

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm capacitation (GO:0048240) | 9.25127198 |
| 2 | spermatid development (GO:0007286) | 8.77900996 |
| 3 | chromosome condensation (GO:0030261) | 8.46585757 |
| 4 | DNA packaging (GO:0006323) | 8.35137044 |
| 5 | plasma membrane fusion (GO:0045026) | 8.20240775 |
| 6 | microtubule depolymerization (GO:0007019) | 8.15677199 |
| 7 | single strand break repair (GO:0000012) | 7.70831028 |
| 8 | protein polyglutamylation (GO:0018095) | 7.65936620 |
| 9 | sperm-egg recognition (GO:0035036) | 7.56743255 |
| 10 | multicellular organism reproduction (GO:0032504) | 7.56027090 |
| 11 | spermatid nucleus differentiation (GO:0007289) | 7.37789417 |
| 12 | protein targeting to Golgi (GO:0000042) | 7.20048053 |
| 13 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 7.09482960 |
| 14 | rRNA methylation (GO:0031167) | 7.04664429 |
| 15 | establishment of protein localization to Golgi (GO:0072600) | 6.95323816 |
| 16 | reproduction (GO:0000003) | 6.85584056 |
| 17 | microtubule polymerization or depolymerization (GO:0031109) | 6.72367572 |
| 18 | negative regulation of inclusion body assembly (GO:0090084) | 6.72242891 |
| 19 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 6.71746380 |
| 20 | binding of sperm to zona pellucida (GO:0007339) | 6.68890171 |
| 21 | phosphatidylethanolamine metabolic process (GO:0046337) | 6.65353430 |
| 22 | response to pheromone (GO:0019236) | 6.49567715 |
| 23 | axonemal dynein complex assembly (GO:0070286) | 6.46997279 |
| 24 | calcium ion-dependent exocytosis (GO:0017156) | 6.45059881 |
| 25 | microtubule severing (GO:0051013) | 6.44028801 |
| 26 | cell-cell recognition (GO:0009988) | 6.23387085 |
| 27 | spermatogenesis (GO:0007283) | 6.22253118 |
| 28 | male gamete generation (GO:0048232) | 6.20177688 |
| 29 | regulation of cilium movement (GO:0003352) | 6.07999049 |
| 30 | rRNA modification (GO:0000154) | 5.93945670 |
| 31 | sexual reproduction (GO:0019953) | 5.90196897 |
| 32 | cellular ketone body metabolic process (GO:0046950) | 5.86110866 |
| 33 | cell wall macromolecule catabolic process (GO:0016998) | 5.83609531 |
| 34 | gamete generation (GO:0007276) | 5.69172060 |
| 35 | centriole replication (GO:0007099) | 5.51370771 |
| 36 | cell wall macromolecule metabolic process (GO:0044036) | 5.45256902 |
| 37 | single fertilization (GO:0007338) | 5.26800174 |
| 38 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.25498220 |
| 39 | RNA destabilization (GO:0050779) | 5.18879995 |
| 40 | ketone body metabolic process (GO:1902224) | 5.17002815 |
| 41 | protein localization to Golgi apparatus (GO:0034067) | 5.15248426 |
| 42 | centriole assembly (GO:0098534) | 4.97502283 |
| 43 | germ cell development (GO:0007281) | 4.89858174 |
| 44 | positive regulation of Rab GTPase activity (GO:0032851) | 4.87622897 |
| 45 | regulation of Rab GTPase activity (GO:0032313) | 4.87622897 |
| 46 | motile cilium assembly (GO:0044458) | 4.86569790 |
| 47 | regulation of inclusion body assembly (GO:0090083) | 4.78350415 |
| 48 | epithelial cilium movement (GO:0003351) | 4.74529754 |
| 49 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.58613542 |
| 50 | multicellular organismal reproductive process (GO:0048609) | 4.57782386 |
| 51 | regulation of centriole replication (GO:0046599) | 4.56447801 |
| 52 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.52952106 |
| 53 | seminiferous tubule development (GO:0072520) | 4.48310139 |
| 54 | fertilization (GO:0009566) | 4.43990412 |
| 55 | regulation of microtubule-based movement (GO:0060632) | 4.31789613 |
| 56 | organic cation transport (GO:0015695) | 4.23916597 |
| 57 | cilium movement (GO:0003341) | 4.13546417 |
| 58 | nucleus organization (GO:0006997) | 4.08390314 |
| 59 | multicellular organismal movement (GO:0050879) | 3.91354289 |
| 60 | musculoskeletal movement (GO:0050881) | 3.91354289 |
| 61 | response to acidic pH (GO:0010447) | 3.71771966 |
| 62 | polyamine biosynthetic process (GO:0006596) | 3.68533926 |
| 63 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.68433718 |
| 64 | chromatin silencing (GO:0006342) | 3.66042266 |
| 65 | microtubule nucleation (GO:0007020) | 3.55872905 |
| 66 | cellular response to pH (GO:0071467) | 3.38010271 |
| 67 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.36847896 |
