

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm capacitation (GO:0048240) | 9.29945004 |
| 2 | chromosome condensation (GO:0030261) | 8.67524772 |
| 3 | DNA packaging (GO:0006323) | 8.47554437 |
| 4 | plasma membrane fusion (GO:0045026) | 8.36032989 |
| 5 | single strand break repair (GO:0000012) | 8.33822650 |
| 6 | spermatid nucleus differentiation (GO:0007289) | 8.01636102 |
| 7 | spermatid development (GO:0007286) | 7.98343758 |
| 8 | microtubule depolymerization (GO:0007019) | 7.73621154 |
| 9 | sperm-egg recognition (GO:0035036) | 7.36259193 |
| 10 | multicellular organism reproduction (GO:0032504) | 7.20863231 |
| 11 | reproduction (GO:0000003) | 6.76523291 |
| 12 | calcium ion-dependent exocytosis (GO:0017156) | 6.62705530 |
| 13 | binding of sperm to zona pellucida (GO:0007339) | 6.52565417 |
| 14 | protein polyglutamylation (GO:0018095) | 6.52126660 |
| 15 | sexual reproduction (GO:0019953) | 6.49421544 |
| 16 | rRNA methylation (GO:0031167) | 6.42653309 |
| 17 | microtubule polymerization or depolymerization (GO:0031109) | 6.37586245 |
| 18 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.25833475 |
| 19 | axonemal dynein complex assembly (GO:0070286) | 6.15244919 |
| 20 | negative regulation of inclusion body assembly (GO:0090084) | 6.11623224 |
| 21 | cellular ketone body metabolic process (GO:0046950) | 6.10677800 |
| 22 | cell-cell recognition (GO:0009988) | 6.08177275 |
| 23 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.79958956 |
| 24 | protein targeting to Golgi (GO:0000042) | 5.79609478 |
| 25 | spermatogenesis (GO:0007283) | 5.77446571 |
| 26 | male gamete generation (GO:0048232) | 5.75675093 |
| 27 | establishment of protein localization to Golgi (GO:0072600) | 5.70212945 |
| 28 | microtubule severing (GO:0051013) | 5.54793759 |
| 29 | regulation of Rab GTPase activity (GO:0032313) | 5.49606839 |
| 30 | positive regulation of Rab GTPase activity (GO:0032851) | 5.49606839 |
| 31 | centriole replication (GO:0007099) | 5.47927259 |
| 32 | rRNA modification (GO:0000154) | 5.43737213 |
| 33 | ketone body metabolic process (GO:1902224) | 5.40399396 |
| 34 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.36332835 |
| 35 | regulation of cilium movement (GO:0003352) | 5.34373101 |
| 36 | gamete generation (GO:0007276) | 5.25494882 |
| 37 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.96424235 |
| 38 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 4.94448727 |
| 39 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.93638539 |
| 40 | single fertilization (GO:0007338) | 4.69982819 |
| 41 | chromatin silencing (GO:0006342) | 4.69196415 |
| 42 | centriole assembly (GO:0098534) | 4.62924097 |
| 43 | motile cilium assembly (GO:0044458) | 4.56823033 |
| 44 | germ cell development (GO:0007281) | 4.48221969 |
| 45 | cell wall macromolecule metabolic process (GO:0044036) | 4.42710496 |
| 46 | RNA destabilization (GO:0050779) | 4.41409643 |
| 47 | cell wall macromolecule catabolic process (GO:0016998) | 4.32691258 |
| 48 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.29265761 |
| 49 | regulation of inclusion body assembly (GO:0090083) | 4.29223866 |
| 50 | protein localization to Golgi apparatus (GO:0034067) | 4.23869515 |
| 51 | regulation of centriole replication (GO:0046599) | 4.23348634 |
| 52 | multicellular organismal reproductive process (GO:0048609) | 4.18708814 |
| 53 | coenzyme catabolic process (GO:0009109) | 4.11919462 |
| 54 | epithelial cilium movement (GO:0003351) | 4.10815215 |
| 55 | organic cation transport (GO:0015695) | 3.99707386 |
| 56 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.86691450 |
| 57 | fertilization (GO:0009566) | 3.84472849 |
| 58 | multicellular organismal movement (GO:0050879) | 3.78916892 |
| 59 | musculoskeletal movement (GO:0050881) | 3.78916892 |
| 60 | nucleus organization (GO:0006997) | 3.71972575 |
| 61 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.70812222 |
| 62 | cilium movement (GO:0003341) | 3.64972286 |
| 63 | regulation of microtubule-based movement (GO:0060632) | 3.62776421 |
| 64 | seminiferous tubule development (GO:0072520) | 3.52737388 |
| 65 | response to acidic pH (GO:0010447) | 3.42610585 |
| 66 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.39580970 |
| 67 | NAD biosynthetic process (GO:0009435) | 3.34635681 |
