

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | chromosome condensation (GO:0030261) | 9.80122293 |
| 2 | DNA packaging (GO:0006323) | 9.37677234 |
| 3 | sperm capacitation (GO:0048240) | 9.13813097 |
| 4 | response to pheromone (GO:0019236) | 9.06324439 |
| 5 | single strand break repair (GO:0000012) | 8.97762927 |
| 6 | spermatid nucleus differentiation (GO:0007289) | 8.95050659 |
| 7 | spermatid development (GO:0007286) | 8.79605675 |
| 8 | plasma membrane fusion (GO:0045026) | 8.03991764 |
| 9 | sperm-egg recognition (GO:0035036) | 7.93666292 |
| 10 | binding of sperm to zona pellucida (GO:0007339) | 7.87132791 |
| 11 | microtubule depolymerization (GO:0007019) | 7.52279283 |
| 12 | multicellular organism reproduction (GO:0032504) | 7.36208055 |
| 13 | sexual reproduction (GO:0019953) | 7.35233205 |
| 14 | negative regulation of inclusion body assembly (GO:0090084) | 7.13858884 |
| 15 | reproduction (GO:0000003) | 7.10199647 |
| 16 | rRNA methylation (GO:0031167) | 6.94160744 |
| 17 | calcium ion-dependent exocytosis (GO:0017156) | 6.61075327 |
| 18 | axonemal dynein complex assembly (GO:0070286) | 6.56853916 |
| 19 | cell-cell recognition (GO:0009988) | 6.53643849 |
| 20 | protein polyglutamylation (GO:0018095) | 6.41665230 |
| 21 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.22275103 |
| 22 | spermatogenesis (GO:0007283) | 6.14213585 |
| 23 | male gamete generation (GO:0048232) | 6.12033033 |
| 24 | microtubule polymerization or depolymerization (GO:0031109) | 6.09465286 |
| 25 | protein targeting to Golgi (GO:0000042) | 6.04606700 |
| 26 | microtubule severing (GO:0051013) | 5.97815188 |
| 27 | rRNA modification (GO:0000154) | 5.90405437 |
| 28 | establishment of protein localization to Golgi (GO:0072600) | 5.77086941 |
| 29 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.72568422 |
| 30 | gamete generation (GO:0007276) | 5.61112131 |
| 31 | motile cilium assembly (GO:0044458) | 5.58637758 |
| 32 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.58440670 |
| 33 | cellular ketone body metabolic process (GO:0046950) | 5.50044280 |
| 34 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 5.30361532 |
| 35 | germ cell development (GO:0007281) | 5.29959113 |
| 36 | single fertilization (GO:0007338) | 5.12963599 |
| 37 | chromatin silencing (GO:0006342) | 5.07415873 |
| 38 | regulation of inclusion body assembly (GO:0090083) | 5.07097080 |
| 39 | centriole replication (GO:0007099) | 4.92318607 |
| 40 | regulation of cilium movement (GO:0003352) | 4.90856048 |
| 41 | regulation of Rab GTPase activity (GO:0032313) | 4.88473629 |
| 42 | positive regulation of Rab GTPase activity (GO:0032851) | 4.88473629 |
| 43 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.88388746 |
| 44 | ketone body metabolic process (GO:1902224) | 4.86401781 |
| 45 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.83976051 |
| 46 | centriole assembly (GO:0098534) | 4.51495843 |
| 47 | multicellular organismal reproductive process (GO:0048609) | 4.50867915 |
| 48 | nucleosome disassembly (GO:0006337) | 4.49592201 |
| 49 | protein-DNA complex disassembly (GO:0032986) | 4.49592201 |
| 50 | protein localization to Golgi apparatus (GO:0034067) | 4.40050014 |
| 51 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.32120438 |
| 52 | coenzyme catabolic process (GO:0009109) | 4.29641277 |
| 53 | epithelial cilium movement (GO:0003351) | 4.25085491 |
| 54 | nucleus organization (GO:0006997) | 4.22891132 |
| 55 | fertilization (GO:0009566) | 4.18638753 |
| 56 | RNA destabilization (GO:0050779) | 4.13660944 |
| 57 | regulation of centriole replication (GO:0046599) | 4.09766829 |
| 58 | cell wall macromolecule catabolic process (GO:0016998) | 4.06659881 |
| 59 | cell wall macromolecule metabolic process (GO:0044036) | 4.01485696 |
| 60 | organic cation transport (GO:0015695) | 3.90714035 |
| 61 | polyamine biosynthetic process (GO:0006596) | 3.88677663 |
| 62 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 3.83054661 |
| 63 | histone H3-K9 demethylation (GO:0033169) | 3.74549539 |
| 64 | male meiosis (GO:0007140) | 3.72537156 |
| 65 | cilium movement (GO:0003341) | 3.71178583 |
| 66 | response to acidic pH (GO:0010447) | 3.68845391 |
| 67 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.68281441 |
| 68 | regulation of meiosis I (GO:0060631) | 3.67459210 |