| 68 | nucleosome disassembly (GO:0006337) | 3.34845578 |
| 69 | protein-DNA complex disassembly (GO:0032986) | 3.34845578 |
| 70 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 3.29212897 |
| 71 | coenzyme catabolic process (GO:0009109) | 3.25133088 |
| 72 | Golgi to endosome transport (GO:0006895) | 3.22872014 |
| 73 | multicellular organismal development (GO:0007275) | 3.19619157 |
| 74 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 3.18249609 |
| 75 | cerebral cortex neuron differentiation (GO:0021895) | 3.16777405 |
| 76 | homeostasis of number of cells within a tissue (GO:0048873) | 3.08780519 |
| 77 | glomerular visceral epithelial cell development (GO:0072015) | 3.06221004 |
| 78 | cell recognition (GO:0008037) | 3.04784644 |
| 79 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.04530130 |
| 80 | protein depolymerization (GO:0051261) | 2.98848150 |
| 81 | glycerol ether metabolic process (GO:0006662) | 2.97838598 |
| 82 | ventricular system development (GO:0021591) | 2.97377959 |
| 83 | regulation of interleukin-13 production (GO:0032656) | 2.97141677 |
| 84 | glomerular epithelial cell development (GO:0072310) | 2.95183884 |
| 85 | regulation of T-helper 2 cell differentiation (GO:0045628) | 2.95166632 |
| 86 | positive regulation of endothelial cell differentiation (GO:0045603) | 2.89424401 |
| 87 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 2.88656216 |
| 88 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 2.86359114 |
| 89 | male meiosis (GO:0007140) | 2.86350668 |
| 90 | intra-Golgi vesicle-mediated transport (GO:0006891) | 2.85257947 |
| 91 | positive regulation of guanylate cyclase activity (GO:0031284) | 2.80993381 |
| 92 | centrosome duplication (GO:0051298) | 2.80889899 |
| 93 | peptidyl-glutamic acid modification (GO:0018200) | 2.76342367 |
| 94 | ether metabolic process (GO:0018904) | 2.74070349 |
| 95 | mitochondrial fission (GO:0000266) | 2.72635778 |
| 96 | histone H3-K9 demethylation (GO:0033169) | 2.70355067 |
| 97 | DNA conformation change (GO:0071103) | 2.69456019 |
| 98 | sperm motility (GO:0030317) | 12.4421162 |
| 99 | acrosome reaction (GO:0007340) | 11.9097444 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.8193818 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 3.88426654 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.45306399 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.17958420 |
| 4 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.73329726 |
| 5 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.47402699 |
| 6 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.43957933 |
| 7 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.42736740 |
| 8 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.42736740 |
| 9 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.35219276 |
| 10 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.32778925 |
| 11 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.32778925 |
| 12 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.23713828 |
| 13 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.11471394 |
| 14 | FUS_26573619_Chip-Seq_HEK293_Human | 2.00585790 |
| 15 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.97923050 |
| 16 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.92595902 |
| 17 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.83022585 |
| 18 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.82352118 |
| 19 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.76428116 |
| 20 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.75249541 |
| 21 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.73853330 |
| 22 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.71749753 |
| 23 | ERA_21632823_ChIP-Seq_H3396_Human | 1.70746746 |
| 24 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.70199544 |
| 25 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.66197857 |
| 26 | VDR_22108803_ChIP-Seq_LS180_Human | 1.65511541 |
| 27 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.63764179 |
| 28 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.62798262 |
| 29 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.62401381 |
| 30 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.62299854 |
| 31 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.58585320 |
