

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | fusion of sperm to egg plasma membrane (GO:0007342) | 9.92421670 |
| 2 | sperm capacitation (GO:0048240) | 7.99514869 |
| 3 | chromosome condensation (GO:0030261) | 7.98979467 |
| 4 | spermatid development (GO:0007286) | 7.75230396 |
| 5 | DNA packaging (GO:0006323) | 7.66611700 |
| 6 | plasma membrane fusion (GO:0045026) | 7.51439677 |
| 7 | response to pheromone (GO:0019236) | 7.47474828 |
| 8 | sperm-egg recognition (GO:0035036) | 7.22104872 |
| 9 | microtubule depolymerization (GO:0007019) | 7.15718567 |
| 10 | spermatid nucleus differentiation (GO:0007289) | 7.13820462 |
| 11 | single strand break repair (GO:0000012) | 7.13155315 |
| 12 | multicellular organism reproduction (GO:0032504) | 7.13120977 |
| 13 | binding of sperm to zona pellucida (GO:0007339) | 7.05538647 |
| 14 | microtubule polymerization or depolymerization (GO:0031109) | 6.32300344 |
| 15 | reproduction (GO:0000003) | 6.29352035 |
| 16 | protein targeting to Golgi (GO:0000042) | 6.05925326 |
| 17 | rRNA methylation (GO:0031167) | 6.01938422 |
| 18 | calcium ion-dependent exocytosis (GO:0017156) | 6.01324128 |
| 19 | centriole replication (GO:0007099) | 6.01098207 |
| 20 | cell-cell recognition (GO:0009988) | 5.96435785 |
| 21 | spermatogenesis (GO:0007283) | 5.88905304 |
| 22 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.88173382 |
| 23 | protein polyglutamylation (GO:0018095) | 5.87870879 |
| 24 | establishment of protein localization to Golgi (GO:0072600) | 5.86888028 |
| 25 | male gamete generation (GO:0048232) | 5.86822493 |
| 26 | axonemal dynein complex assembly (GO:0070286) | 5.77958642 |
| 27 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.61495306 |
| 28 | gamete generation (GO:0007276) | 5.49480084 |
| 29 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.42828708 |
| 30 | centriole assembly (GO:0098534) | 5.13538757 |
| 31 | negative regulation of inclusion body assembly (GO:0090084) | 5.10689343 |
| 32 | single fertilization (GO:0007338) | 5.03183528 |
| 33 | microtubule severing (GO:0051013) | 5.00908276 |
| 34 | regulation of centriole replication (GO:0046599) | 5.00363805 |
| 35 | regulation of mesoderm development (GO:2000380) | 4.93816824 |
| 36 | rRNA modification (GO:0000154) | 4.92868795 |
| 37 | sexual reproduction (GO:0019953) | 4.92802228 |
| 38 | germ cell development (GO:0007281) | 4.67743452 |
| 39 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.59940531 |
| 40 | regulation of cilium movement (GO:0003352) | 4.51209471 |
| 41 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.50969413 |
| 42 | seminiferous tubule development (GO:0072520) | 4.44226981 |
| 43 | multicellular organismal reproductive process (GO:0048609) | 4.39749359 |
| 44 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.38936944 |
| 45 | cellular ketone body metabolic process (GO:0046950) | 4.38181298 |
| 46 | epithelial cilium movement (GO:0003351) | 4.30661393 |
| 47 | regulation of Rab GTPase activity (GO:0032313) | 4.28145949 |
| 48 | positive regulation of Rab GTPase activity (GO:0032851) | 4.28145949 |
| 49 | motile cilium assembly (GO:0044458) | 4.27881578 |
| 50 | protein localization to Golgi apparatus (GO:0034067) | 4.25206849 |
| 51 | fertilization (GO:0009566) | 4.13314431 |
| 52 | histone exchange (GO:0043486) | 4.06806732 |
| 53 | RNA destabilization (GO:0050779) | 3.99133872 |
| 54 | ketone body metabolic process (GO:1902224) | 3.83145336 |
| 55 | cilium movement (GO:0003341) | 3.74981650 |
| 56 | chromatin silencing (GO:0006342) | 3.73995852 |
| 57 | nucleus organization (GO:0006997) | 3.72258050 |
| 58 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 3.65342297 |
| 59 | cell wall macromolecule metabolic process (GO:0044036) | 3.62362484 |
| 60 | regulation of inclusion body assembly (GO:0090083) | 3.61390806 |
| 61 | organic cation transport (GO:0015695) | 3.57038605 |
| 62 | coenzyme catabolic process (GO:0009109) | 3.53021279 |
| 63 | cell wall macromolecule catabolic process (GO:0016998) | 3.48681223 |
| 64 | L-serine transport (GO:0015825) | 3.46655844 |
| 65 | response to acidic pH (GO:0010447) | 3.43586980 |
| 66 | glycerol ether metabolic process (GO:0006662) | 3.35687379 |
| 67 | cerebral cortex neuron differentiation (GO:0021895) | 3.34786081 |