| 69 | seminiferous tubule development (GO:0072520) | 3.60587744 |
| 70 | glycerol ether metabolic process (GO:0006662) | 3.58572233 |
| 71 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.48471945 |
| 72 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.31285263 |
| 73 | histone exchange (GO:0043486) | 3.30377720 |
| 74 | ether metabolic process (GO:0018904) | 3.30127978 |
| 75 | regulation of microtubule-based movement (GO:0060632) | 3.27782996 |
| 76 | cellular response to pH (GO:0071467) | 3.26910100 |
| 77 | piRNA metabolic process (GO:0034587) | 3.22124839 |
| 78 | multicellular organismal movement (GO:0050879) | 3.21581861 |
| 79 | musculoskeletal movement (GO:0050881) | 3.21581861 |
| 80 | cranial nerve morphogenesis (GO:0021602) | 3.14051016 |
| 81 | cell recognition (GO:0008037) | 3.13656185 |
| 82 | regulation of interleukin-13 production (GO:0032656) | 3.11501457 |
| 83 | DNA conformation change (GO:0071103) | 3.09449197 |
| 84 | cerebral cortex neuron differentiation (GO:0021895) | 3.08559097 |
| 85 | multicellular organismal development (GO:0007275) | 3.06383025 |
| 86 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.05339405 |
| 87 | male sex determination (GO:0030238) | 3.00810091 |
| 88 | male meiosis I (GO:0007141) | 2.94463635 |
| 89 | regulation of T-helper 2 cell differentiation (GO:0045628) | 2.90839678 |
| 90 | protein depolymerization (GO:0051261) | 2.88979787 |
| 91 | homeostasis of number of cells within a tissue (GO:0048873) | 2.87347533 |
| 92 | microtubule nucleation (GO:0007020) | 2.86663924 |
| 93 | regulation of ARF GTPase activity (GO:0032312) | 2.84883662 |
| 94 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 2.83085281 |
| 95 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 2.83085281 |
| 96 | receptor recycling (GO:0001881) | 2.81927392 |
| 97 | glomerular visceral epithelial cell development (GO:0072015) | 2.79498340 |
| 98 | acrosome reaction (GO:0007340) | 12.7887551 |
| 99 | sperm motility (GO:0030317) | 12.0218612 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.5733667 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.52609116 |
| 2 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.58823595 |
| 3 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.21101867 |
| 4 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.54785100 |
| 5 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.54785100 |
| 6 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.48434873 |
| 7 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.35912477 |
| 8 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.26077829 |
| 9 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.26077829 |
| 10 | ERA_21632823_ChIP-Seq_H3396_Human | 2.20106458 |
| 11 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.17482779 |
| 12 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.10013556 |
| 13 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 2.03993843 |
| 14 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 2.02546453 |
| 15 | FUS_26573619_Chip-Seq_HEK293_Human | 2.02459414 |
| 16 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 2.01334746 |
| 17 | RAC3_21632823_ChIP-Seq_H3396_Human | 2.00957972 |
| 18 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.97925755 |
| 19 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.92952802 |
| 20 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.90831501 |
| 21 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.90177323 |
| 22 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.89026047 |
| 23 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.88884252 |
| 24 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.78944703 |
| 25 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.76503031 |
| 26 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.74400292 |
| 27 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.70405126 |
| 28 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.67404184 |
| 29 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.66967139 |
| 30 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.66529593 |
| 31 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.66328562 |
| 32 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.65517944 |
