

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | protein polyglutamylation (GO:0018095) | 9.79647908 |
| 2 | sperm motility (GO:0030317) | 9.69777000 |
| 3 | protein targeting to Golgi (GO:0000042) | 8.14163834 |
| 4 | establishment of protein localization to Golgi (GO:0072600) | 7.81531008 |
| 5 | fusion of sperm to egg plasma membrane (GO:0007342) | 7.63301485 |
| 6 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 7.62400843 |
| 7 | acrosome reaction (GO:0007340) | 7.20530184 |
| 8 | single strand break repair (GO:0000012) | 6.96736006 |
| 9 | response to pheromone (GO:0019236) | 6.95759754 |
| 10 | rRNA methylation (GO:0031167) | 6.79072147 |
| 11 | microtubule depolymerization (GO:0007019) | 6.71662881 |
| 12 | centriole replication (GO:0007099) | 6.49009306 |
| 13 | chromosome condensation (GO:0030261) | 6.42343519 |
| 14 | DNA packaging (GO:0006323) | 6.21868620 |
| 15 | microtubule polymerization or depolymerization (GO:0031109) | 6.13459589 |
| 16 | protein localization to Golgi apparatus (GO:0034067) | 6.07976725 |
| 17 | regulation of centriole replication (GO:0046599) | 5.95719938 |
| 18 | epithelial cilium movement (GO:0003351) | 5.82674723 |
| 19 | microtubule nucleation (GO:0007020) | 5.78111021 |
| 20 | plasma membrane fusion (GO:0045026) | 5.68384930 |
| 21 | sperm capacitation (GO:0048240) | 5.61166370 |
| 22 | spermatid nucleus differentiation (GO:0007289) | 5.59647849 |
| 23 | seminiferous tubule development (GO:0072520) | 5.56076626 |
| 24 | centriole assembly (GO:0098534) | 5.44823477 |
| 25 | regulation of cilium movement (GO:0003352) | 5.43971256 |
| 26 | axonemal dynein complex assembly (GO:0070286) | 5.34813143 |
| 27 | rRNA modification (GO:0000154) | 5.32678802 |
| 28 | spermatid development (GO:0007286) | 5.28129947 |
| 29 | spermatogenesis (GO:0007283) | 5.12697187 |
| 30 | male gamete generation (GO:0048232) | 5.11010663 |
| 31 | motile cilium assembly (GO:0044458) | 5.06260283 |
| 32 | sperm-egg recognition (GO:0035036) | 5.04321408 |
| 33 | glomerular visceral epithelial cell development (GO:0072015) | 4.98129383 |
| 34 | nuclear pore complex assembly (GO:0051292) | 4.92624546 |
| 35 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.80057493 |
| 36 | gamete generation (GO:0007276) | 4.76497272 |
| 37 | cilium movement (GO:0003341) | 4.75437482 |
| 38 | multicellular organism reproduction (GO:0032504) | 4.63964975 |
| 39 | RNA destabilization (GO:0050779) | 4.60698760 |
| 40 | glomerular epithelial cell development (GO:0072310) | 4.58358369 |
| 41 | binding of sperm to zona pellucida (GO:0007339) | 4.52967748 |
| 42 | single fertilization (GO:0007338) | 4.40203215 |
| 43 | reproduction (GO:0000003) | 4.27931793 |
| 44 | fertilization (GO:0009566) | 4.25148627 |
| 45 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 4.24916943 |
| 46 | axoneme assembly (GO:0035082) | 4.24471337 |
| 47 | cell wall macromolecule catabolic process (GO:0016998) | 4.14136091 |
| 48 | cell-cell recognition (GO:0009988) | 4.09271774 |
| 49 | nuclear pore organization (GO:0006999) | 4.08937964 |
| 50 | phosphatidylethanolamine metabolic process (GO:0046337) | 4.02395023 |
| 51 | sexual reproduction (GO:0019953) | 3.97196448 |
| 52 | calcium ion-dependent exocytosis (GO:0017156) | 3.88475307 |
| 53 | microtubule severing (GO:0051013) | 3.87374574 |
| 54 | intra-Golgi vesicle-mediated transport (GO:0006891) | 3.86168828 |
| 55 | pore complex assembly (GO:0046931) | 3.78915478 |
| 56 | glycerol ether metabolic process (GO:0006662) | 3.78291175 |
| 57 | cell wall macromolecule metabolic process (GO:0044036) | 3.77804173 |
| 58 | RNA localization (GO:0006403) | 3.71162605 |
| 59 | negative regulation of axon guidance (GO:1902668) | 3.69680596 |
| 60 | C4-dicarboxylate transport (GO:0015740) | 3.69678436 |
| 61 | multicellular organismal reproductive process (GO:0048609) | 3.68287089 |
| 62 | pyrimidine dimer repair (GO:0006290) | 3.65795877 |
| 63 | ventricular system development (GO:0021591) | 3.65541533 |
| 64 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.60142594 |
| 65 | ether metabolic process (GO:0018904) | 3.52458816 |
| 66 | histone mRNA catabolic process (GO:0071044) | 3.45693205 |
| 67 | multicellular organismal movement (GO:0050879) | 3.39920176 |
