

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm motility (GO:0030317) | 9.59745652 |
| 2 | fusion of sperm to egg plasma membrane (GO:0007342) | 9.00680662 |
| 3 | plasma membrane fusion (GO:0045026) | 8.05891323 |
| 4 | single strand break repair (GO:0000012) | 7.61967703 |
| 5 | sperm capacitation (GO:0048240) | 7.44877886 |
| 6 | spermatid nucleus differentiation (GO:0007289) | 7.22491697 |
| 7 | multicellular organism reproduction (GO:0032504) | 6.67770335 |
| 8 | spermatid development (GO:0007286) | 6.64440101 |
| 9 | sperm-egg recognition (GO:0035036) | 6.58730241 |
| 10 | microtubule depolymerization (GO:0007019) | 6.42434860 |
| 11 | chromosome condensation (GO:0030261) | 6.35752865 |
| 12 | DNA packaging (GO:0006323) | 6.28671832 |
| 13 | axonemal dynein complex assembly (GO:0070286) | 6.15302051 |
| 14 | reproduction (GO:0000003) | 5.99247294 |
| 15 | calcium ion-dependent exocytosis (GO:0017156) | 5.93076257 |
| 16 | protein polyglutamylation (GO:0018095) | 5.90922938 |
| 17 | cellular ketone body metabolic process (GO:0046950) | 5.55955751 |
| 18 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.52931460 |
| 19 | binding of sperm to zona pellucida (GO:0007339) | 5.48557217 |
| 20 | rRNA methylation (GO:0031167) | 5.46294402 |
| 21 | cell-cell recognition (GO:0009988) | 5.37893694 |
| 22 | microtubule polymerization or depolymerization (GO:0031109) | 5.28715734 |
| 23 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.14841815 |
| 24 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.07223178 |
| 25 | spermatogenesis (GO:0007283) | 4.99553913 |
| 26 | regulation of cilium movement (GO:0003352) | 4.99245882 |
| 27 | male gamete generation (GO:0048232) | 4.97869245 |
| 28 | protein targeting to Golgi (GO:0000042) | 4.95885858 |
| 29 | ketone body metabolic process (GO:1902224) | 4.95697881 |
| 30 | establishment of protein localization to Golgi (GO:0072600) | 4.94848933 |
| 31 | negative regulation of inclusion body assembly (GO:0090084) | 4.76066318 |
| 32 | sexual reproduction (GO:0019953) | 4.71762415 |
| 33 | microtubule severing (GO:0051013) | 4.69117707 |
| 34 | rRNA modification (GO:0000154) | 4.59277422 |
| 35 | gamete generation (GO:0007276) | 4.58417637 |
| 36 | motile cilium assembly (GO:0044458) | 4.52087619 |
| 37 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 4.51547423 |
| 38 | positive regulation of Rab GTPase activity (GO:0032851) | 4.50739497 |
| 39 | regulation of Rab GTPase activity (GO:0032313) | 4.50739497 |
| 40 | RNA destabilization (GO:0050779) | 4.48621794 |
| 41 | single fertilization (GO:0007338) | 4.37025936 |
| 42 | epithelial cilium movement (GO:0003351) | 4.33909957 |
| 43 | centriole replication (GO:0007099) | 4.23103251 |
| 44 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.23029807 |
| 45 | coenzyme catabolic process (GO:0009109) | 4.18596274 |
| 46 | cell wall macromolecule catabolic process (GO:0016998) | 4.16925222 |
| 47 | seminiferous tubule development (GO:0072520) | 4.06516164 |
| 48 | cell wall macromolecule metabolic process (GO:0044036) | 3.97344893 |
| 49 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 3.96922639 |
| 50 | germ cell development (GO:0007281) | 3.86936903 |
| 51 | chromatin silencing (GO:0006342) | 3.82418759 |
| 52 | protein localization to Golgi apparatus (GO:0034067) | 3.81341021 |
| 53 | cilium movement (GO:0003341) | 3.72799336 |
| 54 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.63283453 |
| 55 | multicellular organismal reproductive process (GO:0048609) | 3.61275228 |
| 56 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.61102766 |
| 57 | fertilization (GO:0009566) | 3.54372168 |
| 58 | regulation of microtubule-based movement (GO:0060632) | 3.52029519 |
| 59 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.45360835 |
| 60 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.43843508 |
| 61 | centriole assembly (GO:0098534) | 3.42630623 |
| 62 | cell differentiation involved in metanephros development (GO:0072202) | 3.35746060 |
| 63 | organic cation transport (GO:0015695) | 3.25018169 |
| 64 | regulation of inclusion body assembly (GO:0090083) | 3.23871635 |
| 65 | tachykinin receptor signaling pathway (GO:0007217) | 3.20333236 |
| 66 | regulation of somitogenesis (GO:0014807) | 3.19909188 |
