

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm motility (GO:0030317) | 9.25017692 |
| 2 | acrosome reaction (GO:0007340) | 8.60463571 |
| 3 | response to pheromone (GO:0019236) | 7.65729491 |
| 4 | fusion of sperm to egg plasma membrane (GO:0007342) | 7.51732331 |
| 5 | single strand break repair (GO:0000012) | 7.21595691 |
| 6 | protein targeting to Golgi (GO:0000042) | 7.11831249 |
| 7 | establishment of protein localization to Golgi (GO:0072600) | 6.86367918 |
| 8 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 6.62071831 |
| 9 | protein polyglutamylation (GO:0018095) | 6.43862538 |
| 10 | sperm capacitation (GO:0048240) | 6.39469408 |
| 11 | multicellular organism reproduction (GO:0032504) | 6.31751815 |
| 12 | spermatid development (GO:0007286) | 6.28752332 |
| 13 | regulation of cilium movement (GO:0003352) | 5.92768150 |
| 14 | axonemal dynein complex assembly (GO:0070286) | 5.75545135 |
| 15 | plasma membrane fusion (GO:0045026) | 5.64346654 |
| 16 | rRNA methylation (GO:0031167) | 5.56288706 |
| 17 | protein localization to Golgi apparatus (GO:0034067) | 5.52472478 |
| 18 | sperm-egg recognition (GO:0035036) | 5.49696858 |
| 19 | reproduction (GO:0000003) | 5.49623428 |
| 20 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.34933729 |
| 21 | cellular ketone body metabolic process (GO:0046950) | 5.27077494 |
| 22 | microtubule severing (GO:0051013) | 5.20366166 |
| 23 | chromosome condensation (GO:0030261) | 5.16829722 |
| 24 | DNA packaging (GO:0006323) | 5.04315099 |
| 25 | spermatid nucleus differentiation (GO:0007289) | 5.02735569 |
| 26 | phosphatidylethanolamine metabolic process (GO:0046337) | 4.98722393 |
| 27 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.92774402 |
| 28 | epithelial cilium movement (GO:0003351) | 4.91085922 |
| 29 | calcium ion-dependent exocytosis (GO:0017156) | 4.82930362 |
| 30 | cell-cell recognition (GO:0009988) | 4.71675528 |
| 31 | ketone body metabolic process (GO:1902224) | 4.70928927 |
| 32 | rRNA modification (GO:0000154) | 4.62419855 |
| 33 | spermatogenesis (GO:0007283) | 4.53558267 |
| 34 | RNA destabilization (GO:0050779) | 4.52886845 |
| 35 | male gamete generation (GO:0048232) | 4.51658564 |
| 36 | motile cilium assembly (GO:0044458) | 4.43482330 |
| 37 | binding of sperm to zona pellucida (GO:0007339) | 4.38110243 |
| 38 | centriole replication (GO:0007099) | 4.31956489 |
| 39 | single fertilization (GO:0007338) | 4.25708331 |
| 40 | cilium movement (GO:0003341) | 4.21558379 |
| 41 | microtubule depolymerization (GO:0007019) | 4.19859004 |
| 42 | organic cation transport (GO:0015695) | 4.13014348 |
| 43 | gamete generation (GO:0007276) | 4.12917292 |
| 44 | axoneme assembly (GO:0035082) | 4.10192026 |
| 45 | sexual reproduction (GO:0019953) | 4.06925227 |
| 46 | regulation of microtubule-based movement (GO:0060632) | 4.03101409 |
| 47 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.95228295 |
| 48 | microtubule polymerization or depolymerization (GO:0031109) | 3.93525843 |
| 49 | piRNA metabolic process (GO:0034587) | 3.90094517 |
| 50 | regulation of Rab GTPase activity (GO:0032313) | 3.86916990 |
| 51 | positive regulation of Rab GTPase activity (GO:0032851) | 3.86916990 |
| 52 | centriole assembly (GO:0098534) | 3.84777401 |
| 53 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 3.69078116 |
| 54 | behavioral response to nicotine (GO:0035095) | 3.68971315 |
| 55 | cell wall macromolecule metabolic process (GO:0044036) | 3.64815382 |
| 56 | germ cell development (GO:0007281) | 3.54903934 |
| 57 | negative regulation of inclusion body assembly (GO:0090084) | 3.47297668 |
| 58 | seminiferous tubule development (GO:0072520) | 3.46327870 |
| 59 | cell wall macromolecule catabolic process (GO:0016998) | 3.44084311 |
| 60 | fertilization (GO:0009566) | 3.40996360 |
| 61 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.37568829 |
| 62 | coenzyme catabolic process (GO:0009109) | 3.30192708 |
| 63 | multicellular organismal reproductive process (GO:0048609) | 3.26782337 |
| 64 | NAD biosynthetic process (GO:0009435) | 3.26721799 |
| 65 | male meiosis I (GO:0007141) | 3.20014026 |
| 66 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.18318345 |
| 67 | left/right axis specification (GO:0070986) | 3.16427990 |
| 68 | nephron epithelium morphogenesis (GO:0072088) | 3.13698877 |