| 68 | musculoskeletal movement (GO:0050881) | 3.39920176 |
| 69 | nucleus organization (GO:0006997) | 3.30077894 |
| 70 | cilium organization (GO:0044782) | 3.26069115 |
| 71 | cilium assembly (GO:0042384) | 3.24552782 |
| 72 | regulation of microtubule-based movement (GO:0060632) | 3.24003533 |
| 73 | regulation of Rab GTPase activity (GO:0032313) | 3.22588200 |
| 74 | positive regulation of Rab GTPase activity (GO:0032851) | 3.22588200 |
| 75 | piRNA metabolic process (GO:0034587) | 3.22319535 |
| 76 | chromatin silencing (GO:0006342) | 3.03592421 |
| 77 | DNA methylation involved in gamete generation (GO:0043046) | 3.02802484 |
| 78 | protein K48-linked deubiquitination (GO:0071108) | 3.01609945 |
| 79 | germ cell development (GO:0007281) | 2.99095531 |
| 80 | histone H3-K9 demethylation (GO:0033169) | 2.98582321 |
| 81 | tRNA methylation (GO:0030488) | 2.97663866 |
| 82 | cerebral cortex neuron differentiation (GO:0021895) | 2.96139733 |
| 83 | glycolytic process (GO:0006096) | 2.95199629 |
| 84 | positive regulation of mitochondrial fission (GO:0090141) | 2.91384255 |
| 85 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 2.88473089 |
| 86 | RNA methylation (GO:0001510) | 2.86703609 |
| 87 | regulation of centrosome duplication (GO:0010824) | 2.84689387 |
| 88 | peptidyl-glutamic acid modification (GO:0018200) | 2.81015809 |
| 89 | regulation of DNA endoreduplication (GO:0032875) | 2.73036458 |
| 90 | cellular ketone body metabolic process (GO:0046950) | 2.72298550 |
| 91 | response to misfolded protein (GO:0051788) | 2.68424765 |
| 92 | synapsis (GO:0007129) | 2.68015126 |
| 93 | coenzyme catabolic process (GO:0009109) | 2.64565750 |
| 94 | microtubule bundle formation (GO:0001578) | 2.58969509 |
| 95 | negative regulation of calcium ion-dependent exocytosis (GO:0045955) | 2.57875782 |
| 96 | cellular response to exogenous dsRNA (GO:0071360) | 2.54831301 |
| 97 | male meiosis (GO:0007140) | 2.50468671 |
| 98 | resolution of meiotic recombination intermediates (GO:0000712) | 2.49861327 |
| 99 | nucleosome disassembly (GO:0006337) | 2.48523421 |
| 100 | protein-DNA complex disassembly (GO:0032986) | 2.48523421 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 4.74342600 |
| 2 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 3.26659776 |
| 3 | ZNF274_21170338_ChIP-Seq_K562_Hela | 3.25960946 |
| 4 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.03772954 |
| 5 | FUS_26573619_Chip-Seq_HEK293_Human | 2.78015988 |
| 6 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.63682886 |
| 7 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.59643026 |
| 8 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.44447479 |
| 9 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.43452003 |
| 10 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.36232436 |
| 11 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.36232436 |
| 12 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.29589205 |
| 13 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.27990708 |
| 14 | ER_23166858_ChIP-Seq_MCF-7_Human | 2.23369942 |
| 15 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.86268389 |
| 16 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.85654199 |
| 17 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.78985408 |
| 18 | P300_19829295_ChIP-Seq_ESCs_Human | 1.78146403 |
| 19 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.78056329 |
| 20 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.76872901 |
| 21 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.74820091 |
| 22 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.73482810 |
| 23 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.73482810 |
| 24 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.71343848 |
| 25 | STAT3_23295773_ChIP-Seq_U87_Human | 1.70740849 |
| 26 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.69682160 |
| 27 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.69219837 |
| 28 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.61958464 |
| 29 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.57147080 |
| 30 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.54768184 |
| 31 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.48106219 |
| 32 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.46885398 |
