

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | fusion of sperm to egg plasma membrane (GO:0007342) | 9.04994189 |
| 2 | response to pheromone (GO:0019236) | 7.90533864 |
| 3 | chromosome condensation (GO:0030261) | 7.59889995 |
| 4 | spermatid development (GO:0007286) | 7.58213745 |
| 5 | negative regulation of inclusion body assembly (GO:0090084) | 7.47739884 |
| 6 | DNA packaging (GO:0006323) | 7.18133324 |
| 7 | spermatid nucleus differentiation (GO:0007289) | 7.11138521 |
| 8 | sperm capacitation (GO:0048240) | 7.10157055 |
| 9 | plasma membrane fusion (GO:0045026) | 6.99778610 |
| 10 | single strand break repair (GO:0000012) | 6.98400537 |
| 11 | rRNA methylation (GO:0031167) | 6.80749443 |
| 12 | multicellular organism reproduction (GO:0032504) | 6.71154595 |
| 13 | sperm-egg recognition (GO:0035036) | 6.70413343 |
| 14 | axonemal dynein complex assembly (GO:0070286) | 6.57156137 |
| 15 | binding of sperm to zona pellucida (GO:0007339) | 6.45318454 |
| 16 | microtubule depolymerization (GO:0007019) | 6.03430342 |
| 17 | reproduction (GO:0000003) | 5.95562578 |
| 18 | calcium ion-dependent exocytosis (GO:0017156) | 5.93544518 |
| 19 | microtubule polymerization or depolymerization (GO:0031109) | 5.87082100 |
| 20 | rRNA modification (GO:0000154) | 5.65103837 |
| 21 | cell-cell recognition (GO:0009988) | 5.60162882 |
| 22 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.36456014 |
| 23 | spermatogenesis (GO:0007283) | 5.33765027 |
| 24 | male gamete generation (GO:0048232) | 5.31551041 |
| 25 | protein targeting to Golgi (GO:0000042) | 5.25517560 |
| 26 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.18025749 |
| 27 | protein polyglutamylation (GO:0018095) | 5.17201005 |
| 28 | establishment of protein localization to Golgi (GO:0072600) | 5.11069543 |
| 29 | regulation of inclusion body assembly (GO:0090083) | 5.03869871 |
| 30 | motile cilium assembly (GO:0044458) | 5.01941429 |
| 31 | gamete generation (GO:0007276) | 4.89979377 |
| 32 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 4.87616051 |
| 33 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 4.85445010 |
| 34 | sexual reproduction (GO:0019953) | 4.78219507 |
| 35 | phosphatidylethanolamine metabolic process (GO:0046337) | 4.74653035 |
| 36 | microtubule severing (GO:0051013) | 4.69886161 |
| 37 | cellular ketone body metabolic process (GO:0046950) | 4.69256319 |
| 38 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.60938681 |
| 39 | regulation of cilium movement (GO:0003352) | 4.58486677 |
| 40 | chromatin silencing (GO:0006342) | 4.56009271 |
| 41 | centriole replication (GO:0007099) | 4.55353259 |
| 42 | germ cell development (GO:0007281) | 4.46348049 |
| 43 | single fertilization (GO:0007338) | 4.44092823 |
| 44 | epithelial cilium movement (GO:0003351) | 4.36739157 |
| 45 | ketone body metabolic process (GO:1902224) | 4.28405997 |
| 46 | cilium movement (GO:0003341) | 4.20392864 |
| 47 | negative regulation of Rho protein signal transduction (GO:0035024) | 4.14084375 |
| 48 | centriole assembly (GO:0098534) | 4.09092743 |
| 49 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.98573309 |
| 50 | regulation of Rab GTPase activity (GO:0032313) | 3.97939249 |
| 51 | positive regulation of Rab GTPase activity (GO:0032851) | 3.97939249 |
| 52 | seminiferous tubule development (GO:0072520) | 3.90973698 |
| 53 | multicellular organismal reproductive process (GO:0048609) | 3.89951637 |
| 54 | protein localization to Golgi apparatus (GO:0034067) | 3.89198524 |
| 55 | organic cation transport (GO:0015695) | 3.75787928 |
| 56 | fertilization (GO:0009566) | 3.70634267 |
| 57 | coenzyme catabolic process (GO:0009109) | 3.57934640 |
| 58 | musculoskeletal movement (GO:0050881) | 3.54707972 |
| 59 | multicellular organismal movement (GO:0050879) | 3.54707972 |
| 60 | regulation of centriole replication (GO:0046599) | 3.54415992 |
| 61 | cell wall macromolecule catabolic process (GO:0016998) | 3.45650572 |
| 62 | DNA methylation involved in gamete generation (GO:0043046) | 3.42160279 |
| 63 | cell wall macromolecule metabolic process (GO:0044036) | 3.36104200 |
| 64 | RNA destabilization (GO:0050779) | 3.32003630 |
| 65 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 3.30222559 |
| 66 | nucleus organization (GO:0006997) | 3.28030097 |