| 33 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.62857751 |
| 34 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.62813931 |
| 35 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.61849911 |
| 36 | P68_20966046_ChIP-Seq_HELA_Human | 1.60700205 |
| 37 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.60268049 |
| 38 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.59528390 |
| 39 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.58928967 |
| 40 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.55341210 |
| 41 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.51920569 |
| 42 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.51884122 |
| 43 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.51524455 |
| 44 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.49379979 |
| 45 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.48353386 |
| 46 | P300_27268052_Chip-Seq_Bcells_Human | 1.47612740 |
| 47 | AR_25329375_ChIP-Seq_VCAP_Human | 1.47313150 |
| 48 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.41973319 |
| 49 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.41645932 |
| 50 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.40488088 |
| 51 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.39021740 |
| 52 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.39009179 |
| 53 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.38086307 |
| 54 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.38005515 |
| 55 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.37454971 |
| 56 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.36754514 |
| 57 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.36032658 |
| 58 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.35576158 |
| 59 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.33200297 |
| 60 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.32735957 |
| 61 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.32515609 |
| 62 | P300_19829295_ChIP-Seq_ESCs_Human | 1.31394128 |
| 63 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.30673354 |
| 64 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.28833962 |
| 65 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.28647844 |
| 66 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.28265186 |
| 67 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.27819555 |
| 68 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.27251715 |
| 69 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.25996575 |
| 70 | TBL1_22424771_ChIP-Seq_293T_Human | 1.25705357 |
| 71 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.24118559 |
| 72 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.23191767 |
| 73 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.19855759 |
| 74 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.19500141 |
| 75 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.19229958 |
| 76 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.19080233 |
| 77 | NFYB_21822215_ChIP-Seq_K562_Human | 1.17886881 |
| 78 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.17535162 |
| 79 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.16946669 |
| 80 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.16903979 |
| 81 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.14871226 |
| 82 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.13032897 |
| 83 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.12005854 |
| 84 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.09484114 |
| 85 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.09321611 |
| 86 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.08716768 |
| 87 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.08290501 |
| 88 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.08052967 |
| 89 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.08010577 |
| 90 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.08010577 |
| 91 | SA1_27219007_Chip-Seq_Bcells_Human | 1.07367341 |
| 92 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.06992311 |
| 93 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.06746753 |
| 94 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.05131302 |
| 95 | OCT4_19829295_ChIP-Seq_ESCs_Human | 1.01684712 |
| 96 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.01336512 |
