

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | chromosome condensation (GO:0030261) | 9.26553857 |
| 2 | sperm capacitation (GO:0048240) | 9.07309896 |
| 3 | DNA packaging (GO:0006323) | 8.93198548 |
| 4 | response to pheromone (GO:0019236) | 8.51810303 |
| 5 | plasma membrane fusion (GO:0045026) | 8.35204823 |
| 6 | spermatid development (GO:0007286) | 8.20577898 |
| 7 | microtubule depolymerization (GO:0007019) | 7.93124216 |
| 8 | spermatid nucleus differentiation (GO:0007289) | 7.85198838 |
| 9 | single strand break repair (GO:0000012) | 7.71460612 |
| 10 | sperm-egg recognition (GO:0035036) | 7.44420807 |
| 11 | protein targeting to Golgi (GO:0000042) | 7.31198955 |
| 12 | rRNA methylation (GO:0031167) | 7.02771418 |
| 13 | establishment of protein localization to Golgi (GO:0072600) | 7.02517045 |
| 14 | multicellular organism reproduction (GO:0032504) | 7.00464471 |
| 15 | binding of sperm to zona pellucida (GO:0007339) | 6.92773475 |
| 16 | protein polyglutamylation (GO:0018095) | 6.86423518 |
| 17 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 6.84238245 |
| 18 | microtubule polymerization or depolymerization (GO:0031109) | 6.71347536 |
| 19 | reproduction (GO:0000003) | 6.62273399 |
| 20 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.56059133 |
| 21 | sexual reproduction (GO:0019953) | 6.50251550 |
| 22 | calcium ion-dependent exocytosis (GO:0017156) | 6.49916490 |
| 23 | negative regulation of inclusion body assembly (GO:0090084) | 6.34331181 |
| 24 | axonemal dynein complex assembly (GO:0070286) | 6.30885329 |
| 25 | spermatogenesis (GO:0007283) | 6.19795727 |
| 26 | male gamete generation (GO:0048232) | 6.17559951 |
| 27 | cell-cell recognition (GO:0009988) | 6.17135390 |
| 28 | phosphatidylethanolamine metabolic process (GO:0046337) | 6.04972234 |
| 29 | centriole replication (GO:0007099) | 5.86764373 |
| 30 | rRNA modification (GO:0000154) | 5.84530911 |
| 31 | microtubule severing (GO:0051013) | 5.82321199 |
| 32 | gamete generation (GO:0007276) | 5.66279759 |
| 33 | centriole assembly (GO:0098534) | 5.33119269 |
| 34 | positive regulation of Rab GTPase activity (GO:0032851) | 5.29144132 |
| 35 | regulation of Rab GTPase activity (GO:0032313) | 5.29144132 |
| 36 | motile cilium assembly (GO:0044458) | 5.21109579 |
| 37 | protein localization to Golgi apparatus (GO:0034067) | 5.20006670 |
| 38 | single fertilization (GO:0007338) | 5.11416627 |
| 39 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.02525246 |
| 40 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 4.97485543 |
| 41 | cellular ketone body metabolic process (GO:0046950) | 4.95674537 |
| 42 | regulation of cilium movement (GO:0003352) | 4.89932866 |
| 43 | RNA destabilization (GO:0050779) | 4.78356626 |
| 44 | germ cell development (GO:0007281) | 4.71174926 |
| 45 | cell wall macromolecule catabolic process (GO:0016998) | 4.63726334 |
| 46 | regulation of centriole replication (GO:0046599) | 4.62064903 |
| 47 | multicellular organismal reproductive process (GO:0048609) | 4.55550174 |
| 48 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.55230086 |
| 49 | cell wall macromolecule metabolic process (GO:0044036) | 4.51014446 |
| 50 | seminiferous tubule development (GO:0072520) | 4.50852023 |
| 51 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.49145240 |
| 52 | regulation of inclusion body assembly (GO:0090083) | 4.42699511 |
| 53 | chromatin silencing (GO:0006342) | 4.39859951 |
| 54 | ketone body metabolic process (GO:1902224) | 4.35324330 |
| 55 | fertilization (GO:0009566) | 4.28731744 |
| 56 | nucleus organization (GO:0006997) | 4.18522438 |
| 57 | epithelial cilium movement (GO:0003351) | 4.14318130 |
| 58 | glycerol ether metabolic process (GO:0006662) | 4.05032992 |
| 59 | organic cation transport (GO:0015695) | 3.83346993 |
| 60 | multicellular organismal movement (GO:0050879) | 3.81850522 |
| 61 | musculoskeletal movement (GO:0050881) | 3.81850522 |
| 62 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.73699212 |
| 63 | ether metabolic process (GO:0018904) | 3.72669235 |
| 64 | nucleosome disassembly (GO:0006337) | 3.70406625 |
| 65 | protein-DNA complex disassembly (GO:0032986) | 3.70406625 |
| 66 | coenzyme catabolic process (GO:0009109) | 3.70039064 |
| 67 | microtubule nucleation (GO:0007020) | 3.69699389 |