| 67 | glycerol ether metabolic process (GO:0006662) | 3.27315078 |
| 68 | positive regulation of action potential (GO:0045760) | 3.23547698 |
| 69 | piRNA metabolic process (GO:0034587) | 3.23513807 |
| 70 | male meiosis (GO:0007140) | 3.10655783 |
| 71 | glomerular epithelial cell development (GO:0072310) | 3.10434042 |
| 72 | glomerular visceral epithelial cell development (GO:0072015) | 3.10196382 |
| 73 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.02111249 |
| 74 | regulation of microtubule-based movement (GO:0060632) | 3.00653864 |
| 75 | peristalsis (GO:0030432) | 3.00584461 |
| 76 | ether metabolic process (GO:0018904) | 2.99526380 |
| 77 | negative regulation of gene expression, epigenetic (GO:0045814) | 2.96090084 |
| 78 | positive regulation of skeletal muscle tissue development (GO:0048643) | 2.95334819 |
| 79 | estrogen biosynthetic process (GO:0006703) | 2.91906545 |
| 80 | response to acidic pH (GO:0010447) | 2.91817376 |
| 81 | peptidyl-tyrosine autophosphorylation (GO:0038083) | 2.87706815 |
| 82 | protein refolding (GO:0042026) | 2.83832929 |
| 83 | nephron epithelium morphogenesis (GO:0072088) | 2.83439397 |
| 84 | nephron tubule morphogenesis (GO:0072078) | 2.83439397 |
| 85 | polyamine biosynthetic process (GO:0006596) | 2.78042450 |
| 86 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.77340293 |
| 87 | regulation of somitogenesis (GO:0014807) | 2.77266895 |
| 88 | cell recognition (GO:0008037) | 2.71407493 |
| 89 | cellular response to pH (GO:0071467) | 2.69620459 |
| 90 | ventricular system development (GO:0021591) | 2.66999113 |
| 91 | regulation of interleukin-13 production (GO:0032656) | 2.66478771 |
| 92 | positive regulation of endothelial cell differentiation (GO:0045603) | 2.66249206 |
| 93 | multicellular organismal development (GO:0007275) | 2.65798103 |
| 94 | microtubule nucleation (GO:0007020) | 2.65790987 |
| 95 | centrosome duplication (GO:0051298) | 2.60676697 |
| 96 | artery development (GO:0060840) | 2.59784222 |
| 97 | pattern specification involved in kidney development (GO:0061004) | 2.52770967 |
| 98 | metanephric mesenchyme development (GO:0072075) | 2.51676164 |
| 99 | sperm motility (GO:0030317) | 10.6863450 |
| 100 | acrosome reaction (GO:0007340) | 10.5002483 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 3.04140541 |
| 2 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.68486101 |
| 3 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 2.65454613 |
| 4 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.55329448 |
| 5 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 2.43600371 |
| 6 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.40511475 |
| 7 | FUS_26573619_Chip-Seq_HEK293_Human | 2.35678602 |
| 8 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.33328877 |
| 9 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.23902064 |
| 10 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.23902064 |
| 11 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.05361632 |
| 12 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.05361632 |
| 13 | ER_23166858_ChIP-Seq_MCF-7_Human | 2.01216190 |
| 14 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.99328447 |
| 15 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.98148221 |
| 16 | GATA1_22025678_ChIP-Seq_K562_Human | 1.92765021 |
| 17 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.81804719 |
| 18 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.73430264 |
| 19 | P300_19829295_ChIP-Seq_ESCs_Human | 1.71713051 |
| 20 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.71358872 |
| 21 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.68287421 |
| 22 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.67212551 |
| 23 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.56833764 |
| 24 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.56159940 |
| 25 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.54837549 |
| 26 | AR_25329375_ChIP-Seq_VCAP_Human | 1.52894056 |
| 27 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.52713985 |
| 28 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.52594189 |
| 29 | ERA_21632823_ChIP-Seq_H3396_Human | 1.52389041 |
| 30 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.51556943 |
| 31 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.49935698 |
