

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | chromosome condensation (GO:0030261) | 9.60392102 |
| 2 | DNA packaging (GO:0006323) | 9.21945454 |
| 3 | sperm capacitation (GO:0048240) | 8.85622741 |
| 4 | response to pheromone (GO:0019236) | 8.62723565 |
| 5 | plasma membrane fusion (GO:0045026) | 8.43714006 |
| 6 | microtubule depolymerization (GO:0007019) | 8.18707688 |
| 7 | spermatid development (GO:0007286) | 8.18169049 |
| 8 | rRNA methylation (GO:0031167) | 7.96546862 |
| 9 | spermatid nucleus differentiation (GO:0007289) | 7.88484564 |
| 10 | single strand break repair (GO:0000012) | 7.86601348 |
| 11 | sperm-egg recognition (GO:0035036) | 7.84014723 |
| 12 | binding of sperm to zona pellucida (GO:0007339) | 7.55957227 |
| 13 | multicellular organism reproduction (GO:0032504) | 7.44044882 |
| 14 | rRNA modification (GO:0000154) | 7.12609637 |
| 15 | reproduction (GO:0000003) | 6.98595407 |
| 16 | protein polyglutamylation (GO:0018095) | 6.95128442 |
| 17 | sexual reproduction (GO:0019953) | 6.71799057 |
| 18 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.46417673 |
| 19 | microtubule polymerization or depolymerization (GO:0031109) | 6.42923084 |
| 20 | negative regulation of inclusion body assembly (GO:0090084) | 6.42729148 |
| 21 | cell-cell recognition (GO:0009988) | 6.41615579 |
| 22 | calcium ion-dependent exocytosis (GO:0017156) | 6.33182585 |
| 23 | spermatogenesis (GO:0007283) | 6.29636756 |
| 24 | male gamete generation (GO:0048232) | 6.27486336 |
| 25 | phosphatidylethanolamine metabolic process (GO:0046337) | 6.05245483 |
| 26 | microtubule severing (GO:0051013) | 5.78274635 |
| 27 | gamete generation (GO:0007276) | 5.77157742 |
| 28 | protein targeting to Golgi (GO:0000042) | 5.63119372 |
| 29 | axonemal dynein complex assembly (GO:0070286) | 5.63008473 |
| 30 | cellular ketone body metabolic process (GO:0046950) | 5.58373677 |
| 31 | establishment of protein localization to Golgi (GO:0072600) | 5.36591656 |
| 32 | single fertilization (GO:0007338) | 5.17186540 |
| 33 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.10690426 |
| 34 | regulation of cilium movement (GO:0003352) | 5.09527112 |
| 35 | ketone body metabolic process (GO:1902224) | 4.93204343 |
| 36 | centriole replication (GO:0007099) | 4.87119129 |
| 37 | germ cell development (GO:0007281) | 4.76040983 |
| 38 | motile cilium assembly (GO:0044458) | 4.70233905 |
| 39 | regulation of centriole replication (GO:0046599) | 4.68477142 |
| 40 | RNA destabilization (GO:0050779) | 4.68120234 |
| 41 | multicellular organismal reproductive process (GO:0048609) | 4.61121332 |
| 42 | regulation of inclusion body assembly (GO:0090083) | 4.60488561 |
| 43 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.45265856 |
| 44 | centriole assembly (GO:0098534) | 4.44485181 |
| 45 | male meiosis I (GO:0007141) | 4.36112029 |
| 46 | fertilization (GO:0009566) | 4.35694849 |
| 47 | chromatin silencing (GO:0006342) | 4.31852973 |
| 48 | polyamine biosynthetic process (GO:0006596) | 4.27358707 |
| 49 | nucleus organization (GO:0006997) | 4.22021929 |
| 50 | positive regulation of Rab GTPase activity (GO:0032851) | 4.21459487 |
| 51 | regulation of Rab GTPase activity (GO:0032313) | 4.21459487 |
| 52 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.17525290 |
| 53 | piRNA metabolic process (GO:0034587) | 4.14035798 |
| 54 | protein localization to Golgi apparatus (GO:0034067) | 4.07792681 |
| 55 | organic cation transport (GO:0015695) | 4.05804532 |
| 56 | negative regulation of retinoic acid receptor signaling pathway (GO:0048387) | 3.95525884 |
| 57 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.81559188 |
| 58 | seminiferous tubule development (GO:0072520) | 3.80424627 |
| 59 | cell wall macromolecule catabolic process (GO:0016998) | 3.78570894 |
| 60 | coenzyme catabolic process (GO:0009109) | 3.72107868 |
| 61 | DNA methylation involved in gamete generation (GO:0043046) | 3.65101624 |
| 62 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 3.63128539 |
| 63 | epithelial cilium movement (GO:0003351) | 3.61655901 |
| 64 | cell wall macromolecule metabolic process (GO:0044036) | 3.57770480 |
| 65 | male meiosis (GO:0007140) | 3.56309109 |
| 66 | regulation of microtubule-based movement (GO:0060632) | 3.55554627 |
