

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | fusion of sperm to egg plasma membrane (GO:0007342) | 9.05493257 |
| 2 | microtubule depolymerization (GO:0007019) | 8.30622458 |
| 3 | sperm capacitation (GO:0048240) | 8.25181757 |
| 4 | chromosome condensation (GO:0030261) | 8.15321998 |
| 5 | DNA packaging (GO:0006323) | 8.11894354 |
| 6 | single strand break repair (GO:0000012) | 7.86386064 |
| 7 | spermatid development (GO:0007286) | 7.80920154 |
| 8 | protein polyglutamylation (GO:0018095) | 7.40995512 |
| 9 | protein targeting to Golgi (GO:0000042) | 7.32875317 |
| 10 | microtubule polymerization or depolymerization (GO:0031109) | 7.27236413 |
| 11 | establishment of protein localization to Golgi (GO:0072600) | 7.16922968 |
| 12 | spermatid nucleus differentiation (GO:0007289) | 6.98053874 |
| 13 | plasma membrane fusion (GO:0045026) | 6.87775226 |
| 14 | rRNA methylation (GO:0031167) | 6.74074103 |
| 15 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 6.73195542 |
| 16 | regulation of cilium movement (GO:0003352) | 6.71177227 |
| 17 | sperm-egg recognition (GO:0035036) | 6.53726211 |
| 18 | negative regulation of inclusion body assembly (GO:0090084) | 6.51862719 |
| 19 | centriole replication (GO:0007099) | 6.41467077 |
| 20 | response to pheromone (GO:0019236) | 6.28969391 |
| 21 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.13356716 |
| 22 | multicellular organism reproduction (GO:0032504) | 6.07836111 |
| 23 | spermatogenesis (GO:0007283) | 6.03361870 |
| 24 | male gamete generation (GO:0048232) | 6.01677997 |
| 25 | binding of sperm to zona pellucida (GO:0007339) | 5.93329353 |
| 26 | axonemal dynein complex assembly (GO:0070286) | 5.93165521 |
| 27 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.78330467 |
| 28 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.70334648 |
| 29 | regulation of centriole replication (GO:0046599) | 5.68915159 |
| 30 | microtubule severing (GO:0051013) | 5.67191628 |
| 31 | reproduction (GO:0000003) | 5.58688656 |
| 32 | gamete generation (GO:0007276) | 5.57573974 |
| 33 | centriole assembly (GO:0098534) | 5.52265909 |
| 34 | rRNA modification (GO:0000154) | 5.51968000 |
| 35 | calcium ion-dependent exocytosis (GO:0017156) | 5.37877686 |
| 36 | seminiferous tubule development (GO:0072520) | 5.35435021 |
| 37 | protein localization to Golgi apparatus (GO:0034067) | 5.34259325 |
| 38 | cell-cell recognition (GO:0009988) | 5.30023486 |
| 39 | epithelial cilium movement (GO:0003351) | 5.08657927 |
| 40 | sexual reproduction (GO:0019953) | 5.07778549 |
| 41 | RNA destabilization (GO:0050779) | 4.96679747 |
| 42 | motile cilium assembly (GO:0044458) | 4.91409866 |
| 43 | germ cell development (GO:0007281) | 4.60592334 |
| 44 | single fertilization (GO:0007338) | 4.60305868 |
| 45 | cilium movement (GO:0003341) | 4.58671535 |
| 46 | piRNA metabolic process (GO:0034587) | 4.55081144 |
| 47 | regulation of inclusion body assembly (GO:0090083) | 4.53000226 |
| 48 | regulation of microtubule-based movement (GO:0060632) | 4.52333105 |
| 49 | multicellular organismal reproductive process (GO:0048609) | 4.43203165 |
| 50 | fertilization (GO:0009566) | 4.42007861 |
| 51 | cellular ketone body metabolic process (GO:0046950) | 4.35928885 |
| 52 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.32943841 |
| 53 | nucleus organization (GO:0006997) | 4.21643417 |
| 54 | DNA methylation involved in gamete generation (GO:0043046) | 4.16163895 |
| 55 | positive regulation of Rab GTPase activity (GO:0032851) | 4.06649168 |
| 56 | regulation of Rab GTPase activity (GO:0032313) | 4.06649168 |
| 57 | cell wall macromolecule catabolic process (GO:0016998) | 4.02011027 |
| 58 | ketone body metabolic process (GO:1902224) | 3.89162994 |
| 59 | microtubule nucleation (GO:0007020) | 3.82242210 |
| 60 | cell wall macromolecule metabolic process (GO:0044036) | 3.80365576 |
| 61 | male meiosis (GO:0007140) | 3.80059163 |
| 62 | male meiosis I (GO:0007141) | 3.79337732 |
| 63 | nuclear pore complex assembly (GO:0051292) | 3.77010512 |
| 64 | axoneme assembly (GO:0035082) | 3.66009601 |
| 65 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.53549955 |
| 66 | chromatin silencing (GO:0006342) | 3.40939462 |
| 67 | glomerular visceral epithelial cell development (GO:0072015) | 3.34859196 |