| 68 | protein-DNA complex disassembly (GO:0032986) | 3.32866363 |
| 69 | nucleosome disassembly (GO:0006337) | 3.32866363 |
| 70 | male meiosis (GO:0007140) | 3.32206873 |
| 71 | glomerular visceral epithelial cell development (GO:0072015) | 3.31094297 |
| 72 | centrosome duplication (GO:0051298) | 3.30429645 |
| 73 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.23529041 |
| 74 | polyamine biosynthetic process (GO:0006596) | 3.16754051 |
| 75 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 3.16469059 |
| 76 | genitalia morphogenesis (GO:0035112) | 3.14276911 |
| 77 | glomerular epithelial cell development (GO:0072310) | 3.10547942 |
| 78 | ether metabolic process (GO:0018904) | 3.07505112 |
| 79 | cellular response to pH (GO:0071467) | 3.07182527 |
| 80 | multicellular organismal movement (GO:0050879) | 3.06608643 |
| 81 | musculoskeletal movement (GO:0050881) | 3.06608643 |
| 82 | mitochondrial fission (GO:0000266) | 3.06516587 |
| 83 | somite rostral/caudal axis specification (GO:0032525) | 3.04247722 |
| 84 | anterior/posterior axis specification, embryo (GO:0008595) | 2.95073581 |
| 85 | microtubule nucleation (GO:0007020) | 2.94826208 |
| 86 | positive regulation of gastrulation (GO:2000543) | 2.93198220 |
| 87 | histone H3-K9 demethylation (GO:0033169) | 2.89411105 |
| 88 | regulation of meiosis I (GO:0060631) | 2.89130563 |
| 89 | piRNA metabolic process (GO:0034587) | 2.86465632 |
| 90 | multicellular organismal development (GO:0007275) | 2.85301456 |
| 91 | cell migration involved in gastrulation (GO:0042074) | 2.85124362 |
| 92 | serine transport (GO:0032329) | 2.82558417 |
| 93 | cell recognition (GO:0008037) | 2.80025663 |
| 94 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 2.79647811 |
| 95 | positive regulation of skeletal muscle tissue development (GO:0048643) | 2.79509497 |
| 96 | regulation of microtubule-based movement (GO:0060632) | 2.78242037 |
| 97 | histone mRNA catabolic process (GO:0071044) | 2.78123832 |
| 98 | peptidyl-threonine dephosphorylation (GO:0035970) | 2.77650315 |
| 99 | acrosome reaction (GO:0007340) | 10.9187966 |
| 100 | sperm motility (GO:0030317) | 10.7758035 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.92347461 |
| 2 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.83887063 |
| 3 | FUS_26573619_Chip-Seq_HEK293_Human | 2.80950271 |
| 4 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.76914729 |
| 5 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.67141625 |
| 6 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.64599942 |
| 7 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.64599942 |
| 8 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.56631228 |
| 9 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.56631228 |
| 10 | * SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 2.29027172 |
| 11 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.27825367 |
| 12 | * SMAD3_21741376_ChIP-Seq_EPCs_Human | 2.27801634 |
| 13 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.27760731 |
| 14 | * SMAD4_21741376_ChIP-Seq_EPCs_Human | 2.20790658 |
| 15 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 2.20120722 |
| 16 | P300_19829295_ChIP-Seq_ESCs_Human | 2.15211258 |
| 17 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.13132206 |
| 18 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 2.11520701 |
| 19 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 2.09388104 |
| 20 | ER_23166858_ChIP-Seq_MCF-7_Human | 2.02766503 |
| 21 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.02371398 |
| 22 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.99541869 |
| 23 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.92471138 |
| 24 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.91934651 |
| 25 | AR_25329375_ChIP-Seq_VCAP_Human | 1.90330820 |
| 26 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.89949007 |
| 27 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 1.86627622 |
| 28 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.78803137 |
| 29 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.73430826 |
| 30 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.73036786 |
| 31 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.70463960 |
| 32 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.70069520 |
| 33 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.63762317 |