| 33 | AR_25329375_ChIP-Seq_VCAP_Human | 1.43715552 |
| 34 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 1.43466949 |
| 35 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.43090663 |
| 36 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.42022452 |
| 37 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.41737664 |
| 38 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.40929002 |
| 39 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.40645614 |
| 40 | NFYB_21822215_ChIP-Seq_K562_Human | 1.39862843 |
| 41 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.39399980 |
| 42 | SALL4_22934838_ChIP-ChIP_CD34+_Human | 1.39329630 |
| 43 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.38573265 |
| 44 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.36907865 |
| 45 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.35975511 |
| 46 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 1.35247254 |
| 47 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.33764022 |
| 48 | ERA_21632823_ChIP-Seq_H3396_Human | 1.33705111 |
| 49 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.33514422 |
| 50 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.33308228 |
| 51 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.32241659 |
| 52 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.32032124 |
| 53 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.30562315 |
| 54 | TBL1_22424771_ChIP-Seq_293T_Human | 1.30204270 |
| 55 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.29567779 |
| 56 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.28515530 |
| 57 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.28120791 |
| 58 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.27314745 |
| 59 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.26864112 |
| 60 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.26563488 |
| 61 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.25567607 |
| 62 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.25408586 |
| 63 | TCF4_23295773_ChIP-Seq_U87_Human | 1.25084029 |
| 64 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.24875888 |
| 65 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.24378068 |
| 66 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.23565967 |
| 67 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.23560624 |
| 68 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.20563764 |
| 69 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.19354077 |
| 70 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.19156902 |
| 71 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.18943085 |
| 72 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.17989934 |
| 73 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.16808687 |
| 74 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.14166392 |
| 75 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.12685993 |
| 76 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.11935028 |
| 77 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.08376048 |
| 78 | NFYA_21822215_ChIP-Seq_K562_Human | 1.07852945 |
| 79 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.07188611 |
| 80 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.07188611 |
| 81 | NCOR_22424771_ChIP-Seq_293T_Human | 1.07035467 |
| 82 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.06729572 |
| 83 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.05850803 |
| 84 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.03829151 |
| 85 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.03793867 |
| 86 | SOX9_26525672_Chip-Seq_HEART_Mouse | 1.02481628 |
| 87 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.02312786 |
| 88 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.02164373 |
| 89 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 1.02150010 |
| 90 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 1.00861863 |
| 91 | JUN_21703547_ChIP-Seq_K562_Human | 0.98573274 |
| 92 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 0.97840386 |
| 93 | LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.97814419 |
| 94 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 0.96030606 |
| 95 | AHR_22903824_ChIP-Seq_MCF-7_Human | 0.95091128 |