| 32 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.48704938 |
| 33 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.45618414 |
| 34 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.44447192 |
| 35 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.43828645 |
| 36 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.42461535 |
| 37 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.41123612 |
| 38 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.40813227 |
| 39 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.40203765 |
| 40 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.37359908 |
| 41 | VDR_22108803_ChIP-Seq_LS180_Human | 1.37074934 |
| 42 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.35200765 |
| 43 | STAT3_23295773_ChIP-Seq_U87_Human | 1.34964676 |
| 44 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.34847180 |
| 45 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.34574835 |
| 46 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.33262052 |
| 47 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.32131139 |
| 48 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.31970129 |
| 49 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.30582481 |
| 50 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.30125428 |
| 51 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.28586064 |
| 52 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.28009635 |
| 53 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.27551282 |
| 54 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.26864155 |
| 55 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.26318550 |
| 56 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.25037086 |
| 57 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.23768496 |
| 58 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.22532712 |
| 59 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.22465590 |
| 60 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.22125218 |
| 61 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.22080387 |
| 62 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.21661446 |
| 63 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.21482556 |
| 64 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.21166292 |
| 65 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.21166292 |
| 66 | TBL1_22424771_ChIP-Seq_293T_Human | 1.21009006 |
| 67 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.20598054 |
| 68 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 1.20226019 |
| 69 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.19448598 |
| 70 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.19394455 |
| 71 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.17671693 |
| 72 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.17270229 |
| 73 | SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 1.17037075 |
| 74 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.16124621 |
| 75 | NFYB_21822215_ChIP-Seq_K562_Human | 1.14921682 |
| 76 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.14264856 |
| 77 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.14125693 |
| 78 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.13551696 |
| 79 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.12253054 |
| 80 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 1.12138849 |
| 81 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.11932423 |
| 82 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.11522255 |
| 83 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.10027739 |
| 84 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.09405766 |
| 85 | RNF2_18974828_ChIP-Seq_MESCs_Mouse | 1.08972956 |
| 86 | EZH2_18974828_ChIP-Seq_MESCs_Mouse | 1.08972956 |
| 87 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.08068433 |
| 88 | NFYA_21822215_ChIP-Seq_K562_Human | 1.08064672 |
| 89 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.07929713 |
| 90 | KDM2B_26808549_Chip-Seq_REH_Human | 1.07661460 |
| 91 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.07327277 |
| 92 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 1.05887030 |
| 93 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.04996594 |
| 94 | SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 1.04503486 |