| 97 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.01239217 |
| 98 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.00150793 |
| 99 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.00118710 |
| 100 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 0.99936403 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 4.76052172 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 4.53598800 |
| 3 | MP0003878_abnormal_ear_physiology | 4.53598800 |
| 4 | MP0001929_abnormal_gametogenesis | 4.18960665 |
| 5 | MP0005670_abnormal_white_adipose | 4.13618460 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.62735521 |
| 7 | MP0000678_abnormal_parathyroid_gland | 2.72204623 |
| 8 | MP0002161_abnormal_fertility/fecundity | 2.61384271 |
| 9 | MP0002132_abnormal_respiratory_system | 2.27680516 |
| 10 | MP0003718_maternal_effect | 2.22579741 |
| 11 | MP0003011_delayed_dark_adaptation | 2.08000912 |
| 12 | MP0002210_abnormal_sex_determination | 2.02873244 |
| 13 | MP0005410_abnormal_fertilization | 13.0750792 |
| 14 | MP0002249_abnormal_larynx_morphology | 1.78055652 |
| 15 | MP0005379_endocrine/exocrine_gland_phen | 1.77724718 |
| 16 | MP0001145_abnormal_male_reproductive | 1.68528074 |
| 17 | MP0003646_muscle_fatigue | 1.60432581 |
| 18 | MP0000653_abnormal_sex_gland | 1.56724095 |
| 19 | MP0002282_abnormal_trachea_morphology | 1.48516534 |
| 20 | MP0009053_abnormal_anal_canal | 1.40328221 |
| 21 | MP0005423_abnormal_somatic_nervous | 1.38675102 |
| 22 | MP0005248_abnormal_Harderian_gland | 1.37852106 |
| 23 | MP0001485_abnormal_pinna_reflex | 1.33252340 |
| 24 | MP0001486_abnormal_startle_reflex | 1.30524675 |
| 25 | MP0001968_abnormal_touch/_nociception | 1.25316191 |
| 26 | MP0002234_abnormal_pharynx_morphology | 1.22511893 |
| 27 | MP0002127_abnormal_cardiovascular_syste | 1.21220354 |
| 28 | MP0002735_abnormal_chemical_nociception | 1.17184957 |
| 29 | MP0000534_abnormal_ureter_morphology | 1.14298837 |
| 30 | MP0004742_abnormal_vestibular_system | 1.09647059 |
| 31 | MP0002138_abnormal_hepatobiliary_system | 1.07539057 |
| 32 | MP0001963_abnormal_hearing_physiology | 1.04290012 |
| 33 | MP0004510_myositis | 1.03241561 |
| 34 | MP0005395_other_phenotype | 1.01872285 |
| 35 | MP0008877_abnormal_DNA_methylation | 1.01722237 |
| 36 | MP0002822_catalepsy | 0.98570176 |
| 37 | MP0000026_abnormal_inner_ear | 0.96649348 |
| 38 | MP0004859_abnormal_synaptic_plasticity | 0.93862313 |
| 39 | MP0000681_abnormal_thyroid_gland | 0.93574074 |
| 40 | MP0003879_abnormal_hair_cell | 0.93557911 |
| 41 | MP0001765_abnormal_ion_homeostasis | 0.92184277 |
| 42 | MP0005310_abnormal_salivary_gland | 0.88835137 |
| 43 | MP0008004_abnormal_stomach_pH | 0.85406394 |
| 44 | MP0000049_abnormal_middle_ear | 0.84787167 |
| 45 | MP0005367_renal/urinary_system_phenotyp | 0.79259369 |
| 46 | MP0000516_abnormal_urinary_system | 0.79259369 |
| 47 | MP0002229_neurodegeneration | 0.78971608 |
| 48 | MP0003136_yellow_coat_color | 0.76575293 |
| 49 | MP0004085_abnormal_heartbeat | 0.73645147 |
| 50 | MP0005253_abnormal_eye_physiology | 0.71836941 |
| 51 | MP0001879_abnormal_lymphatic_vessel | 0.71493780 |
| 52 | MP0001905_abnormal_dopamine_level | 0.71058498 |
| 53 | MP0003936_abnormal_reproductive_system | 0.69138676 |
| 54 | MP0000955_abnormal_spinal_cord | 0.68701667 |
| 55 | MP0002067_abnormal_sensory_capabilities | 0.67920075 |
| 56 | MP0005551_abnormal_eye_electrophysiolog | 0.67076246 |
| 57 | MP0001984_abnormal_olfaction | 0.65230263 |
| 58 | MP0009115_abnormal_fat_cell | 0.62760826 |
| 59 | MP0005666_abnormal_adipose_tissue | 0.62394361 |
| 60 | MP0008995_early_reproductive_senescence | 0.60669455 |
| 61 | MP0005647_abnormal_sex_gland | 0.59820748 |
| 62 | MP0005451_abnormal_body_composition | 0.59461294 |
| 63 | MP0008569_lethality_at_weaning | 0.58966692 |
| 64 | MP0003315_abnormal_perineum_morphology | 0.57885644 |
| 65 | MP0002160_abnormal_reproductive_system | 0.57440485 |
| 66 | MP0002557_abnormal_social/conspecific_i | 0.57250393 |
| 67 | MP0002733_abnormal_thermal_nociception | 0.56132782 |
| 68 | MP0005167_abnormal_blood-brain_barrier | 0.54016019 |
| 69 | MP0003119_abnormal_digestive_system | 0.53550709 |
| 70 | MP0003077_abnormal_cell_cycle | 0.51702166 |
| 71 | MP0010368_abnormal_lymphatic_system | 0.50425340 |
