

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | fusion of sperm to egg plasma membrane (GO:0007342) | 9.96944249 |
| 2 | acrosome reaction (GO:0007340) | 9.37778091 |
| 3 | plasma membrane fusion (GO:0045026) | 7.58997584 |
| 4 | spermatid development (GO:0007286) | 7.05322846 |
| 5 | centriole replication (GO:0007099) | 7.03848332 |
| 6 | protein polyglutamylation (GO:0018095) | 6.96616469 |
| 7 | protein targeting to Golgi (GO:0000042) | 6.76071220 |
| 8 | multicellular organism reproduction (GO:0032504) | 6.73404706 |
| 9 | establishment of protein localization to Golgi (GO:0072600) | 6.56709172 |
| 10 | response to pheromone (GO:0019236) | 6.50392511 |
| 11 | sperm-egg recognition (GO:0035036) | 6.30940585 |
| 12 | axonemal dynein complex assembly (GO:0070286) | 6.24564331 |
| 13 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 6.11376828 |
| 14 | microtubule depolymerization (GO:0007019) | 5.94010392 |
| 15 | single strand break repair (GO:0000012) | 5.90908521 |
| 16 | chromosome condensation (GO:0030261) | 5.88529362 |
| 17 | rRNA methylation (GO:0031167) | 5.83271416 |
| 18 | DNA packaging (GO:0006323) | 5.81345972 |
| 19 | sperm capacitation (GO:0048240) | 5.73039696 |
| 20 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.71656885 |
| 21 | centriole assembly (GO:0098534) | 5.71482287 |
| 22 | reproduction (GO:0000003) | 5.69108034 |
| 23 | cell wall macromolecule metabolic process (GO:0044036) | 5.63862437 |
| 24 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.50100652 |
| 25 | seminiferous tubule development (GO:0072520) | 5.46285831 |
| 26 | calcium ion-dependent exocytosis (GO:0017156) | 5.43132209 |
| 27 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.37010727 |
| 28 | rRNA modification (GO:0000154) | 5.36197918 |
| 29 | regulation of cilium movement (GO:0003352) | 5.33088682 |
| 30 | microtubule polymerization or depolymerization (GO:0031109) | 5.29851529 |
| 31 | cell wall macromolecule catabolic process (GO:0016998) | 5.27186962 |
| 32 | binding of sperm to zona pellucida (GO:0007339) | 5.24935770 |
| 33 | spermatogenesis (GO:0007283) | 5.24615195 |
| 34 | male gamete generation (GO:0048232) | 5.22977646 |
| 35 | cell-cell recognition (GO:0009988) | 5.14405909 |
| 36 | spermatid nucleus differentiation (GO:0007289) | 5.14016620 |
| 37 | protein localization to Golgi apparatus (GO:0034067) | 5.10780853 |
| 38 | cellular ketone body metabolic process (GO:0046950) | 4.98416152 |
| 39 | epithelial cilium movement (GO:0003351) | 4.94249841 |
| 40 | gamete generation (GO:0007276) | 4.82197149 |
| 41 | single fertilization (GO:0007338) | 4.82041158 |
| 42 | regulation of centriole replication (GO:0046599) | 4.74437236 |
| 43 | microtubule severing (GO:0051013) | 4.67920576 |
| 44 | ketone body metabolic process (GO:1902224) | 4.41157683 |
| 45 | cilium movement (GO:0003341) | 4.39785280 |
| 46 | piRNA metabolic process (GO:0034587) | 4.32652908 |
| 47 | fertilization (GO:0009566) | 4.12672174 |
| 48 | coenzyme catabolic process (GO:0009109) | 4.07781593 |
| 49 | motile cilium assembly (GO:0044458) | 4.06944924 |
| 50 | male meiosis (GO:0007140) | 4.03747120 |
| 51 | germ cell development (GO:0007281) | 3.98984754 |
| 52 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.82867121 |
| 53 | organic cation transport (GO:0015695) | 3.78333078 |
| 54 | multicellular organismal reproductive process (GO:0048609) | 3.77267775 |
| 55 | male meiosis I (GO:0007141) | 3.71947182 |
| 56 | negative regulation of inclusion body assembly (GO:0090084) | 3.70665208 |
| 57 | sexual reproduction (GO:0019953) | 3.65264259 |
| 58 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.64504293 |
| 59 | regulation of microtubule-based movement (GO:0060632) | 3.46901425 |
| 60 | RNA destabilization (GO:0050779) | 3.42337903 |
| 61 | axoneme assembly (GO:0035082) | 3.37665637 |
| 62 | positive regulation of Rab GTPase activity (GO:0032851) | 3.37315348 |
| 63 | regulation of Rab GTPase activity (GO:0032313) | 3.37315348 |
| 64 | regulation of meiosis I (GO:0060631) | 3.35641066 |
| 65 | DNA methylation involved in gamete generation (GO:0043046) | 3.33021134 |
| 66 | polyamine biosynthetic process (GO:0006596) | 3.32124948 |
| 67 | musculoskeletal movement (GO:0050881) | 3.18039064 |
| 68 | multicellular organismal movement (GO:0050879) | 3.18039064 |