| 69 | nephron tubule morphogenesis (GO:0072078) | 3.13698877 |
| 70 | intra-Golgi vesicle-mediated transport (GO:0006891) | 3.08214392 |
| 71 | male meiosis (GO:0007140) | 3.02963005 |
| 72 | detection of light stimulus involved in visual perception (GO:0050908) | 2.96887330 |
| 73 | detection of light stimulus involved in sensory perception (GO:0050962) | 2.96887330 |
| 74 | DNA methylation involved in gamete generation (GO:0043046) | 2.92449047 |
| 75 | regulation of centriole replication (GO:0046599) | 2.85956821 |
| 76 | cilium organization (GO:0044782) | 2.80170863 |
| 77 | cilium assembly (GO:0042384) | 2.77796763 |
| 78 | indole-containing compound catabolic process (GO:0042436) | 2.75224654 |
| 79 | indolalkylamine catabolic process (GO:0046218) | 2.75224654 |
| 80 | tryptophan catabolic process (GO:0006569) | 2.75224654 |
| 81 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 2.73604217 |
| 82 | amine catabolic process (GO:0009310) | 2.68801952 |
| 83 | cellular biogenic amine catabolic process (GO:0042402) | 2.68801952 |
| 84 | positive regulation of guanylate cyclase activity (GO:0031284) | 2.68296955 |
| 85 | somite rostral/caudal axis specification (GO:0032525) | 2.67626614 |
| 86 | nonmotile primary cilium assembly (GO:0035058) | 2.64496127 |
| 87 | regulation of guanylate cyclase activity (GO:0031282) | 2.61876262 |
| 88 | brain morphogenesis (GO:0048854) | 2.61114501 |
| 89 | photoreceptor cell maintenance (GO:0045494) | 2.58534947 |
| 90 | intraciliary transport (GO:0042073) | 2.55302947 |
| 91 | peptidyl-glutamic acid modification (GO:0018200) | 2.53595772 |
| 92 | regulation of hexokinase activity (GO:1903299) | 2.52116787 |
| 93 | regulation of glucokinase activity (GO:0033131) | 2.52116787 |
| 94 | ventricular system development (GO:0021591) | 2.51617499 |
| 95 | nicotinamide nucleotide biosynthetic process (GO:0019359) | 2.50708450 |
| 96 | pyridine nucleotide biosynthetic process (GO:0019363) | 2.50708450 |
| 97 | spinal cord motor neuron differentiation (GO:0021522) | 2.50431430 |
| 98 | protein localization to cilium (GO:0061512) | 2.49293447 |
| 99 | chromatin silencing (GO:0006342) | 2.48791895 |
| 100 | meiosis I (GO:0007127) | 2.48044532 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 3.65877461 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.22337621 |
| 3 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.57777060 |
| 4 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.24541356 |
| 5 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.20165615 |
| 6 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.20165615 |
| 7 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.13956416 |
| 8 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.11530489 |
| 9 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 2.06829282 |
| 10 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.06663385 |
| 11 | FUS_26573619_Chip-Seq_HEK293_Human | 2.01551685 |
| 12 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.94401983 |
| 13 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.94401983 |
| 14 | VDR_22108803_ChIP-Seq_LS180_Human | 1.88559089 |
| 15 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.86780542 |
| 16 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.86650654 |
| 17 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.86313682 |
| 18 | ERA_21632823_ChIP-Seq_H3396_Human | 1.83411535 |
| 19 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.82098849 |
| 20 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.81064938 |
| 21 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.75529099 |
| 22 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.74944477 |
| 23 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.64328254 |
| 24 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.60990395 |
| 25 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.60293306 |
| 26 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.55332765 |
| 27 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.55308854 |
| 28 | AR_25329375_ChIP-Seq_VCAP_Human | 1.55091536 |
| 29 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.53340350 |
| 30 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.52770934 |
| 31 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.51138154 |
| 32 | P300_19829295_ChIP-Seq_ESCs_Human | 1.50293189 |