| 34 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.61677037 |
| 35 | ERA_21632823_ChIP-Seq_H3396_Human | 1.61196827 |
| 36 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.60458789 |
| 37 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.60249275 |
| 38 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.59833036 |
| 39 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.58111120 |
| 40 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.53285312 |
| 41 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.52637405 |
| 42 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.52637405 |
| 43 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.51636529 |
| 44 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.50928047 |
| 45 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.50244012 |
| 46 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.48848139 |
| 47 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.48094521 |
| 48 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.45888440 |
| 49 | VDR_22108803_ChIP-Seq_LS180_Human | 1.43925221 |
| 50 | SMAD3_21741376_ChIP-Seq_HESCs_Human | 1.37296556 |
| 51 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.35833277 |
| 52 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.34386816 |
| 53 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.33589866 |
| 54 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.33119423 |
| 55 | STAT3_23295773_ChIP-Seq_U87_Human | 1.32587111 |
| 56 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.32479637 |
| 57 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.31763248 |
| 58 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.31332827 |
| 59 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.31089245 |
| 60 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.30315162 |
| 61 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.30269781 |
| 62 | TBL1_22424771_ChIP-Seq_293T_Human | 1.29290940 |
| 63 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.27557692 |
| 64 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.26261823 |
| 65 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.24034669 |
| 66 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.24008156 |
| 67 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.22839958 |
| 68 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.22312369 |
| 69 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.21429097 |
| 70 | NFYB_21822215_ChIP-Seq_K562_Human | 1.20411336 |
| 71 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.19476736 |
| 72 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.18986536 |
| 73 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.18447641 |
| 74 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.16321397 |
| 75 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.11599706 |
| 76 | * GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.11462950 |
| 77 | KDM2B_26808549_Chip-Seq_REH_Human | 1.11159284 |
| 78 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.10228626 |
| 79 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.10202185 |
| 80 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.09584952 |
| 81 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.08572178 |
| 82 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.08276838 |
| 83 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.07131476 |
| 84 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.07107016 |
| 85 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.06961739 |
| 86 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.06851605 |
| 87 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.06639216 |
| 88 | * CTCF_27219007_Chip-Seq_Bcells_Human | 1.05345126 |
| 89 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.04958009 |
| 90 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.04778011 |
| 91 | * ERG_20517297_ChIP-Seq_VCAP_Human | 1.04609394 |
| 92 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.03672457 |
| 93 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.03174743 |
| 94 | TCF4_23295773_ChIP-Seq_U87_Human | 1.02265511 |
| 95 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.02243282 |
| 96 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.00916457 |
