

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | spermatid development (GO:0007286) | 9.46309931 |
| 2 | sperm capacitation (GO:0048240) | 8.45155870 |
| 3 | multicellular organism reproduction (GO:0032504) | 8.23281774 |
| 4 | plasma membrane fusion (GO:0045026) | 8.22614164 |
| 5 | sperm-egg recognition (GO:0035036) | 7.99433671 |
| 6 | binding of sperm to zona pellucida (GO:0007339) | 7.84513548 |
| 7 | chromosome condensation (GO:0030261) | 7.50013622 |
| 8 | microtubule depolymerization (GO:0007019) | 7.41984731 |
| 9 | DNA packaging (GO:0006323) | 7.29527745 |
| 10 | response to pheromone (GO:0019236) | 7.22099300 |
| 11 | reproduction (GO:0000003) | 7.13054226 |
| 12 | axonemal dynein complex assembly (GO:0070286) | 6.99642570 |
| 13 | spermatid nucleus differentiation (GO:0007289) | 6.91995398 |
| 14 | calcium ion-dependent exocytosis (GO:0017156) | 6.74716123 |
| 15 | cell-cell recognition (GO:0009988) | 6.72927047 |
| 16 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.67804663 |
| 17 | single strand break repair (GO:0000012) | 6.52755382 |
| 18 | negative regulation of inclusion body assembly (GO:0090084) | 6.50345514 |
| 19 | phosphatidylethanolamine metabolic process (GO:0046337) | 6.17459763 |
| 20 | protein polyglutamylation (GO:0018095) | 6.11449789 |
| 21 | motile cilium assembly (GO:0044458) | 6.11408751 |
| 22 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 6.09933266 |
| 23 | rRNA methylation (GO:0031167) | 5.95327353 |
| 24 | microtubule polymerization or depolymerization (GO:0031109) | 5.94930629 |
| 25 | spermatogenesis (GO:0007283) | 5.81863799 |
| 26 | protein targeting to Golgi (GO:0000042) | 5.80370488 |
| 27 | male gamete generation (GO:0048232) | 5.79674419 |
| 28 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.74039449 |
| 29 | single fertilization (GO:0007338) | 5.59673559 |
| 30 | establishment of protein localization to Golgi (GO:0072600) | 5.57751657 |
| 31 | microtubule severing (GO:0051013) | 5.38699212 |
| 32 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.37552709 |
| 33 | germ cell development (GO:0007281) | 5.32779861 |
| 34 | gamete generation (GO:0007276) | 5.32292780 |
| 35 | organic cation transport (GO:0015695) | 5.26875354 |
| 36 | sexual reproduction (GO:0019953) | 5.14673423 |
| 37 | epithelial cilium movement (GO:0003351) | 5.03549445 |
| 38 | male meiosis (GO:0007140) | 4.98714392 |
| 39 | centriole assembly (GO:0098534) | 4.98200535 |
| 40 | centriole replication (GO:0007099) | 4.96242852 |
| 41 | polyamine biosynthetic process (GO:0006596) | 4.94810397 |
| 42 | rRNA modification (GO:0000154) | 4.91647494 |
| 43 | regulation of cilium movement (GO:0003352) | 4.90957498 |
| 44 | regulation of Rab GTPase activity (GO:0032313) | 4.89773826 |
| 45 | positive regulation of Rab GTPase activity (GO:0032851) | 4.89773826 |
| 46 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.86824143 |
| 47 | nucleosome disassembly (GO:0006337) | 4.82979859 |
| 48 | protein-DNA complex disassembly (GO:0032986) | 4.82979859 |
| 49 | cellular ketone body metabolic process (GO:0046950) | 4.78063119 |
| 50 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.73169320 |
| 51 | coenzyme catabolic process (GO:0009109) | 4.68596104 |
| 52 | regulation of inclusion body assembly (GO:0090083) | 4.61289674 |
| 53 | response to acidic pH (GO:0010447) | 4.59007088 |
| 54 | fertilization (GO:0009566) | 4.41841922 |
| 55 | cilium movement (GO:0003341) | 4.29134341 |
| 56 | multicellular organismal reproductive process (GO:0048609) | 4.28850378 |
| 57 | ketone body metabolic process (GO:1902224) | 4.20649001 |
| 58 | protein localization to Golgi apparatus (GO:0034067) | 4.09294388 |
| 59 | cell wall macromolecule metabolic process (GO:0044036) | 4.01101166 |
| 60 | cellular response to pH (GO:0071467) | 3.79915161 |
| 61 | cell wall macromolecule catabolic process (GO:0016998) | 3.78246631 |
| 62 | RNA destabilization (GO:0050779) | 3.75838361 |
| 63 | regulation of centriole replication (GO:0046599) | 3.69860744 |
| 64 | nucleus organization (GO:0006997) | 3.55880628 |
| 65 | histone H3-K9 demethylation (GO:0033169) | 3.55128323 |
| 66 | positive regulation of synaptic transmission, dopaminergic (GO:0032226) | 3.55094266 |
| 67 | ventricular system development (GO:0021591) | 3.47321902 |
