37 | MP0004742_abnormal_vestibular_system | 0.98942715 |
| 38 | MP0009115_abnormal_fat_cell | 0.98634376 |
| 39 | MP0001963_abnormal_hearing_physiology | 0.97558820 |
| 40 | MP0000955_abnormal_spinal_cord | 0.90312577 |
| 41 | MP0000681_abnormal_thyroid_gland | 0.89907827 |
| 42 | MP0005248_abnormal_Harderian_gland | 0.88536232 |
| 43 | MP0001968_abnormal_touch/_nociception | 0.87822562 |
| 44 | MP0002229_neurodegeneration | 0.87297555 |
| 45 | MP0000026_abnormal_inner_ear | 0.86445157 |
| 46 | MP0008569_lethality_at_weaning | 0.85650552 |
| 47 | MP0004510_myositis | 0.85041449 |
| 48 | MP0005375_adipose_tissue_phenotype | 0.80946603 |
| 49 | MP0005083_abnormal_biliary_tract | 0.77758344 |
| 50 | MP0000049_abnormal_middle_ear | 0.75347132 |
| 51 | MP0001879_abnormal_lymphatic_vessel | 0.73886677 |
| 52 | MP0002557_abnormal_social/conspecific_i | 0.71017825 |
| 53 | MP0002067_abnormal_sensory_capabilities | 0.70141930 |
| 54 | MP0008877_abnormal_DNA_methylation | 0.68329406 |
| 55 | MP0005551_abnormal_eye_electrophysiolog | 0.68051891 |
| 56 | MP0001905_abnormal_dopamine_level | 0.65888790 |
| 57 | MP0000613_abnormal_salivary_gland | 0.64840506 |
| 58 | MP0001666_abnormal_nutrient_absorption | 0.61102722 |
| 59 | MP0004085_abnormal_heartbeat | 0.60384604 |
| 60 | MP0000003_abnormal_adipose_tissue | 0.59305072 |
| 61 | MP0005636_abnormal_mineral_homeostasis | 0.58341524 |
| 62 | MP0004484_altered_response_of | 0.57261779 |
| 63 | MP0003699_abnormal_female_reproductive | 0.56162894 |
| 64 | MP0003077_abnormal_cell_cycle | 0.54494694 |
| 65 | MP0005367_renal/urinary_system_phenotyp | 0.54096521 |
| 66 | MP0000516_abnormal_urinary_system | 0.54096521 |
| 67 | MP0005647_abnormal_sex_gland | 0.53352400 |
| 68 | MP0005253_abnormal_eye_physiology | 0.52615610 |
| 69 | MP0000249_abnormal_blood_vessel | 0.48977081 |
| 70 | MP0002272_abnormal_nervous_system | 0.48641363 |
| 71 | MP0002733_abnormal_thermal_nociception | 0.47221507 |
| 72 | MP0010329_abnormal_lipoprotein_level | 0.45745029 |
| 73 | MP0001270_distended_abdomen | 0.45694404 |
| 74 | MP0008961_abnormal_basal_metabolism | 0.43891035 |
| 75 | MP0003137_abnormal_impulse_conducting | 0.43871032 |
| 76 | MP0003091_abnormal_cell_migration | 0.43615912 |
| 77 | MP0002572_abnormal_emotion/affect_behav | 0.42035270 |
| 78 | MP0004233_abnormal_muscle_weight | 0.41500741 |
| 79 | MP0001440_abnormal_grooming_behavior | 0.41300271 |
| 80 | MP0001873_stomach_inflammation | 0.40553118 |
| 81 | MP0009745_abnormal_behavioral_response | 0.40267855 |
| 82 | MP0002734_abnormal_mechanical_nocicepti | 0.39569013 |
| 83 | MP0004036_abnormal_muscle_relaxation | 0.39411309 |
| 84 | MP0005167_abnormal_blood-brain_barrier | 0.38996671 |
| 85 | MP0001501_abnormal_sleep_pattern | 0.38492574 |
| 86 | MP0009697_abnormal_copulation | 0.38314681 |
| 87 | MP0003631_nervous_system_phenotype | 0.38171014 |
| 88 | MP0000470_abnormal_stomach_morphology | 0.37895604 |
| 89 | MP0002928_abnormal_bile_duct | 0.37881410 |
| 90 | MP0000566_synostosis | 0.37092546 |
| 91 | MP0005084_abnormal_gallbladder_morpholo | 0.36535707 |
| 92 | MP0003936_abnormal_reproductive_system | 0.35908108 |
| 93 | MP0000467_abnormal_esophagus_morphology | 0.35517923 |
| 94 | MP0005535_abnormal_body_temperature | 0.34927730 |
| 95 | MP0003119_abnormal_digestive_system | 0.34915082 |
| 96 | MP0003959_abnormal_lean_body | 0.32815994 |
| 97 | MP0005623_abnormal_meninges_morphology | 0.32506056 |
| 98 | MP0005166_decreased_susceptibility_to | 0.32502599 |
| 99 | MP0003632_abnormal_nervous_system | 0.32254452 |
| 100 | MP0001970_abnormal_pain_threshold | 0.31518246 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 8.06477545 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.86950137 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 5.86950137 |
| 4 | Tubulointerstitial nephritis (HP:0001970) | 5.55246109 |