| 67 | NAD biosynthetic process (GO:0009435) | 3.02048720 |
| 68 | piRNA metabolic process (GO:0034587) | 3.01902468 |
| 69 | axoneme assembly (GO:0035082) | 3.01861047 |
| 70 | multicellular organismal movement (GO:0050879) | 2.96094278 |
| 71 | musculoskeletal movement (GO:0050881) | 2.96094278 |
| 72 | cilium organization (GO:0044782) | 2.92902893 |
| 73 | negative regulation of mesenchymal cell apoptotic process (GO:2001054) | 2.92383158 |
| 74 | regulation of centriole replication (GO:0046599) | 2.91860881 |
| 75 | cilium assembly (GO:0042384) | 2.91730017 |
| 76 | cell recognition (GO:0008037) | 2.88298756 |
| 77 | positive regulation of action potential (GO:0045760) | 2.87507955 |
| 78 | negative regulation of gene expression, epigenetic (GO:0045814) | 2.86373011 |
| 79 | C4-dicarboxylate transport (GO:0015740) | 2.85599662 |
| 80 | male meiosis I (GO:0007141) | 2.82494865 |
| 81 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 2.81367543 |
| 82 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 2.81367543 |
| 83 | spinal cord motor neuron differentiation (GO:0021522) | 2.80778690 |
| 84 | microtubule nucleation (GO:0007020) | 2.79560302 |
| 85 | DNA methylation involved in gamete generation (GO:0043046) | 2.79258625 |
| 86 | glycerol ether metabolic process (GO:0006662) | 2.79019794 |
| 87 | nucleus organization (GO:0006997) | 2.75357053 |
| 88 | histone mRNA catabolic process (GO:0071044) | 2.74479218 |
| 89 | somite rostral/caudal axis specification (GO:0032525) | 2.72848972 |
| 90 | nonmotile primary cilium assembly (GO:0035058) | 2.72726463 |
| 91 | response to acidic pH (GO:0010447) | 2.72655785 |
| 92 | cranial nerve morphogenesis (GO:0021602) | 2.65961542 |
| 93 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.62805907 |
| 94 | cellular response to pH (GO:0071467) | 2.59054065 |
| 95 | ether metabolic process (GO:0018904) | 2.58431871 |
| 96 | multicellular organismal development (GO:0007275) | 2.57479069 |
| 97 | cerebral cortex neuron differentiation (GO:0021895) | 2.53216299 |
| 98 | estrogen biosynthetic process (GO:0006703) | 2.50702299 |
| 99 | alanine transport (GO:0032328) | 2.49652391 |
| 100 | acrosome reaction (GO:0007340) | 10.7511409 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | ZNF274_21170338_ChIP-Seq_K562_Hela | 3.07012873 |
| 2 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.68854981 |
| 3 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 2.60551825 |
| 4 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.57528921 |
| 5 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.43325375 |
| 6 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.26952133 |
| 7 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.26952133 |
| 8 | VDR_22108803_ChIP-Seq_LS180_Human | 2.22921363 |
| 9 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.21659437 |
| 10 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.21659437 |
| 11 | TAF15_26573619_Chip-Seq_HEK293_Human | 2.18339401 |
| 12 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.10145667 |
| 13 | FUS_26573619_Chip-Seq_HEK293_Human | 2.09794357 |
| 14 | ER_23166858_ChIP-Seq_MCF-7_Human | 2.08046435 |
| 15 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.92467931 |
| 16 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.91121481 |
| 17 | P300_19829295_ChIP-Seq_ESCs_Human | 1.87911696 |
| 18 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.77508994 |
| 19 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.76136326 |
| 20 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.76064641 |
| 21 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.75818159 |
| 22 | * EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.66896611 |
| 23 | AR_25329375_ChIP-Seq_VCAP_Human | 1.65669757 |
| 24 | * ERA_21632823_ChIP-Seq_H3396_Human | 1.65410908 |
| 25 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.63388902 |
| 26 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.60110132 |
| 27 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.58278920 |
| 28 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.57428161 |
| 29 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.57019106 |
| 30 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.56265929 |
| 31 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.55562595 |