| 96 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 0.95070100 |
| 97 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 0.94891264 |
| 98 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 0.94284046 |
| 99 | TP53_22573176_ChIP-Seq_HFKS_Human | 0.94204141 |
| 100 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.94192587 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 7.29008206 |
| 2 | MP0003878_abnormal_ear_physiology | 3.96999755 |
| 3 | MP0005377_hearing/vestibular/ear_phenot | 3.96999755 |
| 4 | MP0003698_abnormal_male_reproductive | 3.09319821 |
| 5 | MP0005379_endocrine/exocrine_gland_phen | 2.94833172 |
| 6 | MP0001929_abnormal_gametogenesis | 2.73981328 |
| 7 | MP0001348_abnormal_lacrimal_gland | 2.72699196 |
| 8 | MP0005253_abnormal_eye_physiology | 2.40789115 |
| 9 | MP0001529_abnormal_vocalization | 2.29002140 |
| 10 | MP0001984_abnormal_olfaction | 2.26172046 |
| 11 | MP0005451_abnormal_body_composition | 2.25971761 |
| 12 | MP0001485_abnormal_pinna_reflex | 2.16705240 |
| 13 | MP0002282_abnormal_trachea_morphology | 2.13206592 |
| 14 | MP0003718_maternal_effect | 1.95226685 |
| 15 | MP0003880_abnormal_central_pattern | 1.94487234 |
| 16 | MP0005551_abnormal_eye_electrophysiolog | 1.87962157 |
| 17 | MP0001486_abnormal_startle_reflex | 1.82190343 |
| 18 | MP0008789_abnormal_olfactory_epithelium | 1.81319706 |
| 19 | MP0008872_abnormal_physiological_respon | 1.77647148 |
| 20 | MP0002161_abnormal_fertility/fecundity | 1.71516906 |
| 21 | MP0002102_abnormal_ear_morphology | 1.67038380 |
| 22 | MP0002163_abnormal_gland_morphology | 1.59386777 |
| 23 | MP0005670_abnormal_white_adipose | 1.56108133 |
| 24 | MP0003011_delayed_dark_adaptation | 1.53950337 |
| 25 | MP0005394_taste/olfaction_phenotype | 1.52377708 |
| 26 | MP0005499_abnormal_olfactory_system | 1.52377708 |
| 27 | MP0003646_muscle_fatigue | 1.51237100 |
| 28 | MP0005248_abnormal_Harderian_gland | 1.46705665 |
| 29 | MP0005083_abnormal_biliary_tract | 1.44279062 |
| 30 | MP0004742_abnormal_vestibular_system | 1.43331297 |
| 31 | MP0006276_abnormal_autonomic_nervous | 1.41852803 |
| 32 | MP0002210_abnormal_sex_determination | 1.41116755 |
| 33 | MP0008058_abnormal_DNA_repair | 1.35938024 |
| 34 | MP0002090_abnormal_vision | 1.31449829 |
| 35 | MP0002928_abnormal_bile_duct | 1.28720260 |
| 36 | MP0003879_abnormal_hair_cell | 1.26045912 |
| 37 | MP0000569_abnormal_digit_pigmentation | 1.24693484 |
| 38 | MP0001145_abnormal_male_reproductive | 1.24122363 |
| 39 | MP0002160_abnormal_reproductive_system | 1.24002996 |
| 40 | MP0001963_abnormal_hearing_physiology | 1.22080466 |
| 41 | MP0005423_abnormal_somatic_nervous | 1.21864174 |
| 42 | MP0002132_abnormal_respiratory_system | 1.19961367 |
| 43 | MP0008877_abnormal_DNA_methylation | 1.18809166 |
| 44 | MP0000613_abnormal_salivary_gland | 1.16262210 |
| 45 | MP0000653_abnormal_sex_gland | 1.13580762 |
| 46 | MP0005391_vision/eye_phenotype | 1.12592781 |
| 47 | MP0003137_abnormal_impulse_conducting | 1.10035048 |
| 48 | MP0002229_neurodegeneration | 1.09496079 |
| 49 | MP0000678_abnormal_parathyroid_gland | 1.08304732 |
| 50 | MP0004043_abnormal_pH_regulation | 1.08196297 |
| 51 | MP0006072_abnormal_retinal_apoptosis | 1.06830735 |
| 52 | MP0003656_abnormal_erythrocyte_physiolo | 1.04113794 |
| 53 | MP0001764_abnormal_homeostasis | 1.01370250 |
| 54 | MP0002557_abnormal_social/conspecific_i | 0.98795977 |
| 55 | MP0001905_abnormal_dopamine_level | 0.98732758 |
| 56 | MP0002638_abnormal_pupillary_reflex | 0.98485734 |
| 57 | MP0000372_irregular_coat_pigmentation | 0.95830311 |
| 58 | MP0005332_abnormal_amino_acid | 0.95226353 |
| 59 | MP0005084_abnormal_gallbladder_morpholo | 0.95133240 |
| 60 | MP0002653_abnormal_ependyma_morphology | 0.94834847 |
| 61 | MP0009053_abnormal_anal_canal | 0.92917685 |
| 62 | MP0010094_abnormal_chromosome_stability | 0.92277987 |
| 63 | MP0005395_other_phenotype | 0.91785439 |
| 64 | MP0008007_abnormal_cellular_replicative | 0.90469402 |
| 65 | MP0004859_abnormal_synaptic_plasticity | 0.87647382 |
| 66 | MP0005310_abnormal_salivary_gland | 0.84243193 |
| 67 | MP0004924_abnormal_behavior | 0.82462094 |
| 68 | MP0005386_behavior/neurological_phenoty | 0.82462094 |
| 69 | MP0002234_abnormal_pharynx_morphology | 0.79651948 |
| 70 | MP0001765_abnormal_ion_homeostasis | 0.79511474 |
