

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | chromosome condensation (GO:0030261) | 8.61930594 |
| 2 | plasma membrane fusion (GO:0045026) | 8.45241510 |
| 3 | DNA packaging (GO:0006323) | 8.29678099 |
| 4 | sperm capacitation (GO:0048240) | 8.15047447 |
| 5 | protein targeting to Golgi (GO:0000042) | 8.04052423 |
| 6 | microtubule depolymerization (GO:0007019) | 8.01642075 |
| 7 | rRNA methylation (GO:0031167) | 8.00467685 |
| 8 | establishment of protein localization to Golgi (GO:0072600) | 7.77504100 |
| 9 | protein polyglutamylation (GO:0018095) | 7.67909526 |
| 10 | single strand break repair (GO:0000012) | 7.65170827 |
| 11 | response to pheromone (GO:0019236) | 7.62515075 |
| 12 | spermatid development (GO:0007286) | 7.60747950 |
| 13 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 7.44572480 |
| 14 | sperm-egg recognition (GO:0035036) | 7.19034281 |
| 15 | microtubule polymerization or depolymerization (GO:0031109) | 7.18992454 |
| 16 | spermatid nucleus differentiation (GO:0007289) | 7.14526162 |
| 17 | multicellular organism reproduction (GO:0032504) | 6.99617133 |
| 18 | rRNA modification (GO:0000154) | 6.76416646 |
| 19 | spermatogenesis (GO:0007283) | 6.43431150 |
| 20 | male gamete generation (GO:0048232) | 6.41254341 |
| 21 | centriole replication (GO:0007099) | 6.40829093 |
| 22 | reproduction (GO:0000003) | 6.36653965 |
| 23 | binding of sperm to zona pellucida (GO:0007339) | 6.29960912 |
| 24 | axonemal dynein complex assembly (GO:0070286) | 6.29040349 |
| 25 | calcium ion-dependent exocytosis (GO:0017156) | 6.28816585 |
| 26 | seminiferous tubule development (GO:0072520) | 6.12524691 |
| 27 | regulation of centriole replication (GO:0046599) | 6.03654217 |
| 28 | protein localization to Golgi apparatus (GO:0034067) | 6.01280099 |
| 29 | cell-cell recognition (GO:0009988) | 5.91016756 |
| 30 | gamete generation (GO:0007276) | 5.87687015 |
| 31 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.85840928 |
| 32 | RNA destabilization (GO:0050779) | 5.69137691 |
| 33 | centriole assembly (GO:0098534) | 5.63389923 |
| 34 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.61408624 |
| 35 | sexual reproduction (GO:0019953) | 5.55660173 |
| 36 | motile cilium assembly (GO:0044458) | 5.55291507 |
| 37 | single fertilization (GO:0007338) | 5.24696829 |
| 38 | microtubule severing (GO:0051013) | 5.21704577 |
| 39 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.00836468 |
| 40 | negative regulation of inclusion body assembly (GO:0090084) | 4.99770316 |
| 41 | regulation of Rab GTPase activity (GO:0032313) | 4.86629062 |
| 42 | positive regulation of Rab GTPase activity (GO:0032851) | 4.86629062 |
| 43 | epithelial cilium movement (GO:0003351) | 4.75618575 |
| 44 | multicellular organismal reproductive process (GO:0048609) | 4.66956010 |
| 45 | regulation of cilium movement (GO:0003352) | 4.62490510 |
| 46 | fertilization (GO:0009566) | 4.54123558 |
| 47 | germ cell development (GO:0007281) | 4.37013209 |
| 48 | glomerular visceral epithelial cell development (GO:0072015) | 4.36536520 |
| 49 | cell wall macromolecule catabolic process (GO:0016998) | 4.35505318 |
| 50 | cellular ketone body metabolic process (GO:0046950) | 4.35024544 |
| 51 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 4.29401830 |
| 52 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.26561788 |
| 53 | cell wall macromolecule metabolic process (GO:0044036) | 4.22540907 |
| 54 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.17244184 |
| 55 | musculoskeletal movement (GO:0050881) | 4.16012670 |
| 56 | multicellular organismal movement (GO:0050879) | 4.16012670 |
| 57 | nucleus organization (GO:0006997) | 4.11725214 |
| 58 | glomerular epithelial cell development (GO:0072310) | 4.06354381 |
| 59 | cilium movement (GO:0003341) | 4.04793440 |
| 60 | microtubule nucleation (GO:0007020) | 3.91744288 |
| 61 | ketone body metabolic process (GO:1902224) | 3.81857410 |
| 62 | glycerol ether metabolic process (GO:0006662) | 3.71402149 |
| 63 | chromatin silencing (GO:0006342) | 3.69127024 |
| 64 | regulation of inclusion body assembly (GO:0090083) | 3.58915498 |
| 65 | ether metabolic process (GO:0018904) | 3.41449589 |
| 66 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.35843627 |
| 67 | tRNA methylation (GO:0030488) | 3.34249465 |
