

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm capacitation (GO:0048240) | 9.19678718 |
| 2 | chromosome condensation (GO:0030261) | 9.12632649 |
| 3 | DNA packaging (GO:0006323) | 8.96261567 |
| 4 | response to pheromone (GO:0019236) | 8.90355392 |
| 5 | plasma membrane fusion (GO:0045026) | 8.71556623 |
| 6 | microtubule depolymerization (GO:0007019) | 8.42073030 |
| 7 | spermatid development (GO:0007286) | 8.37261907 |
| 8 | single strand break repair (GO:0000012) | 7.80471829 |
| 9 | sperm-egg recognition (GO:0035036) | 7.70062943 |
| 10 | spermatid nucleus differentiation (GO:0007289) | 7.65733995 |
| 11 | multicellular organism reproduction (GO:0032504) | 7.19805611 |
| 12 | binding of sperm to zona pellucida (GO:0007339) | 7.16116390 |
| 13 | negative regulation of inclusion body assembly (GO:0090084) | 6.97356867 |
| 14 | microtubule polymerization or depolymerization (GO:0031109) | 6.88647899 |
| 15 | rRNA methylation (GO:0031167) | 6.71833269 |
| 16 | reproduction (GO:0000003) | 6.70234088 |
| 17 | protein polyglutamylation (GO:0018095) | 6.63441027 |
| 18 | calcium ion-dependent exocytosis (GO:0017156) | 6.63071531 |
| 19 | protein targeting to Golgi (GO:0000042) | 6.53371250 |
| 20 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.41444705 |
| 21 | cell-cell recognition (GO:0009988) | 6.34846362 |
| 22 | sexual reproduction (GO:0019953) | 6.28392415 |
| 23 | establishment of protein localization to Golgi (GO:0072600) | 6.27621356 |
| 24 | spermatogenesis (GO:0007283) | 6.25230468 |
| 25 | male gamete generation (GO:0048232) | 6.23254389 |
| 26 | axonemal dynein complex assembly (GO:0070286) | 6.16975814 |
| 27 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 6.06128628 |
| 28 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.91439475 |
| 29 | microtubule severing (GO:0051013) | 5.75000097 |
| 30 | gamete generation (GO:0007276) | 5.72675656 |
| 31 | rRNA modification (GO:0000154) | 5.63820326 |
| 32 | centriole replication (GO:0007099) | 5.60502506 |
| 33 | cellular ketone body metabolic process (GO:0046950) | 5.26378993 |
| 34 | regulation of cilium movement (GO:0003352) | 5.19387706 |
| 35 | centriole assembly (GO:0098534) | 5.03304254 |
| 36 | single fertilization (GO:0007338) | 4.96653439 |
| 37 | motile cilium assembly (GO:0044458) | 4.96182482 |
| 38 | regulation of inclusion body assembly (GO:0090083) | 4.91643784 |
| 39 | germ cell development (GO:0007281) | 4.79667422 |
| 40 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.72150847 |
| 41 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.71302251 |
| 42 | protein localization to Golgi apparatus (GO:0034067) | 4.66689870 |
| 43 | ketone body metabolic process (GO:1902224) | 4.63725213 |
| 44 | multicellular organismal reproductive process (GO:0048609) | 4.59121158 |
| 45 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 4.58332730 |
| 46 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.56928461 |
| 47 | regulation of centriole replication (GO:0046599) | 4.52102711 |
| 48 | RNA destabilization (GO:0050779) | 4.51639932 |
| 49 | * regulation of Rab GTPase activity (GO:0032313) | 4.50938384 |
| 50 | * positive regulation of Rab GTPase activity (GO:0032851) | 4.50938384 |
| 51 | cell wall macromolecule catabolic process (GO:0016998) | 4.48819639 |
| 52 | fertilization (GO:0009566) | 4.31770937 |
| 53 | cell wall macromolecule metabolic process (GO:0044036) | 4.31651594 |
| 54 | chromatin silencing (GO:0006342) | 4.29106080 |
| 55 | seminiferous tubule development (GO:0072520) | 4.19390917 |
| 56 | epithelial cilium movement (GO:0003351) | 4.08396403 |
| 57 | nucleus organization (GO:0006997) | 4.02035140 |
| 58 | coenzyme catabolic process (GO:0009109) | 3.92628042 |
| 59 | organic cation transport (GO:0015695) | 3.90695009 |
| 60 | histone H3-K9 demethylation (GO:0033169) | 3.82376136 |
| 61 | regulation of microtubule-based movement (GO:0060632) | 3.78094351 |
| 62 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.72459887 |
| 63 | male meiosis I (GO:0007141) | 3.68936102 |
| 64 | musculoskeletal movement (GO:0050881) | 3.65555201 |
| 65 | multicellular organismal movement (GO:0050879) | 3.65555201 |
| 66 | male meiosis (GO:0007140) | 3.61317907 |
| 67 | cilium movement (GO:0003341) | 3.58502089 |
| 68 | response to acidic pH (GO:0010447) | 3.54728200 |