| 67 | gonadal mesoderm development (GO:0007506) | 3.53069550 |
| 68 | histone exchange (GO:0043486) | 3.50996318 |
| 69 | glycerol ether metabolic process (GO:0006662) | 3.50973877 |
| 70 | response to acidic pH (GO:0010447) | 3.48007278 |
| 71 | histone H3-K9 demethylation (GO:0033169) | 3.45675067 |
| 72 | meiosis I (GO:0007127) | 3.42370664 |
| 73 | cellular response to pH (GO:0071467) | 3.37727088 |
| 74 | regulation of retinoic acid receptor signaling pathway (GO:0048385) | 3.36297278 |
| 75 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.34230790 |
| 76 | chaperone-mediated protein complex assembly (GO:0051131) | 3.23334793 |
| 77 | ether metabolic process (GO:0018904) | 3.22411578 |
| 78 | cilium movement (GO:0003341) | 3.16033667 |
| 79 | tooth mineralization (GO:0034505) | 3.10568155 |
| 80 | multicellular organismal development (GO:0007275) | 3.05160402 |
| 81 | somite rostral/caudal axis specification (GO:0032525) | 3.03417347 |
| 82 | multicellular organismal movement (GO:0050879) | 2.98854005 |
| 83 | musculoskeletal movement (GO:0050881) | 2.98854005 |
| 84 | DNA conformation change (GO:0071103) | 2.98425319 |
| 85 | membrane protein intracellular domain proteolysis (GO:0031293) | 2.98330428 |
| 86 | mitochondrial fission (GO:0000266) | 2.97517479 |
| 87 | homeostasis of number of cells within a tissue (GO:0048873) | 2.96263977 |
| 88 | regulation of meiosis I (GO:0060631) | 2.94007546 |
| 89 | cellular biogenic amine biosynthetic process (GO:0042401) | 2.92550719 |
| 90 | ribosome assembly (GO:0042255) | 2.92287240 |
| 91 | protein depolymerization (GO:0051261) | 2.91333009 |
| 92 | peptidyl-threonine dephosphorylation (GO:0035970) | 2.90568663 |
| 93 | nucleosome disassembly (GO:0006337) | 2.89754989 |
| 94 | protein-DNA complex disassembly (GO:0032986) | 2.89754989 |
| 95 | negative regulation of gene expression, epigenetic (GO:0045814) | 2.88200095 |
| 96 | cell recognition (GO:0008037) | 2.83445262 |
| 97 | peptidyl-proline hydroxylation (GO:0019511) | 2.83113793 |
| 98 | acrosome reaction (GO:0007340) | 11.8366526 |
| 99 | sperm motility (GO:0030317) | 11.3253164 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 11.1519679 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 6.01458222 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 5.86658692 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.31729374 |
| 4 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 3.15549453 |
| 5 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.62300185 |
| 6 | ERA_21632823_ChIP-Seq_H3396_Human | 2.39116205 |
| 7 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 2.33891430 |
| 8 | RAC3_21632823_ChIP-Seq_H3396_Human | 2.17922519 |
| 9 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.13995842 |
| 10 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.13995842 |
| 11 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.11654148 |
| 12 | NANOG_20526341_ChIP-Seq_ESCs_Human | 2.08733762 |
| 13 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.02421653 |
| 14 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.02421653 |
| 15 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 2.01151904 |
| 16 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.98271908 |
| 17 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.97719692 |
| 18 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.90613971 |
| 19 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.89528470 |
| 20 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.89430228 |
| 21 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.87445919 |
| 22 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.85671683 |
| 23 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.83129585 |
| 24 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.80815182 |
| 25 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.79745978 |
| 26 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.78845625 |
| 27 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.78508686 |
| 28 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.74896066 |
| 29 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.72836147 |
| 30 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.71501600 |
| 31 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.69873547 |
| 32 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.68858268 |