| 71 | MP0000955_abnormal_spinal_cord | 0.78055793 |
| 72 | MP0009780_abnormal_chondrocyte_physiolo | 0.77973880 |
| 73 | MP0005367_renal/urinary_system_phenotyp | 0.77677294 |
| 74 | MP0000516_abnormal_urinary_system | 0.77677294 |
| 75 | MP0009697_abnormal_copulation | 0.75446033 |
| 76 | MP0003077_abnormal_cell_cycle | 0.75170202 |
| 77 | MP0000778_abnormal_nervous_system | 0.74671558 |
| 78 | MP0000427_abnormal_hair_cycle | 0.72648985 |
| 79 | MP0002295_abnormal_pulmonary_circulatio | 0.71946926 |
| 80 | MP0002067_abnormal_sensory_capabilities | 0.71467778 |
| 81 | MP0000026_abnormal_inner_ear | 0.71329455 |
| 82 | MP0003329_amyloid_beta_deposits | 0.71107172 |
| 83 | MP0004233_abnormal_muscle_weight | 0.70218712 |
| 84 | MP0009745_abnormal_behavioral_response | 0.69856969 |
| 85 | MP0002736_abnormal_nociception_after | 0.68109432 |
| 86 | MP0009115_abnormal_fat_cell | 0.67333297 |
| 87 | MP0000538_abnormal_urinary_bladder | 0.67316713 |
| 88 | MP0008569_lethality_at_weaning | 0.67233967 |
| 89 | MP0004085_abnormal_heartbeat | 0.66498795 |
| 90 | MP0002572_abnormal_emotion/affect_behav | 0.65875435 |
| 91 | MP0002127_abnormal_cardiovascular_syste | 0.65038703 |
| 92 | MP0008775_abnormal_heart_ventricle | 0.64649513 |
| 93 | MP0006054_spinal_hemorrhage | 0.63272753 |
| 94 | MP0004145_abnormal_muscle_electrophysio | 0.60375521 |
| 95 | MP0001270_distended_abdomen | 0.60345149 |
| 96 | MP0005389_reproductive_system_phenotype | 0.59060732 |
| 97 | MP0003786_premature_aging | 0.57740048 |
| 98 | MP0003633_abnormal_nervous_system | 0.57265516 |
| 99 | MP0005636_abnormal_mineral_homeostasis | 0.56167437 |
| 100 | MP0002822_catalepsy | 0.56014436 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Tubulointerstitial nephritis (HP:0001970) | 6.24345977 |
| 2 | Chronic hepatic failure (HP:0100626) | 5.80109344 |
| 3 | Hypoplasia of the thymus (HP:0000778) | 5.12835949 |
| 4 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.04161997 |
| 5 | Absent/shortened dynein arms (HP:0200106) | 5.04161997 |
| 6 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.73644899 |
| 7 | Male infertility (HP:0003251) | 4.40318631 |
| 8 | Abnormal gallbladder physiology (HP:0012438) | 4.15802471 |
| 9 | Cholecystitis (HP:0001082) | 4.15802471 |
| 10 | Abnormal respiratory motile cilium physiology (HP:0012261) | 3.96580574 |
| 11 | Pancreatic cysts (HP:0001737) | 3.96317068 |
| 12 | Pancreatic fibrosis (HP:0100732) | 3.83078962 |
| 13 | Abnormal ciliary motility (HP:0012262) | 3.82024080 |
| 14 | True hermaphroditism (HP:0010459) | 3.75624537 |
| 15 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.66995233 |
| 16 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.66995233 |
| 17 | Menstrual irregularities (HP:0000858) | 3.46833920 |
| 18 | Nephronophthisis (HP:0000090) | 3.37405421 |
| 19 | Severe visual impairment (HP:0001141) | 3.36076387 |
| 20 | Tubulointerstitial abnormality (HP:0001969) | 3.35208773 |
| 21 | Cone-rod dystrophy (HP:0000548) | 3.33987306 |
| 22 | Hypoalphalipoproteinemia (HP:0003233) | 3.28258523 |
| 23 | Progressive cerebellar ataxia (HP:0002073) | 3.15556385 |
| 24 | Nasal polyposis (HP:0100582) | 3.15466831 |
| 25 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.09832287 |
| 26 | Hypoplastic pelvis (HP:0008839) | 3.07521778 |
| 27 | Attenuation of retinal blood vessels (HP:0007843) | 3.07199670 |
| 28 | Asymmetric septal hypertrophy (HP:0001670) | 3.02710987 |
| 29 | Hypoalbuminemia (HP:0003073) | 3.00514267 |
| 30 | Abnormal albumin level (HP:0012116) | 3.00514267 |
| 31 | Hypophosphatemic rickets (HP:0004912) | 2.91487688 |
| 32 | Abnormality of dental color (HP:0011073) | 2.90499369 |
| 33 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 2.81060561 |
| 34 | Rhinitis (HP:0012384) | 2.78657343 |
| 35 | Abnormality of the renal medulla (HP:0100957) | 2.72436707 |
| 36 | Amelogenesis imperfecta (HP:0000705) | 2.72246039 |
| 37 | Hyperkalemia (HP:0002153) | 2.70990164 |
| 38 | Cystic liver disease (HP:0006706) | 2.68224226 |
| 39 | Stage 5 chronic kidney disease (HP:0003774) | 2.67912663 |
| 40 | Severe combined immunodeficiency (HP:0004430) | 2.64027591 |
| 41 | Portal hypertension (HP:0001409) | 2.61038639 |
| 42 | Infertility (HP:0000789) | 2.58508502 |
| 43 | Abnormality of macular pigmentation (HP:0008002) | 2.57362231 |