| 68 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.31703312 |
| 69 | musculoskeletal movement (GO:0050881) | 3.28043399 |
| 70 | multicellular organismal movement (GO:0050879) | 3.28043399 |
| 71 | glomerular epithelial cell development (GO:0072310) | 3.16065469 |
| 72 | organic cation transport (GO:0015695) | 3.15821056 |
| 73 | negative regulation of mesenchymal cell apoptotic process (GO:2001054) | 3.15347518 |
| 74 | ventricular system development (GO:0021591) | 3.11566462 |
| 75 | mitochondrial fission (GO:0000266) | 3.08429397 |
| 76 | nucleosome disassembly (GO:0006337) | 3.02942376 |
| 77 | protein-DNA complex disassembly (GO:0032986) | 3.02942376 |
| 78 | histone exchange (GO:0043486) | 2.99943671 |
| 79 | microtubule bundle formation (GO:0001578) | 2.99563128 |
| 80 | cerebral cortex neuron differentiation (GO:0021895) | 2.96846901 |
| 81 | multicellular organismal development (GO:0007275) | 2.96556730 |
| 82 | RNA localization (GO:0006403) | 2.96531877 |
| 83 | cilium organization (GO:0044782) | 2.96238906 |
| 84 | intra-Golgi vesicle-mediated transport (GO:0006891) | 2.95257818 |
| 85 | protein depolymerization (GO:0051261) | 2.94738456 |
| 86 | meiosis I (GO:0007127) | 2.94396102 |
| 87 | centrosome duplication (GO:0051298) | 2.93707582 |
| 88 | glycerol ether metabolic process (GO:0006662) | 2.92739272 |
| 89 | cilium assembly (GO:0042384) | 2.92166222 |
| 90 | regulation of meiosis I (GO:0060631) | 2.90555587 |
| 91 | chromosome organization involved in meiosis (GO:0070192) | 2.87306023 |
| 92 | Golgi to endosome transport (GO:0006895) | 2.86088840 |
| 93 | nuclear pore organization (GO:0006999) | 2.85626554 |
| 94 | genitalia morphogenesis (GO:0035112) | 2.83567781 |
| 95 | DNA conformation change (GO:0071103) | 2.83467688 |
| 96 | homeostasis of number of cells within a tissue (GO:0048873) | 2.82549645 |
| 97 | synaptonemal complex assembly (GO:0007130) | 2.81381897 |
| 98 | polyamine biosynthetic process (GO:0006596) | 2.81016179 |
| 99 | sperm motility (GO:0030317) | 11.2601689 |
| 100 | acrosome reaction (GO:0007340) | 10.3299895 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.57806900 |
| 2 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 3.11082253 |
| 3 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 3.02489768 |
| 4 | FUS_26573619_Chip-Seq_HEK293_Human | 2.81763634 |
| 5 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 2.74156195 |
| 6 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.54056344 |
| 7 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.54056344 |
| 8 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.53248943 |
| 9 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.53248943 |
| 10 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.52246403 |
| 11 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.51191934 |
| 12 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.44725883 |
| 13 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.19192916 |
| 14 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.14951475 |
| 15 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.13732422 |
| 16 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.10906274 |
| 17 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.10218427 |
| 18 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 2.03160952 |
| 19 | P300_19829295_ChIP-Seq_ESCs_Human | 1.99883682 |
| 20 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.97006892 |
| 21 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.96522909 |
| 22 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.89645432 |
| 23 | VDR_22108803_ChIP-Seq_LS180_Human | 1.74876932 |
| 24 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.73343015 |
| 25 | AR_25329375_ChIP-Seq_VCAP_Human | 1.72430594 |
| 26 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.67555186 |
| 27 | STAT3_23295773_ChIP-Seq_U87_Human | 1.67448778 |
| 28 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.66419221 |
| 29 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.64216850 |
| 30 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.63541571 |
| 31 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.62327872 |
| 32 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.60668612 |
| 33 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.60060279 |