| 33 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.67596645 |
| 34 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.66673406 |
| 35 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.65170655 |
| 36 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.64264280 |
| 37 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.63762429 |
| 38 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.62248404 |
| 39 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.60943261 |
| 40 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.57445773 |
| 41 | P68_20966046_ChIP-Seq_HELA_Human | 1.57399789 |
| 42 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.54072002 |
| 43 | FUS_26573619_Chip-Seq_HEK293_Human | 1.53338182 |
| 44 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.53321701 |
| 45 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.51404163 |
| 46 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.50857051 |
| 47 | P300_27268052_Chip-Seq_Bcells_Human | 1.49718633 |
| 48 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.49166140 |
| 49 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.46870288 |
| 50 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.46629555 |
| 51 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.44108920 |
| 52 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.40376608 |
| 53 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.40208284 |
| 54 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.37297248 |
| 55 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.34687395 |
| 56 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.34138136 |
| 57 | NFYB_21822215_ChIP-Seq_K562_Human | 1.33838451 |
| 58 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.32654890 |
| 59 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.32603010 |
| 60 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.31257781 |
| 61 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.30245448 |
| 62 | VDR_22108803_ChIP-Seq_LS180_Human | 1.29114384 |
| 63 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.28864145 |
| 64 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.27865678 |
| 65 | SA1_27219007_Chip-Seq_Bcells_Human | 1.26587256 |
| 66 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.25952839 |
| 67 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.25577116 |
| 68 | AR_25329375_ChIP-Seq_VCAP_Human | 1.24907847 |
| 69 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.24498034 |
| 70 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.24300856 |
| 71 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.24233498 |
| 72 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.23834823 |
| 73 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.22122672 |
| 74 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.21239625 |
| 75 | TBL1_22424771_ChIP-Seq_293T_Human | 1.18655614 |
| 76 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.17426668 |
| 77 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.16855723 |
| 78 | NCOR_22424771_ChIP-Seq_293T_Human | 1.15567823 |
| 79 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.14318673 |
| 80 | NFYA_21822215_ChIP-Seq_K562_Human | 1.11570563 |
| 81 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.10076273 |
| 82 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.10018825 |
| 83 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.10018825 |
| 84 | P300_19829295_ChIP-Seq_ESCs_Human | 1.08555623 |
| 85 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 1.08045134 |
| 86 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.07958093 |
| 87 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.07583050 |
| 88 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.05967586 |
| 89 | FOXH1_21741376_ChIP-Seq_ESCs_Human | 1.05105934 |
| 90 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.04993684 |
| 91 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.02459273 |
| 92 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.02027929 |
| 93 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.01696280 |
| 94 | OCT4_19829295_ChIP-Seq_ESCs_Human | 0.99245237 |
| 95 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 0.99215369 |
| 96 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 0.98504576 |
