

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | acrosome reaction (GO:0007340) | 9.96604902 |
| 2 | protein targeting to Golgi (GO:0000042) | 9.08106343 |
| 3 | establishment of protein localization to Golgi (GO:0072600) | 8.75379367 |
| 4 | chromosome condensation (GO:0030261) | 8.59537234 |
| 5 | DNA packaging (GO:0006323) | 8.55253310 |
| 6 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 8.46875621 |
| 7 | microtubule depolymerization (GO:0007019) | 8.14677522 |
| 8 | plasma membrane fusion (GO:0045026) | 7.79562137 |
| 9 | microtubule polymerization or depolymerization (GO:0031109) | 7.58580351 |
| 10 | centriole replication (GO:0007099) | 7.53001361 |
| 11 | spermatid development (GO:0007286) | 7.47701020 |
| 12 | sperm capacitation (GO:0048240) | 7.42423667 |
| 13 | rRNA methylation (GO:0031167) | 7.11401965 |
| 14 | protein polyglutamylation (GO:0018095) | 7.03039023 |
| 15 | sperm-egg recognition (GO:0035036) | 6.94640320 |
| 16 | regulation of centriole replication (GO:0046599) | 6.82955557 |
| 17 | single strand break repair (GO:0000012) | 6.71873501 |
| 18 | protein localization to Golgi apparatus (GO:0034067) | 6.64573630 |
| 19 | centriole assembly (GO:0098534) | 6.52488936 |
| 20 | * spermatogenesis (GO:0007283) | 6.43681974 |
| 21 | * male gamete generation (GO:0048232) | 6.42114109 |
| 22 | binding of sperm to zona pellucida (GO:0007339) | 6.40660773 |
| 23 | spermatid nucleus differentiation (GO:0007289) | 6.35189471 |
| 24 | multicellular organism reproduction (GO:0032504) | 6.33739563 |
| 25 | * gamete generation (GO:0007276) | 5.96498977 |
| 26 | rRNA modification (GO:0000154) | 5.90737811 |
| 27 | reproduction (GO:0000003) | 5.73217262 |
| 28 | calcium ion-dependent exocytosis (GO:0017156) | 5.71995319 |
| 29 | cell-cell recognition (GO:0009988) | 5.62672398 |
| 30 | male meiosis I (GO:0007141) | 5.61131772 |
| 31 | nuclear pore complex assembly (GO:0051292) | 5.58193953 |
| 32 | response to pheromone (GO:0019236) | 5.56056176 |
| 33 | synapsis (GO:0007129) | 5.50264327 |
| 34 | piRNA metabolic process (GO:0034587) | 5.42754181 |
| 35 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.42453857 |
| 36 | axonemal dynein complex assembly (GO:0070286) | 5.41181924 |
| 37 | glomerular visceral epithelial cell development (GO:0072015) | 5.32203725 |
| 38 | microtubule severing (GO:0051013) | 5.22558263 |
| 39 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.08698913 |
| 40 | single fertilization (GO:0007338) | 5.05559479 |
| 41 | microtubule nucleation (GO:0007020) | 5.01871963 |
| 42 | chromosome organization involved in meiosis (GO:0070192) | 4.97490417 |
| 43 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.95436246 |
| 44 | sexual reproduction (GO:0019953) | 4.93018179 |
| 45 | glomerular epithelial cell development (GO:0072310) | 4.85462278 |
| 46 | negative regulation of inclusion body assembly (GO:0090084) | 4.79623061 |
| 47 | male meiosis (GO:0007140) | 4.75018936 |
| 48 | * multicellular organismal reproductive process (GO:0048609) | 4.74527294 |
| 49 | DNA methylation involved in gamete generation (GO:0043046) | 4.72049223 |
| 50 | synaptonemal complex assembly (GO:0007130) | 4.70687269 |
| 51 | regulation of Rab GTPase activity (GO:0032313) | 4.65138460 |
| 52 | positive regulation of Rab GTPase activity (GO:0032851) | 4.65138460 |
| 53 | regulation of cilium movement (GO:0003352) | 4.62400611 |
| 54 | germ cell development (GO:0007281) | 4.60795674 |
| 55 | RNA destabilization (GO:0050779) | 4.58225550 |
| 56 | * fertilization (GO:0009566) | 4.53698109 |
| 57 | motile cilium assembly (GO:0044458) | 4.53354249 |
| 58 | epithelial cilium movement (GO:0003351) | 4.44657833 |
| 59 | meiosis I (GO:0007127) | 4.38350344 |
| 60 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.38317684 |
| 61 | regulation of meiosis I (GO:0060631) | 4.36403964 |
| 62 | nucleus organization (GO:0006997) | 4.28348083 |
| 63 | nuclear pore organization (GO:0006999) | 4.24548778 |
| 64 | pore complex assembly (GO:0046931) | 4.24212530 |
| 65 | synaptonemal complex organization (GO:0070193) | 4.16940615 |
| 66 | cell wall macromolecule catabolic process (GO:0016998) | 4.16438838 |
| 67 | multicellular organismal movement (GO:0050879) | 4.08844209 |
| 68 | musculoskeletal movement (GO:0050881) | 4.08844209 |
