

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | establishment of protein localization to Golgi (GO:0072600) | 9.72242254 |
| 2 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 9.47482850 |
| 3 | chromosome condensation (GO:0030261) | 8.91231259 |
| 4 | microtubule depolymerization (GO:0007019) | 8.51129739 |
| 5 | DNA packaging (GO:0006323) | 8.48778751 |
| 6 | protein polyglutamylation (GO:0018095) | 8.31274658 |
| 7 | microtubule polymerization or depolymerization (GO:0031109) | 8.07662720 |
| 8 | plasma membrane fusion (GO:0045026) | 7.86239286 |
| 9 | rRNA methylation (GO:0031167) | 7.78578202 |
| 10 | centriole replication (GO:0007099) | 7.67175413 |
| 11 | sperm capacitation (GO:0048240) | 7.54043626 |
| 12 | protein localization to Golgi apparatus (GO:0034067) | 7.31980640 |
| 13 | seminiferous tubule development (GO:0072520) | 7.27443690 |
| 14 | spermatid development (GO:0007286) | 7.26527796 |
| 15 | regulation of centriole replication (GO:0046599) | 6.98225584 |
| 16 | spermatogenesis (GO:0007283) | 6.78166090 |
| 17 | sperm-egg recognition (GO:0035036) | 6.76158879 |
| 18 | male gamete generation (GO:0048232) | 6.76025971 |
| 19 | centriole assembly (GO:0098534) | 6.72965927 |
| 20 | single strand break repair (GO:0000012) | 6.72836584 |
| 21 | rRNA modification (GO:0000154) | 6.55812376 |
| 22 | glomerular visceral epithelial cell development (GO:0072015) | 6.55625031 |
| 23 | spermatid nucleus differentiation (GO:0007289) | 6.32365659 |
| 24 | multicellular organism reproduction (GO:0032504) | 6.25101343 |
| 25 | gamete generation (GO:0007276) | 6.24332458 |
| 26 | binding of sperm to zona pellucida (GO:0007339) | 6.13016911 |
| 27 | glomerular epithelial cell development (GO:0072310) | 6.02268843 |
| 28 | calcium ion-dependent exocytosis (GO:0017156) | 5.95273210 |
| 29 | axonemal dynein complex assembly (GO:0070286) | 5.92987049 |
| 30 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.80398043 |
| 31 | nuclear pore complex assembly (GO:0051292) | 5.76414971 |
| 32 | reproduction (GO:0000003) | 5.71834417 |
| 33 | cell-cell recognition (GO:0009988) | 5.52476669 |
| 34 | RNA destabilization (GO:0050779) | 5.47745624 |
| 35 | microtubule nucleation (GO:0007020) | 5.46627830 |
| 36 | microtubule severing (GO:0051013) | 5.41001607 |
| 37 | single fertilization (GO:0007338) | 5.37523707 |
| 38 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.36642641 |
| 39 | negative regulation of inclusion body assembly (GO:0090084) | 5.16127804 |
| 40 | response to pheromone (GO:0019236) | 5.15488006 |
| 41 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.15090316 |
| 42 | motile cilium assembly (GO:0044458) | 5.10472431 |
| 43 | sexual reproduction (GO:0019953) | 5.08042408 |
| 44 | fertilization (GO:0009566) | 4.98528791 |
| 45 | multicellular organismal reproductive process (GO:0048609) | 4.97301311 |
| 46 | regulation of cilium movement (GO:0003352) | 4.79234424 |
| 47 | epithelial cilium movement (GO:0003351) | 4.74601458 |
| 48 | multicellular organismal movement (GO:0050879) | 4.62946622 |
| 49 | musculoskeletal movement (GO:0050881) | 4.62946622 |
| 50 | nuclear pore organization (GO:0006999) | 4.42789323 |
| 51 | pore complex assembly (GO:0046931) | 4.40379587 |
| 52 | positive regulation of Rab GTPase activity (GO:0032851) | 4.37427006 |
| 53 | regulation of Rab GTPase activity (GO:0032313) | 4.37427006 |
| 54 | nucleus organization (GO:0006997) | 4.34940283 |
| 55 | germ cell development (GO:0007281) | 4.34118076 |
| 56 | cell wall macromolecule catabolic process (GO:0016998) | 4.29482909 |
| 57 | cilium movement (GO:0003341) | 4.14237672 |
| 58 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.10777802 |
| 59 | intra-Golgi vesicle-mediated transport (GO:0006891) | 4.05548691 |
| 60 | cell wall macromolecule metabolic process (GO:0044036) | 4.04161376 |
| 61 | glycerol ether metabolic process (GO:0006662) | 3.96594259 |
| 62 | ether metabolic process (GO:0018904) | 3.65523248 |
| 63 | regulation of inclusion body assembly (GO:0090083) | 3.56390076 |
| 64 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.54868143 |
| 65 | tRNA methylation (GO:0030488) | 3.51556712 |
| 66 | chromatin silencing (GO:0006342) | 3.44350154 |
| 67 | axoneme assembly (GO:0035082) | 3.40808101 |
| 68 | cellular ketone body metabolic process (GO:0046950) | 3.38993794 |
| 69 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.38679327 |