| 95 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.02594905 |
| 96 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.01928331 |
| 97 | CJUN_26792858_Chip-Seq_BT549_Human | 1.01436793 |
| 98 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 0.99956107 |
| 99 | P53_22127205_ChIP-Seq_FIBROBLAST_Human | 0.99036904 |
| 100 | ERG_20517297_ChIP-Seq_VCAP_Human | 0.98732516 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 9.82101274 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 5.39404095 |
| 3 | MP0003878_abnormal_ear_physiology | 5.39404095 |
| 4 | MP0003698_abnormal_male_reproductive | 3.59466263 |
| 5 | MP0005670_abnormal_white_adipose | 3.40908398 |
| 6 | MP0001929_abnormal_gametogenesis | 3.06305569 |
| 7 | MP0001485_abnormal_pinna_reflex | 2.72179545 |
| 8 | MP0002234_abnormal_pharynx_morphology | 2.47091006 |
| 9 | MP0001486_abnormal_startle_reflex | 2.42420087 |
| 10 | MP0001348_abnormal_lacrimal_gland | 2.04751240 |
| 11 | MP0002161_abnormal_fertility/fecundity | 1.98257449 |
| 12 | MP0000678_abnormal_parathyroid_gland | 1.95694861 |
| 13 | MP0002249_abnormal_larynx_morphology | 1.91894480 |
| 14 | MP0001984_abnormal_olfaction | 1.67505243 |
| 15 | MP0003718_maternal_effect | 1.63902656 |
| 16 | MP0002138_abnormal_hepatobiliary_system | 1.62670603 |
| 17 | MP0004233_abnormal_muscle_weight | 1.61504303 |
| 18 | MP0002735_abnormal_chemical_nociception | 1.58964397 |
| 19 | MP0002160_abnormal_reproductive_system | 1.53041223 |
| 20 | MP0001963_abnormal_hearing_physiology | 1.49837366 |
| 21 | MP0003879_abnormal_hair_cell | 1.49036858 |
| 22 | MP0005551_abnormal_eye_electrophysiolog | 1.46754456 |
| 23 | MP0001968_abnormal_touch/_nociception | 1.43407863 |
| 24 | MP0004510_myositis | 1.43010345 |
| 25 | MP0004859_abnormal_synaptic_plasticity | 1.41011665 |
| 26 | MP0003136_yellow_coat_color | 1.40793344 |
| 27 | MP0004742_abnormal_vestibular_system | 1.39878887 |
| 28 | MP0002272_abnormal_nervous_system | 1.38941369 |
| 29 | MP0002282_abnormal_trachea_morphology | 1.37679559 |
| 30 | MP0003011_delayed_dark_adaptation | 1.32341520 |
| 31 | MP0002210_abnormal_sex_determination | 1.31992773 |
| 32 | MP0000516_abnormal_urinary_system | 1.28897899 |
| 33 | MP0005367_renal/urinary_system_phenotyp | 1.28897899 |
| 34 | MP0009046_muscle_twitch | 1.25621638 |
| 35 | MP0009745_abnormal_behavioral_response | 1.23871932 |
| 36 | MP0002733_abnormal_thermal_nociception | 1.21400446 |
| 37 | MP0000026_abnormal_inner_ear | 1.18454654 |
| 38 | MP0001145_abnormal_male_reproductive | 1.15354227 |
| 39 | MP0003635_abnormal_synaptic_transmissio | 1.13753184 |
| 40 | MP0000534_abnormal_ureter_morphology | 1.13249462 |
| 41 | MP0000049_abnormal_middle_ear | 1.12914761 |
| 42 | MP0003283_abnormal_digestive_organ | 1.12507045 |
| 43 | MP0001501_abnormal_sleep_pattern | 1.10713471 |
| 44 | MP0002229_neurodegeneration | 1.09361154 |
| 45 | MP0002067_abnormal_sensory_capabilities | 1.09352336 |
| 46 | MP0002928_abnormal_bile_duct | 1.08305509 |
| 47 | MP0005423_abnormal_somatic_nervous | 1.07823806 |
| 48 | MP0001905_abnormal_dopamine_level | 1.06477609 |
| 49 | MP0004085_abnormal_heartbeat | 1.05985605 |
| 50 | MP0000653_abnormal_sex_gland | 1.05371079 |
| 51 | MP0002572_abnormal_emotion/affect_behav | 1.05181562 |
| 52 | MP0002132_abnormal_respiratory_system | 1.02773963 |
| 53 | MP0001879_abnormal_lymphatic_vessel | 1.02658531 |
| 54 | MP0005084_abnormal_gallbladder_morpholo | 1.02345758 |
| 55 | MP0001970_abnormal_pain_threshold | 1.01297921 |
| 56 | MP0003880_abnormal_central_pattern | 1.00695640 |
| 57 | MP0000955_abnormal_spinal_cord | 0.99399591 |
| 58 | MP0005647_abnormal_sex_gland | 0.98677239 |
| 59 | MP0005253_abnormal_eye_physiology | 0.97640349 |
| 60 | MP0001765_abnormal_ion_homeostasis | 0.97503661 |
| 61 | MP0009053_abnormal_anal_canal | 0.95250332 |
| 62 | MP0003646_muscle_fatigue | 0.91487554 |
| 63 | MP0002127_abnormal_cardiovascular_syste | 0.89417414 |
| 64 | MP0002557_abnormal_social/conspecific_i | 0.85152562 |
| 65 | MP0005379_endocrine/exocrine_gland_phen | 0.85115293 |
| 66 | MP0002064_seizures | 0.84826331 |
| 67 | MP0003119_abnormal_digestive_system | 0.81456493 |
| 68 | MP0004885_abnormal_endolymph | 0.78775891 |
| 69 | MP0002734_abnormal_mechanical_nocicepti | 0.78494952 |
| 70 | MP0005395_other_phenotype | 0.77483160 |