| 97 | FOXH1_21741376_ChIP-Seq_ESCs_Human | 1.00652991 |
| 98 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 1.00626520 |
| 99 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.00621625 |
| 100 | CDX2_22108803_ChIP-Seq_LS180_Human | 1.00597809 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 4.04608222 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 3.78097094 |
| 3 | MP0003878_abnormal_ear_physiology | 3.78097094 |
| 4 | MP0001929_abnormal_gametogenesis | 3.75711057 |
| 5 | MP0005670_abnormal_white_adipose | 3.58661596 |
| 6 | MP0003890_abnormal_embryonic-extraembry | 3.54797339 |
| 7 | MP0003718_maternal_effect | 2.86541843 |
| 8 | MP0001348_abnormal_lacrimal_gland | 2.72480966 |
| 9 | MP0005394_taste/olfaction_phenotype | 2.65032435 |
| 10 | MP0005499_abnormal_olfactory_system | 2.65032435 |
| 11 | MP0002161_abnormal_fertility/fecundity | 2.32638645 |
| 12 | MP0003119_abnormal_digestive_system | 2.31341725 |
| 13 | MP0002132_abnormal_respiratory_system | 2.27725514 |
| 14 | MP0001984_abnormal_olfaction | 2.26624400 |
| 15 | MP0008004_abnormal_stomach_pH | 2.05751657 |
| 16 | MP0005410_abnormal_fertilization | 10.8485388 |
| 17 | MP0002210_abnormal_sex_determination | 1.96461656 |
| 18 | MP0001485_abnormal_pinna_reflex | 1.91787012 |
| 19 | MP0002234_abnormal_pharynx_morphology | 1.85778049 |
| 20 | MP0009053_abnormal_anal_canal | 1.82202051 |
| 21 | MP0002282_abnormal_trachea_morphology | 1.79975241 |
| 22 | MP0001145_abnormal_male_reproductive | 1.61097797 |
| 23 | MP0000653_abnormal_sex_gland | 1.53906817 |
| 24 | MP0005423_abnormal_somatic_nervous | 1.52785418 |
| 25 | MP0002138_abnormal_hepatobiliary_system | 1.50080496 |
| 26 | MP0002127_abnormal_cardiovascular_syste | 1.47101340 |
| 27 | MP0003646_muscle_fatigue | 1.42362904 |
| 28 | MP0005367_renal/urinary_system_phenotyp | 1.35678381 |
| 29 | MP0000516_abnormal_urinary_system | 1.35678381 |
| 30 | MP0008789_abnormal_olfactory_epithelium | 1.33242249 |
| 31 | MP0000049_abnormal_middle_ear | 1.32138673 |
| 32 | MP0003011_delayed_dark_adaptation | 1.29890115 |
| 33 | MP0008877_abnormal_DNA_methylation | 1.29476998 |
| 34 | MP0008995_early_reproductive_senescence | 1.29102968 |
| 35 | MP0005379_endocrine/exocrine_gland_phen | 1.25570061 |
| 36 | MP0001486_abnormal_startle_reflex | 1.22719846 |
| 37 | MP0002249_abnormal_larynx_morphology | 1.22057154 |
| 38 | MP0000678_abnormal_parathyroid_gland | 1.21248143 |
| 39 | MP0006292_abnormal_olfactory_placode | 1.21220337 |
| 40 | MP0003136_yellow_coat_color | 1.19155039 |
| 41 | MP0002254_reproductive_system_inflammat | 1.18246212 |
| 42 | MP0005395_other_phenotype | 1.18206668 |
| 43 | MP0004085_abnormal_heartbeat | 1.04516930 |
| 44 | MP0003693_abnormal_embryo_hatching | 0.99152603 |
| 45 | MP0001963_abnormal_hearing_physiology | 0.98316295 |
| 46 | MP0005551_abnormal_eye_electrophysiolog | 0.91243154 |
| 47 | MP0001968_abnormal_touch/_nociception | 0.89890359 |
| 48 | MP0005253_abnormal_eye_physiology | 0.88278756 |
| 49 | MP0003936_abnormal_reproductive_system | 0.87622207 |
| 50 | MP0004957_abnormal_blastocyst_morpholog | 0.82696412 |
| 51 | MP0003283_abnormal_digestive_organ | 0.82534308 |
| 52 | MP0004510_myositis | 0.82033373 |
| 53 | MP0003937_abnormal_limbs/digits/tail_de | 0.80812591 |
| 54 | MP0001293_anophthalmia | 0.80700179 |
| 55 | MP0000026_abnormal_inner_ear | 0.80162677 |
| 56 | MP0004133_heterotaxia | 0.79897823 |
| 57 | MP0000534_abnormal_ureter_morphology | 0.79878473 |
| 58 | MP0003077_abnormal_cell_cycle | 0.79333450 |
| 59 | MP0003195_calcinosis | 0.78923596 |
| 60 | MP0004742_abnormal_vestibular_system | 0.78504129 |
| 61 | MP0002160_abnormal_reproductive_system | 0.76841657 |
| 62 | MP0001666_abnormal_nutrient_absorption | 0.72554349 |
| 63 | MP0004264_abnormal_extraembryonic_tissu | 0.69998553 |
| 64 | MP0002735_abnormal_chemical_nociception | 0.68924948 |
| 65 | MP0002102_abnormal_ear_morphology | 0.68700714 |
| 66 | MP0003137_abnormal_impulse_conducting | 0.68424825 |
| 67 | MP0002109_abnormal_limb_morphology | 0.68392590 |
| 68 | MP0002084_abnormal_developmental_patter | 0.67773159 |
| 69 | MP0002932_abnormal_joint_morphology | 0.64324994 |
| 70 | MP0005647_abnormal_sex_gland | 0.63076886 |
| 71 | MP0001765_abnormal_ion_homeostasis | 0.62341880 |
| 72 | MP0001286_abnormal_eye_development | 0.61575160 |
