

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | acrosome reaction (GO:0007340) | 9.88717834 |
| 2 | fusion of sperm to egg plasma membrane (GO:0007342) | 9.80247496 |
| 3 | response to pheromone (GO:0019236) | 7.83233865 |
| 4 | plasma membrane fusion (GO:0045026) | 7.46027821 |
| 5 | spermatid development (GO:0007286) | 7.09412853 |
| 6 | microtubule depolymerization (GO:0007019) | 6.89588023 |
| 7 | multicellular organism reproduction (GO:0032504) | 6.81883627 |
| 8 | rRNA methylation (GO:0031167) | 6.79686851 |
| 9 | cellular ketone body metabolic process (GO:0046950) | 6.70390099 |
| 10 | single strand break repair (GO:0000012) | 6.54773893 |
| 11 | sperm capacitation (GO:0048240) | 6.52048801 |
| 12 | sperm-egg recognition (GO:0035036) | 6.44763753 |
| 13 | chromosome condensation (GO:0030261) | 6.36681266 |
| 14 | spermatid nucleus differentiation (GO:0007289) | 6.36240131 |
| 15 | ketone body metabolic process (GO:1902224) | 6.09954720 |
| 16 | DNA packaging (GO:0006323) | 6.03611160 |
| 17 | reproduction (GO:0000003) | 5.99095854 |
| 18 | protein polyglutamylation (GO:0018095) | 5.93953044 |
| 19 | axonemal dynein complex assembly (GO:0070286) | 5.85417692 |
| 20 | protein targeting to Golgi (GO:0000042) | 5.78907782 |
| 21 | rRNA modification (GO:0000154) | 5.77740349 |
| 22 | microtubule polymerization or depolymerization (GO:0031109) | 5.73247936 |
| 23 | calcium ion-dependent exocytosis (GO:0017156) | 5.62485388 |
| 24 | binding of sperm to zona pellucida (GO:0007339) | 5.56837802 |
| 25 | establishment of protein localization to Golgi (GO:0072600) | 5.52121562 |
| 26 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.39218849 |
| 27 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.37701094 |
| 28 | cell-cell recognition (GO:0009988) | 5.35765799 |
| 29 | spermatogenesis (GO:0007283) | 5.34011617 |
| 30 | male gamete generation (GO:0048232) | 5.32184871 |
| 31 | centriole replication (GO:0007099) | 5.00294931 |
| 32 | epithelial cilium movement (GO:0003351) | 4.98627428 |
| 33 | gamete generation (GO:0007276) | 4.86634272 |
| 34 | motile cilium assembly (GO:0044458) | 4.84839885 |
| 35 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 4.78369078 |
| 36 | sexual reproduction (GO:0019953) | 4.60145349 |
| 37 | single fertilization (GO:0007338) | 4.52318156 |
| 38 | regulation of cilium movement (GO:0003352) | 4.46389406 |
| 39 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 4.43845660 |
| 40 | organic cation transport (GO:0015695) | 4.35529619 |
| 41 | centriole assembly (GO:0098534) | 4.29288860 |
| 42 | phosphatidylethanolamine metabolic process (GO:0046337) | 4.25712998 |
| 43 | gonadal mesoderm development (GO:0007506) | 4.18651857 |
| 44 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 4.17126726 |
| 45 | negative regulation of inclusion body assembly (GO:0090084) | 4.15417789 |
| 46 | seminiferous tubule development (GO:0072520) | 4.11280144 |
| 47 | cilium movement (GO:0003341) | 4.04170655 |
| 48 | protein localization to Golgi apparatus (GO:0034067) | 4.03376321 |
| 49 | positive regulation of Rab GTPase activity (GO:0032851) | 3.92417177 |
| 50 | regulation of Rab GTPase activity (GO:0032313) | 3.92417177 |
| 51 | microtubule nucleation (GO:0007020) | 3.87131447 |
| 52 | multicellular organismal reproductive process (GO:0048609) | 3.84303369 |
| 53 | cell wall macromolecule catabolic process (GO:0016998) | 3.79180676 |
| 54 | germ cell development (GO:0007281) | 3.75740685 |
| 55 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.69919258 |
| 56 | cell wall macromolecule metabolic process (GO:0044036) | 3.68126269 |
| 57 | fertilization (GO:0009566) | 3.66341717 |
| 58 | regulation of centriole replication (GO:0046599) | 3.64856593 |
| 59 | male meiosis I (GO:0007141) | 3.64189948 |
| 60 | male meiosis (GO:0007140) | 3.63471985 |
| 61 | one-carbon compound transport (GO:0019755) | 3.62047389 |
| 62 | coenzyme catabolic process (GO:0009109) | 3.61187096 |
| 63 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.54529763 |
| 64 | microtubule severing (GO:0051013) | 3.52330425 |
| 65 | polyamine biosynthetic process (GO:0006596) | 3.44800629 |
| 66 | RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394) | 3.38811656 |
| 67 | tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) | 3.38811656 |