| 71 | MP0005646_abnormal_pituitary_gland | 0.77074912 |
| 72 | MP0001270_distended_abdomen | 0.74307962 |
| 73 | MP0002184_abnormal_innervation | 0.73670879 |
| 74 | MP0000681_abnormal_thyroid_gland | 0.71580338 |
| 75 | MP0005310_abnormal_salivary_gland | 0.70857415 |
| 76 | MP0000372_irregular_coat_pigmentation | 0.70099658 |
| 77 | MP0000003_abnormal_adipose_tissue | 0.69452207 |
| 78 | MP0001299_abnormal_eye_distance/ | 0.68993349 |
| 79 | MP0000013_abnormal_adipose_tissue | 0.68853608 |
| 80 | MP0001545_abnormal_hematopoietic_system | 0.68361447 |
| 81 | MP0005397_hematopoietic_system_phenotyp | 0.68361447 |
| 82 | MP0005389_reproductive_system_phenotype | 0.67930432 |
| 83 | MP0008877_abnormal_DNA_methylation | 0.65878888 |
| 84 | MP0002752_abnormal_somatic_nervous | 0.65174781 |
| 85 | MP0004484_altered_response_of | 0.62107896 |
| 86 | MP0002063_abnormal_learning/memory/cond | 0.60038606 |
| 87 | MP0002882_abnormal_neuron_morphology | 0.58491134 |
| 88 | MP0006276_abnormal_autonomic_nervous | 0.58127871 |
| 89 | MP0003137_abnormal_impulse_conducting | 0.57669818 |
| 90 | MP0002822_catalepsy | 0.55783341 |
| 91 | MP0004270_analgesia | 0.55071886 |
| 92 | MP0005623_abnormal_meninges_morphology | 0.53028661 |
| 93 | MP0002269_muscular_atrophy | 0.52476810 |
| 94 | MP0005248_abnormal_Harderian_gland | 0.52357847 |
| 95 | MP0000762_abnormal_tongue_morphology | 0.49587357 |
| 96 | MP0005645_abnormal_hypothalamus_physiol | 0.49296355 |
| 97 | MP0005167_abnormal_blood-brain_barrier | 0.47283119 |
| 98 | MP0010368_abnormal_lymphatic_system | 0.47126212 |
| 99 | MP0008789_abnormal_olfactory_epithelium | 0.46863519 |
| 100 | MP0009780_abnormal_chondrocyte_physiolo | 0.46257701 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 7.12876337 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 5.58316600 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.58316600 |
| 4 | Abnormal ciliary motility (HP:0012262) | 5.16696144 |
| 5 | Abnormal respiratory motile cilium physiology (HP:0012261) | 5.03541111 |
| 6 | Chronic hepatic failure (HP:0100626) | 4.94538726 |
| 7 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.64975235 |
| 8 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.64975235 |
| 9 | Type 2 muscle fiber atrophy (HP:0003554) | 4.39778593 |
| 10 | Attenuation of retinal blood vessels (HP:0007843) | 4.26485964 |
| 11 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.23666557 |
| 12 | Muscle fiber atrophy (HP:0100295) | 4.12819733 |
| 13 | Generalized aminoaciduria (HP:0002909) | 4.12557267 |
| 14 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.08127021 |
| 15 | Infertility (HP:0000789) | 4.06206143 |
| 16 | Resting tremor (HP:0002322) | 4.03651507 |
| 17 | Abnormality of macular pigmentation (HP:0008002) | 3.67555343 |
| 18 | Menstrual irregularities (HP:0000858) | 3.55945399 |
| 19 | Male infertility (HP:0003251) | 3.53692617 |
| 20 | Sensory axonal neuropathy (HP:0003390) | 3.50091952 |
| 21 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.49655928 |
| 22 | Fatigable weakness (HP:0003473) | 3.46199435 |
| 23 | Abnormality of the neuromuscular junction (HP:0003398) | 3.46199435 |
| 24 | Tubulointerstitial nephritis (HP:0001970) | 3.45651355 |
| 25 | Hyperkalemia (HP:0002153) | 3.40441199 |
| 26 | Nasal polyposis (HP:0100582) | 3.40248859 |
| 27 | Cone-rod dystrophy (HP:0000548) | 3.35045084 |
| 28 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.18408065 |
| 29 | Abnormality of dental color (HP:0011073) | 3.14137571 |
| 30 | Asymmetric septal hypertrophy (HP:0001670) | 3.05286428 |
| 31 | Myokymia (HP:0002411) | 3.03021209 |
| 32 | Rhinitis (HP:0012384) | 2.98862070 |
| 33 | Abnormality of the nasal mucosa (HP:0000433) | 2.85243681 |
| 34 | Unilateral renal agenesis (HP:0000122) | 2.78957450 |
| 35 | Bell-shaped thorax (HP:0001591) | 2.70059983 |
| 36 | Pancreatic fibrosis (HP:0100732) | 2.68564371 |
| 37 | Pendular nystagmus (HP:0012043) | 2.63070024 |
| 38 | True hermaphroditism (HP:0010459) | 2.60486011 |
| 39 | Nephronophthisis (HP:0000090) | 2.53753609 |
| 40 | Postural instability (HP:0002172) | 2.53458883 |
| 41 | Glycosuria (HP:0003076) | 2.52609859 |
| 42 | Abnormality of urine glucose concentration (HP:0011016) | 2.52609859 |
| 43 | Recurrent corneal erosions (HP:0000495) | 2.50775596 |