| 32 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.56882327 |
| 33 | AR_25329375_ChIP-Seq_VCAP_Human | 1.55975848 |
| 34 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.55162053 |
| 35 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.51153662 |
| 36 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.50748407 |
| 37 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.48743611 |
| 38 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.48102242 |
| 39 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.46878707 |
| 40 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.45111502 |
| 41 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.44746527 |
| 42 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.41728024 |
| 43 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.41664922 |
| 44 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.41402324 |
| 45 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.41083866 |
| 46 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.40819624 |
| 47 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.40627008 |
| 48 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.39545215 |
| 49 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.39159066 |
| 50 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.38943197 |
| 51 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.38679114 |
| 52 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.36598701 |
| 53 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.36547915 |
| 54 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.35124210 |
| 55 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.34913848 |
| 56 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.33234631 |
| 57 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.33193661 |
| 58 | P68_20966046_ChIP-Seq_HELA_Human | 1.33016340 |
| 59 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.32866352 |
| 60 | P300_19829295_ChIP-Seq_ESCs_Human | 1.31453729 |
| 61 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.31408469 |
| 62 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.31280951 |
| 63 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.28661984 |
| 64 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.28551451 |
| 65 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.28527553 |
| 66 | NFYB_21822215_ChIP-Seq_K562_Human | 1.26742840 |
| 67 | TBL1_22424771_ChIP-Seq_293T_Human | 1.26689567 |
| 68 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.23933571 |
| 69 | P300_27268052_Chip-Seq_Bcells_Human | 1.23871894 |
| 70 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.22386951 |
| 71 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.22119975 |
| 72 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.20229121 |
| 73 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.20157905 |
| 74 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.18777753 |
| 75 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.18263586 |
| 76 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.17792686 |
| 77 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.17792686 |
| 78 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.17297667 |
| 79 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.17152206 |
| 80 | STAT3_23295773_ChIP-Seq_U87_Human | 1.15430912 |
| 81 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.12087560 |
| 82 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.11800294 |
| 83 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.11661332 |
| 84 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.11228836 |
| 85 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.10848328 |
| 86 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.10567219 |
| 87 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.10444663 |
| 88 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.10277023 |
| 89 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.10219367 |
| 90 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.09912729 |
| 91 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.09901643 |
| 92 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.09345520 |
| 93 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.08993779 |
| 94 | NFYA_21822215_ChIP-Seq_K562_Human | 1.08955213 |
| 95 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.08532457 |