| 68 | cilium movement (GO:0003341) | 3.63126600 |
| 69 | polyamine biosynthetic process (GO:0006596) | 3.61798185 |
| 70 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 3.50796885 |
| 71 | response to acidic pH (GO:0010447) | 3.48787537 |
| 72 | regulation of T-helper 2 cell differentiation (GO:0045628) | 3.42526077 |
| 73 | histone H3-K9 demethylation (GO:0033169) | 3.41988078 |
| 74 | regulation of somitogenesis (GO:0014807) | 3.41965520 |
| 75 | regulation of microtubule-based movement (GO:0060632) | 3.39296809 |
| 76 | glomerular visceral epithelial cell development (GO:0072015) | 3.34711175 |
| 77 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.27907708 |
| 78 | cellular response to pH (GO:0071467) | 3.25939630 |
| 79 | glomerular epithelial cell development (GO:0072310) | 3.22404476 |
| 80 | regulation of interleukin-13 production (GO:0032656) | 3.21640278 |
| 81 | homeostasis of number of cells within a tissue (GO:0048873) | 3.16996333 |
| 82 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.15331517 |
| 83 | cerebral cortex neuron differentiation (GO:0021895) | 3.14301556 |
| 84 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.10098697 |
| 85 | multicellular organismal development (GO:0007275) | 3.03142495 |
| 86 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.02655204 |
| 87 | protein depolymerization (GO:0051261) | 3.01577906 |
| 88 | receptor recycling (GO:0001881) | 3.01374008 |
| 89 | regulation of ARF GTPase activity (GO:0032312) | 2.95815431 |
| 90 | cranial nerve morphogenesis (GO:0021602) | 2.90499455 |
| 91 | cell recognition (GO:0008037) | 2.90437553 |
| 92 | DNA conformation change (GO:0071103) | 2.87768927 |
| 93 | ventricular system development (GO:0021591) | 2.84181577 |
| 94 | Golgi to endosome transport (GO:0006895) | 2.79390643 |
| 95 | male meiosis (GO:0007140) | 2.75192259 |
| 96 | intra-Golgi vesicle-mediated transport (GO:0006891) | 2.70088813 |
| 97 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.68470580 |
| 98 | acrosome reaction (GO:0007340) | 11.9969852 |
| 99 | sperm motility (GO:0030317) | 11.9903003 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 11.0446999 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 4.02002464 |
| 2 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 3.85983218 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.67903564 |
| 4 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.44695158 |
| 5 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.44695158 |
| 6 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.39112829 |
| 7 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.20614941 |
| 8 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.20614941 |
| 9 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 2.16715714 |
| 10 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.16395348 |
| 11 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.03072301 |
| 12 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.97461553 |
| 13 | ERA_21632823_ChIP-Seq_H3396_Human | 1.96354194 |
| 14 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.92351472 |
| 15 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.88840591 |
| 16 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.85637279 |
| 17 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.84924171 |
| 18 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.84818995 |
| 19 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.83914544 |
| 20 | FUS_26573619_Chip-Seq_HEK293_Human | 1.81809361 |
| 21 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.81497959 |
| 22 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.81491592 |
| 23 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.78000313 |
| 24 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.76294201 |
| 25 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.74262038 |
| 26 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.72252123 |
| 27 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.70434127 |
| 28 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.63904929 |
| 29 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.62276279 |
| 30 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.61992617 |
| 31 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.60482662 |
| 32 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.59444642 |