| 69 | glycerol ether metabolic process (GO:0006662) | 3.54398006 |
| 70 | polyamine biosynthetic process (GO:0006596) | 3.49065930 |
| 71 | regulation of somitogenesis (GO:0014807) | 3.45134348 |
| 72 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.43579679 |
| 73 | piRNA metabolic process (GO:0034587) | 3.34946624 |
| 74 | cellular response to pH (GO:0071467) | 3.33973266 |
| 75 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.32418922 |
| 76 | cerebral cortex neuron differentiation (GO:0021895) | 3.32299548 |
| 77 | protein-DNA complex disassembly (GO:0032986) | 3.27563860 |
| 78 | nucleosome disassembly (GO:0006337) | 3.27563860 |
| 79 | ether metabolic process (GO:0018904) | 3.26328618 |
| 80 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.22826003 |
| 81 | DNA methylation involved in gamete generation (GO:0043046) | 3.19448683 |
| 82 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 3.18730739 |
| 83 | protein depolymerization (GO:0051261) | 3.17082661 |
| 84 | glomerular visceral epithelial cell development (GO:0072015) | 3.10972459 |
| 85 | microtubule nucleation (GO:0007020) | 3.09670180 |
| 86 | regulation of interleukin-13 production (GO:0032656) | 3.07190714 |
| 87 | homeostasis of number of cells within a tissue (GO:0048873) | 3.07131301 |
| 88 | multicellular organismal development (GO:0007275) | 3.05129850 |
| 89 | cell recognition (GO:0008037) | 3.03224471 |
| 90 | glomerular epithelial cell development (GO:0072310) | 3.01126994 |
| 91 | cranial nerve morphogenesis (GO:0021602) | 2.99728547 |
| 92 | regulation of T-helper 2 cell differentiation (GO:0045628) | 2.98834165 |
| 93 | DNA conformation change (GO:0071103) | 2.89630328 |
| 94 | negative regulation of gene expression, epigenetic (GO:0045814) | 2.89311909 |
| 95 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 2.87876614 |
| 96 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 2.87876614 |
| 97 | Golgi to endosome transport (GO:0006895) | 2.83811861 |
| 98 | acrosome reaction (GO:0007340) | 12.1484339 |
| 99 | sperm motility (GO:0030317) | 11.8009636 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 11.4940727 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.66610618 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.63843475 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.57498443 |
| 4 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.43577311 |
| 5 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.43577311 |
| 6 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.36244973 |
| 7 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.24201358 |
| 8 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.20158443 |
| 9 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.16058964 |
| 10 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.16058964 |
| 11 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 2.07847997 |
| 12 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.07264218 |
| 13 | ERA_21632823_ChIP-Seq_H3396_Human | 2.00597556 |
| 14 | FUS_26573619_Chip-Seq_HEK293_Human | 1.92744828 |
| 15 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.92104305 |
| 16 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.87628217 |
| 17 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.85856007 |
| 18 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.85184842 |
| 19 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.83355752 |
| 20 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.81721724 |
| 21 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.81004388 |
| 22 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.78059985 |
| 23 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.77504365 |
| 24 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.77422370 |
| 25 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.73884789 |
| 26 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.70708411 |
| 27 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.66612602 |
| 28 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.66537215 |
| 29 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.65674345 |
| 30 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.63274021 |
| 31 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.62931532 |
| 32 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.61848027 |