| 68 | RNA destabilization (GO:0050779) | 3.38701165 |
| 69 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 3.27505845 |
| 70 | left/right axis specification (GO:0070986) | 3.13193614 |
| 71 | positive regulation of T cell mediated cytotoxicity (GO:0001916) | 3.11895622 |
| 72 | piRNA metabolic process (GO:0034587) | 3.10757912 |
| 73 | axoneme assembly (GO:0035082) | 3.03482270 |
| 74 | meiosis I (GO:0007127) | 3.01484523 |
| 75 | homocysteine metabolic process (GO:0050667) | 3.00598197 |
| 76 | positive regulation of guanylate cyclase activity (GO:0031284) | 2.99508754 |
| 77 | negative regulation of granulocyte differentiation (GO:0030853) | 2.98304335 |
| 78 | positive regulation of endothelial cell differentiation (GO:0045603) | 2.95389758 |
| 79 | acrosome assembly (GO:0001675) | 2.93007268 |
| 80 | negative regulation of Rho protein signal transduction (GO:0035024) | 2.86462680 |
| 81 | histone exchange (GO:0043486) | 2.85537212 |
| 82 | negative regulation of mesenchymal cell apoptotic process (GO:2001054) | 2.84366472 |
| 83 | glycerol ether metabolic process (GO:0006662) | 2.80175310 |
| 84 | regulation of guanylate cyclase activity (GO:0031282) | 2.77798790 |
| 85 | cerebral cortex neuron differentiation (GO:0021895) | 2.74771246 |
| 86 | DNA methylation involved in gamete generation (GO:0043046) | 2.73314273 |
| 87 | NAD biosynthetic process (GO:0009435) | 2.73155962 |
| 88 | regulation of microtubule-based movement (GO:0060632) | 2.67848724 |
| 89 | regulation of T cell mediated cytotoxicity (GO:0001914) | 2.65791366 |
| 90 | ether metabolic process (GO:0018904) | 2.64763083 |
| 91 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 2.62641461 |
| 92 | cell differentiation involved in metanephros development (GO:0072202) | 2.61590519 |
| 93 | chromatin silencing (GO:0006342) | 2.60749575 |
| 94 | regulation of inclusion body assembly (GO:0090083) | 2.60511302 |
| 95 | nucleus organization (GO:0006997) | 2.59218236 |
| 96 | mast cell degranulation (GO:0043303) | 2.57226692 |
| 97 | mast cell activation involved in immune response (GO:0002279) | 2.57226692 |
| 98 | multicellular organismal development (GO:0007275) | 2.55370646 |
| 99 | polyamine metabolic process (GO:0006595) | 2.55310578 |
| 100 | sperm motility (GO:0030317) | 10.0051531 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.56171090 |
| 2 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 3.01709128 |
| 3 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.65732248 |
| 4 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.51016683 |
| 5 | FUS_26573619_Chip-Seq_HEK293_Human | 2.50862435 |
| 6 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.42295092 |
| 7 | VDR_22108803_ChIP-Seq_LS180_Human | 2.33747904 |
| 8 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.26712435 |
| 9 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.26712435 |
| 10 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.26591143 |
| 11 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.12463600 |
| 12 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.04893452 |
| 13 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.04893452 |
| 14 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 2.01966656 |
| 15 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 2.01641801 |
| 16 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.97366343 |
| 17 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.96504442 |
| 18 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.79676616 |
| 19 | P300_19829295_ChIP-Seq_ESCs_Human | 1.72999689 |
| 20 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.71316905 |
| 21 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.69884471 |
| 22 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.69720644 |
| 23 | ERA_21632823_ChIP-Seq_H3396_Human | 1.68289435 |
| 24 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.66696786 |
| 25 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.62412578 |
| 26 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.61014754 |
| 27 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.59421988 |
| 28 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.58293431 |
| 29 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.57558639 |
| 30 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.57164250 |