| 68 | chromatin silencing (GO:0006342) | 3.42718713 |
| 69 | histone exchange (GO:0043486) | 3.41032037 |
| 70 | seminiferous tubule development (GO:0072520) | 3.37084084 |
| 71 | regulation of microtubule-based movement (GO:0060632) | 3.36181341 |
| 72 | positive regulation of catecholamine secretion (GO:0033605) | 3.34368277 |
| 73 | cellular biogenic amine biosynthetic process (GO:0042401) | 3.27553190 |
| 74 | cell recognition (GO:0008037) | 3.25986091 |
| 75 | cranial nerve morphogenesis (GO:0021602) | 3.19057189 |
| 76 | amine biosynthetic process (GO:0009309) | 3.16317858 |
| 77 | multicellular organismal movement (GO:0050879) | 3.14818352 |
| 78 | musculoskeletal movement (GO:0050881) | 3.14818352 |
| 79 | regulation of ARF GTPase activity (GO:0032312) | 3.12768101 |
| 80 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 3.12176822 |
| 81 | male sex determination (GO:0030238) | 3.11559907 |
| 82 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 3.08447263 |
| 83 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.08363604 |
| 84 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.07568423 |
| 85 | multicellular organismal development (GO:0007275) | 2.99188046 |
| 86 | negative regulation of Rho protein signal transduction (GO:0035024) | 2.98749058 |
| 87 | mitochondrion degradation (GO:0000422) | 2.95615738 |
| 88 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 2.92650224 |
| 89 | membrane protein intracellular domain proteolysis (GO:0031293) | 2.89280224 |
| 90 | cerebral cortex neuron differentiation (GO:0021895) | 2.87455034 |
| 91 | protein depolymerization (GO:0051261) | 2.84159112 |
| 92 | receptor recycling (GO:0001881) | 2.83303240 |
| 93 | positive regulation of glycolytic process (GO:0045821) | 2.82330818 |
| 94 | Golgi to endosome transport (GO:0006895) | 2.72151682 |
| 95 | homeostasis of number of cells within a tissue (GO:0048873) | 2.71975354 |
| 96 | regulation of interleukin-13 production (GO:0032656) | 2.71206663 |
| 97 | DNA methylation involved in gamete generation (GO:0043046) | 2.70140611 |
| 98 | acrosome reaction (GO:0007340) | 12.7342790 |
| 99 | sperm motility (GO:0030317) | 12.3619203 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.7645269 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 5.20793813 |
| 2 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 4.17399107 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.34138120 |
| 4 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.82153545 |
| 5 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.81373145 |
| 6 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 2.78824863 |
| 7 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.66320637 |
| 8 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.53732738 |
| 9 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.53732738 |
| 10 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.49548343 |
| 11 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.25730509 |
| 12 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.25730509 |
| 13 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.24004988 |
| 14 | FUS_26573619_Chip-Seq_HEK293_Human | 2.20746577 |
| 15 | NANOG_20526341_ChIP-Seq_ESCs_Human | 2.01587780 |
| 16 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.94703191 |
| 17 | ERA_21632823_ChIP-Seq_H3396_Human | 1.91939783 |
| 18 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.88969213 |
| 19 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.88835172 |
| 20 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.86860402 |
| 21 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.80609691 |
| 22 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.79848741 |
| 23 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.78103967 |
| 24 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.76582688 |
| 25 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.72948307 |
| 26 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 1.70518073 |
| 27 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.70363491 |
| 28 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.70075066 |
| 29 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.65157799 |
| 30 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.64791787 |
| 31 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.63621450 |
