

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | chromosome condensation (GO:0030261) | 9.09688384 |
| 2 | DNA packaging (GO:0006323) | 8.80139559 |
| 3 | single strand break repair (GO:0000012) | 8.56874829 |
| 4 | sperm capacitation (GO:0048240) | 8.38130475 |
| 5 | spermatid development (GO:0007286) | 8.18629856 |
| 6 | protein targeting to Golgi (GO:0000042) | 8.06427447 |
| 7 | plasma membrane fusion (GO:0045026) | 7.82474615 |
| 8 | microtubule depolymerization (GO:0007019) | 7.79849848 |
| 9 | establishment of protein localization to Golgi (GO:0072600) | 7.78573058 |
| 10 | spermatid nucleus differentiation (GO:0007289) | 7.64139028 |
| 11 | protein polyglutamylation (GO:0018095) | 7.47690355 |
| 12 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 7.45589052 |
| 13 | sperm-egg recognition (GO:0035036) | 7.29158207 |
| 14 | axonemal dynein complex assembly (GO:0070286) | 7.11354517 |
| 15 | microtubule polymerization or depolymerization (GO:0031109) | 6.96815093 |
| 16 | multicellular organism reproduction (GO:0032504) | 6.95863481 |
| 17 | response to pheromone (GO:0019236) | 6.92532196 |
| 18 | binding of sperm to zona pellucida (GO:0007339) | 6.73179196 |
| 19 | rRNA methylation (GO:0031167) | 6.71269227 |
| 20 | reproduction (GO:0000003) | 6.55361155 |
| 21 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.38560265 |
| 22 | sexual reproduction (GO:0019953) | 6.34934271 |
| 23 | seminiferous tubule development (GO:0072520) | 6.26174611 |
| 24 | * spermatogenesis (GO:0007283) | 6.20440814 |
| 25 | * male gamete generation (GO:0048232) | 6.18484976 |
| 26 | centriole replication (GO:0007099) | 6.11075995 |
| 27 | calcium ion-dependent exocytosis (GO:0017156) | 6.08413539 |
| 28 | cell-cell recognition (GO:0009988) | 6.02832525 |
| 29 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.88898333 |
| 30 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.87982155 |
| 31 | motile cilium assembly (GO:0044458) | 5.87245750 |
| 32 | protein localization to Golgi apparatus (GO:0034067) | 5.80111267 |
| 33 | negative regulation of inclusion body assembly (GO:0090084) | 5.80029299 |
| 34 | * gamete generation (GO:0007276) | 5.66816778 |
| 35 | microtubule severing (GO:0051013) | 5.59773844 |
| 36 | rRNA modification (GO:0000154) | 5.52240758 |
| 37 | regulation of centriole replication (GO:0046599) | 5.45775758 |
| 38 | centriole assembly (GO:0098534) | 5.38746987 |
| 39 | single fertilization (GO:0007338) | 5.35546846 |
| 40 | RNA destabilization (GO:0050779) | 5.30118891 |
| 41 | regulation of cilium movement (GO:0003352) | 5.01187428 |
| 42 | germ cell development (GO:0007281) | 4.69778635 |
| 43 | cellular ketone body metabolic process (GO:0046950) | 4.68842057 |
| 44 | glomerular visceral epithelial cell development (GO:0072015) | 4.67516901 |
| 45 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.57196251 |
| 46 | * multicellular organismal reproductive process (GO:0048609) | 4.53206010 |
| 47 | regulation of Rab GTPase activity (GO:0032313) | 4.52800678 |
| 48 | positive regulation of Rab GTPase activity (GO:0032851) | 4.52800678 |
| 49 | fertilization (GO:0009566) | 4.52257892 |
| 50 | nucleus organization (GO:0006997) | 4.43026746 |
| 51 | glomerular epithelial cell development (GO:0072310) | 4.36761888 |
| 52 | epithelial cilium movement (GO:0003351) | 4.36318418 |
| 53 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.33737815 |
| 54 | chromatin silencing (GO:0006342) | 4.33017746 |
| 55 | cell wall macromolecule catabolic process (GO:0016998) | 4.24179328 |
| 56 | ketone body metabolic process (GO:1902224) | 4.12447097 |
| 57 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 4.11082722 |
| 58 | cell wall macromolecule metabolic process (GO:0044036) | 3.98441684 |
| 59 | regulation of inclusion body assembly (GO:0090083) | 3.94003957 |
| 60 | positive regulation of guanylate cyclase activity (GO:0031284) | 3.92573939 |
| 61 | microtubule nucleation (GO:0007020) | 3.91335450 |
| 62 | musculoskeletal movement (GO:0050881) | 3.84457421 |
| 63 | multicellular organismal movement (GO:0050879) | 3.84457421 |
| 64 | cilium movement (GO:0003341) | 3.77554165 |
| 65 | glycerol ether metabolic process (GO:0006662) | 3.70719134 |
| 66 | regulation of guanylate cyclase activity (GO:0031282) | 3.60670926 |