| 72 | MP0005375_adipose_tissue_phenotype | 0.50005386 |
| 73 | MP0009697_abnormal_copulation | 0.49996409 |
| 74 | MP0010386_abnormal_urinary_bladder | 0.49332217 |
| 75 | MP0005636_abnormal_mineral_homeostasis | 0.47984171 |
| 76 | MP0004233_abnormal_muscle_weight | 0.47118111 |
| 77 | MP0000470_abnormal_stomach_morphology | 0.46262423 |
| 78 | MP0003699_abnormal_female_reproductive | 0.46197848 |
| 79 | MP0002653_abnormal_ependyma_morphology | 0.46182031 |
| 80 | MP0000566_synostosis | 0.44846430 |
| 81 | MP0002572_abnormal_emotion/affect_behav | 0.44449738 |
| 82 | MP0002272_abnormal_nervous_system | 0.43250584 |
| 83 | MP0004036_abnormal_muscle_relaxation | 0.41743539 |
| 84 | MP0005535_abnormal_body_temperature | 0.41357167 |
| 85 | MP0005408_hypopigmentation | 0.41037266 |
| 86 | MP0001501_abnormal_sleep_pattern | 0.40964567 |
| 87 | MP0005083_abnormal_biliary_tract | 0.40023695 |
| 88 | MP0009745_abnormal_behavioral_response | 0.39564675 |
| 89 | MP0003880_abnormal_central_pattern | 0.39311817 |
| 90 | MP0005391_vision/eye_phenotype | 0.38272647 |
| 91 | MP0001970_abnormal_pain_threshold | 0.37113562 |
| 92 | MP0004484_altered_response_of | 0.36901932 |
| 93 | MP0001666_abnormal_nutrient_absorption | 0.35869289 |
| 94 | MP0005499_abnormal_olfactory_system | 0.35699927 |
| 95 | MP0005394_taste/olfaction_phenotype | 0.35699927 |
| 96 | MP0002734_abnormal_mechanical_nocicepti | 0.35392273 |
| 97 | MP0003631_nervous_system_phenotype | 0.35336539 |
| 98 | MP0000467_abnormal_esophagus_morphology | 0.34951376 |
| 99 | MP0000003_abnormal_adipose_tissue | 0.33009047 |
| 100 | MP0005623_abnormal_meninges_morphology | 0.31993786 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 8.10211682 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 6.36786429 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.36786429 |
| 4 | Resting tremor (HP:0002322) | 5.28309526 |
| 5 | Abnormal ciliary motility (HP:0012262) | 5.12474506 |
| 6 | Abnormal respiratory motile cilium physiology (HP:0012261) | 5.04742845 |
| 7 | Attenuation of retinal blood vessels (HP:0007843) | 4.98613363 |
| 8 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.95620622 |
| 9 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.70967172 |
| 10 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.70967172 |
| 11 | Infertility (HP:0000789) | 4.62493068 |
| 12 | Asymmetric septal hypertrophy (HP:0001670) | 4.60690179 |
| 13 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.36813402 |
| 14 | Tubulointerstitial nephritis (HP:0001970) | 4.33644708 |
| 15 | Nasal polyposis (HP:0100582) | 4.32061857 |
| 16 | Abnormality of macular pigmentation (HP:0008002) | 4.15489138 |
| 17 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.10253581 |
| 18 | Bell-shaped thorax (HP:0001591) | 4.09720515 |
| 19 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.99888670 |
| 20 | Chronic hepatic failure (HP:0100626) | 3.84137047 |
| 21 | Male infertility (HP:0003251) | 3.78678531 |
| 22 | Hyperkalemia (HP:0002153) | 3.75949928 |
| 23 | Hypoplastic ischia (HP:0003175) | 3.71060889 |
| 24 | Potter facies (HP:0002009) | 3.59469366 |
| 25 | Facial shape deformation (HP:0011334) | 3.59469366 |
| 26 | Enlarged epiphyses (HP:0010580) | 3.58601725 |
| 27 | Abnormality of the nasal mucosa (HP:0000433) | 3.50192260 |
| 28 | Azoospermia (HP:0000027) | 3.44763475 |
| 29 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.37550717 |
| 30 | Abnormality of the ischium (HP:0003174) | 3.30756144 |
| 31 | Abnormal spermatogenesis (HP:0008669) | 3.26495394 |
| 32 | Impulsivity (HP:0100710) | 3.24281544 |
| 33 | Postural instability (HP:0002172) | 3.22779090 |
| 34 | Cone-rod dystrophy (HP:0000548) | 3.06991007 |
| 35 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.94962393 |
| 36 | Rhinitis (HP:0012384) | 2.82912051 |
| 37 | Unilateral renal agenesis (HP:0000122) | 2.82605694 |
| 38 | Sensory axonal neuropathy (HP:0003390) | 2.80693332 |
| 39 | Renal dysplasia (HP:0000110) | 2.76982529 |
| 40 | Progressive sensorineural hearing impairment (HP:0000408) | 2.75690263 |
| 41 | Abnormal urine output (HP:0012590) | 2.71370313 |
| 42 | Osteomalacia (HP:0002749) | 2.71098946 |
| 43 | Hypoplasia of the thymus (HP:0000778) | 2.57826943 |
| 44 | Congenital malformation of the right heart (HP:0011723) | 2.54860272 |