| 31 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.54116601 |
| 32 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.53385804 |
| 33 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.53189318 |
| 34 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.52826279 |
| 35 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.52752832 |
| 36 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.52317277 |
| 37 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.51363049 |
| 38 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.51146427 |
| 39 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.51071829 |
| 40 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.50730674 |
| 41 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.48799303 |
| 42 | AR_25329375_ChIP-Seq_VCAP_Human | 1.46750685 |
| 43 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.46369622 |
| 44 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.45972289 |
| 45 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.45972289 |
| 46 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.45127440 |
| 47 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.44789421 |
| 48 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.44378076 |
| 49 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.43899569 |
| 50 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.43438683 |
| 51 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.43390216 |
| 52 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.42346056 |
| 53 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.41920181 |
| 54 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.41006351 |
| 55 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.38812517 |
| 56 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.38664117 |
| 57 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.38211968 |
| 58 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.38051650 |
| 59 | P300_27268052_Chip-Seq_Bcells_Human | 1.37182604 |
| 60 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.33513968 |
| 61 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 1.32762917 |
| 62 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.32505372 |
| 63 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.31614540 |
| 64 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.31523789 |
| 65 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.31390423 |
| 66 | NFYB_21822215_ChIP-Seq_K562_Human | 1.30060043 |
| 67 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.29844593 |
| 68 | NCOR_22424771_ChIP-Seq_293T_Human | 1.29517833 |
| 69 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.29015020 |
| 70 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.29015020 |
| 71 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.28673650 |
| 72 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.28217491 |
| 73 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 1.27996578 |
| 74 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.27956515 |
| 75 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.27687427 |
| 76 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.26874133 |
| 77 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.26757848 |
| 78 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.25334143 |
| 79 | FOXH1_21741376_ChIP-Seq_ESCs_Human | 1.22199671 |
| 80 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.21666623 |
| 81 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.20976123 |
| 82 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.18945657 |
| 83 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.18112074 |
| 84 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.17923751 |
| 85 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.17357975 |
| 86 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.17138244 |
| 87 | TBL1_22424771_ChIP-Seq_293T_Human | 1.17092926 |
| 88 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.16850565 |
| 89 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.16387012 |
| 90 | STAT1_20625510_ChIP-Seq_HELA_Human | 1.16166038 |
| 91 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.15427981 |
| 92 | STAT3_23295773_ChIP-Seq_U87_Human | 1.15411314 |
| 93 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.15138286 |