| 69 | glomerular visceral epithelial cell development (GO:0072015) | 3.15559233 |
| 70 | microtubule nucleation (GO:0007020) | 3.14922673 |
| 71 | intra-Golgi vesicle-mediated transport (GO:0006891) | 3.09240842 |
| 72 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.05552235 |
| 73 | regulation of inclusion body assembly (GO:0090083) | 3.04624083 |
| 74 | regulation of somitogenesis (GO:0014807) | 3.00164376 |
| 75 | glomerular epithelial cell development (GO:0072310) | 2.97245358 |
| 76 | positive regulation of guanylate cyclase activity (GO:0031284) | 2.96967209 |
| 77 | histone exchange (GO:0043486) | 2.96368607 |
| 78 | ventricular system development (GO:0021591) | 2.92870935 |
| 79 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.90402545 |
| 80 | cofactor catabolic process (GO:0051187) | 2.83700881 |
| 81 | glycerol ether metabolic process (GO:0006662) | 2.83013241 |
| 82 | meiosis I (GO:0007127) | 2.81161095 |
| 83 | cellular biogenic amine biosynthetic process (GO:0042401) | 2.81115656 |
| 84 | nucleus organization (GO:0006997) | 2.80146799 |
| 85 | cellular biogenic amine catabolic process (GO:0042402) | 2.74463660 |
| 86 | amine catabolic process (GO:0009310) | 2.74463660 |
| 87 | chromatin silencing (GO:0006342) | 2.74042524 |
| 88 | cilium organization (GO:0044782) | 2.72106218 |
| 89 | spinal cord motor neuron differentiation (GO:0021522) | 2.71207969 |
| 90 | acrosome assembly (GO:0001675) | 2.70516497 |
| 91 | cilium assembly (GO:0042384) | 2.70058639 |
| 92 | regulation of guanylate cyclase activity (GO:0031282) | 2.66784318 |
| 93 | ether metabolic process (GO:0018904) | 2.64639393 |
| 94 | amine biosynthetic process (GO:0009309) | 2.64571934 |
| 95 | cell recognition (GO:0008037) | 2.61604204 |
| 96 | nephron epithelium morphogenesis (GO:0072088) | 2.60062043 |
| 97 | nephron tubule morphogenesis (GO:0072078) | 2.60062043 |
| 98 | chemosensory behavior (GO:0007635) | 2.58440719 |
| 99 | detection of light stimulus involved in sensory perception (GO:0050962) | 2.57702917 |
| 100 | sperm motility (GO:0030317) | 10.1065823 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.56011901 |
| 2 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 3.25454123 |
| 3 | EZH2_22144423_ChIP-Seq_EOC_Human | 3.10877168 |
| 4 | FUS_26573619_Chip-Seq_HEK293_Human | 2.93278537 |
| 5 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.71604551 |
| 6 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.58856011 |
| 7 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.57625645 |
| 8 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.49514871 |
| 9 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.49514871 |
| 10 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.43612099 |
| 11 | VDR_22108803_ChIP-Seq_LS180_Human | 2.39275159 |
| 12 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.18979675 |
| 13 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.18979675 |
| 14 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.06665787 |
| 15 | P300_19829295_ChIP-Seq_ESCs_Human | 2.04026992 |
| 16 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.99608335 |
| 17 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.98614897 |
| 18 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.96808935 |
| 19 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.94547988 |
| 20 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.79161288 |
| 21 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.71463531 |
| 22 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.67434685 |
| 23 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.64808398 |
| 24 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.62855419 |
| 25 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.62511564 |
| 26 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.57719449 |
| 27 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.56941530 |
| 28 | AR_25329375_ChIP-Seq_VCAP_Human | 1.54109222 |
| 29 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.52519279 |
| 30 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.52101104 |
| 31 | ERA_21632823_ChIP-Seq_H3396_Human | 1.51591632 |
| 32 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.50964735 |
| 33 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.50121660 |