| 34 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.55184986 |
| 35 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.53848636 |
| 36 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.50957955 |
| 37 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.49973879 |
| 38 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.48785071 |
| 39 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.47386702 |
| 40 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.47333995 |
| 41 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.46890585 |
| 42 | * ERA_21632823_ChIP-Seq_H3396_Human | 1.46185887 |
| 43 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.43239163 |
| 44 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.41945138 |
| 45 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.41810434 |
| 46 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.41203671 |
| 47 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.41017184 |
| 48 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.39917959 |
| 49 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.39767755 |
| 50 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.38863273 |
| 51 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.36736092 |
| 52 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.36736092 |
| 53 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.35181201 |
| 54 | * NANOG_20526341_ChIP-Seq_ESCs_Human | 1.34967616 |
| 55 | TBL1_22424771_ChIP-Seq_293T_Human | 1.34680324 |
| 56 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.33482262 |
| 57 | NFYB_21822215_ChIP-Seq_K562_Human | 1.33304908 |
| 58 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.32883799 |
| 59 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.32664858 |
| 60 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.26814378 |
| 61 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.26761732 |
| 62 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.25112575 |
| 63 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.24720772 |
| 64 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.23138521 |
| 65 | * RAC3_21632823_ChIP-Seq_H3396_Human | 1.22443371 |
| 66 | TCF4_23295773_ChIP-Seq_U87_Human | 1.22325458 |
| 67 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.21955187 |
| 68 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.21954303 |
| 69 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.21034984 |
| 70 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.19893034 |
| 71 | * TAF2_19829295_ChIP-Seq_ESCs_Human | 1.18414423 |
| 72 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.18214064 |
| 73 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 1.17757324 |
| 74 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.17539979 |
| 75 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.15137115 |
| 76 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.14745111 |
| 77 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.14678969 |
| 78 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.14272976 |
| 79 | NFYA_21822215_ChIP-Seq_K562_Human | 1.14123566 |
| 80 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.13886809 |
| 81 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.12486806 |
| 82 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.10497540 |
| 83 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.08852806 |
| 84 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.08048017 |
| 85 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.05537515 |
| 86 | SALL4_22934838_ChIP-ChIP_CD34+_Human | 1.05187676 |
| 87 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.04415869 |
| 88 | KDM2B_26808549_Chip-Seq_REH_Human | 1.04079377 |
| 89 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.03220825 |
| 90 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.02350864 |
| 91 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.02350864 |
| 92 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.02335008 |
| 93 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.01906519 |
| 94 | CJUN_26792858_Chip-Seq_BT549_Human | 1.00982067 |
| 95 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.00939008 |
| 96 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.00884103 |
| 97 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.00177889 |