| 44 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.55003358 |
| 45 | Abnormality of the renal cortex (HP:0011035) | 2.38936366 |
| 46 | Abnormality of the hepatic vasculature (HP:0006707) | 2.33541637 |
| 47 | Cholelithiasis (HP:0001081) | 2.32877272 |
| 48 | Occipital encephalocele (HP:0002085) | 2.31017922 |
| 49 | Impulsivity (HP:0100710) | 2.28617066 |
| 50 | Pendular nystagmus (HP:0012043) | 2.23673756 |
| 51 | Abnormality of the nasal mucosa (HP:0000433) | 2.22941709 |
| 52 | Renovascular hypertension (HP:0100817) | 2.21573236 |
| 53 | Truncal obesity (HP:0001956) | 2.19173215 |
| 54 | Thyroiditis (HP:0100646) | 2.16803501 |
| 55 | Congenital hepatic fibrosis (HP:0002612) | 2.16369473 |
| 56 | Renal cortical cysts (HP:0000803) | 2.15400165 |
| 57 | Abnormal spermatogenesis (HP:0008669) | 2.12683336 |
| 58 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 2.11225875 |
| 59 | Anencephaly (HP:0002323) | 2.08467847 |
| 60 | Combined immunodeficiency (HP:0005387) | 2.06752833 |
| 61 | Abnormal gallbladder morphology (HP:0012437) | 2.05197262 |
| 62 | Tubular atrophy (HP:0000092) | 2.04131871 |
| 63 | Bronchiectasis (HP:0002110) | 2.03342149 |
| 64 | Postural instability (HP:0002172) | 2.02492059 |
| 65 | Resting tremor (HP:0002322) | 2.01218170 |
| 66 | Reticulocytosis (HP:0001923) | 2.00949082 |
| 67 | Fibular aplasia (HP:0002990) | 2.00079514 |
| 68 | Postaxial foot polydactyly (HP:0001830) | 1.98877943 |
| 69 | Mesomelia (HP:0003027) | 1.97175681 |
| 70 | Horizontal nystagmus (HP:0000666) | 1.95515052 |
| 71 | Myoglobinuria (HP:0002913) | 1.91669628 |
| 72 | Hypoproteinemia (HP:0003075) | 1.89457859 |
| 73 | Insulin-resistant diabetes mellitus (HP:0000831) | 1.88820004 |
| 74 | Intellectual disability, moderate (HP:0002342) | 1.88502039 |
| 75 | Progressive sensorineural hearing impairment (HP:0000408) | 1.87827869 |
| 76 | Brittle hair (HP:0002299) | 1.87725912 |
| 77 | Hyperglycinemia (HP:0002154) | 1.85998961 |
| 78 | Nephrogenic diabetes insipidus (HP:0009806) | 1.83813349 |
| 79 | Polydipsia (HP:0001959) | 1.83485758 |
| 80 | Abnormal drinking behavior (HP:0030082) | 1.83485758 |
| 81 | Hemiparesis (HP:0001269) | 1.80501338 |
| 82 | Hypoplastic ischia (HP:0003175) | 1.78665419 |
| 83 | Subcapsular cataract (HP:0000523) | 1.78256377 |
| 84 | Focal segmental glomerulosclerosis (HP:0000097) | 1.77826853 |
| 85 | Enlarged kidneys (HP:0000105) | 1.76035653 |
| 86 | Focal motor seizures (HP:0011153) | 1.75265306 |
| 87 | Sandal gap (HP:0001852) | 1.74945978 |
| 88 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 1.72447499 |
| 89 | Chronic bronchitis (HP:0004469) | 1.70731158 |
| 90 | Hyperuricemia (HP:0002149) | 1.69103569 |
| 91 | Increased purine levels (HP:0004368) | 1.69103569 |
| 92 | Abnormality of DNA repair (HP:0003254) | 1.68772254 |
| 93 | Glomerulosclerosis (HP:0000096) | 1.68368195 |
| 94 | Multicystic kidney dysplasia (HP:0000003) | 1.68180669 |
| 95 | Oligohydramnios (HP:0001562) | 1.67406966 |
| 96 | Sloping forehead (HP:0000340) | 1.66765156 |
| 97 | Hemiplegia (HP:0002301) | 1.66481302 |
| 98 | Abnormality of the ischium (HP:0003174) | 1.66170416 |
| 99 | Abnormality of lateral ventricle (HP:0030047) | 1.65405569 |
| 100 | Photophobia (HP:0000613) | 1.65003487 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 8.16686419 |
| 2 | BRD4 | 5.25925751 |
| 3 | MAP4K2 | 4.11805975 |
| 4 | INSRR | 3.89744118 |
| 5 | PLK2 | 3.74066143 |
| 6 | PNCK | 2.45442466 |
| 7 | PIK3CG | 2.44660301 |
| 8 | CASK | 2.00912217 |
| 9 | TAF1 | 1.96467867 |
| 10 | NEK6 | 1.92821389 |
| 11 | CAMK1G | 1.90685286 |
| 12 | NUAK1 | 1.86443109 |
| 13 | BCKDK | 1.82447311 |
| 14 | TYRO3 | 1.65034527 |
| 15 | MARK1 | 1.64976284 |
| 16 | TESK1 | 1.61391643 |
| 17 | MKNK2 | 1.60594080 |
| 18 | MUSK | 1.43599892 |
| 19 | TNIK | 1.38951871 |
| 20 | PRKD3 | 1.30357396 |
| 21 | BRSK2 | 1.28293476 |
| 22 | SIK2 | 1.21075314 |
| 23 | CDK12 | 1.18440279 |
| 24 | BRSK1 | 1.18036071 |
| 25 | TAOK3 | 1.17834709 |
| 26 | FRK | 1.15883151 |
| 27 | PTK2B | 1.15235970 |
| 28 | DYRK3 | 1.10551579 |
| 29 | TRIM28 | 1.01252638 |
| 30 | SRPK1 | 0.99179194 |
| 31 | CSNK1A1L | 0.91475914 |
| 32 | NTRK3 | 0.90830026 |
| 33 | DYRK1A | 0.90631837 |
| 34 | LATS1 | 0.88370311 |
| 35 | VRK2 | 0.87359926 |