| 45 | Double outlet right ventricle (HP:0001719) | 2.54860272 |
| 46 | Abnormality of the aortic arch (HP:0012303) | 2.54187999 |
| 47 | Nephronophthisis (HP:0000090) | 2.49124520 |
| 48 | Stage 5 chronic kidney disease (HP:0003774) | 2.48461550 |
| 49 | Abnormality of dental color (HP:0011073) | 2.42660316 |
| 50 | Abnormality of renal excretion (HP:0011036) | 2.37812330 |
| 51 | Generalized aminoaciduria (HP:0002909) | 2.37811410 |
| 52 | Abnormal drinking behavior (HP:0030082) | 2.36567098 |
| 53 | Polydipsia (HP:0001959) | 2.36567098 |
| 54 | Abnormality of the costochondral junction (HP:0000919) | 2.30414995 |
| 55 | Hypoalphalipoproteinemia (HP:0003233) | 2.27987794 |
| 56 | Progressive cerebellar ataxia (HP:0002073) | 2.27077450 |
| 57 | Truncal obesity (HP:0001956) | 2.24794807 |
| 58 | Abnormality of potassium homeostasis (HP:0011042) | 2.23416871 |
| 59 | Bronchiectasis (HP:0002110) | 2.22031133 |
| 60 | Amelogenesis imperfecta (HP:0000705) | 2.19883001 |
| 61 | Polyuria (HP:0000103) | 2.19717156 |
| 62 | Flattened epiphyses (HP:0003071) | 2.14812037 |
| 63 | Tubulointerstitial abnormality (HP:0001969) | 2.14225198 |
| 64 | Neonatal short-limb short stature (HP:0008921) | 2.07848739 |
| 65 | Optic nerve hypoplasia (HP:0000609) | 2.07835644 |
| 66 | Abnormality of the renal medulla (HP:0100957) | 2.03861071 |
| 67 | Chronic bronchitis (HP:0004469) | 2.02653474 |
| 68 | Absent epiphyses (HP:0010577) | 2.02208407 |
| 69 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 2.02208407 |
| 70 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 2.01002345 |
| 71 | Widely patent fontanelles and sutures (HP:0004492) | 2.00493225 |
| 72 | Cerebellar dysplasia (HP:0007033) | 1.98007049 |
| 73 | Portal hypertension (HP:0001409) | 1.92761381 |
| 74 | Atelectasis (HP:0100750) | 1.91865118 |
| 75 | Hyponatremia (HP:0002902) | 1.89820723 |
| 76 | Epiphyseal dysplasia (HP:0002656) | 1.89603101 |
| 77 | Recurrent corneal erosions (HP:0000495) | 1.89525998 |
| 78 | Ventricular tachycardia (HP:0004756) | 1.87606640 |
| 79 | Type II lissencephaly (HP:0007260) | 1.87261798 |
| 80 | Insulin-resistant diabetes mellitus (HP:0000831) | 1.87070318 |
| 81 | Short ribs (HP:0000773) | 1.86660920 |
| 82 | Abnormality of the pubic bones (HP:0003172) | 1.86606018 |
| 83 | Spastic paraparesis (HP:0002313) | 1.85118541 |
| 84 | Occipital encephalocele (HP:0002085) | 1.84279586 |
| 85 | Hypophosphatemic rickets (HP:0004912) | 1.83438535 |
| 86 | Increased purine levels (HP:0004368) | 1.83008550 |
| 87 | Hyperuricemia (HP:0002149) | 1.83008550 |
| 88 | Abnormality of the parathyroid morphology (HP:0011766) | 1.81960535 |
| 89 | Peripheral hypomyelination (HP:0007182) | 1.80178404 |
| 90 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.80158474 |
| 91 | Congenital sensorineural hearing impairment (HP:0008527) | 1.79820808 |
| 92 | Abnormality of the hepatic vasculature (HP:0006707) | 1.78059906 |
| 93 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.76425637 |
| 94 | Tetany (HP:0001281) | 1.73546173 |
| 95 | Glycosuria (HP:0003076) | 1.72753362 |
| 96 | Abnormality of urine glucose concentration (HP:0011016) | 1.72753362 |
| 97 | Hyperthyroidism (HP:0000836) | 1.72495633 |
| 98 | Renovascular hypertension (HP:0100817) | 1.71874025 |
| 99 | Retinal dysplasia (HP:0007973) | 1.71861411 |
| 100 | Amblyopia (HP:0000646) | 1.71476894 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 8.08340632 |
| 2 | TESK1 | 5.82862669 |
| 3 | DDR2 | 4.63244640 |
| 4 | PNCK | 4.23140119 |
| 5 | STK38 | 3.48599439 |
| 6 | MAP4K2 | 3.33803854 |
| 7 | INSRR | 3.00128765 |
| 8 | PINK1 | 2.91721352 |
| 9 | PLK2 | 2.74487205 |
| 10 | BRD4 | 2.52572666 |
| 11 | CAMK1G | 2.38498507 |
| 12 | MAPK15 | 2.32384316 |
| 13 | PRKD3 | 2.29679194 |
| 14 | STK38L | 2.18413446 |
| 15 | WNK1 | 1.80432320 |
| 16 | MST1R | 1.76764835 |
| 17 | PDPK1 | 1.60129353 |
| 18 | PDK1 | 1.43107795 |
| 19 | PIK3CG | 1.36543514 |
| 20 | LATS2 | 1.23853596 |
| 21 | CDK7 | 1.19625800 |
| 22 | MAP3K9 | 1.19210919 |
| 23 | PTK2B | 1.19068306 |
| 24 | DYRK1B | 1.14438161 |
| 25 | MARK3 | 1.06116092 |
| 26 | CDK12 | 1.02755722 |
| 27 | NEK6 | 1.02567308 |
| 28 | LATS1 | 0.99625794 |
| 29 | KSR2 | 0.92612659 |
| 30 | MAP3K11 | 0.91894230 |
| 31 | BMPR1B | 0.88680200 |
| 32 | BRAF | 0.85344931 |
| 33 | TLK1 | 0.77990705 |