| 98 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 0.99110758 |
| 99 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 0.99013163 |
| 100 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 0.98762788 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 4.45694487 |
| 2 | MP0003878_abnormal_ear_physiology | 4.36445495 |
| 3 | MP0005377_hearing/vestibular/ear_phenot | 4.36445495 |
| 4 | MP0001929_abnormal_gametogenesis | 4.18987992 |
| 5 | MP0005670_abnormal_white_adipose | 3.96032555 |
| 6 | MP0008877_abnormal_DNA_methylation | 2.88842279 |
| 7 | MP0003646_muscle_fatigue | 2.79553592 |
| 8 | MP0003718_maternal_effect | 2.60072009 |
| 9 | MP0002161_abnormal_fertility/fecundity | 2.48855212 |
| 10 | MP0002210_abnormal_sex_determination | 2.35174276 |
| 11 | MP0001348_abnormal_lacrimal_gland | 2.03512310 |
| 12 | MP0005410_abnormal_fertilization | 10.8098609 |
| 13 | MP0001145_abnormal_male_reproductive | 1.87341760 |
| 14 | MP0001485_abnormal_pinna_reflex | 1.82956922 |
| 15 | MP0000653_abnormal_sex_gland | 1.82130819 |
| 16 | MP0001486_abnormal_startle_reflex | 1.76866892 |
| 17 | MP0002282_abnormal_trachea_morphology | 1.67960992 |
| 18 | MP0002132_abnormal_respiratory_system | 1.65139809 |
| 19 | MP0005551_abnormal_eye_electrophysiolog | 1.57999547 |
| 20 | MP0005253_abnormal_eye_physiology | 1.52735957 |
| 21 | MP0003011_delayed_dark_adaptation | 1.50976954 |
| 22 | MP0005379_endocrine/exocrine_gland_phen | 1.49722723 |
| 23 | MP0005423_abnormal_somatic_nervous | 1.40896529 |
| 24 | MP0005310_abnormal_salivary_gland | 1.40562853 |
| 25 | MP0008789_abnormal_olfactory_epithelium | 1.36896577 |
| 26 | MP0008995_early_reproductive_senescence | 1.31347585 |
| 27 | MP0005395_other_phenotype | 1.30227876 |
| 28 | MP0000534_abnormal_ureter_morphology | 1.24773536 |
| 29 | MP0002735_abnormal_chemical_nociception | 1.23938850 |
| 30 | MP0002234_abnormal_pharynx_morphology | 1.23061163 |
| 31 | MP0001963_abnormal_hearing_physiology | 1.18619771 |
| 32 | MP0002127_abnormal_cardiovascular_syste | 1.17026984 |
| 33 | MP0009053_abnormal_anal_canal | 1.15641809 |
| 34 | MP0005248_abnormal_Harderian_gland | 1.14077243 |
| 35 | MP0004742_abnormal_vestibular_system | 1.13705784 |
| 36 | MP0000516_abnormal_urinary_system | 1.09916125 |
| 37 | MP0005367_renal/urinary_system_phenotyp | 1.09916125 |
| 38 | MP0005451_abnormal_body_composition | 1.09873857 |
| 39 | MP0000678_abnormal_parathyroid_gland | 1.07573301 |
| 40 | MP0002928_abnormal_bile_duct | 1.05708045 |
| 41 | MP0001968_abnormal_touch/_nociception | 1.03667057 |
| 42 | MP0002138_abnormal_hepatobiliary_system | 1.03107099 |
| 43 | MP0006292_abnormal_olfactory_placode | 1.00921239 |
| 44 | MP0001984_abnormal_olfaction | 0.98280110 |
| 45 | MP0000026_abnormal_inner_ear | 0.98032786 |
| 46 | MP0003077_abnormal_cell_cycle | 0.94573787 |
| 47 | MP0003787_abnormal_imprinting | 0.92737116 |
| 48 | MP0008058_abnormal_DNA_repair | 0.92473956 |
| 49 | MP0002229_neurodegeneration | 0.91815360 |
| 50 | MP0000955_abnormal_spinal_cord | 0.89344300 |
| 51 | MP0005394_taste/olfaction_phenotype | 0.88749515 |
| 52 | MP0005499_abnormal_olfactory_system | 0.88749515 |
| 53 | MP0002249_abnormal_larynx_morphology | 0.88603094 |
| 54 | MP0009697_abnormal_copulation | 0.86695728 |
| 55 | MP0009115_abnormal_fat_cell | 0.86404181 |
| 56 | MP0000049_abnormal_middle_ear | 0.86196581 |
| 57 | MP0001270_distended_abdomen | 0.83549445 |
| 58 | MP0002822_catalepsy | 0.82648477 |
| 59 | MP0005083_abnormal_biliary_tract | 0.81016913 |
| 60 | MP0005084_abnormal_gallbladder_morpholo | 0.79044715 |
| 61 | MP0002557_abnormal_social/conspecific_i | 0.77541651 |
| 62 | MP0005391_vision/eye_phenotype | 0.75968855 |
| 63 | MP0010329_abnormal_lipoprotein_level | 0.74084027 |
| 64 | MP0001765_abnormal_ion_homeostasis | 0.73846027 |
| 65 | MP0001666_abnormal_nutrient_absorption | 0.69265203 |
| 66 | MP0002067_abnormal_sensory_capabilities | 0.68239219 |
| 67 | MP0010386_abnormal_urinary_bladder | 0.67775619 |
| 68 | MP0003880_abnormal_central_pattern | 0.67459032 |
| 69 | MP0003136_yellow_coat_color | 0.64855194 |
| 70 | MP0003879_abnormal_hair_cell | 0.64016331 |
| 71 | MP0004085_abnormal_heartbeat | 0.62661714 |
| 72 | MP0000613_abnormal_salivary_gland | 0.58177869 |