| 68 | glycerol ether metabolic process (GO:0006662) | 3.32450541 |
| 69 | cerebral cortex neuron differentiation (GO:0021895) | 3.31077136 |
| 70 | cellular response to pH (GO:0071467) | 3.26525957 |
| 71 | polyamine biosynthetic process (GO:0006596) | 3.22917183 |
| 72 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.18168510 |
| 73 | Golgi to endosome transport (GO:0006895) | 3.12094216 |
| 74 | ether metabolic process (GO:0018904) | 3.07034362 |
| 75 | regulation of interleukin-13 production (GO:0032656) | 3.01625399 |
| 76 | cell recognition (GO:0008037) | 2.99205808 |
| 77 | nucleosome disassembly (GO:0006337) | 2.97504385 |
| 78 | protein-DNA complex disassembly (GO:0032986) | 2.97504385 |
| 79 | cranial nerve morphogenesis (GO:0021602) | 2.96409772 |
| 80 | multicellular organismal development (GO:0007275) | 2.94636449 |
| 81 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 2.94231972 |
| 82 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 2.94231972 |
| 83 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 2.92581775 |
| 84 | homeostasis of number of cells within a tissue (GO:0048873) | 2.86915577 |
| 85 | cell differentiation involved in metanephros development (GO:0072202) | 2.84286884 |
| 86 | male meiosis I (GO:0007141) | 2.82323421 |
| 87 | alanine transport (GO:0032328) | 2.82299675 |
| 88 | regulation of T-helper 2 cell differentiation (GO:0045628) | 2.81433411 |
| 89 | negative regulation of mesenchymal cell apoptotic process (GO:2001054) | 2.81188763 |
| 90 | positive regulation of guanylate cyclase activity (GO:0031284) | 2.76485477 |
| 91 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.76258108 |
| 92 | spinal cord motor neuron differentiation (GO:0021522) | 2.76171913 |
| 93 | histone H3-K9 demethylation (GO:0033169) | 2.75451110 |
| 94 | microtubule nucleation (GO:0007020) | 2.75002639 |
| 95 | protein depolymerization (GO:0051261) | 2.74528093 |
| 96 | positive regulation of endothelial cell differentiation (GO:0045603) | 2.74144012 |
| 97 | acrosome reaction (GO:0007340) | 11.9587610 |
| 98 | sperm motility (GO:0030317) | 11.4674415 |
| 99 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.9848241 |
| 100 | response to pheromone (GO:0019236) | 10.0219786 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 3.97416059 |
| 2 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.99441548 |
| 3 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.73721076 |
| 4 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 2.49970502 |
| 5 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.44827618 |
| 6 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.39797029 |
| 7 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.39797029 |
| 8 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.20093576 |
| 9 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.19282987 |
| 10 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.19282987 |
| 11 | DROSHA_22980978_ChIP-Seq_HELA_Human | 2.04805493 |
| 12 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.97501968 |
| 13 | ERA_21632823_ChIP-Seq_H3396_Human | 1.94179303 |
| 14 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.89992862 |
| 15 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.89954584 |
| 16 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.87279150 |
| 17 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.86781241 |
| 18 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.84772773 |
| 19 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.82843161 |
| 20 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.82673249 |
| 21 | FUS_26573619_Chip-Seq_HEK293_Human | 1.82009614 |
| 22 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.80861713 |
| 23 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.76117041 |
| 24 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.74576139 |
| 25 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.74092188 |
| 26 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.73076432 |
| 27 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.65093552 |
| 28 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.60428636 |
| 29 | AR_25329375_ChIP-Seq_VCAP_Human | 1.58112056 |
| 30 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.57946896 |
| 31 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.56996076 |