| 34 | RPS6KA2 | 0.75577614 |
| 35 | PRKG2 | 0.75284716 |
| 36 | CDK3 | 0.74276594 |
| 37 | ZAK | 0.72748409 |
| 38 | STK39 | 0.69759111 |
| 39 | PRKG1 | 0.69195096 |
| 40 | RPS6KA1 | 0.68403458 |
| 41 | PRKAA2 | 0.61336736 |
| 42 | AKT3 | 0.59537160 |
| 43 | CAMK1 | 0.57671870 |
| 44 | MAP3K2 | 0.56327461 |
| 45 | UHMK1 | 0.55177179 |
| 46 | WNK4 | 0.54734192 |
| 47 | SGK494 | 0.54046547 |
| 48 | SGK223 | 0.54046547 |
| 49 | CAMK1D | 0.51561141 |
| 50 | ACVR1B | 0.51047182 |
| 51 | MAP2K2 | 0.50727730 |
| 52 | MAP3K8 | 0.50569153 |
| 53 | ROCK1 | 0.49778194 |
| 54 | TYRO3 | 0.48985896 |
| 55 | NEK2 | 0.48046367 |
| 56 | MAP3K1 | 0.46536502 |
| 57 | ARAF | 0.45067606 |
| 58 | RPS6KC1 | 0.41550591 |
| 59 | RPS6KL1 | 0.41550591 |
| 60 | RPS6KA5 | 0.41481918 |
| 61 | RPS6KA6 | 0.41222320 |
| 62 | MTOR | 0.40845986 |
| 63 | GSK3B | 0.39657770 |
| 64 | MAPK1 | 0.39129452 |
| 65 | SIK2 | 0.38924247 |
| 66 | CDK4 | 0.38864329 |
| 67 | CDK2 | 0.36819595 |
| 68 | CDK1 | 0.35751790 |
| 69 | MUSK | 0.32796122 |
| 70 | OXSR1 | 0.32178153 |
| 71 | CHEK1 | 0.31318268 |
| 72 | MYLK | 0.30602201 |
| 73 | DYRK2 | 0.30496884 |
| 74 | PRKCG | 0.29932742 |
| 75 | MET | 0.29718890 |
| 76 | SGK1 | 0.27988639 |
| 77 | TIE1 | 0.27429503 |
| 78 | NTRK3 | 0.25613868 |
| 79 | CAMK4 | 0.24496110 |
| 80 | MAPK8 | 0.23980392 |
| 81 | DYRK3 | 0.23872685 |
| 82 | MAP3K13 | 0.22955364 |
| 83 | TNIK | 0.21680562 |
| 84 | PKN1 | 0.21519911 |
| 85 | MAP3K4 | 0.20959510 |
| 86 | CDK19 | 0.20825651 |
| 87 | MAP2K7 | 0.20087268 |
| 88 | PRKCZ | 0.19722187 |
| 89 | MAPK14 | 0.17808278 |
| 90 | PRKCB | 0.16577468 |
| 91 | FRK | 0.14795807 |
| 92 | AKT1 | 0.14591981 |
| 93 | PRKCQ | 0.14236447 |
| 94 | MAPK10 | 0.14139725 |
| 95 | OBSCN | 0.11996011 |
| 96 | BRSK1 | 0.11922283 |
| 97 | MARK2 | 0.10719901 |
| 98 | PASK | 0.10391722 |
| 99 | PRKACB | 0.10154265 |
| 100 | FGFR2 | 0.08935769 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 8.14079969 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 5.80210959 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.89080449 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 3.00580668 |
| 5 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 2.15469153 |
| 6 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.99741865 |
| 7 | Allograft rejection_Homo sapiens_hsa05330 | 1.81858360 |
| 8 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.79058669 |
| 9 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.76068243 |
| 10 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.73160696 |
| 11 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.67497238 |
| 12 | RNA transport_Homo sapiens_hsa03013 | 1.62328521 |
| 13 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.58712266 |
| 14 | Taste transduction_Homo sapiens_hsa04742 | 1.56582333 |
| 15 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.48786210 |
| 16 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.46246639 |
| 17 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.44278916 |
| 18 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.40805133 |
| 19 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.36602484 |
| 20 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.27308407 |
| 21 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.24528535 |
| 22 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.24191834 |
| 23 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.22822911 |
| 24 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.21968788 |
| 25 | Viral myocarditis_Homo sapiens_hsa05416 | 1.21713968 |
| 26 | Endocytosis_Homo sapiens_hsa04144 | 1.12713271 |
| 27 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.10250724 |
| 28 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.09813748 |
| 29 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.08226124 |
| 30 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.07958697 |
| 31 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.01993970 |
| 32 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.00883077 |
| 33 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.98155086 |
| 34 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.98094237 |
| 35 | Gap junction_Homo sapiens_hsa04540 | 0.95367226 |
| 36 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.92791991 |