| 97 | SMRT_27268052_Chip-Seq_Bcells_Human | 0.98069555 |
| 98 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 0.97490797 |
| 99 | SOX2_21211035_ChIP-Seq_LN229_Human | 0.97370479 |
| 100 | CSB_26484114_Chip-Seq_FIBROBLAST_Human | 0.96249413 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005670_abnormal_white_adipose | 5.96643431 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 4.65787497 |
| 3 | MP0003878_abnormal_ear_physiology | 4.65787497 |
| 4 | MP0003698_abnormal_male_reproductive | 4.59551183 |
| 5 | MP0001929_abnormal_gametogenesis | 4.23909444 |
| 6 | MP0003718_maternal_effect | 3.47888385 |
| 7 | MP0002161_abnormal_fertility/fecundity | 2.69836885 |
| 8 | MP0001348_abnormal_lacrimal_gland | 2.31848165 |
| 9 | MP0002210_abnormal_sex_determination | 2.27780766 |
| 10 | MP0003011_delayed_dark_adaptation | 2.15320485 |
| 11 | MP0003646_muscle_fatigue | 2.05959994 |
| 12 | MP0008877_abnormal_DNA_methylation | 2.04729139 |
| 13 | MP0000678_abnormal_parathyroid_gland | 2.02342408 |
| 14 | MP0005410_abnormal_fertilization | 11.9040631 |
| 15 | MP0001145_abnormal_male_reproductive | 1.85836868 |
| 16 | MP0000653_abnormal_sex_gland | 1.75067720 |
| 17 | MP0002132_abnormal_respiratory_system | 1.55366067 |
| 18 | MP0005395_other_phenotype | 1.48153319 |
| 19 | MP0005451_abnormal_body_composition | 1.46594345 |
| 20 | MP0005310_abnormal_salivary_gland | 1.37707258 |
| 21 | MP0005423_abnormal_somatic_nervous | 1.31767303 |
| 22 | MP0005379_endocrine/exocrine_gland_phen | 1.29125611 |
| 23 | MP0002138_abnormal_hepatobiliary_system | 1.26682281 |
| 24 | MP0001968_abnormal_touch/_nociception | 1.25570289 |
| 25 | MP0001485_abnormal_pinna_reflex | 1.23059396 |
| 26 | MP0001765_abnormal_ion_homeostasis | 1.18711481 |
| 27 | MP0004957_abnormal_blastocyst_morpholog | 1.14294207 |
| 28 | MP0005666_abnormal_adipose_tissue | 1.13215777 |
| 29 | MP0003077_abnormal_cell_cycle | 1.12491712 |
| 30 | MP0002234_abnormal_pharynx_morphology | 1.12085512 |
| 31 | MP0002282_abnormal_trachea_morphology | 1.08739247 |
| 32 | MP0001486_abnormal_startle_reflex | 1.07213868 |
| 33 | MP0004233_abnormal_muscle_weight | 1.06421443 |
| 34 | MP0005083_abnormal_biliary_tract | 1.05564898 |
| 35 | MP0002249_abnormal_larynx_morphology | 1.03016411 |
| 36 | MP0002229_neurodegeneration | 0.98682771 |
| 37 | MP0003693_abnormal_embryo_hatching | 0.98550252 |
| 38 | MP0004742_abnormal_vestibular_system | 0.96710328 |
| 39 | MP0002735_abnormal_chemical_nociception | 0.96534107 |
| 40 | MP0002127_abnormal_cardiovascular_syste | 0.94872548 |
| 41 | MP0005551_abnormal_eye_electrophysiolog | 0.91904385 |
| 42 | MP0005636_abnormal_mineral_homeostasis | 0.91477456 |
| 43 | MP0005408_hypopigmentation | 0.87823844 |
| 44 | MP0008961_abnormal_basal_metabolism | 0.87608982 |
| 45 | MP0001963_abnormal_hearing_physiology | 0.85986370 |
| 46 | MP0009053_abnormal_anal_canal | 0.84400729 |
| 47 | MP0009115_abnormal_fat_cell | 0.83228553 |
| 48 | MP0000026_abnormal_inner_ear | 0.79289686 |
| 49 | MP0008995_early_reproductive_senescence | 0.77243073 |
| 50 | MP0001666_abnormal_nutrient_absorption | 0.74981094 |
| 51 | MP0005084_abnormal_gallbladder_morpholo | 0.74202511 |
| 52 | MP0003879_abnormal_hair_cell | 0.73968160 |
| 53 | MP0000534_abnormal_ureter_morphology | 0.73539929 |
| 54 | MP0004510_myositis | 0.73109234 |
| 55 | MP0003699_abnormal_female_reproductive | 0.73008853 |
| 56 | MP0005375_adipose_tissue_phenotype | 0.68539073 |
| 57 | MP0002822_catalepsy | 0.68393845 |
| 58 | MP0004085_abnormal_heartbeat | 0.64506482 |
| 59 | MP0005647_abnormal_sex_gland | 0.62744684 |
| 60 | MP0009697_abnormal_copulation | 0.62293023 |
| 61 | MP0000955_abnormal_spinal_cord | 0.61635869 |
| 62 | MP0003936_abnormal_reproductive_system | 0.60943613 |
| 63 | MP0005253_abnormal_eye_physiology | 0.60527737 |
| 64 | MP0000015_abnormal_ear_pigmentation | 0.58672489 |
| 65 | MP0004782_abnormal_surfactant_physiolog | 0.56471921 |
| 66 | MP0006292_abnormal_olfactory_placode | 0.56045197 |
| 67 | MP0003119_abnormal_digestive_system | 0.54709819 |
| 68 | MP0002067_abnormal_sensory_capabilities | 0.54438075 |
| 69 | MP0006035_abnormal_mitochondrial_morpho | 0.53754534 |
| 70 | MP0002733_abnormal_thermal_nociception | 0.51775610 |
| 71 | MP0002557_abnormal_social/conspecific_i | 0.51381848 |