| 33 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.60617625 |
| 34 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.60221056 |
| 35 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.55643376 |
| 36 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.55495318 |
| 37 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.54940085 |
| 38 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.52034924 |
| 39 | P68_20966046_ChIP-Seq_HELA_Human | 1.50214981 |
| 40 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.50195633 |
| 41 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.49362117 |
| 42 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.47857444 |
| 43 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.44524518 |
| 44 | AR_25329375_ChIP-Seq_VCAP_Human | 1.43055621 |
| 45 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.41747611 |
| 46 | * PHF8_20622854_ChIP-Seq_HELA_Human | 1.41196460 |
| 47 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.39513983 |
| 48 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.36826037 |
| 49 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.35705687 |
| 50 | P300_27268052_Chip-Seq_Bcells_Human | 1.35409748 |
| 51 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.35223706 |
| 52 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.34680437 |
| 53 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.34063534 |
| 54 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.32296092 |
| 55 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.32279091 |
| 56 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.31002593 |
| 57 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.30325904 |
| 58 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.30144116 |
| 59 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.29114532 |
| 60 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.27206465 |
| 61 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.27070629 |
| 62 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.26927775 |
| 63 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.26448178 |
| 64 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.26338547 |
| 65 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.24778742 |
| 66 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.24130349 |
| 67 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.23666234 |
| 68 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.22340973 |
| 69 | P300_19829295_ChIP-Seq_ESCs_Human | 1.22093321 |
| 70 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.21847502 |
| 71 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.21145081 |
| 72 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.20615124 |
| 73 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.18670503 |
| 74 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.18589404 |
| 75 | NFYB_21822215_ChIP-Seq_K562_Human | 1.18159064 |
| 76 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.18120855 |
| 77 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.17852746 |
| 78 | TBL1_22424771_ChIP-Seq_293T_Human | 1.15953446 |
| 79 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.15167856 |
| 80 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.13906542 |
| 81 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.11906862 |
| 82 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.11606127 |
| 83 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.11498066 |
| 84 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.10631861 |
| 85 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.10577650 |
| 86 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.09837945 |
| 87 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.09544709 |
| 88 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.08696514 |
| 89 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.07375533 |
| 90 | SA1_27219007_Chip-Seq_Bcells_Human | 1.06118334 |
| 91 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.05493326 |
| 92 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.05463469 |
| 93 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.04878630 |
| 94 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.04391175 |
| 95 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.04391175 |
| 96 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.03448850 |
