

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm capacitation (GO:0048240) | 8.78152342 |
| 2 | spermatid development (GO:0007286) | 8.56061194 |
| 3 | chromosome condensation (GO:0030261) | 8.44336709 |
| 4 | protein targeting to Golgi (GO:0000042) | 8.38226842 |
| 5 | DNA packaging (GO:0006323) | 8.24855700 |
| 6 | microtubule depolymerization (GO:0007019) | 8.17147444 |
| 7 | plasma membrane fusion (GO:0045026) | 8.08886997 |
| 8 | establishment of protein localization to Golgi (GO:0072600) | 8.04937574 |
| 9 | protein polyglutamylation (GO:0018095) | 7.84668239 |
| 10 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 7.82562252 |
| 11 | microtubule polymerization or depolymerization (GO:0031109) | 7.21473449 |
| 12 | sperm-egg recognition (GO:0035036) | 7.20810356 |
| 13 | multicellular organism reproduction (GO:0032504) | 7.17586161 |
| 14 | single strand break repair (GO:0000012) | 7.17295385 |
| 15 | rRNA methylation (GO:0031167) | 6.97380279 |
| 16 | spermatid nucleus differentiation (GO:0007289) | 6.87886885 |
| 17 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.75070208 |
| 18 | centriole replication (GO:0007099) | 6.70375425 |
| 19 | binding of sperm to zona pellucida (GO:0007339) | 6.49461541 |
| 20 | reproduction (GO:0000003) | 6.47335319 |
| 21 | calcium ion-dependent exocytosis (GO:0017156) | 6.35601439 |
| 22 | * spermatogenesis (GO:0007283) | 6.33466444 |
| 23 | * male gamete generation (GO:0048232) | 6.31376235 |
| 24 | negative regulation of inclusion body assembly (GO:0090084) | 6.24845572 |
| 25 | axonemal dynein complex assembly (GO:0070286) | 6.23494679 |
| 26 | phosphatidylethanolamine metabolic process (GO:0046337) | 6.22485297 |
| 27 | protein localization to Golgi apparatus (GO:0034067) | 6.02989911 |
| 28 | centriole assembly (GO:0098534) | 5.99732267 |
| 29 | microtubule severing (GO:0051013) | 5.96499458 |
| 30 | cell-cell recognition (GO:0009988) | 5.93267979 |
| 31 | rRNA modification (GO:0000154) | 5.84910343 |
| 32 | * gamete generation (GO:0007276) | 5.82374458 |
| 33 | regulation of cilium movement (GO:0003352) | 5.68482650 |
| 34 | regulation of centriole replication (GO:0046599) | 5.65014864 |
| 35 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.64945228 |
| 36 | sexual reproduction (GO:0019953) | 5.48135640 |
| 37 | seminiferous tubule development (GO:0072520) | 5.47293807 |
| 38 | single fertilization (GO:0007338) | 5.42318101 |
| 39 | response to pheromone (GO:0019236) | 5.35632181 |
| 40 | RNA destabilization (GO:0050779) | 5.11287985 |
| 41 | motile cilium assembly (GO:0044458) | 4.97608902 |
| 42 | germ cell development (GO:0007281) | 4.94958456 |
| 43 | fertilization (GO:0009566) | 4.88446269 |
| 44 | positive regulation of Rab GTPase activity (GO:0032851) | 4.83638362 |
| 45 | regulation of Rab GTPase activity (GO:0032313) | 4.83638362 |
| 46 | epithelial cilium movement (GO:0003351) | 4.80772013 |
| 47 | * multicellular organismal reproductive process (GO:0048609) | 4.66621756 |
| 48 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.64718676 |
| 49 | regulation of inclusion body assembly (GO:0090083) | 4.39071757 |
| 50 | nucleus organization (GO:0006997) | 4.38894870 |
| 51 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.37240644 |
| 52 | microtubule nucleation (GO:0007020) | 4.36433257 |
| 53 | multicellular organismal movement (GO:0050879) | 4.24625140 |
| 54 | musculoskeletal movement (GO:0050881) | 4.24625140 |
| 55 | glomerular visceral epithelial cell development (GO:0072015) | 4.23125163 |
| 56 | cilium movement (GO:0003341) | 4.17297600 |
| 57 | cell wall macromolecule catabolic process (GO:0016998) | 4.16528628 |
| 58 | cell wall macromolecule metabolic process (GO:0044036) | 4.15397004 |
| 59 | cellular ketone body metabolic process (GO:0046950) | 4.12462178 |
| 60 | nuclear pore complex assembly (GO:0051292) | 4.01622764 |
| 61 | glomerular epithelial cell development (GO:0072310) | 3.96538925 |
| 62 | male meiosis (GO:0007140) | 3.93536203 |
| 63 | organic cation transport (GO:0015695) | 3.89942696 |
| 64 | male meiosis I (GO:0007141) | 3.89158842 |
| 65 | piRNA metabolic process (GO:0034587) | 3.86618114 |
| 66 | regulation of microtubule-based movement (GO:0060632) | 3.73633347 |
| 67 | histone H3-K9 demethylation (GO:0033169) | 3.69798855 |