| 33 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.59043289 |
| 34 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.58520524 |
| 35 | P68_20966046_ChIP-Seq_HELA_Human | 1.58434633 |
| 36 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.57825465 |
| 37 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.56375665 |
| 38 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.54459888 |
| 39 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.53902191 |
| 40 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.53116193 |
| 41 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.52617481 |
| 42 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.51445400 |
| 43 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.50494005 |
| 44 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.49412226 |
| 45 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.47146996 |
| 46 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.45132629 |
| 47 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.43452382 |
| 48 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.40410962 |
| 49 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.39170415 |
| 50 | P300_27268052_Chip-Seq_Bcells_Human | 1.39077823 |
| 51 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.38666962 |
| 52 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.38230086 |
| 53 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.36757546 |
| 54 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.34053908 |
| 55 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.33649935 |
| 56 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.32302288 |
| 57 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.31676513 |
| 58 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.30637135 |
| 59 | AR_25329375_ChIP-Seq_VCAP_Human | 1.28967165 |
| 60 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.28850781 |
| 61 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.27467689 |
| 62 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.27135671 |
| 63 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.26764275 |
| 64 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.26653139 |
| 65 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.23298033 |
| 66 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.21804582 |
| 67 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.21656266 |
| 68 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.21018069 |
| 69 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.19280509 |
| 70 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.18355231 |
| 71 | TBL1_22424771_ChIP-Seq_293T_Human | 1.16865281 |
| 72 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.16720926 |
| 73 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.14711156 |
| 74 | NFYB_21822215_ChIP-Seq_K562_Human | 1.13771714 |
| 75 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.13396759 |
| 76 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.12943094 |
| 77 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.11596224 |
| 78 | P300_19829295_ChIP-Seq_ESCs_Human | 1.09938978 |
| 79 | VDR_24787735_ChIP-Seq_THP-1_Human | 1.09899400 |
| 80 | SA1_27219007_Chip-Seq_Bcells_Human | 1.09351602 |
| 81 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.09164211 |
| 82 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.04638936 |
| 83 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.04207055 |
| 84 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.03649762 |
| 85 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.03599330 |
| 86 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.03545201 |
| 87 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.03414485 |
| 88 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.02701213 |
| 89 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.02273682 |
| 90 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.02259927 |
| 91 | SPI1_20517297_ChIP-Seq_HL60_Human | 1.01332459 |
| 92 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.00667754 |
| 93 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.00586254 |
| 94 | GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.00132093 |
| 95 | OCT4_19829295_ChIP-Seq_ESCs_Human | 0.98102963 |