| 67 | positive regulation of endothelial cell differentiation (GO:0045603) | 3.50191687 |
| 68 | nucleosome disassembly (GO:0006337) | 3.49226433 |
| 69 | protein-DNA complex disassembly (GO:0032986) | 3.49226433 |
| 70 | homeostasis of number of cells within a tissue (GO:0048873) | 3.45634712 |
| 71 | ether metabolic process (GO:0018904) | 3.41314095 |
| 72 | organic cation transport (GO:0015695) | 3.34772991 |
| 73 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.32582099 |
| 74 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.29946275 |
| 75 | polyamine biosynthetic process (GO:0006596) | 3.19301510 |
| 76 | axoneme assembly (GO:0035082) | 3.18970632 |
| 77 | nuclear pore complex assembly (GO:0051292) | 3.13370907 |
| 78 | intra-Golgi vesicle-mediated transport (GO:0006891) | 3.11832651 |
| 79 | cellular response to pH (GO:0071467) | 3.11649371 |
| 80 | multicellular organismal development (GO:0007275) | 3.10924165 |
| 81 | ventricular system development (GO:0021591) | 3.04463438 |
| 82 | response to acidic pH (GO:0010447) | 3.03057487 |
| 83 | regulation of microtubule-based movement (GO:0060632) | 3.00615034 |
| 84 | protein depolymerization (GO:0051261) | 2.97902558 |
| 85 | regulation of interleukin-13 production (GO:0032656) | 2.94407955 |
| 86 | membrane protein intracellular domain proteolysis (GO:0031293) | 2.92193901 |
| 87 | coenzyme catabolic process (GO:0009109) | 2.89745055 |
| 88 | negative regulation of gene expression, epigenetic (GO:0045814) | 2.87357432 |
| 89 | cell recognition (GO:0008037) | 2.87147254 |
| 90 | DNA conformation change (GO:0071103) | 2.81784587 |
| 91 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.80385666 |
| 92 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 2.79064229 |
| 93 | RNA localization (GO:0006403) | 2.74839117 |
| 94 | histone H3-K9 demethylation (GO:0033169) | 2.73497072 |
| 95 | regulation of ARF GTPase activity (GO:0032312) | 2.73041296 |
| 96 | piRNA metabolic process (GO:0034587) | 2.68380460 |
| 97 | NAD biosynthetic process (GO:0009435) | 2.67204576 |
| 98 | sperm motility (GO:0030317) | 12.0128796 |
| 99 | acrosome reaction (GO:0007340) | 11.3183497 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.2622148 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 4.77713658 |
| 2 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.63946259 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.23455736 |
| 4 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.80097260 |
| 5 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.65716632 |
| 6 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.34867142 |
| 7 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.34867142 |
| 8 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.20964069 |
| 9 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.20964069 |
| 10 | DROSHA_22980978_ChIP-Seq_HELA_Human | 2.19361518 |
| 11 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.13517993 |
| 12 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.12134616 |
| 13 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.06886462 |
| 14 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.97320714 |
| 15 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.96804709 |
| 16 | FUS_26573619_Chip-Seq_HEK293_Human | 1.92213868 |
| 17 | ERA_21632823_ChIP-Seq_H3396_Human | 1.83450748 |
| 18 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.75809872 |
| 19 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.74839473 |
| 20 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.74561098 |
| 21 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.73542027 |
| 22 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.70777681 |
| 23 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.67068992 |
| 24 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.65839487 |
| 25 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.63570173 |
| 26 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.62794603 |
| 27 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.58253879 |
| 28 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.57066932 |
| 29 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.54933733 |
| 30 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.53598582 |
| 31 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.52760332 |