| 32 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.52912232 |
| 33 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.50212766 |
| 34 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.49502896 |
| 35 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.48727646 |
| 36 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 1.48184799 |
| 37 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.47837300 |
| 38 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.46596154 |
| 39 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.45402570 |
| 40 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.45222255 |
| 41 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.44557161 |
| 42 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.42388553 |
| 43 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.42144126 |
| 44 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.41326175 |
| 45 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.40771414 |
| 46 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.40523969 |
| 47 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.39228394 |
| 48 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.37355045 |
| 49 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.34263280 |
| 50 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.34136012 |
| 51 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.33823557 |
| 52 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.33823557 |
| 53 | STAT3_23295773_ChIP-Seq_U87_Human | 1.31600657 |
| 54 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.30137212 |
| 55 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.28303762 |
| 56 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.28111699 |
| 57 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.27720989 |
| 58 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.25101393 |
| 59 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.24361509 |
| 60 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.23355305 |
| 61 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.22503381 |
| 62 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.22392562 |
| 63 | NCOR_22424771_ChIP-Seq_293T_Human | 1.18887427 |
| 64 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.18596387 |
| 65 | * E2F1_20622854_ChIP-Seq_HELA_Human | 1.17885574 |
| 66 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.16794657 |
| 67 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.16794657 |
| 68 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.15795349 |
| 69 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.15682238 |
| 70 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.15475862 |
| 71 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.14386955 |
| 72 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.13510760 |
| 73 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.13477497 |
| 74 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.13247574 |
| 75 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.12009379 |
| 76 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.11081078 |
| 77 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.10947285 |
| 78 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.10738120 |
| 79 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.09619895 |
| 80 | TCF4_23295773_ChIP-Seq_U87_Human | 1.09577403 |
| 81 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.08897674 |
| 82 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.08252501 |
| 83 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.07911710 |
| 84 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.07225767 |
| 85 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.07122590 |
| 86 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.06024705 |
| 87 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.05935523 |
| 88 | NFYB_21822215_ChIP-Seq_K562_Human | 1.05493005 |
| 89 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.04654010 |
| 90 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.03895294 |
| 91 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.02591756 |
| 92 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.01652737 |
| 93 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.01056202 |
| 94 | TBL1_22424771_ChIP-Seq_293T_Human | 1.00622130 |