| 32 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.61936326 |
| 33 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.61758867 |
| 34 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.52988609 |
| 35 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.49525268 |
| 36 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.49403886 |
| 37 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.48791690 |
| 38 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.48464458 |
| 39 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.46644041 |
| 40 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.45628132 |
| 41 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.45412044 |
| 42 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.45362204 |
| 43 | AR_25329375_ChIP-Seq_VCAP_Human | 1.45130879 |
| 44 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.44237977 |
| 45 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.43873131 |
| 46 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.41766782 |
| 47 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.38806213 |
| 48 | P68_20966046_ChIP-Seq_HELA_Human | 1.37573750 |
| 49 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.37309190 |
| 50 | P300_19829295_ChIP-Seq_ESCs_Human | 1.34444193 |
| 51 | TBL1_22424771_ChIP-Seq_293T_Human | 1.33976984 |
| 52 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.33914525 |
| 53 | P300_27268052_Chip-Seq_Bcells_Human | 1.32829072 |
| 54 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.32259880 |
| 55 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.29665397 |
| 56 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.29456059 |
| 57 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.29321586 |
| 58 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.27760163 |
| 59 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.27756656 |
| 60 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.27221065 |
| 61 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.26922230 |
| 62 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.26576629 |
| 63 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.26234259 |
| 64 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.25673069 |
| 65 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.24060412 |
| 66 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.23352083 |
| 67 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.22888803 |
| 68 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.22399464 |
| 69 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.21996088 |
| 70 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.21442964 |
| 71 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.19327078 |
| 72 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.17887854 |
| 73 | NFYB_21822215_ChIP-Seq_K562_Human | 1.17879093 |
| 74 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.16621513 |
| 75 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.16530184 |
| 76 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.16324995 |
| 77 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.15748601 |
| 78 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.14889673 |
| 79 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.14889673 |
| 80 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.12843239 |
| 81 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.10443962 |
| 82 | SPI1_20517297_ChIP-Seq_HL60_Human | 1.10223207 |
| 83 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.09933362 |
| 84 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.09897001 |
| 85 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.08495766 |
| 86 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.04588080 |
| 87 | STAT3_23295773_ChIP-Seq_U87_Human | 1.02608806 |
| 88 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.02346509 |
| 89 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.01560020 |
| 90 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.01234102 |
| 91 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.01082982 |
| 92 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.00866146 |
| 93 | NFYA_21822215_ChIP-Seq_K562_Human | 1.00517881 |
| 94 | FOXH1_21741376_ChIP-Seq_ESCs_Human | 0.99781931 |