| 69 | cell wall macromolecule metabolic process (GO:0044036) | 4.08336070 |
| 70 | meiotic nuclear division (GO:0007126) | 4.02151214 |
| 71 | intra-Golgi vesicle-mediated transport (GO:0006891) | 3.83225801 |
| 72 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.77516047 |
| 73 | cilium movement (GO:0003341) | 3.72205160 |
| 74 | Golgi to endosome transport (GO:0006895) | 3.67824747 |
| 75 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.59255859 |
| 76 | glycerol ether metabolic process (GO:0006662) | 3.50612951 |
| 77 | chromatin silencing (GO:0006342) | 3.48600334 |
| 78 | DNA synthesis involved in DNA repair (GO:0000731) | 3.43770332 |
| 79 | histone H3-K9 demethylation (GO:0033169) | 3.42688927 |
| 80 | regulation of inclusion body assembly (GO:0090083) | 3.28231717 |
| 81 | * meiotic cell cycle process (GO:1903046) | 3.26330889 |
| 82 | cellular ketone body metabolic process (GO:0046950) | 3.24518036 |
| 83 | protein depolymerization (GO:0051261) | 3.24419190 |
| 84 | regulation of centrosome duplication (GO:0010824) | 3.21674915 |
| 85 | resolution of meiotic recombination intermediates (GO:0000712) | 3.21354540 |
| 86 | ether metabolic process (GO:0018904) | 3.20712661 |
| 87 | organic cation transport (GO:0015695) | 3.20501943 |
| 88 | acrosome assembly (GO:0001675) | 3.15925828 |
| 89 | DNA conformation change (GO:0071103) | 3.14212840 |
| 90 | homeostasis of number of cells within a tissue (GO:0048873) | 3.13298625 |
| 91 | ventricular system development (GO:0021591) | 3.11653398 |
| 92 | centrosome duplication (GO:0051298) | 3.08644977 |
| 93 | tRNA methylation (GO:0030488) | 3.01263978 |
| 94 | histone exchange (GO:0043486) | 3.00947070 |
| 95 | RNA localization (GO:0006403) | 2.97563582 |
| 96 | regulation of microtubule-based movement (GO:0060632) | 2.97303652 |
| 97 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.96067964 |
| 98 | multicellular organismal development (GO:0007275) | 2.92365047 |
| 99 | sperm motility (GO:0030317) | 11.1919712 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.3327668 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 5.05419073 |
| 2 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.91607347 |
| 3 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 3.09222964 |
| 4 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.95056434 |
| 5 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.62198756 |
| 6 | FUS_26573619_Chip-Seq_HEK293_Human | 2.52361979 |
| 7 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.40951975 |
| 8 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.40951975 |
| 9 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.32441756 |
| 10 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.32211783 |
| 11 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.32211783 |
| 12 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.24412372 |
| 13 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.22750986 |
| 14 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 2.13421272 |
| 15 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.94854517 |
| 16 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.86500612 |
| 17 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.83806176 |
| 18 | * RAC3_21632823_ChIP-Seq_H3396_Human | 1.77161638 |
| 19 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.76369407 |
| 20 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.75098377 |
| 21 | ERA_21632823_ChIP-Seq_H3396_Human | 1.74981790 |
| 22 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.74325961 |
| 23 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.73920612 |
| 24 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.72062342 |
| 25 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.69779879 |
| 26 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.68379669 |
| 27 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.67002269 |
| 28 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.63817741 |
| 29 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.61751005 |
| 30 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.59781784 |
| 31 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.58740251 |
| 32 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.57253860 |
| 33 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.55354841 |
