

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | chromosome condensation (GO:0030261) | 9.59673109 |
| 2 | DNA packaging (GO:0006323) | 9.25704800 |
| 3 | sperm capacitation (GO:0048240) | 8.78202220 |
| 4 | response to pheromone (GO:0019236) | 8.74247470 |
| 5 | microtubule depolymerization (GO:0007019) | 8.72879124 |
| 6 | plasma membrane fusion (GO:0045026) | 8.49135051 |
| 7 | spermatid development (GO:0007286) | 8.44501218 |
| 8 | spermatid nucleus differentiation (GO:0007289) | 7.75184482 |
| 9 | sperm-egg recognition (GO:0035036) | 7.74519621 |
| 10 | single strand break repair (GO:0000012) | 7.58041397 |
| 11 | binding of sperm to zona pellucida (GO:0007339) | 7.48543390 |
| 12 | multicellular organism reproduction (GO:0032504) | 7.13308541 |
| 13 | negative regulation of inclusion body assembly (GO:0090084) | 6.94316162 |
| 14 | microtubule polymerization or depolymerization (GO:0031109) | 6.90029346 |
| 15 | reproduction (GO:0000003) | 6.65383220 |
| 16 | rRNA methylation (GO:0031167) | 6.54424770 |
| 17 | calcium ion-dependent exocytosis (GO:0017156) | 6.48516492 |
| 18 | spermatogenesis (GO:0007283) | 6.38596393 |
| 19 | male gamete generation (GO:0048232) | 6.36661952 |
| 20 | cell-cell recognition (GO:0009988) | 6.35078687 |
| 21 | sexual reproduction (GO:0019953) | 6.27258768 |
| 22 | protein polyglutamylation (GO:0018095) | 6.07822015 |
| 23 | gamete generation (GO:0007276) | 5.87036683 |
| 24 | microtubule severing (GO:0051013) | 5.73495873 |
| 25 | axonemal dynein complex assembly (GO:0070286) | 5.69676388 |
| 26 | protein targeting to Golgi (GO:0000042) | 5.69147443 |
| 27 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.62665684 |
| 28 | cellular ketone body metabolic process (GO:0046950) | 5.53617069 |
| 29 | rRNA modification (GO:0000154) | 5.50497308 |
| 30 | establishment of protein localization to Golgi (GO:0072600) | 5.48453847 |
| 31 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.26802279 |
| 32 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.23759091 |
| 33 | centriole replication (GO:0007099) | 5.18971883 |
| 34 | germ cell development (GO:0007281) | 4.94111776 |
| 35 | centriole assembly (GO:0098534) | 4.89688263 |
| 36 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 4.87743377 |
| 37 | single fertilization (GO:0007338) | 4.87628865 |
| 38 | ketone body metabolic process (GO:1902224) | 4.87246991 |
| 39 | positive regulation of Rab GTPase activity (GO:0032851) | 4.87154247 |
| 40 | regulation of Rab GTPase activity (GO:0032313) | 4.87154247 |
| 41 | regulation of inclusion body assembly (GO:0090083) | 4.83936788 |
| 42 | histone H3-K9 demethylation (GO:0033169) | 4.79928770 |
| 43 | regulation of cilium movement (GO:0003352) | 4.77293227 |
| 44 | chromatin silencing (GO:0006342) | 4.75742222 |
| 45 | multicellular organismal reproductive process (GO:0048609) | 4.70002513 |
| 46 | male meiosis I (GO:0007141) | 4.65411072 |
| 47 | motile cilium assembly (GO:0044458) | 4.64405310 |
| 48 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.63693389 |
| 49 | piRNA metabolic process (GO:0034587) | 4.54699068 |
| 50 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.53991919 |
| 51 | fertilization (GO:0009566) | 4.39040105 |
| 52 | RNA destabilization (GO:0050779) | 4.35789487 |
| 53 | nucleus organization (GO:0006997) | 4.33405222 |
| 54 | regulation of centriole replication (GO:0046599) | 4.20293385 |
| 55 | gonadal mesoderm development (GO:0007506) | 4.09867295 |
| 56 | protein localization to Golgi apparatus (GO:0034067) | 4.07099384 |
| 57 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.04852968 |
| 58 | male meiosis (GO:0007140) | 4.03561658 |
| 59 | DNA methylation involved in gamete generation (GO:0043046) | 4.01004677 |
| 60 | cell wall macromolecule catabolic process (GO:0016998) | 3.93650673 |
| 61 | coenzyme catabolic process (GO:0009109) | 3.88737654 |
| 62 | epithelial cilium movement (GO:0003351) | 3.83268568 |
| 63 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.62189490 |
| 64 | seminiferous tubule development (GO:0072520) | 3.60973068 |
| 65 | regulation of microtubule-based movement (GO:0060632) | 3.60734377 |
| 66 | cell wall macromolecule metabolic process (GO:0044036) | 3.60074514 |
| 67 | meiosis I (GO:0007127) | 3.59978017 |