| 73 | MP0001119_abnormal_female_reproductive | 0.57217141 |
| 74 | MP0006276_abnormal_autonomic_nervous | 0.55693584 |
| 75 | MP0003699_abnormal_female_reproductive | 0.55647539 |
| 76 | MP0003119_abnormal_digestive_system | 0.54937649 |
| 77 | MP0010094_abnormal_chromosome_stability | 0.53174483 |
| 78 | MP0004957_abnormal_blastocyst_morpholog | 0.52474686 |
| 79 | MP0008569_lethality_at_weaning | 0.52101868 |
| 80 | MP0003950_abnormal_plasma_membrane | 0.51588082 |
| 81 | MP0003861_abnormal_nervous_system | 0.50954839 |
| 82 | MP0004859_abnormal_synaptic_plasticity | 0.48759927 |
| 83 | MP0003385_abnormal_body_wall | 0.48733054 |
| 84 | MP0002168_other_aberrant_phenotype | 0.48664070 |
| 85 | MP0005666_abnormal_adipose_tissue | 0.46066601 |
| 86 | MP0002572_abnormal_emotion/affect_behav | 0.46063483 |
| 87 | MP0004036_abnormal_muscle_relaxation | 0.45055014 |
| 88 | MP0004043_abnormal_pH_regulation | 0.44276492 |
| 89 | MP0005195_abnormal_posterior_eye | 0.43839749 |
| 90 | MP0009745_abnormal_behavioral_response | 0.43705133 |
| 91 | MP0002752_abnormal_somatic_nervous | 0.43460409 |
| 92 | MP0002272_abnormal_nervous_system | 0.43393029 |
| 93 | MP0004484_altered_response_of | 0.42308128 |
| 94 | MP0005623_abnormal_meninges_morphology | 0.42114622 |
| 95 | MP0005636_abnormal_mineral_homeostasis | 0.41587217 |
| 96 | MP0002734_abnormal_mechanical_nocicepti | 0.41412747 |
| 97 | MP0003935_abnormal_craniofacial_develop | 0.41340184 |
| 98 | MP0001299_abnormal_eye_distance/ | 0.39910084 |
| 99 | MP0000778_abnormal_nervous_system | 0.38967398 |
| 100 | MP0003755_abnormal_palate_morphology | 0.38902818 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Tubulointerstitial nephritis (HP:0001970) | 7.47581903 |
| 2 | Chronic hepatic failure (HP:0100626) | 7.13483358 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 6.06573698 |
| 4 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.06573698 |
| 5 | Severe visual impairment (HP:0001141) | 5.74171272 |
| 6 | Abnormal ciliary motility (HP:0012262) | 4.64969454 |
| 7 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.47093945 |
| 8 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.44517400 |
| 9 | Hypoalphalipoproteinemia (HP:0003233) | 4.28475398 |
| 10 | Male infertility (HP:0003251) | 4.24867427 |
| 11 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.23376745 |
| 12 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.22705367 |
| 13 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.22705367 |
| 14 | Cone-rod dystrophy (HP:0000548) | 4.13550578 |
| 15 | Attenuation of retinal blood vessels (HP:0007843) | 4.01900423 |
| 16 | Hyperkalemia (HP:0002153) | 3.79418175 |
| 17 | Asymmetric septal hypertrophy (HP:0001670) | 3.68980444 |
| 18 | Nephronophthisis (HP:0000090) | 3.52874403 |
| 19 | Abnormality of macular pigmentation (HP:0008002) | 3.51403957 |
| 20 | Infertility (HP:0000789) | 3.48277861 |
| 21 | Tubulointerstitial abnormality (HP:0001969) | 3.47838990 |
| 22 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.38270616 |
| 23 | Truncal obesity (HP:0001956) | 3.36993403 |
| 24 | Hypoplasia of the thymus (HP:0000778) | 3.28252157 |
| 25 | Nasal polyposis (HP:0100582) | 3.24825955 |
| 26 | Resting tremor (HP:0002322) | 3.21247296 |
| 27 | Bell-shaped thorax (HP:0001591) | 3.19621559 |
| 28 | Menstrual irregularities (HP:0000858) | 3.17283675 |
| 29 | Abnormality of the renal medulla (HP:0100957) | 3.13718660 |
| 30 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.12509754 |
| 31 | Stage 5 chronic kidney disease (HP:0003774) | 3.07317948 |
| 32 | Abnormal spermatogenesis (HP:0008669) | 3.03624512 |
| 33 | Azoospermia (HP:0000027) | 2.99285255 |
| 34 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 2.97836124 |
| 35 | Progressive sensorineural hearing impairment (HP:0000408) | 2.97674624 |
| 36 | Impulsivity (HP:0100710) | 2.92088135 |
| 37 | Rhinitis (HP:0012384) | 2.84323660 |
| 38 | Potter facies (HP:0002009) | 2.73639583 |
| 39 | Facial shape deformation (HP:0011334) | 2.73639583 |
| 40 | Portal hypertension (HP:0001409) | 2.66493428 |
| 41 | Volvulus (HP:0002580) | 2.63214766 |
| 42 | Progressive cerebellar ataxia (HP:0002073) | 2.61161062 |
| 43 | Intellectual disability, moderate (HP:0002342) | 2.58211744 |
| 44 | Renovascular hypertension (HP:0100817) | 2.50841592 |
