

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm capacitation (GO:0048240) | 9.11079463 |
| 2 | chromosome condensation (GO:0030261) | 9.04733587 |
| 3 | DNA packaging (GO:0006323) | 8.76686965 |
| 4 | single strand break repair (GO:0000012) | 8.51605439 |
| 5 | spermatid nucleus differentiation (GO:0007289) | 8.45901636 |
| 6 | plasma membrane fusion (GO:0045026) | 7.95581642 |
| 7 | spermatid development (GO:0007286) | 7.71820034 |
| 8 | microtubule depolymerization (GO:0007019) | 7.57100858 |
| 9 | sperm-egg recognition (GO:0035036) | 7.11205494 |
| 10 | multicellular organism reproduction (GO:0032504) | 6.63743795 |
| 11 | axonemal dynein complex assembly (GO:0070286) | 6.58861781 |
| 12 | protein polyglutamylation (GO:0018095) | 6.54977892 |
| 13 | binding of sperm to zona pellucida (GO:0007339) | 6.40573748 |
| 14 | sexual reproduction (GO:0019953) | 6.39516875 |
| 15 | rRNA methylation (GO:0031167) | 6.36219856 |
| 16 | calcium ion-dependent exocytosis (GO:0017156) | 6.34308266 |
| 17 | reproduction (GO:0000003) | 6.34054673 |
| 18 | microtubule polymerization or depolymerization (GO:0031109) | 6.30815362 |
| 19 | protein targeting to Golgi (GO:0000042) | 6.11799377 |
| 20 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.09077853 |
| 21 | establishment of protein localization to Golgi (GO:0072600) | 5.92951768 |
| 22 | cell-cell recognition (GO:0009988) | 5.83540216 |
| 23 | negative regulation of inclusion body assembly (GO:0090084) | 5.73428751 |
| 24 | spermatogenesis (GO:0007283) | 5.73124033 |
| 25 | male gamete generation (GO:0048232) | 5.71325552 |
| 26 | centriole replication (GO:0007099) | 5.69125731 |
| 27 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.68737358 |
| 28 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.62369078 |
| 29 | cellular ketone body metabolic process (GO:0046950) | 5.42991108 |
| 30 | rRNA modification (GO:0000154) | 5.37266012 |
| 31 | regulation of cilium movement (GO:0003352) | 5.33953872 |
| 32 | microtubule severing (GO:0051013) | 5.33259259 |
| 33 | regulation of Rab GTPase activity (GO:0032313) | 5.26657740 |
| 34 | positive regulation of Rab GTPase activity (GO:0032851) | 5.26657740 |
| 35 | gamete generation (GO:0007276) | 5.22840489 |
| 36 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.87486202 |
| 37 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.80792836 |
| 38 | ketone body metabolic process (GO:1902224) | 4.77088268 |
| 39 | motile cilium assembly (GO:0044458) | 4.76381968 |
| 40 | chromatin silencing (GO:0006342) | 4.74504776 |
| 41 | centriole assembly (GO:0098534) | 4.74341776 |
| 42 | cell wall macromolecule catabolic process (GO:0016998) | 4.61046553 |
| 43 | single fertilization (GO:0007338) | 4.55026100 |
| 44 | RNA destabilization (GO:0050779) | 4.54509994 |
| 45 | epithelial cilium movement (GO:0003351) | 4.54329329 |
| 46 | cell wall macromolecule metabolic process (GO:0044036) | 4.54238256 |
| 47 | protein localization to Golgi apparatus (GO:0034067) | 4.51711091 |
| 48 | regulation of centriole replication (GO:0046599) | 4.48331187 |
| 49 | germ cell development (GO:0007281) | 4.37632349 |
| 50 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 4.32455224 |
| 51 | regulation of inclusion body assembly (GO:0090083) | 4.21743083 |
| 52 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.20861314 |
| 53 | multicellular organismal reproductive process (GO:0048609) | 4.16460577 |
| 54 | coenzyme catabolic process (GO:0009109) | 4.04135595 |
| 55 | cilium movement (GO:0003341) | 3.94295533 |
| 56 | nucleus organization (GO:0006997) | 3.90655086 |
| 57 | fertilization (GO:0009566) | 3.80437641 |
| 58 | regulation of microtubule-based movement (GO:0060632) | 3.80434295 |
| 59 | seminiferous tubule development (GO:0072520) | 3.76855878 |
| 60 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.67555984 |
| 61 | musculoskeletal movement (GO:0050881) | 3.56894510 |
| 62 | multicellular organismal movement (GO:0050879) | 3.56894510 |
| 63 | organic cation transport (GO:0015695) | 3.51247486 |
| 64 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.39373717 |
| 65 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.38927083 |
| 66 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.35706076 |
| 67 | regulation of somitogenesis (GO:0014807) | 3.34139587 |