| 33 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.49015210 |
| 34 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.47594820 |
| 35 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.44382433 |
| 36 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.43606817 |
| 37 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.40552165 |
| 38 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.40489008 |
| 39 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.39425306 |
| 40 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.39056888 |
| 41 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.38243575 |
| 42 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.37536992 |
| 43 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.37154396 |
| 44 | NCOR_22424771_ChIP-Seq_293T_Human | 1.36748711 |
| 45 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.35880311 |
| 46 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.35351676 |
| 47 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.34460480 |
| 48 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 1.34181589 |
| 49 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.33471222 |
| 50 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.33194741 |
| 51 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.32922455 |
| 52 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.31159329 |
| 53 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.29597327 |
| 54 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.29100413 |
| 55 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.28090503 |
| 56 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.27201616 |
| 57 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.26633340 |
| 58 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.26633340 |
| 59 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.25129570 |
| 60 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.25129570 |
| 61 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.24559089 |
| 62 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.23865098 |
| 63 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.23766113 |
| 64 | NFYB_21822215_ChIP-Seq_K562_Human | 1.23466646 |
| 65 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.22813723 |
| 66 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.22272020 |
| 67 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.20753310 |
| 68 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.20407185 |
| 69 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.19212413 |
| 70 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.18562208 |
| 71 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.18050588 |
| 72 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.16902871 |
| 73 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.16812770 |
| 74 | TBL1_22424771_ChIP-Seq_293T_Human | 1.16290186 |
| 75 | NFYA_21822215_ChIP-Seq_K562_Human | 1.16216361 |
| 76 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.16044139 |
| 77 | P300_27268052_Chip-Seq_Bcells_Human | 1.16007933 |
| 78 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.15432004 |
| 79 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.14840105 |
| 80 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.14090936 |
| 81 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.13742433 |
| 82 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.12557913 |
| 83 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.11666681 |
| 84 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 1.11250064 |
| 85 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.11033043 |
| 86 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.10228262 |
| 87 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.09536898 |
| 88 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.09299681 |
| 89 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.08718272 |
| 90 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.08081757 |
| 91 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.07569548 |
| 92 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 1.07442807 |
| 93 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.06998374 |
| 94 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.05477535 |
| 95 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.05145645 |