| 96 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.07609951 |
| 97 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.05351180 |
| 98 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.03281394 |
| 99 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.99818026 |
| 100 | GBX2_23144817_ChIP-Seq_PC3_Human | 0.99616686 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003878_abnormal_ear_physiology | 4.92669782 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 4.92669782 |
| 3 | MP0005670_abnormal_white_adipose | 4.92140318 |
| 4 | MP0003698_abnormal_male_reproductive | 4.63313950 |
| 5 | MP0001929_abnormal_gametogenesis | 4.09783182 |
| 6 | MP0002161_abnormal_fertility/fecundity | 2.58299586 |
| 7 | MP0001348_abnormal_lacrimal_gland | 2.54976015 |
| 8 | MP0003646_muscle_fatigue | 2.42160979 |
| 9 | MP0003718_maternal_effect | 2.18374480 |
| 10 | MP0005410_abnormal_fertilization | 12.4378260 |
| 11 | MP0005423_abnormal_somatic_nervous | 1.96846659 |
| 12 | MP0002210_abnormal_sex_determination | 1.95625296 |
| 13 | MP0000678_abnormal_parathyroid_gland | 1.86263347 |
| 14 | MP0001485_abnormal_pinna_reflex | 1.69923147 |
| 15 | MP0009053_abnormal_anal_canal | 1.68393122 |
| 16 | MP0001486_abnormal_startle_reflex | 1.64578540 |
| 17 | MP0001145_abnormal_male_reproductive | 1.60654023 |
| 18 | MP0000653_abnormal_sex_gland | 1.52723335 |
| 19 | MP0002132_abnormal_respiratory_system | 1.50052991 |
| 20 | MP0005379_endocrine/exocrine_gland_phen | 1.44285970 |
| 21 | MP0002822_catalepsy | 1.43858497 |
| 22 | MP0002735_abnormal_chemical_nociception | 1.41276329 |
| 23 | MP0005310_abnormal_salivary_gland | 1.38200561 |
| 24 | MP0003879_abnormal_hair_cell | 1.38192077 |
| 25 | MP0003011_delayed_dark_adaptation | 1.32845789 |
| 26 | MP0002234_abnormal_pharynx_morphology | 1.32772499 |
| 27 | MP0001765_abnormal_ion_homeostasis | 1.32152403 |
| 28 | MP0004859_abnormal_synaptic_plasticity | 1.26846585 |
| 29 | MP0001968_abnormal_touch/_nociception | 1.26452078 |
| 30 | MP0004742_abnormal_vestibular_system | 1.23140284 |
| 31 | MP0005451_abnormal_body_composition | 1.22991030 |
| 32 | MP0001963_abnormal_hearing_physiology | 1.18966109 |
| 33 | MP0002138_abnormal_hepatobiliary_system | 1.15646226 |
| 34 | MP0002282_abnormal_trachea_morphology | 1.12004693 |
| 35 | MP0002249_abnormal_larynx_morphology | 1.10294258 |
| 36 | MP0005551_abnormal_eye_electrophysiolog | 1.05760014 |
| 37 | MP0000534_abnormal_ureter_morphology | 1.01115416 |
| 38 | MP0001501_abnormal_sleep_pattern | 1.00644227 |
| 39 | MP0005248_abnormal_Harderian_gland | 1.00621253 |
| 40 | MP0009115_abnormal_fat_cell | 0.98124475 |
| 41 | MP0005395_other_phenotype | 0.94951330 |
| 42 | MP0000955_abnormal_spinal_cord | 0.94113752 |
| 43 | MP0000026_abnormal_inner_ear | 0.94014115 |
| 44 | MP0005253_abnormal_eye_physiology | 0.90750353 |
| 45 | MP0002229_neurodegeneration | 0.89382988 |
| 46 | MP0001905_abnormal_dopamine_level | 0.87749563 |
| 47 | MP0005167_abnormal_blood-brain_barrier | 0.87067104 |
| 48 | MP0002067_abnormal_sensory_capabilities | 0.84434403 |
| 49 | MP0002272_abnormal_nervous_system | 0.84323641 |
| 50 | MP0005408_hypopigmentation | 0.81421990 |
| 51 | MP0002557_abnormal_social/conspecific_i | 0.80562467 |
| 52 | MP0008569_lethality_at_weaning | 0.78740430 |
| 53 | MP0004510_myositis | 0.77116155 |
| 54 | MP0002127_abnormal_cardiovascular_syste | 0.77105531 |
| 55 | MP0003880_abnormal_central_pattern | 0.76629303 |
| 56 | MP0002733_abnormal_thermal_nociception | 0.76430454 |
| 57 | MP0008877_abnormal_DNA_methylation | 0.76355497 |
| 58 | MP0009745_abnormal_behavioral_response | 0.71756572 |
| 59 | MP0002653_abnormal_ependyma_morphology | 0.66983349 |
| 60 | MP0005666_abnormal_adipose_tissue | 0.66692066 |
| 61 | MP0004085_abnormal_heartbeat | 0.66240093 |
| 62 | MP0001440_abnormal_grooming_behavior | 0.65936838 |
| 63 | MP0002572_abnormal_emotion/affect_behav | 0.65377807 |
| 64 | MP0004233_abnormal_muscle_weight | 0.63296263 |
| 65 | MP0005636_abnormal_mineral_homeostasis | 0.60766902 |
| 66 | MP0008995_early_reproductive_senescence | 0.60483838 |
| 67 | MP0004019_abnormal_vitamin_homeostasis | 0.59052788 |
| 68 | MP0001986_abnormal_taste_sensitivity | 0.59045994 |
| 69 | MP0001984_abnormal_olfaction | 0.58014342 |
| 70 | MP0001970_abnormal_pain_threshold | 0.56958039 |