| 68 | axoneme assembly (GO:0035082) | 3.31538849 |
| 69 | intra-Golgi vesicle-mediated transport (GO:0006891) | 3.22386843 |
| 70 | organic cation transport (GO:0015695) | 3.22112430 |
| 71 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.18520763 |
| 72 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.18221557 |
| 73 | RNA methylation (GO:0001510) | 3.15778421 |
| 74 | piRNA metabolic process (GO:0034587) | 3.10285593 |
| 75 | positive regulation of guanylate cyclase activity (GO:0031284) | 3.09742817 |
| 76 | regulation of interleukin-13 production (GO:0032656) | 3.04909954 |
| 77 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.01195340 |
| 78 | coenzyme catabolic process (GO:0009109) | 2.98889754 |
| 79 | multicellular organismal development (GO:0007275) | 2.96016537 |
| 80 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.95097200 |
| 81 | nuclear pore complex assembly (GO:0051292) | 2.94869549 |
| 82 | male meiosis I (GO:0007141) | 2.93891625 |
| 83 | DNA methylation involved in gamete generation (GO:0043046) | 2.93238522 |
| 84 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 2.92833935 |
| 85 | male meiosis (GO:0007140) | 2.89974896 |
| 86 | regulation of guanylate cyclase activity (GO:0031282) | 2.88506060 |
| 87 | homeostasis of number of cells within a tissue (GO:0048873) | 2.83528598 |
| 88 | regulation of T-helper 2 cell differentiation (GO:0045628) | 2.79805037 |
| 89 | NAD biosynthetic process (GO:0009435) | 2.76637179 |
| 90 | mast cell activation involved in immune response (GO:0002279) | 2.75781075 |
| 91 | mast cell degranulation (GO:0043303) | 2.75781075 |
| 92 | protein depolymerization (GO:0051261) | 2.75702411 |
| 93 | Golgi to endosome transport (GO:0006895) | 2.75414718 |
| 94 | cell recognition (GO:0008037) | 2.75289823 |
| 95 | ventricular system development (GO:0021591) | 2.71225004 |
| 96 | cerebral cortex neuron differentiation (GO:0021895) | 2.70651022 |
| 97 | cell differentiation involved in metanephros development (GO:0072202) | 2.69758590 |
| 98 | sperm motility (GO:0030317) | 11.8652165 |
| 99 | fusion of sperm to egg plasma membrane (GO:0007342) | 11.1721922 |
| 100 | acrosome reaction (GO:0007340) | 11.0995891 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 4.93515375 |
| 2 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.17638248 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.57362273 |
| 4 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.43340331 |
| 5 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.43340331 |
| 6 | FUS_26573619_Chip-Seq_HEK293_Human | 2.30766552 |
| 7 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.29211368 |
| 8 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.28482487 |
| 9 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.28482487 |
| 10 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.24654666 |
| 11 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.19786551 |
| 12 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.18930644 |
| 13 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.13145307 |
| 14 | RAC3_21632823_ChIP-Seq_H3396_Human | 2.00066652 |
| 15 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.99549785 |
| 16 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.92021995 |
| 17 | ERA_21632823_ChIP-Seq_H3396_Human | 1.90717623 |
| 18 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.84844549 |
| 19 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.83690353 |
| 20 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.82393161 |
| 21 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.81606983 |
| 22 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.80560865 |
| 23 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.76331029 |
| 24 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.74722294 |
| 25 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.72932704 |
| 26 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.72591684 |
| 27 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.72402931 |
| 28 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.71898523 |
| 29 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.69125478 |
| 30 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.69101860 |
| 31 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.67316841 |