| 34 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.53945820 |
| 35 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.53891026 |
| 36 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.53763634 |
| 37 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.52892003 |
| 38 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.51773315 |
| 39 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.51378668 |
| 40 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.51203888 |
| 41 | VDR_22108803_ChIP-Seq_LS180_Human | 1.49374805 |
| 42 | NFYB_21822215_ChIP-Seq_K562_Human | 1.49026165 |
| 43 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.45939282 |
| 44 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.45351159 |
| 45 | TBL1_22424771_ChIP-Seq_293T_Human | 1.44531104 |
| 46 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.43769256 |
| 47 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.40655962 |
| 48 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.40336527 |
| 49 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 1.39564248 |
| 50 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.39176442 |
| 51 | P300_19829295_ChIP-Seq_ESCs_Human | 1.38568373 |
| 52 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.38132828 |
| 53 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.37994874 |
| 54 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.37345420 |
| 55 | AR_25329375_ChIP-Seq_VCAP_Human | 1.36843135 |
| 56 | STAT3_23295773_ChIP-Seq_U87_Human | 1.36556630 |
| 57 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.36129368 |
| 58 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.34914915 |
| 59 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.33713882 |
| 60 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.30177567 |
| 61 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.30090295 |
| 62 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.28690060 |
| 63 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.28041963 |
| 64 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.26807451 |
| 65 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.26736515 |
| 66 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.25997862 |
| 67 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.25682727 |
| 68 | P68_20966046_ChIP-Seq_HELA_Human | 1.25596988 |
| 69 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.24055204 |
| 70 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.22411343 |
| 71 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.22283914 |
| 72 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.22122280 |
| 73 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.22066460 |
| 74 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.21277840 |
| 75 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.20869816 |
| 76 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.20752652 |
| 77 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.19061215 |
| 78 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.18874639 |
| 79 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.17464648 |
| 80 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.16797492 |
| 81 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.16749149 |
| 82 | NFYA_21822215_ChIP-Seq_K562_Human | 1.15780794 |
| 83 | KLF5_25053715_ChIP-Seq_YYC3_Human | 1.15377346 |
| 84 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.15314718 |
| 85 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.14851249 |
| 86 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.14203271 |
| 87 | JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.13013267 |
| 88 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.12953395 |
| 89 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.10310967 |
| 90 | CJUN_26792858_Chip-Seq_BT549_Human | 1.10168577 |
| 91 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.09067330 |
| 92 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.08791386 |
| 93 | * SMAD4_21799915_ChIP-Seq_A2780_Human | 1.08599483 |
| 94 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.07816231 |
| 95 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.07485757 |
| 96 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.07485757 |
| 97 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.07368144 |