| 68 | synaptonemal complex assembly (GO:0007130) | 3.56020395 |
| 69 | chromosome organization involved in meiosis (GO:0070192) | 3.54490004 |
| 70 | glycerol ether metabolic process (GO:0006662) | 3.52859522 |
| 71 | response to acidic pH (GO:0010447) | 3.47368185 |
| 72 | organic cation transport (GO:0015695) | 3.45611314 |
| 73 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.44021747 |
| 74 | cerebral cortex neuron differentiation (GO:0021895) | 3.38824398 |
| 75 | cilium movement (GO:0003341) | 3.37098048 |
| 76 | cellular response to pH (GO:0071467) | 3.36468020 |
| 77 | synapsis (GO:0007129) | 3.32498718 |
| 78 | microtubule nucleation (GO:0007020) | 3.32100156 |
| 79 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.29148388 |
| 80 | polyamine biosynthetic process (GO:0006596) | 3.26454436 |
| 81 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.25425940 |
| 82 | ether metabolic process (GO:0018904) | 3.24204390 |
| 83 | musculoskeletal movement (GO:0050881) | 3.23417088 |
| 84 | multicellular organismal movement (GO:0050879) | 3.23417088 |
| 85 | protein depolymerization (GO:0051261) | 3.20492604 |
| 86 | DNA conformation change (GO:0071103) | 3.19560862 |
| 87 | meiotic nuclear division (GO:0007126) | 3.17691969 |
| 88 | synaptonemal complex organization (GO:0070193) | 3.13278105 |
| 89 | protein-DNA complex disassembly (GO:0032986) | 3.12500342 |
| 90 | nucleosome disassembly (GO:0006337) | 3.12500342 |
| 91 | negative regulation of histone methylation (GO:0031061) | 3.08393220 |
| 92 | homeostasis of number of cells within a tissue (GO:0048873) | 3.05104248 |
| 93 | multicellular organismal development (GO:0007275) | 3.04695801 |
| 94 | regulation of somitogenesis (GO:0014807) | 3.04660998 |
| 95 | gene silencing (GO:0016458) | 2.99133615 |
| 96 | cell recognition (GO:0008037) | 2.96225138 |
| 97 | glomerular visceral epithelial cell development (GO:0072015) | 2.93483977 |
| 98 | acrosome reaction (GO:0007340) | 11.9776559 |
| 99 | fusion of sperm to egg plasma membrane (GO:0007342) | 11.2451678 |
| 100 | sperm motility (GO:0030317) | 10.8509762 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.70882577 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.73894791 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.57562336 |
| 4 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.94249738 |
| 5 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.51980622 |
| 6 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.51980622 |
| 7 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 2.27936429 |
| 8 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.22167631 |
| 9 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.21532662 |
| 10 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.17612630 |
| 11 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.11633954 |
| 12 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.11633954 |
| 13 | ERA_21632823_ChIP-Seq_H3396_Human | 2.04376368 |
| 14 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.03463627 |
| 15 | RAC3_21632823_ChIP-Seq_H3396_Human | 2.00629500 |
| 16 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.92307839 |
| 17 | FUS_26573619_Chip-Seq_HEK293_Human | 1.88533005 |
| 18 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.87164339 |
| 19 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.85176594 |
| 20 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.83519997 |
| 21 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.82191242 |
| 22 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.81798163 |
| 23 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.80845529 |
| 24 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.80329988 |
| 25 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.78381745 |
| 26 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.77313346 |
| 27 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.75129265 |
| 28 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.73906556 |
| 29 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.72826885 |
| 30 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.70061901 |
| 31 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.67579868 |
| 32 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.67362985 |
| 33 | P68_20966046_ChIP-Seq_HELA_Human | 1.66149677 |
