

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | chromosome condensation (GO:0030261) | 9.78971367 |
| 2 | DNA packaging (GO:0006323) | 9.30134630 |
| 3 | sperm capacitation (GO:0048240) | 8.63385579 |
| 4 | plasma membrane fusion (GO:0045026) | 8.57440381 |
| 5 | microtubule depolymerization (GO:0007019) | 8.31239392 |
| 6 | single strand break repair (GO:0000012) | 8.14807334 |
| 7 | response to pheromone (GO:0019236) | 8.11340227 |
| 8 | spermatid development (GO:0007286) | 8.04077931 |
| 9 | protein targeting to Golgi (GO:0000042) | 7.92323967 |
| 10 | spermatid nucleus differentiation (GO:0007289) | 7.90764032 |
| 11 | establishment of protein localization to Golgi (GO:0072600) | 7.60828030 |
| 12 | sperm-egg recognition (GO:0035036) | 7.51550103 |
| 13 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 7.37232797 |
| 14 | protein polyglutamylation (GO:0018095) | 7.35178412 |
| 15 | rRNA methylation (GO:0031167) | 7.28822014 |
| 16 | microtubule polymerization or depolymerization (GO:0031109) | 7.19213160 |
| 17 | binding of sperm to zona pellucida (GO:0007339) | 7.10340856 |
| 18 | multicellular organism reproduction (GO:0032504) | 6.98060385 |
| 19 | sexual reproduction (GO:0019953) | 6.67388927 |
| 20 | reproduction (GO:0000003) | 6.65509448 |
| 21 | calcium ion-dependent exocytosis (GO:0017156) | 6.64818449 |
| 22 | axonemal dynein complex assembly (GO:0070286) | 6.36118138 |
| 23 | * spermatogenesis (GO:0007283) | 6.28729077 |
| 24 | * male gamete generation (GO:0048232) | 6.26596104 |
| 25 | negative regulation of inclusion body assembly (GO:0090084) | 6.22216567 |
| 26 | cell-cell recognition (GO:0009988) | 6.19413164 |
| 27 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.16700566 |
| 28 | rRNA modification (GO:0000154) | 6.10136921 |
| 29 | centriole replication (GO:0007099) | 5.97933725 |
| 30 | * gamete generation (GO:0007276) | 5.74305896 |
| 31 | protein localization to Golgi apparatus (GO:0034067) | 5.73372461 |
| 32 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.69582258 |
| 33 | microtubule severing (GO:0051013) | 5.68633684 |
| 34 | motile cilium assembly (GO:0044458) | 5.42679005 |
| 35 | centriole assembly (GO:0098534) | 5.33158378 |
| 36 | single fertilization (GO:0007338) | 5.28269361 |
| 37 | seminiferous tubule development (GO:0072520) | 5.16915632 |
| 38 | cellular ketone body metabolic process (GO:0046950) | 5.12646764 |
| 39 | regulation of centriole replication (GO:0046599) | 5.12589754 |
| 40 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 5.04853860 |
| 41 | regulation of cilium movement (GO:0003352) | 4.95602099 |
| 42 | glomerular visceral epithelial cell development (GO:0072015) | 4.93771202 |
| 43 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.88100417 |
| 44 | positive regulation of Rab GTPase activity (GO:0032851) | 4.80159080 |
| 45 | regulation of Rab GTPase activity (GO:0032313) | 4.80159080 |
| 46 | RNA destabilization (GO:0050779) | 4.77481083 |
| 47 | ketone body metabolic process (GO:1902224) | 4.72020983 |
| 48 | germ cell development (GO:0007281) | 4.65196225 |
| 49 | glomerular epithelial cell development (GO:0072310) | 4.64088535 |
| 50 | chromatin silencing (GO:0006342) | 4.63852214 |
| 51 | * multicellular organismal reproductive process (GO:0048609) | 4.58851840 |
| 52 | fertilization (GO:0009566) | 4.51312401 |
| 53 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.39665527 |
| 54 | regulation of inclusion body assembly (GO:0090083) | 4.36235807 |
| 55 | cell wall macromolecule catabolic process (GO:0016998) | 4.29462824 |
| 56 | nucleus organization (GO:0006997) | 4.29376516 |
| 57 | epithelial cilium movement (GO:0003351) | 4.28613268 |
| 58 | glycerol ether metabolic process (GO:0006662) | 4.12198292 |
| 59 | cell wall macromolecule metabolic process (GO:0044036) | 4.04168242 |
| 60 | microtubule nucleation (GO:0007020) | 3.82048307 |
| 61 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.80166075 |
| 62 | ether metabolic process (GO:0018904) | 3.80106012 |
| 63 | cilium movement (GO:0003341) | 3.76095152 |
| 64 | coenzyme catabolic process (GO:0009109) | 3.76002657 |
| 65 | multicellular organismal movement (GO:0050879) | 3.72089353 |
| 66 | musculoskeletal movement (GO:0050881) | 3.72089353 |
| 67 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.67361908 |