| 98 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.04781002 |
| 99 | SALL4_22934838_ChIP-ChIP_CD34+_Human | 1.04603957 |
| 100 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.04473834 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003878_abnormal_ear_physiology | 5.57931716 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 5.57931716 |
| 3 | MP0003698_abnormal_male_reproductive | 4.59662688 |
| 4 | MP0001929_abnormal_gametogenesis | 4.41867054 |
| 5 | MP0005670_abnormal_white_adipose | 4.15752362 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.59505427 |
| 7 | MP0008877_abnormal_DNA_methylation | 3.28040214 |
| 8 | MP0002210_abnormal_sex_determination | 2.83485976 |
| 9 | MP0002161_abnormal_fertility/fecundity | 2.60554283 |
| 10 | MP0003718_maternal_effect | 2.44581270 |
| 11 | MP0005451_abnormal_body_composition | 2.23861080 |
| 12 | MP0001145_abnormal_male_reproductive | 2.15235608 |
| 13 | MP0003646_muscle_fatigue | 2.03837396 |
| 14 | MP0000678_abnormal_parathyroid_gland | 2.03388926 |
| 15 | MP0000653_abnormal_sex_gland | 2.01583719 |
| 16 | MP0005410_abnormal_fertilization | 10.8866754 |
| 17 | MP0005379_endocrine/exocrine_gland_phen | 1.99525104 |
| 18 | MP0001485_abnormal_pinna_reflex | 1.88665135 |
| 19 | MP0005310_abnormal_salivary_gland | 1.82014222 |
| 20 | MP0003879_abnormal_hair_cell | 1.70388333 |
| 21 | MP0001486_abnormal_startle_reflex | 1.48405572 |
| 22 | MP0005423_abnormal_somatic_nervous | 1.38546418 |
| 23 | MP0004233_abnormal_muscle_weight | 1.36123755 |
| 24 | MP0002282_abnormal_trachea_morphology | 1.29590632 |
| 25 | MP0009053_abnormal_anal_canal | 1.25053516 |
| 26 | MP0004742_abnormal_vestibular_system | 1.19074031 |
| 27 | MP0004957_abnormal_blastocyst_morpholog | 1.18202171 |
| 28 | MP0003077_abnormal_cell_cycle | 1.14683301 |
| 29 | MP0005395_other_phenotype | 1.14542705 |
| 30 | MP0002132_abnormal_respiratory_system | 1.09995720 |
| 31 | MP0009697_abnormal_copulation | 1.09009343 |
| 32 | MP0004510_myositis | 1.07742238 |
| 33 | MP0008058_abnormal_DNA_repair | 1.07370743 |
| 34 | MP0002234_abnormal_pharynx_morphology | 1.06534168 |
| 35 | MP0001765_abnormal_ion_homeostasis | 1.06315288 |
| 36 | MP0001963_abnormal_hearing_physiology | 1.06024564 |
| 37 | MP0000534_abnormal_ureter_morphology | 1.05255838 |
| 38 | MP0005083_abnormal_biliary_tract | 0.94935365 |
| 39 | MP0004859_abnormal_synaptic_plasticity | 0.90168523 |
| 40 | MP0004036_abnormal_muscle_relaxation | 0.85702387 |
| 41 | MP0005551_abnormal_eye_electrophysiolog | 0.85199295 |
| 42 | MP0005666_abnormal_adipose_tissue | 0.82973056 |
| 43 | MP0002735_abnormal_chemical_nociception | 0.82062014 |
| 44 | MP0009115_abnormal_fat_cell | 0.81193881 |
| 45 | MP0004084_abnormal_cardiac_muscle | 0.78427664 |
| 46 | MP0002249_abnormal_larynx_morphology | 0.76591402 |
| 47 | MP0000026_abnormal_inner_ear | 0.76579393 |
| 48 | MP0002127_abnormal_cardiovascular_syste | 0.74917314 |
| 49 | MP0004085_abnormal_heartbeat | 0.74524907 |
| 50 | MP0001968_abnormal_touch/_nociception | 0.74227694 |
| 51 | MP0010307_abnormal_tumor_latency | 0.71460140 |
| 52 | MP0000003_abnormal_adipose_tissue | 0.71259635 |
| 53 | MP0003950_abnormal_plasma_membrane | 0.71082882 |
| 54 | MP0005167_abnormal_blood-brain_barrier | 0.70823488 |
| 55 | MP0005253_abnormal_eye_physiology | 0.70438876 |
| 56 | MP0003699_abnormal_female_reproductive | 0.68259605 |
| 57 | MP0008995_early_reproductive_senescence | 0.67492161 |
| 58 | MP0002229_neurodegeneration | 0.65389802 |
| 59 | MP0005375_adipose_tissue_phenotype | 0.65053580 |
| 60 | MP0000955_abnormal_spinal_cord | 0.64916498 |
| 61 | MP0005623_abnormal_meninges_morphology | 0.64085040 |
| 62 | MP0005408_hypopigmentation | 0.62815630 |
| 63 | MP0003011_delayed_dark_adaptation | 0.60371463 |
| 64 | MP0000230_abnormal_systemic_arterial | 0.60371389 |
| 65 | MP0001879_abnormal_lymphatic_vessel | 0.59970867 |
| 66 | MP0002067_abnormal_sensory_capabilities | 0.59533148 |
| 67 | MP0004782_abnormal_surfactant_physiolog | 0.59522858 |
| 68 | MP0008007_abnormal_cellular_replicative | 0.58306010 |
| 69 | MP0001119_abnormal_female_reproductive | 0.57426175 |
| 70 | MP0009780_abnormal_chondrocyte_physiolo | 0.51735563 |
| 71 | MP0002138_abnormal_hepatobiliary_system | 0.51342360 |
| 72 | MP0001299_abnormal_eye_distance/ | 0.50468480 |