| 71 | MP0009697_abnormal_copulation | 0.56704524 |
| 72 | MP0000681_abnormal_thyroid_gland | 0.56152653 |
| 73 | MP0000049_abnormal_middle_ear | 0.55666422 |
| 74 | MP0003631_nervous_system_phenotype | 0.54474792 |
| 75 | MP0005083_abnormal_biliary_tract | 0.54442440 |
| 76 | MP0001879_abnormal_lymphatic_vessel | 0.53572820 |
| 77 | MP0003119_abnormal_digestive_system | 0.51984901 |
| 78 | MP0005375_adipose_tissue_phenotype | 0.49828057 |
| 79 | MP0004484_altered_response_of | 0.49026644 |
| 80 | MP0004036_abnormal_muscle_relaxation | 0.48550883 |
| 81 | MP0003635_abnormal_synaptic_transmissio | 0.47763272 |
| 82 | MP0000613_abnormal_salivary_gland | 0.46870089 |
| 83 | MP0003632_abnormal_nervous_system | 0.46386686 |
| 84 | MP0005647_abnormal_sex_gland | 0.44968390 |
| 85 | MP0000516_abnormal_urinary_system | 0.44575164 |
| 86 | MP0005367_renal/urinary_system_phenotyp | 0.44575164 |
| 87 | MP0002736_abnormal_nociception_after | 0.43835041 |
| 88 | MP0009046_muscle_twitch | 0.43788573 |
| 89 | MP0003633_abnormal_nervous_system | 0.41959344 |
| 90 | MP0002928_abnormal_bile_duct | 0.41587556 |
| 91 | MP0003077_abnormal_cell_cycle | 0.41462519 |
| 92 | MP0003699_abnormal_female_reproductive | 0.40827048 |
| 93 | MP0000230_abnormal_systemic_arterial | 0.40553535 |
| 94 | MP0001666_abnormal_nutrient_absorption | 0.40301297 |
| 95 | MP0010329_abnormal_lipoprotein_level | 0.40057283 |
| 96 | MP0006276_abnormal_autonomic_nervous | 0.39499864 |
| 97 | MP0000470_abnormal_stomach_morphology | 0.39049878 |
| 98 | MP0003936_abnormal_reproductive_system | 0.38247374 |
| 99 | MP0002734_abnormal_mechanical_nocicepti | 0.37880712 |
| 100 | MP0005391_vision/eye_phenotype | 0.37747960 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 7.95274266 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 6.17420783 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.17420783 |
| 4 | Tubulointerstitial nephritis (HP:0001970) | 5.82748598 |
| 5 | Chronic hepatic failure (HP:0100626) | 5.51457530 |
| 6 | Attenuation of retinal blood vessels (HP:0007843) | 5.22859252 |
| 7 | Resting tremor (HP:0002322) | 5.15801468 |
| 8 | Bony spicule pigmentary retinopathy (HP:0007737) | 5.14558574 |
| 9 | Asymmetric septal hypertrophy (HP:0001670) | 4.93663591 |
| 10 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.83582023 |
| 11 | Hyperkalemia (HP:0002153) | 4.80183803 |
| 12 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.76816957 |
| 13 | Abnormal ciliary motility (HP:0012262) | 4.73368638 |
| 14 | Abnormality of macular pigmentation (HP:0008002) | 4.49226111 |
| 15 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.48720423 |
| 16 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.48720423 |
| 17 | Infertility (HP:0000789) | 4.38434048 |
| 18 | Male infertility (HP:0003251) | 4.22124553 |
| 19 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.16246778 |
| 20 | Cone-rod dystrophy (HP:0000548) | 4.08729209 |
| 21 | Bell-shaped thorax (HP:0001591) | 4.02496494 |
| 22 | Nasal polyposis (HP:0100582) | 4.02347926 |
| 23 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.97475513 |
| 24 | Facial shape deformation (HP:0011334) | 3.70713118 |
| 25 | Potter facies (HP:0002009) | 3.70713118 |
| 26 | Hypoplasia of the thymus (HP:0000778) | 3.61082517 |
| 27 | Postural instability (HP:0002172) | 3.54693499 |
| 28 | Hypoalphalipoproteinemia (HP:0003233) | 3.45159935 |
| 29 | Hypoplastic ischia (HP:0003175) | 3.43749488 |
| 30 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.40574810 |
| 31 | Impulsivity (HP:0100710) | 3.40024991 |
| 32 | Menstrual irregularities (HP:0000858) | 3.26892503 |
| 33 | Progressive sensorineural hearing impairment (HP:0000408) | 3.25310391 |
| 34 | Abnormality of the nasal mucosa (HP:0000433) | 3.24618492 |
| 35 | Abnormal spermatogenesis (HP:0008669) | 3.16396790 |
| 36 | Renovascular hypertension (HP:0100817) | 3.11072301 |
| 37 | Abnormality of the ischium (HP:0003174) | 3.10331741 |
| 38 | Rhinitis (HP:0012384) | 3.06751175 |
| 39 | Enlarged epiphyses (HP:0010580) | 3.03489607 |
| 40 | Azoospermia (HP:0000027) | 3.03448649 |
| 41 | Truncal obesity (HP:0001956) | 2.92949939 |
| 42 | Amelogenesis imperfecta (HP:0000705) | 2.84163154 |
| 43 | Progressive cerebellar ataxia (HP:0002073) | 2.83943514 |