| 97 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.01430206 |
| 98 | NFYA_21822215_ChIP-Seq_K562_Human | 0.98752138 |
| 99 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 0.98298320 |
| 100 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 0.97527434 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005377_hearing/vestibular/ear_phenot | 5.01132623 |
| 2 | MP0003878_abnormal_ear_physiology | 5.01132623 |
| 3 | MP0003698_abnormal_male_reproductive | 4.70459183 |
| 4 | MP0005670_abnormal_white_adipose | 4.50683370 |
| 5 | MP0001929_abnormal_gametogenesis | 4.16233489 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.02309708 |
| 7 | MP0000678_abnormal_parathyroid_gland | 2.67688963 |
| 8 | MP0002161_abnormal_fertility/fecundity | 2.63818424 |
| 9 | MP0003718_maternal_effect | 2.27510468 |
| 10 | MP0002210_abnormal_sex_determination | 2.06927233 |
| 11 | MP0002132_abnormal_respiratory_system | 2.06908384 |
| 12 | MP0005410_abnormal_fertilization | 12.5252092 |
| 13 | MP0003646_muscle_fatigue | 1.99839969 |
| 14 | MP0003011_delayed_dark_adaptation | 1.90455976 |
| 15 | MP0005423_abnormal_somatic_nervous | 1.71524635 |
| 16 | MP0001145_abnormal_male_reproductive | 1.70122479 |
| 17 | MP0002234_abnormal_pharynx_morphology | 1.68744764 |
| 18 | MP0002249_abnormal_larynx_morphology | 1.68131080 |
| 19 | MP0000653_abnormal_sex_gland | 1.61061555 |
| 20 | MP0001485_abnormal_pinna_reflex | 1.51824821 |
| 21 | MP0005379_endocrine/exocrine_gland_phen | 1.51467522 |
| 22 | MP0005310_abnormal_salivary_gland | 1.46332982 |
| 23 | MP0008877_abnormal_DNA_methylation | 1.44887392 |
| 24 | MP0001486_abnormal_startle_reflex | 1.43644221 |
| 25 | MP0002282_abnormal_trachea_morphology | 1.41431524 |
| 26 | MP0004510_myositis | 1.32566137 |
| 27 | MP0002822_catalepsy | 1.29089648 |
| 28 | MP0009053_abnormal_anal_canal | 1.27253759 |
| 29 | MP0004742_abnormal_vestibular_system | 1.26463214 |
| 30 | MP0000534_abnormal_ureter_morphology | 1.14250149 |
| 31 | MP0001765_abnormal_ion_homeostasis | 1.14096214 |
| 32 | MP0004859_abnormal_synaptic_plasticity | 1.11826337 |
| 33 | MP0005451_abnormal_body_composition | 1.10343200 |
| 34 | MP0001968_abnormal_touch/_nociception | 1.10171744 |
| 35 | MP0002138_abnormal_hepatobiliary_system | 1.09043528 |
| 36 | MP0001963_abnormal_hearing_physiology | 1.08955683 |
| 37 | MP0002127_abnormal_cardiovascular_syste | 1.05658283 |
| 38 | MP0002735_abnormal_chemical_nociception | 1.04095657 |
| 39 | MP0005248_abnormal_Harderian_gland | 1.03670289 |
| 40 | MP0005395_other_phenotype | 1.01871674 |
| 41 | MP0000026_abnormal_inner_ear | 0.97988432 |
| 42 | MP0003879_abnormal_hair_cell | 0.97313339 |
| 43 | MP0000955_abnormal_spinal_cord | 0.88272267 |
| 44 | MP0000681_abnormal_thyroid_gland | 0.87267901 |
| 45 | MP0002229_neurodegeneration | 0.83706284 |
| 46 | MP0000049_abnormal_middle_ear | 0.79992812 |
| 47 | MP0002067_abnormal_sensory_capabilities | 0.76598305 |
| 48 | MP0005551_abnormal_eye_electrophysiolog | 0.75423298 |
| 49 | MP0009115_abnormal_fat_cell | 0.73238457 |
| 50 | MP0001905_abnormal_dopamine_level | 0.71922447 |
| 51 | MP0008995_early_reproductive_senescence | 0.70504610 |
| 52 | MP0005666_abnormal_adipose_tissue | 0.69850142 |
| 53 | MP0008569_lethality_at_weaning | 0.69556323 |
| 54 | MP0004085_abnormal_heartbeat | 0.69490357 |
| 55 | MP0005367_renal/urinary_system_phenotyp | 0.67918293 |
| 56 | MP0000516_abnormal_urinary_system | 0.67918293 |
| 57 | MP0009697_abnormal_copulation | 0.67852254 |
| 58 | MP0002733_abnormal_thermal_nociception | 0.66631596 |
| 59 | MP0002557_abnormal_social/conspecific_i | 0.65032893 |
| 60 | MP0001666_abnormal_nutrient_absorption | 0.63442313 |
| 61 | MP0005083_abnormal_biliary_tract | 0.63204080 |
| 62 | MP0001879_abnormal_lymphatic_vessel | 0.62785241 |
| 63 | MP0005636_abnormal_mineral_homeostasis | 0.60069694 |
| 64 | MP0005253_abnormal_eye_physiology | 0.59461670 |
| 65 | MP0005375_adipose_tissue_phenotype | 0.59213205 |
| 66 | MP0001984_abnormal_olfaction | 0.58718535 |
| 67 | MP0003699_abnormal_female_reproductive | 0.57470192 |
| 68 | MP0004484_altered_response_of | 0.54272682 |
| 69 | MP0002572_abnormal_emotion/affect_behav | 0.53317603 |
| 70 | MP0000003_abnormal_adipose_tissue | 0.53222378 |
| 71 | MP0005647_abnormal_sex_gland | 0.53203283 |