| 96 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.02636386 |
| 97 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.02585491 |
| 98 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.02488330 |
| 99 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.02369054 |
| 100 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.01911828 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 7.56181588 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 3.58785753 |
| 3 | MP0003878_abnormal_ear_physiology | 3.58785753 |
| 4 | MP0005670_abnormal_white_adipose | 3.09340662 |
| 5 | MP0003698_abnormal_male_reproductive | 2.90753670 |
| 6 | MP0002138_abnormal_hepatobiliary_system | 2.88032772 |
| 7 | MP0005379_endocrine/exocrine_gland_phen | 2.57357785 |
| 8 | MP0001929_abnormal_gametogenesis | 2.54531423 |
| 9 | MP0003646_muscle_fatigue | 2.33802375 |
| 10 | MP0003011_delayed_dark_adaptation | 2.21169318 |
| 11 | MP0003195_calcinosis | 2.09017845 |
| 12 | MP0006292_abnormal_olfactory_placode | 2.02197210 |
| 13 | MP0005551_abnormal_eye_electrophysiolog | 1.97322516 |
| 14 | MP0001485_abnormal_pinna_reflex | 1.91754738 |
| 15 | MP0002837_dystrophic_cardiac_calcinosis | 1.85737199 |
| 16 | MP0003787_abnormal_imprinting | 1.61977347 |
| 17 | MP0002163_abnormal_gland_morphology | 1.60385379 |
| 18 | MP0005646_abnormal_pituitary_gland | 1.49750245 |
| 19 | MP0002822_catalepsy | 1.48624139 |
| 20 | MP0008877_abnormal_DNA_methylation | 1.47669821 |
| 21 | MP0002161_abnormal_fertility/fecundity | 1.47130027 |
| 22 | MP0001486_abnormal_startle_reflex | 1.42844900 |
| 23 | MP0002132_abnormal_respiratory_system | 1.41207449 |
| 24 | MP0001968_abnormal_touch/_nociception | 1.40966137 |
| 25 | MP0002653_abnormal_ependyma_morphology | 1.37080600 |
| 26 | MP0004043_abnormal_pH_regulation | 1.36331191 |
| 27 | MP0001501_abnormal_sleep_pattern | 1.34597940 |
| 28 | MP0001348_abnormal_lacrimal_gland | 1.30926891 |
| 29 | MP0001666_abnormal_nutrient_absorption | 1.30915321 |
| 30 | MP0005084_abnormal_gallbladder_morpholo | 1.30628557 |
| 31 | MP0002210_abnormal_sex_determination | 1.30574618 |
| 32 | MP0005645_abnormal_hypothalamus_physiol | 1.29111662 |
| 33 | MP0008004_abnormal_stomach_pH | 1.28864062 |
| 34 | MP0004742_abnormal_vestibular_system | 1.26389741 |
| 35 | MP0002139_abnormal_hepatobiliary_system | 1.24338751 |
| 36 | MP0002928_abnormal_bile_duct | 1.24201023 |
| 37 | MP0003718_maternal_effect | 1.23623775 |
| 38 | MP0001984_abnormal_olfaction | 1.21341384 |
| 39 | MP0005365_abnormal_bile_salt | 1.19469056 |
| 40 | MP0001986_abnormal_taste_sensitivity | 1.15854874 |
| 41 | MP0008875_abnormal_xenobiotic_pharmacok | 1.15188236 |
| 42 | MP0002876_abnormal_thyroid_physiology | 1.14400411 |
| 43 | MP0005253_abnormal_eye_physiology | 1.13988113 |
| 44 | MP0005310_abnormal_salivary_gland | 1.13848552 |
| 45 | MP0001765_abnormal_ion_homeostasis | 1.11644734 |
| 46 | MP0002638_abnormal_pupillary_reflex | 1.11209436 |
| 47 | MP0002277_abnormal_respiratory_mucosa | 1.11142944 |
| 48 | MP0002282_abnormal_trachea_morphology | 1.09141287 |
| 49 | MP0001963_abnormal_hearing_physiology | 1.08601300 |
| 50 | MP0010386_abnormal_urinary_bladder | 1.08488276 |
| 51 | MP0003172_abnormal_lysosome_physiology | 1.08197414 |
| 52 | MP0002102_abnormal_ear_morphology | 1.07616841 |
| 53 | MP0000653_abnormal_sex_gland | 1.06858535 |
| 54 | MP0004885_abnormal_endolymph | 1.05952110 |
| 55 | MP0001145_abnormal_male_reproductive | 1.05599241 |
| 56 | MP0000026_abnormal_inner_ear | 1.05356799 |
| 57 | MP0005408_hypopigmentation | 1.04366987 |
| 58 | MP0002229_neurodegeneration | 1.03463563 |
| 59 | MP0010329_abnormal_lipoprotein_level | 1.00347237 |
| 60 | MP0004142_abnormal_muscle_tone | 0.99834368 |
| 61 | MP0005332_abnormal_amino_acid | 0.98887386 |
| 62 | MP0002557_abnormal_social/conspecific_i | 0.98656302 |
| 63 | MP0009745_abnormal_behavioral_response | 0.98259901 |
| 64 | MP0002735_abnormal_chemical_nociception | 0.98120409 |
| 65 | MP0003183_abnormal_peptide_metabolism | 0.96798709 |
| 66 | MP0002127_abnormal_cardiovascular_syste | 0.96739688 |
| 67 | MP0002272_abnormal_nervous_system | 0.96011699 |
| 68 | MP0000516_abnormal_urinary_system | 0.94535511 |
| 69 | MP0005367_renal/urinary_system_phenotyp | 0.94535511 |
| 70 | MP0009764_decreased_sensitivity_to | 0.93191562 |