| 34 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.65238394 |
| 35 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.64506627 |
| 36 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.64128758 |
| 37 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.59792270 |
| 38 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.57939023 |
| 39 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.57659563 |
| 40 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.55710966 |
| 41 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.54027254 |
| 42 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.50615344 |
| 43 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.48606346 |
| 44 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.47695289 |
| 45 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.47678923 |
| 46 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.47569001 |
| 47 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.46721397 |
| 48 | AR_25329375_ChIP-Seq_VCAP_Human | 1.45383344 |
| 49 | P300_27268052_Chip-Seq_Bcells_Human | 1.45196868 |
| 50 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.40415756 |
| 51 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.40234969 |
| 52 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.38385472 |
| 53 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.35449366 |
| 54 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.35308384 |
| 55 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.34491448 |
| 56 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.33858443 |
| 57 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.33453931 |
| 58 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.32468148 |
| 59 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.28111340 |
| 60 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.27734854 |
| 61 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.27684797 |
| 62 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.27565778 |
| 63 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.27453143 |
| 64 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.26052022 |
| 65 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.25000729 |
| 66 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.24867515 |
| 67 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.24754193 |
| 68 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.24744052 |
| 69 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.22777272 |
| 70 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.20064272 |
| 71 | VDR_22108803_ChIP-Seq_LS180_Human | 1.19727906 |
| 72 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.19181455 |
| 73 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.19133976 |
| 74 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.18583287 |
| 75 | NFYB_21822215_ChIP-Seq_K562_Human | 1.17827846 |
| 76 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.17701979 |
| 77 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.17169065 |
| 78 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.16867337 |
| 79 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.16465425 |
| 80 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.16387844 |
| 81 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.15011335 |
| 82 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.13823100 |
| 83 | TBL1_22424771_ChIP-Seq_293T_Human | 1.13796882 |
| 84 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.13751327 |
| 85 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.13588040 |
| 86 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.12418028 |
| 87 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.12022746 |
| 88 | GATA3_26560356_Chip-Seq_TH1_Human | 1.11732611 |
| 89 | P300_19829295_ChIP-Seq_ESCs_Human | 1.11564956 |
| 90 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.11204216 |
| 91 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.10943506 |
| 92 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.10370371 |
| 93 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.09557610 |
| 94 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.07782561 |
| 95 | SA1_27219007_Chip-Seq_Bcells_Human | 1.03722812 |
| 96 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.03027150 |
| 97 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.00651016 |