| 45 | True hermaphroditism (HP:0010459) | 2.49748112 |
| 46 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.49020003 |
| 47 | Abnormality of the hepatic vasculature (HP:0006707) | 2.46037524 |
| 48 | Postural instability (HP:0002172) | 2.44812817 |
| 49 | Hypolipoproteinemia (HP:0010981) | 2.44592838 |
| 50 | Abnormality of the nasal mucosa (HP:0000433) | 2.44491329 |
| 51 | Hypoplastic ischia (HP:0003175) | 2.43665541 |
| 52 | Abnormality of the ischium (HP:0003174) | 2.43644362 |
| 53 | Amelogenesis imperfecta (HP:0000705) | 2.38139629 |
| 54 | Hyperuricemia (HP:0002149) | 2.37726240 |
| 55 | Increased purine levels (HP:0004368) | 2.37726240 |
| 56 | Occipital encephalocele (HP:0002085) | 2.34848868 |
| 57 | Abnormality of dental color (HP:0011073) | 2.30055038 |
| 58 | Enlarged epiphyses (HP:0010580) | 2.26380059 |
| 59 | Pancreatic fibrosis (HP:0100732) | 2.20346523 |
| 60 | Chronic bronchitis (HP:0004469) | 2.16897794 |
| 61 | Tubular atrophy (HP:0000092) | 2.16787787 |
| 62 | Abnormal urine output (HP:0012590) | 2.16611094 |
| 63 | Osteomalacia (HP:0002749) | 2.14767319 |
| 64 | Abnormal drinking behavior (HP:0030082) | 2.09353788 |
| 65 | Polydipsia (HP:0001959) | 2.09353788 |
| 66 | Bronchiectasis (HP:0002110) | 2.08593487 |
| 67 | Abnormality of potassium homeostasis (HP:0011042) | 2.00591260 |
| 68 | Optic nerve hypoplasia (HP:0000609) | 1.96908215 |
| 69 | Pancreatic cysts (HP:0001737) | 1.91957884 |
| 70 | Subcapsular cataract (HP:0000523) | 1.90576368 |
| 71 | Abnormality of renal excretion (HP:0011036) | 1.89385543 |
| 72 | Obsessive-compulsive behavior (HP:0000722) | 1.89361266 |
| 73 | Decreased central vision (HP:0007663) | 1.87086917 |
| 74 | Renal dysplasia (HP:0000110) | 1.84606063 |
| 75 | Progressive hearing impairment (HP:0001730) | 1.83534450 |
| 76 | Polyuria (HP:0000103) | 1.82441762 |
| 77 | Focal segmental glomerulosclerosis (HP:0000097) | 1.77103990 |
| 78 | Hypophosphatemic rickets (HP:0004912) | 1.76914440 |
| 79 | Sandal gap (HP:0001852) | 1.76516151 |
| 80 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 1.74805953 |
| 81 | Abnormality of the level of lipoprotein cholesterol (HP:0010979) | 1.72741780 |
| 82 | Horizontal nystagmus (HP:0000666) | 1.71007955 |
| 83 | Generalized aminoaciduria (HP:0002909) | 1.70603654 |
| 84 | Abnormality of the renal cortex (HP:0011035) | 1.70484054 |
| 85 | Median cleft lip (HP:0000161) | 1.69001035 |
| 86 | Molar tooth sign on MRI (HP:0002419) | 1.68495837 |
| 87 | Abnormality of midbrain morphology (HP:0002418) | 1.68495837 |
| 88 | Abnormality of the costochondral junction (HP:0000919) | 1.68086453 |
| 89 | Photophobia (HP:0000613) | 1.67200406 |
| 90 | Sex reversal (HP:0012245) | 1.67150686 |
| 91 | Abnormal sex determination (HP:0012244) | 1.67150686 |
| 92 | Gonadal dysgenesis (HP:0000133) | 1.66030563 |
| 93 | Abnormal ventriculo-arterial connection (HP:0011563) | 1.65088691 |
| 94 | Transposition of the great arteries (HP:0001669) | 1.65088691 |
| 95 | Abnormal connection of the cardiac segments (HP:0011545) | 1.65088691 |
| 96 | Small intestinal stenosis (HP:0012848) | 1.64332159 |
| 97 | Duodenal stenosis (HP:0100867) | 1.64332159 |
| 98 | Congenital sensorineural hearing impairment (HP:0008527) | 1.64289463 |
| 99 | Renal Fanconi syndrome (HP:0001994) | 1.63268728 |
| 100 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.63199791 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 8.45734935 |
| 2 | BRD4 | 4.44099826 |
| 3 | PNCK | 3.92351767 |
| 4 | INSRR | 3.36469006 |
| 5 | PLK2 | 3.35579492 |
| 6 | TESK1 | 3.00582502 |
| 7 | STK38 | 2.67008527 |
| 8 | STK38L | 2.54279563 |
| 9 | MAP4K2 | 2.53956421 |
| 10 | DDR2 | 2.44521354 |
| 11 | CAMK1G | 2.42980066 |
| 12 | MAPK15 | 2.24511125 |
| 13 | PRKD3 | 2.06947628 |
| 14 | BMPR1B | 1.89852713 |
| 15 | AKT3 | 1.74291362 |
| 16 | WNK3 | 1.71345623 |
| 17 | PIK3CG | 1.68699062 |
| 18 | LMTK2 | 1.67514230 |
| 19 | NEK6 | 1.57256633 |
| 20 | STK39 | 1.52854261 |
| 21 | ACVR1B | 1.44012761 |
| 22 | BRSK2 | 1.43973226 |
| 23 | FRK | 1.22525575 |
| 24 | DYRK1B | 1.16457924 |
| 25 | PINK1 | 0.99881741 |
| 26 | TNIK | 0.99221400 |
| 27 | PTK2B | 0.98911389 |
| 28 | PDK1 | 0.96021257 |
| 29 | WNK1 | 0.94158308 |
| 30 | MARK1 | 0.92755490 |
| 31 | TYRO3 | 0.90181866 |
| 32 | MKNK2 | 0.87632407 |
| 33 | PDPK1 | 0.84210045 |