| 34 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.49577777 |
| 35 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.48910987 |
| 36 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.48446834 |
| 37 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.46952235 |
| 38 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.46952235 |
| 39 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.46343362 |
| 40 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.46004364 |
| 41 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.43308209 |
| 42 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.42466008 |
| 43 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.42044039 |
| 44 | STAT3_23295773_ChIP-Seq_U87_Human | 1.41454204 |
| 45 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.40218105 |
| 46 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.39353170 |
| 47 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.39270614 |
| 48 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.38204192 |
| 49 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.37663388 |
| 50 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.37137895 |
| 51 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.36769284 |
| 52 | NFYB_21822215_ChIP-Seq_K562_Human | 1.35779333 |
| 53 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.34491376 |
| 54 | TBL1_22424771_ChIP-Seq_293T_Human | 1.34256613 |
| 55 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.32085358 |
| 56 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.30758190 |
| 57 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.29620377 |
| 58 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.28617243 |
| 59 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.28447197 |
| 60 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.28133424 |
| 61 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.27977296 |
| 62 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.27499176 |
| 63 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.27499176 |
| 64 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.27012683 |
| 65 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.26888573 |
| 66 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.25396144 |
| 67 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.24377397 |
| 68 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.23577587 |
| 69 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.23051911 |
| 70 | NCOR_22424771_ChIP-Seq_293T_Human | 1.22283079 |
| 71 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.21618155 |
| 72 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.20934181 |
| 73 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.20709768 |
| 74 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.20326873 |
| 75 | TCF4_23295773_ChIP-Seq_U87_Human | 1.20024504 |
| 76 | NFYA_21822215_ChIP-Seq_K562_Human | 1.19717559 |
| 77 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.19611129 |
| 78 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.19487949 |
| 79 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.18708121 |
| 80 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.18605614 |
| 81 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.17541322 |
| 82 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.16808748 |
| 83 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.15524481 |
| 84 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 1.15013835 |
| 85 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.13473909 |
| 86 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.11997035 |
| 87 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.11980532 |
| 88 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.11287490 |
| 89 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.11194466 |
| 90 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.11028241 |
| 91 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.07496280 |
| 92 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.06707575 |
| 93 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.04839817 |
| 94 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.03511806 |
| 95 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.02982593 |
| 96 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.02686982 |