| 95 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 0.99302785 |
| 96 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 0.99217546 |
| 97 | HOXB7_26014856_ChIP-Seq_BT474_Human | 0.98684059 |
| 98 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 0.97234495 |
| 99 | GF1_26923725_Chip-Seq_HPCs_Mouse | 0.97219910 |
| 100 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.94656945 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 4.66725499 |
| 2 | MP0003878_abnormal_ear_physiology | 4.26460682 |
| 3 | MP0005377_hearing/vestibular/ear_phenot | 4.26460682 |
| 4 | MP0001929_abnormal_gametogenesis | 4.08059257 |
| 5 | MP0005670_abnormal_white_adipose | 3.94964567 |
| 6 | MP0002161_abnormal_fertility/fecundity | 2.57324227 |
| 7 | MP0002132_abnormal_respiratory_system | 2.47207230 |
| 8 | MP0008004_abnormal_stomach_pH | 2.37077099 |
| 9 | MP0000678_abnormal_parathyroid_gland | 2.17587885 |
| 10 | MP0001348_abnormal_lacrimal_gland | 2.14547051 |
| 11 | MP0003315_abnormal_perineum_morphology | 2.14184520 |
| 12 | MP0003718_maternal_effect | 2.12677367 |
| 13 | MP0005410_abnormal_fertilization | 13.0801134 |
| 14 | MP0002210_abnormal_sex_determination | 1.94154306 |
| 15 | MP0002822_catalepsy | 1.81023235 |
| 16 | MP0001145_abnormal_male_reproductive | 1.65142435 |
| 17 | MP0000653_abnormal_sex_gland | 1.54369569 |
| 18 | MP0002249_abnormal_larynx_morphology | 1.47528028 |
| 19 | MP0003646_muscle_fatigue | 1.47148710 |
| 20 | MP0001485_abnormal_pinna_reflex | 1.44767656 |
| 21 | MP0001905_abnormal_dopamine_level | 1.33990299 |
| 22 | MP0002160_abnormal_reproductive_system | 1.33748920 |
| 23 | MP0001984_abnormal_olfaction | 1.26695113 |
| 24 | MP0001486_abnormal_startle_reflex | 1.24692628 |
| 25 | MP0002127_abnormal_cardiovascular_syste | 1.22782716 |
| 26 | MP0005248_abnormal_Harderian_gland | 1.20232325 |
| 27 | MP0004859_abnormal_synaptic_plasticity | 1.18426547 |
| 28 | MP0009697_abnormal_copulation | 1.17990088 |
| 29 | MP0005423_abnormal_somatic_nervous | 1.17518510 |
| 30 | MP0002282_abnormal_trachea_morphology | 1.17118865 |
| 31 | MP0005395_other_phenotype | 1.14723352 |
| 32 | MP0005647_abnormal_sex_gland | 1.10833739 |
| 33 | MP0002234_abnormal_pharynx_morphology | 1.09799797 |
| 34 | MP0003879_abnormal_hair_cell | 1.08032881 |
| 35 | MP0005451_abnormal_body_composition | 1.07198900 |
| 36 | MP0003011_delayed_dark_adaptation | 1.03158093 |
| 37 | MP0002138_abnormal_hepatobiliary_system | 1.02873565 |
| 38 | MP0005379_endocrine/exocrine_gland_phen | 1.02594547 |
| 39 | MP0005360_urolithiasis | 1.02483041 |
| 40 | MP0001968_abnormal_touch/_nociception | 1.02051996 |
| 41 | MP0001963_abnormal_hearing_physiology | 0.97428654 |
| 42 | MP0000534_abnormal_ureter_morphology | 0.96057516 |
| 43 | MP0008995_early_reproductive_senescence | 0.92752938 |
| 44 | MP0000026_abnormal_inner_ear | 0.90323659 |
| 45 | MP0003045_fibrosis | 0.89858250 |
| 46 | MP0004742_abnormal_vestibular_system | 0.87772961 |
| 47 | MP0005394_taste/olfaction_phenotype | 0.87080020 |
| 48 | MP0005499_abnormal_olfactory_system | 0.87080020 |
| 49 | MP0010386_abnormal_urinary_bladder | 0.86772173 |
| 50 | MP0001765_abnormal_ion_homeostasis | 0.86753158 |
| 51 | MP0004085_abnormal_heartbeat | 0.85711329 |
| 52 | MP0002735_abnormal_chemical_nociception | 0.85565871 |
| 53 | MP0005253_abnormal_eye_physiology | 0.83633998 |
| 54 | MP0005310_abnormal_salivary_gland | 0.80634906 |
| 55 | MP0004510_myositis | 0.80120079 |
| 56 | MP0000049_abnormal_middle_ear | 0.75213609 |
| 57 | MP0005551_abnormal_eye_electrophysiolog | 0.75147779 |
| 58 | MP0010368_abnormal_lymphatic_system | 0.74883119 |
| 59 | MP0003136_yellow_coat_color | 0.73056628 |
| 60 | MP0002229_neurodegeneration | 0.73055141 |
| 61 | MP0000955_abnormal_spinal_cord | 0.70285648 |
| 62 | MP0000681_abnormal_thyroid_gland | 0.69811630 |
| 63 | MP0009115_abnormal_fat_cell | 0.69206163 |
| 64 | MP0002067_abnormal_sensory_capabilities | 0.67857682 |
| 65 | MP0009053_abnormal_anal_canal | 0.64589356 |
| 66 | MP0004484_altered_response_of | 0.64341561 |
| 67 | MP0003632_abnormal_nervous_system | 0.63871421 |
| 68 | MP0003936_abnormal_reproductive_system | 0.62814492 |
| 69 | MP0002272_abnormal_nervous_system | 0.62234739 |
| 70 | MP0001501_abnormal_sleep_pattern | 0.61068388 |
| 71 | MP0003631_nervous_system_phenotype | 0.60842964 |