| 34 | MUSK | 0.83610862 |
| 35 | CAMK1D | 0.81533644 |
| 36 | WNK4 | 0.81436930 |
| 37 | MST1R | 0.81270821 |
| 38 | OXSR1 | 0.80875292 |
| 39 | MAP3K4 | 0.78178824 |
| 40 | CDK12 | 0.73717565 |
| 41 | BRSK1 | 0.73013540 |
| 42 | CDK7 | 0.70457810 |
| 43 | NTRK2 | 0.67827541 |
| 44 | CASK | 0.66082964 |
| 45 | CDK3 | 0.64590647 |
| 46 | PDK2 | 0.63927409 |
| 47 | TIE1 | 0.63784096 |
| 48 | PBK | 0.61967091 |
| 49 | PRKG1 | 0.60034589 |
| 50 | ROCK1 | 0.59971394 |
| 51 | DYRK3 | 0.58991185 |
| 52 | SGK223 | 0.58703322 |
| 53 | SGK494 | 0.58703322 |
| 54 | PKN1 | 0.56901068 |
| 55 | CCNB1 | 0.55530580 |
| 56 | MAPK13 | 0.55306225 |
| 57 | PLK1 | 0.52062960 |
| 58 | KSR2 | 0.51867830 |
| 59 | PRKG2 | 0.51860931 |
| 60 | NTRK3 | 0.50948234 |
| 61 | NUAK1 | 0.50152091 |
| 62 | SGK2 | 0.46666930 |
| 63 | MARK3 | 0.46270472 |
| 64 | CHEK1 | 0.44429337 |
| 65 | CDK1 | 0.44286639 |
| 66 | BRAF | 0.43810427 |
| 67 | TGFBR1 | 0.43791273 |
| 68 | CDK2 | 0.43568526 |
| 69 | SIK2 | 0.42302287 |
| 70 | CAMK1 | 0.42130025 |
| 71 | SGK1 | 0.40729543 |
| 72 | WEE1 | 0.40497114 |
| 73 | GSK3B | 0.38818550 |
| 74 | EIF2AK3 | 0.38382811 |
| 75 | MAP3K2 | 0.37699820 |
| 76 | PRKAA2 | 0.35723106 |
| 77 | NEK2 | 0.34809956 |
| 78 | RIPK1 | 0.34544520 |
| 79 | PLK3 | 0.34528706 |
| 80 | RPS6KA1 | 0.34514426 |
| 81 | MAPK1 | 0.34111601 |
| 82 | LATS1 | 0.32995758 |
| 83 | MINK1 | 0.30485707 |
| 84 | PRKCE | 0.30415976 |
| 85 | MAP2K7 | 0.30344444 |
| 86 | TSSK6 | 0.29493005 |
| 87 | ATM | 0.29473169 |
| 88 | TTK | 0.28965844 |
| 89 | MKNK1 | 0.28420054 |
| 90 | MAP3K8 | 0.27367432 |
| 91 | DYRK1A | 0.26415184 |
| 92 | PRKCG | 0.26131385 |
| 93 | ZAK | 0.25235243 |
| 94 | MAPK8 | 0.24841134 |
| 95 | MAPK14 | 0.24135807 |
| 96 | RPS6KA2 | 0.23452738 |
| 97 | VRK1 | 0.21687936 |
| 98 | UHMK1 | 0.20993618 |
| 99 | PRKCB | 0.20795850 |
| 100 | CAMK4 | 0.18824828 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 7.00058360 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 6.30017375 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.24201493 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 3.09439077 |
| 5 | Fatty acid degradation_Homo sapiens_hsa00071 | 2.31425460 |
| 6 | RNA transport_Homo sapiens_hsa03013 | 2.21944503 |
| 7 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 2.21593795 |
| 8 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 2.15980981 |
| 9 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.87972649 |
| 10 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.81530028 |
| 11 | ABC transporters_Homo sapiens_hsa02010 | 1.67406830 |
| 12 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.65215632 |
| 13 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.65144246 |
| 14 | Phototransduction_Homo sapiens_hsa04744 | 1.49231705 |
| 15 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.48072488 |
| 16 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.45161809 |
| 17 | Taste transduction_Homo sapiens_hsa04742 | 1.44071629 |
| 18 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.33261877 |
| 19 | Circadian rhythm_Homo sapiens_hsa04710 | 1.31574527 |
| 20 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.25659252 |
| 21 | Basal transcription factors_Homo sapiens_hsa03022 | 1.24668975 |
| 22 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.15351191 |
| 23 | Lysine degradation_Homo sapiens_hsa00310 | 1.13045307 |
| 24 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.10155269 |
| 25 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.06854768 |
| 26 | Retinol metabolism_Homo sapiens_hsa00830 | 1.05560552 |
| 27 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.05253651 |
| 28 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.03157408 |
| 29 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.02869038 |
| 30 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.01668118 |
| 31 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.01312073 |
| 32 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.00660497 |
| 33 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.91656486 |
| 34 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.87026063 |
| 35 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.87011272 |
| 36 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.82482667 |