| 97 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.02459625 |
| 98 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.01292816 |
| 99 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.01175726 |
| 100 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.00273295 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 8.65639134 |
| 2 | MP0003878_abnormal_ear_physiology | 4.92492785 |
| 3 | MP0005377_hearing/vestibular/ear_phenot | 4.92492785 |
| 4 | MP0003011_delayed_dark_adaptation | 3.51870443 |
| 5 | MP0003698_abnormal_male_reproductive | 3.38592380 |
| 6 | MP0001929_abnormal_gametogenesis | 2.95200363 |
| 7 | MP0001968_abnormal_touch/_nociception | 2.62886410 |
| 8 | MP0005670_abnormal_white_adipose | 2.44836985 |
| 9 | MP0008877_abnormal_DNA_methylation | 2.41040233 |
| 10 | MP0003880_abnormal_central_pattern | 2.34951791 |
| 11 | MP0003646_muscle_fatigue | 2.27848590 |
| 12 | MP0001485_abnormal_pinna_reflex | 2.15724398 |
| 13 | MP0003718_maternal_effect | 2.14990648 |
| 14 | MP0001486_abnormal_startle_reflex | 2.03375862 |
| 15 | MP0005551_abnormal_eye_electrophysiolog | 1.98064899 |
| 16 | MP0005379_endocrine/exocrine_gland_phen | 1.87706732 |
| 17 | MP0002736_abnormal_nociception_after | 1.83806962 |
| 18 | MP0002161_abnormal_fertility/fecundity | 1.82068375 |
| 19 | MP0002653_abnormal_ependyma_morphology | 1.79551981 |
| 20 | MP0002210_abnormal_sex_determination | 1.70364210 |
| 21 | MP0003136_yellow_coat_color | 1.67829306 |
| 22 | MP0003195_calcinosis | 1.66332828 |
| 23 | MP0006276_abnormal_autonomic_nervous | 1.60488452 |
| 24 | MP0001986_abnormal_taste_sensitivity | 1.55559211 |
| 25 | MP0001145_abnormal_male_reproductive | 1.48669441 |
| 26 | MP0005253_abnormal_eye_physiology | 1.44526859 |
| 27 | MP0001984_abnormal_olfaction | 1.43890972 |
| 28 | MP0000653_abnormal_sex_gland | 1.43059493 |
| 29 | MP0005645_abnormal_hypothalamus_physiol | 1.42713108 |
| 30 | MP0005423_abnormal_somatic_nervous | 1.38202872 |
| 31 | MP0008995_early_reproductive_senescence | 1.38177454 |
| 32 | MP0006292_abnormal_olfactory_placode | 1.37205699 |
| 33 | MP0002735_abnormal_chemical_nociception | 1.33326920 |
| 34 | MP0002837_dystrophic_cardiac_calcinosis | 1.25765126 |
| 35 | MP0001963_abnormal_hearing_physiology | 1.25002673 |
| 36 | MP0002733_abnormal_thermal_nociception | 1.24315445 |
| 37 | MP0002102_abnormal_ear_morphology | 1.20136393 |
| 38 | MP0005395_other_phenotype | 1.16390650 |
| 39 | MP0002557_abnormal_social/conspecific_i | 1.11959754 |
| 40 | MP0000026_abnormal_inner_ear | 1.10660350 |
| 41 | MP0004742_abnormal_vestibular_system | 1.10093786 |
| 42 | MP0001348_abnormal_lacrimal_gland | 1.08912007 |
| 43 | MP0002638_abnormal_pupillary_reflex | 1.05890780 |
| 44 | MP0009745_abnormal_behavioral_response | 1.04998935 |
| 45 | MP0002272_abnormal_nervous_system | 1.00234797 |
| 46 | MP0002067_abnormal_sensory_capabilities | 0.98953278 |
| 47 | MP0002132_abnormal_respiratory_system | 0.97703839 |
| 48 | MP0003879_abnormal_hair_cell | 0.97697642 |
| 49 | MP0001905_abnormal_dopamine_level | 0.97348208 |
| 50 | MP0010329_abnormal_lipoprotein_level | 0.94834704 |
| 51 | MP0005084_abnormal_gallbladder_morpholo | 0.94310563 |
| 52 | MP0001970_abnormal_pain_threshold | 0.92924473 |
| 53 | MP0009697_abnormal_copulation | 0.92402866 |
| 54 | MP0002572_abnormal_emotion/affect_behav | 0.92091788 |
| 55 | MP0001501_abnormal_sleep_pattern | 0.91811340 |
| 56 | MP0008872_abnormal_physiological_respon | 0.91782445 |
| 57 | MP0005636_abnormal_mineral_homeostasis | 0.90901348 |
| 58 | MP0008789_abnormal_olfactory_epithelium | 0.88111537 |
| 59 | MP0002127_abnormal_cardiovascular_syste | 0.87755776 |
| 60 | MP0002138_abnormal_hepatobiliary_system | 0.87402132 |
| 61 | MP0003045_fibrosis | 0.87350380 |
| 62 | MP0005646_abnormal_pituitary_gland | 0.86423506 |
| 63 | MP0002229_neurodegeneration | 0.86092302 |
| 64 | MP0000631_abnormal_neuroendocrine_gland | 0.83970367 |
| 65 | MP0002234_abnormal_pharynx_morphology | 0.81232723 |
| 66 | MP0001765_abnormal_ion_homeostasis | 0.80836585 |
| 67 | MP0002928_abnormal_bile_duct | 0.80556797 |
| 68 | MP0000049_abnormal_middle_ear | 0.80343432 |
| 69 | MP0002876_abnormal_thyroid_physiology | 0.80141020 |
| 70 | MP0005360_urolithiasis | 0.79717894 |
| 71 | MP0000955_abnormal_spinal_cord | 0.78852014 |