| 94 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.14139629 |
| 95 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.13744539 |
| 96 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.12395016 |
| 97 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.11731979 |
| 98 | NFYA_21822215_ChIP-Seq_K562_Human | 1.11169868 |
| 99 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.09412796 |
| 100 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.06777048 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 9.13227315 |
| 2 | MP0005670_abnormal_white_adipose | 3.79336450 |
| 3 | MP0003878_abnormal_ear_physiology | 3.47173146 |
| 4 | MP0005377_hearing/vestibular/ear_phenot | 3.47173146 |
| 5 | MP0003698_abnormal_male_reproductive | 3.31328496 |
| 6 | MP0008995_early_reproductive_senescence | 2.93369294 |
| 7 | MP0001929_abnormal_gametogenesis | 2.90737411 |
| 8 | MP0002234_abnormal_pharynx_morphology | 2.67149650 |
| 9 | MP0000678_abnormal_parathyroid_gland | 2.15722868 |
| 10 | MP0003011_delayed_dark_adaptation | 2.09383783 |
| 11 | MP0006292_abnormal_olfactory_placode | 1.94943364 |
| 12 | MP0008877_abnormal_DNA_methylation | 1.92426890 |
| 13 | MP0000372_irregular_coat_pigmentation | 1.90618515 |
| 14 | MP0005551_abnormal_eye_electrophysiolog | 1.86646176 |
| 15 | MP0003646_muscle_fatigue | 1.85033861 |
| 16 | MP0002161_abnormal_fertility/fecundity | 1.71994078 |
| 17 | MP0005646_abnormal_pituitary_gland | 1.68168770 |
| 18 | MP0005645_abnormal_hypothalamus_physiol | 1.65402427 |
| 19 | MP0005253_abnormal_eye_physiology | 1.63989790 |
| 20 | MP0001485_abnormal_pinna_reflex | 1.63895413 |
| 21 | MP0001764_abnormal_homeostasis | 1.63655629 |
| 22 | MP0003183_abnormal_peptide_metabolism | 1.63178252 |
| 23 | MP0003136_yellow_coat_color | 1.61367905 |
| 24 | MP0005367_renal/urinary_system_phenotyp | 1.52502694 |
| 25 | MP0000516_abnormal_urinary_system | 1.52502694 |
| 26 | MP0003718_maternal_effect | 1.51607027 |
| 27 | MP0002210_abnormal_sex_determination | 1.43370461 |
| 28 | MP0000026_abnormal_inner_ear | 1.39726695 |
| 29 | MP0001963_abnormal_hearing_physiology | 1.37711499 |
| 30 | MP0009379_abnormal_foot_pigmentation | 1.37163988 |
| 31 | MP0005379_endocrine/exocrine_gland_phen | 1.36502569 |
| 32 | MP0001486_abnormal_startle_reflex | 1.33566784 |
| 33 | MP0004885_abnormal_endolymph | 1.29523909 |
| 34 | MP0002249_abnormal_larynx_morphology | 1.29208633 |
| 35 | MP0000049_abnormal_middle_ear | 1.27848859 |
| 36 | MP0001968_abnormal_touch/_nociception | 1.27153428 |
| 37 | MP0002282_abnormal_trachea_morphology | 1.25518087 |
| 38 | MP0001145_abnormal_male_reproductive | 1.25092194 |
| 39 | MP0002735_abnormal_chemical_nociception | 1.25047351 |
| 40 | MP0003252_abnormal_bile_duct | 1.22101994 |
| 41 | MP0002638_abnormal_pupillary_reflex | 1.19732629 |
| 42 | MP0000653_abnormal_sex_gland | 1.19604008 |
| 43 | MP0004142_abnormal_muscle_tone | 1.17558979 |
| 44 | MP0001348_abnormal_lacrimal_gland | 1.17110565 |
| 45 | MP0001501_abnormal_sleep_pattern | 1.12743220 |
| 46 | MP0008789_abnormal_olfactory_epithelium | 1.07539461 |
| 47 | MP0002736_abnormal_nociception_after | 1.06913520 |
| 48 | MP0000566_synostosis | 1.04788694 |
| 49 | MP0001188_hyperpigmentation | 1.03744058 |
| 50 | MP0002837_dystrophic_cardiac_calcinosis | 1.03541350 |
| 51 | MP0002822_catalepsy | 1.02400930 |
| 52 | MP0004742_abnormal_vestibular_system | 1.02279464 |
| 53 | MP0000013_abnormal_adipose_tissue | 1.01839040 |
| 54 | MP0002229_neurodegeneration | 1.01427457 |
| 55 | MP0002132_abnormal_respiratory_system | 0.98460830 |
| 56 | MP0003879_abnormal_hair_cell | 0.96489394 |
| 57 | MP0009764_decreased_sensitivity_to | 0.95144622 |
| 58 | MP0009697_abnormal_copulation | 0.94943002 |
| 59 | MP0005394_taste/olfaction_phenotype | 0.93814075 |
| 60 | MP0005499_abnormal_olfactory_system | 0.93814075 |
| 61 | MP0005075_abnormal_melanosome_morpholog | 0.93726987 |
| 62 | MP0001986_abnormal_taste_sensitivity | 0.93184247 |
| 63 | MP0002095_abnormal_skin_pigmentation | 0.92942870 |
| 64 | MP0000681_abnormal_thyroid_gland | 0.91376552 |
| 65 | MP0006276_abnormal_autonomic_nervous | 0.90616171 |
| 66 | MP0001905_abnormal_dopamine_level | 0.88558465 |
| 67 | MP0002102_abnormal_ear_morphology | 0.87868243 |
| 68 | MP0001765_abnormal_ion_homeostasis | 0.86540131 |