| 72 | MP0001764_abnormal_homeostasis | 0.50543985 |
| 73 | MP0005248_abnormal_Harderian_gland | 0.50411932 |
| 74 | MP0000467_abnormal_esophagus_morphology | 0.49481161 |
| 75 | MP0005332_abnormal_amino_acid | 0.49343014 |
| 76 | MP0000470_abnormal_stomach_morphology | 0.49298274 |
| 77 | MP0001440_abnormal_grooming_behavior | 0.47133652 |
| 78 | MP0004019_abnormal_vitamin_homeostasis | 0.47127572 |
| 79 | MP0003787_abnormal_imprinting | 0.46888636 |
| 80 | MP0002272_abnormal_nervous_system | 0.45866427 |
| 81 | MP0004859_abnormal_synaptic_plasticity | 0.45036207 |
| 82 | MP0000516_abnormal_urinary_system | 0.44682511 |
| 83 | MP0005367_renal/urinary_system_phenotyp | 0.44682511 |
| 84 | MP0006036_abnormal_mitochondrial_physio | 0.44098305 |
| 85 | MP0008058_abnormal_DNA_repair | 0.43373067 |
| 86 | MP0001905_abnormal_dopamine_level | 0.43243488 |
| 87 | MP0005365_abnormal_bile_salt | 0.42827149 |
| 88 | MP0000681_abnormal_thyroid_gland | 0.42541713 |
| 89 | MP0004484_altered_response_of | 0.40828026 |
| 90 | MP0000049_abnormal_middle_ear | 0.40693755 |
| 91 | MP0002085_abnormal_embryonic_tissue | 0.40222252 |
| 92 | MP0001119_abnormal_female_reproductive | 0.39684265 |
| 93 | MP0010386_abnormal_urinary_bladder | 0.38798701 |
| 94 | MP0002254_reproductive_system_inflammat | 0.38606064 |
| 95 | MP0001879_abnormal_lymphatic_vessel | 0.38399761 |
| 96 | MP0001501_abnormal_sleep_pattern | 0.37021357 |
| 97 | MP0008770_decreased_survivor_rate | 0.36443962 |
| 98 | MP0002734_abnormal_mechanical_nocicepti | 0.36244948 |
| 99 | MP0003136_yellow_coat_color | 0.35315054 |
| 100 | MP0005167_abnormal_blood-brain_barrier | 0.34588297 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 7.96075236 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 5.61920066 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.61920066 |
| 4 | Attenuation of retinal blood vessels (HP:0007843) | 5.12060910 |
| 5 | Azoospermia (HP:0000027) | 5.04883397 |
| 6 | Tubulointerstitial nephritis (HP:0001970) | 4.94977002 |
| 7 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.94630448 |
| 8 | Chronic hepatic failure (HP:0100626) | 4.67879063 |
| 9 | Abnormal spermatogenesis (HP:0008669) | 4.62723282 |
| 10 | Abnormal ciliary motility (HP:0012262) | 4.41714813 |
| 11 | Infertility (HP:0000789) | 4.38588886 |
| 12 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.37909468 |
| 13 | Asymmetric septal hypertrophy (HP:0001670) | 4.23306607 |
| 14 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.23081671 |
| 15 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.20685364 |
| 16 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.20685364 |
| 17 | Hyperkalemia (HP:0002153) | 4.18742888 |
| 18 | Resting tremor (HP:0002322) | 4.18028930 |
| 19 | Male infertility (HP:0003251) | 4.13762556 |
| 20 | Bell-shaped thorax (HP:0001591) | 3.93968213 |
| 21 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.92698504 |
| 22 | Abnormality of macular pigmentation (HP:0008002) | 3.90822779 |
| 23 | Cone-rod dystrophy (HP:0000548) | 3.88442395 |
| 24 | Impulsivity (HP:0100710) | 3.84763254 |
| 25 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.76647514 |
| 26 | Potter facies (HP:0002009) | 3.61693421 |
| 27 | Facial shape deformation (HP:0011334) | 3.61693421 |
| 28 | Nasal polyposis (HP:0100582) | 3.46028335 |
| 29 | Insulin-resistant diabetes mellitus (HP:0000831) | 3.45513422 |
| 30 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.29039646 |
| 31 | Amelogenesis imperfecta (HP:0000705) | 3.12649579 |
| 32 | Abnormality of the aortic arch (HP:0012303) | 3.08625825 |
| 33 | Generalized aminoaciduria (HP:0002909) | 2.99687216 |
| 34 | Enlarged epiphyses (HP:0010580) | 2.99498786 |
| 35 | Tetany (HP:0001281) | 2.97496628 |
| 36 | Unilateral renal agenesis (HP:0000122) | 2.95966564 |
| 37 | Congenital malformation of the right heart (HP:0011723) | 2.95273265 |
| 38 | Double outlet right ventricle (HP:0001719) | 2.95273265 |
| 39 | Progressive sensorineural hearing impairment (HP:0000408) | 2.93745016 |
| 40 | Abnormal urine output (HP:0012590) | 2.88159600 |
| 41 | Postural instability (HP:0002172) | 2.86195515 |
| 42 | Abnormality of the parathyroid morphology (HP:0011766) | 2.86111319 |
| 43 | Hypoplastic ischia (HP:0003175) | 2.81769579 |
