

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | response to pheromone (GO:0019236) | 9.68809070 |
| 2 | chromosome condensation (GO:0030261) | 9.58976413 |
| 3 | DNA packaging (GO:0006323) | 9.09283081 |
| 4 | spermatid nucleus differentiation (GO:0007289) | 8.51736673 |
| 5 | sperm capacitation (GO:0048240) | 8.46435722 |
| 6 | plasma membrane fusion (GO:0045026) | 8.30960620 |
| 7 | single strand break repair (GO:0000012) | 8.17678746 |
| 8 | microtubule depolymerization (GO:0007019) | 8.14835111 |
| 9 | spermatid development (GO:0007286) | 8.05911362 |
| 10 | sperm-egg recognition (GO:0035036) | 7.81677322 |
| 11 | multicellular organism reproduction (GO:0032504) | 7.65415174 |
| 12 | binding of sperm to zona pellucida (GO:0007339) | 7.27970959 |
| 13 | reproduction (GO:0000003) | 7.16013651 |
| 14 | rRNA methylation (GO:0031167) | 7.13451932 |
| 15 | microtubule polymerization or depolymerization (GO:0031109) | 6.88085473 |
| 16 | sexual reproduction (GO:0019953) | 6.81490751 |
| 17 | protein polyglutamylation (GO:0018095) | 6.79816669 |
| 18 | calcium ion-dependent exocytosis (GO:0017156) | 6.63103211 |
| 19 | cell-cell recognition (GO:0009988) | 6.44075188 |
| 20 | spermatogenesis (GO:0007283) | 6.24421252 |
| 21 | rRNA modification (GO:0000154) | 6.24286744 |
| 22 | male gamete generation (GO:0048232) | 6.22419837 |
| 23 | protein targeting to Golgi (GO:0000042) | 6.13046449 |
| 24 | axonemal dynein complex assembly (GO:0070286) | 6.01731531 |
| 25 | cellular ketone body metabolic process (GO:0046950) | 5.98676450 |
| 26 | negative regulation of inclusion body assembly (GO:0090084) | 5.92386444 |
| 27 | establishment of protein localization to Golgi (GO:0072600) | 5.91848014 |
| 28 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.72937456 |
| 29 | gamete generation (GO:0007276) | 5.71050064 |
| 30 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.68199787 |
| 31 | centriole replication (GO:0007099) | 5.68060331 |
| 32 | microtubule severing (GO:0051013) | 5.48315051 |
| 33 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 5.29379825 |
| 34 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.27490263 |
| 35 | ketone body metabolic process (GO:1902224) | 5.26348086 |
| 36 | single fertilization (GO:0007338) | 5.18188191 |
| 37 | chromatin silencing (GO:0006342) | 5.00860396 |
| 38 | cell wall macromolecule catabolic process (GO:0016998) | 4.98865647 |
| 39 | positive regulation of Rab GTPase activity (GO:0032851) | 4.92372879 |
| 40 | regulation of Rab GTPase activity (GO:0032313) | 4.92372879 |
| 41 | cell wall macromolecule metabolic process (GO:0044036) | 4.87697024 |
| 42 | regulation of cilium movement (GO:0003352) | 4.78157646 |
| 43 | centriole assembly (GO:0098534) | 4.73969837 |
| 44 | germ cell development (GO:0007281) | 4.62400470 |
| 45 | multicellular organismal reproductive process (GO:0048609) | 4.54697105 |
| 46 | protein localization to Golgi apparatus (GO:0034067) | 4.53962402 |
| 47 | motile cilium assembly (GO:0044458) | 4.47940887 |
| 48 | regulation of inclusion body assembly (GO:0090083) | 4.46233806 |
| 49 | regulation of centriole replication (GO:0046599) | 4.42834742 |
| 50 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.33356522 |
| 51 | RNA destabilization (GO:0050779) | 4.32985754 |
| 52 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.32651680 |
| 53 | fertilization (GO:0009566) | 4.29818330 |
| 54 | seminiferous tubule development (GO:0072520) | 4.16594631 |
| 55 | glomerular visceral epithelial cell development (GO:0072015) | 4.11747266 |
| 56 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.11131322 |
| 57 | epithelial cilium movement (GO:0003351) | 4.09443705 |
| 58 | nucleus organization (GO:0006997) | 4.07908557 |
| 59 | coenzyme catabolic process (GO:0009109) | 4.07594085 |
| 60 | glomerular epithelial cell development (GO:0072310) | 3.87776511 |
| 61 | glycerol ether metabolic process (GO:0006662) | 3.86133737 |
| 62 | histone H3-K9 demethylation (GO:0033169) | 3.61911550 |
| 63 | ether metabolic process (GO:0018904) | 3.54705106 |
| 64 | response to acidic pH (GO:0010447) | 3.54251139 |
| 65 | cilium movement (GO:0003341) | 3.48427603 |
| 66 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.47587758 |
| 67 | male meiosis I (GO:0007141) | 3.45899282 |