| 72 | MP0002282_abnormal_trachea_morphology | 0.78672214 |
| 73 | MP0009046_muscle_twitch | 0.76372013 |
| 74 | MP0001919_abnormal_reproductive_system | 0.74975751 |
| 75 | MP0002734_abnormal_mechanical_nocicepti | 0.74944477 |
| 76 | MP0005389_reproductive_system_phenotype | 0.73704960 |
| 77 | MP0003137_abnormal_impulse_conducting | 0.71440966 |
| 78 | MP0000230_abnormal_systemic_arterial | 0.71407254 |
| 79 | MP0002160_abnormal_reproductive_system | 0.71104201 |
| 80 | MP0002938_white_spotting | 0.71025603 |
| 81 | MP0004085_abnormal_heartbeat | 0.69492393 |
| 82 | MP0003936_abnormal_reproductive_system | 0.68141756 |
| 83 | MP0003119_abnormal_digestive_system | 0.67555828 |
| 84 | MP0006072_abnormal_retinal_apoptosis | 0.66090989 |
| 85 | MP0000013_abnormal_adipose_tissue | 0.66089551 |
| 86 | MP0000678_abnormal_parathyroid_gland | 0.65922479 |
| 87 | MP0002249_abnormal_larynx_morphology | 0.64592716 |
| 88 | MP0004019_abnormal_vitamin_homeostasis | 0.62507754 |
| 89 | MP0004859_abnormal_synaptic_plasticity | 0.62427043 |
| 90 | MP0002163_abnormal_gland_morphology | 0.62348728 |
| 91 | MP0005310_abnormal_salivary_gland | 0.62342167 |
| 92 | MP0010368_abnormal_lymphatic_system | 0.62188731 |
| 93 | MP0000566_synostosis | 0.61509017 |
| 94 | MP0002168_other_aberrant_phenotype | 0.61456707 |
| 95 | MP0005394_taste/olfaction_phenotype | 0.61450876 |
| 96 | MP0005499_abnormal_olfactory_system | 0.61450876 |
| 97 | MP0002064_seizures | 0.59807212 |
| 98 | MP0005391_vision/eye_phenotype | 0.59664002 |
| 99 | MP0003635_abnormal_synaptic_transmissio | 0.58512187 |
| 100 | MP0002752_abnormal_somatic_nervous | 0.58413569 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Absent/shortened dynein arms (HP:0200106) | 5.53901831 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.53901831 |
| 3 | Chronic hepatic failure (HP:0100626) | 5.31979408 |
| 4 | Severe visual impairment (HP:0001141) | 5.04163841 |
| 5 | Tubulointerstitial nephritis (HP:0001970) | 4.85593534 |
| 6 | Abnormal ciliary motility (HP:0012262) | 4.71831878 |
| 7 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.56429902 |
| 8 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.55626069 |
| 9 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.55626069 |
| 10 | Attenuation of retinal blood vessels (HP:0007843) | 4.51275094 |
| 11 | Abnormality of macular pigmentation (HP:0008002) | 4.08377383 |
| 12 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.04332969 |
| 13 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.96426753 |
| 14 | Nephronophthisis (HP:0000090) | 3.43937518 |
| 15 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.40318945 |
| 16 | Infertility (HP:0000789) | 3.28601875 |
| 17 | Pancreatic fibrosis (HP:0100732) | 3.16193733 |
| 18 | Male infertility (HP:0003251) | 3.16021594 |
| 19 | True hermaphroditism (HP:0010459) | 3.12477534 |
| 20 | Asymmetric septal hypertrophy (HP:0001670) | 3.11312426 |
| 21 | Pancreatic cysts (HP:0001737) | 3.02541875 |
| 22 | Abnormality of the renal medulla (HP:0100957) | 2.93246120 |
| 23 | Optic nerve hypoplasia (HP:0000609) | 2.91593989 |
| 24 | Progressive cerebellar ataxia (HP:0002073) | 2.85941564 |
| 25 | Amelogenesis imperfecta (HP:0000705) | 2.82918457 |
| 26 | Abnormality of dental color (HP:0011073) | 2.76161499 |
| 27 | Abnormal drinking behavior (HP:0030082) | 2.73587426 |
| 28 | Polydipsia (HP:0001959) | 2.73587426 |
| 29 | Rhinitis (HP:0012384) | 2.71973167 |
| 30 | Pendular nystagmus (HP:0012043) | 2.65765499 |
| 31 | Impulsivity (HP:0100710) | 2.59167078 |
| 32 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 2.55613489 |
| 33 | Cone-rod dystrophy (HP:0000548) | 2.53898367 |
| 34 | Hypoalphalipoproteinemia (HP:0003233) | 2.51399715 |
| 35 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.49529780 |
| 36 | Hyperkalemia (HP:0002153) | 2.43297879 |
| 37 | Tubular atrophy (HP:0000092) | 2.41389524 |
| 38 | Potter facies (HP:0002009) | 2.37149753 |
| 39 | Facial shape deformation (HP:0011334) | 2.37149753 |
| 40 | Tubulointerstitial abnormality (HP:0001969) | 2.36866207 |
| 41 | Renal Fanconi syndrome (HP:0001994) | 2.35369308 |
| 42 | Abnormal spermatogenesis (HP:0008669) | 2.35002517 |
| 43 | Chronic bronchitis (HP:0004469) | 2.32924027 |
| 44 | Abnormal urine output (HP:0012590) | 2.30593452 |