| 5 | Hyperkalemia (HP:0002153) | 5.18887011 |
| 6 | Chronic hepatic failure (HP:0100626) | 5.06560849 |
| 7 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.84952998 |
| 8 | Asymmetric septal hypertrophy (HP:0001670) | 4.83018174 |
| 9 | Resting tremor (HP:0002322) | 4.77587625 |
| 10 | Attenuation of retinal blood vessels (HP:0007843) | 4.75819296 |
| 11 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.60306501 |
| 12 | Abnormal ciliary motility (HP:0012262) | 4.48317999 |
| 13 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.46072634 |
| 14 | Infertility (HP:0000789) | 4.35582579 |
| 15 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.33049595 |
| 16 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.33049595 |
| 17 | Nasal polyposis (HP:0100582) | 4.28634862 |
| 18 | Abnormality of macular pigmentation (HP:0008002) | 4.23684082 |
| 19 | Male infertility (HP:0003251) | 4.13753254 |
| 20 | Facial shape deformation (HP:0011334) | 4.10332249 |
| 21 | Potter facies (HP:0002009) | 4.10332249 |
| 22 | Bell-shaped thorax (HP:0001591) | 4.00121663 |
| 23 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.95606478 |
| 24 | Cone-rod dystrophy (HP:0000548) | 3.89235047 |
| 25 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.80942634 |
| 26 | Hypoalphalipoproteinemia (HP:0003233) | 3.55604193 |
| 27 | Hypoplasia of the thymus (HP:0000778) | 3.51616836 |
| 28 | Abnormality of the nasal mucosa (HP:0000433) | 3.48765526 |
| 29 | Impulsivity (HP:0100710) | 3.41041482 |
| 30 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.39682866 |
| 31 | Azoospermia (HP:0000027) | 3.38838387 |
| 32 | Progressive sensorineural hearing impairment (HP:0000408) | 3.36041708 |
| 33 | Abnormal spermatogenesis (HP:0008669) | 3.32368086 |
| 34 | Unilateral renal agenesis (HP:0000122) | 3.23405845 |
| 35 | Postural instability (HP:0002172) | 3.20169509 |
| 36 | Hypoplastic ischia (HP:0003175) | 3.12867698 |
| 37 | Double outlet right ventricle (HP:0001719) | 3.11079310 |
| 38 | Congenital malformation of the right heart (HP:0011723) | 3.11079310 |
| 39 | Abnormality of the aortic arch (HP:0012303) | 3.03528041 |
| 40 | Menstrual irregularities (HP:0000858) | 3.03031384 |
| 41 | Enlarged epiphyses (HP:0010580) | 3.01458328 |
| 42 | Truncal obesity (HP:0001956) | 2.96366996 |
| 43 | Renovascular hypertension (HP:0100817) | 2.95277746 |
| 44 | Abnormal urine output (HP:0012590) | 2.91147375 |
| 45 | Renal dysplasia (HP:0000110) | 2.84927050 |
| 46 | Abnormality of potassium homeostasis (HP:0011042) | 2.83140103 |
| 47 | Abnormality of the ischium (HP:0003174) | 2.81489400 |
| 48 | Rhinitis (HP:0012384) | 2.75907553 |
| 49 | Amelogenesis imperfecta (HP:0000705) | 2.75016122 |
| 50 | Generalized aminoaciduria (HP:0002909) | 2.72061714 |
| 51 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.71256620 |
| 52 | Progressive cerebellar ataxia (HP:0002073) | 2.60172308 |
| 53 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.60091709 |
| 54 | Tetany (HP:0001281) | 2.58847015 |
| 55 | Abnormality of the parathyroid morphology (HP:0011766) | 2.53618358 |
| 56 | Polydipsia (HP:0001959) | 2.51913674 |
| 57 | Abnormal drinking behavior (HP:0030082) | 2.51913674 |
| 58 | Portal hypertension (HP:0001409) | 2.51164582 |
| 59 | Abnormality of renal excretion (HP:0011036) | 2.50854560 |
| 60 | Tubulointerstitial abnormality (HP:0001969) | 2.47285474 |
| 61 | Nephronophthisis (HP:0000090) | 2.46050634 |
| 62 | Stage 5 chronic kidney disease (HP:0003774) | 2.42140683 |
| 63 | Hyperuricemia (HP:0002149) | 2.39905558 |
| 64 | Increased purine levels (HP:0004368) | 2.39905558 |
| 65 | Abnormality of the costochondral junction (HP:0000919) | 2.39617096 |
| 66 | Polyuria (HP:0000103) | 2.30855389 |
| 67 | Abnormality of the hepatic vasculature (HP:0006707) | 2.29455051 |