| 73 | MP0001984_abnormal_olfaction | 0.49022546 |
| 74 | MP0001905_abnormal_dopamine_level | 0.48757382 |
| 75 | MP0002733_abnormal_thermal_nociception | 0.47973529 |
| 76 | MP0002160_abnormal_reproductive_system | 0.47793249 |
| 77 | MP0005636_abnormal_mineral_homeostasis | 0.47636441 |
| 78 | MP0003936_abnormal_reproductive_system | 0.43752068 |
| 79 | MP0002557_abnormal_social/conspecific_i | 0.43125449 |
| 80 | MP0003385_abnormal_body_wall | 0.43067818 |
| 81 | MP0002269_muscular_atrophy | 0.43033058 |
| 82 | MP0010368_abnormal_lymphatic_system | 0.42206302 |
| 83 | MP0002085_abnormal_embryonic_tissue | 0.42149171 |
| 84 | MP0005248_abnormal_Harderian_gland | 0.41201926 |
| 85 | MP0006276_abnormal_autonomic_nervous | 0.40455509 |
| 86 | MP0008775_abnormal_heart_ventricle | 0.40069349 |
| 87 | MP0005397_hematopoietic_system_phenotyp | 0.39888833 |
| 88 | MP0001545_abnormal_hematopoietic_system | 0.39888833 |
| 89 | MP0000013_abnormal_adipose_tissue | 0.38879311 |
| 90 | MP0000681_abnormal_thyroid_gland | 0.38676108 |
| 91 | MP0005332_abnormal_amino_acid | 0.37263294 |
| 92 | MP0003693_abnormal_embryo_hatching | 0.36289331 |
| 93 | MP0005084_abnormal_gallbladder_morpholo | 0.36199391 |
| 94 | MP0005535_abnormal_body_temperature | 0.34886702 |
| 95 | MP0002572_abnormal_emotion/affect_behav | 0.33516274 |
| 96 | MP0008770_decreased_survivor_rate | 0.33211760 |
| 97 | MP0003935_abnormal_craniofacial_develop | 0.33028243 |
| 98 | MP0002168_other_aberrant_phenotype | 0.32304577 |
| 99 | MP0008932_abnormal_embryonic_tissue | 0.32185848 |
| 100 | MP0008569_lethality_at_weaning | 0.31830391 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Tubulointerstitial nephritis (HP:0001970) | 7.57880610 |
| 2 | Severe visual impairment (HP:0001141) | 6.36258276 |
| 3 | Chronic hepatic failure (HP:0100626) | 6.21999482 |
| 4 | Asymmetric septal hypertrophy (HP:0001670) | 6.09864501 |
| 5 | Absent/shortened dynein arms (HP:0200106) | 5.58564512 |
| 6 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.58564512 |
| 7 | Cone-rod dystrophy (HP:0000548) | 5.07093806 |
| 8 | Male infertility (HP:0003251) | 4.76119057 |
| 9 | Menstrual irregularities (HP:0000858) | 4.40014401 |
| 10 | Resting tremor (HP:0002322) | 4.39251911 |
| 11 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 4.33430908 |
| 12 | Hyperkalemia (HP:0002153) | 4.22557444 |
| 13 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.20294471 |
| 14 | Infertility (HP:0000789) | 4.15353797 |
| 15 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.07746576 |
| 16 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.04110961 |
| 17 | Abnormal ciliary motility (HP:0012262) | 3.97742415 |
| 18 | Hypoalphalipoproteinemia (HP:0003233) | 3.94567776 |
| 19 | Abnormality of dental color (HP:0011073) | 3.93775261 |
| 20 | Abnormality of macular pigmentation (HP:0008002) | 3.85318070 |
| 21 | Attenuation of retinal blood vessels (HP:0007843) | 3.85010018 |
| 22 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.84820390 |
| 23 | Bell-shaped thorax (HP:0001591) | 3.78365008 |
| 24 | Progressive sensorineural hearing impairment (HP:0000408) | 3.72138055 |
| 25 | Nasal polyposis (HP:0100582) | 3.67550501 |
| 26 | Renovascular hypertension (HP:0100817) | 3.65127869 |
| 27 | Amelogenesis imperfecta (HP:0000705) | 3.57799398 |
| 28 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.51045069 |
| 29 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.51045069 |
| 30 | Truncal obesity (HP:0001956) | 3.45480788 |
| 31 | Abnormal spermatogenesis (HP:0008669) | 3.40004458 |
| 32 | Tubulointerstitial abnormality (HP:0001969) | 3.39966289 |
| 33 | Stage 5 chronic kidney disease (HP:0003774) | 3.33107991 |
| 34 | Enlarged epiphyses (HP:0010580) | 3.22001506 |
| 35 | Insulin-resistant diabetes mellitus (HP:0000831) | 3.17470177 |
| 36 | Subcapsular cataract (HP:0000523) | 3.12352519 |
| 37 | Hypoplasia of the thymus (HP:0000778) | 3.09727115 |
| 38 | Impulsivity (HP:0100710) | 3.05652283 |
| 39 | Nephronophthisis (HP:0000090) | 3.05604296 |
| 40 | Progressive cerebellar ataxia (HP:0002073) | 3.02933884 |
| 41 | Abnormality of the nasal mucosa (HP:0000433) | 2.99541291 |
| 42 | Azoospermia (HP:0000027) | 2.96087583 |
| 43 | Portal hypertension (HP:0001409) | 2.93453332 |