| 95 | CEBPB_22108803_ChIP-Seq_LS180_Human | 0.99735248 |
| 96 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 0.98885200 |
| 97 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 0.98752439 |
| 98 | P300_27268052_Chip-Seq_Bcells_Human | 0.98752241 |
| 99 | REST_18959480_ChIP-ChIP_MESCs_Mouse | 0.98593830 |
| 100 | PHF8_20622854_ChIP-Seq_HELA_Human | 0.98232529 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 8.88282107 |
| 2 | MP0003698_abnormal_male_reproductive | 3.43391074 |
| 3 | MP0005377_hearing/vestibular/ear_phenot | 3.23025612 |
| 4 | MP0003878_abnormal_ear_physiology | 3.23025612 |
| 5 | MP0005670_abnormal_white_adipose | 3.20699718 |
| 6 | MP0001929_abnormal_gametogenesis | 2.93163528 |
| 7 | MP0003646_muscle_fatigue | 2.90122040 |
| 8 | MP0001968_abnormal_touch/_nociception | 2.48476184 |
| 9 | MP0003011_delayed_dark_adaptation | 2.47585458 |
| 10 | MP0005379_endocrine/exocrine_gland_phen | 2.32244385 |
| 11 | MP0002822_catalepsy | 2.15001547 |
| 12 | MP0002735_abnormal_chemical_nociception | 2.14725614 |
| 13 | MP0001348_abnormal_lacrimal_gland | 2.12018291 |
| 14 | MP0002234_abnormal_pharynx_morphology | 2.04324183 |
| 15 | MP0003718_maternal_effect | 1.91723228 |
| 16 | MP0001486_abnormal_startle_reflex | 1.83046630 |
| 17 | MP0002161_abnormal_fertility/fecundity | 1.78471009 |
| 18 | MP0005551_abnormal_eye_electrophysiolog | 1.77263726 |
| 19 | MP0006292_abnormal_olfactory_placode | 1.68621209 |
| 20 | MP0005253_abnormal_eye_physiology | 1.65196869 |
| 21 | MP0002132_abnormal_respiratory_system | 1.63089112 |
| 22 | MP0001986_abnormal_taste_sensitivity | 1.59668875 |
| 23 | MP0002102_abnormal_ear_morphology | 1.57629677 |
| 24 | MP0005423_abnormal_somatic_nervous | 1.53222121 |
| 25 | MP0000678_abnormal_parathyroid_gland | 1.47719467 |
| 26 | MP0001984_abnormal_olfaction | 1.42732738 |
| 27 | MP0008877_abnormal_DNA_methylation | 1.38198942 |
| 28 | MP0002210_abnormal_sex_determination | 1.38162600 |
| 29 | MP0002733_abnormal_thermal_nociception | 1.35995436 |
| 30 | MP0009745_abnormal_behavioral_response | 1.35302919 |
| 31 | MP0002272_abnormal_nervous_system | 1.32153976 |
| 32 | MP0008995_early_reproductive_senescence | 1.29421153 |
| 33 | MP0000372_irregular_coat_pigmentation | 1.28017642 |
| 34 | MP0008789_abnormal_olfactory_epithelium | 1.26723743 |
| 35 | MP0002138_abnormal_hepatobiliary_system | 1.23358891 |
| 36 | MP0005084_abnormal_gallbladder_morpholo | 1.23232049 |
| 37 | MP0001485_abnormal_pinna_reflex | 1.18476856 |
| 38 | MP0000653_abnormal_sex_gland | 1.17251221 |
| 39 | MP0003880_abnormal_central_pattern | 1.17141619 |
| 40 | MP0002557_abnormal_social/conspecific_i | 1.16349796 |
| 41 | MP0001970_abnormal_pain_threshold | 1.15921324 |
| 42 | MP0004859_abnormal_synaptic_plasticity | 1.15240850 |
| 43 | MP0001145_abnormal_male_reproductive | 1.13178718 |
| 44 | MP0006276_abnormal_autonomic_nervous | 1.10748698 |
| 45 | MP0002734_abnormal_mechanical_nocicepti | 1.10491257 |
| 46 | MP0002229_neurodegeneration | 1.10414642 |
| 47 | MP0002736_abnormal_nociception_after | 1.09030150 |
| 48 | MP0004742_abnormal_vestibular_system | 1.07076249 |
| 49 | MP0002067_abnormal_sensory_capabilities | 1.06753377 |
| 50 | MP0005645_abnormal_hypothalamus_physiol | 1.06401792 |
| 51 | MP0009046_muscle_twitch | 1.06166774 |
| 52 | MP0003195_calcinosis | 1.05913202 |
| 53 | MP0001501_abnormal_sleep_pattern | 1.05424585 |
| 54 | MP0002127_abnormal_cardiovascular_syste | 1.05161921 |
| 55 | MP0005394_taste/olfaction_phenotype | 1.04651255 |
| 56 | MP0005499_abnormal_olfactory_system | 1.04651255 |
| 57 | MP0000049_abnormal_middle_ear | 1.03824371 |
| 58 | MP0002282_abnormal_trachea_morphology | 1.03785045 |
| 59 | MP0001963_abnormal_hearing_physiology | 1.01653582 |
| 60 | MP0002837_dystrophic_cardiac_calcinosis | 1.01397413 |
| 61 | MP0000516_abnormal_urinary_system | 1.00160852 |
| 62 | MP0005367_renal/urinary_system_phenotyp | 1.00160852 |
| 63 | MP0003635_abnormal_synaptic_transmissio | 0.97306048 |
| 64 | MP0002572_abnormal_emotion/affect_behav | 0.97299152 |
| 65 | MP0000026_abnormal_inner_ear | 0.96486975 |
| 66 | MP0000955_abnormal_spinal_cord | 0.96300802 |
| 67 | MP0001765_abnormal_ion_homeostasis | 0.93658839 |
| 68 | MP0002249_abnormal_larynx_morphology | 0.89612164 |
| 69 | MP0004484_altered_response_of | 0.89091927 |