| 32 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.52584215 |
| 33 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.52554523 |
| 34 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.51010805 |
| 35 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.50527494 |
| 36 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.49747747 |
| 37 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.49718467 |
| 38 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.49426693 |
| 39 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.49406214 |
| 40 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.49156817 |
| 41 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.47596477 |
| 42 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.46324551 |
| 43 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.45812764 |
| 44 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.44864257 |
| 45 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.42458010 |
| 46 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.40051094 |
| 47 | AR_25329375_ChIP-Seq_VCAP_Human | 1.38725905 |
| 48 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.38599415 |
| 49 | P68_20966046_ChIP-Seq_HELA_Human | 1.37940554 |
| 50 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.37674048 |
| 51 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.37109056 |
| 52 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.36128084 |
| 53 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.34970761 |
| 54 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.34854152 |
| 55 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.33572580 |
| 56 | TBL1_22424771_ChIP-Seq_293T_Human | 1.32595857 |
| 57 | NFYB_21822215_ChIP-Seq_K562_Human | 1.31890420 |
| 58 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.30910553 |
| 59 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.30104505 |
| 60 | P300_19829295_ChIP-Seq_ESCs_Human | 1.29682824 |
| 61 | P300_27268052_Chip-Seq_Bcells_Human | 1.28248591 |
| 62 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.24074354 |
| 63 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.23576715 |
| 64 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.22796283 |
| 65 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.22544579 |
| 66 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.22144015 |
| 67 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.21083560 |
| 68 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.20779700 |
| 69 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.20723835 |
| 70 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.20652664 |
| 71 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.19164463 |
| 72 | NFYA_21822215_ChIP-Seq_K562_Human | 1.18951362 |
| 73 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.18446485 |
| 74 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.16281506 |
| 75 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.15818935 |
| 76 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.14800358 |
| 77 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.13687440 |
| 78 | STAT3_23295773_ChIP-Seq_U87_Human | 1.13431731 |
| 79 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.13238819 |
| 80 | SA1_27219007_Chip-Seq_Bcells_Human | 1.11432158 |
| 81 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.10708352 |
| 82 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.09382584 |
| 83 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.08675088 |
| 84 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.07404913 |
| 85 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.06535658 |
| 86 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.06207301 |
| 87 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.05831116 |
| 88 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.05493573 |
| 89 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.05058396 |
| 90 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.05058396 |
| 91 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.02897767 |
| 92 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.02504186 |
| 93 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.02232695 |
| 94 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.01218563 |
| 95 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.00464997 |