| 32 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.56094642 |
| 33 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.55949936 |
| 34 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.55219509 |
| 35 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.54657137 |
| 36 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.54495222 |
| 37 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.53646016 |
| 38 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.53076789 |
| 39 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.52644933 |
| 40 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.51554851 |
| 41 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.51198321 |
| 42 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.50538570 |
| 43 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.45478645 |
| 44 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.44334016 |
| 45 | P300_19829295_ChIP-Seq_ESCs_Human | 1.43342401 |
| 46 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.41938198 |
| 47 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.41052207 |
| 48 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.40926253 |
| 49 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.39192401 |
| 50 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.38645108 |
| 51 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.37373874 |
| 52 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.34683549 |
| 53 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.34008410 |
| 54 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.33742042 |
| 55 | P300_27268052_Chip-Seq_Bcells_Human | 1.33014122 |
| 56 | VDR_22108803_ChIP-Seq_LS180_Human | 1.32693374 |
| 57 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.31555528 |
| 58 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.31459891 |
| 59 | P68_20966046_ChIP-Seq_HELA_Human | 1.29727531 |
| 60 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.29576573 |
| 61 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.28713416 |
| 62 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.26620436 |
| 63 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.26332012 |
| 64 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.26034413 |
| 65 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.25984022 |
| 66 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.25828825 |
| 67 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.24987302 |
| 68 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.24903419 |
| 69 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.23990146 |
| 70 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.23184961 |
| 71 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.23081087 |
| 72 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.21283212 |
| 73 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.19706836 |
| 74 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.19706836 |
| 75 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.19254568 |
| 76 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.19041534 |
| 77 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.18441420 |
| 78 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.18190887 |
| 79 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.17875424 |
| 80 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.17621669 |
| 81 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.17545996 |
| 82 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.15966013 |
| 83 | NFYB_21822215_ChIP-Seq_K562_Human | 1.14136082 |
| 84 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.13600044 |
| 85 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.13242486 |
| 86 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.12993416 |
| 87 | TBL1_22424771_ChIP-Seq_293T_Human | 1.12875565 |
| 88 | STAT3_23295773_ChIP-Seq_U87_Human | 1.11403508 |
| 89 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.10810836 |
| 90 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.10519967 |
| 91 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.09457812 |
| 92 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.09392367 |
| 93 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.07626880 |
| 94 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.07437375 |