| 32 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.65260078 |
| 33 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.64072783 |
| 34 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.56717457 |
| 35 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.56038736 |
| 36 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.55183145 |
| 37 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.53362700 |
| 38 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.52494497 |
| 39 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.51166229 |
| 40 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.47781212 |
| 41 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.46478255 |
| 42 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.46326541 |
| 43 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.46250941 |
| 44 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.45849160 |
| 45 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.45585307 |
| 46 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.44921185 |
| 47 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.43525473 |
| 48 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.43110589 |
| 49 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.41907778 |
| 50 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.41761854 |
| 51 | P300_19829295_ChIP-Seq_ESCs_Human | 1.41582050 |
| 52 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.39796215 |
| 53 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.39666475 |
| 54 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.39324864 |
| 55 | P300_27268052_Chip-Seq_Bcells_Human | 1.36822719 |
| 56 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.36103758 |
| 57 | NFYB_21822215_ChIP-Seq_K562_Human | 1.34865553 |
| 58 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.34691457 |
| 59 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.33784455 |
| 60 | AR_25329375_ChIP-Seq_VCAP_Human | 1.32433163 |
| 61 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.31527210 |
| 62 | P68_20966046_ChIP-Seq_HELA_Human | 1.30507290 |
| 63 | TBL1_22424771_ChIP-Seq_293T_Human | 1.29519259 |
| 64 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.29072616 |
| 65 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.27723936 |
| 66 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.27274335 |
| 67 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.26349466 |
| 68 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.26102205 |
| 69 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.25811706 |
| 70 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.25583873 |
| 71 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.23564693 |
| 72 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.23194656 |
| 73 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.23145236 |
| 74 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.21898586 |
| 75 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.21250294 |
| 76 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.20184242 |
| 77 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.20184242 |
| 78 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.18539274 |
| 79 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.18504392 |
| 80 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.16082782 |
| 81 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.15847612 |
| 82 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.15655487 |
| 83 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.15184357 |
| 84 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.15184357 |
| 85 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.14398306 |
| 86 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.13686519 |
| 87 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.12451829 |
| 88 | NFYA_21822215_ChIP-Seq_K562_Human | 1.09278985 |
| 89 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.08742108 |
| 90 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.07973744 |
| 91 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.06476648 |
| 92 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.06226982 |
| 93 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.05494435 |
| 94 | SA1_27219007_Chip-Seq_Bcells_Human | 1.05058070 |
| 95 | STAT3_23295773_ChIP-Seq_U87_Human | 1.04895068 |