| 70 | ventricular system development (GO:0021591) | 3.36246475 |
| 71 | RNA localization (GO:0006403) | 3.32448271 |
| 72 | piRNA metabolic process (GO:0034587) | 3.31911140 |
| 73 | protein depolymerization (GO:0051261) | 3.26509308 |
| 74 | male meiosis I (GO:0007141) | 3.16090059 |
| 75 | regulation of centrosome duplication (GO:0010824) | 3.13175029 |
| 76 | RNA methylation (GO:0001510) | 3.13101399 |
| 77 | regulation of meiosis I (GO:0060631) | 3.04336091 |
| 78 | positive regulation of guanylate cyclase activity (GO:0031284) | 3.03662066 |
| 79 | receptor recycling (GO:0001881) | 3.00172615 |
| 80 | DNA methylation involved in gamete generation (GO:0043046) | 2.99813229 |
| 81 | Golgi to endosome transport (GO:0006895) | 2.98162915 |
| 82 | ketone body metabolic process (GO:1902224) | 2.97239844 |
| 83 | male meiosis (GO:0007140) | 2.94174074 |
| 84 | multicellular organismal development (GO:0007275) | 2.93651291 |
| 85 | histone H3-K9 demethylation (GO:0033169) | 2.93588334 |
| 86 | centrosome duplication (GO:0051298) | 2.93039256 |
| 87 | vesicle transport along microtubule (GO:0047496) | 2.91990709 |
| 88 | protein K48-linked deubiquitination (GO:0071108) | 2.85878606 |
| 89 | organic cation transport (GO:0015695) | 2.84689997 |
| 90 | DNA conformation change (GO:0071103) | 2.81109633 |
| 91 | regulation of microtubule-based movement (GO:0060632) | 2.80801540 |
| 92 | acrosome assembly (GO:0001675) | 2.78476211 |
| 93 | homeostasis of number of cells within a tissue (GO:0048873) | 2.78145291 |
| 94 | regulation of guanylate cyclase activity (GO:0031282) | 2.77251701 |
| 95 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 2.76725297 |
| 96 | mitotic G1 DNA damage checkpoint (GO:0031571) | 2.76109247 |
| 97 | sperm motility (GO:0030317) | 11.8481105 |
| 98 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.4014042 |
| 99 | acrosome reaction (GO:0007340) | 10.2144715 |
| 100 | protein targeting to Golgi (GO:0000042) | 10.1300506 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 6.62708072 |
| 2 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 3.81500719 |
| 3 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 3.43682694 |
| 4 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.24191880 |
| 5 | FUS_26573619_Chip-Seq_HEK293_Human | 2.64394302 |
| 6 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.62798547 |
| 7 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.62798547 |
| 8 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.42448995 |
| 9 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.42448995 |
| 10 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.32603767 |
| 11 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.17730502 |
| 12 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.15059287 |
| 13 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.01786772 |
| 14 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.84838811 |
| 15 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.81817967 |
| 16 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.78929910 |
| 17 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.76647974 |
| 18 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.75693437 |
| 19 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.69981805 |
| 20 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.67778761 |
| 21 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.66821986 |
| 22 | ERA_21632823_ChIP-Seq_H3396_Human | 1.63759342 |
| 23 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.62308348 |
| 24 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.62139625 |
| 25 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.60936375 |
| 26 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.60440970 |
| 27 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.58707556 |
| 28 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.58576642 |
| 29 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.58190917 |
| 30 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.56295946 |
| 31 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.53680482 |
| 32 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.51778962 |
| 33 | P300_19829295_ChIP-Seq_ESCs_Human | 1.51434865 |
| 34 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.50656701 |
| 35 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.49430360 |
| 36 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.47311787 |