| 70 | MP0002653_abnormal_ependyma_morphology | 0.88043414 |
| 71 | MP0001905_abnormal_dopamine_level | 0.87685543 |
| 72 | MP0001764_abnormal_homeostasis | 0.87255567 |
| 73 | MP0008775_abnormal_heart_ventricle | 0.86581098 |
| 74 | MP0006072_abnormal_retinal_apoptosis | 0.83875157 |
| 75 | MP0008872_abnormal_physiological_respon | 0.82988622 |
| 76 | MP0009697_abnormal_copulation | 0.80686919 |
| 77 | MP0005395_other_phenotype | 0.79045009 |
| 78 | MP0004085_abnormal_heartbeat | 0.78779015 |
| 79 | MP0005646_abnormal_pituitary_gland | 0.77914646 |
| 80 | MP0002638_abnormal_pupillary_reflex | 0.76160412 |
| 81 | MP0005167_abnormal_blood-brain_barrier | 0.75413513 |
| 82 | MP0003122_maternal_imprinting | 0.74543685 |
| 83 | MP0004043_abnormal_pH_regulation | 0.73919242 |
| 84 | MP0001666_abnormal_nutrient_absorption | 0.73368820 |
| 85 | MP0005636_abnormal_mineral_homeostasis | 0.72290374 |
| 86 | MP0005391_vision/eye_phenotype | 0.72077225 |
| 87 | MP0003121_genomic_imprinting | 0.72036126 |
| 88 | MP0002752_abnormal_somatic_nervous | 0.70541665 |
| 89 | MP0003136_yellow_coat_color | 0.70517945 |
| 90 | MP0004142_abnormal_muscle_tone | 0.69844259 |
| 91 | MP0009053_abnormal_anal_canal | 0.69842179 |
| 92 | MP0002063_abnormal_learning/memory/cond | 0.68721075 |
| 93 | MP0002928_abnormal_bile_duct | 0.68708852 |
| 94 | MP0002163_abnormal_gland_morphology | 0.68294828 |
| 95 | MP0000681_abnormal_thyroid_gland | 0.67871785 |
| 96 | MP0005310_abnormal_salivary_gland | 0.67473103 |
| 97 | MP0002064_seizures | 0.65893931 |
| 98 | MP0002882_abnormal_neuron_morphology | 0.65810855 |
| 99 | MP0002876_abnormal_thyroid_physiology | 0.65199340 |
| 100 | MP0000613_abnormal_salivary_gland | 0.64167037 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 5.98296666 |
| 2 | Attenuation of retinal blood vessels (HP:0007843) | 5.24934380 |
| 3 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.79684571 |
| 4 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 4.56536548 |
| 5 | Absent/shortened dynein arms (HP:0200106) | 4.56536548 |
| 6 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.30517985 |
| 7 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.30517985 |
| 8 | Chronic hepatic failure (HP:0100626) | 4.20278984 |
| 9 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.06789172 |
| 10 | Abnormality of macular pigmentation (HP:0008002) | 3.95790099 |
| 11 | Abnormal ciliary motility (HP:0012262) | 3.85151078 |
| 12 | Tubulointerstitial nephritis (HP:0001970) | 3.81674675 |
| 13 | Nephronophthisis (HP:0000090) | 3.64053964 |
| 14 | Abnormal respiratory motile cilium physiology (HP:0012261) | 3.51723419 |
| 15 | Abnormality of the renal medulla (HP:0100957) | 3.07233739 |
| 16 | Azoospermia (HP:0000027) | 3.03622606 |
| 17 | Facial shape deformation (HP:0011334) | 2.91754928 |
| 18 | Potter facies (HP:0002009) | 2.91754928 |
| 19 | Pancreatic cysts (HP:0001737) | 2.88370739 |
| 20 | Hypoplasia of the thymus (HP:0000778) | 2.87097005 |
| 21 | Congenital stationary night blindness (HP:0007642) | 2.85283484 |
| 22 | Progressive cerebellar ataxia (HP:0002073) | 2.84715010 |
| 23 | Retinal dysplasia (HP:0007973) | 2.78286350 |
| 24 | Pancreatic fibrosis (HP:0100732) | 2.78102668 |
| 25 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.75790997 |
| 26 | Abnormal spermatogenesis (HP:0008669) | 2.75552627 |
| 27 | Hyperkalemia (HP:0002153) | 2.72180773 |
| 28 | Decreased central vision (HP:0007663) | 2.66091732 |
| 29 | Medial flaring of the eyebrow (HP:0010747) | 2.65249464 |
| 30 | Hypoplastic ischia (HP:0003175) | 2.60453745 |
| 31 | Pendular nystagmus (HP:0012043) | 2.59476091 |
| 32 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.54524458 |
| 33 | Abnormality of midbrain morphology (HP:0002418) | 2.53523609 |
| 34 | Molar tooth sign on MRI (HP:0002419) | 2.53523609 |
| 35 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 2.50424563 |
| 36 | Unilateral renal agenesis (HP:0000122) | 2.50137647 |
| 37 | Double outlet right ventricle (HP:0001719) | 2.49956729 |
| 38 | Congenital malformation of the right heart (HP:0011723) | 2.49956729 |
| 39 | Infertility (HP:0000789) | 2.49566774 |
| 40 | Gait imbalance (HP:0002141) | 2.47841499 |
| 41 | Type II lissencephaly (HP:0007260) | 2.46448913 |
| 42 | Renal dysplasia (HP:0000110) | 2.46242050 |