| 45 | Decreased central vision (HP:0007663) | 2.29541190 |
| 46 | Nasal polyposis (HP:0100582) | 2.27468826 |
| 47 | Cerebellar dysplasia (HP:0007033) | 2.27452020 |
| 48 | Polyuria (HP:0000103) | 2.26550579 |
| 49 | Type II lissencephaly (HP:0007260) | 2.22911558 |
| 50 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.21621033 |
| 51 | Congenital sensorineural hearing impairment (HP:0008527) | 2.18506684 |
| 52 | Bronchiectasis (HP:0002110) | 2.14967874 |
| 53 | Azoospermia (HP:0000027) | 2.13485193 |
| 54 | Molar tooth sign on MRI (HP:0002419) | 2.12215849 |
| 55 | Abnormality of midbrain morphology (HP:0002418) | 2.12215849 |
| 56 | Generalized aminoaciduria (HP:0002909) | 2.11806267 |
| 57 | Resting tremor (HP:0002322) | 2.07776318 |
| 58 | Stage 5 chronic kidney disease (HP:0003774) | 2.06289046 |
| 59 | Sclerocornea (HP:0000647) | 2.06154816 |
| 60 | Glycosuria (HP:0003076) | 2.05390291 |
| 61 | Abnormality of urine glucose concentration (HP:0011016) | 2.05390291 |
| 62 | Growth hormone deficiency (HP:0000824) | 2.03765535 |
| 63 | Postural instability (HP:0002172) | 2.03685589 |
| 64 | Male pseudohermaphroditism (HP:0000037) | 2.02651368 |
| 65 | Anencephaly (HP:0002323) | 2.02640236 |
| 66 | Abnormality of renal excretion (HP:0011036) | 2.00940176 |
| 67 | Tetany (HP:0001281) | 1.96461334 |
| 68 | Cystic liver disease (HP:0006706) | 1.95397769 |
| 69 | Hypoplasia of the thymus (HP:0000778) | 1.95026706 |
| 70 | Scotoma (HP:0000575) | 1.86232183 |
| 71 | Photophobia (HP:0000613) | 1.84586420 |
| 72 | Congenital stationary night blindness (HP:0007642) | 1.83607852 |
| 73 | Abnormality of the aortic arch (HP:0012303) | 1.82625035 |
| 74 | Progressive sensorineural hearing impairment (HP:0000408) | 1.82523740 |
| 75 | Abnormality of the renal cortex (HP:0011035) | 1.81793683 |
| 76 | Occipital encephalocele (HP:0002085) | 1.81037955 |
| 77 | Menstrual irregularities (HP:0000858) | 1.79960984 |
| 78 | Abnormal albumin level (HP:0012116) | 1.78924239 |
| 79 | Hypoalbuminemia (HP:0003073) | 1.78924239 |
| 80 | Renal dysplasia (HP:0000110) | 1.78244677 |
| 81 | Type 2 muscle fiber atrophy (HP:0003554) | 1.77229973 |
| 82 | Hypoplastic ischia (HP:0003175) | 1.76728281 |
| 83 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 1.75509055 |
| 84 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 1.74896618 |
| 85 | Portal hypertension (HP:0001409) | 1.72916663 |
| 86 | Abnormality of the ischium (HP:0003174) | 1.72542245 |
| 87 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 1.71562072 |
| 88 | Horizontal nystagmus (HP:0000666) | 1.70369474 |
| 89 | Renovascular hypertension (HP:0100817) | 1.70214436 |
| 90 | Abolished electroretinogram (ERG) (HP:0000550) | 1.69305823 |
| 91 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 1.67731833 |
| 92 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 1.65149805 |
| 93 | Myokymia (HP:0002411) | 1.64993746 |
| 94 | Pigmentary retinal degeneration (HP:0001146) | 1.64922640 |
| 95 | Keratoconus (HP:0000563) | 1.64892091 |
| 96 | Increased corneal curvature (HP:0100692) | 1.64892091 |
| 97 | Congenital hepatic fibrosis (HP:0002612) | 1.64716011 |
| 98 | Gastrointestinal atresia (HP:0002589) | 1.64621822 |
| 99 | Poor coordination (HP:0002370) | 1.64197931 |
| 100 | Type II diabetes mellitus (HP:0005978) | 1.63886629 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 7.00006898 |
| 2 | INSRR | 4.63584076 |
| 3 | STK38L | 3.33087718 |
| 4 | PLK2 | 3.09981668 |
| 5 | KDR | 3.00385470 |
| 6 | PINK1 | 2.93076264 |
| 7 | MAP4K2 | 2.89031247 |
| 8 | PNCK | 2.73485286 |
| 9 | FRK | 2.47827769 |
| 10 | TESK1 | 2.41748559 |
| 11 | BRD4 | 2.05832637 |
| 12 | PIK3CG | 1.97320727 |
| 13 | STK38 | 1.92033821 |
| 14 | PRKD3 | 1.76267036 |
| 15 | ADRBK2 | 1.62956561 |
| 16 | TNIK | 1.60982674 |
| 17 | ZAK | 1.58327263 |
| 18 | NUAK1 | 1.40968811 |
| 19 | MAPK15 | 1.38358092 |
| 20 | WNK3 | 1.35886689 |
| 21 | NEK6 | 1.34540039 |
| 22 | AKT3 | 1.34384221 |
| 23 | CAMK1G | 1.26397780 |
| 24 | CASK | 1.24645212 |
| 25 | GRK1 | 1.22535064 |
| 26 | TIE1 | 1.19515262 |
| 27 | PTK2B | 1.18596968 |
| 28 | WNK4 | 1.18409383 |
| 29 | STK39 | 1.18053666 |
| 30 | DDR2 | 1.15964857 |
| 31 | BMPR1B | 1.15415579 |
| 32 | DYRK2 | 1.09648404 |
| 33 | TYRO3 | 1.03519106 |
| 34 | OXSR1 | 1.03251296 |