| 68 | protein-DNA complex disassembly (GO:0032986) | 3.41592069 |
| 69 | nucleosome disassembly (GO:0006337) | 3.41592069 |
| 70 | organic cation transport (GO:0015695) | 3.28240055 |
| 71 | nuclear pore complex assembly (GO:0051292) | 3.26668365 |
| 72 | histone H3-K9 demethylation (GO:0033169) | 3.24161559 |
| 73 | regulation of interleukin-13 production (GO:0032656) | 3.23879637 |
| 74 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.21981457 |
| 75 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.18588350 |
| 76 | polyamine biosynthetic process (GO:0006596) | 3.17920614 |
| 77 | protein depolymerization (GO:0051261) | 3.16747482 |
| 78 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.12129098 |
| 79 | regulation of microtubule-based movement (GO:0060632) | 3.09162767 |
| 80 | cellular response to pH (GO:0071467) | 3.01518297 |
| 81 | response to acidic pH (GO:0010447) | 3.00415571 |
| 82 | multicellular organismal development (GO:0007275) | 3.00320669 |
| 83 | receptor recycling (GO:0001881) | 2.99934983 |
| 84 | DNA conformation change (GO:0071103) | 2.99195019 |
| 85 | homeostasis of number of cells within a tissue (GO:0048873) | 2.99113159 |
| 86 | cell recognition (GO:0008037) | 2.97524936 |
| 87 | intra-Golgi vesicle-mediated transport (GO:0006891) | 2.93172923 |
| 88 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 2.91393589 |
| 89 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 2.91393589 |
| 90 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 2.90588239 |
| 91 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.88379012 |
| 92 | regulation of ARF GTPase activity (GO:0032312) | 2.87882680 |
| 93 | male meiosis (GO:0007140) | 2.87867839 |
| 94 | ventricular system development (GO:0021591) | 2.84154282 |
| 95 | piRNA metabolic process (GO:0034587) | 2.79285298 |
| 96 | regulation of T-helper 2 cell differentiation (GO:0045628) | 2.74686932 |
| 97 | cerebral cortex neuron differentiation (GO:0021895) | 2.68584084 |
| 98 | acrosome reaction (GO:0007340) | 12.3235857 |
| 99 | sperm motility (GO:0030317) | 12.1241051 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 11.2699786 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 5.12928689 |
| 2 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.82622570 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.59690731 |
| 4 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.54468009 |
| 5 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.54468009 |
| 6 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.42912047 |
| 7 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.31907475 |
| 8 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.31907475 |
| 9 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.16917182 |
| 10 | FUS_26573619_Chip-Seq_HEK293_Human | 2.16364469 |
| 11 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.10348421 |
| 12 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.06868929 |
| 13 | ERA_21632823_ChIP-Seq_H3396_Human | 1.94376598 |
| 14 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.93088059 |
| 15 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.87963339 |
| 16 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.85346511 |
| 17 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.83261036 |
| 18 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.77131621 |
| 19 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.75552159 |
| 20 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.75325200 |
| 21 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.70492503 |
| 22 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.66915356 |
| 23 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.64251764 |
| 24 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.64094084 |
| 25 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.63817701 |
| 26 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.63537254 |
| 27 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.63385085 |
| 28 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.63263759 |
| 29 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.63059155 |
| 30 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.55909413 |
| 31 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.54485455 |