| 68 | Flattened epiphyses (HP:0003071) | 2.27458877 |
| 69 | Abnormality of dental color (HP:0011073) | 2.27036775 |
| 70 | Ventricular tachycardia (HP:0004756) | 2.26531970 |
| 71 | Myokymia (HP:0002411) | 2.23917759 |
| 72 | Progressive hearing impairment (HP:0001730) | 2.11705330 |
| 73 | Abnormality of the renal medulla (HP:0100957) | 2.07500936 |
| 74 | Osteomalacia (HP:0002749) | 2.05550825 |
| 75 | Hyponatremia (HP:0002902) | 2.00623923 |
| 76 | Abnormal connection of the cardiac segments (HP:0011545) | 2.00308156 |
| 77 | Abnormal ventriculo-arterial connection (HP:0011563) | 2.00308156 |
| 78 | Transposition of the great arteries (HP:0001669) | 2.00308156 |
| 79 | Bronchiectasis (HP:0002110) | 2.00249287 |
| 80 | Chronic bronchitis (HP:0004469) | 1.98600266 |
| 81 | Recurrent pneumonia (HP:0006532) | 1.97289402 |
| 82 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 1.95406381 |
| 83 | Widely patent fontanelles and sutures (HP:0004492) | 1.94826436 |
| 84 | Hyperthyroidism (HP:0000836) | 1.94558662 |
| 85 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.89076718 |
| 86 | Epiphyseal dysplasia (HP:0002656) | 1.88865605 |
| 87 | Subcapsular cataract (HP:0000523) | 1.88335085 |
| 88 | Hypophosphatemic rickets (HP:0004912) | 1.87864472 |
| 89 | Renal Fanconi syndrome (HP:0001994) | 1.84933794 |
| 90 | Bradycardia (HP:0001662) | 1.84119675 |
| 91 | Abnormality of chloride homeostasis (HP:0011422) | 1.84101472 |
| 92 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.83342642 |
| 93 | Absent epiphyses (HP:0010577) | 1.83342642 |
| 94 | Amblyopia (HP:0000646) | 1.80797298 |
| 95 | Optic nerve hypoplasia (HP:0000609) | 1.80636327 |
| 96 | Hypoparathyroidism (HP:0000829) | 1.80613121 |
| 97 | Neoplasm of the heart (HP:0100544) | 1.77521641 |
| 98 | Recurrent corneal erosions (HP:0000495) | 1.77455972 |
| 99 | Abnormality of femoral epiphyses (HP:0006499) | 1.74970875 |
| 100 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 1.74970875 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 7.59531696 |
| 2 | TESK1 | 6.86770977 |
| 3 | DDR2 | 4.25378011 |
| 4 | STK38 | 4.21963466 |
| 5 | PNCK | 3.50212300 |
| 6 | PRKD3 | 3.01381365 |
| 7 | MAP4K2 | 2.94534881 |
| 8 | MAPK15 | 2.92194472 |
| 9 | BRD4 | 2.90697575 |
| 10 | STK38L | 2.76155151 |
| 11 | PLK2 | 2.68910364 |
| 12 | CAMK1G | 2.65413668 |
| 13 | INSRR | 2.51818494 |
| 14 | MST1R | 1.91097668 |
| 15 | PDPK1 | 1.83578836 |
| 16 | DYRK1B | 1.69950939 |
| 17 | PDK1 | 1.66483526 |
| 18 | NEK6 | 1.54114677 |
| 19 | CDK12 | 1.46235439 |
| 20 | WNK1 | 1.45719019 |
| 21 | PIK3CG | 1.27454087 |
| 22 | CDK7 | 1.26356577 |
| 23 | AKT3 | 1.26010750 |
| 24 | WNK4 | 1.12047819 |
| 25 | KSR2 | 1.11765223 |
| 26 | PTK2B | 1.01107694 |
| 27 | MAP3K9 | 0.99781269 |
| 28 | SIK2 | 0.95562196 |
| 29 | CAMK1D | 0.92362484 |
| 30 | STK39 | 0.88830065 |
| 31 | BRAF | 0.80246692 |
| 32 | LATS2 | 0.76542101 |
| 33 | MAP3K11 | 0.76302544 |
| 34 | MAP3K2 | 0.75519301 |
| 35 | RIPK4 | 0.74279469 |
| 36 | MAP2K2 | 0.73954692 |
| 37 | UHMK1 | 0.69743937 |
| 38 | RPS6KA1 | 0.69587441 |
| 39 | TYRO3 | 0.69330772 |
| 40 | RPS6KA2 | 0.66021747 |
| 41 | PRKG1 | 0.63414848 |
| 42 | SGK223 | 0.63027713 |
| 43 | SGK494 | 0.63027713 |
| 44 | MAP3K8 | 0.61086949 |
| 45 | CAMK1 | 0.60829474 |
| 46 | PRKG2 | 0.59635248 |
| 47 | ROCK1 | 0.59220489 |
| 48 | LATS1 | 0.52895418 |
| 49 | GSK3B | 0.52176205 |
| 50 | PRKAA2 | 0.50497196 |
| 51 | CDK2 | 0.49931019 |
| 52 | MTOR | 0.48415095 |
| 53 | CDK3 | 0.45709812 |
| 54 | CDK4 | 0.45535855 |
| 55 | MAP3K1 | 0.45154556 |
| 56 | MAPK8 | 0.44430030 |
| 57 | CDK1 | 0.44228015 |
| 58 | MAPK1 | 0.43833814 |
| 59 | TESK2 | 0.43734467 |
| 60 | BMPR1B | 0.42229748 |
| 61 | SGK1 | 0.38647720 |
| 62 | CAMK4 | 0.35992422 |
| 63 | PRKCZ | 0.35075170 |
| 64 | RPS6KL1 | 0.34387285 |
| 65 | RPS6KC1 | 0.34387285 |
| 66 | MET | 0.31380167 |