| 72 | MP0002272_abnormal_nervous_system | 0.52770393 |
| 73 | MP0003119_abnormal_digestive_system | 0.52560115 |
| 74 | MP0003077_abnormal_cell_cycle | 0.51405958 |
| 75 | MP0005167_abnormal_blood-brain_barrier | 0.49164628 |
| 76 | MP0009745_abnormal_behavioral_response | 0.46504997 |
| 77 | MP0001970_abnormal_pain_threshold | 0.45624675 |
| 78 | MP0003137_abnormal_impulse_conducting | 0.44806250 |
| 79 | MP0001501_abnormal_sleep_pattern | 0.44739925 |
| 80 | MP0001440_abnormal_grooming_behavior | 0.44470916 |
| 81 | MP0000470_abnormal_stomach_morphology | 0.44310288 |
| 82 | MP0002653_abnormal_ependyma_morphology | 0.43952196 |
| 83 | MP0005623_abnormal_meninges_morphology | 0.43035821 |
| 84 | MP0003880_abnormal_central_pattern | 0.43007342 |
| 85 | MP0000249_abnormal_blood_vessel | 0.41773269 |
| 86 | MP0002734_abnormal_mechanical_nocicepti | 0.41474700 |
| 87 | MP0003936_abnormal_reproductive_system | 0.41187979 |
| 88 | MP0002160_abnormal_reproductive_system | 0.40429341 |
| 89 | MP0001119_abnormal_female_reproductive | 0.40374153 |
| 90 | MP0000613_abnormal_salivary_gland | 0.39051269 |
| 91 | MP0004233_abnormal_muscle_weight | 0.37670758 |
| 92 | MP0006292_abnormal_olfactory_placode | 0.35528701 |
| 93 | MP0000566_synostosis | 0.34501713 |
| 94 | MP0005535_abnormal_body_temperature | 0.34444590 |
| 95 | MP0008789_abnormal_olfactory_epithelium | 0.34257265 |
| 96 | MP0000230_abnormal_systemic_arterial | 0.34219248 |
| 97 | MP0004036_abnormal_muscle_relaxation | 0.33845010 |
| 98 | MP0003635_abnormal_synaptic_transmissio | 0.33775563 |
| 99 | MP0008961_abnormal_basal_metabolism | 0.33528526 |
| 100 | MP0002928_abnormal_bile_duct | 0.31391477 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 8.11004175 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 5.95202899 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.95202899 |
| 4 | Asymmetric septal hypertrophy (HP:0001670) | 5.31610685 |
| 5 | Tubulointerstitial nephritis (HP:0001970) | 5.03182966 |
| 6 | Attenuation of retinal blood vessels (HP:0007843) | 5.02848017 |
| 7 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.99240364 |
| 8 | Resting tremor (HP:0002322) | 4.92476900 |
| 9 | Abnormal ciliary motility (HP:0012262) | 4.61018807 |
| 10 | Bell-shaped thorax (HP:0001591) | 4.59478814 |
| 11 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.57172415 |
| 12 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.54744275 |
| 13 | Chronic hepatic failure (HP:0100626) | 4.40285477 |
| 14 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.36468436 |
| 15 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.36468436 |
| 16 | Infertility (HP:0000789) | 4.25960618 |
| 17 | Male infertility (HP:0003251) | 4.18181332 |
| 18 | Hyperkalemia (HP:0002153) | 4.17501290 |
| 19 | Nasal polyposis (HP:0100582) | 4.15552506 |
| 20 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.07625805 |
| 21 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.02293981 |
| 22 | Hypoplastic ischia (HP:0003175) | 3.99108717 |
| 23 | Abnormality of macular pigmentation (HP:0008002) | 3.98497631 |
| 24 | Azoospermia (HP:0000027) | 3.91588704 |
| 25 | Facial shape deformation (HP:0011334) | 3.87972173 |
| 26 | Potter facies (HP:0002009) | 3.87972173 |
| 27 | Enlarged epiphyses (HP:0010580) | 3.86164359 |
| 28 | Abnormal spermatogenesis (HP:0008669) | 3.77131787 |
| 29 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.74573700 |
| 30 | Cone-rod dystrophy (HP:0000548) | 3.59575860 |
| 31 | Abnormality of the ischium (HP:0003174) | 3.56810703 |
| 32 | Impulsivity (HP:0100710) | 3.39008236 |
| 33 | Abnormality of the nasal mucosa (HP:0000433) | 3.35842201 |
| 34 | Hypoplasia of the thymus (HP:0000778) | 3.26096097 |
| 35 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 3.15871753 |
| 36 | Postural instability (HP:0002172) | 3.12538130 |
| 37 | Nephronophthisis (HP:0000090) | 2.89721473 |
| 38 | Unilateral renal agenesis (HP:0000122) | 2.87999910 |
| 39 | Abnormal urine output (HP:0012590) | 2.76559278 |
| 40 | Rhinitis (HP:0012384) | 2.74565687 |
| 41 | Congenital malformation of the right heart (HP:0011723) | 2.74236650 |
| 42 | Double outlet right ventricle (HP:0001719) | 2.74236650 |
| 43 | Progressive sensorineural hearing impairment (HP:0000408) | 2.69659188 |
| 44 | Abnormality of the aortic arch (HP:0012303) | 2.69653632 |