| 32 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.51454929 |
| 33 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.50882710 |
| 34 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.50313608 |
| 35 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.50229591 |
| 36 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.49799951 |
| 37 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.49424817 |
| 38 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.48251882 |
| 39 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.48041908 |
| 40 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.46287903 |
| 41 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.45376371 |
| 42 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.44598008 |
| 43 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.44512081 |
| 44 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.43909421 |
| 45 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.43189876 |
| 46 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.42540826 |
| 47 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.42061676 |
| 48 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.40923686 |
| 49 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.39152004 |
| 50 | AR_25329375_ChIP-Seq_VCAP_Human | 1.38588345 |
| 51 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.37280135 |
| 52 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.36088971 |
| 53 | P68_20966046_ChIP-Seq_HELA_Human | 1.35777311 |
| 54 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.35535299 |
| 55 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.34862159 |
| 56 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.34638916 |
| 57 | NFYB_21822215_ChIP-Seq_K562_Human | 1.31780693 |
| 58 | P300_19829295_ChIP-Seq_ESCs_Human | 1.30750678 |
| 59 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.29589337 |
| 60 | TBL1_22424771_ChIP-Seq_293T_Human | 1.29343542 |
| 61 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.27663023 |
| 62 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.26931434 |
| 63 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.25981161 |
| 64 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.25879908 |
| 65 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.24400966 |
| 66 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.24044031 |
| 67 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.23641854 |
| 68 | P300_27268052_Chip-Seq_Bcells_Human | 1.23575787 |
| 69 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.21007014 |
| 70 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.19294583 |
| 71 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.18593344 |
| 72 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.17994829 |
| 73 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.17114412 |
| 74 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.16812296 |
| 75 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.16710250 |
| 76 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.16497095 |
| 77 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.13539237 |
| 78 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.13356255 |
| 79 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.13283942 |
| 80 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.12847571 |
| 81 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.12146996 |
| 82 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.11494231 |
| 83 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.11220477 |
| 84 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.09339478 |
| 85 | NFYA_21822215_ChIP-Seq_K562_Human | 1.09168968 |
| 86 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.08544370 |
| 87 | SA1_27219007_Chip-Seq_Bcells_Human | 1.08047929 |
| 88 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.06941502 |
| 89 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.04587227 |
| 90 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.04018309 |
| 91 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.04018309 |
| 92 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.03756282 |
| 93 | STAT3_23295773_ChIP-Seq_U87_Human | 1.03216078 |
| 94 | VDR_22108803_ChIP-Seq_LS180_Human | 1.03214638 |
| 95 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.02035309 |