| 67 | RPS6KA6 | 0.31373887 |
| 68 | CHEK1 | 0.30184172 |
| 69 | MARK1 | 0.29135578 |
| 70 | MAPK14 | 0.28066473 |
| 71 | ARAF | 0.27914588 |
| 72 | PRKCG | 0.26588366 |
| 73 | MAPK10 | 0.25785906 |
| 74 | PRKCB | 0.23473127 |
| 75 | MINK1 | 0.23453096 |
| 76 | PINK1 | 0.22744566 |
| 77 | NTRK3 | 0.21815095 |
| 78 | MUSK | 0.19030861 |
| 79 | NEK2 | 0.19015641 |
| 80 | FER | 0.18384196 |
| 81 | MARK2 | 0.18162674 |
| 82 | AKT1 | 0.16922637 |
| 83 | ACVR1B | 0.15000206 |
| 84 | BRSK1 | 0.14661991 |
| 85 | OXSR1 | 0.14513844 |
| 86 | TIE1 | 0.14184566 |
| 87 | PKN1 | 0.13825639 |
| 88 | SGK2 | 0.13490540 |
| 89 | MAPK11 | 0.13066789 |
| 90 | TLK1 | 0.10733345 |
| 91 | PRKAA1 | 0.10029259 |
| 92 | PRKACB | 0.09077533 |
| 93 | TNIK | 0.08416111 |
| 94 | MAP3K4 | 0.08274949 |
| 95 | PRKACA | 0.07019114 |
| 96 | MAPK9 | 0.06889161 |
| 97 | SGK3 | 0.06726545 |
| 98 | ZAK | 0.06204866 |
| 99 | RIPK1 | 0.06181939 |
| 100 | VRK1 | 0.06086993 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 7.88580689 |
| 2 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 7.76559645 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 2.96667167 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.55942586 |
| 5 | Fatty acid degradation_Homo sapiens_hsa00071 | 2.20141967 |
| 6 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.15079995 |
| 7 | Fatty acid metabolism_Homo sapiens_hsa01212 | 2.02057142 |
| 8 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.82302963 |
| 9 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.78054448 |
| 10 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.76035233 |
| 11 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.72149858 |
| 12 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.54211950 |
| 13 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.48934343 |
| 14 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.47580507 |
| 15 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.47276628 |
| 16 | Taste transduction_Homo sapiens_hsa04742 | 1.41190623 |
| 17 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.38646820 |
| 18 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.33744596 |
| 19 | RNA transport_Homo sapiens_hsa03013 | 1.31456031 |
| 20 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.30482163 |
| 21 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.18970939 |
| 22 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.16454527 |
| 23 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.11075071 |
| 24 | Endocytosis_Homo sapiens_hsa04144 | 1.10322573 |
| 25 | Allograft rejection_Homo sapiens_hsa05330 | 1.03651260 |
| 26 | Phototransduction_Homo sapiens_hsa04744 | 1.03158597 |
| 27 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.01925622 |
| 28 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.01307522 |
| 29 | Salivary secretion_Homo sapiens_hsa04970 | 0.96138452 |
| 30 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.91922874 |
| 31 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.89188080 |
| 32 | Morphine addiction_Homo sapiens_hsa05032 | 0.88873109 |
| 33 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.85288482 |
| 34 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.83685120 |
| 35 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.83611668 |
| 36 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.83583374 |
| 37 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.77896547 |
| 38 | Viral myocarditis_Homo sapiens_hsa05416 | 0.77866879 |
| 39 | Circadian entrainment_Homo sapiens_hsa04713 | 0.77688431 |
| 40 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.77055608 |
| 41 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.76261971 |
| 42 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.75335935 |
| 43 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.74607771 |