| 68 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.45885069 |
| 69 | cellular response to pH (GO:0071467) | 3.41603055 |
| 70 | musculoskeletal movement (GO:0050881) | 3.36592941 |
| 71 | multicellular organismal movement (GO:0050879) | 3.36592941 |
| 72 | organic cation transport (GO:0015695) | 3.19100046 |
| 73 | male meiosis (GO:0007140) | 3.10417290 |
| 74 | microtubule nucleation (GO:0007020) | 3.08538789 |
| 75 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.07103668 |
| 76 | polyamine biosynthetic process (GO:0006596) | 3.05782379 |
| 77 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 3.01761525 |
| 78 | cell recognition (GO:0008037) | 3.00464230 |
| 79 | multicellular organismal development (GO:0007275) | 2.99899138 |
| 80 | regulation of microtubule-based movement (GO:0060632) | 2.95911167 |
| 81 | DNA conformation change (GO:0071103) | 2.95513770 |
| 82 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 2.93912879 |
| 83 | cerebral cortex neuron differentiation (GO:0021895) | 2.92770795 |
| 84 | receptor recycling (GO:0001881) | 2.92622183 |
| 85 | NAD biosynthetic process (GO:0009435) | 2.92303834 |
| 86 | nucleosome disassembly (GO:0006337) | 2.87342822 |
| 87 | protein-DNA complex disassembly (GO:0032986) | 2.87342822 |
| 88 | peptidyl-proline hydroxylation (GO:0019511) | 2.85137003 |
| 89 | membrane protein intracellular domain proteolysis (GO:0031293) | 2.84061626 |
| 90 | protein depolymerization (GO:0051261) | 2.84000812 |
| 91 | piRNA metabolic process (GO:0034587) | 2.82555841 |
| 92 | histone exchange (GO:0043486) | 2.76596369 |
| 93 | regulation of interleukin-13 production (GO:0032656) | 2.75172812 |
| 94 | regulation of T-helper 2 cell differentiation (GO:0045628) | 2.74787796 |
| 95 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 2.74310200 |
| 96 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 2.74310200 |
| 97 | cell differentiation involved in metanephros development (GO:0072202) | 2.72905483 |
| 98 | acrosome reaction (GO:0007340) | 12.2382357 |
| 99 | sperm motility (GO:0030317) | 11.2645639 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.9796338 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.83906588 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 4.55074274 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.42531490 |
| 4 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.42568808 |
| 5 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.28768538 |
| 6 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.28768538 |
| 7 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.23959903 |
| 8 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.23959903 |
| 9 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.16374617 |
| 10 | ERA_21632823_ChIP-Seq_H3396_Human | 2.15519335 |
| 11 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.08291366 |
| 12 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.06524942 |
| 13 | FUS_26573619_Chip-Seq_HEK293_Human | 2.00868821 |
| 14 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 2.00334866 |
| 15 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.94318088 |
| 16 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.93685519 |
| 17 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.93150281 |
| 18 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.92627839 |
| 19 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.90593387 |
| 20 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.90088286 |
| 21 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.85296069 |
| 22 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.83786187 |
| 23 | * RAC3_21632823_ChIP-Seq_H3396_Human | 1.81267169 |
| 24 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.79597668 |
| 25 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.76106002 |
| 26 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.75089937 |
| 27 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.67444476 |
| 28 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.67240655 |
| 29 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.66871541 |
| 30 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.63534459 |
| 31 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.63347408 |
| 32 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.59552911 |