| 44 | Hypoplastic ischia (HP:0003175) | 2.50007183 |
| 45 | Nonprogressive disorder (HP:0003680) | 2.49772574 |
| 46 | Congenital sensorineural hearing impairment (HP:0008527) | 2.49715648 |
| 47 | Facial shape deformation (HP:0011334) | 2.48237466 |
| 48 | Potter facies (HP:0002009) | 2.48237466 |
| 49 | Progressive cerebellar ataxia (HP:0002073) | 2.47969381 |
| 50 | Decreased central vision (HP:0007663) | 2.46285939 |
| 51 | Weak cry (HP:0001612) | 2.44404001 |
| 52 | Abnormality of the ischium (HP:0003174) | 2.38058921 |
| 53 | Optic nerve hypoplasia (HP:0000609) | 2.37201577 |
| 54 | Chronic bronchitis (HP:0004469) | 2.36641599 |
| 55 | Atonic seizures (HP:0010819) | 2.34769840 |
| 56 | Abnormal drinking behavior (HP:0030082) | 2.34060359 |
| 57 | Polydipsia (HP:0001959) | 2.34060359 |
| 58 | Pancreatic cysts (HP:0001737) | 2.32991594 |
| 59 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.29252438 |
| 60 | Sclerocornea (HP:0000647) | 2.24621651 |
| 61 | Hypoalphalipoproteinemia (HP:0003233) | 2.21743843 |
| 62 | Bronchiectasis (HP:0002110) | 2.20055814 |
| 63 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 2.19563149 |
| 64 | Abnormal urine output (HP:0012590) | 2.17471979 |
| 65 | Amelogenesis imperfecta (HP:0000705) | 2.17096061 |
| 66 | Occipital encephalocele (HP:0002085) | 2.16999815 |
| 67 | Renal dysplasia (HP:0000110) | 2.16617531 |
| 68 | Popliteal pterygium (HP:0009756) | 2.16576469 |
| 69 | Abnormal spermatogenesis (HP:0008669) | 2.14202515 |
| 70 | Proximal tubulopathy (HP:0000114) | 2.12690537 |
| 71 | Cystic liver disease (HP:0006706) | 2.10407738 |
| 72 | Abnormality of the renal medulla (HP:0100957) | 2.06873131 |
| 73 | Gonadotropin excess (HP:0000837) | 2.06041809 |
| 74 | Renal Fanconi syndrome (HP:0001994) | 2.03429311 |
| 75 | Osteomalacia (HP:0002749) | 2.01505076 |
| 76 | Abnormality of potassium homeostasis (HP:0011042) | 2.01238426 |
| 77 | Enlarged epiphyses (HP:0010580) | 2.00214314 |
| 78 | Azoospermia (HP:0000027) | 1.99472193 |
| 79 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 1.99396186 |
| 80 | Easy fatigability (HP:0003388) | 1.96394199 |
| 81 | Anencephaly (HP:0002323) | 1.94229000 |
| 82 | Polyuria (HP:0000103) | 1.91935153 |
| 83 | Stage 5 chronic kidney disease (HP:0003774) | 1.90657556 |
| 84 | Median cleft lip (HP:0000161) | 1.89479585 |
| 85 | Truncal obesity (HP:0001956) | 1.86627524 |
| 86 | Abnormality of renal excretion (HP:0011036) | 1.85758141 |
| 87 | Portal hypertension (HP:0001409) | 1.83576550 |
| 88 | Progressive sensorineural hearing impairment (HP:0000408) | 1.82624401 |
| 89 | Impulsivity (HP:0100710) | 1.81877330 |
| 90 | Intellectual disability, moderate (HP:0002342) | 1.77112026 |
| 91 | Congenital hepatic fibrosis (HP:0002612) | 1.76899912 |
| 92 | Fetal akinesia sequence (HP:0001989) | 1.75949864 |
| 93 | Esophageal atresia (HP:0002032) | 1.75703797 |
| 94 | Abolished electroretinogram (ERG) (HP:0000550) | 1.74853202 |
| 95 | Abnormality of the frontal sinuses (HP:0002687) | 1.74707788 |
| 96 | Amblyopia (HP:0000646) | 1.74381688 |
| 97 | Amniotic constriction ring (HP:0009775) | 1.73249259 |
| 98 | Abnormality of placental membranes (HP:0011409) | 1.73249259 |
| 99 | Male pseudohermaphroditism (HP:0000037) | 1.72980987 |
| 100 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 1.71901205 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 7.28954314 |
| 2 | TESK1 | 4.40007162 |
| 3 | MAPK15 | 3.64788133 |
| 4 | INSRR | 3.00996294 |
| 5 | DDR2 | 2.93481438 |
| 6 | PLK2 | 2.90246295 |
| 7 | PINK1 | 2.88685079 |
| 8 | PRKD3 | 2.68014867 |
| 9 | TSSK6 | 2.56825518 |
| 10 | PNCK | 2.40056118 |
| 11 | MAP4K2 | 2.39380750 |
| 12 | BRD4 | 2.25830165 |
| 13 | STK38 | 2.25768344 |
| 14 | FRK | 2.17409811 |
| 15 | STK16 | 1.94564619 |
| 16 | STK38L | 1.74673164 |
| 17 | BMPR1B | 1.67473529 |
| 18 | CAMK1G | 1.66132193 |
| 19 | WNK1 | 1.45411830 |
| 20 | TLK1 | 1.31379225 |
| 21 | FGFR2 | 1.27359422 |
| 22 | MUSK | 1.26261095 |
| 23 | PDK1 | 1.25787053 |
| 24 | CDK19 | 1.22022007 |
| 25 | CAMKK2 | 1.21638539 |
| 26 | PDPK1 | 1.18646265 |
| 27 | CDK3 | 1.10520037 |
| 28 | PTK2B | 1.07008000 |
| 29 | PIK3CG | 1.03017509 |
| 30 | PRKCG | 1.02958384 |
| 31 | LATS2 | 0.96814861 |
| 32 | PRKCH | 0.93950183 |
| 33 | TYRO3 | 0.91661558 |
| 34 | ADRBK2 | 0.91476642 |