| 73 | MP0009115_abnormal_fat_cell | 0.61262390 |
| 74 | MP0005391_vision/eye_phenotype | 0.60696467 |
| 75 | MP0002085_abnormal_embryonic_tissue | 0.58945457 |
| 76 | MP0009697_abnormal_copulation | 0.58828852 |
| 77 | MP0000470_abnormal_stomach_morphology | 0.58177393 |
| 78 | MP0003699_abnormal_female_reproductive | 0.57777648 |
| 79 | MP0000955_abnormal_spinal_cord | 0.57570615 |
| 80 | MP0001672_abnormal_embryogenesis/_devel | 0.56812749 |
| 81 | MP0005380_embryogenesis_phenotype | 0.56812749 |
| 82 | MP0002067_abnormal_sensory_capabilities | 0.55052013 |
| 83 | MP0003385_abnormal_body_wall | 0.53795288 |
| 84 | MP0010030_abnormal_orbit_morphology | 0.52920321 |
| 85 | MP0002822_catalepsy | 0.52100669 |
| 86 | MP0003315_abnormal_perineum_morphology | 0.51861510 |
| 87 | MP0003880_abnormal_central_pattern | 0.50934107 |
| 88 | MP0005248_abnormal_Harderian_gland | 0.50783777 |
| 89 | MP0002229_neurodegeneration | 0.50733260 |
| 90 | MP0002115_abnormal_skeleton_extremities | 0.50421992 |
| 91 | MP0005310_abnormal_salivary_gland | 0.48536972 |
| 92 | MP0003879_abnormal_hair_cell | 0.47987967 |
| 93 | MP0001905_abnormal_dopamine_level | 0.47723454 |
| 94 | MP0004084_abnormal_cardiac_muscle | 0.46410247 |
| 95 | MP0003935_abnormal_craniofacial_develop | 0.46279013 |
| 96 | MP0001119_abnormal_female_reproductive | 0.45967647 |
| 97 | MP0000762_abnormal_tongue_morphology | 0.45525015 |
| 98 | MP0000428_abnormal_craniofacial_morphol | 0.45396268 |
| 99 | MP0002736_abnormal_nociception_after | 0.44883772 |
| 100 | MP0003861_abnormal_nervous_system | 0.43081136 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 5.74393921 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.36048227 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 5.36048227 |
| 4 | Congenital malformation of the right heart (HP:0011723) | 4.30615828 |
| 5 | Double outlet right ventricle (HP:0001719) | 4.30615828 |
| 6 | Abnormal ciliary motility (HP:0012262) | 4.26988474 |
| 7 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.17769000 |
| 8 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.17535433 |
| 9 | Attenuation of retinal blood vessels (HP:0007843) | 4.08580976 |
| 10 | Tubulointerstitial nephritis (HP:0001970) | 4.06684462 |
| 11 | Bell-shaped thorax (HP:0001591) | 4.02637277 |
| 12 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.74882723 |
| 13 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.74882723 |
| 14 | Resting tremor (HP:0002322) | 3.65192768 |
| 15 | Chronic hepatic failure (HP:0100626) | 3.61974049 |
| 16 | Infertility (HP:0000789) | 3.57305238 |
| 17 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.55163534 |
| 18 | Abnormality of the parathyroid morphology (HP:0011766) | 3.53561615 |
| 19 | Hypoalphalipoproteinemia (HP:0003233) | 3.50232734 |
| 20 | Abdominal situs inversus (HP:0003363) | 3.48919494 |
| 21 | Abnormality of abdominal situs (HP:0011620) | 3.48919494 |
| 22 | Asymmetric septal hypertrophy (HP:0001670) | 3.28517621 |
| 23 | Male infertility (HP:0003251) | 3.25882705 |
| 24 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.21821291 |
| 25 | Abnormality of the ischium (HP:0003174) | 3.11965559 |
| 26 | Abnormality of macular pigmentation (HP:0008002) | 2.95271870 |
| 27 | Impulsivity (HP:0100710) | 2.94987365 |
| 28 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.93867106 |
| 29 | Facial shape deformation (HP:0011334) | 2.84949287 |
| 30 | Potter facies (HP:0002009) | 2.84949287 |
| 31 | Hyperkalemia (HP:0002153) | 2.80831823 |
| 32 | Hypoplastic ischia (HP:0003175) | 2.79675360 |
| 33 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 2.76401030 |
| 34 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 2.69411497 |
| 35 | Rhinitis (HP:0012384) | 2.61938368 |
| 36 | Postural instability (HP:0002172) | 2.59813066 |
| 37 | Optic nerve hypoplasia (HP:0000609) | 2.57907950 |
| 38 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 2.54723531 |
| 39 | Cone-rod dystrophy (HP:0000548) | 2.53651640 |
| 40 | Intestinal atresia (HP:0011100) | 2.51566831 |
| 41 | Hypoplasia of the thymus (HP:0000778) | 2.50807204 |
| 42 | Esophageal atresia (HP:0002032) | 2.49972712 |
| 43 | Gonadal dysgenesis (HP:0000133) | 2.49641920 |
| 44 | Abnormal connection of the cardiac segments (HP:0011545) | 2.48648699 |