| 68 | glycerol ether metabolic process (GO:0006662) | 3.33696156 |
| 69 | cerebral cortex neuron differentiation (GO:0021895) | 3.33405404 |
| 70 | nucleosome disassembly (GO:0006337) | 3.31280080 |
| 71 | protein-DNA complex disassembly (GO:0032986) | 3.31280080 |
| 72 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.24338714 |
| 73 | negative regulation of mesenchymal cell apoptotic process (GO:2001054) | 3.20830969 |
| 74 | cranial nerve morphogenesis (GO:0021602) | 3.20460884 |
| 75 | polyamine biosynthetic process (GO:0006596) | 3.12579294 |
| 76 | response to acidic pH (GO:0010447) | 3.10629621 |
| 77 | ether metabolic process (GO:0018904) | 3.07174838 |
| 78 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 3.06889827 |
| 79 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 3.06889827 |
| 80 | histone H3-K9 demethylation (GO:0033169) | 3.06385978 |
| 81 | cell recognition (GO:0008037) | 3.03830687 |
| 82 | negative regulation of histone methylation (GO:0031061) | 3.03743360 |
| 83 | cellular response to pH (GO:0071467) | 3.00795161 |
| 84 | microtubule nucleation (GO:0007020) | 2.92228025 |
| 85 | multicellular organismal development (GO:0007275) | 2.91833507 |
| 86 | DNA conformation change (GO:0071103) | 2.88132163 |
| 87 | homeostasis of number of cells within a tissue (GO:0048873) | 2.82888747 |
| 88 | Golgi to endosome transport (GO:0006895) | 2.82850950 |
| 89 | regulation of interleukin-13 production (GO:0032656) | 2.82782913 |
| 90 | protein depolymerization (GO:0051261) | 2.79889193 |
| 91 | histone exchange (GO:0043486) | 2.79111216 |
| 92 | cell differentiation involved in metanephros development (GO:0072202) | 2.78772711 |
| 93 | male meiosis I (GO:0007141) | 2.76586269 |
| 94 | pattern specification involved in kidney development (GO:0061004) | 2.73641043 |
| 95 | spinal cord motor neuron differentiation (GO:0021522) | 2.71459474 |
| 96 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 2.69340300 |
| 97 | acrosome reaction (GO:0007340) | 11.7125255 |
| 98 | sperm motility (GO:0030317) | 11.1681615 |
| 99 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.3699557 |
| 100 | response to pheromone (GO:0019236) | 10.0529171 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.85764690 |
| 2 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.01098129 |
| 3 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 2.69285901 |
| 4 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.52573869 |
| 5 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.52573869 |
| 6 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.48881908 |
| 7 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.47019388 |
| 8 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.25479124 |
| 9 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.24240955 |
| 10 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.24240955 |
| 11 | FUS_26573619_Chip-Seq_HEK293_Human | 2.19667945 |
| 12 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.92321391 |
| 13 | * ERA_21632823_ChIP-Seq_H3396_Human | 1.90549930 |
| 14 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.86768261 |
| 15 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.86710403 |
| 16 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.86691211 |
| 17 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.85796457 |
| 18 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.82609952 |
| 19 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.82465391 |
| 20 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.82245549 |
| 21 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.82167980 |
| 22 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.80253206 |
| 23 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.76604490 |
| 24 | * EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.75955635 |
| 25 | * EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.73121954 |
| 26 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.72908890 |
| 27 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.71301528 |
| 28 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.64905283 |
| 29 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.61216425 |
| 30 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.60311011 |
| 31 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.60213873 |