| 37 | Phototransduction_Homo sapiens_hsa04744 | 0.88039502 |
| 38 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.85803442 |
| 39 | Salivary secretion_Homo sapiens_hsa04970 | 0.85469237 |
| 40 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.83085880 |
| 41 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.81171768 |
| 42 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.77133037 |
| 43 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.76408198 |
| 44 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.75226820 |
| 45 | Influenza A_Homo sapiens_hsa05164 | 0.74496296 |
| 46 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.74365231 |
| 47 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.72299555 |
| 48 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.70740532 |
| 49 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.67534598 |
| 50 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.66907230 |
| 51 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.63367248 |
| 52 | Retinol metabolism_Homo sapiens_hsa00830 | 0.63107715 |
| 53 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.61390750 |
| 54 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.61112762 |
| 55 | Nicotine addiction_Homo sapiens_hsa05033 | 0.59708050 |
| 56 | Purine metabolism_Homo sapiens_hsa00230 | 0.59283507 |
| 57 | Morphine addiction_Homo sapiens_hsa05032 | 0.59116645 |
| 58 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.58844904 |
| 59 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.57088812 |
| 60 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.57077456 |
| 61 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.56992255 |
| 62 | Basal transcription factors_Homo sapiens_hsa03022 | 0.56312699 |
| 63 | Phagosome_Homo sapiens_hsa04145 | 0.54559446 |
| 64 | ABC transporters_Homo sapiens_hsa02010 | 0.54491041 |
| 65 | Circadian entrainment_Homo sapiens_hsa04713 | 0.52924604 |
| 66 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.50883945 |
| 67 | Renin secretion_Homo sapiens_hsa04924 | 0.48091117 |
| 68 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.47116834 |
| 69 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.46418810 |
| 70 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.46012154 |
| 71 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.45444062 |
| 72 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.44296942 |
| 73 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.40469768 |
| 74 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.40169698 |
| 75 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.39758883 |
| 76 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.38051587 |
| 77 | Insulin secretion_Homo sapiens_hsa04911 | 0.37686547 |
| 78 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.37403314 |
| 79 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.37232458 |
| 80 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.36249679 |
| 81 | Tight junction_Homo sapiens_hsa04530 | 0.36107326 |
| 82 | Alcoholism_Homo sapiens_hsa05034 | 0.34635517 |
| 83 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.34481810 |
| 84 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.33217527 |
| 85 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.31908328 |
| 86 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.31427948 |
| 87 | Bile secretion_Homo sapiens_hsa04976 | 0.28834880 |
| 88 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.28046708 |
| 89 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.26650751 |
| 90 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.25747005 |
| 91 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.25625493 |
| 92 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.23939759 |
| 93 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.23880675 |
| 94 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.20980915 |
| 95 | Legionellosis_Homo sapiens_hsa05134 | 0.20288049 |
| 96 | Circadian rhythm_Homo sapiens_hsa04710 | 0.20259519 |
| 97 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.19215555 |
| 98 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.17028240 |
| 99 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.17020827 |
| 100 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.16887663 |