| 98 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.00289173 |
| 99 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.00289173 |
| 100 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 0.99713639 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 4.98928447 |
| 2 | MP0001929_abnormal_gametogenesis | 4.60404442 |
| 3 | MP0005377_hearing/vestibular/ear_phenot | 4.23477393 |
| 4 | MP0003878_abnormal_ear_physiology | 4.23477393 |
| 5 | MP0005670_abnormal_white_adipose | 4.05538632 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.00595848 |
| 7 | MP0000678_abnormal_parathyroid_gland | 2.93952745 |
| 8 | MP0002161_abnormal_fertility/fecundity | 2.88672617 |
| 9 | MP0003718_maternal_effect | 2.65761374 |
| 10 | MP0002210_abnormal_sex_determination | 2.59884197 |
| 11 | MP0008877_abnormal_DNA_methylation | 2.49858371 |
| 12 | MP0003646_muscle_fatigue | 2.46228628 |
| 13 | MP0002132_abnormal_respiratory_system | 2.07312504 |
| 14 | MP0001145_abnormal_male_reproductive | 2.06912301 |
| 15 | MP0005410_abnormal_fertilization | 12.2074543 |
| 16 | MP0003011_delayed_dark_adaptation | 1.98233096 |
| 17 | MP0000653_abnormal_sex_gland | 1.95560066 |
| 18 | MP0002234_abnormal_pharynx_morphology | 1.85611534 |
| 19 | MP0005423_abnormal_somatic_nervous | 1.83313991 |
| 20 | MP0002249_abnormal_larynx_morphology | 1.58439359 |
| 21 | MP0005310_abnormal_salivary_gland | 1.57967966 |
| 22 | MP0005379_endocrine/exocrine_gland_phen | 1.54029175 |
| 23 | MP0008995_early_reproductive_senescence | 1.51562162 |
| 24 | MP0009053_abnormal_anal_canal | 1.39251991 |
| 25 | MP0001765_abnormal_ion_homeostasis | 1.26881422 |
| 26 | MP0001968_abnormal_touch/_nociception | 1.25333979 |
| 27 | MP0004742_abnormal_vestibular_system | 1.21620600 |
| 28 | MP0004510_myositis | 1.21509423 |
| 29 | MP0001486_abnormal_startle_reflex | 1.20805467 |
| 30 | MP0002282_abnormal_trachea_morphology | 1.18268434 |
| 31 | MP0001485_abnormal_pinna_reflex | 1.17127019 |
| 32 | MP0003879_abnormal_hair_cell | 1.08060990 |
| 33 | MP0005395_other_phenotype | 1.07497131 |
| 34 | MP0000534_abnormal_ureter_morphology | 1.02354486 |
| 35 | MP0002735_abnormal_chemical_nociception | 1.02191881 |
| 36 | MP0002138_abnormal_hepatobiliary_system | 1.01697329 |
| 37 | MP0003693_abnormal_embryo_hatching | 1.01485393 |
| 38 | MP0001963_abnormal_hearing_physiology | 1.00496080 |
| 39 | MP0002127_abnormal_cardiovascular_syste | 0.99322092 |
| 40 | MP0003077_abnormal_cell_cycle | 0.97874338 |
| 41 | MP0006292_abnormal_olfactory_placode | 0.97817110 |
| 42 | MP0003699_abnormal_female_reproductive | 0.92224197 |
| 43 | MP0000681_abnormal_thyroid_gland | 0.90800104 |
| 44 | MP0000026_abnormal_inner_ear | 0.87821603 |
| 45 | MP0002229_neurodegeneration | 0.80541778 |
| 46 | MP0005451_abnormal_body_composition | 0.78937181 |
| 47 | MP0003136_yellow_coat_color | 0.78147362 |
| 48 | MP0000955_abnormal_spinal_cord | 0.77689592 |
| 49 | MP0004859_abnormal_synaptic_plasticity | 0.73303649 |
| 50 | MP0002733_abnormal_thermal_nociception | 0.73142064 |
| 51 | MP0002067_abnormal_sensory_capabilities | 0.70600834 |
| 52 | MP0005666_abnormal_adipose_tissue | 0.67957861 |
| 53 | MP0000049_abnormal_middle_ear | 0.66364140 |
| 54 | MP0008569_lethality_at_weaning | 0.65449827 |
| 55 | MP0004233_abnormal_muscle_weight | 0.64433700 |
| 56 | MP0009115_abnormal_fat_cell | 0.64418390 |
| 57 | MP0005551_abnormal_eye_electrophysiolog | 0.64216003 |
| 58 | MP0002160_abnormal_reproductive_system | 0.63872771 |
| 59 | MP0005636_abnormal_mineral_homeostasis | 0.63846767 |
| 60 | MP0005083_abnormal_biliary_tract | 0.62523572 |
| 61 | MP0004085_abnormal_heartbeat | 0.62014902 |
| 62 | MP0002822_catalepsy | 0.61938664 |
| 63 | MP0001666_abnormal_nutrient_absorption | 0.60960849 |
| 64 | MP0008789_abnormal_olfactory_epithelium | 0.60190186 |
| 65 | MP0001119_abnormal_female_reproductive | 0.59970533 |
| 66 | MP0003119_abnormal_digestive_system | 0.59147049 |
| 67 | MP0002928_abnormal_bile_duct | 0.56219665 |
| 68 | MP0005647_abnormal_sex_gland | 0.54117656 |
| 69 | MP0003936_abnormal_reproductive_system | 0.54019987 |
| 70 | MP0002557_abnormal_social/conspecific_i | 0.53958325 |
| 71 | MP0002272_abnormal_nervous_system | 0.51809251 |
| 72 | MP0005248_abnormal_Harderian_gland | 0.51510642 |