| 45 | Abnormal ventriculo-arterial connection (HP:0011563) | 2.48648699 |
| 46 | Transposition of the great arteries (HP:0001669) | 2.48648699 |
| 47 | Abnormality of the aortic arch (HP:0012303) | 2.48421291 |
| 48 | Nasal polyposis (HP:0100582) | 2.47501700 |
| 49 | Mixed hearing impairment (HP:0000410) | 2.45782518 |
| 50 | Azoospermia (HP:0000027) | 2.45517806 |
| 51 | Enlarged epiphyses (HP:0010580) | 2.44666126 |
| 52 | Abnormal spermatogenesis (HP:0008669) | 2.44635744 |
| 53 | Anal stenosis (HP:0002025) | 2.36925614 |
| 54 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.36461738 |
| 55 | Abnormality of the pubic bones (HP:0003172) | 2.27629061 |
| 56 | Oligodactyly (hands) (HP:0001180) | 2.27170876 |
| 57 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 2.23020122 |
| 58 | Anophthalmia (HP:0000528) | 2.17967222 |
| 59 | Septo-optic dysplasia (HP:0100842) | 2.15680616 |
| 60 | Abnormality of the costochondral junction (HP:0000919) | 2.14811816 |
| 61 | Short middle phalanx of the 5th finger (HP:0004220) | 2.13698135 |
| 62 | Absent radius (HP:0003974) | 2.13441758 |
| 63 | Gastrointestinal atresia (HP:0002589) | 2.09859222 |
| 64 | Abnormal umbilical cord blood vessels (HP:0011403) | 2.08944292 |
| 65 | Single umbilical artery (HP:0001195) | 2.08944292 |
| 66 | Abnormality of the fetal cardiovascular system (HP:0010948) | 2.08944292 |
| 67 | Hypophosphatemic rickets (HP:0004912) | 2.08501397 |
| 68 | Abnormal urine output (HP:0012590) | 2.07505808 |
| 69 | Nephronophthisis (HP:0000090) | 2.07351836 |
| 70 | Rectal fistula (HP:0100590) | 2.06420762 |
| 71 | Rectovaginal fistula (HP:0000143) | 2.06420762 |
| 72 | Progressive cerebellar ataxia (HP:0002073) | 2.06024615 |
| 73 | Epiphyseal dysplasia (HP:0002656) | 2.05192360 |
| 74 | Progressive sensorineural hearing impairment (HP:0000408) | 2.03966810 |
| 75 | Absent forearm bone (HP:0003953) | 1.98908317 |
| 76 | Aplasia involving forearm bones (HP:0009822) | 1.98908317 |
| 77 | Abnormality of the nasal mucosa (HP:0000433) | 1.97633559 |
| 78 | Truncal obesity (HP:0001956) | 1.96499707 |
| 79 | Abnormal drinking behavior (HP:0030082) | 1.95372696 |
| 80 | Polydipsia (HP:0001959) | 1.95372696 |
| 81 | Abnormality of the ileum (HP:0001549) | 1.94969227 |
| 82 | Portal hypertension (HP:0001409) | 1.94287752 |
| 83 | Intestinal fistula (HP:0100819) | 1.90817761 |
| 84 | Anterior segment dysgenesis (HP:0007700) | 1.90645538 |
| 85 | Generalized aminoaciduria (HP:0002909) | 1.90311075 |
| 86 | Insulin-resistant diabetes mellitus (HP:0000831) | 1.86256949 |
| 87 | Synostosis of carpal bones (HP:0005048) | 1.85476053 |
| 88 | Duodenal stenosis (HP:0100867) | 1.84777597 |
| 89 | Small intestinal stenosis (HP:0012848) | 1.84777597 |
| 90 | Meckel diverticulum (HP:0002245) | 1.84513339 |
| 91 | Abnormality of the nasal septum (HP:0000419) | 1.84439871 |
| 92 | Abnormality of the duodenum (HP:0002246) | 1.84428320 |
| 93 | Abnormality of dental color (HP:0011073) | 1.83200002 |
| 94 | Abnormal pancreas size (HP:0012094) | 1.82740480 |
| 95 | Stage 5 chronic kidney disease (HP:0003774) | 1.82399644 |
| 96 | Preauricular pit (HP:0004467) | 1.80802712 |
| 97 | Periauricular skin pits (HP:0100277) | 1.80802712 |
| 98 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 1.79990015 |
| 99 | Hypoplastic pelvis (HP:0008839) | 1.79909190 |
| 100 | Abnormality of the middle phalanx of the 5th finger (HP:0004219) | 1.78423597 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 8.70150868 |
| 2 | TESK1 | 3.71489418 |
| 3 | DDR2 | 3.51638694 |
| 4 | PLK2 | 3.23828649 |
| 5 | INSRR | 3.20953542 |
| 6 | ACVR1B | 3.07253782 |
| 7 | MAP4K2 | 3.02313444 |
| 8 | BRD4 | 2.90525516 |
| 9 | BMPR1B | 2.82265952 |
| 10 | PNCK | 2.77975134 |
| 11 | STK38L | 2.67113120 |
| 12 | PRKD3 | 2.43643957 |
| 13 | STK38 | 2.30392234 |
| 14 | PINK1 | 2.10842051 |
| 15 | ERBB4 | 2.04469224 |
| 16 | CAMK1G | 1.77209503 |
| 17 | WNK3 | 1.70154715 |
| 18 | MAP3K9 | 1.65846432 |
| 19 | TRIM28 | 1.55195983 |
| 20 | MAPK15 | 1.49456382 |
| 21 | BRAF | 1.38568876 |
| 22 | MAP3K4 | 1.34813158 |
| 23 | PBK | 1.23651933 |
| 24 | PIK3CG | 1.22777195 |
| 25 | MKNK2 | 1.21231326 |
| 26 | BRSK2 | 1.19226486 |
| 27 | NEK6 | 1.16110696 |
| 28 | PTK2B | 1.06985191 |
| 29 | WNK1 | 1.06760541 |
| 30 | CDK7 | 1.06414232 |
| 31 | TGFBR1 | 1.06025914 |
| 32 | MST1R | 0.98643715 |