| 72 | MP0004036_abnormal_muscle_relaxation | 0.60409362 |
| 73 | MP0004084_abnormal_cardiac_muscle | 0.60134452 |
| 74 | MP0000470_abnormal_stomach_morphology | 0.59756116 |
| 75 | MP0001664_abnormal_digestion | 0.58819281 |
| 76 | MP0002557_abnormal_social/conspecific_i | 0.58689075 |
| 77 | MP0001879_abnormal_lymphatic_vessel | 0.57330493 |
| 78 | MP0008569_lethality_at_weaning | 0.56719658 |
| 79 | MP0005167_abnormal_blood-brain_barrier | 0.56276795 |
| 80 | MP0001270_distended_abdomen | 0.54534280 |
| 81 | MP0002572_abnormal_emotion/affect_behav | 0.51791638 |
| 82 | MP0008877_abnormal_DNA_methylation | 0.51748531 |
| 83 | MP0001188_hyperpigmentation | 0.51147310 |
| 84 | MP0005389_reproductive_system_phenotype | 0.51061906 |
| 85 | MP0002168_other_aberrant_phenotype | 0.50382015 |
| 86 | MP0009745_abnormal_behavioral_response | 0.49417981 |
| 87 | MP0003635_abnormal_synaptic_transmissio | 0.46983822 |
| 88 | MP0000230_abnormal_systemic_arterial | 0.46516213 |
| 89 | MP0008789_abnormal_olfactory_epithelium | 0.46502668 |
| 90 | MP0001666_abnormal_nutrient_absorption | 0.46292467 |
| 91 | MP0001529_abnormal_vocalization | 0.45982785 |
| 92 | MP0005166_decreased_susceptibility_to | 0.43768237 |
| 93 | MP0003633_abnormal_nervous_system | 0.42628975 |
| 94 | MP0005391_vision/eye_phenotype | 0.42357353 |
| 95 | MP0003699_abnormal_female_reproductive | 0.40762778 |
| 96 | MP0002733_abnormal_thermal_nociception | 0.40432928 |
| 97 | MP0005083_abnormal_biliary_tract | 0.38969204 |
| 98 | MP0003077_abnormal_cell_cycle | 0.37805015 |
| 99 | MP0000538_abnormal_urinary_bladder | 0.37574910 |
| 100 | MP0005595_abnormal_vascular_smooth | 0.37481516 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Resting tremor (HP:0002322) | 6.72993626 |
| 2 | Severe visual impairment (HP:0001141) | 6.67978230 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.59954248 |
| 4 | Absent/shortened dynein arms (HP:0200106) | 6.59954248 |
| 5 | Abnormal respiratory motile cilium physiology (HP:0012261) | 5.51953532 |
| 6 | Abnormal ciliary motility (HP:0012262) | 5.49413517 |
| 7 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 5.42484676 |
| 8 | Infertility (HP:0000789) | 4.98466051 |
| 9 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.90304708 |
| 10 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.90304708 |
| 11 | Tubulointerstitial nephritis (HP:0001970) | 4.84728522 |
| 12 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.52680739 |
| 13 | Asymmetric septal hypertrophy (HP:0001670) | 4.50688564 |
| 14 | Postural instability (HP:0002172) | 4.40259545 |
| 15 | Attenuation of retinal blood vessels (HP:0007843) | 4.37582857 |
| 16 | Chronic hepatic failure (HP:0100626) | 4.21231597 |
| 17 | Nasal polyposis (HP:0100582) | 4.20077457 |
| 18 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.15666798 |
| 19 | Bell-shaped thorax (HP:0001591) | 4.11589905 |
| 20 | Abnormality of macular pigmentation (HP:0008002) | 3.80208728 |
| 21 | Male infertility (HP:0003251) | 3.77485466 |
| 22 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.77293172 |
| 23 | Hyperkalemia (HP:0002153) | 3.63846432 |
| 24 | Abnormality of the nasal mucosa (HP:0000433) | 3.48906240 |
| 25 | Hypoplastic ischia (HP:0003175) | 3.37220603 |
| 26 | Facial shape deformation (HP:0011334) | 3.35737497 |
| 27 | Potter facies (HP:0002009) | 3.35737497 |
| 28 | Rhinitis (HP:0012384) | 3.32525859 |
| 29 | Abnormal sex determination (HP:0012244) | 3.28801915 |
| 30 | Sex reversal (HP:0012245) | 3.28801915 |
| 31 | Impulsivity (HP:0100710) | 3.23059894 |
| 32 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.08614961 |
| 33 | Abnormality of the ischium (HP:0003174) | 3.06209408 |
| 34 | Enlarged epiphyses (HP:0010580) | 2.92210957 |
| 35 | Hypoplasia of the thymus (HP:0000778) | 2.89462246 |
| 36 | Cone-rod dystrophy (HP:0000548) | 2.88259751 |
| 37 | Azoospermia (HP:0000027) | 2.86190781 |
| 38 | Abnormal spermatogenesis (HP:0008669) | 2.85040752 |
| 39 | Renal dysplasia (HP:0000110) | 2.74982115 |
| 40 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.65443245 |
| 41 | Hypoplasia of the uterus (HP:0000013) | 2.60774605 |
| 42 | Cerebellar dysplasia (HP:0007033) | 2.58495636 |
| 43 | Abnormal urine output (HP:0012590) | 2.54207999 |
| 44 | Occipital encephalocele (HP:0002085) | 2.46917015 |