| 32 | AR_25329375_ChIP-Seq_VCAP_Human | 1.57256246 |
| 33 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.54831651 |
| 34 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.54751096 |
| 35 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.53441478 |
| 36 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.52837254 |
| 37 | * VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.50485503 |
| 38 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.49052974 |
| 39 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.48330645 |
| 40 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.48247872 |
| 41 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.45623045 |
| 42 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.45318197 |
| 43 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.45172890 |
| 44 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.43595291 |
| 45 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.43475674 |
| 46 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.42613895 |
| 47 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.42573175 |
| 48 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.40614043 |
| 49 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.39708030 |
| 50 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.36981548 |
| 51 | * P300_19829295_ChIP-Seq_ESCs_Human | 1.36547553 |
| 52 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.36372317 |
| 53 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.35439630 |
| 54 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.33131253 |
| 55 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.32744817 |
| 56 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.32504659 |
| 57 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.31033355 |
| 58 | P68_20966046_ChIP-Seq_HELA_Human | 1.30363039 |
| 59 | * SMC4_20622854_ChIP-Seq_HELA_Human | 1.30096810 |
| 60 | * SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.29443220 |
| 61 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.28646574 |
| 62 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.28024488 |
| 63 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.27826639 |
| 64 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.27664694 |
| 65 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.26889986 |
| 66 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.26885274 |
| 67 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.26264085 |
| 68 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.25203014 |
| 69 | * GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.24991736 |
| 70 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.24125748 |
| 71 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.23026682 |
| 72 | P300_27268052_Chip-Seq_Bcells_Human | 1.21672983 |
| 73 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.21646210 |
| 74 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.21501783 |
| 75 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.21232232 |
| 76 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.19880809 |
| 77 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.19562549 |
| 78 | NFYB_21822215_ChIP-Seq_K562_Human | 1.19338636 |
| 79 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.18358226 |
| 80 | TBL1_22424771_ChIP-Seq_293T_Human | 1.17797889 |
| 81 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.14576981 |
| 82 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.14421478 |
| 83 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.13149911 |
| 84 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.12951965 |
| 85 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.12951965 |
| 86 | VDR_22108803_ChIP-Seq_LS180_Human | 1.11861247 |
| 87 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.11650018 |
| 88 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.11465782 |
| 89 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.09877603 |
| 90 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.09077443 |
| 91 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.08652611 |
| 92 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.08477545 |
| 93 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.07916550 |
| 94 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.07462429 |