| 45 | Truncal obesity (HP:0001956) | 2.69462375 |
| 46 | Generalized aminoaciduria (HP:0002909) | 2.69002133 |
| 47 | Stage 5 chronic kidney disease (HP:0003774) | 2.68300102 |
| 48 | Renal dysplasia (HP:0000110) | 2.64276991 |
| 49 | Hypoalphalipoproteinemia (HP:0003233) | 2.64229081 |
| 50 | Amelogenesis imperfecta (HP:0000705) | 2.54916518 |
| 51 | Abnormality of the renal medulla (HP:0100957) | 2.47972547 |
| 52 | Tubulointerstitial abnormality (HP:0001969) | 2.46422912 |
| 53 | Portal hypertension (HP:0001409) | 2.44491067 |
| 54 | Abnormal drinking behavior (HP:0030082) | 2.43949271 |
| 55 | Polydipsia (HP:0001959) | 2.43949271 |
| 56 | Progressive cerebellar ataxia (HP:0002073) | 2.43120478 |
| 57 | Abnormality of potassium homeostasis (HP:0011042) | 2.41658008 |
| 58 | Abnormality of dental color (HP:0011073) | 2.41277296 |
| 59 | Menstrual irregularities (HP:0000858) | 2.40119031 |
| 60 | Abnormality of renal excretion (HP:0011036) | 2.39231558 |
| 61 | Abnormality of the costochondral junction (HP:0000919) | 2.38858116 |
| 62 | Epiphyseal dysplasia (HP:0002656) | 2.35849328 |
| 63 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.33968472 |
| 64 | Renovascular hypertension (HP:0100817) | 2.32516827 |
| 65 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 2.29213095 |
| 66 | Absent epiphyses (HP:0010577) | 2.29213095 |
| 67 | Flattened epiphyses (HP:0003071) | 2.27050205 |
| 68 | Abnormality of the hepatic vasculature (HP:0006707) | 2.24045915 |
| 69 | Abnormality of the parathyroid morphology (HP:0011766) | 2.23766820 |
| 70 | Osteomalacia (HP:0002749) | 2.23049721 |
| 71 | Polyuria (HP:0000103) | 2.22379481 |
| 72 | Ventricular tachycardia (HP:0004756) | 2.21021391 |
| 73 | Bronchiectasis (HP:0002110) | 2.06006799 |
| 74 | Hypophosphatemic rickets (HP:0004912) | 2.03797362 |
| 75 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 2.03692830 |
| 76 | Hyponatremia (HP:0002902) | 2.01852460 |
| 77 | Tetany (HP:0001281) | 2.00293926 |
| 78 | Abnormality of the pubic bones (HP:0003172) | 1.95242578 |
| 79 | Recurrent pneumonia (HP:0006532) | 1.93405619 |
| 80 | Widely patent fontanelles and sutures (HP:0004492) | 1.93014070 |
| 81 | Chronic bronchitis (HP:0004469) | 1.92452828 |
| 82 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 1.89511348 |
| 83 | Abnormality of femoral epiphyses (HP:0006499) | 1.89511348 |
| 84 | Recurrent corneal erosions (HP:0000495) | 1.89231183 |
| 85 | Decreased central vision (HP:0007663) | 1.86659606 |
| 86 | Intellectual disability, moderate (HP:0002342) | 1.83438125 |
| 87 | Optic nerve hypoplasia (HP:0000609) | 1.83298678 |
| 88 | Short ribs (HP:0000773) | 1.81979860 |
| 89 | Hyperuricemia (HP:0002149) | 1.79860637 |
| 90 | Increased purine levels (HP:0004368) | 1.79860637 |
| 91 | Abnormality of the femoral head (HP:0003368) | 1.79685906 |
| 92 | Flat capital femoral epiphysis (HP:0003370) | 1.76820324 |
| 93 | Focal segmental glomerulosclerosis (HP:0000097) | 1.76242719 |
| 94 | Renal Fanconi syndrome (HP:0001994) | 1.76006217 |
| 95 | Bradycardia (HP:0001662) | 1.75214921 |
| 96 | Myokymia (HP:0002411) | 1.75141407 |
| 97 | Transposition of the great arteries (HP:0001669) | 1.73422293 |
| 98 | Abnormal connection of the cardiac segments (HP:0011545) | 1.73422293 |
| 99 | Abnormal ventriculo-arterial connection (HP:0011563) | 1.73422293 |
| 100 | Hyperthyroidism (HP:0000836) | 1.73346785 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 8.46661930 |
| 2 | TESK1 | 6.00327485 |
| 3 | DDR2 | 5.14530264 |
| 4 | INSRR | 4.11574746 |
| 5 | MAP4K2 | 3.26692117 |
| 6 | STK38 | 3.22685629 |
| 7 | PNCK | 3.12997172 |
| 8 | PLK2 | 3.11072875 |
| 9 | BRD4 | 2.82715944 |
| 10 | STK38L | 2.54788663 |
| 11 | MAPK15 | 2.42357497 |
| 12 | CAMK1G | 2.29035372 |
| 13 | PRKD3 | 2.13274591 |
| 14 | MST1R | 1.68374019 |
| 15 | PIK3CG | 1.64437565 |
| 16 | WNK1 | 1.63200921 |
| 17 | PDPK1 | 1.59967396 |
| 18 | PDK1 | 1.52477308 |
| 19 | CDK12 | 1.38975762 |
| 20 | DYRK1B | 1.29143684 |
| 21 | CDK7 | 1.26131399 |
| 22 | PTK2B | 1.25886873 |
| 23 | KSR2 | 1.14808963 |
| 24 | MAP3K9 | 1.12209925 |
| 25 | NEK6 | 1.12100653 |
| 26 | AKT3 | 0.91666121 |
| 27 | BRAF | 0.87560798 |
| 28 | PINK1 | 0.79417039 |
| 29 | TYRO3 | 0.77569590 |
| 30 | CAMK1D | 0.76569738 |
| 31 | PRKG2 | 0.71564286 |
| 32 | RPS6KA2 | 0.70361104 |