| 37 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.46274416 |
| 38 | NFYB_21822215_ChIP-Seq_K562_Human | 1.46079710 |
| 39 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.43502688 |
| 40 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.42741502 |
| 41 | TBL1_22424771_ChIP-Seq_293T_Human | 1.42306899 |
| 42 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 1.41234408 |
| 43 | AR_25329375_ChIP-Seq_VCAP_Human | 1.40014553 |
| 44 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.39462440 |
| 45 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.36556527 |
| 46 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.36511400 |
| 47 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.36261481 |
| 48 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.33819387 |
| 49 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.33224702 |
| 50 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.32327245 |
| 51 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.30925349 |
| 52 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.30550035 |
| 53 | STAT3_23295773_ChIP-Seq_U87_Human | 1.30221880 |
| 54 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.30098876 |
| 55 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.29767394 |
| 56 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.28154897 |
| 57 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.27866590 |
| 58 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.26703891 |
| 59 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.26082363 |
| 60 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.25780160 |
| 61 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.25257428 |
| 62 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.24451162 |
| 63 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.24333406 |
| 64 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.22229651 |
| 65 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.21548748 |
| 66 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.21251265 |
| 67 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.18738554 |
| 68 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.18168518 |
| 69 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.18128360 |
| 70 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.16979811 |
| 71 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.16637688 |
| 72 | NFYA_21822215_ChIP-Seq_K562_Human | 1.15666629 |
| 73 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.15449594 |
| 74 | * ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.14073402 |
| 75 | VDR_22108803_ChIP-Seq_LS180_Human | 1.13703411 |
| 76 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.12134462 |
| 77 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.11746810 |
| 78 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.11599899 |
| 79 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.11591021 |
| 80 | KDM2B_26808549_Chip-Seq_REH_Human | 1.08935115 |
| 81 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.07525041 |
| 82 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.07350647 |
| 83 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.07126072 |
| 84 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.06884836 |
| 85 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.06761467 |
| 86 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.03913258 |
| 87 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.02471995 |
| 88 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.02399720 |
| 89 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.02399720 |
| 90 | SALL4_22934838_ChIP-ChIP_CD34+_Human | 1.01901403 |
| 91 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.01804956 |
| 92 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.01096699 |
| 93 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.00765717 |
| 94 | KLF5_25053715_ChIP-Seq_YYC3_Human | 1.00275182 |
| 95 | P68_20966046_ChIP-Seq_HELA_Human | 1.00021181 |
| 96 | CJUN_26792858_Chip-Seq_BT549_Human | 0.98512248 |
| 97 | * YY1_22570637_ChIP-Seq_MALME-3M_Human | 0.98235236 |
| 98 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 0.98012444 |
| 99 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 0.97798696 |
| 100 | E2F1_20622854_ChIP-Seq_HELA_Human | 0.97111541 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003878_abnormal_ear_physiology | 6.51273684 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 6.51273684 |