| 73 | MP0005375_adipose_tissue_phenotype | 0.51205482 |
| 74 | MP0004957_abnormal_blastocyst_morpholog | 0.49783271 |
| 75 | MP0004036_abnormal_muscle_relaxation | 0.49218412 |
| 76 | MP0000003_abnormal_adipose_tissue | 0.46597401 |
| 77 | MP0001879_abnormal_lymphatic_vessel | 0.45286424 |
| 78 | MP0005394_taste/olfaction_phenotype | 0.43947822 |
| 79 | MP0005499_abnormal_olfactory_system | 0.43947822 |
| 80 | MP0000470_abnormal_stomach_morphology | 0.42922047 |
| 81 | MP0001970_abnormal_pain_threshold | 0.42680438 |
| 82 | MP0009697_abnormal_copulation | 0.42437720 |
| 83 | MP0005253_abnormal_eye_physiology | 0.41370349 |
| 84 | MP0002572_abnormal_emotion/affect_behav | 0.38967905 |
| 85 | MP0003172_abnormal_lysosome_physiology | 0.38811696 |
| 86 | MP0001905_abnormal_dopamine_level | 0.38157365 |
| 87 | MP0001873_stomach_inflammation | 0.38008605 |
| 88 | MP0003959_abnormal_lean_body | 0.36365953 |
| 89 | MP0008058_abnormal_DNA_repair | 0.35237297 |
| 90 | MP0002653_abnormal_ependyma_morphology | 0.34438053 |
| 91 | MP0000313_abnormal_cell_death | 0.32989771 |
| 92 | MP0000015_abnormal_ear_pigmentation | 0.32870519 |
| 93 | MP0005645_abnormal_hypothalamus_physiol | 0.32495729 |
| 94 | MP0002734_abnormal_mechanical_nocicepti | 0.32216737 |
| 95 | MP0005535_abnormal_body_temperature | 0.32080301 |
| 96 | MP0009745_abnormal_behavioral_response | 0.32073278 |
| 97 | MP0000566_synostosis | 0.32022869 |
| 98 | MP0005408_hypopigmentation | 0.31580435 |
| 99 | MP0001984_abnormal_olfaction | 0.30856615 |
| 100 | MP0000249_abnormal_blood_vessel | 0.30711662 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 8.43237362 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 5.62529749 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.62529749 |
| 4 | Bony spicule pigmentary retinopathy (HP:0007737) | 5.07741357 |
| 5 | Attenuation of retinal blood vessels (HP:0007843) | 5.06943633 |
| 6 | Tubulointerstitial nephritis (HP:0001970) | 4.85590977 |
| 7 | Asymmetric septal hypertrophy (HP:0001670) | 4.67416158 |
| 8 | Bell-shaped thorax (HP:0001591) | 4.57311859 |
| 9 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.53147353 |
| 10 | Azoospermia (HP:0000027) | 4.48370290 |
| 11 | Resting tremor (HP:0002322) | 4.46188847 |
| 12 | Abnormal ciliary motility (HP:0012262) | 4.43551092 |
| 13 | Enlarged epiphyses (HP:0010580) | 4.35901278 |
| 14 | Male infertility (HP:0003251) | 4.27346011 |
| 15 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.27175735 |
| 16 | Infertility (HP:0000789) | 4.22860711 |
| 17 | Hyperkalemia (HP:0002153) | 4.22353301 |
| 18 | Hypoplastic ischia (HP:0003175) | 4.13758931 |
| 19 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.10591877 |
| 20 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.08535801 |
| 21 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.08535801 |
| 22 | Abnormal spermatogenesis (HP:0008669) | 4.05718687 |
| 23 | Chronic hepatic failure (HP:0100626) | 3.94085526 |
| 24 | Nasal polyposis (HP:0100582) | 3.88832623 |
| 25 | Abnormality of macular pigmentation (HP:0008002) | 3.81127067 |
| 26 | Potter facies (HP:0002009) | 3.73147131 |
| 27 | Facial shape deformation (HP:0011334) | 3.73147131 |
| 28 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.69256321 |
| 29 | Abnormality of the ischium (HP:0003174) | 3.63342034 |
| 30 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.61694236 |
| 31 | Impulsivity (HP:0100710) | 3.50742992 |
| 32 | Osteomalacia (HP:0002749) | 3.41877922 |
| 33 | Cone-rod dystrophy (HP:0000548) | 3.35920756 |
| 34 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 3.31455867 |
| 35 | Abnormality of the nasal mucosa (HP:0000433) | 3.05694780 |
| 36 | Unilateral renal agenesis (HP:0000122) | 3.05677314 |
| 37 | Truncal obesity (HP:0001956) | 2.85474009 |
| 38 | Double outlet right ventricle (HP:0001719) | 2.82438223 |
| 39 | Congenital malformation of the right heart (HP:0011723) | 2.82438223 |
| 40 | Hypoplasia of the thymus (HP:0000778) | 2.79820245 |
| 41 | Generalized aminoaciduria (HP:0002909) | 2.74098318 |
| 42 | Postural instability (HP:0002172) | 2.67399725 |
| 43 | Nephronophthisis (HP:0000090) | 2.67143353 |
| 44 | Horizontal nystagmus (HP:0000666) | 2.64280657 |
| 45 | Abnormality of the aortic arch (HP:0012303) | 2.59015255 |
| 46 | Progressive sensorineural hearing impairment (HP:0000408) | 2.57722201 |