| 69 | MP0002138_abnormal_hepatobiliary_system | 0.84591928 |
| 70 | MP0002272_abnormal_nervous_system | 0.83161656 |
| 71 | MP0005332_abnormal_amino_acid | 0.82737811 |
| 72 | MP0006072_abnormal_retinal_apoptosis | 0.82254812 |
| 73 | MP0000003_abnormal_adipose_tissue | 0.81708279 |
| 74 | MP0000534_abnormal_ureter_morphology | 0.79726149 |
| 75 | MP0003724_increased_susceptibility_to | 0.79692749 |
| 76 | MP0002160_abnormal_reproductive_system | 0.77982635 |
| 77 | MP0002127_abnormal_cardiovascular_syste | 0.77121927 |
| 78 | MP0009046_muscle_twitch | 0.74597316 |
| 79 | MP0001661_extended_life_span | 0.73988714 |
| 80 | MP0009115_abnormal_fat_cell | 0.73640988 |
| 81 | MP0005671_abnormal_response_to | 0.73430978 |
| 82 | MP0009745_abnormal_behavioral_response | 0.73425369 |
| 83 | MP0005535_abnormal_body_temperature | 0.72825934 |
| 84 | MP0010386_abnormal_urinary_bladder | 0.71873775 |
| 85 | MP0005423_abnormal_somatic_nervous | 0.71753984 |
| 86 | MP0004133_heterotaxia | 0.71262538 |
| 87 | MP0005360_urolithiasis | 0.70963324 |
| 88 | MP0001984_abnormal_olfaction | 0.70763099 |
| 89 | MP0002938_white_spotting | 0.69682656 |
| 90 | MP0000230_abnormal_systemic_arterial | 0.68603256 |
| 91 | MP0000371_diluted_coat_color | 0.67275403 |
| 92 | MP0002733_abnormal_thermal_nociception | 0.66870240 |
| 93 | MP0008872_abnormal_physiological_respon | 0.66690705 |
| 94 | MP0002653_abnormal_ependyma_morphology | 0.63315300 |
| 95 | MP0000470_abnormal_stomach_morphology | 0.61572073 |
| 96 | MP0002067_abnormal_sensory_capabilities | 0.58720782 |
| 97 | MP0005395_other_phenotype | 0.58616587 |
| 98 | MP0002557_abnormal_social/conspecific_i | 0.56715285 |
| 99 | MP0002009_preneoplasia | 0.56045784 |
| 100 | MP0005636_abnormal_mineral_homeostasis | 0.54682061 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 5.82667011 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.56615541 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 5.56615541 |
| 4 | Hyperalaninemia (HP:0003348) | 5.14798747 |
| 5 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 5.14798747 |
| 6 | Abnormality of alanine metabolism (HP:0010916) | 5.14798747 |
| 7 | Attenuation of retinal blood vessels (HP:0007843) | 4.98223312 |
| 8 | Tubulointerstitial nephritis (HP:0001970) | 4.50415131 |
| 9 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.45704136 |
| 10 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.45704136 |
| 11 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.16864315 |
| 12 | Abnormal ciliary motility (HP:0012262) | 4.14284278 |
| 13 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.02655518 |
| 14 | Abnormal respiratory motile cilium physiology (HP:0012261) | 3.84746504 |
| 15 | Congenital sensorineural hearing impairment (HP:0008527) | 3.81555070 |
| 16 | Abnormality of macular pigmentation (HP:0008002) | 3.80145190 |
| 17 | Chronic hepatic failure (HP:0100626) | 3.65436009 |
| 18 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.58212727 |
| 19 | Cone-rod dystrophy (HP:0000548) | 3.53201065 |
| 20 | Infertility (HP:0000789) | 3.46788132 |
| 21 | Male infertility (HP:0003251) | 3.40914152 |
| 22 | Asymmetric septal hypertrophy (HP:0001670) | 3.19219060 |
| 23 | Nephronophthisis (HP:0000090) | 3.16979266 |
| 24 | Nasal polyposis (HP:0100582) | 3.14165634 |
| 25 | Generalized aminoaciduria (HP:0002909) | 3.06408086 |
| 26 | Decreased central vision (HP:0007663) | 2.99981222 |
| 27 | Polydipsia (HP:0001959) | 2.89319288 |
| 28 | Abnormal drinking behavior (HP:0030082) | 2.89319288 |
| 29 | Abnormal spermatogenesis (HP:0008669) | 2.82715905 |
| 30 | Atonic seizures (HP:0010819) | 2.72721111 |
| 31 | Amelogenesis imperfecta (HP:0000705) | 2.69254342 |
| 32 | Hyperkalemia (HP:0002153) | 2.58873723 |
| 33 | Azoospermia (HP:0000027) | 2.58291580 |
| 34 | Potter facies (HP:0002009) | 2.58211512 |
| 35 | Facial shape deformation (HP:0011334) | 2.58211512 |
| 36 | Pendular nystagmus (HP:0012043) | 2.52790908 |
| 37 | Hypoplastic ischia (HP:0003175) | 2.52401866 |
| 38 | Abnormal urine output (HP:0012590) | 2.47888548 |
| 39 | Abnormality of the renal medulla (HP:0100957) | 2.44586070 |
| 40 | Abnormality of the nasal mucosa (HP:0000433) | 2.41824222 |
| 41 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 2.40985951 |
| 42 | Resting tremor (HP:0002322) | 2.39810602 |