| 96 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.00343970 |
| 97 | VDR_22108803_ChIP-Seq_LS180_Human | 1.00252253 |
| 98 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.00239346 |
| 99 | KLF4_19829295_ChIP-Seq_ESCs_Human | 0.98479907 |
| 100 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 0.98266918 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003878_abnormal_ear_physiology | 5.81774504 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 5.81774504 |
| 3 | MP0003698_abnormal_male_reproductive | 4.44407390 |
| 4 | MP0005670_abnormal_white_adipose | 4.11473569 |
| 5 | MP0001929_abnormal_gametogenesis | 3.89165021 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.37282837 |
| 7 | MP0003646_muscle_fatigue | 2.92462022 |
| 8 | MP0002161_abnormal_fertility/fecundity | 2.38934977 |
| 9 | MP0000678_abnormal_parathyroid_gland | 2.29585049 |
| 10 | MP0005410_abnormal_fertilization | 11.7087613 |
| 11 | MP0001485_abnormal_pinna_reflex | 1.89366263 |
| 12 | MP0002210_abnormal_sex_determination | 1.86736923 |
| 13 | MP0003718_maternal_effect | 1.82565960 |
| 14 | MP0005379_endocrine/exocrine_gland_phen | 1.81226419 |
| 15 | MP0003011_delayed_dark_adaptation | 1.75503493 |
| 16 | MP0002132_abnormal_respiratory_system | 1.74321327 |
| 17 | MP0003879_abnormal_hair_cell | 1.66888190 |
| 18 | MP0005451_abnormal_body_composition | 1.62242292 |
| 19 | MP0001486_abnormal_startle_reflex | 1.59171726 |
| 20 | MP0001145_abnormal_male_reproductive | 1.46744265 |
| 21 | MP0005310_abnormal_salivary_gland | 1.46409876 |
| 22 | MP0000653_abnormal_sex_gland | 1.43272104 |
| 23 | MP0004742_abnormal_vestibular_system | 1.34333531 |
| 24 | MP0005083_abnormal_biliary_tract | 1.31323764 |
| 25 | MP0001765_abnormal_ion_homeostasis | 1.28519181 |
| 26 | MP0001968_abnormal_touch/_nociception | 1.28030250 |
| 27 | MP0005551_abnormal_eye_electrophysiolog | 1.27060239 |
| 28 | MP0002653_abnormal_ependyma_morphology | 1.25878059 |
| 29 | MP0002735_abnormal_chemical_nociception | 1.23141071 |
| 30 | MP0001963_abnormal_hearing_physiology | 1.22907391 |
| 31 | MP0002282_abnormal_trachea_morphology | 1.14866683 |
| 32 | MP0005423_abnormal_somatic_nervous | 1.14547191 |
| 33 | MP0001984_abnormal_olfaction | 1.04660286 |
| 34 | MP0002249_abnormal_larynx_morphology | 1.04246359 |
| 35 | MP0005253_abnormal_eye_physiology | 1.02695055 |
| 36 | MP0004859_abnormal_synaptic_plasticity | 1.02568452 |
| 37 | MP0000026_abnormal_inner_ear | 1.02237303 |
| 38 | MP0002234_abnormal_pharynx_morphology | 0.99121355 |
| 39 | MP0005395_other_phenotype | 0.97762820 |
| 40 | MP0002138_abnormal_hepatobiliary_system | 0.97589961 |
| 41 | MP0002127_abnormal_cardiovascular_syste | 0.93185182 |
| 42 | MP0005645_abnormal_hypothalamus_physiol | 0.90351416 |
| 43 | MP0001986_abnormal_taste_sensitivity | 0.86771795 |
| 44 | MP0001501_abnormal_sleep_pattern | 0.86553607 |
| 45 | MP0002229_neurodegeneration | 0.86246823 |
| 46 | MP0000534_abnormal_ureter_morphology | 0.85901070 |
| 47 | MP0002557_abnormal_social/conspecific_i | 0.83261954 |
| 48 | MP0001666_abnormal_nutrient_absorption | 0.82805105 |
| 49 | MP0002733_abnormal_thermal_nociception | 0.82746294 |
| 50 | MP0009115_abnormal_fat_cell | 0.82734783 |
| 51 | MP0009697_abnormal_copulation | 0.82107190 |
| 52 | MP0002067_abnormal_sensory_capabilities | 0.81764409 |
| 53 | MP0008877_abnormal_DNA_methylation | 0.80405248 |
| 54 | MP0008995_early_reproductive_senescence | 0.78815677 |
| 55 | MP0005666_abnormal_adipose_tissue | 0.78696759 |
| 56 | MP0005167_abnormal_blood-brain_barrier | 0.73456517 |
| 57 | MP0004085_abnormal_heartbeat | 0.71008140 |
| 58 | MP0002928_abnormal_bile_duct | 0.69548456 |
| 59 | MP0002272_abnormal_nervous_system | 0.68630303 |
| 60 | MP0000955_abnormal_spinal_cord | 0.68323784 |
| 61 | MP0008569_lethality_at_weaning | 0.67460724 |
| 62 | MP0009053_abnormal_anal_canal | 0.66379104 |
| 63 | MP0004510_myositis | 0.65971528 |
| 64 | MP0003045_fibrosis | 0.63522963 |
| 65 | MP0005636_abnormal_mineral_homeostasis | 0.62866001 |
| 66 | MP0000230_abnormal_systemic_arterial | 0.62684141 |
| 67 | MP0002734_abnormal_mechanical_nocicepti | 0.60166569 |
| 68 | MP0002572_abnormal_emotion/affect_behav | 0.59886571 |
| 69 | MP0001970_abnormal_pain_threshold | 0.57625473 |
| 70 | MP0010329_abnormal_lipoprotein_level | 0.57494109 |
| 71 | MP0004036_abnormal_muscle_relaxation | 0.56769764 |