| 33 | LATS2 | 0.69639532 |
| 34 | SIK2 | 0.69270626 |
| 35 | MAP2K2 | 0.68389210 |
| 36 | UHMK1 | 0.66170703 |
| 37 | MAP3K2 | 0.65331643 |
| 38 | PRKG1 | 0.63500489 |
| 39 | WNK4 | 0.62491575 |
| 40 | RPS6KA1 | 0.60940792 |
| 41 | MAP3K11 | 0.57457187 |
| 42 | ROCK1 | 0.56796061 |
| 43 | LATS1 | 0.56655258 |
| 44 | ARAF | 0.56202709 |
| 45 | PRKAA2 | 0.55968329 |
| 46 | CAMK1 | 0.55147316 |
| 47 | CDK3 | 0.54101669 |
| 48 | MAP3K8 | 0.52357467 |
| 49 | STK39 | 0.50948731 |
| 50 | CDK2 | 0.44125502 |
| 51 | SGK494 | 0.44065240 |
| 52 | SGK223 | 0.44065240 |
| 53 | GSK3B | 0.42857007 |
| 54 | CDK4 | 0.42088906 |
| 55 | BMPR1B | 0.41118666 |
| 56 | CDK1 | 0.39440898 |
| 57 | MAPK1 | 0.39262506 |
| 58 | MUSK | 0.35841110 |
| 59 | RPS6KL1 | 0.35822955 |
| 60 | RPS6KC1 | 0.35822955 |
| 61 | RPS6KA6 | 0.34870059 |
| 62 | CAMK4 | 0.33008261 |
| 63 | MAP3K1 | 0.31149372 |
| 64 | MTOR | 0.30919784 |
| 65 | MAPK8 | 0.30720280 |
| 66 | CHEK1 | 0.30212816 |
| 67 | PRKCG | 0.29419156 |
| 68 | MET | 0.28938694 |
| 69 | MARK1 | 0.28265660 |
| 70 | PRKCZ | 0.28096352 |
| 71 | TESK2 | 0.27850533 |
| 72 | OXSR1 | 0.27633986 |
| 73 | TLK1 | 0.27080931 |
| 74 | SGK1 | 0.26884760 |
| 75 | NTRK3 | 0.26471330 |
| 76 | RIPK4 | 0.25729901 |
| 77 | MAP3K4 | 0.25537237 |
| 78 | MARK2 | 0.23953126 |
| 79 | ZAK | 0.22347372 |
| 80 | CDK19 | 0.22233325 |
| 81 | TIE1 | 0.21286877 |
| 82 | MAPK14 | 0.20968073 |
| 83 | PRKCB | 0.20496517 |
| 84 | MAPK10 | 0.18208425 |
| 85 | BRSK1 | 0.17854997 |
| 86 | DYRK3 | 0.17784751 |
| 87 | JAK3 | 0.17456424 |
| 88 | NEK2 | 0.16581776 |
| 89 | PKN1 | 0.16533723 |
| 90 | MAPK11 | 0.15242777 |
| 91 | AKT1 | 0.14940090 |
| 92 | TNIK | 0.13632563 |
| 93 | MAP3K13 | 0.10467059 |
| 94 | SGK2 | 0.08876337 |
| 95 | VRK1 | 0.08475954 |
| 96 | GRK7 | 0.08452778 |
| 97 | MAP2K7 | 0.08236006 |
| 98 | MARK3 | 0.07957987 |
| 99 | PRKACB | 0.06953573 |
| 100 | PRKACA | 0.06567274 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 7.48299561 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 6.36827833 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.75697371 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.67521293 |
| 5 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.09884086 |
| 6 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.94395530 |
| 7 | Taste transduction_Homo sapiens_hsa04742 | 1.80207761 |
| 8 | Allograft rejection_Homo sapiens_hsa05330 | 1.79377470 |
| 9 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.78710719 |
| 10 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.76262173 |
| 11 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.75234479 |
| 12 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.71460908 |
| 13 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.63345147 |
| 14 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.62432645 |
| 15 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.61197149 |
| 16 | RNA transport_Homo sapiens_hsa03013 | 1.57109512 |
| 17 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.55311684 |
| 18 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.52375245 |
| 19 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.44626223 |
| 20 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.43809558 |
| 21 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.43254221 |
| 22 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.32267912 |
| 23 | Viral myocarditis_Homo sapiens_hsa05416 | 1.23361084 |
| 24 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.19686437 |
| 25 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.19023252 |
| 26 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.18744712 |
| 27 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.10670514 |
| 28 | Endocytosis_Homo sapiens_hsa04144 | 1.04404215 |
| 29 | Phototransduction_Homo sapiens_hsa04744 | 1.02915811 |
| 30 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.99386129 |
| 31 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.98960050 |
| 32 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.98804874 |
| 33 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.97067057 |
| 34 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.95966592 |
| 35 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.95680977 |
| 36 | Salivary secretion_Homo sapiens_hsa04970 | 0.93233234 |