| 45 | Hypoalphalipoproteinemia (HP:0003233) | 2.45062192 |
| 46 | Bronchiectasis (HP:0002110) | 2.42071251 |
| 47 | Chronic bronchitis (HP:0004469) | 2.41016587 |
| 48 | Flattened epiphyses (HP:0003071) | 2.36604483 |
| 49 | Polydipsia (HP:0001959) | 2.36274957 |
| 50 | Abnormal drinking behavior (HP:0030082) | 2.36274957 |
| 51 | Abnormality of dental color (HP:0011073) | 2.36221621 |
| 52 | Congenital sensorineural hearing impairment (HP:0008527) | 2.36181584 |
| 53 | Nephronophthisis (HP:0000090) | 2.35848726 |
| 54 | Progressive sensorineural hearing impairment (HP:0000408) | 2.32564890 |
| 55 | Colitis (HP:0002583) | 2.24988787 |
| 56 | Sensory axonal neuropathy (HP:0003390) | 2.24806855 |
| 57 | Abnormality of the aortic arch (HP:0012303) | 2.23449320 |
| 58 | Gonadal dysgenesis (HP:0000133) | 2.22561548 |
| 59 | Progressive cerebellar ataxia (HP:0002073) | 2.22311283 |
| 60 | Generalized aminoaciduria (HP:0002909) | 2.21797910 |
| 61 | Epiphyseal dysplasia (HP:0002656) | 2.20326342 |
| 62 | Truncal obesity (HP:0001956) | 2.19335616 |
| 63 | Tubulointerstitial abnormality (HP:0001969) | 2.17519599 |
| 64 | Double outlet right ventricle (HP:0001719) | 2.16631633 |
| 65 | Congenital malformation of the right heart (HP:0011723) | 2.16631633 |
| 66 | Renovascular hypertension (HP:0100817) | 2.15758609 |
| 67 | Abnormality of renal excretion (HP:0011036) | 2.15451219 |
| 68 | Portal hypertension (HP:0001409) | 2.13251113 |
| 69 | Type II lissencephaly (HP:0007260) | 2.12366458 |
| 70 | Male pseudohermaphroditism (HP:0000037) | 2.11956848 |
| 71 | Abnormality of the columella (HP:0009929) | 2.11213026 |
| 72 | Abnormality of potassium homeostasis (HP:0011042) | 2.07415412 |
| 73 | Optic nerve hypoplasia (HP:0000609) | 2.05295727 |
| 74 | Atonic seizures (HP:0010819) | 2.04906837 |
| 75 | Polyuria (HP:0000103) | 2.04079517 |
| 76 | Menstrual irregularities (HP:0000858) | 2.03854530 |
| 77 | Anterior segment dysgenesis (HP:0007700) | 2.03756504 |
| 78 | Abnormality of the hepatic vasculature (HP:0006707) | 2.01323181 |
| 79 | Retinal dysplasia (HP:0007973) | 2.00567590 |
| 80 | Abnormality of the costochondral junction (HP:0000919) | 1.99741135 |
| 81 | Recurrent corneal erosions (HP:0000495) | 1.98457670 |
| 82 | Stage 5 chronic kidney disease (HP:0003774) | 1.97096965 |
| 83 | Abnormality of the renal medulla (HP:0100957) | 1.95146127 |
| 84 | Aplasia/hypoplasia of the uterus (HP:0008684) | 1.94109980 |
| 85 | Unilateral renal agenesis (HP:0000122) | 1.93124640 |
| 86 | Germ cell neoplasia (HP:0100728) | 1.92768358 |
| 87 | Insulin-resistant diabetes mellitus (HP:0000831) | 1.92532074 |
| 88 | Hypophosphatemic rickets (HP:0004912) | 1.89117123 |
| 89 | Widely patent fontanelles and sutures (HP:0004492) | 1.87091988 |
| 90 | Amelogenesis imperfecta (HP:0000705) | 1.86715610 |
| 91 | Retinal atrophy (HP:0001105) | 1.84230111 |
| 92 | Photophobia (HP:0000613) | 1.79054227 |
| 93 | Bulbous nose (HP:0000414) | 1.78500841 |
| 94 | Absent epiphyses (HP:0010577) | 1.78350396 |
| 95 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.78350396 |
| 96 | Recurrent pneumonia (HP:0006532) | 1.73621016 |
| 97 | Protuberant abdomen (HP:0001538) | 1.71515480 |
| 98 | Mixed hearing impairment (HP:0000410) | 1.68358160 |
| 99 | Type II diabetes mellitus (HP:0005978) | 1.64648719 |
| 100 | Increased purine levels (HP:0004368) | 1.64506856 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 6.93338816 |
| 2 | PINK1 | 6.48905687 |
| 3 | TESK1 | 4.66939534 |
| 4 | DDR2 | 4.25158245 |
| 5 | STK38 | 3.50810408 |
| 6 | MARK3 | 3.14585815 |
| 7 | INSRR | 2.85474341 |
| 8 | STK38L | 2.69923894 |
| 9 | MAPK15 | 2.46505948 |
| 10 | PLK2 | 2.41187391 |
| 11 | MAP4K2 | 2.26066256 |
| 12 | PNCK | 2.18245309 |
| 13 | PRKD3 | 2.12902087 |
| 14 | BRD4 | 2.09541138 |
| 15 | MST1R | 2.05619670 |
| 16 | ZAK | 1.96812741 |
| 17 | TLK1 | 1.83361385 |
| 18 | CAMK1G | 1.80517477 |
| 19 | LATS1 | 1.55892544 |
| 20 | MYLK | 1.47472548 |
| 21 | PDPK1 | 1.40693470 |
| 22 | NEK2 | 1.35114078 |
| 23 | RPS6KA5 | 1.29083654 |
| 24 | PDK1 | 1.25567133 |
| 25 | PIK3CG | 1.19609314 |
| 26 | WNK1 | 1.14877709 |
| 27 | PTK2B | 1.07715840 |
| 28 | LATS2 | 1.07442784 |
| 29 | MAP3K9 | 1.06502122 |
| 30 | CDK3 | 1.03475013 |
| 31 | CDK12 | 0.99625560 |
| 32 | CDK7 | 0.98408746 |
| 33 | SGK494 | 0.93417982 |