| 33 | AR_25329375_ChIP-Seq_VCAP_Human | 1.56080468 |
| 34 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.55677171 |
| 35 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.54849043 |
| 36 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.54600789 |
| 37 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.53820089 |
| 38 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.53262888 |
| 39 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.50522421 |
| 40 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.50496994 |
| 41 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.50309844 |
| 42 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.50202014 |
| 43 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.50174635 |
| 44 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.49577190 |
| 45 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.46993784 |
| 46 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.46208521 |
| 47 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.45018324 |
| 48 | P300_19829295_ChIP-Seq_ESCs_Human | 1.44258938 |
| 49 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.42777431 |
| 50 | P300_27268052_Chip-Seq_Bcells_Human | 1.41565433 |
| 51 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.41221865 |
| 52 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.41081728 |
| 53 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.40873979 |
| 54 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.40511726 |
| 55 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.38167100 |
| 56 | NFYB_21822215_ChIP-Seq_K562_Human | 1.36829734 |
| 57 | VDR_22108803_ChIP-Seq_LS180_Human | 1.35562383 |
| 58 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.35226797 |
| 59 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.34337745 |
| 60 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.33345270 |
| 61 | P68_20966046_ChIP-Seq_HELA_Human | 1.33197026 |
| 62 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.32700770 |
| 63 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.31663342 |
| 64 | TBL1_22424771_ChIP-Seq_293T_Human | 1.31492755 |
| 65 | * TP63_22573176_ChIP-Seq_HFKS_Human | 1.31359428 |
| 66 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.29542207 |
| 67 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.29115990 |
| 68 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.28555199 |
| 69 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.25139148 |
| 70 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.24924312 |
| 71 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.24750044 |
| 72 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.24023814 |
| 73 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.24023814 |
| 74 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.21984341 |
| 75 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.21329567 |
| 76 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.20860573 |
| 77 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.20311425 |
| 78 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.18704938 |
| 79 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.16679931 |
| 80 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.16131238 |
| 81 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.15416473 |
| 82 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.15045042 |
| 83 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.11134761 |
| 84 | * P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.09317067 |
| 85 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.08115209 |
| 86 | SA1_27219007_Chip-Seq_Bcells_Human | 1.08005301 |
| 87 | NFYA_21822215_ChIP-Seq_K562_Human | 1.07232276 |
| 88 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.06977119 |
| 89 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.06670011 |
| 90 | STAT3_23295773_ChIP-Seq_U87_Human | 1.06506839 |
| 91 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.05960647 |
| 92 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.05955288 |
| 93 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.05675894 |
| 94 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.04915755 |
| 95 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.04665533 |
| 96 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.04056523 |