| 68 | DNA methylation involved in gamete generation (GO:0043046) | 3.67928342 |
| 69 | ketone body metabolic process (GO:1902224) | 3.63393666 |
| 70 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.57149673 |
| 71 | response to acidic pH (GO:0010447) | 3.56269092 |
| 72 | chromatin silencing (GO:0006342) | 3.54810122 |
| 73 | cellular response to pH (GO:0071467) | 3.49276725 |
| 74 | Golgi to endosome transport (GO:0006895) | 3.44586801 |
| 75 | polyamine biosynthetic process (GO:0006596) | 3.38326829 |
| 76 | nucleosome disassembly (GO:0006337) | 3.34613202 |
| 77 | protein-DNA complex disassembly (GO:0032986) | 3.34613202 |
| 78 | intra-Golgi vesicle-mediated transport (GO:0006891) | 3.31379423 |
| 79 | regulation of meiosis I (GO:0060631) | 3.22978918 |
| 80 | ventricular system development (GO:0021591) | 3.20957669 |
| 81 | glycerol ether metabolic process (GO:0006662) | 3.16440925 |
| 82 | multicellular organismal development (GO:0007275) | 3.15861412 |
| 83 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 3.11804206 |
| 84 | protein depolymerization (GO:0051261) | 3.10955773 |
| 85 | homeostasis of number of cells within a tissue (GO:0048873) | 3.08895584 |
| 86 | pore complex assembly (GO:0046931) | 3.07569453 |
| 87 | cerebral cortex neuron differentiation (GO:0021895) | 3.04369869 |
| 88 | peptidyl-threonine dephosphorylation (GO:0035970) | 2.99627641 |
| 89 | positive regulation of guanylate cyclase activity (GO:0031284) | 2.98942037 |
| 90 | axoneme assembly (GO:0035082) | 2.98544479 |
| 91 | nuclear pore organization (GO:0006999) | 2.97183934 |
| 92 | meiosis I (GO:0007127) | 2.93526776 |
| 93 | RNA localization (GO:0006403) | 2.92274822 |
| 94 | ether metabolic process (GO:0018904) | 2.91161381 |
| 95 | meiotic nuclear division (GO:0007126) | 2.87491677 |
| 96 | regulation of guanylate cyclase activity (GO:0031282) | 2.85765200 |
| 97 | cell recognition (GO:0008037) | 2.85196286 |
| 98 | sperm motility (GO:0030317) | 12.3246276 |
| 99 | acrosome reaction (GO:0007340) | 11.3098187 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.6646690 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 4.40632987 |
| 2 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 3.98671622 |
| 3 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 3.46034839 |
| 4 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.23265458 |
| 5 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.68567878 |
| 6 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.60983241 |
| 7 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.52137027 |
| 8 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.52137027 |
| 9 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.32844369 |
| 10 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.32844369 |
| 11 | FUS_26573619_Chip-Seq_HEK293_Human | 2.31161343 |
| 12 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.23847234 |
| 13 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.23061310 |
| 14 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.19228640 |
| 15 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.84783503 |
| 16 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.82125535 |
| 17 | ERA_21632823_ChIP-Seq_H3396_Human | 1.75603640 |
| 18 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.73718872 |
| 19 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.66628383 |
| 20 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.66285291 |
| 21 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.65975061 |
| 22 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.64462708 |
| 23 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.64080474 |
| 24 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.63698594 |
| 25 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.61198262 |
| 26 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.61140636 |
| 27 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.59918865 |
| 28 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.59702731 |
| 29 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.59375368 |
| 30 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.56670760 |
| 31 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.54126555 |
| 32 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.53691048 |