| 96 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.01938486 |
| 97 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.01458385 |
| 98 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.01099289 |
| 99 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.00446443 |
| 100 | TAF15_26573619_Chip-Seq_HEK293_Human | 0.98086062 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005377_hearing/vestibular/ear_phenot | 6.12310760 |
| 2 | MP0003878_abnormal_ear_physiology | 6.12310760 |
| 3 | MP0003698_abnormal_male_reproductive | 4.32349674 |
| 4 | MP0005670_abnormal_white_adipose | 4.29716013 |
| 5 | MP0001348_abnormal_lacrimal_gland | 3.83475436 |
| 6 | MP0001929_abnormal_gametogenesis | 3.75519433 |
| 7 | MP0003646_muscle_fatigue | 2.56072898 |
| 8 | MP0002161_abnormal_fertility/fecundity | 2.36864970 |
| 9 | MP0000678_abnormal_parathyroid_gland | 2.26476652 |
| 10 | MP0003718_maternal_effect | 2.14801942 |
| 11 | MP0003011_delayed_dark_adaptation | 2.12070251 |
| 12 | MP0005410_abnormal_fertilization | 12.0509808 |
| 13 | MP0001485_abnormal_pinna_reflex | 1.88804765 |
| 14 | MP0005379_endocrine/exocrine_gland_phen | 1.84156797 |
| 15 | MP0002132_abnormal_respiratory_system | 1.80177024 |
| 16 | MP0001486_abnormal_startle_reflex | 1.65821740 |
| 17 | MP0002210_abnormal_sex_determination | 1.64525559 |
| 18 | MP0003879_abnormal_hair_cell | 1.58523740 |
| 19 | MP0004742_abnormal_vestibular_system | 1.48145386 |
| 20 | MP0005310_abnormal_salivary_gland | 1.47986717 |
| 21 | MP0005423_abnormal_somatic_nervous | 1.45835472 |
| 22 | MP0002249_abnormal_larynx_morphology | 1.44726795 |
| 23 | MP0002282_abnormal_trachea_morphology | 1.40940955 |
| 24 | MP0005451_abnormal_body_composition | 1.34856101 |
| 25 | MP0001145_abnormal_male_reproductive | 1.34546280 |
| 26 | MP0001963_abnormal_hearing_physiology | 1.28989826 |
| 27 | MP0000653_abnormal_sex_gland | 1.25730993 |
| 28 | MP0002138_abnormal_hepatobiliary_system | 1.20855342 |
| 29 | MP0004510_myositis | 1.19899315 |
| 30 | MP0001765_abnormal_ion_homeostasis | 1.18978820 |
| 31 | MP0002234_abnormal_pharynx_morphology | 1.17644588 |
| 32 | MP0009053_abnormal_anal_canal | 1.12517218 |
| 33 | MP0000026_abnormal_inner_ear | 1.08752107 |
| 34 | MP0002127_abnormal_cardiovascular_syste | 1.05524044 |
| 35 | MP0001984_abnormal_olfaction | 1.05260811 |
| 36 | MP0005248_abnormal_Harderian_gland | 1.04763693 |
| 37 | MP0004859_abnormal_synaptic_plasticity | 1.03378104 |
| 38 | MP0005551_abnormal_eye_electrophysiolog | 0.98234591 |
| 39 | MP0002735_abnormal_chemical_nociception | 0.97688781 |
| 40 | MP0005395_other_phenotype | 0.97670342 |
| 41 | MP0000534_abnormal_ureter_morphology | 0.95617149 |
| 42 | MP0001968_abnormal_touch/_nociception | 0.91761990 |
| 43 | MP0005408_hypopigmentation | 0.90003670 |
| 44 | MP0005253_abnormal_eye_physiology | 0.89434840 |
| 45 | MP0002229_neurodegeneration | 0.89332093 |
| 46 | MP0009697_abnormal_copulation | 0.86556672 |
| 47 | MP0009115_abnormal_fat_cell | 0.79934734 |
| 48 | MP0008877_abnormal_DNA_methylation | 0.78886552 |
| 49 | MP0005083_abnormal_biliary_tract | 0.75936122 |
| 50 | MP0000681_abnormal_thyroid_gland | 0.72515046 |
| 51 | MP0002067_abnormal_sensory_capabilities | 0.69750466 |
| 52 | MP0000955_abnormal_spinal_cord | 0.66659316 |
| 53 | MP0005666_abnormal_adipose_tissue | 0.66326011 |
| 54 | MP0008995_early_reproductive_senescence | 0.66318291 |
| 55 | MP0004085_abnormal_heartbeat | 0.65982113 |
| 56 | MP0002733_abnormal_thermal_nociception | 0.64778650 |
| 57 | MP0005167_abnormal_blood-brain_barrier | 0.64154079 |
| 58 | MP0000049_abnormal_middle_ear | 0.62800868 |
| 59 | MP0005636_abnormal_mineral_homeostasis | 0.62702923 |
| 60 | MP0004036_abnormal_muscle_relaxation | 0.56904980 |
| 61 | MP0004233_abnormal_muscle_weight | 0.56612325 |
| 62 | MP0002557_abnormal_social/conspecific_i | 0.55945446 |
| 63 | MP0001666_abnormal_nutrient_absorption | 0.54123719 |
| 64 | MP0008569_lethality_at_weaning | 0.53615924 |
| 65 | MP0001879_abnormal_lymphatic_vessel | 0.53084749 |
| 66 | MP0002272_abnormal_nervous_system | 0.50087753 |
| 67 | MP0005367_renal/urinary_system_phenotyp | 0.49867735 |
| 68 | MP0000516_abnormal_urinary_system | 0.49867735 |
| 69 | MP0002822_catalepsy | 0.49806599 |
| 70 | MP0005375_adipose_tissue_phenotype | 0.49226135 |
| 71 | MP0003172_abnormal_lysosome_physiology | 0.48507295 |