| 97 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.02614873 |
| 98 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.01455135 |
| 99 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 0.99936155 |
| 100 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 0.99899829 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003878_abnormal_ear_physiology | 5.06011138 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 5.06011138 |
| 3 | MP0003698_abnormal_male_reproductive | 4.27195246 |
| 4 | MP0001929_abnormal_gametogenesis | 3.86930600 |
| 5 | MP0005670_abnormal_white_adipose | 3.80473580 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.57564590 |
| 7 | MP0003718_maternal_effect | 2.53912487 |
| 8 | MP0003011_delayed_dark_adaptation | 2.46159191 |
| 9 | MP0005379_endocrine/exocrine_gland_phen | 2.39936288 |
| 10 | MP0000678_abnormal_parathyroid_gland | 2.39026832 |
| 11 | MP0002161_abnormal_fertility/fecundity | 2.36780109 |
| 12 | MP0002132_abnormal_respiratory_system | 2.15874813 |
| 13 | MP0005423_abnormal_somatic_nervous | 2.10406334 |
| 14 | MP0005410_abnormal_fertilization | 11.7191425 |
| 15 | MP0002210_abnormal_sex_determination | 1.90826522 |
| 16 | MP0002234_abnormal_pharynx_morphology | 1.79898765 |
| 17 | MP0002282_abnormal_trachea_morphology | 1.76560285 |
| 18 | MP0002249_abnormal_larynx_morphology | 1.70252334 |
| 19 | MP0003646_muscle_fatigue | 1.69695062 |
| 20 | MP0008877_abnormal_DNA_methylation | 1.67517809 |
| 21 | MP0001968_abnormal_touch/_nociception | 1.64024375 |
| 22 | MP0001485_abnormal_pinna_reflex | 1.60748853 |
| 23 | MP0001486_abnormal_startle_reflex | 1.50580923 |
| 24 | MP0001145_abnormal_male_reproductive | 1.46802762 |
| 25 | MP0000653_abnormal_sex_gland | 1.43426626 |
| 26 | MP0002735_abnormal_chemical_nociception | 1.41675266 |
| 27 | MP0009053_abnormal_anal_canal | 1.36055338 |
| 28 | MP0006292_abnormal_olfactory_placode | 1.32262817 |
| 29 | MP0004742_abnormal_vestibular_system | 1.31997553 |
| 30 | MP0003879_abnormal_hair_cell | 1.23065448 |
| 31 | MP0005395_other_phenotype | 1.19499446 |
| 32 | MP0005310_abnormal_salivary_gland | 1.16757011 |
| 33 | MP0001765_abnormal_ion_homeostasis | 1.15954628 |
| 34 | MP0000049_abnormal_middle_ear | 1.11436769 |
| 35 | MP0002822_catalepsy | 1.09780877 |
| 36 | MP0001963_abnormal_hearing_physiology | 1.08657752 |
| 37 | MP0005551_abnormal_eye_electrophysiolog | 1.06433473 |
| 38 | MP0009697_abnormal_copulation | 1.06121737 |
| 39 | MP0002138_abnormal_hepatobiliary_system | 1.02137777 |
| 40 | MP0000534_abnormal_ureter_morphology | 1.00818683 |
| 41 | MP0006276_abnormal_autonomic_nervous | 1.00457027 |
| 42 | MP0000681_abnormal_thyroid_gland | 0.97994638 |
| 43 | MP0000026_abnormal_inner_ear | 0.96868925 |
| 44 | MP0002127_abnormal_cardiovascular_syste | 0.90982836 |
| 45 | MP0002733_abnormal_thermal_nociception | 0.87454309 |
| 46 | MP0004510_myositis | 0.87442586 |
| 47 | MP0002229_neurodegeneration | 0.87280478 |
| 48 | MP0003950_abnormal_plasma_membrane | 0.87027680 |
| 49 | MP0004859_abnormal_synaptic_plasticity | 0.84280155 |
| 50 | MP0004270_analgesia | 0.81827132 |
| 51 | MP0009745_abnormal_behavioral_response | 0.75065221 |
| 52 | MP0002067_abnormal_sensory_capabilities | 0.72508819 |
| 53 | MP0001970_abnormal_pain_threshold | 0.71882505 |
| 54 | MP0002557_abnormal_social/conspecific_i | 0.70943393 |
| 55 | MP0001984_abnormal_olfaction | 0.68869821 |
| 56 | MP0000372_irregular_coat_pigmentation | 0.68866039 |
| 57 | MP0005248_abnormal_Harderian_gland | 0.68195316 |
| 58 | MP0005636_abnormal_mineral_homeostasis | 0.68085739 |
| 59 | MP0003077_abnormal_cell_cycle | 0.67901887 |
| 60 | MP0005084_abnormal_gallbladder_morpholo | 0.65592593 |
| 61 | MP0002254_reproductive_system_inflammat | 0.64916633 |
| 62 | MP0001501_abnormal_sleep_pattern | 0.64521383 |
| 63 | MP0004085_abnormal_heartbeat | 0.64489427 |
| 64 | MP0002928_abnormal_bile_duct | 0.62618775 |
| 65 | MP0005451_abnormal_body_composition | 0.61863110 |
| 66 | MP0001293_anophthalmia | 0.59808044 |
| 67 | MP0000955_abnormal_spinal_cord | 0.59182761 |
| 68 | MP0003880_abnormal_central_pattern | 0.58119041 |
| 69 | MP0002734_abnormal_mechanical_nocicepti | 0.58020483 |
| 70 | MP0009115_abnormal_fat_cell | 0.57937719 |
| 71 | MP0008569_lethality_at_weaning | 0.56243069 |