| 33 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.53290502 |
| 34 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.51398770 |
| 35 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.50797902 |
| 36 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.50120287 |
| 37 | AR_25329375_ChIP-Seq_VCAP_Human | 1.48168268 |
| 38 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.47320682 |
| 39 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.46789259 |
| 40 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.46608988 |
| 41 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.46493109 |
| 42 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.45432719 |
| 43 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.43966988 |
| 44 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.43882655 |
| 45 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.43181438 |
| 46 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.41359642 |
| 47 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.41225073 |
| 48 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.39868961 |
| 49 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.37027429 |
| 50 | P68_20966046_ChIP-Seq_HELA_Human | 1.36610934 |
| 51 | NFYB_21822215_ChIP-Seq_K562_Human | 1.35080349 |
| 52 | TBL1_22424771_ChIP-Seq_293T_Human | 1.34544208 |
| 53 | P300_19829295_ChIP-Seq_ESCs_Human | 1.33751232 |
| 54 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.32857995 |
| 55 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.32245999 |
| 56 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.31660189 |
| 57 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.31229132 |
| 58 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.30641666 |
| 59 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.30390417 |
| 60 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.29505659 |
| 61 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.29451316 |
| 62 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.29048977 |
| 63 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.28841151 |
| 64 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.24842674 |
| 65 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.23810729 |
| 66 | P300_27268052_Chip-Seq_Bcells_Human | 1.22940939 |
| 67 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.22686198 |
| 68 | STAT3_23295773_ChIP-Seq_U87_Human | 1.20209005 |
| 69 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.19038864 |
| 70 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.19025494 |
| 71 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.18884429 |
| 72 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.18716537 |
| 73 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.18631868 |
| 74 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.17526704 |
| 75 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.15944852 |
| 76 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.15018366 |
| 77 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.14669046 |
| 78 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.14375497 |
| 79 | NFYA_21822215_ChIP-Seq_K562_Human | 1.13437832 |
| 80 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.12785512 |
| 81 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.12565414 |
| 82 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.12389092 |
| 83 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.11544033 |
| 84 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.11000054 |
| 85 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.10783592 |
| 86 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.09929904 |
| 87 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.07536813 |
| 88 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.06883695 |
| 89 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.06533513 |
| 90 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.04968646 |
| 91 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.04168960 |
| 92 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.03674659 |
| 93 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.02565845 |
| 94 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.02565845 |
| 95 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.01771733 |
| 96 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.01252800 |