| 35 | MARK3 | 0.86124874 |
| 36 | TAOK3 | 0.85378905 |
| 37 | UHMK1 | 0.81969033 |
| 38 | TRIM28 | 0.80860773 |
| 39 | NEK6 | 0.80255263 |
| 40 | STK39 | 0.79191274 |
| 41 | MST1R | 0.77586334 |
| 42 | CAMK1 | 0.76279354 |
| 43 | MAPK13 | 0.72826520 |
| 44 | TIE1 | 0.72298033 |
| 45 | ERBB3 | 0.71249547 |
| 46 | SGK494 | 0.68143075 |
| 47 | SGK223 | 0.68143075 |
| 48 | DYRK1B | 0.66526538 |
| 49 | PDK2 | 0.65256534 |
| 50 | IRAK2 | 0.65160438 |
| 51 | CDK7 | 0.64401865 |
| 52 | CASK | 0.63369530 |
| 53 | CAMK1D | 0.63107090 |
| 54 | MINK1 | 0.61987401 |
| 55 | MAPKAPK5 | 0.61179792 |
| 56 | NTRK2 | 0.60146163 |
| 57 | CAMK4 | 0.59150801 |
| 58 | CDK12 | 0.56343002 |
| 59 | PRKCE | 0.56037848 |
| 60 | GRK1 | 0.54120264 |
| 61 | PRKG2 | 0.53687914 |
| 62 | PRKCZ | 0.52195073 |
| 63 | DAPK2 | 0.51814283 |
| 64 | TNIK | 0.51753554 |
| 65 | PRKD2 | 0.51520471 |
| 66 | OXSR1 | 0.51076475 |
| 67 | MKNK2 | 0.50402442 |
| 68 | WNK4 | 0.48567948 |
| 69 | PRKG1 | 0.46923215 |
| 70 | CAMK2A | 0.46162246 |
| 71 | SGK2 | 0.45250464 |
| 72 | PRKAA2 | 0.42612956 |
| 73 | MAP3K9 | 0.42511772 |
| 74 | NTRK3 | 0.41956922 |
| 75 | RPS6KA1 | 0.41815581 |
| 76 | MARK1 | 0.40692812 |
| 77 | MYLK | 0.38819190 |
| 78 | DYRK3 | 0.38637862 |
| 79 | VRK1 | 0.38334714 |
| 80 | RPS6KA5 | 0.35431249 |
| 81 | GRK5 | 0.33727252 |
| 82 | ARAF | 0.30826856 |
| 83 | GSK3B | 0.29202794 |
| 84 | SGK3 | 0.28926993 |
| 85 | EPHA4 | 0.27067609 |
| 86 | PRKACA | 0.25958854 |
| 87 | MAPK10 | 0.24813674 |
| 88 | PIK3CA | 0.24752640 |
| 89 | SGK1 | 0.24618897 |
| 90 | MAPK1 | 0.24441197 |
| 91 | CSNK1G1 | 0.24253398 |
| 92 | PRKCB | 0.23501586 |
| 93 | CDK5 | 0.23381134 |
| 94 | ROCK1 | 0.23295020 |
| 95 | GRK7 | 0.23041279 |
| 96 | MAPK8 | 0.22932039 |
| 97 | CAMKK1 | 0.21468147 |
| 98 | PRKCQ | 0.21340367 |
| 99 | CSNK1G2 | 0.20399275 |
| 100 | MAP3K2 | 0.19815019 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 6.18317438 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 3.92288379 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.45500116 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 3.25730236 |
| 5 | Taste transduction_Homo sapiens_hsa04742 | 2.77383589 |
| 6 | Nicotine addiction_Homo sapiens_hsa05033 | 2.67392710 |
| 7 | Morphine addiction_Homo sapiens_hsa05032 | 1.95367917 |
| 8 | Phototransduction_Homo sapiens_hsa04744 | 1.82803499 |
| 9 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.79846170 |
| 10 | GABAergic synapse_Homo sapiens_hsa04727 | 1.66788084 |
| 11 | Renin-angiotensin system_Homo sapiens_hsa04614 | 1.66659131 |
| 12 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.54876772 |
| 13 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.49347224 |
| 14 | Circadian entrainment_Homo sapiens_hsa04713 | 1.44574730 |
| 15 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.42635445 |
| 16 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.40292712 |
| 17 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.39022292 |
| 18 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.28775429 |
| 19 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.26693536 |
| 20 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 1.25646405 |
| 21 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 1.24255540 |
| 22 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.23895158 |
| 23 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.22850190 |
| 24 | Retinol metabolism_Homo sapiens_hsa00830 | 1.21547116 |
| 25 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 1.20477531 |
| 26 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.19008937 |
| 27 | Salivary secretion_Homo sapiens_hsa04970 | 1.18756412 |
| 28 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.18101116 |
| 29 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.17839571 |
| 30 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.17163192 |
| 31 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.13595904 |
| 32 | cAMP signaling pathway_Homo sapiens_hsa04024 | 1.11862564 |
| 33 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.11768359 |
| 34 | Cocaine addiction_Homo sapiens_hsa05030 | 1.10668496 |
| 35 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.10079032 |
| 36 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.07688846 |