| 44 | Hypoalphalipoproteinemia (HP:0003233) | 2.75504681 |
| 45 | Hypoplasia of the thymus (HP:0000778) | 2.73197787 |
| 46 | Abnormal drinking behavior (HP:0030082) | 2.68430406 |
| 47 | Polydipsia (HP:0001959) | 2.68430406 |
| 48 | Abnormality of the nasal mucosa (HP:0000433) | 2.66928246 |
| 49 | Rhinitis (HP:0012384) | 2.65695749 |
| 50 | Abnormality of potassium homeostasis (HP:0011042) | 2.60285423 |
| 51 | Abnormality of dental color (HP:0011073) | 2.46411851 |
| 52 | Abnormality of renal excretion (HP:0011036) | 2.45232282 |
| 53 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.44729285 |
| 54 | Osteomalacia (HP:0002749) | 2.42509632 |
| 55 | Abnormality of the ischium (HP:0003174) | 2.39867518 |
| 56 | Stage 5 chronic kidney disease (HP:0003774) | 2.39704307 |
| 57 | Polyuria (HP:0000103) | 2.34799080 |
| 58 | Glycosuria (HP:0003076) | 2.31298441 |
| 59 | Abnormality of urine glucose concentration (HP:0011016) | 2.31298441 |
| 60 | Renal dysplasia (HP:0000110) | 2.28182791 |
| 61 | Nephronophthisis (HP:0000090) | 2.21482164 |
| 62 | Truncal obesity (HP:0001956) | 2.20935052 |
| 63 | Tubulointerstitial abnormality (HP:0001969) | 2.20339946 |
| 64 | Abnormal ventriculo-arterial connection (HP:0011563) | 2.19376788 |
| 65 | Transposition of the great arteries (HP:0001669) | 2.19376788 |
| 66 | Abnormal connection of the cardiac segments (HP:0011545) | 2.19376788 |
| 67 | Pendular nystagmus (HP:0012043) | 2.17082154 |
| 68 | Chronic bronchitis (HP:0004469) | 2.15138431 |
| 69 | Renovascular hypertension (HP:0100817) | 2.14962605 |
| 70 | Widely patent fontanelles and sutures (HP:0004492) | 2.10450587 |
| 71 | Spastic paraparesis (HP:0002313) | 2.09814062 |
| 72 | Progressive hearing impairment (HP:0001730) | 2.09659879 |
| 73 | Renal Fanconi syndrome (HP:0001994) | 2.08805645 |
| 74 | Subcapsular cataract (HP:0000523) | 2.01865521 |
| 75 | Portal hypertension (HP:0001409) | 2.01245790 |
| 76 | Hypophosphatemic rickets (HP:0004912) | 2.01208242 |
| 77 | Flattened epiphyses (HP:0003071) | 1.96814765 |
| 78 | Increased purine levels (HP:0004368) | 1.95897908 |
| 79 | Hyperuricemia (HP:0002149) | 1.95897908 |
| 80 | Upper limb muscle weakness (HP:0003484) | 1.95683286 |
| 81 | Abnormality of the costochondral junction (HP:0000919) | 1.94399697 |
| 82 | Horizontal nystagmus (HP:0000666) | 1.93287793 |
| 83 | Seborrheic dermatitis (HP:0001051) | 1.90946539 |
| 84 | Sensory axonal neuropathy (HP:0003390) | 1.90068056 |
| 85 | Insulin resistance (HP:0000855) | 1.88982842 |
| 86 | Hyponatremia (HP:0002902) | 1.88975152 |
| 87 | Decreased central vision (HP:0007663) | 1.88792753 |
| 88 | Progressive cerebellar ataxia (HP:0002073) | 1.88714870 |
| 89 | Hypoparathyroidism (HP:0000829) | 1.86580300 |
| 90 | Aplasia/Hypoplasia of the fovea (HP:0008060) | 1.86423737 |
| 91 | Hypoplasia of the fovea (HP:0007750) | 1.86423737 |
| 92 | Abnormality of the renal medulla (HP:0100957) | 1.85272191 |
| 93 | Abnormality of the hepatic vasculature (HP:0006707) | 1.83917669 |
| 94 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.76492507 |
| 95 | Amblyopia (HP:0000646) | 1.76473417 |
| 96 | Photophobia (HP:0000613) | 1.75677011 |
| 97 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 1.73006367 |
| 98 | Bronchiectasis (HP:0002110) | 1.72727515 |
| 99 | Hypokalemia (HP:0002900) | 1.71578594 |
| 100 | Bilateral microphthalmos (HP:0007633) | 1.69472330 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 8.05528727 |
| 2 | TESK1 | 5.20432957 |
| 3 | DDR2 | 3.66063319 |
| 4 | INSRR | 3.45906933 |
| 5 | PRKD3 | 3.41515204 |
| 6 | MAP4K2 | 3.08334428 |
| 7 | PLK2 | 3.05541557 |
| 8 | PNCK | 2.73784685 |
| 9 | STK38 | 2.69997164 |
| 10 | BRD4 | 2.59597092 |
| 11 | PBK | 2.53100526 |
| 12 | CAMK1G | 2.40053539 |
| 13 | STK38L | 2.30236118 |
| 14 | WNK4 | 2.05299031 |
| 15 | AKT3 | 1.87931420 |
| 16 | STK39 | 1.80707832 |
| 17 | MAPK15 | 1.79119160 |
| 18 | CDK7 | 1.52885221 |
| 19 | NEK6 | 1.51868432 |
| 20 | WNK1 | 1.43415341 |
| 21 | PDPK1 | 1.31930287 |
| 22 | CAMK1D | 1.26938295 |
| 23 | PDK1 | 1.23912612 |
| 24 | CDK12 | 1.20466637 |
| 25 | EIF2AK1 | 1.20074736 |
| 26 | MAP3K9 | 1.18489638 |
| 27 | MAP3K8 | 1.15018008 |
| 28 | EIF2AK3 | 1.14949157 |
| 29 | ZAK | 1.12807327 |
| 30 | KSR2 | 1.07785553 |
| 31 | MST1R | 1.07651039 |
| 32 | PIK3CG | 1.05724408 |