| 72 | MP0002572_abnormal_emotion/affect_behav | 0.48064818 |
| 73 | MP0000230_abnormal_systemic_arterial | 0.47667379 |
| 74 | MP0003137_abnormal_impulse_conducting | 0.47242291 |
| 75 | MP0005332_abnormal_amino_acid | 0.46760676 |
| 76 | MP0001501_abnormal_sleep_pattern | 0.45776526 |
| 77 | MP0000566_synostosis | 0.45341479 |
| 78 | MP0004084_abnormal_cardiac_muscle | 0.44779260 |
| 79 | MP0001970_abnormal_pain_threshold | 0.44061570 |
| 80 | MP0004484_altered_response_of | 0.43166403 |
| 81 | MP0005535_abnormal_body_temperature | 0.41061606 |
| 82 | MP0003077_abnormal_cell_cycle | 0.41029910 |
| 83 | MP0008961_abnormal_basal_metabolism | 0.39390732 |
| 84 | MP0001905_abnormal_dopamine_level | 0.39317366 |
| 85 | MP0002928_abnormal_bile_duct | 0.39044394 |
| 86 | MP0005391_vision/eye_phenotype | 0.38553853 |
| 87 | MP0005645_abnormal_hypothalamus_physiol | 0.37463190 |
| 88 | MP0002653_abnormal_ependyma_morphology | 0.37395822 |
| 89 | MP0002269_muscular_atrophy | 0.36729967 |
| 90 | MP0000015_abnormal_ear_pigmentation | 0.35459594 |
| 91 | MP0010329_abnormal_lipoprotein_level | 0.34873928 |
| 92 | MP0009745_abnormal_behavioral_response | 0.33982951 |
| 93 | MP0002734_abnormal_mechanical_nocicepti | 0.33543224 |
| 94 | MP0000003_abnormal_adipose_tissue | 0.33322866 |
| 95 | MP0000470_abnormal_stomach_morphology | 0.32117652 |
| 96 | MP0005623_abnormal_meninges_morphology | 0.32048776 |
| 97 | MP0003936_abnormal_reproductive_system | 0.29764305 |
| 98 | MP0003631_nervous_system_phenotype | 0.29697013 |
| 99 | MP0000249_abnormal_blood_vessel | 0.29292149 |
| 100 | MP0003699_abnormal_female_reproductive | 0.29064083 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 7.78465507 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.49594203 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 6.49594203 |
| 4 | Tubulointerstitial nephritis (HP:0001970) | 5.95231964 |
| 5 | Asymmetric septal hypertrophy (HP:0001670) | 5.59936679 |
| 6 | Chronic hepatic failure (HP:0100626) | 5.52593151 |
| 7 | Abnormal ciliary motility (HP:0012262) | 4.84092873 |
| 8 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.81233121 |
| 9 | Attenuation of retinal blood vessels (HP:0007843) | 4.80135249 |
| 10 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.77131746 |
| 11 | Nasal polyposis (HP:0100582) | 4.65111681 |
| 12 | Resting tremor (HP:0002322) | 4.59565976 |
| 13 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.48457589 |
| 14 | Male infertility (HP:0003251) | 4.45039579 |
| 15 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.40987211 |
| 16 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.40987211 |
| 17 | Hyperkalemia (HP:0002153) | 4.37104908 |
| 18 | Cone-rod dystrophy (HP:0000548) | 4.34447520 |
| 19 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.27097694 |
| 20 | Abnormality of macular pigmentation (HP:0008002) | 4.21304099 |
| 21 | Infertility (HP:0000789) | 4.17671621 |
| 22 | Abnormality of the nasal mucosa (HP:0000433) | 3.80483806 |
| 23 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.68494829 |
| 24 | Progressive sensorineural hearing impairment (HP:0000408) | 3.51290882 |
| 25 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.48710867 |
| 26 | Facial shape deformation (HP:0011334) | 3.42623979 |
| 27 | Potter facies (HP:0002009) | 3.42623979 |
| 28 | Hypoalphalipoproteinemia (HP:0003233) | 3.41528403 |
| 29 | Amelogenesis imperfecta (HP:0000705) | 3.39241636 |
| 30 | Bell-shaped thorax (HP:0001591) | 3.37058621 |
| 31 | Enlarged epiphyses (HP:0010580) | 3.36694682 |
| 32 | Hypoplasia of the thymus (HP:0000778) | 3.34077135 |
| 33 | Abnormality of dental color (HP:0011073) | 3.22723907 |
| 34 | Impulsivity (HP:0100710) | 3.14154672 |
| 35 | Hypoplastic ischia (HP:0003175) | 3.07567770 |
| 36 | Menstrual irregularities (HP:0000858) | 3.06747449 |
| 37 | Abnormal spermatogenesis (HP:0008669) | 3.06666454 |
| 38 | Stage 5 chronic kidney disease (HP:0003774) | 3.06466525 |
| 39 | Postural instability (HP:0002172) | 3.05833572 |
| 40 | Progressive cerebellar ataxia (HP:0002073) | 2.93819813 |
| 41 | Renovascular hypertension (HP:0100817) | 2.91402606 |
| 42 | Unilateral renal agenesis (HP:0000122) | 2.88125153 |
| 43 | Azoospermia (HP:0000027) | 2.79332073 |
| 44 | Truncal obesity (HP:0001956) | 2.78424717 |