| 72 | MP0003936_abnormal_reproductive_system | 0.55854790 |
| 73 | MP0002163_abnormal_gland_morphology | 0.54699479 |
| 74 | MP0001905_abnormal_dopamine_level | 0.54277656 |
| 75 | MP0002572_abnormal_emotion/affect_behav | 0.54043444 |
| 76 | MP0010386_abnormal_urinary_bladder | 0.53975678 |
| 77 | MP0005253_abnormal_eye_physiology | 0.53593432 |
| 78 | MP0002272_abnormal_nervous_system | 0.53286470 |
| 79 | MP0000230_abnormal_systemic_arterial | 0.52353606 |
| 80 | MP0008789_abnormal_olfactory_epithelium | 0.51325063 |
| 81 | MP0001440_abnormal_grooming_behavior | 0.50438592 |
| 82 | MP0000516_abnormal_urinary_system | 0.50047163 |
| 83 | MP0005367_renal/urinary_system_phenotyp | 0.50047163 |
| 84 | MP0001270_distended_abdomen | 0.49290568 |
| 85 | MP0000470_abnormal_stomach_morphology | 0.48414581 |
| 86 | MP0005332_abnormal_amino_acid | 0.45226752 |
| 87 | MP0002653_abnormal_ependyma_morphology | 0.44555463 |
| 88 | MP0003137_abnormal_impulse_conducting | 0.43845690 |
| 89 | MP0001666_abnormal_nutrient_absorption | 0.43391701 |
| 90 | MP0003699_abnormal_female_reproductive | 0.43099945 |
| 91 | MP0001879_abnormal_lymphatic_vessel | 0.40458279 |
| 92 | MP0008995_early_reproductive_senescence | 0.40209801 |
| 93 | MP0005535_abnormal_body_temperature | 0.37999536 |
| 94 | MP0000467_abnormal_esophagus_morphology | 0.37551618 |
| 95 | MP0003119_abnormal_digestive_system | 0.35130728 |
| 96 | MP0003938_abnormal_ear_development | 0.34603144 |
| 97 | MP0002168_other_aberrant_phenotype | 0.34467183 |
| 98 | MP0005391_vision/eye_phenotype | 0.34244383 |
| 99 | MP0003136_yellow_coat_color | 0.33947157 |
| 100 | MP0010329_abnormal_lipoprotein_level | 0.33879449 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 9.12805354 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.82641667 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 5.82641667 |
| 4 | Attenuation of retinal blood vessels (HP:0007843) | 5.17989397 |
| 5 | Bony spicule pigmentary retinopathy (HP:0007737) | 5.14869522 |
| 6 | Asymmetric septal hypertrophy (HP:0001670) | 4.58525395 |
| 7 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.35835680 |
| 8 | Abnormal ciliary motility (HP:0012262) | 4.34285085 |
| 9 | Chronic hepatic failure (HP:0100626) | 4.33916266 |
| 10 | Tubulointerstitial nephritis (HP:0001970) | 4.33292029 |
| 11 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.29353974 |
| 12 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.17968190 |
| 13 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.17968190 |
| 14 | Abnormality of macular pigmentation (HP:0008002) | 3.97525665 |
| 15 | Infertility (HP:0000789) | 3.92013595 |
| 16 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.76930290 |
| 17 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.76805807 |
| 18 | Resting tremor (HP:0002322) | 3.69795368 |
| 19 | Bell-shaped thorax (HP:0001591) | 3.68661944 |
| 20 | Male infertility (HP:0003251) | 3.68275825 |
| 21 | Cone-rod dystrophy (HP:0000548) | 3.66423061 |
| 22 | Azoospermia (HP:0000027) | 3.61651118 |
| 23 | Hyperkalemia (HP:0002153) | 3.58288490 |
| 24 | Potter facies (HP:0002009) | 3.57644308 |
| 25 | Facial shape deformation (HP:0011334) | 3.57644308 |
| 26 | Enlarged epiphyses (HP:0010580) | 3.54666766 |
| 27 | Nasal polyposis (HP:0100582) | 3.50932875 |
| 28 | Abnormal spermatogenesis (HP:0008669) | 3.43710065 |
| 29 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.35077754 |
| 30 | Abnormality of dental color (HP:0011073) | 3.30085871 |
| 31 | Hypoplastic ischia (HP:0003175) | 3.20733170 |
| 32 | Hypoplasia of the thymus (HP:0000778) | 3.02213857 |
| 33 | Impulsivity (HP:0100710) | 2.94199296 |
| 34 | Progressive sensorineural hearing impairment (HP:0000408) | 2.93245056 |
| 35 | Abnormality of the ischium (HP:0003174) | 2.76951653 |
| 36 | Amelogenesis imperfecta (HP:0000705) | 2.74854063 |
| 37 | Rhinitis (HP:0012384) | 2.73681291 |
| 38 | Abnormal urine output (HP:0012590) | 2.73466438 |
| 39 | Abnormality of the nasal mucosa (HP:0000433) | 2.70176570 |
| 40 | Recurrent corneal erosions (HP:0000495) | 2.68102721 |
| 41 | Abnormality of the aortic arch (HP:0012303) | 2.64704809 |
| 42 | Nephronophthisis (HP:0000090) | 2.63877942 |
| 43 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.60963740 |
| 44 | Polydipsia (HP:0001959) | 2.57906667 |