| 72 | MP0010386_abnormal_urinary_bladder | 0.56219459 |
| 73 | MP0005332_abnormal_amino_acid | 0.54940406 |
| 74 | MP0005671_abnormal_response_to | 0.54042693 |
| 75 | MP0001905_abnormal_dopamine_level | 0.51556919 |
| 76 | MP0000681_abnormal_thyroid_gland | 0.50791014 |
| 77 | MP0002822_catalepsy | 0.49814509 |
| 78 | MP0009745_abnormal_behavioral_response | 0.49638278 |
| 79 | MP0001879_abnormal_lymphatic_vessel | 0.49219100 |
| 80 | MP0005375_adipose_tissue_phenotype | 0.48006103 |
| 81 | MP0005248_abnormal_Harderian_gland | 0.47816309 |
| 82 | MP0002136_abnormal_kidney_physiology | 0.46858074 |
| 83 | MP0002168_other_aberrant_phenotype | 0.46774706 |
| 84 | MP0009643_abnormal_urine_homeostasis | 0.44613455 |
| 85 | MP0001873_stomach_inflammation | 0.42893079 |
| 86 | MP0003950_abnormal_plasma_membrane | 0.41700994 |
| 87 | MP0005535_abnormal_body_temperature | 0.41549055 |
| 88 | MP0000470_abnormal_stomach_morphology | 0.40210451 |
| 89 | MP0003119_abnormal_digestive_system | 0.40084986 |
| 90 | MP0008872_abnormal_physiological_respon | 0.38754593 |
| 91 | MP0004782_abnormal_surfactant_physiolog | 0.38563897 |
| 92 | MP0001440_abnormal_grooming_behavior | 0.37824697 |
| 93 | MP0005647_abnormal_sex_gland | 0.36960680 |
| 94 | MP0000049_abnormal_middle_ear | 0.36935022 |
| 95 | MP0003635_abnormal_synaptic_transmissio | 0.36805624 |
| 96 | MP0008775_abnormal_heart_ventricle | 0.36787650 |
| 97 | MP0005391_vision/eye_phenotype | 0.35674958 |
| 98 | MP0003699_abnormal_female_reproductive | 0.34942590 |
| 99 | MP0003631_nervous_system_phenotype | 0.34691918 |
| 100 | MP0005595_abnormal_vascular_smooth | 0.33706705 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 7.25162816 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 6.52015615 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.52015615 |
| 4 | Chronic hepatic failure (HP:0100626) | 5.83028912 |
| 5 | Tubulointerstitial nephritis (HP:0001970) | 5.77452392 |
| 6 | Abnormal respiratory motile cilium morphology (HP:0005938) | 5.15873566 |
| 7 | Abnormal respiratory epithelium morphology (HP:0012253) | 5.15873566 |
| 8 | Hyperkalemia (HP:0002153) | 5.10974916 |
| 9 | Asymmetric septal hypertrophy (HP:0001670) | 4.66351921 |
| 10 | Abnormal ciliary motility (HP:0012262) | 4.64838441 |
| 11 | Nasal polyposis (HP:0100582) | 4.59261541 |
| 12 | Attenuation of retinal blood vessels (HP:0007843) | 4.54585868 |
| 13 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.47931576 |
| 14 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.43529887 |
| 15 | Cone-rod dystrophy (HP:0000548) | 4.37244334 |
| 16 | Male infertility (HP:0003251) | 4.30557605 |
| 17 | Abnormality of macular pigmentation (HP:0008002) | 4.15184629 |
| 18 | Resting tremor (HP:0002322) | 4.14262394 |
| 19 | Amelogenesis imperfecta (HP:0000705) | 4.13984493 |
| 20 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.07111472 |
| 21 | Infertility (HP:0000789) | 4.00512890 |
| 22 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.95621319 |
| 23 | Abnormality of the nasal mucosa (HP:0000433) | 3.70189783 |
| 24 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.60236030 |
| 25 | Menstrual irregularities (HP:0000858) | 3.56313828 |
| 26 | Progressive sensorineural hearing impairment (HP:0000408) | 3.55089096 |
| 27 | Hypoalphalipoproteinemia (HP:0003233) | 3.53438092 |
| 28 | Enlarged epiphyses (HP:0010580) | 3.52563190 |
| 29 | Abnormality of dental color (HP:0011073) | 3.45204556 |
| 30 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.41552267 |
| 31 | Impulsivity (HP:0100710) | 3.37422033 |
| 32 | Hypoplasia of the thymus (HP:0000778) | 3.20228225 |
| 33 | Renovascular hypertension (HP:0100817) | 3.14343708 |
| 34 | Abnormal spermatogenesis (HP:0008669) | 3.10812367 |
| 35 | Progressive cerebellar ataxia (HP:0002073) | 3.07822789 |
| 36 | Facial shape deformation (HP:0011334) | 3.04064784 |
| 37 | Potter facies (HP:0002009) | 3.04064784 |
| 38 | Portal hypertension (HP:0001409) | 2.94801344 |
| 39 | Generalized aminoaciduria (HP:0002909) | 2.94195535 |
| 40 | Abnormality of the costochondral junction (HP:0000919) | 2.90462794 |
| 41 | Azoospermia (HP:0000027) | 2.88524670 |
| 42 | Postural instability (HP:0002172) | 2.85812040 |
| 43 | Stage 5 chronic kidney disease (HP:0003774) | 2.85459089 |