| 96 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.04651107 |
| 97 | VDR_22108803_ChIP-Seq_LS180_Human | 1.04278908 |
| 98 | SPI1_20517297_ChIP-Seq_HL60_Human | 1.03690071 |
| 99 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.03655081 |
| 100 | NCOR_22424771_ChIP-Seq_293T_Human | 1.03144206 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003878_abnormal_ear_physiology | 5.68769460 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 5.68769460 |
| 3 | MP0003698_abnormal_male_reproductive | 4.13780184 |
| 4 | MP0005670_abnormal_white_adipose | 3.97740258 |
| 5 | MP0001929_abnormal_gametogenesis | 3.63918595 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.41160919 |
| 7 | MP0003646_muscle_fatigue | 2.46569485 |
| 8 | MP0003718_maternal_effect | 2.45140158 |
| 9 | MP0005451_abnormal_body_composition | 2.26710677 |
| 10 | MP0002161_abnormal_fertility/fecundity | 2.19272874 |
| 11 | MP0005379_endocrine/exocrine_gland_phen | 2.04045674 |
| 12 | MP0005410_abnormal_fertilization | 11.2280499 |
| 13 | MP0004742_abnormal_vestibular_system | 1.88179455 |
| 14 | MP0001486_abnormal_startle_reflex | 1.78033659 |
| 15 | MP0000678_abnormal_parathyroid_gland | 1.74292409 |
| 16 | MP0002210_abnormal_sex_determination | 1.70746593 |
| 17 | MP0001485_abnormal_pinna_reflex | 1.70401183 |
| 18 | MP0002132_abnormal_respiratory_system | 1.60085519 |
| 19 | MP0005310_abnormal_salivary_gland | 1.52224142 |
| 20 | MP0003011_delayed_dark_adaptation | 1.48888161 |
| 21 | MP0002234_abnormal_pharynx_morphology | 1.44890238 |
| 22 | MP0002822_catalepsy | 1.40620315 |
| 23 | MP0001145_abnormal_male_reproductive | 1.40484834 |
| 24 | MP0000653_abnormal_sex_gland | 1.34155388 |
| 25 | MP0009053_abnormal_anal_canal | 1.31498930 |
| 26 | MP0002282_abnormal_trachea_morphology | 1.26761553 |
| 27 | MP0005423_abnormal_somatic_nervous | 1.26669931 |
| 28 | MP0003879_abnormal_hair_cell | 1.23063746 |
| 29 | MP0005551_abnormal_eye_electrophysiolog | 1.21042855 |
| 30 | MP0005253_abnormal_eye_physiology | 1.14871369 |
| 31 | MP0001765_abnormal_ion_homeostasis | 1.14809799 |
| 32 | MP0001963_abnormal_hearing_physiology | 1.12074774 |
| 33 | MP0005645_abnormal_hypothalamus_physiol | 1.06842683 |
| 34 | MP0009697_abnormal_copulation | 1.06617050 |
| 35 | MP0009115_abnormal_fat_cell | 1.05726104 |
| 36 | MP0005395_other_phenotype | 1.04226759 |
| 37 | MP0008877_abnormal_DNA_methylation | 1.03779003 |
| 38 | MP0008789_abnormal_olfactory_epithelium | 1.03247573 |
| 39 | MP0002653_abnormal_ependyma_morphology | 1.02744235 |
| 40 | MP0000026_abnormal_inner_ear | 0.99899344 |
| 41 | MP0006292_abnormal_olfactory_placode | 0.98306674 |
| 42 | MP0005084_abnormal_gallbladder_morpholo | 0.95204222 |
| 43 | MP0002735_abnormal_chemical_nociception | 0.93691796 |
| 44 | MP0005167_abnormal_blood-brain_barrier | 0.92835539 |
| 45 | MP0009278_abnormal_bone_marrow | 0.88172363 |
| 46 | MP0005397_hematopoietic_system_phenotyp | 0.83254072 |
| 47 | MP0001545_abnormal_hematopoietic_system | 0.83254072 |
| 48 | MP0002229_neurodegeneration | 0.83152857 |
| 49 | MP0001968_abnormal_touch/_nociception | 0.82045991 |
| 50 | MP0001501_abnormal_sleep_pattern | 0.81722724 |
| 51 | MP0002138_abnormal_hepatobiliary_system | 0.78459317 |
| 52 | MP0005636_abnormal_mineral_homeostasis | 0.78237802 |
| 53 | MP0005394_taste/olfaction_phenotype | 0.76757500 |
| 54 | MP0005499_abnormal_olfactory_system | 0.76757500 |
| 55 | MP0002733_abnormal_thermal_nociception | 0.75778279 |
| 56 | MP0004085_abnormal_heartbeat | 0.75064294 |
| 57 | MP0002067_abnormal_sensory_capabilities | 0.74712522 |
| 58 | MP0002127_abnormal_cardiovascular_syste | 0.72794728 |
| 59 | MP0005083_abnormal_biliary_tract | 0.72518312 |
| 60 | MP0001984_abnormal_olfaction | 0.71286732 |
| 61 | MP0002557_abnormal_social/conspecific_i | 0.69578578 |
| 62 | MP0008995_early_reproductive_senescence | 0.68019157 |
| 63 | MP0004859_abnormal_synaptic_plasticity | 0.67834781 |
| 64 | MP0001905_abnormal_dopamine_level | 0.67538001 |
| 65 | MP0000955_abnormal_spinal_cord | 0.67063571 |
| 66 | MP0000230_abnormal_systemic_arterial | 0.63913358 |
| 67 | MP0002572_abnormal_emotion/affect_behav | 0.63449357 |
| 68 | MP0008569_lethality_at_weaning | 0.62061063 |
| 69 | MP0002249_abnormal_larynx_morphology | 0.59630341 |
| 70 | MP0008961_abnormal_basal_metabolism | 0.55534996 |