| 96 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 0.98088257 |
| 97 | GF1_26923725_Chip-Seq_HPCs_Mouse | 0.97604522 |
| 98 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 0.97381788 |
| 99 | KLF5_25053715_ChIP-Seq_YYC3_Human | 0.96322213 |
| 100 | KLF4_19829295_ChIP-Seq_ESCs_Human | 0.95809037 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005377_hearing/vestibular/ear_phenot | 5.38158163 |
| 2 | MP0003878_abnormal_ear_physiology | 5.38158163 |
| 3 | MP0005670_abnormal_white_adipose | 4.56204100 |
| 4 | MP0003698_abnormal_male_reproductive | 4.50125802 |
| 5 | MP0001929_abnormal_gametogenesis | 3.89792040 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.33312373 |
| 7 | MP0000678_abnormal_parathyroid_gland | 2.60957801 |
| 8 | MP0002161_abnormal_fertility/fecundity | 2.49766242 |
| 9 | MP0002132_abnormal_respiratory_system | 2.27600725 |
| 10 | MP0003718_maternal_effect | 2.11142465 |
| 11 | MP0005410_abnormal_fertilization | 12.6853216 |
| 12 | MP0003646_muscle_fatigue | 1.83505668 |
| 13 | MP0005451_abnormal_body_composition | 1.79720681 |
| 14 | MP0002210_abnormal_sex_determination | 1.65453750 |
| 15 | MP0005310_abnormal_salivary_gland | 1.61987370 |
| 16 | MP0005379_endocrine/exocrine_gland_phen | 1.60122746 |
| 17 | MP0002249_abnormal_larynx_morphology | 1.50709957 |
| 18 | MP0001485_abnormal_pinna_reflex | 1.50266628 |
| 19 | MP0003011_delayed_dark_adaptation | 1.49947047 |
| 20 | MP0005423_abnormal_somatic_nervous | 1.46956508 |
| 21 | MP0004510_myositis | 1.44699071 |
| 22 | MP0001486_abnormal_startle_reflex | 1.41793758 |
| 23 | MP0001145_abnormal_male_reproductive | 1.40021915 |
| 24 | MP0000653_abnormal_sex_gland | 1.31523879 |
| 25 | MP0002234_abnormal_pharynx_morphology | 1.31150159 |
| 26 | MP0002138_abnormal_hepatobiliary_system | 1.28729485 |
| 27 | MP0002822_catalepsy | 1.27328049 |
| 28 | MP0003879_abnormal_hair_cell | 1.27028656 |
| 29 | MP0004742_abnormal_vestibular_system | 1.22459987 |
| 30 | MP0002282_abnormal_trachea_morphology | 1.22072197 |
| 31 | MP0004859_abnormal_synaptic_plasticity | 1.21236709 |
| 32 | MP0005248_abnormal_Harderian_gland | 1.18880834 |
| 33 | MP0001765_abnormal_ion_homeostasis | 1.16291719 |
| 34 | MP0002127_abnormal_cardiovascular_syste | 1.09854285 |
| 35 | MP0009053_abnormal_anal_canal | 1.04894915 |
| 36 | MP0001963_abnormal_hearing_physiology | 1.03993619 |
| 37 | MP0000534_abnormal_ureter_morphology | 1.01946123 |
| 38 | MP0005395_other_phenotype | 1.00665597 |
| 39 | MP0002735_abnormal_chemical_nociception | 0.96459574 |
| 40 | MP0008877_abnormal_DNA_methylation | 0.94255146 |
| 41 | MP0001968_abnormal_touch/_nociception | 0.94025770 |
| 42 | MP0000026_abnormal_inner_ear | 0.88414849 |
| 43 | MP0000681_abnormal_thyroid_gland | 0.88093038 |
| 44 | MP0009115_abnormal_fat_cell | 0.86012879 |
| 45 | MP0005666_abnormal_adipose_tissue | 0.81664691 |
| 46 | MP0002229_neurodegeneration | 0.81318448 |
| 47 | MP0005167_abnormal_blood-brain_barrier | 0.81313224 |
| 48 | MP0005375_adipose_tissue_phenotype | 0.73404230 |
| 49 | MP0000955_abnormal_spinal_cord | 0.73131683 |
| 50 | MP0009697_abnormal_copulation | 0.72175323 |
| 51 | MP0008569_lethality_at_weaning | 0.68641876 |
| 52 | MP0001905_abnormal_dopamine_level | 0.67450180 |
| 53 | MP0004484_altered_response_of | 0.65895401 |
| 54 | MP0005083_abnormal_biliary_tract | 0.65830502 |
| 55 | MP0002067_abnormal_sensory_capabilities | 0.63592853 |
| 56 | MP0000003_abnormal_adipose_tissue | 0.62793397 |
| 57 | MP0009278_abnormal_bone_marrow | 0.62424346 |
| 58 | MP0008995_early_reproductive_senescence | 0.60559781 |
| 59 | MP0005636_abnormal_mineral_homeostasis | 0.60452406 |
| 60 | MP0005551_abnormal_eye_electrophysiolog | 0.59755771 |
| 61 | MP0004085_abnormal_heartbeat | 0.58871830 |
| 62 | MP0005397_hematopoietic_system_phenotyp | 0.56827404 |
| 63 | MP0001545_abnormal_hematopoietic_system | 0.56827404 |
| 64 | MP0001666_abnormal_nutrient_absorption | 0.56437899 |
| 65 | MP0005367_renal/urinary_system_phenotyp | 0.55228792 |
| 66 | MP0000516_abnormal_urinary_system | 0.55228792 |
| 67 | MP0001879_abnormal_lymphatic_vessel | 0.53877940 |
| 68 | MP0002733_abnormal_thermal_nociception | 0.53532418 |
| 69 | MP0002557_abnormal_social/conspecific_i | 0.53078333 |
| 70 | MP0004233_abnormal_muscle_weight | 0.52331555 |
| 71 | MP0000049_abnormal_middle_ear | 0.50461821 |