| 43 | Abnormal urine output (HP:0012590) | 2.45441938 |
| 44 | Bell-shaped thorax (HP:0001591) | 2.42347170 |
| 45 | Asymmetric septal hypertrophy (HP:0001670) | 2.41411763 |
| 46 | Congenital primary aphakia (HP:0007707) | 2.40044177 |
| 47 | Nephrogenic diabetes insipidus (HP:0009806) | 2.38710630 |
| 48 | Resting tremor (HP:0002322) | 2.36531675 |
| 49 | Polydipsia (HP:0001959) | 2.36370674 |
| 50 | Abnormal drinking behavior (HP:0030082) | 2.36370674 |
| 51 | True hermaphroditism (HP:0010459) | 2.34360073 |
| 52 | Abnormality of the parathyroid morphology (HP:0011766) | 2.32442476 |
| 53 | Impulsivity (HP:0100710) | 2.30834779 |
| 54 | Abnormality of the renal cortex (HP:0011035) | 2.28236892 |
| 55 | Polyuria (HP:0000103) | 2.26566689 |
| 56 | Genital tract atresia (HP:0001827) | 2.25716095 |
| 57 | Stage 5 chronic kidney disease (HP:0003774) | 2.25675805 |
| 58 | Cerebellar dysplasia (HP:0007033) | 2.25256973 |
| 59 | Postaxial foot polydactyly (HP:0001830) | 2.21885849 |
| 60 | Congenital hepatic fibrosis (HP:0002612) | 2.21430536 |
| 61 | Abnormality of the aortic arch (HP:0012303) | 2.20604411 |
| 62 | Abnormality of the ischium (HP:0003174) | 2.20295249 |
| 63 | Vaginal atresia (HP:0000148) | 2.16508653 |
| 64 | Sclerocornea (HP:0000647) | 2.15462507 |
| 65 | Occipital encephalocele (HP:0002085) | 2.15271727 |
| 66 | Enlarged epiphyses (HP:0010580) | 2.15246984 |
| 67 | Generalized aminoaciduria (HP:0002909) | 2.14331552 |
| 68 | Tetany (HP:0001281) | 2.12176809 |
| 69 | Cone-rod dystrophy (HP:0000548) | 2.10099105 |
| 70 | Congenital sensorineural hearing impairment (HP:0008527) | 2.09354335 |
| 71 | Amblyopia (HP:0000646) | 2.05282921 |
| 72 | Rhinitis (HP:0012384) | 2.04568312 |
| 73 | Keratoconus (HP:0000563) | 2.04368693 |
| 74 | Increased corneal curvature (HP:0100692) | 2.04368693 |
| 75 | Amelogenesis imperfecta (HP:0000705) | 2.04033922 |
| 76 | Lissencephaly (HP:0001339) | 1.99888464 |
| 77 | Abnormality of renal excretion (HP:0011036) | 1.99013032 |
| 78 | Cystic liver disease (HP:0006706) | 1.98240000 |
| 79 | Tubulointerstitial abnormality (HP:0001969) | 1.98099920 |
| 80 | Absent speech (HP:0001344) | 1.97400705 |
| 81 | Thyroiditis (HP:0100646) | 1.96970963 |
| 82 | Chronic sinusitis (HP:0011109) | 1.96755359 |
| 83 | Anencephaly (HP:0002323) | 1.93265485 |
| 84 | Poor coordination (HP:0002370) | 1.90753273 |
| 85 | Optic nerve hypoplasia (HP:0000609) | 1.90116587 |
| 86 | Abolished electroretinogram (ERG) (HP:0000550) | 1.89919556 |
| 87 | Abnormality of potassium homeostasis (HP:0011042) | 1.89556914 |
| 88 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 1.88067786 |
| 89 | Median cleft lip (HP:0000161) | 1.85471193 |
| 90 | Abnormality of the pubic bones (HP:0003172) | 1.83464537 |
| 91 | Tubular atrophy (HP:0000092) | 1.81072323 |
| 92 | Intestinal atresia (HP:0011100) | 1.80460332 |
| 93 | Hyperventilation (HP:0002883) | 1.80260694 |
| 94 | Male infertility (HP:0003251) | 1.79848854 |
| 95 | Nasal polyposis (HP:0100582) | 1.79244658 |
| 96 | Bronchiectasis (HP:0002110) | 1.77792736 |
| 97 | 3-Methylglutaconic aciduria (HP:0003535) | 1.77520206 |
| 98 | Abnormality of dental color (HP:0011073) | 1.77398392 |
| 99 | Photophobia (HP:0000613) | 1.76266922 |
| 100 | Postural instability (HP:0002172) | 1.75495527 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 5.26876601 |
| 2 | MAP4K2 | 5.12091458 |
| 3 | INSRR | 4.29867722 |
| 4 | TESK1 | 3.88965823 |
| 5 | FRK | 3.05668519 |
| 6 | DDR2 | 2.96634527 |
| 7 | PLK2 | 2.92804450 |
| 8 | BMPR1B | 2.52453374 |
| 9 | TESK2 | 2.23621287 |
| 10 | STK38 | 2.17696805 |
| 11 | MARK1 | 2.04657680 |
| 12 | GRK1 | 1.98199365 |
| 13 | TAOK3 | 1.93219064 |
| 14 | PRKD3 | 1.90249246 |
| 15 | CASK | 1.81277839 |
| 16 | ADRBK2 | 1.74670597 |
| 17 | STK38L | 1.72460408 |
| 18 | FER | 1.65494475 |
| 19 | MAPK15 | 1.65351580 |
| 20 | MAPK13 | 1.58101060 |
| 21 | WNK3 | 1.53389085 |
| 22 | PNCK | 1.38623221 |
| 23 | PIK3CG | 1.35851519 |
| 24 | MAP3K4 | 1.33854918 |
| 25 | FES | 1.31719097 |
| 26 | CAMK1G | 1.25132821 |
| 27 | BRD4 | 1.24534078 |
| 28 | TRIM28 | 1.23409207 |
| 29 | NUAK1 | 1.18510213 |
| 30 | MAP2K7 | 1.14097142 |
| 31 | WNK4 | 1.10287053 |
| 32 | AKT3 | 1.08394291 |
| 33 | ZAK | 1.02647232 |
| 34 | PTK2B | 1.00181869 |
| 35 | PRKCE | 0.99145676 |