| 44 | Hypoplastic ischia (HP:0003175) | 2.79696632 |
| 45 | Potter facies (HP:0002009) | 2.76687897 |
| 46 | Facial shape deformation (HP:0011334) | 2.76687897 |
| 47 | Abnormality of the costochondral junction (HP:0000919) | 2.73908643 |
| 48 | Abnormality of the hepatic vasculature (HP:0006707) | 2.72686196 |
| 49 | Postural instability (HP:0002172) | 2.71816321 |
| 50 | Intellectual disability, moderate (HP:0002342) | 2.70881574 |
| 51 | Increased purine levels (HP:0004368) | 2.70463297 |
| 52 | Hyperuricemia (HP:0002149) | 2.70463297 |
| 53 | Spontaneous abortion (HP:0005268) | 2.67771552 |
| 54 | Abnormality of the renal medulla (HP:0100957) | 2.65723072 |
| 55 | Focal segmental glomerulosclerosis (HP:0000097) | 2.62286135 |
| 56 | Progressive hearing impairment (HP:0001730) | 2.56715121 |
| 57 | Abnormality of the ischium (HP:0003174) | 2.52219595 |
| 58 | Upper limb muscle weakness (HP:0003484) | 2.47839144 |
| 59 | Flattened epiphyses (HP:0003071) | 2.45478331 |
| 60 | Sandal gap (HP:0001852) | 2.40271601 |
| 61 | Tubular atrophy (HP:0000092) | 2.34345724 |
| 62 | Rhinitis (HP:0012384) | 2.34011391 |
| 63 | Osteomalacia (HP:0002749) | 2.32201074 |
| 64 | Hypophosphatemic rickets (HP:0004912) | 2.30028812 |
| 65 | Convex nasal ridge (HP:0000444) | 2.17488081 |
| 66 | Glomerulosclerosis (HP:0000096) | 2.16313449 |
| 67 | Horizontal nystagmus (HP:0000666) | 2.16020410 |
| 68 | Hypolipoproteinemia (HP:0010981) | 2.09385005 |
| 69 | Ventricular tachycardia (HP:0004756) | 2.07399119 |
| 70 | Chronic bronchitis (HP:0004469) | 2.05463041 |
| 71 | Abnormality of potassium homeostasis (HP:0011042) | 2.05319538 |
| 72 | Abnormal urine output (HP:0012590) | 2.04147595 |
| 73 | Polydipsia (HP:0001959) | 1.98263272 |
| 74 | Abnormal drinking behavior (HP:0030082) | 1.98263272 |
| 75 | Abnormal rod and cone electroretinograms (HP:0008323) | 1.97311280 |
| 76 | Hypoalbuminemia (HP:0003073) | 1.92896502 |
| 77 | Abnormal albumin level (HP:0012116) | 1.92896502 |
| 78 | Hand muscle atrophy (HP:0009130) | 1.87916036 |
| 79 | Insulin resistance (HP:0000855) | 1.86977287 |
| 80 | Unilateral renal agenesis (HP:0000122) | 1.86547264 |
| 81 | Bradycardia (HP:0001662) | 1.85993263 |
| 82 | Hypergonadotropic hypogonadism (HP:0000815) | 1.84741205 |
| 83 | Flat capital femoral epiphysis (HP:0003370) | 1.80917484 |
| 84 | Abnormality of renal excretion (HP:0011036) | 1.80538521 |
| 85 | Obsessive-compulsive behavior (HP:0000722) | 1.80509399 |
| 86 | Abnormality of purine metabolism (HP:0004352) | 1.79862583 |
| 87 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.78724336 |
| 88 | Polar cataract (HP:0010696) | 1.78690747 |
| 89 | Acanthosis nigricans (HP:0000956) | 1.78076011 |
| 90 | Scotoma (HP:0000575) | 1.76565309 |
| 91 | Widely patent fontanelles and sutures (HP:0004492) | 1.75424474 |
| 92 | Generalized aminoaciduria (HP:0002909) | 1.73091885 |
| 93 | Congenital sensorineural hearing impairment (HP:0008527) | 1.71397639 |
| 94 | Underdeveloped nasal alae (HP:0000430) | 1.71009887 |
| 95 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 1.69743463 |
| 96 | Polyuria (HP:0000103) | 1.66908788 |
| 97 | Abnormality of femoral epiphyses (HP:0006499) | 1.66652484 |
| 98 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 1.66652484 |
| 99 | Duodenal stenosis (HP:0100867) | 1.66023645 |
| 100 | Small intestinal stenosis (HP:0012848) | 1.66023645 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | INSRR | 4.48835726 |
| 2 | BRD4 | 4.36806111 |
| 3 | PLK2 | 4.12517915 |
| 4 | TESK1 | 3.94300480 |
| 5 | PNCK | 3.53624078 |
| 6 | DDR2 | 3.08106280 |
| 7 | PIK3CG | 3.00218547 |
| 8 | STK38L | 2.68087020 |
| 9 | CAMK1G | 2.42754263 |
| 10 | STK38 | 2.40834816 |
| 11 | MAP4K2 | 2.10976746 |
| 12 | PLK4 | 10.2040282 |
| 13 | PRKD3 | 1.84882419 |
| 14 | TYRO3 | 1.81187675 |
| 15 | MST1R | 1.77683674 |
| 16 | NEK6 | 1.69911173 |
| 17 | PTK2B | 1.54375210 |
| 18 | CDK12 | 1.47614208 |
| 19 | PDK1 | 1.38473746 |
| 20 | PDPK1 | 1.36440109 |
| 21 | MAPK15 | 1.19607112 |
| 22 | AKT3 | 1.05009198 |
| 23 | CDK7 | 1.00959312 |
| 24 | WNK1 | 0.95106922 |
| 25 | TIE1 | 0.82787089 |
| 26 | CDK19 | 0.81222952 |
| 27 | BRSK1 | 0.80362712 |
| 28 | BRAF | 0.77865778 |
| 29 | KSR2 | 0.77830382 |
| 30 | PRKG2 | 0.76358523 |
| 31 | PDK2 | 0.75135584 |
| 32 | MET | 0.73773641 |
| 33 | CAMK1D | 0.70991280 |