| 72 | MP0000249_abnormal_blood_vessel | 0.50393768 |
| 73 | MP0005253_abnormal_eye_physiology | 0.50004978 |
| 74 | MP0003172_abnormal_lysosome_physiology | 0.48898358 |
| 75 | MP0005535_abnormal_body_temperature | 0.48878794 |
| 76 | MP0001984_abnormal_olfaction | 0.48799474 |
| 77 | MP0002653_abnormal_ependyma_morphology | 0.46754571 |
| 78 | MP0005647_abnormal_sex_gland | 0.46507535 |
| 79 | MP0003631_nervous_system_phenotype | 0.44756499 |
| 80 | MP0003077_abnormal_cell_cycle | 0.43235881 |
| 81 | MP0002572_abnormal_emotion/affect_behav | 0.42868529 |
| 82 | MP0000470_abnormal_stomach_morphology | 0.42759548 |
| 83 | MP0005166_decreased_susceptibility_to | 0.40435077 |
| 84 | MP0001501_abnormal_sleep_pattern | 0.38711142 |
| 85 | MP0008004_abnormal_stomach_pH | 0.38563728 |
| 86 | MP0001270_distended_abdomen | 0.37814097 |
| 87 | MP0000230_abnormal_systemic_arterial | 0.37627911 |
| 88 | MP0009764_decreased_sensitivity_to | 0.37594802 |
| 89 | MP0003699_abnormal_female_reproductive | 0.37523490 |
| 90 | MP0003632_abnormal_nervous_system | 0.37093608 |
| 91 | MP0002272_abnormal_nervous_system | 0.36622527 |
| 92 | MP0001440_abnormal_grooming_behavior | 0.36340420 |
| 93 | MP0008961_abnormal_basal_metabolism | 0.36264431 |
| 94 | MP0003137_abnormal_impulse_conducting | 0.35714893 |
| 95 | MP0000613_abnormal_salivary_gland | 0.35145721 |
| 96 | MP0001970_abnormal_pain_threshold | 0.35034162 |
| 97 | MP0001873_stomach_inflammation | 0.34939863 |
| 98 | MP0004036_abnormal_muscle_relaxation | 0.34393161 |
| 99 | MP0008874_decreased_physiological_sensi | 0.34366344 |
| 100 | MP0003936_abnormal_reproductive_system | 0.34116679 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 7.88765940 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.28941880 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 6.28941880 |
| 4 | Asymmetric septal hypertrophy (HP:0001670) | 5.80163965 |
| 5 | Resting tremor (HP:0002322) | 5.25398946 |
| 6 | Tubulointerstitial nephritis (HP:0001970) | 5.20897942 |
| 7 | Attenuation of retinal blood vessels (HP:0007843) | 4.88029806 |
| 8 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.87920821 |
| 9 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.83345664 |
| 10 | Abnormal ciliary motility (HP:0012262) | 4.79778540 |
| 11 | Chronic hepatic failure (HP:0100626) | 4.69827873 |
| 12 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.69662016 |
| 13 | Nasal polyposis (HP:0100582) | 4.51690701 |
| 14 | Infertility (HP:0000789) | 4.42628142 |
| 15 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.40309571 |
| 16 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.40309571 |
| 17 | Male infertility (HP:0003251) | 4.38146747 |
| 18 | Hyperkalemia (HP:0002153) | 4.27314009 |
| 19 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.14154216 |
| 20 | Abnormality of macular pigmentation (HP:0008002) | 4.04930476 |
| 21 | Bell-shaped thorax (HP:0001591) | 3.97519285 |
| 22 | Cone-rod dystrophy (HP:0000548) | 3.93941188 |
| 23 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.91635206 |
| 24 | Abnormality of the nasal mucosa (HP:0000433) | 3.73097402 |
| 25 | Hypoplastic ischia (HP:0003175) | 3.70739154 |
| 26 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.69432728 |
| 27 | Hypoplasia of the thymus (HP:0000778) | 3.68917782 |
| 28 | Potter facies (HP:0002009) | 3.68607498 |
| 29 | Facial shape deformation (HP:0011334) | 3.68607498 |
| 30 | Enlarged epiphyses (HP:0010580) | 3.57529311 |
| 31 | Impulsivity (HP:0100710) | 3.44548336 |
| 32 | Postural instability (HP:0002172) | 3.42047190 |
| 33 | Abnormality of the ischium (HP:0003174) | 3.28578974 |
| 34 | Menstrual irregularities (HP:0000858) | 3.27832816 |
| 35 | Abnormal spermatogenesis (HP:0008669) | 3.18525184 |
| 36 | Progressive sensorineural hearing impairment (HP:0000408) | 3.16689477 |
| 37 | Hypoalphalipoproteinemia (HP:0003233) | 3.03409513 |
| 38 | Azoospermia (HP:0000027) | 3.02055026 |
| 39 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.94108141 |
| 40 | Amelogenesis imperfecta (HP:0000705) | 2.85849299 |
| 41 | Abnormality of dental color (HP:0011073) | 2.81444865 |
| 42 | Truncal obesity (HP:0001956) | 2.74969997 |
| 43 | Abnormality of the costochondral junction (HP:0000919) | 2.72817004 |
| 44 | Abnormality of the aortic arch (HP:0012303) | 2.68543196 |