| 33 | DYRK1B | 0.97607892 |
| 34 | PINK1 | 0.95235964 |
| 35 | OXSR1 | 0.92844013 |
| 36 | TESK2 | 0.91262820 |
| 37 | SRPK1 | 0.82146281 |
| 38 | PDK2 | 0.81576214 |
| 39 | PTK2B | 0.80159463 |
| 40 | MAP3K2 | 0.75631132 |
| 41 | VRK2 | 0.73513607 |
| 42 | TYRO3 | 0.70761018 |
| 43 | BRAF | 0.64291704 |
| 44 | MAP2K2 | 0.63875921 |
| 45 | LMTK2 | 0.63872134 |
| 46 | LATS2 | 0.60067332 |
| 47 | RPS6KA1 | 0.58073929 |
| 48 | CAMK1 | 0.57261971 |
| 49 | PRKG1 | 0.52270872 |
| 50 | PRKAA2 | 0.52049944 |
| 51 | PRKG2 | 0.51968931 |
| 52 | STK16 | 0.50482345 |
| 53 | FER | 0.50421993 |
| 54 | CHEK1 | 0.49983081 |
| 55 | MUSK | 0.49047425 |
| 56 | CDK2 | 0.48917691 |
| 57 | CDK1 | 0.47603240 |
| 58 | TAF1 | 0.43835871 |
| 59 | GSK3B | 0.43712823 |
| 60 | MTOR | 0.43416206 |
| 61 | MAPK1 | 0.43061001 |
| 62 | PKN1 | 0.41761358 |
| 63 | RPS6KA2 | 0.38724508 |
| 64 | NEK2 | 0.37700217 |
| 65 | AURKA | 0.36689552 |
| 66 | ICK | 0.36444162 |
| 67 | ACVR1B | 0.36131065 |
| 68 | PRKCZ | 0.36034322 |
| 69 | PRKCG | 0.34957342 |
| 70 | TNK2 | 0.34942285 |
| 71 | UHMK1 | 0.34540091 |
| 72 | DYRK2 | 0.33647256 |
| 73 | PAK2 | 0.33212702 |
| 74 | CDK4 | 0.30651697 |
| 75 | CAMK4 | 0.30208944 |
| 76 | ROCK1 | 0.30040715 |
| 77 | MAPK14 | 0.25620929 |
| 78 | MAPK8 | 0.25605601 |
| 79 | RPS6KL1 | 0.24806727 |
| 80 | RPS6KC1 | 0.24806727 |
| 81 | KDR | 0.24677049 |
| 82 | MAP3K1 | 0.24542044 |
| 83 | RPS6KA6 | 0.24018258 |
| 84 | BRSK1 | 0.23962177 |
| 85 | CDK3 | 0.23061578 |
| 86 | BMPR1B | 0.22921560 |
| 87 | VRK1 | 0.22405829 |
| 88 | MKNK2 | 0.20810433 |
| 89 | MAPK10 | 0.19553299 |
| 90 | DYRK3 | 0.19538012 |
| 91 | GRK1 | 0.19395128 |
| 92 | BRSK2 | 0.19212212 |
| 93 | CDK19 | 0.18587334 |
| 94 | AKT1 | 0.17745412 |
| 95 | ARAF | 0.17505571 |
| 96 | LATS1 | 0.16808645 |
| 97 | ABL2 | 0.16765991 |
| 98 | NTRK3 | 0.16556817 |
| 99 | PLK1 | 0.15926238 |
| 100 | PASK | 0.15755989 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 7.08363639 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 6.23921933 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 2.92695573 |
| 4 | RNA transport_Homo sapiens_hsa03013 | 2.81471396 |
| 5 | Basal transcription factors_Homo sapiens_hsa03022 | 2.36706785 |
| 6 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.30649905 |
| 7 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 2.12792069 |
| 8 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 2.06974012 |
| 9 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.92421474 |
| 10 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.76729354 |
| 11 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.75346300 |
| 12 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.68453990 |
| 13 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.64562057 |
| 14 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.48594121 |
| 15 | Phototransduction_Homo sapiens_hsa04744 | 1.42630670 |
| 16 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.42223256 |
| 17 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.35053460 |
| 18 | Huntingtons disease_Homo sapiens_hsa05016 | 1.34972782 |
| 19 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.34784437 |
| 20 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.32841087 |
| 21 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.32745771 |
| 22 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.31930262 |
| 23 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 1.29037284 |
| 24 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.24670551 |
| 25 | Taste transduction_Homo sapiens_hsa04742 | 1.23913147 |
| 26 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.12496919 |
| 27 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 1.06560267 |
| 28 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.03776374 |
| 29 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.03211141 |
| 30 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.98805517 |
| 31 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.98673723 |
| 32 | Mineral absorption_Homo sapiens_hsa04978 | 0.96742626 |
| 33 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.96531284 |
| 34 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.94320800 |
| 35 | Endocytosis_Homo sapiens_hsa04144 | 0.94224981 |
| 36 | Purine metabolism_Homo sapiens_hsa00230 | 0.92906992 |