| 45 | Abnormality of the ischium (HP:0003174) | 2.73548752 |
| 46 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.72899482 |
| 47 | Rhinitis (HP:0012384) | 2.69769331 |
| 48 | Tubulointerstitial abnormality (HP:0001969) | 2.69069421 |
| 49 | Portal hypertension (HP:0001409) | 2.65531405 |
| 50 | Focal segmental glomerulosclerosis (HP:0000097) | 2.61786765 |
| 51 | Abnormal urine output (HP:0012590) | 2.56366426 |
| 52 | Abnormality of the costochondral junction (HP:0000919) | 2.54514721 |
| 53 | Nephronophthisis (HP:0000090) | 2.53249425 |
| 54 | Abnormality of potassium homeostasis (HP:0011042) | 2.49839285 |
| 55 | Abnormality of the aortic arch (HP:0012303) | 2.47711202 |
| 56 | Abnormality of the hepatic vasculature (HP:0006707) | 2.44052799 |
| 57 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.42133915 |
| 58 | Generalized aminoaciduria (HP:0002909) | 2.41402409 |
| 59 | Chronic bronchitis (HP:0004469) | 2.36843342 |
| 60 | Abnormal drinking behavior (HP:0030082) | 2.35895404 |
| 61 | Polydipsia (HP:0001959) | 2.35895404 |
| 62 | Congenital malformation of the right heart (HP:0011723) | 2.29483580 |
| 63 | Double outlet right ventricle (HP:0001719) | 2.29483580 |
| 64 | Renal dysplasia (HP:0000110) | 2.24248983 |
| 65 | Abnormality of renal excretion (HP:0011036) | 2.22384361 |
| 66 | Progressive hearing impairment (HP:0001730) | 2.20166997 |
| 67 | Flattened epiphyses (HP:0003071) | 2.17523390 |
| 68 | Ventricular tachycardia (HP:0004756) | 2.16341942 |
| 69 | Osteomalacia (HP:0002749) | 2.16130420 |
| 70 | Abnormality of the renal medulla (HP:0100957) | 2.16038775 |
| 71 | Hyperuricemia (HP:0002149) | 2.14865957 |
| 72 | Increased purine levels (HP:0004368) | 2.14865957 |
| 73 | Intellectual disability, moderate (HP:0002342) | 2.14466463 |
| 74 | Bronchiectasis (HP:0002110) | 2.10448540 |
| 75 | Decreased central vision (HP:0007663) | 2.09461803 |
| 76 | Polyuria (HP:0000103) | 2.07744184 |
| 77 | Hypophosphatemic rickets (HP:0004912) | 2.06508408 |
| 78 | Glomerulosclerosis (HP:0000096) | 2.05917173 |
| 79 | Hypoalbuminemia (HP:0003073) | 2.03624526 |
| 80 | Abnormal albumin level (HP:0012116) | 2.03624526 |
| 81 | Congenital sensorineural hearing impairment (HP:0008527) | 2.02284424 |
| 82 | Abnormality of the parathyroid morphology (HP:0011766) | 1.98098231 |
| 83 | Subcapsular cataract (HP:0000523) | 1.95320018 |
| 84 | Myokymia (HP:0002411) | 1.92626987 |
| 85 | Widely patent fontanelles and sutures (HP:0004492) | 1.91022388 |
| 86 | Hyponatremia (HP:0002902) | 1.89877450 |
| 87 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.85298377 |
| 88 | Horizontal nystagmus (HP:0000666) | 1.82377682 |
| 89 | Optic nerve hypoplasia (HP:0000609) | 1.81707903 |
| 90 | Recurrent pneumonia (HP:0006532) | 1.81263821 |
| 91 | Bradycardia (HP:0001662) | 1.80898833 |
| 92 | Pendular nystagmus (HP:0012043) | 1.79422224 |
| 93 | Photophobia (HP:0000613) | 1.79415554 |
| 94 | Renal Fanconi syndrome (HP:0001994) | 1.75271717 |
| 95 | Flat capital femoral epiphysis (HP:0003370) | 1.72740344 |
| 96 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 1.72205894 |
| 97 | Abnormality of femoral epiphyses (HP:0006499) | 1.72205894 |
| 98 | Tetany (HP:0001281) | 1.71826908 |
| 99 | Tubular atrophy (HP:0000092) | 1.70191334 |
| 100 | Recurrent corneal erosions (HP:0000495) | 1.69768559 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 9.31215644 |
| 2 | TESK1 | 4.96725086 |
| 3 | INSRR | 4.71782220 |
| 4 | BRD4 | 4.13632490 |
| 5 | DDR2 | 3.75559140 |
| 6 | PLK2 | 3.52386369 |
| 7 | MAP4K2 | 3.52367836 |
| 8 | PNCK | 2.90474466 |
| 9 | STK38 | 2.78365425 |
| 10 | PIK3CG | 2.34886267 |
| 11 | CAMK1G | 2.24476282 |
| 12 | PRKD3 | 1.99819734 |
| 13 | STK38L | 1.98826731 |
| 14 | MST1R | 1.97881284 |
| 15 | MAPK15 | 1.82160558 |
| 16 | WNK1 | 1.80605942 |
| 17 | PDPK1 | 1.54782672 |
| 18 | PDK1 | 1.53677141 |
| 19 | CDK12 | 1.48650448 |
| 20 | NEK6 | 1.39123027 |
| 21 | TYRO3 | 1.33598787 |
| 22 | PTK2B | 1.24939137 |
| 23 | DYRK1B | 1.22905642 |
| 24 | CDK7 | 1.07151101 |
| 25 | MAP3K9 | 1.01974927 |
| 26 | MAP3K11 | 0.86905087 |
| 27 | KSR2 | 0.86410002 |
| 28 | PRKG2 | 0.85330966 |
| 29 | WNK4 | 0.85237395 |
| 30 | LATS2 | 0.77066090 |
| 31 | CAMK1D | 0.76889311 |
| 32 | TIE1 | 0.75601058 |
| 33 | AKT3 | 0.72048726 |