| 95 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.06743244 |
| 96 | STAT3_23295773_ChIP-Seq_U87_Human | 1.06346097 |
| 97 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.06195980 |
| 98 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.05242947 |
| 99 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 1.05186078 |
| 100 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.05168831 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003878_abnormal_ear_physiology | 4.79795841 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 4.79795841 |
| 3 | MP0003698_abnormal_male_reproductive | 4.23766724 |
| 4 | MP0005670_abnormal_white_adipose | 3.92051422 |
| 5 | MP0001929_abnormal_gametogenesis | 3.58969038 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.28475163 |
| 7 | MP0000678_abnormal_parathyroid_gland | 2.42249394 |
| 8 | MP0002161_abnormal_fertility/fecundity | 2.39211578 |
| 9 | MP0003011_delayed_dark_adaptation | 2.25644976 |
| 10 | MP0003718_maternal_effect | 2.15557431 |
| 11 | MP0002234_abnormal_pharynx_morphology | 2.13689253 |
| 12 | MP0005379_endocrine/exocrine_gland_phen | 2.00369086 |
| 13 | MP0005410_abnormal_fertilization | 11.2571243 |
| 14 | MP0005423_abnormal_somatic_nervous | 1.83146125 |
| 15 | MP0002132_abnormal_respiratory_system | 1.79637058 |
| 16 | MP0002822_catalepsy | 1.78005515 |
| 17 | MP0001485_abnormal_pinna_reflex | 1.73437876 |
| 18 | MP0006292_abnormal_olfactory_placode | 1.70388641 |
| 19 | MP0002249_abnormal_larynx_morphology | 1.70256074 |
| 20 | MP0002210_abnormal_sex_determination | 1.69757406 |
| 21 | MP0003646_muscle_fatigue | 1.66850413 |
| 22 | MP0001486_abnormal_startle_reflex | 1.57043276 |
| 23 | MP0002282_abnormal_trachea_morphology | 1.50919656 |
| 24 | MP0009053_abnormal_anal_canal | 1.45097873 |
| 25 | MP0001968_abnormal_touch/_nociception | 1.44760373 |
| 26 | MP0004742_abnormal_vestibular_system | 1.44580022 |
| 27 | MP0003880_abnormal_central_pattern | 1.42132029 |
| 28 | MP0001145_abnormal_male_reproductive | 1.40850939 |
| 29 | MP0002735_abnormal_chemical_nociception | 1.40382259 |
| 30 | MP0000534_abnormal_ureter_morphology | 1.34578411 |
| 31 | MP0000653_abnormal_sex_gland | 1.34460317 |
| 32 | MP0000566_synostosis | 1.30464183 |
| 33 | MP0004859_abnormal_synaptic_plasticity | 1.28781607 |
| 34 | MP0008877_abnormal_DNA_methylation | 1.24833473 |
| 35 | MP0000026_abnormal_inner_ear | 1.21697508 |
| 36 | MP0002138_abnormal_hepatobiliary_system | 1.20199640 |
| 37 | MP0000049_abnormal_middle_ear | 1.19003814 |
| 38 | MP0001963_abnormal_hearing_physiology | 1.15376659 |
| 39 | MP0000955_abnormal_spinal_cord | 1.08414824 |
| 40 | MP0002127_abnormal_cardiovascular_syste | 1.05071129 |
| 41 | MP0005248_abnormal_Harderian_gland | 1.01092478 |
| 42 | MP0002653_abnormal_ependyma_morphology | 1.00287448 |
| 43 | MP0001765_abnormal_ion_homeostasis | 0.99005299 |
| 44 | MP0004510_myositis | 0.97742854 |
| 45 | MP0005551_abnormal_eye_electrophysiolog | 0.94661339 |
| 46 | MP0002557_abnormal_social/conspecific_i | 0.93133529 |
| 47 | MP0005395_other_phenotype | 0.89143203 |
| 48 | MP0000516_abnormal_urinary_system | 0.88747665 |
| 49 | MP0005367_renal/urinary_system_phenotyp | 0.88747665 |
| 50 | MP0002067_abnormal_sensory_capabilities | 0.88603695 |
| 51 | MP0002733_abnormal_thermal_nociception | 0.85165771 |
| 52 | MP0003119_abnormal_digestive_system | 0.83025609 |
| 53 | MP0005310_abnormal_salivary_gland | 0.82785870 |
| 54 | MP0002229_neurodegeneration | 0.82289678 |
| 55 | MP0003879_abnormal_hair_cell | 0.80735998 |
| 56 | MP0005253_abnormal_eye_physiology | 0.77281656 |
| 57 | MP0002572_abnormal_emotion/affect_behav | 0.76401433 |
| 58 | MP0001905_abnormal_dopamine_level | 0.76194813 |
| 59 | MP0004085_abnormal_heartbeat | 0.74586844 |
| 60 | MP0001879_abnormal_lymphatic_vessel | 0.74170486 |
| 61 | MP0009697_abnormal_copulation | 0.74051128 |
| 62 | MP0008995_early_reproductive_senescence | 0.73492035 |
| 63 | MP0005084_abnormal_gallbladder_morpholo | 0.72040061 |
| 64 | MP0009745_abnormal_behavioral_response | 0.72000731 |
| 65 | MP0002272_abnormal_nervous_system | 0.71629168 |
| 66 | MP0000681_abnormal_thyroid_gland | 0.70956930 |
| 67 | MP0005408_hypopigmentation | 0.70570064 |
| 68 | MP0002734_abnormal_mechanical_nocicepti | 0.69014449 |
| 69 | MP0002928_abnormal_bile_duct | 0.68278583 |
| 70 | MP0008569_lethality_at_weaning | 0.66981267 |