| 95 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.05747696 |
| 96 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.04436243 |
| 97 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.01166742 |
| 98 | NFYA_21822215_ChIP-Seq_K562_Human | 1.01163269 |
| 99 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.01128667 |
| 100 | FOXH1_21741376_ChIP-Seq_ESCs_Human | 1.00787904 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003878_abnormal_ear_physiology | 4.93547238 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 4.93547238 |
| 3 | MP0005670_abnormal_white_adipose | 4.53077832 |
| 4 | MP0003698_abnormal_male_reproductive | 4.30591148 |
| 5 | MP0001929_abnormal_gametogenesis | 3.70182069 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.52716039 |
| 7 | MP0000678_abnormal_parathyroid_gland | 2.39474255 |
| 8 | MP0002161_abnormal_fertility/fecundity | 2.35824448 |
| 9 | MP0003646_muscle_fatigue | 2.30645437 |
| 10 | MP0003718_maternal_effect | 2.18961002 |
| 11 | MP0003011_delayed_dark_adaptation | 2.08706751 |
| 12 | MP0005379_endocrine/exocrine_gland_phen | 2.00944794 |
| 13 | MP0005410_abnormal_fertilization | 11.7742929 |
| 14 | MP0002132_abnormal_respiratory_system | 1.90709644 |
| 15 | MP0002822_catalepsy | 1.87740250 |
| 16 | MP0002234_abnormal_pharynx_morphology | 1.81811748 |
| 17 | MP0002210_abnormal_sex_determination | 1.68866670 |
| 18 | MP0005423_abnormal_somatic_nervous | 1.65295963 |
| 19 | MP0001486_abnormal_startle_reflex | 1.63982177 |
| 20 | MP0001485_abnormal_pinna_reflex | 1.63061636 |
| 21 | MP0001968_abnormal_touch/_nociception | 1.57213988 |
| 22 | MP0002735_abnormal_chemical_nociception | 1.49265444 |
| 23 | MP0002249_abnormal_larynx_morphology | 1.46335106 |
| 24 | MP0009053_abnormal_anal_canal | 1.41051750 |
| 25 | MP0002282_abnormal_trachea_morphology | 1.37511227 |
| 26 | MP0001145_abnormal_male_reproductive | 1.36741202 |
| 27 | MP0000653_abnormal_sex_gland | 1.32991100 |
| 28 | MP0002138_abnormal_hepatobiliary_system | 1.26905379 |
| 29 | MP0004742_abnormal_vestibular_system | 1.26387184 |
| 30 | MP0005310_abnormal_salivary_gland | 1.25530038 |
| 31 | MP0001765_abnormal_ion_homeostasis | 1.23020766 |
| 32 | MP0005551_abnormal_eye_electrophysiolog | 1.16536066 |
| 33 | MP0008877_abnormal_DNA_methylation | 1.12472959 |
| 34 | MP0001963_abnormal_hearing_physiology | 1.11429277 |
| 35 | MP0000534_abnormal_ureter_morphology | 1.09573240 |
| 36 | MP0000026_abnormal_inner_ear | 1.08575436 |
| 37 | MP0004859_abnormal_synaptic_plasticity | 1.02353964 |
| 38 | MP0002733_abnormal_thermal_nociception | 1.00975814 |
| 39 | MP0002127_abnormal_cardiovascular_syste | 1.00472456 |
| 40 | MP0005395_other_phenotype | 0.99787055 |
| 41 | MP0005248_abnormal_Harderian_gland | 0.99490460 |
| 42 | MP0001905_abnormal_dopamine_level | 0.97364736 |
| 43 | MP0004510_myositis | 0.97320958 |
| 44 | MP0009745_abnormal_behavioral_response | 0.97107986 |
| 45 | MP0002229_neurodegeneration | 0.94584901 |
| 46 | MP0002067_abnormal_sensory_capabilities | 0.89732222 |
| 47 | MP0002557_abnormal_social/conspecific_i | 0.89579802 |
| 48 | MP0003879_abnormal_hair_cell | 0.83640647 |
| 49 | MP0000955_abnormal_spinal_cord | 0.83550471 |
| 50 | MP0001501_abnormal_sleep_pattern | 0.82898325 |
| 51 | MP0005253_abnormal_eye_physiology | 0.82519382 |
| 52 | MP0002572_abnormal_emotion/affect_behav | 0.81596391 |
| 53 | MP0008569_lethality_at_weaning | 0.80209954 |
| 54 | MP0004085_abnormal_heartbeat | 0.78049366 |
| 55 | MP0000049_abnormal_middle_ear | 0.77813442 |
| 56 | MP0000681_abnormal_thyroid_gland | 0.77306591 |
| 57 | MP0002272_abnormal_nervous_system | 0.77151850 |
| 58 | MP0001970_abnormal_pain_threshold | 0.77050058 |
| 59 | MP0005167_abnormal_blood-brain_barrier | 0.76918060 |
| 60 | MP0006292_abnormal_olfactory_placode | 0.74884262 |
| 61 | MP0000516_abnormal_urinary_system | 0.73071270 |
| 62 | MP0005367_renal/urinary_system_phenotyp | 0.73071270 |
| 63 | MP0003880_abnormal_central_pattern | 0.72686871 |
| 64 | MP0005636_abnormal_mineral_homeostasis | 0.68469840 |
| 65 | MP0005451_abnormal_body_composition | 0.67329389 |
| 66 | MP0001440_abnormal_grooming_behavior | 0.65752486 |
| 67 | MP0005083_abnormal_biliary_tract | 0.64479865 |
| 68 | MP0002928_abnormal_bile_duct | 0.64454049 |
| 69 | MP0009115_abnormal_fat_cell | 0.64025627 |
| 70 | MP0002734_abnormal_mechanical_nocicepti | 0.63546229 |