| 47 | Stage 5 chronic kidney disease (HP:0003774) | 2.53118917 |
| 48 | Flattened epiphyses (HP:0003071) | 2.52575907 |
| 49 | Abnormal urine output (HP:0012590) | 2.50972769 |
| 50 | Rhinitis (HP:0012384) | 2.49113823 |
| 51 | Progressive hearing impairment (HP:0001730) | 2.48022486 |
| 52 | Renal dysplasia (HP:0000110) | 2.45224031 |
| 53 | Tubulointerstitial abnormality (HP:0001969) | 2.44209904 |
| 54 | Abnormality of the costochondral junction (HP:0000919) | 2.37624573 |
| 55 | Abnormality of potassium homeostasis (HP:0011042) | 2.37470112 |
| 56 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 2.34022456 |
| 57 | Absent epiphyses (HP:0010577) | 2.34022456 |
| 58 | Abnormality of the renal medulla (HP:0100957) | 2.32790864 |
| 59 | Hypophosphatemic rickets (HP:0004912) | 2.31871178 |
| 60 | Epiphyseal dysplasia (HP:0002656) | 2.31815220 |
| 61 | Hypoalphalipoproteinemia (HP:0003233) | 2.30224811 |
| 62 | Abnormality of renal excretion (HP:0011036) | 2.26665746 |
| 63 | Abnormal drinking behavior (HP:0030082) | 2.18106766 |
| 64 | Polydipsia (HP:0001959) | 2.18106766 |
| 65 | Progressive cerebellar ataxia (HP:0002073) | 2.17948110 |
| 66 | Menstrual irregularities (HP:0000858) | 2.17759707 |
| 67 | Abnormality of the parathyroid morphology (HP:0011766) | 2.17178056 |
| 68 | Abnormality of the pubic bones (HP:0003172) | 2.15807098 |
| 69 | Bowel incontinence (HP:0002607) | 2.10942635 |
| 70 | Ventricular tachycardia (HP:0004756) | 2.09708779 |
| 71 | Hypoparathyroidism (HP:0000829) | 2.07433035 |
| 72 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.07311723 |
| 73 | Amelogenesis imperfecta (HP:0000705) | 2.06228797 |
| 74 | Upper limb muscle weakness (HP:0003484) | 2.05381706 |
| 75 | Portal hypertension (HP:0001409) | 2.05277397 |
| 76 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 2.04934191 |
| 77 | Renovascular hypertension (HP:0100817) | 2.04167566 |
| 78 | Abnormality of dental color (HP:0011073) | 1.98683001 |
| 79 | Polyuria (HP:0000103) | 1.96760525 |
| 80 | Tetany (HP:0001281) | 1.94450321 |
| 81 | Hyponatremia (HP:0002902) | 1.93824963 |
| 82 | Abnormal large intestine physiology (HP:0012700) | 1.93209487 |
| 83 | Bronchiectasis (HP:0002110) | 1.90207245 |
| 84 | Abnormality of the hepatic vasculature (HP:0006707) | 1.89337628 |
| 85 | Abnormality of femoral epiphyses (HP:0006499) | 1.87586208 |
| 86 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 1.87586208 |
| 87 | Hyperthyroidism (HP:0000836) | 1.87521662 |
| 88 | Flat capital femoral epiphysis (HP:0003370) | 1.87423862 |
| 89 | Short ribs (HP:0000773) | 1.86756473 |
| 90 | Decreased central vision (HP:0007663) | 1.85129618 |
| 91 | Focal segmental glomerulosclerosis (HP:0000097) | 1.82926315 |
| 92 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 1.80553170 |
| 93 | Abnormality of the femoral head (HP:0003368) | 1.79197690 |
| 94 | Protuberant abdomen (HP:0001538) | 1.78361156 |
| 95 | Transposition of the great arteries (HP:0001669) | 1.77377317 |
| 96 | Abnormal connection of the cardiac segments (HP:0011545) | 1.77377317 |
| 97 | Abnormal ventriculo-arterial connection (HP:0011563) | 1.77377317 |
| 98 | Peripheral hypomyelination (HP:0007182) | 1.75832149 |
| 99 | Atelectasis (HP:0100750) | 1.75201523 |
| 100 | Widely patent fontanelles and sutures (HP:0004492) | 1.74999029 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 7.57310036 |
| 2 | TESK1 | 5.50098312 |
| 3 | DDR2 | 5.00835483 |
| 4 | PNCK | 4.70893344 |
| 5 | INSRR | 4.12554585 |
| 6 | MAP4K2 | 3.52844448 |
| 7 | PLK2 | 3.06145060 |
| 8 | STK38 | 2.87926675 |
| 9 | BRD4 | 2.66759630 |
| 10 | CAMK1G | 2.65166654 |
| 11 | PRKD3 | 2.08876081 |
| 12 | MAPK15 | 2.06664260 |
| 13 | STK38L | 2.00104060 |
| 14 | WNK1 | 1.80841595 |
| 15 | CDK12 | 1.79252244 |
| 16 | MST1R | 1.68844309 |
| 17 | CDK7 | 1.68175247 |
| 18 | PTK2B | 1.62505580 |
| 19 | PDPK1 | 1.54535901 |
| 20 | MET | 1.52940617 |
| 21 | MAP3K9 | 1.52184468 |
| 22 | KSR2 | 1.45729871 |
| 23 | PDK1 | 1.44803256 |
| 24 | NEK6 | 1.41901862 |
| 25 | PIK3CG | 1.38813293 |
| 26 | DYRK1B | 1.17706909 |
| 27 | BRAF | 1.01906375 |
| 28 | CDK3 | 0.89151600 |
| 29 | MAP3K2 | 0.86042330 |
| 30 | CDK4 | 0.85385408 |
| 31 | CDK19 | 0.79647965 |
| 32 | ARAF | 0.78970522 |
| 33 | MAP2K2 | 0.78522513 |
| 34 | UHMK1 | 0.68933266 |