| 71 | MP0000569_abnormal_digit_pigmentation | 0.65455344 |
| 72 | MP0001293_anophthalmia | 0.64924394 |
| 73 | MP0001970_abnormal_pain_threshold | 0.64091520 |
| 74 | MP0001440_abnormal_grooming_behavior | 0.61242792 |
| 75 | MP0005636_abnormal_mineral_homeostasis | 0.60077562 |
| 76 | MP0004484_altered_response_of | 0.59373446 |
| 77 | MP0001529_abnormal_vocalization | 0.56782079 |
| 78 | MP0003136_yellow_coat_color | 0.56506388 |
| 79 | MP0001666_abnormal_nutrient_absorption | 0.55647603 |
| 80 | MP0003635_abnormal_synaptic_transmissio | 0.54901010 |
| 81 | MP0006276_abnormal_autonomic_nervous | 0.54799729 |
| 82 | MP0005666_abnormal_adipose_tissue | 0.54769914 |
| 83 | MP0005167_abnormal_blood-brain_barrier | 0.53900954 |
| 84 | MP0000778_abnormal_nervous_system | 0.53262656 |
| 85 | MP0008961_abnormal_basal_metabolism | 0.52406291 |
| 86 | MP0009115_abnormal_fat_cell | 0.51951633 |
| 87 | MP0000613_abnormal_salivary_gland | 0.51354177 |
| 88 | MP0005391_vision/eye_phenotype | 0.51155963 |
| 89 | MP0003936_abnormal_reproductive_system | 0.49948575 |
| 90 | MP0003283_abnormal_digestive_organ | 0.49859362 |
| 91 | MP0003137_abnormal_impulse_conducting | 0.49695150 |
| 92 | MP0001984_abnormal_olfaction | 0.48859341 |
| 93 | MP0003861_abnormal_nervous_system | 0.47651769 |
| 94 | MP0008789_abnormal_olfactory_epithelium | 0.47481480 |
| 95 | MP0002882_abnormal_neuron_morphology | 0.47363470 |
| 96 | MP0005375_adipose_tissue_phenotype | 0.46499179 |
| 97 | MP0003942_abnormal_urinary_system | 0.46228146 |
| 98 | MP0001501_abnormal_sleep_pattern | 0.45989396 |
| 99 | MP0003699_abnormal_female_reproductive | 0.45599323 |
| 100 | MP0002752_abnormal_somatic_nervous | 0.45112779 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 7.76833117 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.10267946 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 6.10267946 |
| 4 | Abnormal ciliary motility (HP:0012262) | 4.92695751 |
| 5 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.88592545 |
| 6 | Attenuation of retinal blood vessels (HP:0007843) | 4.87430535 |
| 7 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.71214197 |
| 8 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.71214197 |
| 9 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.66131117 |
| 10 | Asymmetric septal hypertrophy (HP:0001670) | 4.40851681 |
| 11 | Chronic hepatic failure (HP:0100626) | 4.25816126 |
| 12 | Bell-shaped thorax (HP:0001591) | 4.23534273 |
| 13 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.07061607 |
| 14 | Tubulointerstitial nephritis (HP:0001970) | 4.01370698 |
| 15 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 3.96898729 |
| 16 | Infertility (HP:0000789) | 3.94151047 |
| 17 | Potter facies (HP:0002009) | 3.93188257 |
| 18 | Facial shape deformation (HP:0011334) | 3.93188257 |
| 19 | Hypoplastic ischia (HP:0003175) | 3.87683621 |
| 20 | Hyperkalemia (HP:0002153) | 3.85131937 |
| 21 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.82701246 |
| 22 | Abnormality of macular pigmentation (HP:0008002) | 3.78715159 |
| 23 | Male infertility (HP:0003251) | 3.68447357 |
| 24 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.67053482 |
| 25 | Resting tremor (HP:0002322) | 3.62690890 |
| 26 | Enlarged epiphyses (HP:0010580) | 3.53897369 |
| 27 | Impulsivity (HP:0100710) | 3.47902424 |
| 28 | Nasal polyposis (HP:0100582) | 3.44139206 |
| 29 | Azoospermia (HP:0000027) | 3.42902587 |
| 30 | Abnormality of the ischium (HP:0003174) | 3.39725844 |
| 31 | Abnormal spermatogenesis (HP:0008669) | 3.30947063 |
| 32 | Nephronophthisis (HP:0000090) | 3.24713008 |
| 33 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.22554336 |
| 34 | Abnormal urine output (HP:0012590) | 3.03567880 |
| 35 | Cone-rod dystrophy (HP:0000548) | 3.01235935 |
| 36 | Unilateral renal agenesis (HP:0000122) | 2.93668907 |
| 37 | Renal dysplasia (HP:0000110) | 2.93239045 |
| 38 | Abnormality of the aortic arch (HP:0012303) | 2.91254601 |
| 39 | Abnormal drinking behavior (HP:0030082) | 2.85910013 |
| 40 | Polydipsia (HP:0001959) | 2.85910013 |
| 41 | Congenital malformation of the right heart (HP:0011723) | 2.84821294 |
| 42 | Double outlet right ventricle (HP:0001719) | 2.84821294 |
| 43 | Progressive cerebellar ataxia (HP:0002073) | 2.84258501 |