| 45 | Abnormal drinking behavior (HP:0030082) | 2.57906667 |
| 46 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.48645408 |
| 47 | Stage 5 chronic kidney disease (HP:0003774) | 2.48621915 |
| 48 | Renal dysplasia (HP:0000110) | 2.48401919 |
| 49 | Hypophosphatemic rickets (HP:0004912) | 2.47155355 |
| 50 | Hyperthyroidism (HP:0000836) | 2.46905507 |
| 51 | Congenital malformation of the right heart (HP:0011723) | 2.41531229 |
| 52 | Double outlet right ventricle (HP:0001719) | 2.41531229 |
| 53 | Unilateral renal agenesis (HP:0000122) | 2.39092303 |
| 54 | Hypoalbuminemia (HP:0003073) | 2.36835738 |
| 55 | Abnormal albumin level (HP:0012116) | 2.36835738 |
| 56 | Abnormality of the renal medulla (HP:0100957) | 2.35258412 |
| 57 | Generalized aminoaciduria (HP:0002909) | 2.34737825 |
| 58 | Abnormality of renal excretion (HP:0011036) | 2.33388076 |
| 59 | Polyuria (HP:0000103) | 2.32595915 |
| 60 | Abnormality of potassium homeostasis (HP:0011042) | 2.28273920 |
| 61 | Portal hypertension (HP:0001409) | 2.27643549 |
| 62 | Abnormality of the parathyroid morphology (HP:0011766) | 2.27209326 |
| 63 | Sensory axonal neuropathy (HP:0003390) | 2.27108889 |
| 64 | Hypoparathyroidism (HP:0000829) | 2.26696409 |
| 65 | Progressive cerebellar ataxia (HP:0002073) | 2.25389870 |
| 66 | Renal Fanconi syndrome (HP:0001994) | 2.20403710 |
| 67 | Tetany (HP:0001281) | 2.19183894 |
| 68 | Hypoalphalipoproteinemia (HP:0003233) | 2.17039423 |
| 69 | Renovascular hypertension (HP:0100817) | 2.15364725 |
| 70 | Tubulointerstitial abnormality (HP:0001969) | 2.15201992 |
| 71 | Spastic paraparesis (HP:0002313) | 2.12661179 |
| 72 | Pancreatic fibrosis (HP:0100732) | 2.12073092 |
| 73 | Abnormality of the costochondral junction (HP:0000919) | 2.11228722 |
| 74 | Postural instability (HP:0002172) | 2.10527553 |
| 75 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 2.08835983 |
| 76 | Abnormality of the hepatic vasculature (HP:0006707) | 2.06165874 |
| 77 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 2.05727327 |
| 78 | Absent epiphyses (HP:0010577) | 2.05727327 |
| 79 | Bronchiectasis (HP:0002110) | 2.04554665 |
| 80 | Truncal obesity (HP:0001956) | 2.04479580 |
| 81 | Optic nerve hypoplasia (HP:0000609) | 2.02734161 |
| 82 | Muscle fiber atrophy (HP:0100295) | 2.02492055 |
| 83 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 2.02086942 |
| 84 | Median cleft lip (HP:0000161) | 2.01628763 |
| 85 | Flat capital femoral epiphysis (HP:0003370) | 1.99028005 |
| 86 | Hyponatremia (HP:0002902) | 1.98779964 |
| 87 | Abnormality of the femoral head (HP:0003368) | 1.97367676 |
| 88 | Horizontal nystagmus (HP:0000666) | 1.96999772 |
| 89 | Pendular nystagmus (HP:0012043) | 1.95312679 |
| 90 | Chronic bronchitis (HP:0004469) | 1.93458934 |
| 91 | Scotoma (HP:0000575) | 1.93300864 |
| 92 | Flattened epiphyses (HP:0003071) | 1.93005726 |
| 93 | Tubular atrophy (HP:0000092) | 1.92834282 |
| 94 | Osteomalacia (HP:0002749) | 1.91841249 |
| 95 | Abnormality of femoral epiphyses (HP:0006499) | 1.89743086 |
| 96 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 1.89743086 |
| 97 | Decreased central vision (HP:0007663) | 1.87436761 |
| 98 | Congenital sensorineural hearing impairment (HP:0008527) | 1.87349170 |
| 99 | Photophobia (HP:0000613) | 1.87146140 |
| 100 | Cerebellar dysplasia (HP:0007033) | 1.84679655 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 8.27745143 |
| 2 | TESK1 | 4.72585441 |
| 3 | MAP4K2 | 4.52850489 |
| 4 | DDR2 | 4.03916992 |
| 5 | INSRR | 3.84892323 |
| 6 | PLK2 | 3.41475912 |
| 7 | PNCK | 3.21598198 |
| 8 | TRIM28 | 2.85319960 |
| 9 | STK38 | 2.52162605 |
| 10 | BRD4 | 2.28254402 |
| 11 | WNK1 | 2.07122288 |
| 12 | MAPK15 | 2.00283564 |
| 13 | PRKD3 | 1.98376837 |
| 14 | STK38L | 1.97643575 |
| 15 | CAMK1G | 1.92181367 |
| 16 | STK39 | 1.91687965 |
| 17 | PIK3CG | 1.85584409 |
| 18 | WNK4 | 1.81021435 |
| 19 | MAP3K9 | 1.65462201 |
| 20 | BRSK2 | 1.54628109 |
| 21 | CDK12 | 1.53309480 |
| 22 | BMPR1B | 1.50895443 |
| 23 | MST1R | 1.41062168 |
| 24 | CDK7 | 1.33206995 |
| 25 | OXSR1 | 1.25700074 |
| 26 | MUSK | 1.21102126 |
| 27 | PDPK1 | 1.21086904 |
| 28 | PDK1 | 1.20202393 |
| 29 | NEK6 | 1.12906906 |
| 30 | BRSK1 | 1.03910742 |
| 31 | DYRK1B | 0.97960632 |
| 32 | MAP3K11 | 0.91942746 |
| 33 | LATS2 | 0.91405673 |