| 34 | PRKAA2 | 0.71302988 |
| 35 | PINK1 | 0.65911272 |
| 36 | BRAF | 0.62772150 |
| 37 | SIK2 | 0.62202698 |
| 38 | PRKG1 | 0.59106436 |
| 39 | MAP2K2 | 0.54019552 |
| 40 | CAMK1 | 0.53575378 |
| 41 | CDK3 | 0.53045906 |
| 42 | RPS6KA2 | 0.52649861 |
| 43 | BMPR1B | 0.52340091 |
| 44 | STK39 | 0.47484622 |
| 45 | RPS6KA1 | 0.46548783 |
| 46 | MUSK | 0.46381832 |
| 47 | UHMK1 | 0.45390929 |
| 48 | ROCK1 | 0.41560673 |
| 49 | TXK | 0.39343838 |
| 50 | MAP3K8 | 0.38851354 |
| 51 | GSK3B | 0.38398078 |
| 52 | CDK1 | 0.38104012 |
| 53 | MAPK1 | 0.38040034 |
| 54 | MARK1 | 0.37955636 |
| 55 | LATS1 | 0.37546064 |
| 56 | SGK494 | 0.37157092 |
| 57 | SGK223 | 0.37157092 |
| 58 | CDK2 | 0.36387863 |
| 59 | MAP3K2 | 0.34872643 |
| 60 | MAP3K1 | 0.34733049 |
| 61 | BRSK1 | 0.34538054 |
| 62 | PRKCG | 0.31121476 |
| 63 | CAMK4 | 0.29826407 |
| 64 | NTRK3 | 0.29776908 |
| 65 | MTOR | 0.29694051 |
| 66 | MET | 0.28345116 |
| 67 | PRKCZ | 0.28114319 |
| 68 | SGK1 | 0.27985041 |
| 69 | MAPK8 | 0.26862339 |
| 70 | NEK2 | 0.26020058 |
| 71 | FRK | 0.25336874 |
| 72 | CDK4 | 0.25217613 |
| 73 | BLK | 0.24610327 |
| 74 | RPS6KC1 | 0.24548217 |
| 75 | RPS6KL1 | 0.24548217 |
| 76 | NME1 | 0.23268862 |
| 77 | CHEK1 | 0.22880705 |
| 78 | RPS6KA6 | 0.22831967 |
| 79 | OXSR1 | 0.21191411 |
| 80 | PRKCB | 0.20683846 |
| 81 | ARAF | 0.19536003 |
| 82 | MAPK14 | 0.18028535 |
| 83 | MAP3K4 | 0.17118273 |
| 84 | AKT1 | 0.17094993 |
| 85 | MAPK10 | 0.14622633 |
| 86 | MAPK11 | 0.12668135 |
| 87 | MAP3K7 | 0.12049924 |
| 88 | MARK2 | 0.11062860 |
| 89 | DYRK3 | 0.10665341 |
| 90 | PKN1 | 0.10645897 |
| 91 | PRKACB | 0.10509602 |
| 92 | PASK | 0.09829631 |
| 93 | FER | 0.08482393 |
| 94 | PRKACA | 0.08364003 |
| 95 | SGK2 | 0.07521022 |
| 96 | MARK3 | 0.06365756 |
| 97 | BRSK2 | 0.05223275 |
| 98 | MAP3K13 | 0.05068796 |
| 99 | PRKAA1 | 0.04729501 |
| 100 | CAMK2A | 0.04201235 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 7.34882810 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 6.25029102 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 4.21418626 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.57286082 |
| 5 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 2.13976008 |
| 6 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.98328033 |
| 7 | Taste transduction_Homo sapiens_hsa04742 | 1.83912683 |
| 8 | RNA transport_Homo sapiens_hsa03013 | 1.83863152 |
| 9 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.79027487 |
| 10 | Allograft rejection_Homo sapiens_hsa05330 | 1.76881707 |
| 11 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.76783429 |
| 12 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.75558993 |
| 13 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.73662738 |
| 14 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.65041343 |
| 15 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.62975037 |
| 16 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.54389183 |
| 17 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.51537927 |
| 18 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.37894736 |
| 19 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.36722852 |
| 20 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.33224039 |
| 21 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.27357293 |
| 22 | Viral myocarditis_Homo sapiens_hsa05416 | 1.23388682 |
| 23 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.22849539 |
| 24 | Salivary secretion_Homo sapiens_hsa04970 | 1.21631451 |
| 25 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.21423859 |
| 26 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.13280171 |
| 27 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.12588106 |
| 28 | Phototransduction_Homo sapiens_hsa04744 | 1.07870409 |
| 29 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.04403645 |
| 30 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.03484188 |
| 31 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.03079031 |
| 32 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.00552834 |
| 33 | Endocytosis_Homo sapiens_hsa04144 | 0.99868164 |
| 34 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.99561358 |
| 35 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.99504335 |
| 36 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.98223234 |