| 43 | Pigmentary retinal degeneration (HP:0001146) | 2.38573147 |
| 44 | Stage 5 chronic kidney disease (HP:0003774) | 2.38034733 |
| 45 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.36704153 |
| 46 | Rhinitis (HP:0012384) | 2.36353018 |
| 47 | Abnormality of DNA repair (HP:0003254) | 2.35902172 |
| 48 | Elevated erythrocyte sedimentation rate (HP:0003565) | 2.35381084 |
| 49 | Pancreatic fibrosis (HP:0100732) | 2.35350709 |
| 50 | Epiphyseal dysplasia (HP:0002656) | 2.31178436 |
| 51 | Abnormality of midbrain morphology (HP:0002418) | 2.30836570 |
| 52 | Molar tooth sign on MRI (HP:0002419) | 2.30836570 |
| 53 | Pancreatic cysts (HP:0001737) | 2.28274477 |
| 54 | Congenital stationary night blindness (HP:0007642) | 2.24077644 |
| 55 | True hermaphroditism (HP:0010459) | 2.23666453 |
| 56 | Polyuria (HP:0000103) | 2.23496102 |
| 57 | Hypoplasia of the thymus (HP:0000778) | 2.20648010 |
| 58 | Tubulointerstitial abnormality (HP:0001969) | 2.19822856 |
| 59 | Tetany (HP:0001281) | 2.17796893 |
| 60 | Sclerocornea (HP:0000647) | 2.15325393 |
| 61 | Abnormality of renal excretion (HP:0011036) | 2.15235960 |
| 62 | Chorioretinal atrophy (HP:0000533) | 2.14423286 |
| 63 | Chronic sinusitis (HP:0011109) | 2.14115112 |
| 64 | Abnormality of dental color (HP:0011073) | 2.13051476 |
| 65 | Enlarged epiphyses (HP:0010580) | 2.12577771 |
| 66 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.08367340 |
| 67 | Photophobia (HP:0000613) | 2.06140263 |
| 68 | Abnormality of the ischium (HP:0003174) | 2.03922416 |
| 69 | Ketoacidosis (HP:0001993) | 2.02778649 |
| 70 | Progressive cerebellar ataxia (HP:0002073) | 2.02522070 |
| 71 | Tubular atrophy (HP:0000092) | 2.00679998 |
| 72 | Constricted visual fields (HP:0001133) | 1.98462406 |
| 73 | Progressive microcephaly (HP:0000253) | 1.97433583 |
| 74 | Median cleft lip (HP:0000161) | 1.97084307 |
| 75 | Type II diabetes mellitus (HP:0005978) | 1.95732194 |
| 76 | Abolished electroretinogram (ERG) (HP:0000550) | 1.94848677 |
| 77 | Glycosuria (HP:0003076) | 1.93036358 |
| 78 | Abnormality of urine glucose concentration (HP:0011016) | 1.93036358 |
| 79 | Chronic bronchitis (HP:0004469) | 1.88809665 |
| 80 | Male pseudohermaphroditism (HP:0000037) | 1.85770602 |
| 81 | Increased corneal curvature (HP:0100692) | 1.82907136 |
| 82 | Keratoconus (HP:0000563) | 1.82907136 |
| 83 | Spastic paraparesis (HP:0002313) | 1.82487622 |
| 84 | Myokymia (HP:0002411) | 1.82279765 |
| 85 | Dyskinesia (HP:0100660) | 1.81146759 |
| 86 | Bronchiectasis (HP:0002110) | 1.76674562 |
| 87 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 1.75790665 |
| 88 | Optic disc pallor (HP:0000543) | 1.75719958 |
| 89 | Hypoalphalipoproteinemia (HP:0003233) | 1.75552496 |
| 90 | Congenital, generalized hypertrichosis (HP:0004540) | 1.73814723 |
| 91 | Abnormality of serum amino acid levels (HP:0003112) | 1.68778537 |
| 92 | Abnormality of potassium homeostasis (HP:0011042) | 1.68701923 |
| 93 | Abnormality of T cell physiology (HP:0011840) | 1.67519140 |
| 94 | Postaxial foot polydactyly (HP:0001830) | 1.66336423 |
| 95 | Optic nerve hypoplasia (HP:0000609) | 1.65678984 |
| 96 | Abnormality of the renal cortex (HP:0011035) | 1.64384497 |
| 97 | Renal dysplasia (HP:0000110) | 1.64334973 |
| 98 | Anencephaly (HP:0002323) | 1.62461105 |
| 99 | Cystic liver disease (HP:0006706) | 1.61448389 |
| 100 | Sensory axonal neuropathy (HP:0003390) | 1.61283863 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 6.55904246 |
| 2 | MAP4K2 | 4.94774917 |
| 3 | CDK19 | 4.89172058 |
| 4 | PLK2 | 3.54322982 |
| 5 | INSRR | 3.43089881 |
| 6 | TESK1 | 3.22643114 |
| 7 | DDR2 | 2.87100257 |
| 8 | STK38 | 2.18954732 |
| 9 | PINK1 | 2.16430344 |
| 10 | WNK4 | 2.04430912 |
| 11 | ACVR1B | 1.65697772 |
| 12 | MAPK15 | 1.59299629 |
| 13 | PNCK | 1.51885620 |
| 14 | BMPR1B | 1.49829526 |
| 15 | FRK | 1.47702627 |
| 16 | MUSK | 1.40886763 |
| 17 | ADRBK2 | 1.40199832 |
| 18 | TLK1 | 1.37780477 |
| 19 | STK38L | 1.36611683 |
| 20 | BRD4 | 1.35246293 |
| 21 | PTK2B | 1.28981104 |
| 22 | MAP3K11 | 1.25745206 |
| 23 | DYRK1B | 1.21986551 |
| 24 | ZAK | 1.20567556 |
| 25 | AKT3 | 1.15199270 |
| 26 | TAOK3 | 1.08639322 |
| 27 | WNK1 | 1.05765123 |
| 28 | CDK7 | 1.00542195 |
| 29 | OXSR1 | 0.96190993 |
| 30 | SGK494 | 0.93632420 |
| 31 | SGK223 | 0.93632420 |