| 34 | SGK223 | 0.93417982 |
| 35 | NEK6 | 0.89503599 |
| 36 | AKT3 | 0.85323041 |
| 37 | PRKG2 | 0.84524237 |
| 38 | DYRK1B | 0.81670711 |
| 39 | MAP2K7 | 0.78598992 |
| 40 | BMPR1B | 0.77180982 |
| 41 | KSR2 | 0.74792102 |
| 42 | ROCK1 | 0.70625568 |
| 43 | BRAF | 0.69940321 |
| 44 | ARAF | 0.69214672 |
| 45 | PRKG1 | 0.69092158 |
| 46 | CAMK1D | 0.63068284 |
| 47 | MAP3K1 | 0.60981568 |
| 48 | RPS6KA1 | 0.60916863 |
| 49 | FRK | 0.60422314 |
| 50 | CAMK1 | 0.56791546 |
| 51 | RPS6KA2 | 0.55905490 |
| 52 | DYRK3 | 0.50614933 |
| 53 | OBSCN | 0.50428422 |
| 54 | PRKCQ | 0.47950256 |
| 55 | TYRO3 | 0.41255446 |
| 56 | SIK2 | 0.40606184 |
| 57 | TIE1 | 0.39024737 |
| 58 | MAP3K2 | 0.38698394 |
| 59 | MAPK1 | 0.37487654 |
| 60 | MTOR | 0.37408529 |
| 61 | STK39 | 0.37195116 |
| 62 | MAP3K8 | 0.36994793 |
| 63 | GSK3B | 0.34941666 |
| 64 | PKN1 | 0.34627262 |
| 65 | CDK14 | 0.33959051 |
| 66 | PRKAA2 | 0.32793593 |
| 67 | VRK1 | 0.32576763 |
| 68 | UHMK1 | 0.30079649 |
| 69 | WNK4 | 0.29603411 |
| 70 | CDK2 | 0.28912838 |
| 71 | CDK1 | 0.27852680 |
| 72 | SGK2 | 0.25710099 |
| 73 | CAMK4 | 0.25693960 |
| 74 | DYRK2 | 0.25682888 |
| 75 | MUSK | 0.24727016 |
| 76 | PAK1 | 0.24590529 |
| 77 | MET | 0.24325436 |
| 78 | RPS6KL1 | 0.21265768 |
| 79 | RPS6KC1 | 0.21265768 |
| 80 | MAP3K13 | 0.21057074 |
| 81 | MAPK8 | 0.20780938 |
| 82 | PAK2 | 0.20282106 |
| 83 | SGK1 | 0.19776964 |
| 84 | FGFR2 | 0.19356327 |
| 85 | CDK5 | 0.18747884 |
| 86 | MAP3K11 | 0.18458577 |
| 87 | TNIK | 0.18433194 |
| 88 | PRKCB | 0.18036231 |
| 89 | RPS6KA6 | 0.17178247 |
| 90 | MINK1 | 0.16399132 |
| 91 | CDK4 | 0.15555805 |
| 92 | PRKCG | 0.15116634 |
| 93 | CHEK1 | 0.14489037 |
| 94 | ADRBK2 | 0.14235100 |
| 95 | MAP2K2 | 0.13047566 |
| 96 | RPS6KA3 | 0.12275773 |
| 97 | CSNK1A1L | 0.11918649 |
| 98 | ATM | 0.10648851 |
| 99 | MAPK11 | 0.10346193 |
| 100 | MAPK10 | 0.09880455 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 6.18406859 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 5.48122474 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.91067999 |
| 4 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 3.07742410 |
| 5 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.79099812 |
| 6 | Gap junction_Homo sapiens_hsa04540 | 2.51768504 |
| 7 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 2.31836105 |
| 8 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 2.27469050 |
| 9 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.99532067 |
| 10 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.96562341 |
| 11 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.84899140 |
| 12 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.72497514 |
| 13 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.69285740 |
| 14 | Taste transduction_Homo sapiens_hsa04742 | 1.69136786 |
| 15 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.62066152 |
| 16 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.51449898 |
| 17 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 1.48366328 |
| 18 | Alcoholism_Homo sapiens_hsa05034 | 1.37159806 |
| 19 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.33580274 |
| 20 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.27222708 |
| 21 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.24777093 |
| 22 | Phagosome_Homo sapiens_hsa04145 | 1.18716974 |
| 23 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.15506644 |
| 24 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.11473147 |
| 25 | RNA transport_Homo sapiens_hsa03013 | 1.11206302 |
| 26 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.09787907 |
| 27 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.04566079 |
| 28 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.02430344 |
| 29 | Apoptosis_Homo sapiens_hsa04210 | 0.99982467 |
| 30 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.95822356 |
| 31 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.92071303 |
| 32 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.89957045 |
| 33 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.88850433 |
| 34 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.86913019 |
| 35 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.86656894 |
| 36 | Renin secretion_Homo sapiens_hsa04924 | 0.85999285 |