| 71 | MP0009764_decreased_sensitivity_to | 0.53811876 |
| 72 | MP0003137_abnormal_impulse_conducting | 0.53609729 |
| 73 | MP0005391_vision/eye_phenotype | 0.53107701 |
| 74 | MP0002254_reproductive_system_inflammat | 0.50710827 |
| 75 | MP0001666_abnormal_nutrient_absorption | 0.50608951 |
| 76 | MP0000534_abnormal_ureter_morphology | 0.50416228 |
| 77 | MP0002272_abnormal_nervous_system | 0.49610367 |
| 78 | MP0005535_abnormal_body_temperature | 0.49566039 |
| 79 | MP0004510_myositis | 0.49544675 |
| 80 | MP0001440_abnormal_grooming_behavior | 0.49396279 |
| 81 | MP0005408_hypopigmentation | 0.47915491 |
| 82 | MP0005332_abnormal_amino_acid | 0.46865169 |
| 83 | MP0010329_abnormal_lipoprotein_level | 0.46746414 |
| 84 | MP0002928_abnormal_bile_duct | 0.46139476 |
| 85 | MP0005666_abnormal_adipose_tissue | 0.45135753 |
| 86 | MP0001970_abnormal_pain_threshold | 0.44214062 |
| 87 | MP0003936_abnormal_reproductive_system | 0.43001975 |
| 88 | MP0009745_abnormal_behavioral_response | 0.42934592 |
| 89 | MP0006072_abnormal_retinal_apoptosis | 0.42244158 |
| 90 | MP0005646_abnormal_pituitary_gland | 0.39843816 |
| 91 | MP0003880_abnormal_central_pattern | 0.38561549 |
| 92 | MP0002269_muscular_atrophy | 0.37712537 |
| 93 | MP0005595_abnormal_vascular_smooth | 0.36866538 |
| 94 | MP0003077_abnormal_cell_cycle | 0.36654527 |
| 95 | MP0006276_abnormal_autonomic_nervous | 0.36510261 |
| 96 | MP0000049_abnormal_middle_ear | 0.36455702 |
| 97 | MP0004036_abnormal_muscle_relaxation | 0.35113446 |
| 98 | MP0008872_abnormal_physiological_respon | 0.35014942 |
| 99 | MP0001270_distended_abdomen | 0.34907739 |
| 100 | MP0000470_abnormal_stomach_morphology | 0.34296658 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 7.68796654 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 6.40222666 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.40222666 |
| 4 | Tubulointerstitial nephritis (HP:0001970) | 6.01677705 |
| 5 | Chronic hepatic failure (HP:0100626) | 5.75303096 |
| 6 | Asymmetric septal hypertrophy (HP:0001670) | 5.55891143 |
| 7 | Attenuation of retinal blood vessels (HP:0007843) | 5.15744428 |
| 8 | Bony spicule pigmentary retinopathy (HP:0007737) | 5.02678035 |
| 9 | Abnormal ciliary motility (HP:0012262) | 4.51847654 |
| 10 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.33169779 |
| 11 | Nasal polyposis (HP:0100582) | 4.20634602 |
| 12 | Hyperkalemia (HP:0002153) | 4.19643582 |
| 13 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.17511003 |
| 14 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.14734298 |
| 15 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.14734298 |
| 16 | Cone-rod dystrophy (HP:0000548) | 4.13929561 |
| 17 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.01221829 |
| 18 | Abnormality of macular pigmentation (HP:0008002) | 3.87866766 |
| 19 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.83163781 |
| 20 | Male infertility (HP:0003251) | 3.74986014 |
| 21 | Hypoplasia of the thymus (HP:0000778) | 3.70247043 |
| 22 | Infertility (HP:0000789) | 3.67281295 |
| 23 | Impulsivity (HP:0100710) | 3.58706288 |
| 24 | Resting tremor (HP:0002322) | 3.56189428 |
| 25 | Menstrual irregularities (HP:0000858) | 3.52585644 |
| 26 | Abnormality of the nasal mucosa (HP:0000433) | 3.41683157 |
| 27 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.41583247 |
| 28 | Abnormality of dental color (HP:0011073) | 3.37767030 |
| 29 | Amelogenesis imperfecta (HP:0000705) | 3.29572610 |
| 30 | Facial shape deformation (HP:0011334) | 3.24512395 |
| 31 | Potter facies (HP:0002009) | 3.24512395 |
| 32 | Progressive cerebellar ataxia (HP:0002073) | 3.24255950 |
| 33 | Nephronophthisis (HP:0000090) | 3.07490269 |
| 34 | Hypoalphalipoproteinemia (HP:0003233) | 3.07373951 |
| 35 | Abnormal spermatogenesis (HP:0008669) | 3.04106925 |
| 36 | Tubulointerstitial abnormality (HP:0001969) | 3.01079644 |
| 37 | Stage 5 chronic kidney disease (HP:0003774) | 2.92856145 |
| 38 | Abnormality of the renal medulla (HP:0100957) | 2.92254663 |
| 39 | Abnormal urine output (HP:0012590) | 2.89893953 |
| 40 | Abnormal drinking behavior (HP:0030082) | 2.89252091 |
| 41 | Polydipsia (HP:0001959) | 2.89252091 |
| 42 | Portal hypertension (HP:0001409) | 2.87673981 |
| 43 | Progressive sensorineural hearing impairment (HP:0000408) | 2.83011345 |