| 35 | FRK | 0.64578043 |
| 36 | CAMK1 | 0.63442134 |
| 37 | TYRO3 | 0.62188481 |
| 38 | AKT3 | 0.61836720 |
| 39 | MAP3K8 | 0.61824014 |
| 40 | RPS6KA1 | 0.59353545 |
| 41 | PRKG1 | 0.57929106 |
| 42 | ICK | 0.57780371 |
| 43 | CDK2 | 0.55796631 |
| 44 | CHEK1 | 0.52329348 |
| 45 | WNK4 | 0.51927949 |
| 46 | STK39 | 0.51467203 |
| 47 | MAP3K13 | 0.51410863 |
| 48 | ROCK1 | 0.51274750 |
| 49 | CDK1 | 0.49045379 |
| 50 | RPS6KA2 | 0.48290046 |
| 51 | CAMK1D | 0.47566638 |
| 52 | LATS1 | 0.46347060 |
| 53 | LATS2 | 0.45654230 |
| 54 | GSK3B | 0.44925478 |
| 55 | PRKG2 | 0.43769564 |
| 56 | PRKAA2 | 0.43574368 |
| 57 | BMPR1B | 0.41570761 |
| 58 | SIK2 | 0.41294281 |
| 59 | MTOR | 0.40034315 |
| 60 | MAPK1 | 0.39243313 |
| 61 | MAP3K7 | 0.38660480 |
| 62 | CSF1R | 0.37294753 |
| 63 | OXSR1 | 0.35376778 |
| 64 | BRSK1 | 0.34712085 |
| 65 | MARK2 | 0.34299926 |
| 66 | RPS6KL1 | 0.33728423 |
| 67 | RPS6KC1 | 0.33728423 |
| 68 | ACVR1B | 0.33703280 |
| 69 | RPS6KA6 | 0.33015090 |
| 70 | MAP3K11 | 0.31360856 |
| 71 | PRKCZ | 0.30171109 |
| 72 | CDK8 | 0.29922855 |
| 73 | MAPK8 | 0.27788841 |
| 74 | CAMK4 | 0.27552465 |
| 75 | MAPK11 | 0.27034036 |
| 76 | BMX | 0.27018174 |
| 77 | MAP3K1 | 0.26568459 |
| 78 | SGK1 | 0.25822190 |
| 79 | MUSK | 0.24875510 |
| 80 | MAPK14 | 0.24696326 |
| 81 | AURKA | 0.23033256 |
| 82 | MAPK10 | 0.22467269 |
| 83 | PRKCG | 0.21832140 |
| 84 | NUAK1 | 0.21744497 |
| 85 | SGK494 | 0.21303905 |
| 86 | SGK223 | 0.21303905 |
| 87 | RET | 0.21193385 |
| 88 | PLK1 | 0.19095920 |
| 89 | TAF1 | 0.18189444 |
| 90 | AKT1 | 0.16878480 |
| 91 | NEK2 | 0.15420714 |
| 92 | NTRK3 | 0.14172464 |
| 93 | MAP3K4 | 0.13772417 |
| 94 | PRKAA1 | 0.12537862 |
| 95 | PRKCB | 0.12058551 |
| 96 | CDK9 | 0.11174054 |
| 97 | PASK | 0.11102543 |
| 98 | TESK2 | 0.08680110 |
| 99 | MAP2K1 | 0.08381140 |
| 100 | PRKACB | 0.08048078 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 7.95914284 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 5.77542221 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.82570015 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.62844953 |
| 5 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 2.48232621 |
| 6 | RNA transport_Homo sapiens_hsa03013 | 2.14164859 |
| 7 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.97665233 |
| 8 | Taste transduction_Homo sapiens_hsa04742 | 1.82938607 |
| 9 | Allograft rejection_Homo sapiens_hsa05330 | 1.70004636 |
| 10 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.69385156 |
| 11 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.66443114 |
| 12 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.62270915 |
| 13 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.60034606 |
| 14 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.59467452 |
| 15 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.55302644 |
| 16 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.54977349 |
| 17 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.49806534 |
| 18 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.47244751 |
| 19 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.39028695 |
| 20 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.25271309 |
| 21 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.24626771 |
| 22 | Viral myocarditis_Homo sapiens_hsa05416 | 1.23359772 |
| 23 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.21051673 |
| 24 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.20595899 |
| 25 | Basal transcription factors_Homo sapiens_hsa03022 | 1.19379030 |
| 26 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.16488701 |
| 27 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 1.13477502 |
| 28 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.12963688 |
| 29 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.12580030 |
| 30 | Endocytosis_Homo sapiens_hsa04144 | 1.04948285 |
| 31 | Phototransduction_Homo sapiens_hsa04744 | 1.04103838 |
| 32 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.98727825 |
| 33 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.97832510 |
| 34 | Influenza A_Homo sapiens_hsa05164 | 0.91721640 |
| 35 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.89885844 |
| 36 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.89417230 |
| 37 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.86470091 |