| 97 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.01166335 |
| 98 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.00749539 |
| 99 | P53_21459846_ChIP-Seq_SAOS-2_Human | 0.99983993 |
| 100 | GBX2_23144817_ChIP-Seq_PC3_Human | 0.99103008 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003878_abnormal_ear_physiology | 5.69081595 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 5.69081595 |
| 3 | MP0005670_abnormal_white_adipose | 4.79159852 |
| 4 | MP0003698_abnormal_male_reproductive | 4.71979732 |
| 5 | MP0001929_abnormal_gametogenesis | 4.28472252 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.07705133 |
| 7 | MP0002161_abnormal_fertility/fecundity | 2.60745069 |
| 8 | MP0003646_muscle_fatigue | 2.49230333 |
| 9 | MP0002210_abnormal_sex_determination | 2.34041991 |
| 10 | MP0005451_abnormal_body_composition | 2.32912746 |
| 11 | MP0003718_maternal_effect | 2.09324709 |
| 12 | MP0005410_abnormal_fertilization | 12.0072616 |
| 13 | MP0001485_abnormal_pinna_reflex | 1.90309492 |
| 14 | MP0000678_abnormal_parathyroid_gland | 1.87412722 |
| 15 | MP0001145_abnormal_male_reproductive | 1.82392977 |
| 16 | MP0008877_abnormal_DNA_methylation | 1.78421610 |
| 17 | MP0000653_abnormal_sex_gland | 1.70854959 |
| 18 | MP0003879_abnormal_hair_cell | 1.61573206 |
| 19 | MP0005379_endocrine/exocrine_gland_phen | 1.59825989 |
| 20 | MP0001486_abnormal_startle_reflex | 1.59643458 |
| 21 | MP0005310_abnormal_salivary_gland | 1.56609090 |
| 22 | MP0002132_abnormal_respiratory_system | 1.51547271 |
| 23 | MP0004742_abnormal_vestibular_system | 1.32609434 |
| 24 | MP0002822_catalepsy | 1.27192889 |
| 25 | MP0005423_abnormal_somatic_nervous | 1.24780583 |
| 26 | MP0002282_abnormal_trachea_morphology | 1.24479948 |
| 27 | MP0003011_delayed_dark_adaptation | 1.22865676 |
| 28 | MP0004859_abnormal_synaptic_plasticity | 1.22626387 |
| 29 | MP0001963_abnormal_hearing_physiology | 1.14184024 |
| 30 | MP0002138_abnormal_hepatobiliary_system | 1.12655812 |
| 31 | MP0009115_abnormal_fat_cell | 1.11255862 |
| 32 | MP0001765_abnormal_ion_homeostasis | 1.04543349 |
| 33 | MP0002249_abnormal_larynx_morphology | 1.02802344 |
| 34 | MP0001984_abnormal_olfaction | 0.98228929 |
| 35 | MP0005666_abnormal_adipose_tissue | 0.97185400 |
| 36 | MP0005551_abnormal_eye_electrophysiolog | 0.96350665 |
| 37 | MP0008995_early_reproductive_senescence | 0.95860076 |
| 38 | MP0009053_abnormal_anal_canal | 0.93598956 |
| 39 | MP0000534_abnormal_ureter_morphology | 0.91759380 |
| 40 | MP0009697_abnormal_copulation | 0.91453703 |
| 41 | MP0005395_other_phenotype | 0.90653681 |
| 42 | MP0000026_abnormal_inner_ear | 0.89418694 |
| 43 | MP0005253_abnormal_eye_physiology | 0.89254366 |
| 44 | MP0002735_abnormal_chemical_nociception | 0.84579240 |
| 45 | MP0001968_abnormal_touch/_nociception | 0.81130669 |
| 46 | MP0002127_abnormal_cardiovascular_syste | 0.80724582 |
| 47 | MP0001905_abnormal_dopamine_level | 0.80314466 |
| 48 | MP0002229_neurodegeneration | 0.78154920 |
| 49 | MP0000955_abnormal_spinal_cord | 0.77985889 |
| 50 | MP0002234_abnormal_pharynx_morphology | 0.76678421 |
| 51 | MP0002067_abnormal_sensory_capabilities | 0.76612922 |
| 52 | MP0005083_abnormal_biliary_tract | 0.75678933 |
| 53 | MP0005167_abnormal_blood-brain_barrier | 0.74586002 |
| 54 | MP0004233_abnormal_muscle_weight | 0.74299189 |
| 55 | MP0008569_lethality_at_weaning | 0.70687964 |
| 56 | MP0005248_abnormal_Harderian_gland | 0.65612576 |
| 57 | MP0002557_abnormal_social/conspecific_i | 0.64313988 |
| 58 | MP0004085_abnormal_heartbeat | 0.64189780 |
| 59 | MP0004510_myositis | 0.63691266 |
| 60 | MP0003077_abnormal_cell_cycle | 0.63442700 |
| 61 | MP0005375_adipose_tissue_phenotype | 0.61950534 |
| 62 | MP0002572_abnormal_emotion/affect_behav | 0.61262241 |
| 63 | MP0004036_abnormal_muscle_relaxation | 0.59360199 |
| 64 | MP0000230_abnormal_systemic_arterial | 0.49810774 |
| 65 | MP0001440_abnormal_grooming_behavior | 0.48847681 |
| 66 | MP0005636_abnormal_mineral_homeostasis | 0.48804748 |
| 67 | MP0002928_abnormal_bile_duct | 0.48737385 |
| 68 | MP0001666_abnormal_nutrient_absorption | 0.47982967 |
| 69 | MP0009745_abnormal_behavioral_response | 0.47516240 |
| 70 | MP0008004_abnormal_stomach_pH | 0.47038621 |
| 71 | MP0002272_abnormal_nervous_system | 0.46201276 |