| 44 | Portal hypertension (HP:0001409) | 2.82178739 |
| 45 | Tubulointerstitial abnormality (HP:0001969) | 2.76844148 |
| 46 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.74918442 |
| 47 | Abnormal urine output (HP:0012590) | 2.68351171 |
| 48 | Nephronophthisis (HP:0000090) | 2.67228749 |
| 49 | Abnormality of potassium homeostasis (HP:0011042) | 2.59692373 |
| 50 | Abnormality of the hepatic vasculature (HP:0006707) | 2.59660185 |
| 51 | Generalized aminoaciduria (HP:0002909) | 2.53759737 |
| 52 | Abnormality of dental color (HP:0011073) | 2.53261562 |
| 53 | Stage 5 chronic kidney disease (HP:0003774) | 2.46658384 |
| 54 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.43439300 |
| 55 | Chronic bronchitis (HP:0004469) | 2.43218621 |
| 56 | Polydipsia (HP:0001959) | 2.42764179 |
| 57 | Abnormal drinking behavior (HP:0030082) | 2.42764179 |
| 58 | Renal dysplasia (HP:0000110) | 2.36757463 |
| 59 | Unilateral renal agenesis (HP:0000122) | 2.31471023 |
| 60 | Abnormality of renal excretion (HP:0011036) | 2.30261089 |
| 61 | Abnormality of the renal medulla (HP:0100957) | 2.29134479 |
| 62 | Hyperuricemia (HP:0002149) | 2.28327808 |
| 63 | Increased purine levels (HP:0004368) | 2.28327808 |
| 64 | Abnormality of the aortic arch (HP:0012303) | 2.22530056 |
| 65 | Pendular nystagmus (HP:0012043) | 2.19559165 |
| 66 | Abnormality of the costochondral junction (HP:0000919) | 2.17744563 |
| 67 | Ventricular tachycardia (HP:0004756) | 2.15502934 |
| 68 | Congenital malformation of the right heart (HP:0011723) | 2.14418064 |
| 69 | Double outlet right ventricle (HP:0001719) | 2.14418064 |
| 70 | Polyuria (HP:0000103) | 2.14405254 |
| 71 | Bronchiectasis (HP:0002110) | 2.14252726 |
| 72 | Epiphyseal dysplasia (HP:0002656) | 2.12900746 |
| 73 | Decreased central vision (HP:0007663) | 2.09349688 |
| 74 | Progressive hearing impairment (HP:0001730) | 2.08943404 |
| 75 | Recurrent pneumonia (HP:0006532) | 2.08423914 |
| 76 | Congenital sensorineural hearing impairment (HP:0008527) | 2.04015621 |
| 77 | Myokymia (HP:0002411) | 2.03435195 |
| 78 | Flattened epiphyses (HP:0003071) | 2.02159474 |
| 79 | Abnormality of the parathyroid morphology (HP:0011766) | 1.96793977 |
| 80 | Horizontal nystagmus (HP:0000666) | 1.95612965 |
| 81 | Optic nerve hypoplasia (HP:0000609) | 1.95163182 |
| 82 | Osteomalacia (HP:0002749) | 1.94494834 |
| 83 | Subcapsular cataract (HP:0000523) | 1.93579160 |
| 84 | Hypophosphatemic rickets (HP:0004912) | 1.90123903 |
| 85 | Widely patent fontanelles and sutures (HP:0004492) | 1.87472532 |
| 86 | Photophobia (HP:0000613) | 1.86317599 |
| 87 | Neoplasm of the heart (HP:0100544) | 1.85222400 |
| 88 | Bradycardia (HP:0001662) | 1.84459545 |
| 89 | Hypolipoproteinemia (HP:0010981) | 1.79626169 |
| 90 | Occipital encephalocele (HP:0002085) | 1.78350416 |
| 91 | Insulin resistance (HP:0000855) | 1.77689903 |
| 92 | Abnormality of chloride homeostasis (HP:0011422) | 1.75827833 |
| 93 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.72521692 |
| 94 | Hyponatremia (HP:0002902) | 1.67099556 |
| 95 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.66527186 |
| 96 | Absent epiphyses (HP:0010577) | 1.66527186 |
| 97 | Tetany (HP:0001281) | 1.66093636 |
| 98 | Recurrent corneal erosions (HP:0000495) | 1.63270773 |
| 99 | Accelerated skeletal maturation (HP:0005616) | 1.62282623 |
| 100 | Intellectual disability, moderate (HP:0002342) | 1.61702499 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 7.93317309 |
| 2 | TESK1 | 5.13371418 |
| 3 | DDR2 | 4.09994478 |
| 4 | STK38 | 4.08425457 |
| 5 | STK38L | 3.55855650 |
| 6 | INSRR | 3.30985646 |
| 7 | BRD4 | 3.30865212 |
| 8 | PNCK | 3.24368900 |
| 9 | PLK2 | 3.11678114 |
| 10 | PRKD3 | 3.03207862 |
| 11 | MAP4K2 | 2.62413816 |
| 12 | CAMK1G | 2.34112594 |
| 13 | NEK6 | 2.25518280 |
| 14 | MAPK15 | 2.23747187 |
| 15 | FRK | 2.10451376 |
| 16 | PIK3CG | 1.90136438 |
| 17 | MST1R | 1.87463348 |
| 18 | PDPK1 | 1.64045489 |
| 19 | PDK1 | 1.55556840 |
| 20 | MAP3K9 | 1.46638326 |
| 21 | PDK2 | 1.34991982 |
| 22 | PINK1 | 1.27510341 |
| 23 | DYRK1B | 1.22050174 |
| 24 | CDK12 | 1.18200799 |
| 25 | WNK1 | 1.16469253 |
| 26 | PTK2B | 1.14864987 |
| 27 | AKT3 | 1.05828846 |
| 28 | CDK7 | 0.96554630 |
| 29 | SIK2 | 0.95252711 |
| 30 | TYRO3 | 0.91501982 |
| 31 | MAP2K2 | 0.90235098 |
| 32 | RPS6KA2 | 0.75608428 |