| 71 | MP0009046_muscle_twitch | 0.62991114 |
| 72 | MP0002653_abnormal_ependyma_morphology | 0.61733538 |
| 73 | MP0004484_altered_response_of | 0.61681388 |
| 74 | MP0003119_abnormal_digestive_system | 0.61520961 |
| 75 | MP0005535_abnormal_body_temperature | 0.56299829 |
| 76 | MP0000470_abnormal_stomach_morphology | 0.55762671 |
| 77 | MP0001666_abnormal_nutrient_absorption | 0.55315864 |
| 78 | MP0005084_abnormal_gallbladder_morpholo | 0.54587549 |
| 79 | MP0003137_abnormal_impulse_conducting | 0.54244365 |
| 80 | MP0003635_abnormal_synaptic_transmissio | 0.53979550 |
| 81 | MP0000569_abnormal_digit_pigmentation | 0.52622383 |
| 82 | MP0008995_early_reproductive_senescence | 0.52520474 |
| 83 | MP0005666_abnormal_adipose_tissue | 0.51416859 |
| 84 | MP0001879_abnormal_lymphatic_vessel | 0.51088917 |
| 85 | MP0009764_decreased_sensitivity_to | 0.48430501 |
| 86 | MP0001984_abnormal_olfaction | 0.47624618 |
| 87 | MP0002064_seizures | 0.43331556 |
| 88 | MP0000230_abnormal_systemic_arterial | 0.43315866 |
| 89 | MP0002736_abnormal_nociception_after | 0.43153515 |
| 90 | MP0005375_adipose_tissue_phenotype | 0.42188376 |
| 91 | MP0000566_synostosis | 0.41431322 |
| 92 | MP0008961_abnormal_basal_metabolism | 0.41306089 |
| 93 | MP0003699_abnormal_female_reproductive | 0.40532683 |
| 94 | MP0003936_abnormal_reproductive_system | 0.40362106 |
| 95 | MP0000613_abnormal_salivary_gland | 0.40333739 |
| 96 | MP0006276_abnormal_autonomic_nervous | 0.39532440 |
| 97 | MP0005645_abnormal_hypothalamus_physiol | 0.38959138 |
| 98 | MP0005647_abnormal_sex_gland | 0.38945378 |
| 99 | MP0003631_nervous_system_phenotype | 0.37186150 |
| 100 | MP0009697_abnormal_copulation | 0.36417699 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 8.35254907 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 5.80822864 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.80822864 |
| 4 | Attenuation of retinal blood vessels (HP:0007843) | 5.80184729 |
| 5 | Bony spicule pigmentary retinopathy (HP:0007737) | 5.49652866 |
| 6 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.76875149 |
| 7 | Abnormal ciliary motility (HP:0012262) | 4.61861106 |
| 8 | Hypoplastic ischia (HP:0003175) | 4.55367524 |
| 9 | Asymmetric septal hypertrophy (HP:0001670) | 4.55024678 |
| 10 | Bell-shaped thorax (HP:0001591) | 4.48311286 |
| 11 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.40969121 |
| 12 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.40969121 |
| 13 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.37987507 |
| 14 | Potter facies (HP:0002009) | 4.11061180 |
| 15 | Facial shape deformation (HP:0011334) | 4.11061180 |
| 16 | Hyperkalemia (HP:0002153) | 4.09756314 |
| 17 | Abnormality of macular pigmentation (HP:0008002) | 4.05084075 |
| 18 | Chronic hepatic failure (HP:0100626) | 4.00373010 |
| 19 | Abnormality of the ischium (HP:0003174) | 3.99090481 |
| 20 | Tubulointerstitial nephritis (HP:0001970) | 3.90706117 |
| 21 | Infertility (HP:0000789) | 3.86672797 |
| 22 | Enlarged epiphyses (HP:0010580) | 3.84212903 |
| 23 | Resting tremor (HP:0002322) | 3.81361019 |
| 24 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 3.69257020 |
| 25 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.68406312 |
| 26 | Nasal polyposis (HP:0100582) | 3.68256328 |
| 27 | Male infertility (HP:0003251) | 3.62560232 |
| 28 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.53838902 |
| 29 | Azoospermia (HP:0000027) | 3.43528697 |
| 30 | Nephronophthisis (HP:0000090) | 3.32201932 |
| 31 | Impulsivity (HP:0100710) | 3.31758009 |
| 32 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.30924619 |
| 33 | Abnormal spermatogenesis (HP:0008669) | 3.30582981 |
| 34 | Postural instability (HP:0002172) | 3.00745305 |
| 35 | Cone-rod dystrophy (HP:0000548) | 3.00523536 |
| 36 | Abnormal urine output (HP:0012590) | 2.98380364 |
| 37 | Progressive cerebellar ataxia (HP:0002073) | 2.96220536 |
| 38 | Abnormality of the nasal mucosa (HP:0000433) | 2.89722229 |
| 39 | Abnormality of the renal medulla (HP:0100957) | 2.83372356 |
| 40 | Hypoplasia of the thymus (HP:0000778) | 2.76563294 |
| 41 | Abnormal drinking behavior (HP:0030082) | 2.74138576 |
| 42 | Polydipsia (HP:0001959) | 2.74138576 |
| 43 | Unilateral renal agenesis (HP:0000122) | 2.72564089 |