| 72 | MP0005397_hematopoietic_system_phenotyp | 0.45408392 |
| 73 | MP0001545_abnormal_hematopoietic_system | 0.45408392 |
| 74 | MP0002733_abnormal_thermal_nociception | 0.45053839 |
| 75 | MP0003699_abnormal_female_reproductive | 0.43357671 |
| 76 | MP0003631_nervous_system_phenotype | 0.42384129 |
| 77 | MP0005535_abnormal_body_temperature | 0.42191828 |
| 78 | MP0001270_distended_abdomen | 0.40243133 |
| 79 | MP0005647_abnormal_sex_gland | 0.39695470 |
| 80 | MP0003936_abnormal_reproductive_system | 0.39691278 |
| 81 | MP0005391_vision/eye_phenotype | 0.39587591 |
| 82 | MP0002160_abnormal_reproductive_system | 0.39262051 |
| 83 | MP0004084_abnormal_cardiac_muscle | 0.39211999 |
| 84 | MP0010329_abnormal_lipoprotein_level | 0.38886156 |
| 85 | MP0001501_abnormal_sleep_pattern | 0.38063439 |
| 86 | MP0003119_abnormal_digestive_system | 0.37341255 |
| 87 | MP0000681_abnormal_thyroid_gland | 0.37196162 |
| 88 | MP0000049_abnormal_middle_ear | 0.36013566 |
| 89 | MP0000003_abnormal_adipose_tissue | 0.35829566 |
| 90 | MP0002734_abnormal_mechanical_nocicepti | 0.34711468 |
| 91 | MP0003137_abnormal_impulse_conducting | 0.34123346 |
| 92 | MP0005645_abnormal_hypothalamus_physiol | 0.32976050 |
| 93 | MP0005408_hypopigmentation | 0.32548103 |
| 94 | MP0003633_abnormal_nervous_system | 0.32423695 |
| 95 | MP0002269_muscular_atrophy | 0.32317826 |
| 96 | MP0003632_abnormal_nervous_system | 0.32262453 |
| 97 | MP0000470_abnormal_stomach_morphology | 0.32113440 |
| 98 | MP0003635_abnormal_synaptic_transmissio | 0.32069526 |
| 99 | MP0005595_abnormal_vascular_smooth | 0.31940275 |
| 100 | MP0001970_abnormal_pain_threshold | 0.31241714 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 7.13880009 |
| 2 | Tubulointerstitial nephritis (HP:0001970) | 7.07833990 |
| 3 | Chronic hepatic failure (HP:0100626) | 6.41500693 |
| 4 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.16818952 |
| 5 | Absent/shortened dynein arms (HP:0200106) | 6.16818952 |
| 6 | Asymmetric septal hypertrophy (HP:0001670) | 5.65256658 |
| 7 | Resting tremor (HP:0002322) | 4.97999344 |
| 8 | Hyperkalemia (HP:0002153) | 4.86058321 |
| 9 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.77621491 |
| 10 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.72284643 |
| 11 | Abnormal ciliary motility (HP:0012262) | 4.68932291 |
| 12 | Male infertility (HP:0003251) | 4.61371996 |
| 13 | Cone-rod dystrophy (HP:0000548) | 4.55018344 |
| 14 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.44428583 |
| 15 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.43005923 |
| 16 | Attenuation of retinal blood vessels (HP:0007843) | 4.37221861 |
| 17 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.29209487 |
| 18 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.29209487 |
| 19 | Infertility (HP:0000789) | 4.26384026 |
| 20 | Nasal polyposis (HP:0100582) | 4.24866434 |
| 21 | Abnormality of macular pigmentation (HP:0008002) | 4.23272108 |
| 22 | Hypoalphalipoproteinemia (HP:0003233) | 4.10933131 |
| 23 | Menstrual irregularities (HP:0000858) | 4.04391992 |
| 24 | Progressive sensorineural hearing impairment (HP:0000408) | 3.70186302 |
| 25 | Bell-shaped thorax (HP:0001591) | 3.67068662 |
| 26 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.63457351 |
| 27 | Hypoplasia of the thymus (HP:0000778) | 3.61591206 |
| 28 | Impulsivity (HP:0100710) | 3.50257000 |
| 29 | Abnormality of the nasal mucosa (HP:0000433) | 3.45740050 |
| 30 | Renovascular hypertension (HP:0100817) | 3.42503111 |
| 31 | Postural instability (HP:0002172) | 3.40769122 |
| 32 | Truncal obesity (HP:0001956) | 3.33219713 |
| 33 | Potter facies (HP:0002009) | 3.29384236 |
| 34 | Facial shape deformation (HP:0011334) | 3.29384236 |
| 35 | Tubulointerstitial abnormality (HP:0001969) | 3.26229361 |
| 36 | Abnormality of dental color (HP:0011073) | 3.24617893 |
| 37 | Amelogenesis imperfecta (HP:0000705) | 3.20778343 |
| 38 | Insulin-resistant diabetes mellitus (HP:0000831) | 3.14533659 |
| 39 | Portal hypertension (HP:0001409) | 3.11768196 |
| 40 | Progressive cerebellar ataxia (HP:0002073) | 3.02146963 |
| 41 | Nephronophthisis (HP:0000090) | 3.01993800 |
| 42 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.00796489 |
| 43 | Enlarged epiphyses (HP:0010580) | 2.97935705 |