| 37 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.87742517 |
| 38 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.85928260 |
| 39 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.84952148 |
| 40 | RNA polymerase_Homo sapiens_hsa03020 | 0.84412410 |
| 41 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.84155327 |
| 42 | Retinol metabolism_Homo sapiens_hsa00830 | 0.83996161 |
| 43 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.83413343 |
| 44 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 0.82821938 |
| 45 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.82622586 |
| 46 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.80555744 |
| 47 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.80337573 |
| 48 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.78232820 |
| 49 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.77777305 |
| 50 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.76708710 |
| 51 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.76461383 |
| 52 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.74565529 |
| 53 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.71092681 |
| 54 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.69661684 |
| 55 | Peroxisome_Homo sapiens_hsa04146 | 0.66084330 |
| 56 | Carbon metabolism_Homo sapiens_hsa01200 | 0.65975118 |
| 57 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.63054435 |
| 58 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.62386569 |
| 59 | RNA degradation_Homo sapiens_hsa03018 | 0.62158729 |
| 60 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.61750300 |
| 61 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.61607072 |
| 62 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.60743360 |
| 63 | Histidine metabolism_Homo sapiens_hsa00340 | 0.60457985 |
| 64 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.59613481 |
| 65 | Spliceosome_Homo sapiens_hsa03040 | 0.59498339 |
| 66 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.59474777 |
| 67 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.59254544 |
| 68 | Metabolic pathways_Homo sapiens_hsa01100 | 0.56436958 |
| 69 | Allograft rejection_Homo sapiens_hsa05330 | 0.55716258 |
| 70 | Proteasome_Homo sapiens_hsa03050 | 0.55187626 |
| 71 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.54883420 |
| 72 | Ribosome_Homo sapiens_hsa03010 | 0.54468074 |
| 73 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.54350784 |
| 74 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.51331983 |
| 75 | Tight junction_Homo sapiens_hsa04530 | 0.50809410 |
| 76 | Bile secretion_Homo sapiens_hsa04976 | 0.50656515 |
| 77 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.48932482 |
| 78 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.48146488 |
| 79 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.47592217 |
| 80 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.47288597 |
| 81 | Parkinsons disease_Homo sapiens_hsa05012 | 0.46413434 |
| 82 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.45720248 |
| 83 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.43480317 |
| 84 | Base excision repair_Homo sapiens_hsa03410 | 0.42056956 |
| 85 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.41002390 |
| 86 | Viral myocarditis_Homo sapiens_hsa05416 | 0.40703707 |
| 87 | Homologous recombination_Homo sapiens_hsa03440 | 0.40629622 |
| 88 | ABC transporters_Homo sapiens_hsa02010 | 0.40052716 |
| 89 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.39497639 |
| 90 | Morphine addiction_Homo sapiens_hsa05032 | 0.36512638 |
| 91 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.35869589 |
| 92 | Salivary secretion_Homo sapiens_hsa04970 | 0.34185871 |
| 93 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.33256063 |
| 94 | Influenza A_Homo sapiens_hsa05164 | 0.30159139 |
| 95 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.29988865 |
| 96 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.27759987 |
| 97 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.27279416 |
| 98 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.26517175 |
| 99 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.24575397 |
| 100 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.23190383 |