| 37 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.94672442 |
| 38 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.92907903 |
| 39 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.90937723 |
| 40 | Influenza A_Homo sapiens_hsa05164 | 0.90905930 |
| 41 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.90876946 |
| 42 | ABC transporters_Homo sapiens_hsa02010 | 0.84838392 |
| 43 | Nicotine addiction_Homo sapiens_hsa05033 | 0.84789106 |
| 44 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.83894038 |
| 45 | Morphine addiction_Homo sapiens_hsa05032 | 0.82854631 |
| 46 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.82054483 |
| 47 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.80085075 |
| 48 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.79780212 |
| 49 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.77367367 |
| 50 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.74707281 |
| 51 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.73114229 |
| 52 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.72353706 |
| 53 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.70185020 |
| 54 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.68376746 |
| 55 | Circadian entrainment_Homo sapiens_hsa04713 | 0.64678170 |
| 56 | Retinol metabolism_Homo sapiens_hsa00830 | 0.63868065 |
| 57 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.63556297 |
| 58 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.61220477 |
| 59 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.59765092 |
| 60 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.59634304 |
| 61 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.58704682 |
| 62 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.55752875 |
| 63 | Renin secretion_Homo sapiens_hsa04924 | 0.55174950 |
| 64 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.54826792 |
| 65 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.50965020 |
| 66 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.49160081 |
| 67 | Insulin secretion_Homo sapiens_hsa04911 | 0.48344272 |
| 68 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.47958402 |
| 69 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.47452654 |
| 70 | Bile secretion_Homo sapiens_hsa04976 | 0.46921908 |
| 71 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.46415153 |
| 72 | Purine metabolism_Homo sapiens_hsa00230 | 0.46336006 |
| 73 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.44510860 |
| 74 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.44446536 |
| 75 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.43070129 |
| 76 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.41698684 |
| 77 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.41631686 |
| 78 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.40502307 |
| 79 | Basal transcription factors_Homo sapiens_hsa03022 | 0.40171803 |
| 80 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.36848687 |
| 81 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.32513906 |
| 82 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.32110395 |
| 83 | Long-term potentiation_Homo sapiens_hsa04720 | 0.32038567 |
| 84 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.29648215 |
| 85 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.28463448 |
| 86 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.27960537 |
| 87 | GABAergic synapse_Homo sapiens_hsa04727 | 0.27073408 |
| 88 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.25256955 |
| 89 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.23941629 |
| 90 | Tight junction_Homo sapiens_hsa04530 | 0.23460016 |
| 91 | Sulfur relay system_Homo sapiens_hsa04122 | 0.23314314 |
| 92 | Huntingtons disease_Homo sapiens_hsa05016 | 0.22406753 |
| 93 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.22347097 |
| 94 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.20034159 |
| 95 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.18639779 |
| 96 | Legionellosis_Homo sapiens_hsa05134 | 0.17984512 |
| 97 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.17277491 |
| 98 | Metabolic pathways_Homo sapiens_hsa01100 | 0.15713495 |
| 99 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.13352076 |
| 100 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.12959091 |