| 44 | Congenital malformation of the right heart (HP:0011723) | 2.70305218 |
| 45 | Double outlet right ventricle (HP:0001719) | 2.70305218 |
| 46 | Generalized aminoaciduria (HP:0002909) | 2.64622080 |
| 47 | Renal dysplasia (HP:0000110) | 2.64430143 |
| 48 | Rhinitis (HP:0012384) | 2.59958073 |
| 49 | Abnormality of renal excretion (HP:0011036) | 2.56489651 |
| 50 | Abnormality of potassium homeostasis (HP:0011042) | 2.55616903 |
| 51 | Abnormality of the aortic arch (HP:0012303) | 2.54099250 |
| 52 | Polyuria (HP:0000103) | 2.52280427 |
| 53 | Decreased central vision (HP:0007663) | 2.41789714 |
| 54 | Abnormality of the pubic bones (HP:0003172) | 2.41141833 |
| 55 | Epiphyseal dysplasia (HP:0002656) | 2.37323322 |
| 56 | Stage 5 chronic kidney disease (HP:0003774) | 2.36204952 |
| 57 | Amelogenesis imperfecta (HP:0000705) | 2.32242083 |
| 58 | Abnormality of the costochondral junction (HP:0000919) | 2.28895071 |
| 59 | Absent epiphyses (HP:0010577) | 2.22040674 |
| 60 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 2.22040674 |
| 61 | Truncal obesity (HP:0001956) | 2.20666632 |
| 62 | Abnormality of the parathyroid morphology (HP:0011766) | 2.20112373 |
| 63 | Abnormality of dental color (HP:0011073) | 2.18316661 |
| 64 | Tubulointerstitial abnormality (HP:0001969) | 2.17793250 |
| 65 | Bronchiectasis (HP:0002110) | 2.12508025 |
| 66 | Portal hypertension (HP:0001409) | 2.11348575 |
| 67 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 2.08651588 |
| 68 | Congenital sensorineural hearing impairment (HP:0008527) | 2.06226183 |
| 69 | Progressive sensorineural hearing impairment (HP:0000408) | 2.05175892 |
| 70 | Optic nerve hypoplasia (HP:0000609) | 2.03440720 |
| 71 | Tetany (HP:0001281) | 2.03288694 |
| 72 | Pancreatic fibrosis (HP:0100732) | 1.98673290 |
| 73 | Tubular atrophy (HP:0000092) | 1.98007002 |
| 74 | Hypophosphatemic rickets (HP:0004912) | 1.96509696 |
| 75 | Pendular nystagmus (HP:0012043) | 1.95605875 |
| 76 | Widely patent fontanelles and sutures (HP:0004492) | 1.93522357 |
| 77 | Abnormality of the hepatic vasculature (HP:0006707) | 1.92831619 |
| 78 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 1.92457419 |
| 79 | Abnormality of femoral epiphyses (HP:0006499) | 1.92457419 |
| 80 | Hypoalphalipoproteinemia (HP:0003233) | 1.90937436 |
| 81 | Abnormality of the femoral head (HP:0003368) | 1.88462987 |
| 82 | Bulbous nose (HP:0000414) | 1.88153450 |
| 83 | Occipital encephalocele (HP:0002085) | 1.86178990 |
| 84 | Photophobia (HP:0000613) | 1.84117741 |
| 85 | Genetic anticipation (HP:0003743) | 1.83734305 |
| 86 | Cerebellar dysplasia (HP:0007033) | 1.82790105 |
| 87 | Spastic paraparesis (HP:0002313) | 1.80629939 |
| 88 | Hyponatremia (HP:0002902) | 1.80089772 |
| 89 | Chronic bronchitis (HP:0004469) | 1.79873085 |
| 90 | Pancreatic cysts (HP:0001737) | 1.79609896 |
| 91 | Renovascular hypertension (HP:0100817) | 1.78888773 |
| 92 | Insulin-resistant diabetes mellitus (HP:0000831) | 1.78340903 |
| 93 | Type II lissencephaly (HP:0007260) | 1.77518570 |
| 94 | Flattened epiphyses (HP:0003071) | 1.75714087 |
| 95 | Hypokalemia (HP:0002900) | 1.75545415 |
| 96 | Recurrent corneal erosions (HP:0000495) | 1.73121030 |
| 97 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.72702122 |
| 98 | Osteomalacia (HP:0002749) | 1.72499518 |
| 99 | Short ribs (HP:0000773) | 1.71327100 |
| 100 | Mixed hearing impairment (HP:0000410) | 1.70317862 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 7.74546843 |
| 2 | TESK1 | 5.86139188 |
| 3 | DDR2 | 5.26621257 |
| 4 | INSRR | 4.05918326 |
| 5 | MAP4K2 | 3.95917246 |
| 6 | STK38 | 3.26377643 |
| 7 | PLK2 | 2.91471031 |
| 8 | PNCK | 2.69355874 |
| 9 | STK38L | 2.59950525 |
| 10 | MAPK15 | 2.44189435 |
| 11 | CAMK1G | 2.16254982 |
| 12 | BRD4 | 2.10447484 |
| 13 | PRKD3 | 2.08130900 |
| 14 | FRK | 1.99859650 |
| 15 | WNK1 | 1.59643513 |
| 16 | MST1R | 1.55726175 |
| 17 | PIK3CG | 1.41905718 |
| 18 | PDPK1 | 1.41868093 |
| 19 | PDK1 | 1.33595404 |
| 20 | PTK2B | 1.22803541 |
| 21 | CDK7 | 1.21757541 |
| 22 | DYRK1B | 1.11969120 |
| 23 | BMPR1B | 0.98343177 |
| 24 | CAMK1D | 0.96137115 |
| 25 | WNK4 | 0.95574486 |
| 26 | ADRBK2 | 0.89101444 |
| 27 | NEK6 | 0.88676294 |
| 28 | SIK2 | 0.85370891 |
| 29 | MAP3K9 | 0.84397971 |
| 30 | STK39 | 0.83824423 |
| 31 | KSR2 | 0.79558991 |
| 32 | AKT3 | 0.79063893 |