| 45 | Abnormal urine output (HP:0012590) | 2.66548130 |
| 46 | Rhinitis (HP:0012384) | 2.61672599 |
| 47 | Unilateral renal agenesis (HP:0000122) | 2.60696166 |
| 48 | Progressive cerebellar ataxia (HP:0002073) | 2.60491094 |
| 49 | Portal hypertension (HP:0001409) | 2.57736760 |
| 50 | Renovascular hypertension (HP:0100817) | 2.56837931 |
| 51 | Stage 5 chronic kidney disease (HP:0003774) | 2.56406871 |
| 52 | Double outlet right ventricle (HP:0001719) | 2.50273376 |
| 53 | Congenital malformation of the right heart (HP:0011723) | 2.50273376 |
| 54 | Generalized aminoaciduria (HP:0002909) | 2.49894332 |
| 55 | Abnormality of potassium homeostasis (HP:0011042) | 2.43901727 |
| 56 | Nephronophthisis (HP:0000090) | 2.43453118 |
| 57 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.37085421 |
| 58 | Abnormality of the hepatic vasculature (HP:0006707) | 2.36666211 |
| 59 | Renal dysplasia (HP:0000110) | 2.36074277 |
| 60 | Tubulointerstitial abnormality (HP:0001969) | 2.34837826 |
| 61 | Polydipsia (HP:0001959) | 2.33108506 |
| 62 | Abnormal drinking behavior (HP:0030082) | 2.33108506 |
| 63 | Abnormality of renal excretion (HP:0011036) | 2.26569465 |
| 64 | Ventricular tachycardia (HP:0004756) | 2.25785039 |
| 65 | Hypophosphatemic rickets (HP:0004912) | 2.13834841 |
| 66 | Flattened epiphyses (HP:0003071) | 2.13628260 |
| 67 | Progressive hearing impairment (HP:0001730) | 2.10822102 |
| 68 | Bronchiectasis (HP:0002110) | 2.09684200 |
| 69 | Polyuria (HP:0000103) | 2.09444814 |
| 70 | Epiphyseal dysplasia (HP:0002656) | 2.09433862 |
| 71 | Widely patent fontanelles and sutures (HP:0004492) | 2.08822755 |
| 72 | Osteomalacia (HP:0002749) | 2.07396587 |
| 73 | Recurrent pneumonia (HP:0006532) | 2.06846841 |
| 74 | Abnormality of the renal medulla (HP:0100957) | 2.04016847 |
| 75 | Chronic bronchitis (HP:0004469) | 2.00766026 |
| 76 | Abnormality of the pubic bones (HP:0003172) | 1.95862131 |
| 77 | Hyponatremia (HP:0002902) | 1.93793654 |
| 78 | Tetany (HP:0001281) | 1.92314742 |
| 79 | Intellectual disability, moderate (HP:0002342) | 1.91522609 |
| 80 | Abnormality of the parathyroid morphology (HP:0011766) | 1.91456366 |
| 81 | Renal Fanconi syndrome (HP:0001994) | 1.87632649 |
| 82 | Focal segmental glomerulosclerosis (HP:0000097) | 1.83211495 |
| 83 | Recurrent corneal erosions (HP:0000495) | 1.82027478 |
| 84 | Hyperuricemia (HP:0002149) | 1.81993698 |
| 85 | Increased purine levels (HP:0004368) | 1.81993698 |
| 86 | Abnormal ventriculo-arterial connection (HP:0011563) | 1.79496428 |
| 87 | Transposition of the great arteries (HP:0001669) | 1.79496428 |
| 88 | Abnormal connection of the cardiac segments (HP:0011545) | 1.79496428 |
| 89 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.78316070 |
| 90 | Decreased central vision (HP:0007663) | 1.77679433 |
| 91 | Bradycardia (HP:0001662) | 1.76219471 |
| 92 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.73678284 |
| 93 | Absent epiphyses (HP:0010577) | 1.73678284 |
| 94 | Spastic paraparesis (HP:0002313) | 1.71993678 |
| 95 | Photophobia (HP:0000613) | 1.71333064 |
| 96 | Bowel incontinence (HP:0002607) | 1.67567365 |
| 97 | Congenital sensorineural hearing impairment (HP:0008527) | 1.67057128 |
| 98 | Subcapsular cataract (HP:0000523) | 1.66263221 |
| 99 | Hyperthyroidism (HP:0000836) | 1.65274924 |
| 100 | Gingivitis (HP:0000230) | 1.64964638 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 8.76402656 |
| 2 | TESK1 | 5.87033560 |
| 3 | DDR2 | 4.44238792 |
| 4 | INSRR | 3.84078293 |
| 5 | BRD4 | 3.47195533 |
| 6 | MAP4K2 | 3.38222716 |
| 7 | PLK2 | 3.15078638 |
| 8 | STK38 | 3.10825546 |
| 9 | PNCK | 2.64888079 |
| 10 | MAPK15 | 2.35564516 |
| 11 | CAMK1G | 2.30016774 |
| 12 | PRKD3 | 2.11752245 |
| 13 | STK38L | 1.95875897 |
| 14 | PIK3CG | 1.85455549 |
| 15 | PDPK1 | 1.70018318 |
| 16 | CDK12 | 1.67819902 |
| 17 | WNK1 | 1.65394383 |
| 18 | PDK1 | 1.63531992 |
| 19 | MST1R | 1.61219084 |
| 20 | PINK1 | 1.46728247 |
| 21 | DYRK1B | 1.26013601 |
| 22 | PTK2B | 1.23213215 |
| 23 | CDK7 | 1.21436360 |
| 24 | NEK6 | 1.20479147 |
| 25 | KSR2 | 1.08619411 |
| 26 | TYRO3 | 0.92728779 |
| 27 | CAMK1D | 0.92248450 |
| 28 | MAP3K11 | 0.87341882 |
| 29 | SIK2 | 0.85018811 |
| 30 | AKT3 | 0.80728660 |
| 31 | MAP3K9 | 0.78646331 |
| 32 | RPS6KA2 | 0.77154066 |
| 33 | PRKG2 | 0.76793139 |