| 71 | MP0002693_abnormal_pancreas_physiology | 0.92751833 |
| 72 | MP0002733_abnormal_thermal_nociception | 0.91531112 |
| 73 | MP0003252_abnormal_bile_duct | 0.91426011 |
| 74 | MP0003879_abnormal_hair_cell | 0.90867187 |
| 75 | MP0001970_abnormal_pain_threshold | 0.90710763 |
| 76 | MP0008789_abnormal_olfactory_epithelium | 0.90652606 |
| 77 | MP0000678_abnormal_parathyroid_gland | 0.90007874 |
| 78 | MP0001905_abnormal_dopamine_level | 0.86722526 |
| 79 | MP0008995_early_reproductive_senescence | 0.86368083 |
| 80 | MP0005636_abnormal_mineral_homeostasis | 0.83106987 |
| 81 | MP0008872_abnormal_physiological_respon | 0.82895068 |
| 82 | MP0002160_abnormal_reproductive_system | 0.82618368 |
| 83 | MP0002234_abnormal_pharynx_morphology | 0.81605034 |
| 84 | MP0005535_abnormal_body_temperature | 0.80573657 |
| 85 | MP0005174_abnormal_tail_pigmentation | 0.78269629 |
| 86 | MP0002249_abnormal_larynx_morphology | 0.78052166 |
| 87 | MP0002067_abnormal_sensory_capabilities | 0.75011654 |
| 88 | MP0005085_abnormal_gallbladder_physiolo | 0.74961278 |
| 89 | MP0003136_yellow_coat_color | 0.74260759 |
| 90 | MP0005394_taste/olfaction_phenotype | 0.73303496 |
| 91 | MP0005499_abnormal_olfactory_system | 0.73303496 |
| 92 | MP0001944_abnormal_pancreas_morphology | 0.71002749 |
| 93 | MP0002572_abnormal_emotion/affect_behav | 0.70996341 |
| 94 | MP0003121_genomic_imprinting | 0.70660432 |
| 95 | MP0000230_abnormal_systemic_arterial | 0.70455269 |
| 96 | MP0004133_heterotaxia | 0.70271046 |
| 97 | MP0005448_abnormal_energy_balance | 0.70173810 |
| 98 | MP0000427_abnormal_hair_cycle | 0.69869958 |
| 99 | MP0004085_abnormal_heartbeat | 0.68368569 |
| 100 | MP0006072_abnormal_retinal_apoptosis | 0.68271100 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 5.76506702 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.30602445 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 5.30602445 |
| 4 | Tubulointerstitial nephritis (HP:0001970) | 4.48977672 |
| 5 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.39506431 |
| 6 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.98152529 |
| 7 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.98152529 |
| 8 | Abnormal ciliary motility (HP:0012262) | 3.91557383 |
| 9 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.90883534 |
| 10 | Abnormal respiratory motile cilium physiology (HP:0012261) | 3.87826926 |
| 11 | Nephronophthisis (HP:0000090) | 3.77053875 |
| 12 | Attenuation of retinal blood vessels (HP:0007843) | 3.71155569 |
| 13 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.59895044 |
| 14 | Chronic hepatic failure (HP:0100626) | 3.59602637 |
| 15 | Abnormality of the renal medulla (HP:0100957) | 3.42874248 |
| 16 | Pancreatic cysts (HP:0001737) | 3.22229799 |
| 17 | Abnormal drinking behavior (HP:0030082) | 3.21908710 |
| 18 | Polydipsia (HP:0001959) | 3.21908710 |
| 19 | Pancreatic fibrosis (HP:0100732) | 3.14265368 |
| 20 | Abnormal urine output (HP:0012590) | 3.13701230 |
| 21 | Tubular atrophy (HP:0000092) | 3.03607967 |
| 22 | Polyuria (HP:0000103) | 3.02314187 |
| 23 | Abnormality of renal excretion (HP:0011036) | 2.97564547 |
| 24 | Facial shape deformation (HP:0011334) | 2.95810630 |
| 25 | Potter facies (HP:0002009) | 2.95810630 |
| 26 | Abnormality of macular pigmentation (HP:0008002) | 2.84558757 |
| 27 | Abnormality of midbrain morphology (HP:0002418) | 2.80875844 |
| 28 | Molar tooth sign on MRI (HP:0002419) | 2.80875844 |
| 29 | Congenital stationary night blindness (HP:0007642) | 2.78687067 |
| 30 | True hermaphroditism (HP:0010459) | 2.76904778 |
| 31 | Hyperkalemia (HP:0002153) | 2.74765582 |
| 32 | Tubulointerstitial abnormality (HP:0001969) | 2.71877312 |
| 33 | Stage 5 chronic kidney disease (HP:0003774) | 2.65242989 |
| 34 | Cystic liver disease (HP:0006706) | 2.62998090 |
| 35 | Infertility (HP:0000789) | 2.61557000 |
| 36 | Abnormality of the renal cortex (HP:0011035) | 2.61399246 |
| 37 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 2.56793842 |
| 38 | Type II lissencephaly (HP:0007260) | 2.53516406 |
| 39 | Abnormality of urine glucose concentration (HP:0011016) | 2.50370969 |
| 40 | Glycosuria (HP:0003076) | 2.50370969 |
| 41 | Decreased central vision (HP:0007663) | 2.48297138 |
| 42 | Abnormality of dental color (HP:0011073) | 2.43549602 |