| 38 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.83433395 |
| 39 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.82705590 |
| 40 | Salivary secretion_Homo sapiens_hsa04970 | 0.80511636 |
| 41 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.80252404 |
| 42 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.75953326 |
| 43 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.75865700 |
| 44 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.75189172 |
| 45 | ABC transporters_Homo sapiens_hsa02010 | 0.74471979 |
| 46 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.73773892 |
| 47 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.72652301 |
| 48 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.70069884 |
| 49 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.69386595 |
| 50 | Morphine addiction_Homo sapiens_hsa05032 | 0.67760463 |
| 51 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.64987875 |
| 52 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.63374713 |
| 53 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.63283635 |
| 54 | Purine metabolism_Homo sapiens_hsa00230 | 0.62934291 |
| 55 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.59857766 |
| 56 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.59470057 |
| 57 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.58955245 |
| 58 | Cell cycle_Homo sapiens_hsa04110 | 0.57863479 |
| 59 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.56404064 |
| 60 | Nicotine addiction_Homo sapiens_hsa05033 | 0.56102451 |
| 61 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.52560293 |
| 62 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.52216848 |
| 63 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.52214417 |
| 64 | Retinol metabolism_Homo sapiens_hsa00830 | 0.51949469 |
| 65 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.51249342 |
| 66 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.49865646 |
| 67 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.44895314 |
| 68 | Circadian entrainment_Homo sapiens_hsa04713 | 0.44695878 |
| 69 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.44201554 |
| 70 | Base excision repair_Homo sapiens_hsa03410 | 0.43268988 |
| 71 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.42706332 |
| 72 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.41964619 |
| 73 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.39256673 |
| 74 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.37632328 |
| 75 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.37076173 |
| 76 | Prostate cancer_Homo sapiens_hsa05215 | 0.36092984 |
| 77 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.35007813 |
| 78 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.34372343 |
| 79 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.34167900 |
| 80 | Insulin secretion_Homo sapiens_hsa04911 | 0.33832502 |
| 81 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.32914683 |
| 82 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.32537765 |
| 83 | Lysine degradation_Homo sapiens_hsa00310 | 0.29434733 |
| 84 | Homologous recombination_Homo sapiens_hsa03440 | 0.29276807 |
| 85 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.28970926 |
| 86 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.28280692 |
| 87 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.27931505 |
| 88 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.27888574 |
| 89 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.27861170 |
| 90 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.26794247 |
| 91 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.25725723 |
| 92 | Bile secretion_Homo sapiens_hsa04976 | 0.25173815 |
| 93 | Renin secretion_Homo sapiens_hsa04924 | 0.24475239 |
| 94 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.23952270 |
| 95 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.23440135 |
| 96 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.22748339 |
| 97 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.22426751 |
| 98 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.21710407 |
| 99 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.20767266 |
| 100 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.19976422 |