| 33 | CDK12 | 0.76523755 |
| 34 | PRKAA2 | 0.75015941 |
| 35 | PRKG1 | 0.72919871 |
| 36 | PINK1 | 0.70976877 |
| 37 | UHMK1 | 0.68865562 |
| 38 | ZAK | 0.63802647 |
| 39 | PRKG2 | 0.62850425 |
| 40 | MUSK | 0.62796102 |
| 41 | MAP2K2 | 0.62579601 |
| 42 | RPS6KA2 | 0.62400385 |
| 43 | RPS6KA1 | 0.61316016 |
| 44 | OXSR1 | 0.60672890 |
| 45 | ACVR1B | 0.57464827 |
| 46 | NTRK3 | 0.56613118 |
| 47 | MAP3K11 | 0.55674845 |
| 48 | MAP3K2 | 0.55551246 |
| 49 | CAMK1 | 0.55006580 |
| 50 | ROCK1 | 0.54343985 |
| 51 | LATS1 | 0.52090003 |
| 52 | BRAF | 0.51225108 |
| 53 | LATS2 | 0.49059083 |
| 54 | PRKCG | 0.48888545 |
| 55 | RPS6KA6 | 0.46704815 |
| 56 | MAP3K4 | 0.45983390 |
| 57 | MARK1 | 0.43904838 |
| 58 | GSK3B | 0.43371263 |
| 59 | WNK3 | 0.43106845 |
| 60 | CDK3 | 0.42304323 |
| 61 | MAP3K8 | 0.41085036 |
| 62 | CAMK4 | 0.39695896 |
| 63 | CDK4 | 0.38576442 |
| 64 | CDK2 | 0.38412310 |
| 65 | PRKCZ | 0.37644472 |
| 66 | SGK494 | 0.37429891 |
| 67 | SGK223 | 0.37429891 |
| 68 | MAPK1 | 0.36523860 |
| 69 | RPS6KC1 | 0.36029699 |
| 70 | RPS6KL1 | 0.36029699 |
| 71 | FER | 0.35711110 |
| 72 | CDK1 | 0.35425518 |
| 73 | RIPK4 | 0.35127091 |
| 74 | PRKCE | 0.35065089 |
| 75 | MAPK8 | 0.33378048 |
| 76 | GRK1 | 0.32244404 |
| 77 | TLK1 | 0.32087774 |
| 78 | NUAK1 | 0.30531263 |
| 79 | IKBKB | 0.29237172 |
| 80 | SGK1 | 0.29165647 |
| 81 | PRKCB | 0.28061347 |
| 82 | TNIK | 0.26547968 |
| 83 | TNK2 | 0.25471999 |
| 84 | GRK7 | 0.24719454 |
| 85 | CHEK1 | 0.24267352 |
| 86 | BRSK2 | 0.23565981 |
| 87 | PKN1 | 0.23477831 |
| 88 | TYRO3 | 0.22308203 |
| 89 | MAPK11 | 0.21539426 |
| 90 | TXK | 0.21467301 |
| 91 | MAPK14 | 0.21297705 |
| 92 | TIE1 | 0.20946809 |
| 93 | AKT1 | 0.18752056 |
| 94 | PRKACA | 0.17415304 |
| 95 | CHUK | 0.17249860 |
| 96 | PRKAA1 | 0.17034063 |
| 97 | MTOR | 0.16697765 |
| 98 | CAMK2A | 0.16581175 |
| 99 | DYRK2 | 0.16250678 |
| 100 | MET | 0.15110836 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 7.84639897 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 5.16798262 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.68120609 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 3.16539525 |
| 5 | Taste transduction_Homo sapiens_hsa04742 | 1.99601656 |
| 6 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.96318466 |
| 7 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.89113655 |
| 8 | Phototransduction_Homo sapiens_hsa04744 | 1.84823453 |
| 9 | Allograft rejection_Homo sapiens_hsa05330 | 1.81540639 |
| 10 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.79632317 |
| 11 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.78603493 |
| 12 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.76969076 |
| 13 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.71027881 |
| 14 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.56192534 |
| 15 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.55595123 |
| 16 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.49081325 |
| 17 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.45346459 |
| 18 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.40502201 |
| 19 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.38395646 |
| 20 | Nicotine addiction_Homo sapiens_hsa05033 | 1.31265903 |
| 21 | Morphine addiction_Homo sapiens_hsa05032 | 1.29663936 |
| 22 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.29516523 |
| 23 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.27500710 |
| 24 | Salivary secretion_Homo sapiens_hsa04970 | 1.19848467 |
| 25 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.16882956 |
| 26 | ABC transporters_Homo sapiens_hsa02010 | 1.16807355 |
| 27 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.13301284 |
| 28 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.12373266 |
| 29 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.03254205 |
| 30 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.02902630 |
| 31 | Circadian entrainment_Homo sapiens_hsa04713 | 1.02669905 |
| 32 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.98910493 |
| 33 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.96097148 |
| 34 | RNA transport_Homo sapiens_hsa03013 | 0.95308412 |
| 35 | Viral myocarditis_Homo sapiens_hsa05416 | 0.94334358 |
| 36 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.93818817 |