| 44 | Generalized aminoaciduria (HP:0002909) | 2.82907098 |
| 45 | Bell-shaped thorax (HP:0001591) | 2.80847417 |
| 46 | Rhinitis (HP:0012384) | 2.76308873 |
| 47 | Enlarged epiphyses (HP:0010580) | 2.76013726 |
| 48 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.74461520 |
| 49 | Postural instability (HP:0002172) | 2.61815181 |
| 50 | Azoospermia (HP:0000027) | 2.61653173 |
| 51 | Polyuria (HP:0000103) | 2.61577945 |
| 52 | Abnormality of the hepatic vasculature (HP:0006707) | 2.61256472 |
| 53 | Abnormality of the costochondral junction (HP:0000919) | 2.57338950 |
| 54 | Decreased central vision (HP:0007663) | 2.54173456 |
| 55 | Abnormality of potassium homeostasis (HP:0011042) | 2.49624912 |
| 56 | Truncal obesity (HP:0001956) | 2.46796703 |
| 57 | Abnormality of renal excretion (HP:0011036) | 2.44605695 |
| 58 | Chronic bronchitis (HP:0004469) | 2.43355897 |
| 59 | Hypoplastic ischia (HP:0003175) | 2.38574527 |
| 60 | Type 2 muscle fiber atrophy (HP:0003554) | 2.34229164 |
| 61 | Renal dysplasia (HP:0000110) | 2.23629617 |
| 62 | Muscle fiber atrophy (HP:0100295) | 2.23556038 |
| 63 | Increased purine levels (HP:0004368) | 2.20940646 |
| 64 | Hyperuricemia (HP:0002149) | 2.20940646 |
| 65 | Renovascular hypertension (HP:0100817) | 2.16392779 |
| 66 | Renal Fanconi syndrome (HP:0001994) | 2.14474160 |
| 67 | Flat capital femoral epiphysis (HP:0003370) | 2.11884487 |
| 68 | Abnormality of the aortic arch (HP:0012303) | 2.11797537 |
| 69 | Focal segmental glomerulosclerosis (HP:0000097) | 2.06488679 |
| 70 | Intellectual disability, moderate (HP:0002342) | 2.03800406 |
| 71 | Pendular nystagmus (HP:0012043) | 2.02192329 |
| 72 | Abnormality of the ischium (HP:0003174) | 2.01162793 |
| 73 | Hyponatremia (HP:0002902) | 1.97008778 |
| 74 | Optic nerve hypoplasia (HP:0000609) | 1.96891647 |
| 75 | Failure to thrive in infancy (HP:0001531) | 1.95088485 |
| 76 | Bronchiectasis (HP:0002110) | 1.94956825 |
| 77 | Photophobia (HP:0000613) | 1.93413576 |
| 78 | Subcapsular cataract (HP:0000523) | 1.92705996 |
| 79 | Recurrent pneumonia (HP:0006532) | 1.91611160 |
| 80 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.89717162 |
| 81 | Flattened epiphyses (HP:0003071) | 1.83796003 |
| 82 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.83449179 |
| 83 | Glomerulosclerosis (HP:0000096) | 1.83348240 |
| 84 | Hypoalbuminemia (HP:0003073) | 1.79233051 |
| 85 | Abnormal albumin level (HP:0012116) | 1.79233051 |
| 86 | Cerebellar dysplasia (HP:0007033) | 1.78429146 |
| 87 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 1.77713290 |
| 88 | Unilateral renal agenesis (HP:0000122) | 1.76544553 |
| 89 | Tetany (HP:0001281) | 1.76389299 |
| 90 | Abnormality of urine glucose concentration (HP:0011016) | 1.74658227 |
| 91 | Glycosuria (HP:0003076) | 1.74658227 |
| 92 | Ventricular tachycardia (HP:0004756) | 1.74446199 |
| 93 | Type II diabetes mellitus (HP:0005978) | 1.73411619 |
| 94 | Abnormality of femoral epiphyses (HP:0006499) | 1.72507256 |
| 95 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 1.72507256 |
| 96 | Congenital sensorineural hearing impairment (HP:0008527) | 1.72277848 |
| 97 | Fatigable weakness (HP:0003473) | 1.71263564 |
| 98 | Abnormality of the neuromuscular junction (HP:0003398) | 1.71263564 |
| 99 | Horizontal nystagmus (HP:0000666) | 1.71122695 |
| 100 | Pancreatic fibrosis (HP:0100732) | 1.70855441 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 9.16117650 |
| 2 | INSRR | 5.22799176 |
| 3 | BRD4 | 4.24291689 |
| 4 | TESK1 | 4.24127223 |
| 5 | PLK2 | 3.36205125 |
| 6 | MAP4K2 | 3.28706184 |
| 7 | DDR2 | 3.07261547 |
| 8 | PIK3CG | 2.38103928 |
| 9 | PNCK | 2.36845138 |
| 10 | STK38 | 2.34259353 |
| 11 | CAMK1G | 2.32761132 |
| 12 | TXK | 2.19154349 |
| 13 | MAPK15 | 1.80554555 |
| 14 | STK38L | 1.78545387 |
| 15 | MAP2K2 | 1.60452719 |
| 16 | PTK2B | 1.52756095 |
| 17 | TAOK3 | 1.39478069 |
| 18 | PDK1 | 1.33058232 |
| 19 | TYRO3 | 1.27927210 |
| 20 | WNK1 | 1.21755408 |
| 21 | PDPK1 | 1.12885968 |
| 22 | CAMK1D | 1.12310537 |
| 23 | NEK6 | 1.05465871 |
| 24 | TESK2 | 1.04635306 |
| 25 | WNK4 | 1.03289666 |
| 26 | NUAK1 | 1.00866721 |
| 27 | MST1R | 0.96330932 |
| 28 | PRKD3 | 0.95127809 |
| 29 | DYRK1B | 0.92710818 |
| 30 | CDK12 | 0.91012206 |
| 31 | TIE1 | 0.87936221 |
| 32 | TLK1 | 0.84972973 |
| 33 | CDK7 | 0.83245031 |