| 33 | CAMK1 | 0.71845846 |
| 34 | WNK4 | 0.70870274 |
| 35 | PRKG2 | 0.68862645 |
| 36 | STK39 | 0.67352866 |
| 37 | CAMK1D | 0.65246794 |
| 38 | KSR2 | 0.64943446 |
| 39 | RPS6KA1 | 0.64708057 |
| 40 | PRKG1 | 0.63623330 |
| 41 | RIPK4 | 0.61710476 |
| 42 | UHMK1 | 0.60361351 |
| 43 | BRAF | 0.60293110 |
| 44 | SGK223 | 0.54556824 |
| 45 | SGK494 | 0.54556824 |
| 46 | MET | 0.50714417 |
| 47 | ROCK1 | 0.50218566 |
| 48 | CAMK4 | 0.47124108 |
| 49 | CDK3 | 0.47031692 |
| 50 | BMPR1B | 0.47026426 |
| 51 | PRKAA2 | 0.46929922 |
| 52 | MAP3K11 | 0.46790916 |
| 53 | GSK3B | 0.44893250 |
| 54 | CDK2 | 0.44047623 |
| 55 | MAPK1 | 0.43308776 |
| 56 | LATS2 | 0.40770080 |
| 57 | MAP3K2 | 0.39709692 |
| 58 | RPS6KL1 | 0.39514617 |
| 59 | RPS6KC1 | 0.39514617 |
| 60 | LATS1 | 0.37937801 |
| 61 | CDK1 | 0.37409931 |
| 62 | RPS6KA6 | 0.37066213 |
| 63 | MTOR | 0.36643311 |
| 64 | TIE1 | 0.35615696 |
| 65 | PRKCZ | 0.35149716 |
| 66 | MAP3K8 | 0.35082369 |
| 67 | SGK1 | 0.33136900 |
| 68 | MAPK8 | 0.32318876 |
| 69 | PRKCG | 0.32056482 |
| 70 | NEK2 | 0.31238384 |
| 71 | ZAK | 0.29076792 |
| 72 | ADRBK2 | 0.28924884 |
| 73 | NTRK3 | 0.27797578 |
| 74 | MARK1 | 0.27240838 |
| 75 | MAP3K1 | 0.25620806 |
| 76 | CHEK1 | 0.25069584 |
| 77 | CDK4 | 0.24904808 |
| 78 | PRKCB | 0.24843492 |
| 79 | MARK3 | 0.23852490 |
| 80 | MAPK14 | 0.21849136 |
| 81 | MUSK | 0.19055401 |
| 82 | OXSR1 | 0.18915254 |
| 83 | JAK3 | 0.18776739 |
| 84 | RPS6KA5 | 0.17579951 |
| 85 | MAP3K4 | 0.17261468 |
| 86 | PKN1 | 0.17046754 |
| 87 | PRKCE | 0.15679650 |
| 88 | PRKACA | 0.14512758 |
| 89 | SGK2 | 0.14419466 |
| 90 | MAPK10 | 0.12814281 |
| 91 | AKT1 | 0.12765998 |
| 92 | TLK1 | 0.12310664 |
| 93 | BRSK1 | 0.12250693 |
| 94 | BLK | 0.12191578 |
| 95 | MAP2K7 | 0.11847853 |
| 96 | CAMK2A | 0.11075140 |
| 97 | PRKCA | 0.10024658 |
| 98 | DYRK3 | 0.09881354 |
| 99 | MAPK11 | 0.09272948 |
| 100 | EPHA4 | 0.09222506 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 7.56348260 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 6.88932520 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.93262706 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.99623323 |
| 5 | Fatty acid degradation_Homo sapiens_hsa00071 | 2.25853172 |
| 6 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 2.10850846 |
| 7 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.01308697 |
| 8 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.88882002 |
| 9 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.83579129 |
| 10 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.80261218 |
| 11 | Taste transduction_Homo sapiens_hsa04742 | 1.74203674 |
| 12 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.57662318 |
| 13 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.55823053 |
| 14 | RNA transport_Homo sapiens_hsa03013 | 1.41722490 |
| 15 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.31823129 |
| 16 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.26263910 |
| 17 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.24040016 |
| 18 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.23715987 |
| 19 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.20945671 |
| 20 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.18249096 |
| 21 | Phototransduction_Homo sapiens_hsa04744 | 1.15050808 |
| 22 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.14913741 |
| 23 | ABC transporters_Homo sapiens_hsa02010 | 1.13840866 |
| 24 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.04517993 |
| 25 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.04072697 |
| 26 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.04005219 |
| 27 | Nicotine addiction_Homo sapiens_hsa05033 | 1.01520320 |
| 28 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.98863036 |
| 29 | Circadian entrainment_Homo sapiens_hsa04713 | 0.97992570 |
| 30 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.95489525 |
| 31 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.94970343 |
| 32 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.93857692 |
| 33 | Morphine addiction_Homo sapiens_hsa05032 | 0.92595530 |
| 34 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.90981382 |
| 35 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.90745936 |
| 36 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.89756985 |