| 44 | Truncal obesity (HP:0001956) | 2.79008247 |
| 45 | Abnormality of the aortic arch (HP:0012303) | 2.78797230 |
| 46 | Abnormality of potassium homeostasis (HP:0011042) | 2.76329598 |
| 47 | Abnormality of the hepatic vasculature (HP:0006707) | 2.70918765 |
| 48 | Tubulointerstitial abnormality (HP:0001969) | 2.62507366 |
| 49 | Abnormal urine output (HP:0012590) | 2.60641232 |
| 50 | Congenital sensorineural hearing impairment (HP:0008527) | 2.60268643 |
| 51 | Nephronophthisis (HP:0000090) | 2.55551908 |
| 52 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.51387648 |
| 53 | Hyponatremia (HP:0002902) | 2.46856071 |
| 54 | Bell-shaped thorax (HP:0001591) | 2.46163135 |
| 55 | Hyperuricemia (HP:0002149) | 2.43977010 |
| 56 | Increased purine levels (HP:0004368) | 2.43977010 |
| 57 | Polydipsia (HP:0001959) | 2.31134202 |
| 58 | Abnormal drinking behavior (HP:0030082) | 2.31134202 |
| 59 | Rhinitis (HP:0012384) | 2.25610001 |
| 60 | Abnormality of renal excretion (HP:0011036) | 2.24999024 |
| 61 | Polyuria (HP:0000103) | 2.24484096 |
| 62 | Hypoplastic ischia (HP:0003175) | 2.24145957 |
| 63 | Widely patent fontanelles and sutures (HP:0004492) | 2.23583125 |
| 64 | Unilateral renal agenesis (HP:0000122) | 2.21783734 |
| 65 | Focal segmental glomerulosclerosis (HP:0000097) | 2.19807351 |
| 66 | Abnormality of the renal medulla (HP:0100957) | 2.12192355 |
| 67 | Chronic bronchitis (HP:0004469) | 2.12138368 |
| 68 | Osteomalacia (HP:0002749) | 2.10829460 |
| 69 | Hypophosphatemic rickets (HP:0004912) | 2.10190119 |
| 70 | Bronchiectasis (HP:0002110) | 2.10088168 |
| 71 | Progressive hearing impairment (HP:0001730) | 2.09889302 |
| 72 | Recurrent corneal erosions (HP:0000495) | 2.04699692 |
| 73 | Abnormality of chloride homeostasis (HP:0011422) | 2.03110464 |
| 74 | Intellectual disability, moderate (HP:0002342) | 2.00796314 |
| 75 | Abnormality of the ischium (HP:0003174) | 1.99353360 |
| 76 | Hypergonadotropic hypogonadism (HP:0000815) | 1.94669685 |
| 77 | Pigmentary retinal degeneration (HP:0001146) | 1.92070211 |
| 78 | Congenital malformation of the right heart (HP:0011723) | 1.91690725 |
| 79 | Double outlet right ventricle (HP:0001719) | 1.91690725 |
| 80 | Subcapsular cataract (HP:0000523) | 1.91377683 |
| 81 | Abnormality of the parathyroid morphology (HP:0011766) | 1.89431199 |
| 82 | Pendular nystagmus (HP:0012043) | 1.89350370 |
| 83 | Glomerulosclerosis (HP:0000096) | 1.87897178 |
| 84 | Renal dysplasia (HP:0000110) | 1.85722848 |
| 85 | Abnormal albumin level (HP:0012116) | 1.84540203 |
| 86 | Hypoalbuminemia (HP:0003073) | 1.84540203 |
| 87 | Abnormality of sodium homeostasis (HP:0010931) | 1.84421207 |
| 88 | Photophobia (HP:0000613) | 1.81661553 |
| 89 | Abnormality of DNA repair (HP:0003254) | 1.76989228 |
| 90 | Ventricular tachycardia (HP:0004756) | 1.75596743 |
| 91 | Decreased central vision (HP:0007663) | 1.74788507 |
| 92 | Optic nerve hypoplasia (HP:0000609) | 1.73923314 |
| 93 | Cerebellar dysplasia (HP:0007033) | 1.72439414 |
| 94 | Myokymia (HP:0002411) | 1.72242277 |
| 95 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.70929622 |
| 96 | Peritonitis (HP:0002586) | 1.70561318 |
| 97 | Abnormality of purine metabolism (HP:0004352) | 1.70185250 |
| 98 | Bradycardia (HP:0001662) | 1.68863641 |
| 99 | Scotoma (HP:0000575) | 1.66894131 |
| 100 | Hypolipoproteinemia (HP:0010981) | 1.66152854 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 8.80999703 |
| 2 | INSRR | 5.00594505 |
| 3 | TESK1 | 4.38789001 |
| 4 | BRD4 | 3.97588226 |
| 5 | PLK2 | 3.18017912 |
| 6 | STK38 | 2.93137568 |
| 7 | PNCK | 2.93039706 |
| 8 | MAP4K2 | 2.79371965 |
| 9 | DDR2 | 2.55942529 |
| 10 | MAPK15 | 2.51270613 |
| 11 | CAMK1G | 2.43271696 |
| 12 | MST1R | 2.13352908 |
| 13 | PIK3CG | 2.04855095 |
| 14 | TAOK3 | 1.98650676 |
| 15 | MAP3K11 | 1.96415571 |
| 16 | STK38L | 1.81791155 |
| 17 | WNK4 | 1.81542535 |
| 18 | PRKD3 | 1.78660011 |
| 19 | WNK1 | 1.72034786 |
| 20 | PDK1 | 1.56705286 |
| 21 | CDK12 | 1.55928457 |
| 22 | TYRO3 | 1.53050318 |
| 23 | PDPK1 | 1.43455583 |
| 24 | MAP3K13 | 1.35214128 |
| 25 | NEK6 | 1.27250988 |
| 26 | PTK2B | 1.18953221 |
| 27 | TIE1 | 1.06588132 |
| 28 | MAP4K1 | 1.00836098 |
| 29 | CAMK1D | 0.99920851 |
| 30 | RIPK4 | 0.96281246 |
| 31 | DYRK1B | 0.91859768 |
| 32 | CDK7 | 0.78573415 |
| 33 | KDR | 0.78091394 |