| 37 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.82370417 |
| 38 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.82139660 |
| 39 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.79031597 |
| 40 | Homologous recombination_Homo sapiens_hsa03440 | 0.77344468 |
| 41 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.75722569 |
| 42 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.75675655 |
| 43 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.75387973 |
| 44 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.74146636 |
| 45 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.72926273 |
| 46 | Salivary secretion_Homo sapiens_hsa04970 | 0.70778395 |
| 47 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.70390561 |
| 48 | Peroxisome_Homo sapiens_hsa04146 | 0.68841979 |
| 49 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.68718744 |
| 50 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.67179941 |
| 51 | Nicotine addiction_Homo sapiens_hsa05033 | 0.66650407 |
| 52 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.66093815 |
| 53 | Morphine addiction_Homo sapiens_hsa05032 | 0.61829978 |
| 54 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.60064731 |
| 55 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.59956529 |
| 56 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.56718851 |
| 57 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.55259827 |
| 58 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.53963100 |
| 59 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.53885319 |
| 60 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.53716847 |
| 61 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.53475193 |
| 62 | Tight junction_Homo sapiens_hsa04530 | 0.53201102 |
| 63 | Circadian entrainment_Homo sapiens_hsa04713 | 0.53181336 |
| 64 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.52622098 |
| 65 | Endocytosis_Homo sapiens_hsa04144 | 0.51762890 |
| 66 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.48855555 |
| 67 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.48526382 |
| 68 | Cell cycle_Homo sapiens_hsa04110 | 0.47463663 |
| 69 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.47258961 |
| 70 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.47170035 |
| 71 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.46715425 |
| 72 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.46433588 |
| 73 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.45963590 |
| 74 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.45730880 |
| 75 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.45243831 |
| 76 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.45091291 |
| 77 | Base excision repair_Homo sapiens_hsa03410 | 0.44662690 |
| 78 | Purine metabolism_Homo sapiens_hsa00230 | 0.41660736 |
| 79 | Adherens junction_Homo sapiens_hsa04520 | 0.40077110 |
| 80 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.39050015 |
| 81 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.38865851 |
| 82 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.37559254 |
| 83 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.37098797 |
| 84 | Huntingtons disease_Homo sapiens_hsa05016 | 0.36595699 |
| 85 | Bile secretion_Homo sapiens_hsa04976 | 0.36282159 |
| 86 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.35463790 |
| 87 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.34577440 |
| 88 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.34163286 |
| 89 | Carbon metabolism_Homo sapiens_hsa01200 | 0.33396108 |
| 90 | Metabolic pathways_Homo sapiens_hsa01100 | 0.33339309 |
| 91 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.32274543 |
| 92 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.28885041 |
| 93 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.28755055 |
| 94 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.28338010 |
| 95 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.26621964 |
| 96 | Influenza A_Homo sapiens_hsa05164 | 0.26332864 |
| 97 | Renin secretion_Homo sapiens_hsa04924 | 0.25962121 |
| 98 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.24765305 |
| 99 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.23863406 |
| 100 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.22975562 |