| 44 | Stage 5 chronic kidney disease (HP:0003774) | 2.92373328 |
| 45 | Abnormality of the hepatic vasculature (HP:0006707) | 2.87916882 |
| 46 | Rhinitis (HP:0012384) | 2.85654290 |
| 47 | Abnormal spermatogenesis (HP:0008669) | 2.84636365 |
| 48 | Hypoplastic ischia (HP:0003175) | 2.77915406 |
| 49 | Hyperuricemia (HP:0002149) | 2.65537880 |
| 50 | Increased purine levels (HP:0004368) | 2.65537880 |
| 51 | Abnormality of the renal medulla (HP:0100957) | 2.63325190 |
| 52 | Abnormality of the ischium (HP:0003174) | 2.52767279 |
| 53 | Abnormality of potassium homeostasis (HP:0011042) | 2.52278864 |
| 54 | Abnormal urine output (HP:0012590) | 2.51949061 |
| 55 | Abnormality of the costochondral junction (HP:0000919) | 2.50518984 |
| 56 | Intellectual disability, moderate (HP:0002342) | 2.48549441 |
| 57 | Chronic bronchitis (HP:0004469) | 2.47275228 |
| 58 | Subcapsular cataract (HP:0000523) | 2.46131765 |
| 59 | Osteomalacia (HP:0002749) | 2.45077509 |
| 60 | Progressive hearing impairment (HP:0001730) | 2.39674393 |
| 61 | Abnormal drinking behavior (HP:0030082) | 2.38393222 |
| 62 | Polydipsia (HP:0001959) | 2.38393222 |
| 63 | Generalized aminoaciduria (HP:0002909) | 2.35935880 |
| 64 | Azoospermia (HP:0000027) | 2.33183314 |
| 65 | Abnormality of renal excretion (HP:0011036) | 2.27158945 |
| 66 | Horizontal nystagmus (HP:0000666) | 2.26730386 |
| 67 | Flattened epiphyses (HP:0003071) | 2.10450822 |
| 68 | Recurrent pneumonia (HP:0006532) | 2.09968369 |
| 69 | Hypolipoproteinemia (HP:0010981) | 2.08205518 |
| 70 | Focal segmental glomerulosclerosis (HP:0000097) | 2.06697143 |
| 71 | Bronchiectasis (HP:0002110) | 2.06157956 |
| 72 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.04415111 |
| 73 | Polyuria (HP:0000103) | 2.02143292 |
| 74 | Myokymia (HP:0002411) | 1.99517786 |
| 75 | Optic nerve hypoplasia (HP:0000609) | 1.94487557 |
| 76 | Widely patent fontanelles and sutures (HP:0004492) | 1.91555550 |
| 77 | Hypophosphatemic rickets (HP:0004912) | 1.90489625 |
| 78 | Congenital sensorineural hearing impairment (HP:0008527) | 1.87353483 |
| 79 | Occipital encephalocele (HP:0002085) | 1.86668185 |
| 80 | Insulin resistance (HP:0000855) | 1.80844028 |
| 81 | Ventricular tachycardia (HP:0004756) | 1.80394158 |
| 82 | Renal dysplasia (HP:0000110) | 1.79480199 |
| 83 | Abnormality of the aortic arch (HP:0012303) | 1.77437827 |
| 84 | Abnormality of purine metabolism (HP:0004352) | 1.77349794 |
| 85 | Sandal gap (HP:0001852) | 1.77129370 |
| 86 | Abnormality of chloride homeostasis (HP:0011422) | 1.75878999 |
| 87 | Tubular atrophy (HP:0000092) | 1.75741930 |
| 88 | Photophobia (HP:0000613) | 1.73553787 |
| 89 | Upper limb muscle weakness (HP:0003484) | 1.70290225 |
| 90 | Epiphyseal dysplasia (HP:0002656) | 1.65940680 |
| 91 | Gingivitis (HP:0000230) | 1.65815085 |
| 92 | Obsessive-compulsive behavior (HP:0000722) | 1.65783280 |
| 93 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.65618040 |
| 94 | Hyponatremia (HP:0002902) | 1.65386040 |
| 95 | Glomerulosclerosis (HP:0000096) | 1.63875284 |
| 96 | Renal Fanconi syndrome (HP:0001994) | 1.62179777 |
| 97 | Hypoalbuminemia (HP:0003073) | 1.61331021 |
| 98 | Abnormal albumin level (HP:0012116) | 1.61331021 |
| 99 | Hypergonadotropic hypogonadism (HP:0000815) | 1.58307420 |
| 100 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.58033799 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 9.14066157 |
| 2 | PNCK | 5.17736404 |
| 3 | INSRR | 4.13494504 |
| 4 | TESK1 | 4.11258338 |
| 5 | BRD4 | 3.76405945 |
| 6 | PLK2 | 3.69577570 |
| 7 | DDR2 | 3.37519175 |
| 8 | CAMK1G | 3.21358241 |
| 9 | STK38 | 3.05258770 |
| 10 | STK38L | 2.39354131 |
| 11 | PRKD3 | 2.22407601 |
| 12 | MAP4K2 | 2.18690791 |
| 13 | PIK3CG | 2.08990803 |
| 14 | MST1R | 1.96482958 |
| 15 | PTK2B | 1.80942762 |
| 16 | MAPK15 | 1.65047862 |
| 17 | TYRO3 | 1.62258389 |
| 18 | NEK6 | 1.55640574 |
| 19 | PDPK1 | 1.44883327 |
| 20 | PDK1 | 1.43007390 |
| 21 | CDK12 | 1.37649274 |
| 22 | MET | 1.37416990 |
| 23 | DYRK1B | 1.15777246 |
| 24 | WNK1 | 1.10872418 |
| 25 | PINK1 | 1.04642458 |
| 26 | CDK7 | 0.95746950 |
| 27 | SIK2 | 0.87666032 |
| 28 | MAP3K9 | 0.87442585 |
| 29 | AKT3 | 0.86484549 |
| 30 | CAMK1D | 0.78939110 |
| 31 | LATS1 | 0.73235993 |
| 32 | BRAF | 0.72749297 |
| 33 | KSR2 | 0.72679534 |
| 34 | PRKG2 | 0.70812353 |