| 44 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.69727385 |
| 45 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.68437036 |
| 46 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.68020066 |
| 47 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.67632107 |
| 48 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.65390687 |
| 49 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.64885549 |
| 50 | Tight junction_Homo sapiens_hsa04530 | 0.64763203 |
| 51 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.62923091 |
| 52 | Influenza A_Homo sapiens_hsa05164 | 0.60352449 |
| 53 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.59913030 |
| 54 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.59851249 |
| 55 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.59682705 |
| 56 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.59465099 |
| 57 | ABC transporters_Homo sapiens_hsa02010 | 0.58423406 |
| 58 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.53931445 |
| 59 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.52629637 |
| 60 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.51159183 |
| 61 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.50952500 |
| 62 | Nicotine addiction_Homo sapiens_hsa05033 | 0.48729224 |
| 63 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.48604508 |
| 64 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.48518203 |
| 65 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.48073494 |
| 66 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.46159388 |
| 67 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.44398364 |
| 68 | Purine metabolism_Homo sapiens_hsa00230 | 0.44376534 |
| 69 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.42734018 |
| 70 | Renin secretion_Homo sapiens_hsa04924 | 0.41937564 |
| 71 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.41172414 |
| 72 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.40579205 |
| 73 | Retinol metabolism_Homo sapiens_hsa00830 | 0.37735235 |
| 74 | Bile secretion_Homo sapiens_hsa04976 | 0.37466579 |
| 75 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.37110620 |
| 76 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.36262313 |
| 77 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.34864525 |
| 78 | Insulin secretion_Homo sapiens_hsa04911 | 0.34499000 |
| 79 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.33135575 |
| 80 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.31277622 |
| 81 | Alcoholism_Homo sapiens_hsa05034 | 0.30955003 |
| 82 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.28341804 |
| 83 | Basal transcription factors_Homo sapiens_hsa03022 | 0.26712693 |
| 84 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.26545231 |
| 85 | GABAergic synapse_Homo sapiens_hsa04727 | 0.24636202 |
| 86 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.23340792 |
| 87 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.23259276 |
| 88 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.23141550 |
| 89 | Long-term potentiation_Homo sapiens_hsa04720 | 0.22911070 |
| 90 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.20127761 |
| 91 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.19491278 |
| 92 | Adherens junction_Homo sapiens_hsa04520 | 0.19160214 |
| 93 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.17895615 |
| 94 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.17276228 |
| 95 | Carbon metabolism_Homo sapiens_hsa01200 | 0.17270020 |
| 96 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.16615768 |
| 97 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 0.15861039 |
| 98 | Legionellosis_Homo sapiens_hsa05134 | 0.15553991 |
| 99 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.14943156 |
| 100 | Metabolic pathways_Homo sapiens_hsa01100 | 0.13948757 |