| 35 | CDK3 | 1.02766949 |
| 36 | BLK | 0.98798111 |
| 37 | WNK1 | 0.98299270 |
| 38 | MAP3K4 | 0.97822163 |
| 39 | TLK1 | 0.96201635 |
| 40 | MAP2K7 | 0.96106424 |
| 41 | MUSK | 0.92415586 |
| 42 | LATS1 | 0.90345483 |
| 43 | PRKCG | 0.79872267 |
| 44 | PDK1 | 0.77643404 |
| 45 | PRKG1 | 0.76915484 |
| 46 | NTRK3 | 0.75220853 |
| 47 | EPHA4 | 0.69608588 |
| 48 | MAPK13 | 0.67504889 |
| 49 | MARK1 | 0.67354994 |
| 50 | BCKDK | 0.67251925 |
| 51 | TESK2 | 0.65875879 |
| 52 | PRKCE | 0.65674280 |
| 53 | TXK | 0.63638701 |
| 54 | PDPK1 | 0.63161077 |
| 55 | TRIM28 | 0.62288257 |
| 56 | NME1 | 0.59821852 |
| 57 | VRK1 | 0.59145351 |
| 58 | ACVR1B | 0.57190389 |
| 59 | BRSK2 | 0.56448161 |
| 60 | VRK2 | 0.55520569 |
| 61 | TAOK3 | 0.53261705 |
| 62 | CDC7 | 0.52934876 |
| 63 | PLK1 | 0.50046101 |
| 64 | PRKAA2 | 0.48976956 |
| 65 | PRKG2 | 0.46017899 |
| 66 | CAMK1 | 0.45735414 |
| 67 | PRKCQ | 0.44999211 |
| 68 | CDK7 | 0.43105734 |
| 69 | BRAF | 0.39379266 |
| 70 | CAMK2A | 0.38344371 |
| 71 | MAP3K9 | 0.37343235 |
| 72 | MARK3 | 0.36623732 |
| 73 | PAK3 | 0.34405440 |
| 74 | ADRBK1 | 0.33692007 |
| 75 | PRKACA | 0.33288292 |
| 76 | BRSK1 | 0.32629153 |
| 77 | CSNK1G2 | 0.31127913 |
| 78 | PLK3 | 0.30960214 |
| 79 | CDK2 | 0.29736732 |
| 80 | TEC | 0.29481766 |
| 81 | OBSCN | 0.28366035 |
| 82 | CSNK1A1 | 0.28196011 |
| 83 | CDK1 | 0.27840298 |
| 84 | CSNK1E | 0.27100615 |
| 85 | ROCK1 | 0.26221304 |
| 86 | CDK19 | 0.26090866 |
| 87 | LATS2 | 0.25662936 |
| 88 | MAPK1 | 0.25321111 |
| 89 | GSK3B | 0.25098265 |
| 90 | PIK3CA | 0.23378977 |
| 91 | RPS6KA5 | 0.23125040 |
| 92 | GRK7 | 0.22574286 |
| 93 | PRKACB | 0.22431390 |
| 94 | STK4 | 0.21804219 |
| 95 | PRKCZ | 0.21486432 |
| 96 | PDK2 | 0.21460713 |
| 97 | PRKCA | 0.20983818 |
| 98 | PRKCB | 0.20597831 |
| 99 | DYRK1B | 0.20162160 |
| 100 | SGK223 | 0.19490597 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 5.85585589 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 3.40942024 |
| 3 | Butanoate metabolism_Homo sapiens_hsa00650 | 3.05478956 |
| 4 | Olfactory transduction_Homo sapiens_hsa04740 | 2.96317072 |
| 5 | Phototransduction_Homo sapiens_hsa04744 | 2.61484991 |
| 6 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 2.00254596 |
| 7 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.89679333 |
| 8 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 1.87553282 |
| 9 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.86439783 |
| 10 | Taste transduction_Homo sapiens_hsa04742 | 1.84943276 |
| 11 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.82702393 |
| 12 | Basal transcription factors_Homo sapiens_hsa03022 | 1.78629273 |
| 13 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.76119611 |
| 14 | RNA transport_Homo sapiens_hsa03013 | 1.67044722 |
| 15 | Nicotine addiction_Homo sapiens_hsa05033 | 1.64927509 |
| 16 | Huntingtons disease_Homo sapiens_hsa05016 | 1.58695654 |
| 17 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.57188442 |
| 18 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.54037580 |
| 19 | Parkinsons disease_Homo sapiens_hsa05012 | 1.53198763 |
| 20 | Retinol metabolism_Homo sapiens_hsa00830 | 1.51337333 |
| 21 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.51035226 |
| 22 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.50883282 |
| 23 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.48629465 |
| 24 | RNA polymerase_Homo sapiens_hsa03020 | 1.47320897 |
| 25 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.43358057 |
| 26 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.34529937 |
| 27 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 1.29470398 |
| 28 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.29251150 |
| 29 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.27474314 |
| 30 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.26805499 |
| 31 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.21965843 |
| 32 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 1.20790375 |
| 33 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.19707030 |
| 34 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.15651776 |
| 35 | Morphine addiction_Homo sapiens_hsa05032 | 1.15575081 |
| 36 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.13498522 |