| 32 | PDK1 | 0.90763483 |
| 33 | PIK3CG | 0.88661283 |
| 34 | UHMK1 | 0.82620664 |
| 35 | MARK3 | 0.82004679 |
| 36 | MST1R | 0.81401023 |
| 37 | PDPK1 | 0.78405050 |
| 38 | CAMK1G | 0.78363521 |
| 39 | GRK1 | 0.78067135 |
| 40 | NEK6 | 0.77561648 |
| 41 | PRKD3 | 0.75340165 |
| 42 | JAK3 | 0.73667181 |
| 43 | TXK | 0.72232592 |
| 44 | TIE1 | 0.72034297 |
| 45 | DYRK2 | 0.71474502 |
| 46 | ROCK1 | 0.70993112 |
| 47 | PRKG1 | 0.70507917 |
| 48 | TEC | 0.69604810 |
| 49 | TYRO3 | 0.68935564 |
| 50 | PRKG2 | 0.64502057 |
| 51 | STK39 | 0.62736277 |
| 52 | SIK2 | 0.60901198 |
| 53 | PRKCE | 0.60505548 |
| 54 | MAP3K3 | 0.59336561 |
| 55 | MAPK13 | 0.57040257 |
| 56 | ITK | 0.56107877 |
| 57 | CDK3 | 0.55309349 |
| 58 | MAP3K4 | 0.54519060 |
| 59 | NME1 | 0.53935453 |
| 60 | RPS6KA5 | 0.52428102 |
| 61 | MYLK | 0.50761093 |
| 62 | MAP4K1 | 0.50725579 |
| 63 | MAP2K2 | 0.50452060 |
| 64 | KIT | 0.50011415 |
| 65 | OBSCN | 0.49110294 |
| 66 | RPS6KA1 | 0.48057903 |
| 67 | PHKG2 | 0.47985112 |
| 68 | PHKG1 | 0.47985112 |
| 69 | SGK2 | 0.47599833 |
| 70 | DAPK2 | 0.47544960 |
| 71 | PRKACA | 0.47296622 |
| 72 | CDK9 | 0.45865098 |
| 73 | CAMK1 | 0.45122160 |
| 74 | PRKCG | 0.44661580 |
| 75 | FES | 0.44232286 |
| 76 | PRKCQ | 0.43833570 |
| 77 | RPS6KA6 | 0.42927550 |
| 78 | PKN1 | 0.40686734 |
| 79 | CSF1R | 0.40497378 |
| 80 | VRK1 | 0.39708421 |
| 81 | KDR | 0.39626982 |
| 82 | MAP2K7 | 0.39167645 |
| 83 | WNK3 | 0.39130290 |
| 84 | ADRBK1 | 0.39104337 |
| 85 | SYK | 0.38941274 |
| 86 | CCNB1 | 0.37787165 |
| 87 | SGK1 | 0.36037447 |
| 88 | PRKCH | 0.35947640 |
| 89 | RPS6KA2 | 0.35487107 |
| 90 | IKBKB | 0.34833809 |
| 91 | RPS6KL1 | 0.34159117 |
| 92 | RPS6KC1 | 0.34159117 |
| 93 | CSNK1A1 | 0.34039729 |
| 94 | PRKCA | 0.33713205 |
| 95 | ABL2 | 0.33705632 |
| 96 | CAMK2A | 0.30415234 |
| 97 | NTRK2 | 0.30012716 |
| 98 | GRK6 | 0.29698054 |
| 99 | LYN | 0.28808209 |
| 100 | PRKCI | 0.26073630 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 5.92420972 |
| 2 | Olfactory transduction_Homo sapiens_hsa04740 | 3.18781278 |
| 3 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 2.69418578 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.62360691 |
| 5 | Allograft rejection_Homo sapiens_hsa05330 | 2.58271289 |
| 6 | Graft-versus-host disease_Homo sapiens_hsa05332 | 2.51051246 |
| 7 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 2.50735439 |
| 8 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 2.47324392 |
| 9 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.94729654 |
| 10 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.91094914 |
| 11 | Phototransduction_Homo sapiens_hsa04744 | 1.84058541 |
| 12 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.82503688 |
| 13 | Taste transduction_Homo sapiens_hsa04742 | 1.79203188 |
| 14 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 1.69828030 |
| 15 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.66443032 |
| 16 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.61553704 |
| 17 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 1.53315124 |
| 18 | Morphine addiction_Homo sapiens_hsa05032 | 1.52815625 |
| 19 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.49940424 |
| 20 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.46525196 |
| 21 | Nicotine addiction_Homo sapiens_hsa05033 | 1.45988735 |
| 22 | Asthma_Homo sapiens_hsa05310 | 1.45007576 |
| 23 | Proteasome_Homo sapiens_hsa03050 | 1.44381174 |
| 24 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.40546074 |
| 25 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.36781361 |
| 26 | Huntingtons disease_Homo sapiens_hsa05016 | 1.32470685 |
| 27 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.25175200 |
| 28 | Parkinsons disease_Homo sapiens_hsa05012 | 1.23897607 |
| 29 | Salivary secretion_Homo sapiens_hsa04970 | 1.22354987 |
| 30 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.17818661 |
| 31 | RNA transport_Homo sapiens_hsa03013 | 1.17783558 |
| 32 | Viral myocarditis_Homo sapiens_hsa05416 | 1.16599233 |
| 33 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.14836976 |
| 34 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.11894455 |
| 35 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.10243240 |
| 36 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.06328753 |