| 36 | DYRK2 | 0.97037793 |
| 37 | PINK1 | 0.96913572 |
| 38 | UHMK1 | 0.95837532 |
| 39 | WNK1 | 0.91479137 |
| 40 | PDK1 | 0.89227931 |
| 41 | CAMK1 | 0.87003445 |
| 42 | CDK7 | 0.85588915 |
| 43 | STK16 | 0.83451979 |
| 44 | PRKCG | 0.83264370 |
| 45 | STK39 | 0.79935932 |
| 46 | ACVR1B | 0.79184815 |
| 47 | NTRK3 | 0.77369765 |
| 48 | TXK | 0.73768380 |
| 49 | DYRK1B | 0.67893553 |
| 50 | GRK5 | 0.66741256 |
| 51 | PDPK1 | 0.66412490 |
| 52 | MUSK | 0.66399082 |
| 53 | FLT3 | 0.65377749 |
| 54 | CAMK4 | 0.64425605 |
| 55 | DYRK3 | 0.64092689 |
| 56 | KIT | 0.62008628 |
| 57 | SIK2 | 0.61084128 |
| 58 | PRKAA2 | 0.60401803 |
| 59 | PRKG1 | 0.57739440 |
| 60 | NEK6 | 0.56583830 |
| 61 | CCNB1 | 0.54583363 |
| 62 | PRKCZ | 0.53626828 |
| 63 | MAPKAPK3 | 0.50978461 |
| 64 | MAP3K9 | 0.50412391 |
| 65 | OXSR1 | 0.49507899 |
| 66 | BCKDK | 0.49172411 |
| 67 | MAP2K2 | 0.49012851 |
| 68 | CAMK1D | 0.44909320 |
| 69 | MST1R | 0.44587761 |
| 70 | SGK494 | 0.41508401 |
| 71 | SGK223 | 0.41508401 |
| 72 | CSNK1G2 | 0.39834707 |
| 73 | VRK1 | 0.39232929 |
| 74 | PRKACA | 0.38855455 |
| 75 | RPS6KA4 | 0.35766548 |
| 76 | CAMK2A | 0.35479519 |
| 77 | CSNK1G3 | 0.33994478 |
| 78 | GRK6 | 0.32509583 |
| 79 | TAF1 | 0.31657266 |
| 80 | PRKCB | 0.30944084 |
| 81 | RPS6KA1 | 0.30134706 |
| 82 | TGFBR1 | 0.29446692 |
| 83 | SGK2 | 0.29020708 |
| 84 | TNK2 | 0.28792321 |
| 85 | PKN1 | 0.28547553 |
| 86 | PRKAA1 | 0.28530825 |
| 87 | PRKCQ | 0.27971944 |
| 88 | ROCK1 | 0.27725197 |
| 89 | MAPKAPK5 | 0.27308246 |
| 90 | CSNK1A1 | 0.26647858 |
| 91 | MINK1 | 0.26309578 |
| 92 | PAK3 | 0.25956592 |
| 93 | GSK3B | 0.24914645 |
| 94 | CSNK1A1L | 0.24824492 |
| 95 | PRKACB | 0.24673599 |
| 96 | DYRK1A | 0.24652051 |
| 97 | SGK1 | 0.23462274 |
| 98 | TIE1 | 0.23339326 |
| 99 | MET | 0.22787800 |
| 100 | ERBB3 | 0.22376280 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 6.42764499 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 3.56986176 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.17030331 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 3.14215514 |
| 5 | Phototransduction_Homo sapiens_hsa04744 | 2.61750650 |
| 6 | Taste transduction_Homo sapiens_hsa04742 | 2.22719065 |
| 7 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.99016593 |
| 8 | Nicotine addiction_Homo sapiens_hsa05033 | 1.94694628 |
| 9 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.87613037 |
| 10 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.85409843 |
| 11 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.76072491 |
| 12 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.69652252 |
| 13 | Morphine addiction_Homo sapiens_hsa05032 | 1.61881039 |
| 14 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.59214173 |
| 15 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.43270265 |
| 16 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.42553701 |
| 17 | Allograft rejection_Homo sapiens_hsa05330 | 1.40577634 |
| 18 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.39083565 |
| 19 | GABAergic synapse_Homo sapiens_hsa04727 | 1.34764212 |
| 20 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.31867313 |
| 21 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.31524034 |
| 22 | Retinol metabolism_Homo sapiens_hsa00830 | 1.31495263 |
| 23 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.31417967 |
| 24 | ABC transporters_Homo sapiens_hsa02010 | 1.30956543 |
| 25 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.29157566 |
| 26 | Circadian entrainment_Homo sapiens_hsa04713 | 1.27311523 |
| 27 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.26478818 |
| 28 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.26014636 |
| 29 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.25032815 |
| 30 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.23186692 |
| 31 | Peroxisome_Homo sapiens_hsa04146 | 1.21451774 |
| 32 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.18696017 |
| 33 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.17313537 |
| 34 | Salivary secretion_Homo sapiens_hsa04970 | 1.16663092 |
| 35 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.10987555 |
| 36 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.09608828 |
| 37 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.09293360 |