| 37 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.88986227 |
| 38 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.88484672 |
| 39 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.87907224 |
| 40 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.84471164 |
| 41 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.83137504 |
| 42 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.80820361 |
| 43 | Influenza A_Homo sapiens_hsa05164 | 0.77553385 |
| 44 | Morphine addiction_Homo sapiens_hsa05032 | 0.75455312 |
| 45 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.74413720 |
| 46 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.74119905 |
| 47 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.73974175 |
| 48 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.73676216 |
| 49 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.73008666 |
| 50 | ABC transporters_Homo sapiens_hsa02010 | 0.68517349 |
| 51 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.68202290 |
| 52 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.68005274 |
| 53 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.66979807 |
| 54 | Circadian entrainment_Homo sapiens_hsa04713 | 0.65544084 |
| 55 | Nicotine addiction_Homo sapiens_hsa05033 | 0.64390773 |
| 56 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.62581217 |
| 57 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.62120117 |
| 58 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.60697689 |
| 59 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.59130266 |
| 60 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.58412211 |
| 61 | Retinol metabolism_Homo sapiens_hsa00830 | 0.57667457 |
| 62 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.53665200 |
| 63 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.51896595 |
| 64 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.51238150 |
| 65 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.51028025 |
| 66 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.50229880 |
| 67 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.49183312 |
| 68 | Purine metabolism_Homo sapiens_hsa00230 | 0.48721023 |
| 69 | Basal transcription factors_Homo sapiens_hsa03022 | 0.47506824 |
| 70 | Renin secretion_Homo sapiens_hsa04924 | 0.46080641 |
| 71 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.44395829 |
| 72 | Bile secretion_Homo sapiens_hsa04976 | 0.44149885 |
| 73 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.40982220 |
| 74 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.40941192 |
| 75 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.40074438 |
| 76 | Insulin secretion_Homo sapiens_hsa04911 | 0.39218626 |
| 77 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.38049683 |
| 78 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.37127268 |
| 79 | Tight junction_Homo sapiens_hsa04530 | 0.36412489 |
| 80 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.34236915 |
| 81 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.32248366 |
| 82 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.30269372 |
| 83 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.30218687 |
| 84 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.29957934 |
| 85 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.29878747 |
| 86 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.28157786 |
| 87 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.24737138 |
| 88 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.22627614 |
| 89 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.21814445 |
| 90 | Alcoholism_Homo sapiens_hsa05034 | 0.21558013 |
| 91 | Long-term potentiation_Homo sapiens_hsa04720 | 0.21411237 |
| 92 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.20561066 |
| 93 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.20543815 |
| 94 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.19727212 |
| 95 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.19020086 |
| 96 | GABAergic synapse_Homo sapiens_hsa04727 | 0.17366381 |
| 97 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.16691580 |
| 98 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.14616585 |
| 99 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.14503231 |
| 100 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.14224178 |