| 33 | LATS1 | 0.89804432 |
| 34 | LATS2 | 0.89778196 |
| 35 | PDK1 | 0.89306420 |
| 36 | FRK | 0.86005518 |
| 37 | PDPK1 | 0.85137496 |
| 38 | MARK3 | 0.82665641 |
| 39 | PRKAA2 | 0.82105769 |
| 40 | NUAK1 | 0.78790967 |
| 41 | BRSK1 | 0.78191986 |
| 42 | AKT3 | 0.77748332 |
| 43 | ZAK | 0.74766685 |
| 44 | ARAF | 0.61915919 |
| 45 | PRKG1 | 0.61897212 |
| 46 | GRK1 | 0.61439425 |
| 47 | CDK12 | 0.61361494 |
| 48 | TNIK | 0.58149941 |
| 49 | ROCK1 | 0.57754245 |
| 50 | CDK3 | 0.56947235 |
| 51 | STK39 | 0.56933226 |
| 52 | MAP3K8 | 0.56586535 |
| 53 | PRKG2 | 0.56294965 |
| 54 | DYRK1B | 0.51515334 |
| 55 | MAP2K7 | 0.47054665 |
| 56 | PKN2 | 0.46814451 |
| 57 | NEK2 | 0.43041845 |
| 58 | TLK1 | 0.42896559 |
| 59 | STK10 | 0.41243422 |
| 60 | FLT3 | 0.39907799 |
| 61 | MKNK1 | 0.39243483 |
| 62 | CHEK1 | 0.38877248 |
| 63 | TIE1 | 0.38744851 |
| 64 | CDK2 | 0.38704743 |
| 65 | PLK1 | 0.37572379 |
| 66 | ERBB3 | 0.36258247 |
| 67 | WNK4 | 0.36180936 |
| 68 | MAPK1 | 0.35789102 |
| 69 | CAMK1 | 0.35560318 |
| 70 | CAMK1D | 0.34694746 |
| 71 | CDK1 | 0.33242330 |
| 72 | MET | 0.32998376 |
| 73 | GSK3B | 0.32349843 |
| 74 | STK3 | 0.32052593 |
| 75 | CDK9 | 0.31878273 |
| 76 | TYRO3 | 0.31743378 |
| 77 | CDK4 | 0.31737929 |
| 78 | MYLK | 0.31196269 |
| 79 | TTK | 0.30805113 |
| 80 | MST4 | 0.30218729 |
| 81 | SGK223 | 0.27874016 |
| 82 | SGK494 | 0.27874016 |
| 83 | OXSR1 | 0.26154511 |
| 84 | PRKCG | 0.25575841 |
| 85 | EIF2AK3 | 0.24567394 |
| 86 | RPS6KA1 | 0.24486305 |
| 87 | FGFR1 | 0.23796093 |
| 88 | PLK3 | 0.22047285 |
| 89 | PRKCQ | 0.22027885 |
| 90 | CDC7 | 0.21888837 |
| 91 | RPS6KA2 | 0.20691585 |
| 92 | AURKA | 0.20362164 |
| 93 | PRKCE | 0.19289977 |
| 94 | ATM | 0.18223910 |
| 95 | MAPK13 | 0.17119925 |
| 96 | PAK1 | 0.17044994 |
| 97 | VRK1 | 0.16784114 |
| 98 | SRPK1 | 0.16482244 |
| 99 | FER | 0.15608601 |
| 100 | MELK | 0.15500312 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 7.10127413 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 4.71685837 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 4.26409550 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 3.60226845 |
| 5 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 2.12825983 |
| 6 | RNA transport_Homo sapiens_hsa03013 | 2.04080522 |
| 7 | Basal transcription factors_Homo sapiens_hsa03022 | 1.96707502 |
| 8 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.94002329 |
| 9 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.85160820 |
| 10 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.80610876 |
| 11 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.77850903 |
| 12 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.77487108 |
| 13 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.76789647 |
| 14 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.68844909 |
| 15 | Phototransduction_Homo sapiens_hsa04744 | 1.68290421 |
| 16 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.62555171 |
| 17 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 1.53979805 |
| 18 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.52595874 |
| 19 | Taste transduction_Homo sapiens_hsa04742 | 1.41294056 |
| 20 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.19186897 |
| 21 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.17380805 |
| 22 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.12752857 |
| 23 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.12569663 |
| 24 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 1.03479518 |
| 25 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.02831980 |
| 26 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.02195815 |
| 27 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.01606029 |
| 28 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.01567829 |
| 29 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.99902168 |
| 30 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.99282677 |
| 31 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.98189476 |
| 32 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.93919103 |
| 33 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.84034947 |
| 34 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.81879404 |
| 35 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.81860764 |
| 36 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.81225861 |