| 34 | MATK | 0.91340440 |
| 35 | PTK2B | 0.85334722 |
| 36 | FRK | 0.84112346 |
| 37 | BRAF | 0.83416456 |
| 38 | AKT3 | 0.79328944 |
| 39 | PRKAA2 | 0.75773874 |
| 40 | ARAF | 0.74816823 |
| 41 | KSR2 | 0.70111080 |
| 42 | TNIK | 0.56904870 |
| 43 | MAP3K1 | 0.54828521 |
| 44 | ROCK1 | 0.54665427 |
| 45 | TAF1 | 0.52055815 |
| 46 | PRKG1 | 0.50456893 |
| 47 | PKN1 | 0.47564144 |
| 48 | CDK3 | 0.46227677 |
| 49 | PRKG2 | 0.43335886 |
| 50 | SIK2 | 0.43001594 |
| 51 | RPS6KA1 | 0.42738430 |
| 52 | CAMK1 | 0.42141190 |
| 53 | MAP3K8 | 0.41084673 |
| 54 | TLK1 | 0.38852184 |
| 55 | TYRO3 | 0.38585612 |
| 56 | CDK1 | 0.37066990 |
| 57 | GSK3B | 0.36808697 |
| 58 | MET | 0.36550316 |
| 59 | PASK | 0.36435759 |
| 60 | PRKCG | 0.35486516 |
| 61 | MAP3K13 | 0.35281981 |
| 62 | CDK2 | 0.34921594 |
| 63 | MAPK1 | 0.32098814 |
| 64 | MAP3K2 | 0.29647197 |
| 65 | UHMK1 | 0.29634461 |
| 66 | CHEK1 | 0.28575206 |
| 67 | PINK1 | 0.28527330 |
| 68 | CAMK1D | 0.28253970 |
| 69 | NTRK1 | 0.28046159 |
| 70 | AURKA | 0.23730142 |
| 71 | MTOR | 0.23542395 |
| 72 | KIT | 0.20414700 |
| 73 | PRKCZ | 0.20300749 |
| 74 | IKBKB | 0.20106470 |
| 75 | PRKCQ | 0.19671955 |
| 76 | MAPK14 | 0.19643890 |
| 77 | PLK1 | 0.17884386 |
| 78 | JAK3 | 0.16869512 |
| 79 | PRKCE | 0.16575476 |
| 80 | MAPK8 | 0.16176949 |
| 81 | SGK1 | 0.15426023 |
| 82 | ADRBK2 | 0.14669391 |
| 83 | CDK4 | 0.14421951 |
| 84 | TIE1 | 0.13944468 |
| 85 | PRKCB | 0.13891819 |
| 86 | AKT1 | 0.13757100 |
| 87 | FER | 0.13351870 |
| 88 | RPS6KA2 | 0.12930984 |
| 89 | PRKAA1 | 0.11718205 |
| 90 | TESK2 | 0.10516162 |
| 91 | MKNK2 | 0.09934470 |
| 92 | DYRK2 | 0.09809153 |
| 93 | MST4 | 0.09116658 |
| 94 | MARK1 | 0.08974847 |
| 95 | PRKACA | 0.08909095 |
| 96 | MAP3K10 | 0.08839310 |
| 97 | PRKACB | 0.08569246 |
| 98 | CDK19 | 0.08247083 |
| 99 | IGF1R | 0.07114693 |
| 100 | CAMKK2 | 0.07011059 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 8.82971587 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 4.83557305 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 4.02965009 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.95615677 |
| 5 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 2.18718676 |
| 6 | Allograft rejection_Homo sapiens_hsa05330 | 2.11909750 |
| 7 | Graft-versus-host disease_Homo sapiens_hsa05332 | 2.08695571 |
| 8 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 2.00104065 |
| 9 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.81997797 |
| 10 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.79999575 |
| 11 | RNA transport_Homo sapiens_hsa03013 | 1.77384662 |
| 12 | Taste transduction_Homo sapiens_hsa04742 | 1.77203797 |
| 13 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.74158537 |
| 14 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.46417560 |
| 15 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.39336570 |
| 16 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.39246511 |
| 17 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.37754775 |
| 18 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.26815289 |
| 19 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.26354521 |
| 20 | Basal transcription factors_Homo sapiens_hsa03022 | 1.25682130 |
| 21 | Salivary secretion_Homo sapiens_hsa04970 | 1.24730029 |
| 22 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.24618488 |
| 23 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.21060121 |
| 24 | Phototransduction_Homo sapiens_hsa04744 | 1.19380732 |
| 25 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.16771646 |
| 26 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.15367629 |
| 27 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.13805664 |
| 28 | Viral myocarditis_Homo sapiens_hsa05416 | 1.13275062 |
| 29 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.11699008 |
| 30 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.11159352 |
| 31 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.09233440 |
| 32 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.04768840 |
| 33 | Endocytosis_Homo sapiens_hsa04144 | 1.02461512 |
| 34 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.02340182 |
| 35 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.99981928 |
| 36 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.96334558 |