| 37 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.88052331 |
| 38 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.86421293 |
| 39 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.84194636 |
| 40 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.81829437 |
| 41 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.81478340 |
| 42 | Salivary secretion_Homo sapiens_hsa04970 | 0.80985371 |
| 43 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.79480933 |
| 44 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.76796992 |
| 45 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.74913820 |
| 46 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.71759655 |
| 47 | Allograft rejection_Homo sapiens_hsa05330 | 0.71159980 |
| 48 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.70174412 |
| 49 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.69482956 |
| 50 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.68633067 |
| 51 | Endocytosis_Homo sapiens_hsa04144 | 0.67943114 |
| 52 | Bile secretion_Homo sapiens_hsa04976 | 0.67873249 |
| 53 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.64463366 |
| 54 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.62980145 |
| 55 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.61618748 |
| 56 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.61335467 |
| 57 | GABAergic synapse_Homo sapiens_hsa04727 | 0.58268548 |
| 58 | Purine metabolism_Homo sapiens_hsa00230 | 0.56560626 |
| 59 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.56019474 |
| 60 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.53826412 |
| 61 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.52591829 |
| 62 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.51321377 |
| 63 | Retinol metabolism_Homo sapiens_hsa00830 | 0.51155800 |
| 64 | Renin secretion_Homo sapiens_hsa04924 | 0.50906153 |
| 65 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.50437758 |
| 66 | Viral myocarditis_Homo sapiens_hsa05416 | 0.50079877 |
| 67 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.49715789 |
| 68 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.48906057 |
| 69 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.48904534 |
| 70 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.47714822 |
| 71 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.43488462 |
| 72 | Influenza A_Homo sapiens_hsa05164 | 0.42721763 |
| 73 | Tight junction_Homo sapiens_hsa04530 | 0.42419983 |
| 74 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.41668542 |
| 75 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.41071097 |
| 76 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.39393446 |
| 77 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.38924959 |
| 78 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.38891008 |
| 79 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.37701333 |
| 80 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.37171989 |
| 81 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.34263633 |
| 82 | Insulin secretion_Homo sapiens_hsa04911 | 0.34054944 |
| 83 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.31668429 |
| 84 | Mineral absorption_Homo sapiens_hsa04978 | 0.30870143 |
| 85 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.30280741 |
| 86 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.30167207 |
| 87 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.26626730 |
| 88 | Basal transcription factors_Homo sapiens_hsa03022 | 0.26053226 |
| 89 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.25513496 |
| 90 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.24850478 |
| 91 | Alcoholism_Homo sapiens_hsa05034 | 0.24651338 |
| 92 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.22701818 |
| 93 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.22613868 |
| 94 | Gap junction_Homo sapiens_hsa04540 | 0.22432965 |
| 95 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.21850350 |
| 96 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.21429623 |
| 97 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.21049266 |
| 98 | Metabolic pathways_Homo sapiens_hsa01100 | 0.20785538 |
| 99 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.19693488 |
| 100 | Peroxisome_Homo sapiens_hsa04146 | 0.19693288 |