| 37 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.80311155 |
| 38 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.79885584 |
| 39 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.79077510 |
| 40 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.78320005 |
| 41 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.78179466 |
| 42 | RNA degradation_Homo sapiens_hsa03018 | 0.76860558 |
| 43 | Retinol metabolism_Homo sapiens_hsa00830 | 0.76137695 |
| 44 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.73912883 |
| 45 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.73419002 |
| 46 | Gap junction_Homo sapiens_hsa04540 | 0.72625736 |
| 47 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.71941794 |
| 48 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.71741044 |
| 49 | ABC transporters_Homo sapiens_hsa02010 | 0.71415028 |
| 50 | Cell cycle_Homo sapiens_hsa04110 | 0.69048494 |
| 51 | Purine metabolism_Homo sapiens_hsa00230 | 0.68979510 |
| 52 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.67995227 |
| 53 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.67098423 |
| 54 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.64754948 |
| 55 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.63943381 |
| 56 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.62308387 |
| 57 | Circadian entrainment_Homo sapiens_hsa04713 | 0.61622135 |
| 58 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.61003479 |
| 59 | Circadian rhythm_Homo sapiens_hsa04710 | 0.59050403 |
| 60 | Salivary secretion_Homo sapiens_hsa04970 | 0.59035089 |
| 61 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.58177177 |
| 62 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.56424655 |
| 63 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.56201012 |
| 64 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.55219990 |
| 65 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.54719306 |
| 66 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.53706798 |
| 67 | Tight junction_Homo sapiens_hsa04530 | 0.53001534 |
| 68 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.52465173 |
| 69 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.50657815 |
| 70 | Endocytosis_Homo sapiens_hsa04144 | 0.48470828 |
| 71 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.47137410 |
| 72 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.46158117 |
| 73 | Homologous recombination_Homo sapiens_hsa03440 | 0.45783411 |
| 74 | Morphine addiction_Homo sapiens_hsa05032 | 0.45277619 |
| 75 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.44694268 |
| 76 | Allograft rejection_Homo sapiens_hsa05330 | 0.43574233 |
| 77 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.42843835 |
| 78 | Nicotine addiction_Homo sapiens_hsa05033 | 0.42084266 |
| 79 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.42043053 |
| 80 | Melanogenesis_Homo sapiens_hsa04916 | 0.39815490 |
| 81 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.39585570 |
| 82 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.38983602 |
| 83 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.38608764 |
| 84 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.37185771 |
| 85 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.35639883 |
| 86 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.34902245 |
| 87 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.33467101 |
| 88 | Adherens junction_Homo sapiens_hsa04520 | 0.33270544 |
| 89 | Renin secretion_Homo sapiens_hsa04924 | 0.32310772 |
| 90 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.32230521 |
| 91 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.32082575 |
| 92 | Base excision repair_Homo sapiens_hsa03410 | 0.31279069 |
| 93 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.30419242 |
| 94 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.29638882 |
| 95 | Metabolic pathways_Homo sapiens_hsa01100 | 0.29401624 |
| 96 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.29245268 |
| 97 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.29136294 |
| 98 | Peroxisome_Homo sapiens_hsa04146 | 0.27774464 |
| 99 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.27727089 |
| 100 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.27352061 |