| 37 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.85134515 |
| 38 | Phototransduction_Homo sapiens_hsa04744 | 0.84598693 |
| 39 | Salivary secretion_Homo sapiens_hsa04970 | 0.83417280 |
| 40 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.82739478 |
| 41 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.82095758 |
| 42 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.80877429 |
| 43 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.78978921 |
| 44 | Circadian entrainment_Homo sapiens_hsa04713 | 0.78691312 |
| 45 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.76851388 |
| 46 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.76523821 |
| 47 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.74225067 |
| 48 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.72460852 |
| 49 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.71748414 |
| 50 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.70921795 |
| 51 | Endocytosis_Homo sapiens_hsa04144 | 0.69658663 |
| 52 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.67957907 |
| 53 | Allograft rejection_Homo sapiens_hsa05330 | 0.67242070 |
| 54 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.65233105 |
| 55 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.64572489 |
| 56 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.62501268 |
| 57 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.62091841 |
| 58 | Morphine addiction_Homo sapiens_hsa05032 | 0.61619597 |
| 59 | Purine metabolism_Homo sapiens_hsa00230 | 0.60104239 |
| 60 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.59966313 |
| 61 | ABC transporters_Homo sapiens_hsa02010 | 0.59598854 |
| 62 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.59455326 |
| 63 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.58020924 |
| 64 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.57726349 |
| 65 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.55337472 |
| 66 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.54980980 |
| 67 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.54095746 |
| 68 | Basal transcription factors_Homo sapiens_hsa03022 | 0.53741248 |
| 69 | Retinol metabolism_Homo sapiens_hsa00830 | 0.53586869 |
| 70 | Nicotine addiction_Homo sapiens_hsa05033 | 0.48897993 |
| 71 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.47975620 |
| 72 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.47569624 |
| 73 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.47287927 |
| 74 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.46304454 |
| 75 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.43513301 |
| 76 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.42879661 |
| 77 | Viral myocarditis_Homo sapiens_hsa05416 | 0.42255065 |
| 78 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.41599000 |
| 79 | Influenza A_Homo sapiens_hsa05164 | 0.41269539 |
| 80 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.39926845 |
| 81 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.39838207 |
| 82 | Tight junction_Homo sapiens_hsa04530 | 0.39533857 |
| 83 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.39369305 |
| 84 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.39053464 |
| 85 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.37120688 |
| 86 | Bile secretion_Homo sapiens_hsa04976 | 0.36656782 |
| 87 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.36005142 |
| 88 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.35819965 |
| 89 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.35710075 |
| 90 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.35335558 |
| 91 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.35107419 |
| 92 | GABAergic synapse_Homo sapiens_hsa04727 | 0.34870912 |
| 93 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.33512175 |
| 94 | Circadian rhythm_Homo sapiens_hsa04710 | 0.32197423 |
| 95 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.31307963 |
| 96 | Long-term potentiation_Homo sapiens_hsa04720 | 0.30738089 |
| 97 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.29509249 |
| 98 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.28905901 |
| 99 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.27868114 |
| 100 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.27235798 |