| 44 | Abnormality of the renal medulla (HP:0100957) | 2.75219049 |
| 45 | Abnormality of the nasal mucosa (HP:0000433) | 2.67552044 |
| 46 | Rhinitis (HP:0012384) | 2.66688175 |
| 47 | Polyuria (HP:0000103) | 2.62397378 |
| 48 | Postural instability (HP:0002172) | 2.62270894 |
| 49 | Abnormality of renal excretion (HP:0011036) | 2.60558222 |
| 50 | Generalized aminoaciduria (HP:0002909) | 2.48792462 |
| 51 | Abnormality of the pubic bones (HP:0003172) | 2.46541018 |
| 52 | Hypoplasia of the thymus (HP:0000778) | 2.44406162 |
| 53 | Amelogenesis imperfecta (HP:0000705) | 2.41196449 |
| 54 | Stage 5 chronic kidney disease (HP:0003774) | 2.38909409 |
| 55 | Abnormality of the parathyroid morphology (HP:0011766) | 2.37762389 |
| 56 | Abnormality of potassium homeostasis (HP:0011042) | 2.33281098 |
| 57 | Absent epiphyses (HP:0010577) | 2.27681687 |
| 58 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 2.27681687 |
| 59 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 2.20550234 |
| 60 | Tubulointerstitial abnormality (HP:0001969) | 2.19824829 |
| 61 | Tetany (HP:0001281) | 2.18912561 |
| 62 | Bronchiectasis (HP:0002110) | 2.14733469 |
| 63 | Renal Fanconi syndrome (HP:0001994) | 2.10456182 |
| 64 | Optic nerve hypoplasia (HP:0000609) | 2.10370422 |
| 65 | Progressive sensorineural hearing impairment (HP:0000408) | 2.10338744 |
| 66 | Abnormality of the costochondral junction (HP:0000919) | 2.10218073 |
| 67 | Truncal obesity (HP:0001956) | 2.04074038 |
| 68 | Decreased central vision (HP:0007663) | 2.03285612 |
| 69 | Abnormality of dental color (HP:0011073) | 2.01195958 |
| 70 | Pancreatic fibrosis (HP:0100732) | 2.00703562 |
| 71 | Tubular atrophy (HP:0000092) | 1.99939929 |
| 72 | Epiphyseal dysplasia (HP:0002656) | 1.98721387 |
| 73 | Occipital encephalocele (HP:0002085) | 1.98245984 |
| 74 | Portal hypertension (HP:0001409) | 1.98222614 |
| 75 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.96762766 |
| 76 | Widely patent fontanelles and sutures (HP:0004492) | 1.94872033 |
| 77 | Flattened epiphyses (HP:0003071) | 1.91807426 |
| 78 | Osteomalacia (HP:0002749) | 1.88012268 |
| 79 | Hypophosphatemic rickets (HP:0004912) | 1.87761243 |
| 80 | Chronic bronchitis (HP:0004469) | 1.87700092 |
| 81 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 1.83714046 |
| 82 | Abnormality of femoral epiphyses (HP:0006499) | 1.83714046 |
| 83 | Myokymia (HP:0002411) | 1.82291580 |
| 84 | Type II lissencephaly (HP:0007260) | 1.82116606 |
| 85 | Hyponatremia (HP:0002902) | 1.81982805 |
| 86 | Hypoalphalipoproteinemia (HP:0003233) | 1.80356384 |
| 87 | Pendular nystagmus (HP:0012043) | 1.79560473 |
| 88 | Abnormality of the hepatic vasculature (HP:0006707) | 1.78145036 |
| 89 | Spastic paraparesis (HP:0002313) | 1.77655826 |
| 90 | Intellectual disability, moderate (HP:0002342) | 1.77392441 |
| 91 | Abnormality of chloride homeostasis (HP:0011422) | 1.75745881 |
| 92 | Glycosuria (HP:0003076) | 1.75417269 |
| 93 | Abnormality of urine glucose concentration (HP:0011016) | 1.75417269 |
| 94 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.75272118 |
| 95 | Pancreatic cysts (HP:0001737) | 1.71649338 |
| 96 | Abnormality of the femoral head (HP:0003368) | 1.71494610 |
| 97 | Flat capital femoral epiphysis (HP:0003370) | 1.71294958 |
| 98 | Sclerocornea (HP:0000647) | 1.71221933 |
| 99 | Mixed hearing impairment (HP:0000410) | 1.70889476 |
| 100 | Short ribs (HP:0000773) | 1.70655073 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 7.96996399 |
| 2 | TESK1 | 5.67524494 |
| 3 | DDR2 | 4.94965901 |
| 4 | MAP4K2 | 3.39112877 |
| 5 | INSRR | 3.36417271 |
| 6 | PNCK | 3.34100433 |
| 7 | PLK2 | 2.97629789 |
| 8 | STK38 | 2.88232960 |
| 9 | MAPK15 | 2.79669767 |
| 10 | BRD4 | 2.49561944 |
| 11 | CAMK1G | 2.25854518 |
| 12 | STK38L | 2.24796234 |
| 13 | MAP3K9 | 1.94901461 |
| 14 | PRKD3 | 1.94307211 |
| 15 | WNK1 | 1.63719693 |
| 16 | MST1R | 1.42738069 |
| 17 | CDK7 | 1.35098273 |
| 18 | PDPK1 | 1.30414084 |
| 19 | DYRK1B | 1.29347944 |
| 20 | PDK1 | 1.21087218 |
| 21 | WNK4 | 1.14157136 |
| 22 | PIK3CG | 1.13871494 |
| 23 | CDK12 | 1.04111751 |
| 24 | UHMK1 | 1.00860604 |
| 25 | PTK2B | 0.95320936 |
| 26 | MARK1 | 0.94634097 |
| 27 | CAMK1D | 0.87800566 |
| 28 | NEK6 | 0.87004046 |
| 29 | TNIK | 0.86651926 |
| 30 | SIK2 | 0.84673417 |
| 31 | BMPR1B | 0.81278215 |