| 43 | Chronic bronchitis (HP:0004469) | 2.42614102 |
| 44 | Nasal polyposis (HP:0100582) | 2.42097601 |
| 45 | Pendular nystagmus (HP:0012043) | 2.40580989 |
| 46 | Medial flaring of the eyebrow (HP:0010747) | 2.40250841 |
| 47 | Progressive cerebellar ataxia (HP:0002073) | 2.37202127 |
| 48 | Occipital encephalocele (HP:0002085) | 2.36688031 |
| 49 | Rhinitis (HP:0012384) | 2.34292883 |
| 50 | Congenital sensorineural hearing impairment (HP:0008527) | 2.33012997 |
| 51 | Azoospermia (HP:0000027) | 2.32550104 |
| 52 | Asymmetric septal hypertrophy (HP:0001670) | 2.28585442 |
| 53 | Cone-rod dystrophy (HP:0000548) | 2.16612954 |
| 54 | Generalized aminoaciduria (HP:0002909) | 2.16517561 |
| 55 | Male infertility (HP:0003251) | 2.16069936 |
| 56 | Impulsivity (HP:0100710) | 2.12087384 |
| 57 | Amelogenesis imperfecta (HP:0000705) | 2.09270828 |
| 58 | Abnormality of potassium homeostasis (HP:0011042) | 2.08853271 |
| 59 | Abnormal spermatogenesis (HP:0008669) | 2.05479365 |
| 60 | Bronchiectasis (HP:0002110) | 2.05438259 |
| 61 | Anencephaly (HP:0002323) | 2.05214730 |
| 62 | Tetany (HP:0001281) | 2.01800293 |
| 63 | Metabolic alkalosis (HP:0200114) | 2.01108631 |
| 64 | Gait imbalance (HP:0002141) | 2.00245052 |
| 65 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 1.98583626 |
| 66 | Enlarged epiphyses (HP:0010580) | 1.97796993 |
| 67 | Abnormality of chloride homeostasis (HP:0011422) | 1.97251295 |
| 68 | Optic nerve hypoplasia (HP:0000609) | 1.96983832 |
| 69 | Congenital primary aphakia (HP:0007707) | 1.94118613 |
| 70 | Hypoplastic ischia (HP:0003175) | 1.93807674 |
| 71 | Abnormality of aromatic amino acid family metabolism (HP:0004338) | 1.92635588 |
| 72 | Hypophosphatemic rickets (HP:0004912) | 1.87712659 |
| 73 | Congenital hepatic fibrosis (HP:0002612) | 1.86858468 |
| 74 | Abolished electroretinogram (ERG) (HP:0000550) | 1.85815771 |
| 75 | Sclerocornea (HP:0000647) | 1.84936726 |
| 76 | Renal Fanconi syndrome (HP:0001994) | 1.84043965 |
| 77 | Renal dysplasia (HP:0000110) | 1.82809488 |
| 78 | Bell-shaped thorax (HP:0001591) | 1.82506979 |
| 79 | Congenital malformation of the right heart (HP:0011723) | 1.82250599 |
| 80 | Double outlet right ventricle (HP:0001719) | 1.82250599 |
| 81 | Decreased circulating renin level (HP:0003351) | 1.81885916 |
| 82 | Delayed CNS myelination (HP:0002188) | 1.80495236 |
| 83 | Abnormality of the nasal mucosa (HP:0000433) | 1.80427219 |
| 84 | Abnormality of renal resorption (HP:0011038) | 1.78506672 |
| 85 | Postaxial foot polydactyly (HP:0001830) | 1.77079772 |
| 86 | Abnormality of the aortic arch (HP:0012303) | 1.76314866 |
| 87 | Bulbous nose (HP:0000414) | 1.75867929 |
| 88 | Nephrogenic diabetes insipidus (HP:0009806) | 1.75464128 |
| 89 | Epiphyseal dysplasia (HP:0002656) | 1.73843458 |
| 90 | Type 2 muscle fiber atrophy (HP:0003554) | 1.72568366 |
| 91 | Hypokalemia (HP:0002900) | 1.72408390 |
| 92 | Hypoalbuminemia (HP:0003073) | 1.72360971 |
| 93 | Abnormal albumin level (HP:0012116) | 1.72360971 |
| 94 | Myokymia (HP:0002411) | 1.71331791 |
| 95 | Macular degeneration (HP:0000608) | 1.70523948 |
| 96 | Metaphyseal dysplasia (HP:0100255) | 1.70212949 |
| 97 | Cerebellar dysplasia (HP:0007033) | 1.69073296 |
| 98 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.67939255 |
| 99 | Tubulointerstitial fibrosis (HP:0005576) | 1.67638273 |
| 100 | Photophobia (HP:0000613) | 1.67509806 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 6.45004843 |
| 2 | INSRR | 3.56507595 |
| 3 | FRK | 3.23653016 |
| 4 | MAP4K2 | 3.07150049 |
| 5 | BMPR1B | 2.74726498 |
| 6 | DDR2 | 2.56977578 |
| 7 | TESK1 | 2.48320117 |
| 8 | PNCK | 2.35602629 |
| 9 | PLK2 | 2.23824291 |
| 10 | ADRBK2 | 2.22773030 |
| 11 | WNK4 | 2.12031120 |
| 12 | ACVR1B | 2.08227011 |
| 13 | GRK1 | 1.97921127 |
| 14 | MAPK15 | 1.95532424 |
| 15 | PRKD3 | 1.85463942 |
| 16 | STK38 | 1.76899632 |
| 17 | NUAK1 | 1.64695698 |
| 18 | PINK1 | 1.57619433 |
| 19 | BRD4 | 1.56987052 |
| 20 | MUSK | 1.53335696 |
| 21 | STK38L | 1.50336644 |
| 22 | CAMK1G | 1.49157763 |
| 23 | MST1R | 1.40697674 |
| 24 | PTK2B | 1.21226617 |
| 25 | TXK | 1.18322601 |
| 26 | OXSR1 | 1.16091360 |
| 27 | IKBKB | 1.15728771 |
| 28 | WNK3 | 1.12222888 |
| 29 | SIK2 | 1.07154336 |
| 30 | FGFR2 | 1.05692768 |
| 31 | CDK19 | 1.05142096 |
| 32 | WNK1 | 1.03502278 |
| 33 | AKT3 | 1.02256637 |