| 37 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.07592283 |
| 38 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.05480748 |
| 39 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.05085852 |
| 40 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.04588241 |
| 41 | Renin secretion_Homo sapiens_hsa04924 | 1.01924069 |
| 42 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.98687701 |
| 43 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.98255882 |
| 44 | Gap junction_Homo sapiens_hsa04540 | 0.96906516 |
| 45 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.96809501 |
| 46 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.94344208 |
| 47 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.91515293 |
| 48 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.90711507 |
| 49 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.88275202 |
| 50 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.87512916 |
| 51 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.87411945 |
| 52 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.85484340 |
| 53 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.85345299 |
| 54 | Sulfur relay system_Homo sapiens_hsa04122 | 0.85117067 |
| 55 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.82282713 |
| 56 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.81556952 |
| 57 | Insulin secretion_Homo sapiens_hsa04911 | 0.80999919 |
| 58 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.80750932 |
| 59 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.80071153 |
| 60 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.79815427 |
| 61 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.79690073 |
| 62 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.78205931 |
| 63 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.77141037 |
| 64 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.75402063 |
| 65 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.73983438 |
| 66 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.70600497 |
| 67 | RNA transport_Homo sapiens_hsa03013 | 0.66190190 |
| 68 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.64578436 |
| 69 | Alcoholism_Homo sapiens_hsa05034 | 0.63987057 |
| 70 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.63330024 |
| 71 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.62917139 |
| 72 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.60362113 |
| 73 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.60038394 |
| 74 | Long-term potentiation_Homo sapiens_hsa04720 | 0.57692147 |
| 75 | Circadian rhythm_Homo sapiens_hsa04710 | 0.53248542 |
| 76 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.52532313 |
| 77 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.50554175 |
| 78 | Endocytosis_Homo sapiens_hsa04144 | 0.48741091 |
| 79 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.45940649 |
| 80 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.44532227 |
| 81 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.44514734 |
| 82 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.44161644 |
| 83 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.44037117 |
| 84 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.44017312 |
| 85 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.40073355 |
| 86 | ABC transporters_Homo sapiens_hsa02010 | 0.40056436 |
| 87 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.39783678 |
| 88 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.39617023 |
| 89 | Allograft rejection_Homo sapiens_hsa05330 | 0.39575447 |
| 90 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.38688290 |
| 91 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.38572714 |
| 92 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.37082890 |
| 93 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.36139484 |
| 94 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.34868748 |
| 95 | Tight junction_Homo sapiens_hsa04530 | 0.34301170 |
| 96 | Bile secretion_Homo sapiens_hsa04976 | 0.34295837 |
| 97 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.33962510 |
| 98 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.32827362 |
| 99 | Purine metabolism_Homo sapiens_hsa00230 | 0.30255974 |
| 100 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.25968625 |