| 34 | NTRK3 | 0.69996817 |
| 35 | DYRK1B | 0.66777738 |
| 36 | MAP3K9 | 0.65041013 |
| 37 | BRSK2 | 0.61923060 |
| 38 | LATS2 | 0.54047633 |
| 39 | MAP3K2 | 0.50676752 |
| 40 | PRKG1 | 0.49693908 |
| 41 | MAP3K11 | 0.48807775 |
| 42 | CHEK1 | 0.47334343 |
| 43 | SIK2 | 0.45907847 |
| 44 | CDK2 | 0.45607592 |
| 45 | CDK1 | 0.44885370 |
| 46 | RPS6KA2 | 0.43440589 |
| 47 | MAPK1 | 0.38871500 |
| 48 | MAP3K8 | 0.38870742 |
| 49 | MTOR | 0.38577950 |
| 50 | CAMK1 | 0.38501502 |
| 51 | MAP2K2 | 0.36913432 |
| 52 | PLK1 | 0.36569842 |
| 53 | PRKAA2 | 0.36051997 |
| 54 | TESK2 | 0.35350993 |
| 55 | LATS1 | 0.35059103 |
| 56 | ROCK1 | 0.35040189 |
| 57 | GSK3B | 0.34830186 |
| 58 | CDK3 | 0.34462769 |
| 59 | RPS6KA1 | 0.30146418 |
| 60 | NEK2 | 0.29189593 |
| 61 | PRKCG | 0.22905874 |
| 62 | BMPR1B | 0.22233021 |
| 63 | ARAF | 0.22070529 |
| 64 | MAPK14 | 0.19839713 |
| 65 | CDK8 | 0.19688256 |
| 66 | STK3 | 0.18801120 |
| 67 | STK39 | 0.18670132 |
| 68 | SGK1 | 0.18617796 |
| 69 | EPHA2 | 0.18461607 |
| 70 | PRKCB | 0.18443229 |
| 71 | MAP3K1 | 0.18388488 |
| 72 | MAPK8 | 0.18220039 |
| 73 | WNK4 | 0.18116103 |
| 74 | OXSR1 | 0.17906708 |
| 75 | TRPM7 | 0.17752990 |
| 76 | EEF2K | 0.15549281 |
| 77 | MAPK10 | 0.15215649 |
| 78 | FRK | 0.14771904 |
| 79 | AKT1 | 0.14482108 |
| 80 | FER | 0.14271193 |
| 81 | MAPK11 | 0.13885830 |
| 82 | PRKCZ | 0.13298826 |
| 83 | DYRK3 | 0.13294234 |
| 84 | MAP3K4 | 0.12683948 |
| 85 | FGFR1 | 0.12452920 |
| 86 | TTK | 0.12060092 |
| 87 | AURKA | 0.11845305 |
| 88 | BLK | 0.11443760 |
| 89 | PAK2 | 0.10996104 |
| 90 | PRKACB | 0.10752643 |
| 91 | MAPKAPK5 | 0.10151278 |
| 92 | PAK1 | 0.10111647 |
| 93 | JAK3 | 0.08965193 |
| 94 | ACVR1B | 0.08915435 |
| 95 | CAMK4 | 0.07311428 |
| 96 | MAP2K1 | 0.07171794 |
| 97 | RET | 0.06870695 |
| 98 | MUSK | 0.05484282 |
| 99 | ATM | 0.05374910 |
| 100 | CHEK2 | 0.05288521 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 6.51787356 |
| 2 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 4.85899212 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 4.39912303 |
| 4 | RNA transport_Homo sapiens_hsa03013 | 3.10880134 |
| 5 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 2.67660828 |
| 6 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 2.58428333 |
| 7 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.95623604 |
| 8 | Taste transduction_Homo sapiens_hsa04742 | 1.89959120 |
| 9 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.87736663 |
| 10 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.83076801 |
| 11 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.76589584 |
| 12 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.63925331 |
| 13 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.54221512 |
| 14 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.52069889 |
| 15 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.50088582 |
| 16 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.47025589 |
| 17 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.43542168 |
| 18 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.40473104 |
| 19 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.36048052 |
| 20 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.34643709 |
| 21 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.33630666 |
| 22 | Basal transcription factors_Homo sapiens_hsa03022 | 1.32512073 |
| 23 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.29748614 |
| 24 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.29335529 |
| 25 | ECM-receptor interaction_Homo sapiens_hsa04512 | 1.21082180 |
| 26 | Homologous recombination_Homo sapiens_hsa03440 | 1.20027714 |
| 27 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.12439366 |
| 28 | Phototransduction_Homo sapiens_hsa04744 | 1.07232161 |
| 29 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.05142126 |
| 30 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.04800640 |
| 31 | ABC transporters_Homo sapiens_hsa02010 | 1.04065005 |
| 32 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.03956112 |
| 33 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.02635561 |
| 34 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.99799315 |
| 35 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.98077801 |
| 36 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.95356805 |