| 34 | STK39 | 0.99012433 |
| 35 | TIE1 | 0.97817945 |
| 36 | PDK2 | 0.93039541 |
| 37 | TNK2 | 0.92478685 |
| 38 | MAP3K4 | 0.91415200 |
| 39 | BRAF | 0.88075964 |
| 40 | PDK1 | 0.87346689 |
| 41 | PRKCG | 0.84091867 |
| 42 | CDK3 | 0.82149862 |
| 43 | MAPK13 | 0.81536440 |
| 44 | ZAK | 0.80507080 |
| 45 | STK16 | 0.77433594 |
| 46 | NTRK3 | 0.75892666 |
| 47 | MAPKAPK3 | 0.73338702 |
| 48 | MAP2K6 | 0.73242989 |
| 49 | TAOK3 | 0.70749008 |
| 50 | ARAF | 0.70258207 |
| 51 | MAP2K2 | 0.70125241 |
| 52 | CAMK1 | 0.69679199 |
| 53 | PRKAA2 | 0.69110480 |
| 54 | PDPK1 | 0.68832768 |
| 55 | MARK3 | 0.67706987 |
| 56 | MAP2K7 | 0.67389958 |
| 57 | TYRO3 | 0.66894338 |
| 58 | TLK1 | 0.63664362 |
| 59 | MKNK2 | 0.63389146 |
| 60 | PRKCQ | 0.63213850 |
| 61 | KIT | 0.61758186 |
| 62 | MAP3K9 | 0.60887891 |
| 63 | CAMK1D | 0.60606692 |
| 64 | ITK | 0.59104045 |
| 65 | PAK3 | 0.58527053 |
| 66 | CHUK | 0.58490421 |
| 67 | PRKG2 | 0.58190774 |
| 68 | PRKCE | 0.57947225 |
| 69 | PRKG1 | 0.57369342 |
| 70 | LATS1 | 0.54398291 |
| 71 | PRKCI | 0.54353430 |
| 72 | TEC | 0.54244950 |
| 73 | DMPK | 0.54201139 |
| 74 | NLK | 0.50251209 |
| 75 | MAP3K13 | 0.47939364 |
| 76 | CAMKK2 | 0.47545037 |
| 77 | PIK3CG | 0.46272161 |
| 78 | PRKACA | 0.44886796 |
| 79 | PRKCZ | 0.43437911 |
| 80 | TNIK | 0.43423256 |
| 81 | NEK6 | 0.42929673 |
| 82 | ADRBK1 | 0.41895295 |
| 83 | GRK7 | 0.41391625 |
| 84 | UHMK1 | 0.40913625 |
| 85 | PIK3CA | 0.40800208 |
| 86 | FER | 0.40650142 |
| 87 | ERBB3 | 0.40584976 |
| 88 | NTRK2 | 0.40372106 |
| 89 | PRKCH | 0.38087678 |
| 90 | IKBKE | 0.36435235 |
| 91 | GRK6 | 0.33720860 |
| 92 | RPS6KA1 | 0.33505355 |
| 93 | NME1 | 0.30888168 |
| 94 | DYRK1B | 0.29544671 |
| 95 | DAPK2 | 0.29402772 |
| 96 | PRKCA | 0.29158138 |
| 97 | PRKAA1 | 0.28828860 |
| 98 | MAPK1 | 0.28498076 |
| 99 | TGFBR1 | 0.27211926 |
| 100 | SGK1 | 0.27093045 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 4.94968043 |
| 2 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 2.57096136 |
| 3 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.40622590 |
| 4 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 2.27940619 |
| 5 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 2.26153451 |
| 6 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 2.21022333 |
| 7 | Olfactory transduction_Homo sapiens_hsa04740 | 2.13836752 |
| 8 | Phototransduction_Homo sapiens_hsa04744 | 2.12724442 |
| 9 | Allograft rejection_Homo sapiens_hsa05330 | 2.08596599 |
| 10 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 2.02073753 |
| 11 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.96907855 |
| 12 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.94135919 |
| 13 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.81405528 |
| 14 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.79065110 |
| 15 | Retinol metabolism_Homo sapiens_hsa00830 | 1.72128904 |
| 16 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.59984915 |
| 17 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 1.58635094 |
| 18 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.54104036 |
| 19 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.52457825 |
| 20 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.52001871 |
| 21 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.48419192 |
| 22 | Protein export_Homo sapiens_hsa03060 | 1.45832533 |
| 23 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.45511057 |
| 24 | Asthma_Homo sapiens_hsa05310 | 1.39959393 |
| 25 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.37241368 |
| 26 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 1.34580210 |
| 27 | Peroxisome_Homo sapiens_hsa04146 | 1.33500325 |
| 28 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.32422261 |
| 29 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 1.31960440 |
| 30 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.31223506 |
| 31 | Huntingtons disease_Homo sapiens_hsa05016 | 1.30155340 |
| 32 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.29431033 |
| 33 | Taste transduction_Homo sapiens_hsa04742 | 1.28577036 |
| 34 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 1.28525346 |
| 35 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.23220498 |
| 36 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.22947901 |