| 34 | JAK3 | 0.82399894 |
| 35 | ZAK | 0.80933681 |
| 36 | IKBKB | 0.80450587 |
| 37 | BRSK2 | 0.77276730 |
| 38 | STK39 | 0.74549160 |
| 39 | MAP3K11 | 0.73075200 |
| 40 | KIT | 0.65774575 |
| 41 | MAPK11 | 0.60313073 |
| 42 | RPS6KA1 | 0.59849860 |
| 43 | PRKAA2 | 0.59077384 |
| 44 | BRSK1 | 0.56928745 |
| 45 | MAP3K9 | 0.55645324 |
| 46 | ICK | 0.53091071 |
| 47 | KDR | 0.51929202 |
| 48 | CAMK1 | 0.51091931 |
| 49 | TAF1 | 0.50246665 |
| 50 | RPS6KA6 | 0.47902958 |
| 51 | OXSR1 | 0.47864215 |
| 52 | IKBKE | 0.47761691 |
| 53 | RPS6KC1 | 0.47326848 |
| 54 | RPS6KL1 | 0.47326848 |
| 55 | RPS6KA2 | 0.46931510 |
| 56 | PRKG1 | 0.44645598 |
| 57 | SIK2 | 0.43393984 |
| 58 | PRKG2 | 0.42683753 |
| 59 | TBK1 | 0.42370933 |
| 60 | MAPKAPK5 | 0.40345352 |
| 61 | TNK2 | 0.40057051 |
| 62 | MAPK1 | 0.36560407 |
| 63 | BMPR1B | 0.35642671 |
| 64 | AKT3 | 0.35063327 |
| 65 | ADRBK2 | 0.35028773 |
| 66 | TEC | 0.34197842 |
| 67 | PRKCZ | 0.33264366 |
| 68 | FRK | 0.33122047 |
| 69 | CDK19 | 0.29947202 |
| 70 | CDK3 | 0.29467599 |
| 71 | CDK2 | 0.29241749 |
| 72 | CAMKK2 | 0.28477328 |
| 73 | MAP4K1 | 0.28459549 |
| 74 | SYK | 0.27898018 |
| 75 | MAP2K1 | 0.27870246 |
| 76 | PRKCG | 0.27389362 |
| 77 | CDK1 | 0.27383754 |
| 78 | GSK3B | 0.27251957 |
| 79 | BLK | 0.25902329 |
| 80 | KSR2 | 0.25587291 |
| 81 | CHEK1 | 0.24241591 |
| 82 | SGK1 | 0.23876871 |
| 83 | PRKCQ | 0.23025292 |
| 84 | LATS1 | 0.21947822 |
| 85 | PRKCB | 0.21548531 |
| 86 | CAMK4 | 0.21399648 |
| 87 | ROCK1 | 0.20472810 |
| 88 | VRK1 | 0.19884077 |
| 89 | NTRK3 | 0.18930301 |
| 90 | MAPK8 | 0.18831283 |
| 91 | MUSK | 0.17619107 |
| 92 | CDK9 | 0.17310373 |
| 93 | FLT3 | 0.17236973 |
| 94 | MAP3K13 | 0.16442489 |
| 95 | GRK1 | 0.14834294 |
| 96 | DYRK1A | 0.13116447 |
| 97 | UHMK1 | 0.13058661 |
| 98 | MAPK14 | 0.13004328 |
| 99 | AKT1 | 0.12677989 |
| 100 | MAP3K7 | 0.10738498 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 5.98310054 |
| 2 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 5.89158664 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 4.17556725 |
| 4 | Allograft rejection_Homo sapiens_hsa05330 | 2.74559853 |
| 5 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 2.68609861 |
| 6 | Graft-versus-host disease_Homo sapiens_hsa05332 | 2.56656789 |
| 7 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 2.52396687 |
| 8 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.37393675 |
| 9 | RNA transport_Homo sapiens_hsa03013 | 2.26148380 |
| 10 | Phototransduction_Homo sapiens_hsa04744 | 2.21972643 |
| 11 | Antigen processing and presentation_Homo sapiens_hsa04612 | 2.05291587 |
| 12 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.02473845 |
| 13 | Taste transduction_Homo sapiens_hsa04742 | 1.78638886 |
| 14 | Viral myocarditis_Homo sapiens_hsa05416 | 1.76464455 |
| 15 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.54775827 |
| 16 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.50994311 |
| 17 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.43641983 |
| 18 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.39182307 |
| 19 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.35416545 |
| 20 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.26377185 |
| 21 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.25800810 |
| 22 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.19712261 |
| 23 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.19282984 |
| 24 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 1.17469393 |
| 25 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.11511256 |
| 26 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.10177730 |
| 27 | Influenza A_Homo sapiens_hsa05164 | 1.08443990 |
| 28 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.05151535 |
| 29 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.03242409 |
| 30 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.03180278 |
| 31 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.00172882 |
| 32 | Asthma_Homo sapiens_hsa05310 | 0.99852865 |
| 33 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.98367562 |
| 34 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.97467331 |
| 35 | Salivary secretion_Homo sapiens_hsa04970 | 0.94499532 |
| 36 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.94187683 |