| 38 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.04502464 |
| 39 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.00953832 |
| 40 | Basal transcription factors_Homo sapiens_hsa03022 | 0.97100269 |
| 41 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.95366892 |
| 42 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.95300936 |
| 43 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.94382454 |
| 44 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.93136967 |
| 45 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.91543135 |
| 46 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.91058614 |
| 47 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.90613906 |
| 48 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.87847871 |
| 49 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.87025594 |
| 50 | RNA polymerase_Homo sapiens_hsa03020 | 0.86950196 |
| 51 | Insulin secretion_Homo sapiens_hsa04911 | 0.86015183 |
| 52 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.78273117 |
| 53 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.75625175 |
| 54 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.74880458 |
| 55 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.72161670 |
| 56 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.71690608 |
| 57 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.71550219 |
| 58 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.70131972 |
| 59 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.70076426 |
| 60 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.70004560 |
| 61 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.69147205 |
| 62 | RNA transport_Homo sapiens_hsa03013 | 0.66396147 |
| 63 | Purine metabolism_Homo sapiens_hsa00230 | 0.64125230 |
| 64 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.63549001 |
| 65 | Endocytosis_Homo sapiens_hsa04144 | 0.61600947 |
| 66 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.61537440 |
| 67 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.61389942 |
| 68 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.60984417 |
| 69 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.58856931 |
| 70 | Renin secretion_Homo sapiens_hsa04924 | 0.58613007 |
| 71 | Huntingtons disease_Homo sapiens_hsa05016 | 0.55347549 |
| 72 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.55232370 |
| 73 | Viral myocarditis_Homo sapiens_hsa05416 | 0.54168609 |
| 74 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.52834127 |
| 75 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.52672567 |
| 76 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.49735403 |
| 77 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.49397119 |
| 78 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.48268551 |
| 79 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.45723858 |
| 80 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.45424188 |
| 81 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.45357814 |
| 82 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.45235465 |
| 83 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.45156038 |
| 84 | Metabolic pathways_Homo sapiens_hsa01100 | 0.44978305 |
| 85 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.44186529 |
| 86 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.44147829 |
| 87 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.43865541 |
| 88 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.42949024 |
| 89 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.41057966 |
| 90 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.39829402 |
| 91 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.38522407 |
| 92 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.38159986 |
| 93 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.37636709 |
| 94 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.36637443 |
| 95 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.36402732 |
| 96 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.35540384 |
| 97 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.35352739 |
| 98 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.33799739 |
| 99 | Circadian rhythm_Homo sapiens_hsa04710 | 0.33336715 |
| 100 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.33320619 |