| 34 | TESK2 | 0.70818943 |
| 35 | STK39 | 0.68633483 |
| 36 | PRKG2 | 0.68205417 |
| 37 | TXK | 0.65818472 |
| 38 | AKT3 | 0.64040046 |
| 39 | SIK2 | 0.62970345 |
| 40 | MAP2K2 | 0.62918347 |
| 41 | BLK | 0.58461828 |
| 42 | NME1 | 0.56578276 |
| 43 | MAP3K1 | 0.55266301 |
| 44 | OXSR1 | 0.54864382 |
| 45 | MAP3K9 | 0.54495807 |
| 46 | CASK | 0.54050157 |
| 47 | NEK2 | 0.52499915 |
| 48 | CAMK1 | 0.52336611 |
| 49 | PRKG1 | 0.51431435 |
| 50 | LATS2 | 0.51038444 |
| 51 | ZAK | 0.50477065 |
| 52 | PRKAA2 | 0.48336719 |
| 53 | PINK1 | 0.46518497 |
| 54 | KSR2 | 0.45702298 |
| 55 | BRAF | 0.43848167 |
| 56 | FRK | 0.40973360 |
| 57 | RPS6KA2 | 0.40220980 |
| 58 | CDK3 | 0.39651878 |
| 59 | CAMK4 | 0.39634665 |
| 60 | MAP3K8 | 0.39251759 |
| 61 | RPS6KA1 | 0.36403724 |
| 62 | MARK3 | 0.36274535 |
| 63 | PRKCZ | 0.34516339 |
| 64 | SGK1 | 0.34300515 |
| 65 | MUSK | 0.34091353 |
| 66 | SGK223 | 0.33835801 |
| 67 | SGK494 | 0.33835801 |
| 68 | GSK3B | 0.33338257 |
| 69 | MAP3K7 | 0.32930106 |
| 70 | CDK1 | 0.32757740 |
| 71 | MAPK1 | 0.32721356 |
| 72 | CDK2 | 0.32430568 |
| 73 | MARK1 | 0.32290658 |
| 74 | ADRBK2 | 0.30396815 |
| 75 | ROCK1 | 0.29487815 |
| 76 | ICK | 0.28374394 |
| 77 | MAPK8 | 0.26796572 |
| 78 | LATS1 | 0.26131716 |
| 79 | MET | 0.25983747 |
| 80 | RPS6KA6 | 0.23706371 |
| 81 | RPS6KC1 | 0.22556047 |
| 82 | RPS6KL1 | 0.22556047 |
| 83 | MAP3K2 | 0.21981011 |
| 84 | PRKCB | 0.21965498 |
| 85 | UHMK1 | 0.21835474 |
| 86 | NTRK3 | 0.21261135 |
| 87 | MTOR | 0.18923929 |
| 88 | ZAP70 | 0.18431354 |
| 89 | PRKCG | 0.17917656 |
| 90 | MAPK14 | 0.16419121 |
| 91 | PRKCH | 0.14840047 |
| 92 | SGK2 | 0.14692168 |
| 93 | CDK4 | 0.14063027 |
| 94 | BMPR1B | 0.13889359 |
| 95 | PRKCQ | 0.12236345 |
| 96 | AKT1 | 0.10899819 |
| 97 | CHEK1 | 0.10663270 |
| 98 | MAPK10 | 0.10129836 |
| 99 | PASK | 0.10097646 |
| 100 | RIPK1 | 0.10074346 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 7.44664636 |
| 2 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 5.91266560 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 4.01432804 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.24886159 |
| 5 | Phototransduction_Homo sapiens_hsa04744 | 2.17446433 |
| 6 | Taste transduction_Homo sapiens_hsa04742 | 1.99530930 |
| 7 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.89446938 |
| 8 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.88149400 |
| 9 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.87465876 |
| 10 | RNA transport_Homo sapiens_hsa03013 | 1.76255231 |
| 11 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.59694696 |
| 12 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.57127665 |
| 13 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.52755681 |
| 14 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.51017314 |
| 15 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.48340367 |
| 16 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.43834642 |
| 17 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.42240953 |
| 18 | ABC transporters_Homo sapiens_hsa02010 | 1.39750065 |
| 19 | Salivary secretion_Homo sapiens_hsa04970 | 1.36034810 |
| 20 | Allograft rejection_Homo sapiens_hsa05330 | 1.35434533 |
| 21 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.35419478 |
| 22 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.25971113 |
| 23 | Nicotine addiction_Homo sapiens_hsa05033 | 1.21977185 |
| 24 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.20633412 |
| 25 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.19614517 |
| 26 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.18475870 |
| 27 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.10344467 |
| 28 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.10341991 |
| 29 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.09614414 |
| 30 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.09611341 |
| 31 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.05972271 |
| 32 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.04364865 |
| 33 | Morphine addiction_Homo sapiens_hsa05032 | 1.03301838 |
| 34 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.01358757 |
| 35 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.99180287 |
| 36 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.96580673 |
| 37 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.95969047 |