| 37 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.90635420 |
| 38 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.90417354 |
| 39 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.90329770 |
| 40 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.88564489 |
| 41 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.86690072 |
| 42 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.86114587 |
| 43 | Retinol metabolism_Homo sapiens_hsa00830 | 0.85724484 |
| 44 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.84262448 |
| 45 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.83846921 |
| 46 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.83006023 |
| 47 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.81911409 |
| 48 | Purine metabolism_Homo sapiens_hsa00230 | 0.79711409 |
| 49 | Influenza A_Homo sapiens_hsa05164 | 0.78640417 |
| 50 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.73772715 |
| 51 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.70457719 |
| 52 | Nicotine addiction_Homo sapiens_hsa05033 | 0.69252387 |
| 53 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.67144310 |
| 54 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.64172599 |
| 55 | Insulin secretion_Homo sapiens_hsa04911 | 0.63979442 |
| 56 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.63171196 |
| 57 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.56820963 |
| 58 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.56092136 |
| 59 | Morphine addiction_Homo sapiens_hsa05032 | 0.53534072 |
| 60 | ABC transporters_Homo sapiens_hsa02010 | 0.50133662 |
| 61 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.49591469 |
| 62 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.49275141 |
| 63 | Circadian entrainment_Homo sapiens_hsa04713 | 0.48461756 |
| 64 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.47084288 |
| 65 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.45802124 |
| 66 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.44615341 |
| 67 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.44463329 |
| 68 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.42678669 |
| 69 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.40385324 |
| 70 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.38510032 |
| 71 | Legionellosis_Homo sapiens_hsa05134 | 0.36863720 |
| 72 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.36171072 |
| 73 | Huntingtons disease_Homo sapiens_hsa05016 | 0.35923181 |
| 74 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.35748485 |
| 75 | Renin secretion_Homo sapiens_hsa04924 | 0.33941741 |
| 76 | Circadian rhythm_Homo sapiens_hsa04710 | 0.33744208 |
| 77 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.33337488 |
| 78 | Metabolic pathways_Homo sapiens_hsa01100 | 0.31197674 |
| 79 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.29845488 |
| 80 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.29614035 |
| 81 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.29564463 |
| 82 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.29301630 |
| 83 | Bile secretion_Homo sapiens_hsa04976 | 0.28815264 |
| 84 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.27518201 |
| 85 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.27428981 |
| 86 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.25532971 |
| 87 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.25008007 |
| 88 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.24677128 |
| 89 | Homologous recombination_Homo sapiens_hsa03440 | 0.24054805 |
| 90 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.23057453 |
| 91 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.23049792 |
| 92 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.22978878 |
| 93 | Peroxisome_Homo sapiens_hsa04146 | 0.22349865 |
| 94 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.19999328 |
| 95 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.19079060 |
| 96 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.18668985 |
| 97 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.18625251 |
| 98 | RNA polymerase_Homo sapiens_hsa03020 | 0.17810975 |
| 99 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.17660506 |
| 100 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.17650864 |