| 37 | ABC transporters_Homo sapiens_hsa02010 | 0.94094654 |
| 38 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.94047765 |
| 39 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.93902705 |
| 40 | Nicotine addiction_Homo sapiens_hsa05033 | 0.92004804 |
| 41 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.90156545 |
| 42 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.86884488 |
| 43 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.85857078 |
| 44 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.85488903 |
| 45 | Morphine addiction_Homo sapiens_hsa05032 | 0.84334901 |
| 46 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.81765720 |
| 47 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.79641272 |
| 48 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.79534445 |
| 49 | Basal transcription factors_Homo sapiens_hsa03022 | 0.78538157 |
| 50 | Retinol metabolism_Homo sapiens_hsa00830 | 0.77742710 |
| 51 | Purine metabolism_Homo sapiens_hsa00230 | 0.71872383 |
| 52 | Base excision repair_Homo sapiens_hsa03410 | 0.71725203 |
| 53 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.70640395 |
| 54 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.69845249 |
| 55 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.69133646 |
| 56 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.68941519 |
| 57 | Huntingtons disease_Homo sapiens_hsa05016 | 0.67305114 |
| 58 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.66964507 |
| 59 | Endocytosis_Homo sapiens_hsa04144 | 0.65441698 |
| 60 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.64414341 |
| 61 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.62255013 |
| 62 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.60614945 |
| 63 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.58113609 |
| 64 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.56040356 |
| 65 | Renin secretion_Homo sapiens_hsa04924 | 0.55359904 |
| 66 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.50260355 |
| 67 | Sulfur relay system_Homo sapiens_hsa04122 | 0.48992563 |
| 68 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.47719184 |
| 69 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.46343101 |
| 70 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.44775406 |
| 71 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.44760843 |
| 72 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.43749716 |
| 73 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.43592281 |
| 74 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.42011730 |
| 75 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.41802996 |
| 76 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.39206776 |
| 77 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.39117049 |
| 78 | Legionellosis_Homo sapiens_hsa05134 | 0.39112924 |
| 79 | Metabolic pathways_Homo sapiens_hsa01100 | 0.38794183 |
| 80 | Circadian entrainment_Homo sapiens_hsa04713 | 0.38701831 |
| 81 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.38234097 |
| 82 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.35508152 |
| 83 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.34229719 |
| 84 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.34157661 |
| 85 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.33952833 |
| 86 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.33906473 |
| 87 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.33273779 |
| 88 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.31821732 |
| 89 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.29245717 |
| 90 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 0.29235299 |
| 91 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.26861498 |
| 92 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.26351111 |
| 93 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.26212547 |
| 94 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.24590901 |
| 95 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.23385422 |
| 96 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.23322839 |
| 97 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.23169393 |
| 98 | Measles_Homo sapiens_hsa05162 | 0.22886544 |
| 99 | Peroxisome_Homo sapiens_hsa04146 | 0.22011581 |
| 100 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 0.21656816 |