| 37 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.93554668 |
| 38 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.91521881 |
| 39 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.89600191 |
| 40 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.87290624 |
| 41 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.85535659 |
| 42 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.85276216 |
| 43 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.82429451 |
| 44 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.82008156 |
| 45 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.81107256 |
| 46 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.79226130 |
| 47 | Endocytosis_Homo sapiens_hsa04144 | 0.78075397 |
| 48 | Retinol metabolism_Homo sapiens_hsa00830 | 0.77407010 |
| 49 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.76979292 |
| 50 | Insulin secretion_Homo sapiens_hsa04911 | 0.76742001 |
| 51 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.75422020 |
| 52 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.74121276 |
| 53 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.70648498 |
| 54 | Basal transcription factors_Homo sapiens_hsa03022 | 0.67780047 |
| 55 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.67723889 |
| 56 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.67048633 |
| 57 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.65199907 |
| 58 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.64552436 |
| 59 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.63368515 |
| 60 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.62937646 |
| 61 | Purine metabolism_Homo sapiens_hsa00230 | 0.61715471 |
| 62 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.61479514 |
| 63 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.61026620 |
| 64 | GABAergic synapse_Homo sapiens_hsa04727 | 0.59927094 |
| 65 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.59447928 |
| 66 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.59194473 |
| 67 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.59181350 |
| 68 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.57475260 |
| 69 | Renin secretion_Homo sapiens_hsa04924 | 0.52704438 |
| 70 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.52454363 |
| 71 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.51976314 |
| 72 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.50595246 |
| 73 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.50382135 |
| 74 | Bile secretion_Homo sapiens_hsa04976 | 0.49913555 |
| 75 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.49901294 |
| 76 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.49345528 |
| 77 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.46723916 |
| 78 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.44815929 |
| 79 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.41466040 |
| 80 | Influenza A_Homo sapiens_hsa05164 | 0.41008137 |
| 81 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.40719916 |
| 82 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.40187196 |
| 83 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.38551393 |
| 84 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.37752833 |
| 85 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.37641175 |
| 86 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.37246098 |
| 87 | Tight junction_Homo sapiens_hsa04530 | 0.33195518 |
| 88 | Huntingtons disease_Homo sapiens_hsa05016 | 0.30082715 |
| 89 | Mineral absorption_Homo sapiens_hsa04978 | 0.29447813 |
| 90 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.29432462 |
| 91 | Peroxisome_Homo sapiens_hsa04146 | 0.28995157 |
| 92 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.26855696 |
| 93 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.26785126 |
| 94 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.25355163 |
| 95 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.24705482 |
| 96 | Metabolic pathways_Homo sapiens_hsa01100 | 0.23370438 |
| 97 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.22782524 |
| 98 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.20743259 |
| 99 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.18870067 |
| 100 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.18635328 |