| 37 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.95330180 |
| 38 | Endocytosis_Homo sapiens_hsa04144 | 0.94706975 |
| 39 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.92736570 |
| 40 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.90770147 |
| 41 | Cell cycle_Homo sapiens_hsa04110 | 0.90331093 |
| 42 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.89558082 |
| 43 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.87823765 |
| 44 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.82883645 |
| 45 | Purine metabolism_Homo sapiens_hsa00230 | 0.81918828 |
| 46 | Base excision repair_Homo sapiens_hsa03410 | 0.81356644 |
| 47 | Salivary secretion_Homo sapiens_hsa04970 | 0.77543130 |
| 48 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.76621712 |
| 49 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.75026463 |
| 50 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.74660838 |
| 51 | Sulfur relay system_Homo sapiens_hsa04122 | 0.73679815 |
| 52 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.71593030 |
| 53 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.69953812 |
| 54 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.63313571 |
| 55 | Circadian entrainment_Homo sapiens_hsa04713 | 0.62854827 |
| 56 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.60255463 |
| 57 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.60125706 |
| 58 | Morphine addiction_Homo sapiens_hsa05032 | 0.58900547 |
| 59 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.56832567 |
| 60 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.54583413 |
| 61 | Influenza A_Homo sapiens_hsa05164 | 0.53834606 |
| 62 | Adherens junction_Homo sapiens_hsa04520 | 0.49905636 |
| 63 | Nicotine addiction_Homo sapiens_hsa05033 | 0.49665862 |
| 64 | Focal adhesion_Homo sapiens_hsa04510 | 0.49387719 |
| 65 | Tight junction_Homo sapiens_hsa04530 | 0.46941222 |
| 66 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.46161766 |
| 67 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.46152385 |
| 68 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.45780103 |
| 69 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.45221869 |
| 70 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.44594780 |
| 71 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.42973433 |
| 72 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.42458996 |
| 73 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.41480131 |
| 74 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.40271303 |
| 75 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.40203610 |
| 76 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.39242694 |
| 77 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.39030132 |
| 78 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.38871932 |
| 79 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.38324992 |
| 80 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.37020868 |
| 81 | Long-term potentiation_Homo sapiens_hsa04720 | 0.36614209 |
| 82 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.34966053 |
| 83 | Mismatch repair_Homo sapiens_hsa03430 | 0.34178607 |
| 84 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.33772314 |
| 85 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.32903830 |
| 86 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.32293614 |
| 87 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.32014249 |
| 88 | Bile secretion_Homo sapiens_hsa04976 | 0.31163802 |
| 89 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.30865857 |
| 90 | Prostate cancer_Homo sapiens_hsa05215 | 0.30193605 |
| 91 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.28256354 |
| 92 | DNA replication_Homo sapiens_hsa03030 | 0.28181587 |
| 93 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.28065224 |
| 94 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.28006359 |
| 95 | Retinol metabolism_Homo sapiens_hsa00830 | 0.27119229 |
| 96 | Lysine degradation_Homo sapiens_hsa00310 | 0.26870729 |
| 97 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.26672994 |
| 98 | Huntingtons disease_Homo sapiens_hsa05016 | 0.26667188 |
| 99 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.26202569 |
| 100 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.25639712 |