| 36 | STK38 | 0.83274900 |
| 37 | PIM2 | 0.81756573 |
| 38 | MAPK13 | 0.81593491 |
| 39 | PDK2 | 0.81512952 |
| 40 | CSNK1G2 | 0.78741424 |
| 41 | CSNK1G3 | 0.78711769 |
| 42 | LMTK2 | 0.77485362 |
| 43 | FER | 0.77369051 |
| 44 | VRK1 | 0.74778332 |
| 45 | DDR2 | 0.71778942 |
| 46 | MAPK15 | 0.70805514 |
| 47 | WNK1 | 0.70147357 |
| 48 | WNK4 | 0.65493867 |
| 49 | MST4 | 0.65462956 |
| 50 | MKNK1 | 0.64845632 |
| 51 | TXK | 0.64556602 |
| 52 | PRKAA2 | 0.64267747 |
| 53 | PDK1 | 0.64110366 |
| 54 | AKT3 | 0.62081344 |
| 55 | BMPR1B | 0.60523812 |
| 56 | CDK7 | 0.60176952 |
| 57 | CSNK1G1 | 0.60040247 |
| 58 | FGFR2 | 0.58669986 |
| 59 | TESK2 | 0.57152326 |
| 60 | JAK3 | 0.53018751 |
| 61 | PKN1 | 0.51710789 |
| 62 | WNK3 | 0.51267377 |
| 63 | DYRK1B | 0.50539978 |
| 64 | EPHB1 | 0.49787199 |
| 65 | STK38L | 0.49669619 |
| 66 | NEK9 | 0.49139519 |
| 67 | MAP3K4 | 0.47736160 |
| 68 | MAPKAPK5 | 0.45333026 |
| 69 | CHEK2 | 0.44363861 |
| 70 | ERBB3 | 0.40980969 |
| 71 | ATM | 0.39554083 |
| 72 | ATR | 0.37069414 |
| 73 | BCR | 0.36403731 |
| 74 | PRKAA1 | 0.34575712 |
| 75 | PRKG2 | 0.33595449 |
| 76 | CAMKK2 | 0.33342910 |
| 77 | CAMK1D | 0.32651141 |
| 78 | EPHA4 | 0.32467471 |
| 79 | CDK1 | 0.31334609 |
| 80 | DYRK2 | 0.31225814 |
| 81 | CDK2 | 0.29663653 |
| 82 | PRKG1 | 0.29266002 |
| 83 | GSK3B | 0.29103786 |
| 84 | CSNK1A1 | 0.28819970 |
| 85 | MAP2K7 | 0.28670376 |
| 86 | SGK1 | 0.28468277 |
| 87 | CHEK1 | 0.28052982 |
| 88 | PRKCG | 0.26944612 |
| 89 | TIE1 | 0.26136476 |
| 90 | PDPK1 | 0.25552462 |
| 91 | MAPK11 | 0.25450926 |
| 92 | CDC7 | 0.24057407 |
| 93 | NTRK2 | 0.23136340 |
| 94 | MAPK1 | 0.22516107 |
| 95 | CAMK4 | 0.22439685 |
| 96 | JAK2 | 0.22199786 |
| 97 | CAMK1 | 0.21167169 |
| 98 | NME2 | 0.21140837 |
| 99 | CSNK1D | 0.20694661 |
| 100 | MAPK8 | 0.20338454 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 5.12055009 |
| 2 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 4.94961959 |
| 3 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 2.98338141 |
| 4 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 2.84559152 |
| 5 | Steroid biosynthesis_Homo sapiens_hsa00100 | 2.81414895 |
| 6 | Olfactory transduction_Homo sapiens_hsa04740 | 2.64950725 |
| 7 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 2.36004892 |
| 8 | Nitrogen metabolism_Homo sapiens_hsa00910 | 2.33220728 |
| 9 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.25981696 |
| 10 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 2.20323730 |
| 11 | Fatty acid metabolism_Homo sapiens_hsa01212 | 2.14140325 |
| 12 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.99266928 |
| 13 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 1.96359339 |
| 14 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.95603294 |
| 15 | RNA transport_Homo sapiens_hsa03013 | 1.92793321 |
| 16 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.90163986 |
| 17 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.81245686 |
| 18 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 1.75497989 |
| 19 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 1.73462979 |
| 20 | Carbon metabolism_Homo sapiens_hsa01200 | 1.72309846 |
| 21 | Taste transduction_Homo sapiens_hsa04742 | 1.71903032 |
| 22 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.65100755 |
| 23 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.58888373 |
| 24 | Phototransduction_Homo sapiens_hsa04744 | 1.54461050 |
| 25 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.52090636 |
| 26 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.38403175 |
| 27 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.33866409 |
| 28 | Basal transcription factors_Homo sapiens_hsa03022 | 1.26191271 |
| 29 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.14705270 |
| 30 | ABC transporters_Homo sapiens_hsa02010 | 1.13476088 |
| 31 | Peroxisome_Homo sapiens_hsa04146 | 1.13354491 |
| 32 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 1.12056260 |
| 33 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.10106965 |
| 34 | Nicotine addiction_Homo sapiens_hsa05033 | 1.03938311 |
| 35 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 1.01402579 |
| 36 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.94624852 |
| 37 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.93008644 |