| 34 | LATS2 | 0.74134267 |
| 35 | MAP3K2 | 0.65079051 |
| 36 | PRKG1 | 0.63170087 |
| 37 | MAP3K1 | 0.62285962 |
| 38 | BRAF | 0.61870193 |
| 39 | RPS6KA1 | 0.61231486 |
| 40 | SGK223 | 0.60792244 |
| 41 | SGK494 | 0.60792244 |
| 42 | UHMK1 | 0.58420558 |
| 43 | LATS1 | 0.58010558 |
| 44 | PRKAA2 | 0.57477106 |
| 45 | CDK3 | 0.56868292 |
| 46 | MARK3 | 0.53281633 |
| 47 | MAP2K2 | 0.51948816 |
| 48 | CAMK1 | 0.51064211 |
| 49 | RPS6KC1 | 0.49537013 |
| 50 | RPS6KL1 | 0.49537013 |
| 51 | RIPK4 | 0.49095661 |
| 52 | MAP3K8 | 0.44699871 |
| 53 | MAPK1 | 0.44367445 |
| 54 | WNK4 | 0.44032655 |
| 55 | TESK2 | 0.43216994 |
| 56 | RPS6KA6 | 0.42805659 |
| 57 | ROCK1 | 0.42254601 |
| 58 | GSK3B | 0.41562872 |
| 59 | BLK | 0.41198083 |
| 60 | CDK2 | 0.41048557 |
| 61 | ARAF | 0.38123938 |
| 62 | MAPK11 | 0.37727490 |
| 63 | CAMK4 | 0.36925099 |
| 64 | MTOR | 0.36851547 |
| 65 | JAK3 | 0.35502789 |
| 66 | CDK4 | 0.34924590 |
| 67 | CDK1 | 0.34769503 |
| 68 | MAPK8 | 0.32668147 |
| 69 | MARK2 | 0.31556264 |
| 70 | STK39 | 0.31451282 |
| 71 | GRK6 | 0.29812057 |
| 72 | SGK1 | 0.29066796 |
| 73 | SGK2 | 0.28502194 |
| 74 | NEK2 | 0.28426989 |
| 75 | KIT | 0.28124205 |
| 76 | PRKCZ | 0.25551075 |
| 77 | DYRK3 | 0.24932907 |
| 78 | BMPR1B | 0.24612421 |
| 79 | CHEK1 | 0.22330201 |
| 80 | PRKCG | 0.21922233 |
| 81 | MAPK14 | 0.21022981 |
| 82 | TIE1 | 0.20910183 |
| 83 | MAPK10 | 0.20773136 |
| 84 | PRKCB | 0.20084332 |
| 85 | MUSK | 0.19139422 |
| 86 | MAP3K13 | 0.16854378 |
| 87 | AKT1 | 0.16799989 |
| 88 | TNK2 | 0.16699091 |
| 89 | NTRK3 | 0.15854634 |
| 90 | SGK3 | 0.14012628 |
| 91 | IKBKB | 0.09927819 |
| 92 | OXSR1 | 0.09577407 |
| 93 | PRKCQ | 0.09488988 |
| 94 | PRKCH | 0.07745968 |
| 95 | TNIK | 0.07613270 |
| 96 | FRK | 0.06641842 |
| 97 | MAP3K7 | 0.05894655 |
| 98 | PKN1 | 0.05786917 |
| 99 | PRKACB | 0.05678340 |
| 100 | MARK1 | 0.05423303 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 6.79085076 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 6.12501179 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.83007666 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.33651695 |
| 5 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.12936258 |
| 6 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 2.00201386 |
| 7 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.94796695 |
| 8 | Allograft rejection_Homo sapiens_hsa05330 | 1.89703270 |
| 9 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.86467727 |
| 10 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.84210100 |
| 11 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.77633160 |
| 12 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.68642850 |
| 13 | Taste transduction_Homo sapiens_hsa04742 | 1.64282679 |
| 14 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.63558052 |
| 15 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.63268604 |
| 16 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.62178984 |
| 17 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.50015813 |
| 18 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.48052028 |
| 19 | RNA transport_Homo sapiens_hsa03013 | 1.39514904 |
| 20 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.29915213 |
| 21 | Viral myocarditis_Homo sapiens_hsa05416 | 1.29164902 |
| 22 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.26433856 |
| 23 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.26014968 |
| 24 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.21705332 |
| 25 | Endocytosis_Homo sapiens_hsa04144 | 1.15423571 |
| 26 | Influenza A_Homo sapiens_hsa05164 | 1.12242045 |
| 27 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.10508516 |
| 28 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.02031523 |
| 29 | Salivary secretion_Homo sapiens_hsa04970 | 0.95607546 |
| 30 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.94559186 |
| 31 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.94337028 |
| 32 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.94213099 |
| 33 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.92499333 |
| 34 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.90677286 |
| 35 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.90636699 |
| 36 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.87305587 |