| 35 | CAMK1 | 0.64361649 |
| 36 | PRKG1 | 0.60393435 |
| 37 | TIE1 | 0.60353905 |
| 38 | CDK3 | 0.59250134 |
| 39 | MAP3K11 | 0.57617410 |
| 40 | ROCK1 | 0.55387331 |
| 41 | MAP2K2 | 0.54472139 |
| 42 | MAP3K2 | 0.49237869 |
| 43 | RPS6KA2 | 0.47395992 |
| 44 | RPS6KA1 | 0.47207471 |
| 45 | SGK494 | 0.45687150 |
| 46 | SGK223 | 0.45687150 |
| 47 | CDK19 | 0.44298813 |
| 48 | OXSR1 | 0.43823766 |
| 49 | NEK2 | 0.43663000 |
| 50 | LATS2 | 0.40160209 |
| 51 | CDK2 | 0.39933400 |
| 52 | MAPK1 | 0.37787049 |
| 53 | GSK3B | 0.36539124 |
| 54 | CDK1 | 0.36395186 |
| 55 | MARK3 | 0.34386168 |
| 56 | CSF1R | 0.33814484 |
| 57 | UHMK1 | 0.32962565 |
| 58 | ARAF | 0.32663168 |
| 59 | BRSK1 | 0.32303051 |
| 60 | SGK1 | 0.32139069 |
| 61 | PRKAA2 | 0.31817921 |
| 62 | JAK3 | 0.31377627 |
| 63 | MTOR | 0.31151198 |
| 64 | CHEK1 | 0.29973724 |
| 65 | MAP3K4 | 0.28851177 |
| 66 | MAP3K1 | 0.28624313 |
| 67 | MARK1 | 0.28613717 |
| 68 | STK39 | 0.28579513 |
| 69 | NTRK3 | 0.27670437 |
| 70 | PRKCZ | 0.24603632 |
| 71 | MAPK8 | 0.24577645 |
| 72 | BMX | 0.24122394 |
| 73 | MAP3K8 | 0.24086608 |
| 74 | BMPR1B | 0.22764525 |
| 75 | PRKCG | 0.22647596 |
| 76 | RPS6KC1 | 0.20682634 |
| 77 | RPS6KL1 | 0.20682634 |
| 78 | MAPK11 | 0.20323863 |
| 79 | WNK4 | 0.19564859 |
| 80 | PRKCB | 0.18888648 |
| 81 | MAPK10 | 0.18297860 |
| 82 | SGK2 | 0.17822319 |
| 83 | MAPK14 | 0.17543117 |
| 84 | RPS6KA6 | 0.17532017 |
| 85 | CAMK4 | 0.17422026 |
| 86 | RIPK4 | 0.15559916 |
| 87 | CDK4 | 0.15198767 |
| 88 | MAP2K7 | 0.13511595 |
| 89 | FGR | 0.13076665 |
| 90 | RET | 0.12748431 |
| 91 | MARK2 | 0.12264926 |
| 92 | MAP3K10 | 0.12088557 |
| 93 | MUSK | 0.11356241 |
| 94 | AKT1 | 0.10238586 |
| 95 | TNIK | 0.09454880 |
| 96 | PKN1 | 0.09162052 |
| 97 | DYRK3 | 0.08785903 |
| 98 | TESK2 | 0.08019095 |
| 99 | PRKACB | 0.07993202 |
| 100 | BRSK2 | 0.07786978 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 7.52749047 |
| 2 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 5.89217146 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.81923507 |
| 4 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.24366275 |
| 5 | RNA transport_Homo sapiens_hsa03013 | 2.21956502 |
| 6 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 2.04855577 |
| 7 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.02483219 |
| 8 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.92434945 |
| 9 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.90340777 |
| 10 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.90081944 |
| 11 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.79174009 |
| 12 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.67618849 |
| 13 | Taste transduction_Homo sapiens_hsa04742 | 1.66751096 |
| 14 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.57721926 |
| 15 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.52967658 |
| 16 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.52018865 |
| 17 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.45837236 |
| 18 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.33547117 |
| 19 | Phototransduction_Homo sapiens_hsa04744 | 1.17878071 |
| 20 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.12551449 |
| 21 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.12403368 |
| 22 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.11272920 |
| 23 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.11091306 |
| 24 | ABC transporters_Homo sapiens_hsa02010 | 1.06179108 |
| 25 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.05878001 |
| 26 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.05379747 |
| 27 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.01514302 |
| 28 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.01137212 |
| 29 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.99600632 |
| 30 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.99113521 |
| 31 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.94557878 |
| 32 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.93843739 |
| 33 | Morphine addiction_Homo sapiens_hsa05032 | 0.92596779 |
| 34 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.89202863 |
| 35 | Salivary secretion_Homo sapiens_hsa04970 | 0.89125583 |
| 36 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.88614786 |