| 32 | TIE1 | 0.75924667 |
| 33 | PRKG1 | 0.75535198 |
| 34 | RPS6KA2 | 0.75532559 |
| 35 | LATS2 | 0.73711221 |
| 36 | KSR2 | 0.73017778 |
| 37 | BRAF | 0.73003956 |
| 38 | WNK3 | 0.68838923 |
| 39 | MAP3K4 | 0.67386286 |
| 40 | PRKAA2 | 0.66396221 |
| 41 | RPS6KA1 | 0.65725174 |
| 42 | AKT3 | 0.65246254 |
| 43 | PRKG2 | 0.64257783 |
| 44 | PRKCG | 0.62346478 |
| 45 | CAMK1 | 0.58851060 |
| 46 | SGK223 | 0.57633024 |
| 47 | SGK494 | 0.57633024 |
| 48 | ROCK1 | 0.56271430 |
| 49 | MAP2K2 | 0.56028222 |
| 50 | STK39 | 0.55834317 |
| 51 | CDK3 | 0.55766495 |
| 52 | TYRO3 | 0.55535898 |
| 53 | ADRBK2 | 0.52024553 |
| 54 | DYRK3 | 0.51883522 |
| 55 | GSK3B | 0.50040019 |
| 56 | DYRK2 | 0.49846726 |
| 57 | CDK1 | 0.48415596 |
| 58 | CDK2 | 0.48274288 |
| 59 | MAP3K11 | 0.46449412 |
| 60 | RPS6KA6 | 0.45721621 |
| 61 | LATS1 | 0.44937539 |
| 62 | PRKCZ | 0.43583620 |
| 63 | RPS6KC1 | 0.43006229 |
| 64 | RPS6KL1 | 0.43006229 |
| 65 | MAPK1 | 0.41904784 |
| 66 | FRK | 0.41101794 |
| 67 | MAP2K7 | 0.39011368 |
| 68 | BRSK2 | 0.38978636 |
| 69 | PINK1 | 0.38092809 |
| 70 | ARAF | 0.37137974 |
| 71 | CDK4 | 0.36263190 |
| 72 | CHEK1 | 0.36213921 |
| 73 | MAP3K8 | 0.36100233 |
| 74 | SGK1 | 0.35496397 |
| 75 | MUSK | 0.33461611 |
| 76 | MAPK8 | 0.31632229 |
| 77 | CAMK4 | 0.31467162 |
| 78 | OXSR1 | 0.30885511 |
| 79 | MKNK2 | 0.30365950 |
| 80 | ZAK | 0.30127146 |
| 81 | PRKCB | 0.29384590 |
| 82 | GRK1 | 0.29326408 |
| 83 | MAPK14 | 0.29285405 |
| 84 | PKN1 | 0.28967642 |
| 85 | PRKCE | 0.28334081 |
| 86 | SGK2 | 0.28023068 |
| 87 | BRSK1 | 0.27776986 |
| 88 | FER | 0.26483107 |
| 89 | NEK2 | 0.24892298 |
| 90 | NTRK3 | 0.24675944 |
| 91 | MAPK13 | 0.23847233 |
| 92 | VRK1 | 0.23803388 |
| 93 | NUAK1 | 0.22372193 |
| 94 | AKT1 | 0.19787686 |
| 95 | MINK1 | 0.19096947 |
| 96 | LMTK2 | 0.18783622 |
| 97 | MARK2 | 0.18675143 |
| 98 | MTOR | 0.18609705 |
| 99 | MAP3K2 | 0.18443834 |
| 100 | PRKACA | 0.18249389 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 8.01479091 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 5.27268819 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.74011288 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.95840417 |
| 5 | Taste transduction_Homo sapiens_hsa04742 | 2.01552432 |
| 6 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.91410570 |
| 7 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.60124115 |
| 8 | Phototransduction_Homo sapiens_hsa04744 | 1.58732602 |
| 9 | RNA transport_Homo sapiens_hsa03013 | 1.57972096 |
| 10 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.57143165 |
| 11 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.49822560 |
| 12 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.48073599 |
| 13 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.48026902 |
| 14 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.47695068 |
| 15 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.39657068 |
| 16 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.37685075 |
| 17 | Nicotine addiction_Homo sapiens_hsa05033 | 1.32717229 |
| 18 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.32087033 |
| 19 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.30229748 |
| 20 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.28837163 |
| 21 | Basal transcription factors_Homo sapiens_hsa03022 | 1.25192775 |
| 22 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.23499281 |
| 23 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.23223235 |
| 24 | Allograft rejection_Homo sapiens_hsa05330 | 1.19128495 |
| 25 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.17591353 |
| 26 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.16455324 |
| 27 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.16159593 |
| 28 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.14252399 |
| 29 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.13001818 |
| 30 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.11398851 |
| 31 | Morphine addiction_Homo sapiens_hsa05032 | 1.08583414 |
| 32 | Salivary secretion_Homo sapiens_hsa04970 | 1.08400968 |
| 33 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.07941072 |
| 34 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.05540897 |
| 35 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.03631036 |
| 36 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.98109568 |