| 38 | Viral myocarditis_Homo sapiens_hsa05416 | 0.95949775 |
| 39 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.95085726 |
| 40 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.88446550 |
| 41 | Bile secretion_Homo sapiens_hsa04976 | 0.87301172 |
| 42 | Endocytosis_Homo sapiens_hsa04144 | 0.86276621 |
| 43 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.85447456 |
| 44 | Circadian entrainment_Homo sapiens_hsa04713 | 0.85089758 |
| 45 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.82468358 |
| 46 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.81789155 |
| 47 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.79708792 |
| 48 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.78575905 |
| 49 | Influenza A_Homo sapiens_hsa05164 | 0.74259165 |
| 50 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.73607654 |
| 51 | Mineral absorption_Homo sapiens_hsa04978 | 0.72960891 |
| 52 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.72869827 |
| 53 | Renin secretion_Homo sapiens_hsa04924 | 0.72302176 |
| 54 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.67818502 |
| 55 | Retinol metabolism_Homo sapiens_hsa00830 | 0.67630214 |
| 56 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.67242304 |
| 57 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.66725821 |
| 58 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.62726783 |
| 59 | Insulin secretion_Homo sapiens_hsa04911 | 0.61186805 |
| 60 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.61118139 |
| 61 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.61108328 |
| 62 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.61100741 |
| 63 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.60261071 |
| 64 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.58632941 |
| 65 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.56810918 |
| 66 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.56052750 |
| 67 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.54989333 |
| 68 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.54903672 |
| 69 | Purine metabolism_Homo sapiens_hsa00230 | 0.51248620 |
| 70 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.50287154 |
| 71 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.49611607 |
| 72 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.49069718 |
| 73 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.47829782 |
| 74 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.44900511 |
| 75 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.44801752 |
| 76 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.44518630 |
| 77 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.44243024 |
| 78 | GABAergic synapse_Homo sapiens_hsa04727 | 0.41388949 |
| 79 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.41215419 |
| 80 | Basal transcription factors_Homo sapiens_hsa03022 | 0.40415952 |
| 81 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.40322126 |
| 82 | T cell receptor signaling pathway_Homo sapiens_hsa04660 | 0.39638233 |
| 83 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.36842867 |
| 84 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.36012046 |
| 85 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.32517601 |
| 86 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.32459590 |
| 87 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.31937671 |
| 88 | Huntingtons disease_Homo sapiens_hsa05016 | 0.30873562 |
| 89 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.27226673 |
| 90 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.27087651 |
| 91 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.25602168 |
| 92 | Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750 | 0.25234431 |
| 93 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.23727074 |
| 94 | Long-term potentiation_Homo sapiens_hsa04720 | 0.22123298 |
| 95 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.21869357 |
| 96 | Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650 | 0.21772793 |
| 97 | Tight junction_Homo sapiens_hsa04530 | 0.19219847 |
| 98 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.18515244 |
| 99 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.18248112 |
| 100 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.18167164 |