| 37 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.05364973 |
| 38 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.03230454 |
| 39 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.98749914 |
| 40 | Circadian entrainment_Homo sapiens_hsa04713 | 0.97940650 |
| 41 | Retinol metabolism_Homo sapiens_hsa00830 | 0.97502783 |
| 42 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.95652778 |
| 43 | GABAergic synapse_Homo sapiens_hsa04727 | 0.94490620 |
| 44 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.90422532 |
| 45 | Basal transcription factors_Homo sapiens_hsa03022 | 0.90331678 |
| 46 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.88027705 |
| 47 | Alzheimers disease_Homo sapiens_hsa05010 | 0.86119649 |
| 48 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.85074497 |
| 49 | Homologous recombination_Homo sapiens_hsa03440 | 0.84915834 |
| 50 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.82391838 |
| 51 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.80583565 |
| 52 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.79276403 |
| 53 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.78876604 |
| 54 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.78871252 |
| 55 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.78545769 |
| 56 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.78309566 |
| 57 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.75800256 |
| 58 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.73330235 |
| 59 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.70370360 |
| 60 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.69790994 |
| 61 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.69696260 |
| 62 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.68483983 |
| 63 | Purine metabolism_Homo sapiens_hsa00230 | 0.67680241 |
| 64 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.67272152 |
| 65 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.66630690 |
| 66 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.63206863 |
| 67 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.61515813 |
| 68 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.61326129 |
| 69 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.60891580 |
| 70 | Peroxisome_Homo sapiens_hsa04146 | 0.60674932 |
| 71 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.59524427 |
| 72 | RNA degradation_Homo sapiens_hsa03018 | 0.59360971 |
| 73 | ABC transporters_Homo sapiens_hsa02010 | 0.58308717 |
| 74 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.57802489 |
| 75 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.57774660 |
| 76 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.54616186 |
| 77 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.53817388 |
| 78 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.53815773 |
| 79 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.53504127 |
| 80 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.52947942 |
| 81 | Metabolic pathways_Homo sapiens_hsa01100 | 0.50382255 |
| 82 | Legionellosis_Homo sapiens_hsa05134 | 0.49419091 |
| 83 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.47812269 |
| 84 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 0.47601243 |
| 85 | Renin secretion_Homo sapiens_hsa04924 | 0.47357563 |
| 86 | Insulin secretion_Homo sapiens_hsa04911 | 0.45695926 |
| 87 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.44286817 |
| 88 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.41630290 |
| 89 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.41607442 |
| 90 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.40986092 |
| 91 | Sulfur relay system_Homo sapiens_hsa04122 | 0.40948329 |
| 92 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.40801991 |
| 93 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.40753596 |
| 94 | Alcoholism_Homo sapiens_hsa05034 | 0.38625827 |
| 95 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.38412878 |
| 96 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.37852518 |
| 97 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.37688863 |
| 98 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.37225997 |
| 99 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.35655768 |
| 100 | Ribosome_Homo sapiens_hsa03010 | 0.32531219 |