| 37 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.12084497 |
| 38 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.05924450 |
| 39 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.05066825 |
| 40 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.04715236 |
| 41 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.03222739 |
| 42 | Purine metabolism_Homo sapiens_hsa00230 | 0.99349027 |
| 43 | ABC transporters_Homo sapiens_hsa02010 | 0.98030954 |
| 44 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.96617763 |
| 45 | GABAergic synapse_Homo sapiens_hsa04727 | 0.95869795 |
| 46 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.93637598 |
| 47 | Alzheimers disease_Homo sapiens_hsa05010 | 0.92255150 |
| 48 | Homologous recombination_Homo sapiens_hsa03440 | 0.92238625 |
| 49 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.91895362 |
| 50 | Insulin secretion_Homo sapiens_hsa04911 | 0.88581582 |
| 51 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.86247414 |
| 52 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.85835260 |
| 53 | Circadian entrainment_Homo sapiens_hsa04713 | 0.85465429 |
| 54 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.85231673 |
| 55 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.82381939 |
| 56 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.80558878 |
| 57 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.78269373 |
| 58 | Peroxisome_Homo sapiens_hsa04146 | 0.77050054 |
| 59 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.73047910 |
| 60 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.72378110 |
| 61 | Metabolic pathways_Homo sapiens_hsa01100 | 0.72314375 |
| 62 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.71089218 |
| 63 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.69206178 |
| 64 | Sulfur relay system_Homo sapiens_hsa04122 | 0.68971250 |
| 65 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.68459990 |
| 66 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.68083419 |
| 67 | Salivary secretion_Homo sapiens_hsa04970 | 0.67556749 |
| 68 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.63215441 |
| 69 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.61304539 |
| 70 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.60988230 |
| 71 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.59122297 |
| 72 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.57170321 |
| 73 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.56681025 |
| 74 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.56675048 |
| 75 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.56124061 |
| 76 | Protein export_Homo sapiens_hsa03060 | 0.55954558 |
| 77 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.54261527 |
| 78 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.54259709 |
| 79 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.53265414 |
| 80 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.53031157 |
| 81 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.52820076 |
| 82 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.51341241 |
| 83 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.51290320 |
| 84 | RNA degradation_Homo sapiens_hsa03018 | 0.51223636 |
| 85 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.50327848 |
| 86 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.47817362 |
| 87 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.42565173 |
| 88 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.42295119 |
| 89 | Ribosome_Homo sapiens_hsa03010 | 0.39805428 |
| 90 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.38855280 |
| 91 | Bile secretion_Homo sapiens_hsa04976 | 0.38581515 |
| 92 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.35601634 |
| 93 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.34458304 |
| 94 | Mineral absorption_Homo sapiens_hsa04978 | 0.33137343 |
| 95 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.32527818 |
| 96 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.32014224 |
| 97 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.31671817 |
| 98 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.29545900 |
| 99 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.28690698 |
| 100 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.28660506 |