| 37 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.22348233 |
| 38 | Parkinsons disease_Homo sapiens_hsa05012 | 1.21236142 |
| 39 | Basal transcription factors_Homo sapiens_hsa03022 | 1.18879237 |
| 40 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.14768713 |
| 41 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.14353459 |
| 42 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.13366718 |
| 43 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.11611068 |
| 44 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.04482587 |
| 45 | Insulin secretion_Homo sapiens_hsa04911 | 1.03495766 |
| 46 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 1.01585704 |
| 47 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.98519890 |
| 48 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.97909048 |
| 49 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.95479165 |
| 50 | ABC transporters_Homo sapiens_hsa02010 | 0.94597143 |
| 51 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.93087896 |
| 52 | Ribosome_Homo sapiens_hsa03010 | 0.92708515 |
| 53 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.90076390 |
| 54 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.88905042 |
| 55 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.85251848 |
| 56 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.84973532 |
| 57 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.84567786 |
| 58 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.83464166 |
| 59 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.80660478 |
| 60 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.72869321 |
| 61 | RNA degradation_Homo sapiens_hsa03018 | 0.71879253 |
| 62 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 0.68824095 |
| 63 | Alzheimers disease_Homo sapiens_hsa05010 | 0.68809979 |
| 64 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.68456545 |
| 65 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 0.67391269 |
| 66 | Morphine addiction_Homo sapiens_hsa05032 | 0.67143266 |
| 67 | Salivary secretion_Homo sapiens_hsa04970 | 0.66959130 |
| 68 | Histidine metabolism_Homo sapiens_hsa00340 | 0.66049286 |
| 69 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.64743554 |
| 70 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.61287299 |
| 71 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.60114351 |
| 72 | Metabolic pathways_Homo sapiens_hsa01100 | 0.59107972 |
| 73 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 0.58977904 |
| 74 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.58051434 |
| 75 | Nicotine addiction_Homo sapiens_hsa05033 | 0.57749068 |
| 76 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.57306735 |
| 77 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.56933945 |
| 78 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.54064764 |
| 79 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.53083111 |
| 80 | RNA transport_Homo sapiens_hsa03013 | 0.52505451 |
| 81 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.52226592 |
| 82 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.51811335 |
| 83 | Sulfur relay system_Homo sapiens_hsa04122 | 0.50524091 |
| 84 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.46707946 |
| 85 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 0.46345756 |
| 86 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.46307326 |
| 87 | Mineral absorption_Homo sapiens_hsa04978 | 0.46210759 |
| 88 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.46112531 |
| 89 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.45101015 |
| 90 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.44890280 |
| 91 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.44692247 |
| 92 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.44332187 |
| 93 | Purine metabolism_Homo sapiens_hsa00230 | 0.43192360 |
| 94 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.43125462 |
| 95 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.40688016 |
| 96 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.38774605 |
| 97 | RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622 | 0.37757915 |
| 98 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.37129269 |
| 99 | Circadian entrainment_Homo sapiens_hsa04713 | 0.37015337 |
| 100 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.35167541 |