| 37 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.84673097 |
| 38 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.82712514 |
| 39 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.81357043 |
| 40 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.79175836 |
| 41 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.78250686 |
| 42 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.78195260 |
| 43 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.72877139 |
| 44 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.71542458 |
| 45 | Morphine addiction_Homo sapiens_hsa05032 | 0.70885435 |
| 46 | ABC transporters_Homo sapiens_hsa02010 | 0.70787209 |
| 47 | Phototransduction_Homo sapiens_hsa04744 | 0.70652898 |
| 48 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.70610856 |
| 49 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.70353330 |
| 50 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.68991877 |
| 51 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.67349031 |
| 52 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.64988484 |
| 53 | Renin secretion_Homo sapiens_hsa04924 | 0.59572186 |
| 54 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.58657025 |
| 55 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.58005899 |
| 56 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.57173894 |
| 57 | Circadian entrainment_Homo sapiens_hsa04713 | 0.56443440 |
| 58 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.56244097 |
| 59 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.55740136 |
| 60 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.55341838 |
| 61 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.53685082 |
| 62 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.53097359 |
| 63 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.52745638 |
| 64 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.47429620 |
| 65 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.47408001 |
| 66 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.46674520 |
| 67 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.46463562 |
| 68 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.46298392 |
| 69 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.46292953 |
| 70 | Long-term potentiation_Homo sapiens_hsa04720 | 0.44420505 |
| 71 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.42752852 |
| 72 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.41793318 |
| 73 | Nicotine addiction_Homo sapiens_hsa05033 | 0.41727618 |
| 74 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.41613721 |
| 75 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.40716399 |
| 76 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.40378148 |
| 77 | Retinol metabolism_Homo sapiens_hsa00830 | 0.39707910 |
| 78 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.39538998 |
| 79 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.38965994 |
| 80 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.36250118 |
| 81 | Gap junction_Homo sapiens_hsa04540 | 0.36176092 |
| 82 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.35913698 |
| 83 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.35316733 |
| 84 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.35299882 |
| 85 | Bile secretion_Homo sapiens_hsa04976 | 0.34603416 |
| 86 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.33740809 |
| 87 | Purine metabolism_Homo sapiens_hsa00230 | 0.33257107 |
| 88 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.31481299 |
| 89 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.31218187 |
| 90 | Insulin secretion_Homo sapiens_hsa04911 | 0.30723847 |
| 91 | Basal transcription factors_Homo sapiens_hsa03022 | 0.30587531 |
| 92 | Legionellosis_Homo sapiens_hsa05134 | 0.30001502 |
| 93 | T cell receptor signaling pathway_Homo sapiens_hsa04660 | 0.28851366 |
| 94 | Prostate cancer_Homo sapiens_hsa05215 | 0.28430308 |
| 95 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.28038197 |
| 96 | Phagosome_Homo sapiens_hsa04145 | 0.27779552 |
| 97 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.26113948 |
| 98 | Chemokine signaling pathway_Homo sapiens_hsa04062 | 0.24782816 |
| 99 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.24446361 |
| 100 | Osteoclast differentiation_Homo sapiens_hsa04380 | 0.23788770 |