| 37 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.97287580 |
| 38 | Circadian entrainment_Homo sapiens_hsa04713 | 0.97237030 |
| 39 | Huntingtons disease_Homo sapiens_hsa05016 | 0.95401454 |
| 40 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.93307306 |
| 41 | ABC transporters_Homo sapiens_hsa02010 | 0.92315099 |
| 42 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.92122517 |
| 43 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.89950570 |
| 44 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.88859960 |
| 45 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.87762271 |
| 46 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.87416477 |
| 47 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.84539986 |
| 48 | Purine metabolism_Homo sapiens_hsa00230 | 0.84286137 |
| 49 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.81000464 |
| 50 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.80157778 |
| 51 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.78985291 |
| 52 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.78645722 |
| 53 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.78035764 |
| 54 | Endocytosis_Homo sapiens_hsa04144 | 0.76308035 |
| 55 | Retinol metabolism_Homo sapiens_hsa00830 | 0.75555946 |
| 56 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.74378459 |
| 57 | Insulin secretion_Homo sapiens_hsa04911 | 0.73812657 |
| 58 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.72494166 |
| 59 | Viral myocarditis_Homo sapiens_hsa05416 | 0.71008210 |
| 60 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.68924199 |
| 61 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.68062552 |
| 62 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.67745702 |
| 63 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.64195957 |
| 64 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.60530843 |
| 65 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.58668914 |
| 66 | Tight junction_Homo sapiens_hsa04530 | 0.57758974 |
| 67 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.57418218 |
| 68 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.57188641 |
| 69 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.57010600 |
| 70 | Bile secretion_Homo sapiens_hsa04976 | 0.54642686 |
| 71 | GABAergic synapse_Homo sapiens_hsa04727 | 0.54078214 |
| 72 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.53396345 |
| 73 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.51808107 |
| 74 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.49554514 |
| 75 | Cocaine addiction_Homo sapiens_hsa05030 | 0.48777529 |
| 76 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.48279790 |
| 77 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.48172679 |
| 78 | Renin secretion_Homo sapiens_hsa04924 | 0.47838731 |
| 79 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.44312836 |
| 80 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.43490368 |
| 81 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.43232992 |
| 82 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.42920845 |
| 83 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.41985694 |
| 84 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.37469658 |
| 85 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.34909552 |
| 86 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.34645267 |
| 87 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.33808023 |
| 88 | Metabolic pathways_Homo sapiens_hsa01100 | 0.33719750 |
| 89 | Peroxisome_Homo sapiens_hsa04146 | 0.31297078 |
| 90 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.28067265 |
| 91 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.26204220 |
| 92 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.25685553 |
| 93 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.24832810 |
| 94 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.24574436 |
| 95 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.24495371 |
| 96 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.22725091 |
| 97 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.22560369 |
| 98 | Influenza A_Homo sapiens_hsa05164 | 0.20381125 |
| 99 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.19080489 |
| 100 | Circadian rhythm_Homo sapiens_hsa04710 | 0.18443611 |