| 37 | Nicotine addiction_Homo sapiens_hsa05033 | 0.86753053 |
| 38 | Endocytosis_Homo sapiens_hsa04144 | 0.86669970 |
| 39 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.85754047 |
| 40 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.85012851 |
| 41 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.83441169 |
| 42 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.79461267 |
| 43 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.79411739 |
| 44 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.78416631 |
| 45 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.77673997 |
| 46 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.77461898 |
| 47 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.77240484 |
| 48 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.77005811 |
| 49 | Circadian entrainment_Homo sapiens_hsa04713 | 0.76144643 |
| 50 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.73876191 |
| 51 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.73493602 |
| 52 | Influenza A_Homo sapiens_hsa05164 | 0.72813494 |
| 53 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.70489995 |
| 54 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.69628093 |
| 55 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.64782371 |
| 56 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.63202704 |
| 57 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.62915446 |
| 58 | Renin secretion_Homo sapiens_hsa04924 | 0.62840456 |
| 59 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.62762743 |
| 60 | Viral myocarditis_Homo sapiens_hsa05416 | 0.60357071 |
| 61 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.59336647 |
| 62 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.59323617 |
| 63 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.58663940 |
| 64 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.58509983 |
| 65 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.57437468 |
| 66 | Allograft rejection_Homo sapiens_hsa05330 | 0.55224754 |
| 67 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.54512313 |
| 68 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.52348657 |
| 69 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.50465988 |
| 70 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.50007365 |
| 71 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.49685009 |
| 72 | Retinol metabolism_Homo sapiens_hsa00830 | 0.48766226 |
| 73 | Bile secretion_Homo sapiens_hsa04976 | 0.48450344 |
| 74 | Long-term potentiation_Homo sapiens_hsa04720 | 0.47682312 |
| 75 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.46994065 |
| 76 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.45816266 |
| 77 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.44992629 |
| 78 | Gap junction_Homo sapiens_hsa04540 | 0.43203526 |
| 79 | Tight junction_Homo sapiens_hsa04530 | 0.40836783 |
| 80 | Purine metabolism_Homo sapiens_hsa00230 | 0.40789399 |
| 81 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.40141618 |
| 82 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.39972891 |
| 83 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.39962384 |
| 84 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.38315612 |
| 85 | Insulin secretion_Homo sapiens_hsa04911 | 0.37471796 |
| 86 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.37464298 |
| 87 | GABAergic synapse_Homo sapiens_hsa04727 | 0.36353197 |
| 88 | Basal transcription factors_Homo sapiens_hsa03022 | 0.31641651 |
| 89 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.31034945 |
| 90 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.30370231 |
| 91 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.30083064 |
| 92 | Sulfur relay system_Homo sapiens_hsa04122 | 0.28146774 |
| 93 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.27651006 |
| 94 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.21350062 |
| 95 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.21322788 |
| 96 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.21183733 |
| 97 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.21168449 |
| 98 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.19857557 |
| 99 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.19534471 |
| 100 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.18929067 |