| 38 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.91807940 |
| 39 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.90616513 |
| 40 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.89828651 |
| 41 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.88678330 |
| 42 | Lysine degradation_Homo sapiens_hsa00310 | 0.84955198 |
| 43 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.81342321 |
| 44 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.80239204 |
| 45 | Circadian rhythm_Homo sapiens_hsa04710 | 0.79050770 |
| 46 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.78751051 |
| 47 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.75459506 |
| 48 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.71912770 |
| 49 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.70709155 |
| 50 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.68514316 |
| 51 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.65817104 |
| 52 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.63531142 |
| 53 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.62753632 |
| 54 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.61516748 |
| 55 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.61422621 |
| 56 | Insulin secretion_Homo sapiens_hsa04911 | 0.59772427 |
| 57 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.59705349 |
| 58 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.59319369 |
| 59 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.55863071 |
| 60 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.54748400 |
| 61 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.54663858 |
| 62 | RNA degradation_Homo sapiens_hsa03018 | 0.54083503 |
| 63 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.52654420 |
| 64 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.52625923 |
| 65 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.52597019 |
| 66 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.52149030 |
| 67 | Base excision repair_Homo sapiens_hsa03410 | 0.49281619 |
| 68 | GABAergic synapse_Homo sapiens_hsa04727 | 0.48828733 |
| 69 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.48758413 |
| 70 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.48418507 |
| 71 | Morphine addiction_Homo sapiens_hsa05032 | 0.47611168 |
| 72 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.47348686 |
| 73 | Purine metabolism_Homo sapiens_hsa00230 | 0.46802368 |
| 74 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.46038805 |
| 75 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.41063505 |
| 76 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.40009671 |
| 77 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.39570015 |
| 78 | Bile secretion_Homo sapiens_hsa04976 | 0.39486771 |
| 79 | Metabolic pathways_Homo sapiens_hsa01100 | 0.39215768 |
| 80 | Salivary secretion_Homo sapiens_hsa04970 | 0.38995981 |
| 81 | Retinol metabolism_Homo sapiens_hsa00830 | 0.37171855 |
| 82 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.36783782 |
| 83 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.33799289 |
| 84 | Homologous recombination_Homo sapiens_hsa03440 | 0.32458038 |
| 85 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.31859289 |
| 86 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.31369325 |
| 87 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.30646967 |
| 88 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.30466151 |
| 89 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.29804122 |
| 90 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.28280403 |
| 91 | Endocytosis_Homo sapiens_hsa04144 | 0.28229698 |
| 92 | Spliceosome_Homo sapiens_hsa03040 | 0.28049538 |
| 93 | Huntingtons disease_Homo sapiens_hsa05016 | 0.27965977 |
| 94 | Mineral absorption_Homo sapiens_hsa04978 | 0.27253552 |
| 95 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.26664354 |
| 96 | Circadian entrainment_Homo sapiens_hsa04713 | 0.26164600 |
| 97 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.25804934 |
| 98 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.25757627 |
| 99 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.25749749 |
| 100 | Axon guidance_Homo sapiens_hsa04360 | 0.25439235 |