| 3 | MP0005670_abnormal_white_adipose | 4.45799462 |
| 4 | MP0003698_abnormal_male_reproductive | 4.18276828 |
| 5 | MP0001929_abnormal_gametogenesis | 3.77953366 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.53046731 |
| 7 | MP0005451_abnormal_body_composition | 2.78369113 |
| 8 | MP0003646_muscle_fatigue | 2.51855500 |
| 9 | MP0001485_abnormal_pinna_reflex | 2.35189571 |
| 10 | MP0002161_abnormal_fertility/fecundity | 2.28313075 |
| 11 | MP0003718_maternal_effect | 2.22763691 |
| 12 | MP0003879_abnormal_hair_cell | 2.14281854 |
| 13 | MP0005310_abnormal_salivary_gland | 2.10041026 |
| 14 | MP0005379_endocrine/exocrine_gland_phen | 2.00924773 |
| 15 | MP0005410_abnormal_fertilization | 10.9282057 |
| 16 | MP0001486_abnormal_startle_reflex | 1.95500300 |
| 17 | MP0002210_abnormal_sex_determination | 1.87544591 |
| 18 | MP0004742_abnormal_vestibular_system | 1.78207160 |
| 19 | MP0003011_delayed_dark_adaptation | 1.70259663 |
| 20 | MP0001145_abnormal_male_reproductive | 1.49958295 |
| 21 | MP0000678_abnormal_parathyroid_gland | 1.49759232 |
| 22 | MP0005423_abnormal_somatic_nervous | 1.46844581 |
| 23 | MP0000653_abnormal_sex_gland | 1.38493857 |
| 24 | MP0008877_abnormal_DNA_methylation | 1.33713882 |
| 25 | MP0001963_abnormal_hearing_physiology | 1.31305079 |
| 26 | MP0001984_abnormal_olfaction | 1.30621307 |
| 27 | MP0002282_abnormal_trachea_morphology | 1.26226642 |
| 28 | MP0002132_abnormal_respiratory_system | 1.24023156 |
| 29 | MP0009115_abnormal_fat_cell | 1.21419865 |
| 30 | MP0004859_abnormal_synaptic_plasticity | 1.17733761 |
| 31 | MP0005551_abnormal_eye_electrophysiolog | 1.16314158 |
| 32 | MP0009697_abnormal_copulation | 1.13132354 |
| 33 | MP0002138_abnormal_hepatobiliary_system | 1.12114859 |
| 34 | MP0001765_abnormal_ion_homeostasis | 1.09513194 |
| 35 | MP0005253_abnormal_eye_physiology | 1.05199624 |
| 36 | MP0004510_myositis | 1.02283557 |
| 37 | MP0005666_abnormal_adipose_tissue | 0.99216828 |
| 38 | MP0000026_abnormal_inner_ear | 0.99050410 |
| 39 | MP0009053_abnormal_anal_canal | 0.94533294 |
| 40 | MP0005395_other_phenotype | 0.92922593 |
| 41 | MP0008995_early_reproductive_senescence | 0.92031710 |
| 42 | MP0004233_abnormal_muscle_weight | 0.91029124 |
| 43 | MP0005167_abnormal_blood-brain_barrier | 0.89162041 |
| 44 | MP0002229_neurodegeneration | 0.85150717 |
| 45 | MP0005083_abnormal_biliary_tract | 0.83132629 |
| 46 | MP0002067_abnormal_sensory_capabilities | 0.80822731 |
| 47 | MP0001968_abnormal_touch/_nociception | 0.80017240 |
| 48 | MP0002249_abnormal_larynx_morphology | 0.79011068 |
| 49 | MP0005645_abnormal_hypothalamus_physiol | 0.75238414 |
| 50 | MP0000955_abnormal_spinal_cord | 0.74699021 |
| 51 | MP0002735_abnormal_chemical_nociception | 0.74509372 |
| 52 | MP0005248_abnormal_Harderian_gland | 0.73467317 |
| 53 | MP0002234_abnormal_pharynx_morphology | 0.71166081 |
| 54 | MP0000534_abnormal_ureter_morphology | 0.70327336 |
| 55 | MP0000230_abnormal_systemic_arterial | 0.70290070 |
| 56 | MP0005375_adipose_tissue_phenotype | 0.67864441 |
| 57 | MP0002127_abnormal_cardiovascular_syste | 0.67644610 |
| 58 | MP0003077_abnormal_cell_cycle | 0.65840492 |
| 59 | MP0001545_abnormal_hematopoietic_system | 0.64189348 |
| 60 | MP0005397_hematopoietic_system_phenotyp | 0.64189348 |
| 61 | MP0004084_abnormal_cardiac_muscle | 0.64152124 |
| 62 | MP0002557_abnormal_social/conspecific_i | 0.62862118 |
| 63 | MP0005332_abnormal_amino_acid | 0.62630372 |
| 64 | MP0002572_abnormal_emotion/affect_behav | 0.62206004 |
| 65 | MP0004085_abnormal_heartbeat | 0.61595793 |
| 66 | MP0010329_abnormal_lipoprotein_level | 0.60095356 |
| 67 | MP0004036_abnormal_muscle_relaxation | 0.59963265 |
| 68 | MP0010307_abnormal_tumor_latency | 0.58226436 |
| 69 | MP0002928_abnormal_bile_duct | 0.58197884 |
| 70 | MP0005408_hypopigmentation | 0.57155311 |
| 71 | MP0005636_abnormal_mineral_homeostasis | 0.55935217 |
| 72 | MP0008569_lethality_at_weaning | 0.54787963 |
| 73 | MP0002733_abnormal_thermal_nociception | 0.54222179 |
| 74 | MP0005084_abnormal_gallbladder_morpholo | 0.53470084 |
| 75 | MP0003137_abnormal_impulse_conducting | 0.52412668 |
| 76 | MP0001501_abnormal_sleep_pattern | 0.52383503 |
| 77 | MP0004782_abnormal_surfactant_physiolog | 0.49818631 |
| 78 | MP0001440_abnormal_grooming_behavior | 0.47882207 |
| 79 | MP0005391_vision/eye_phenotype | 0.45750216 |
| 80 | MP0000003_abnormal_adipose_tissue | 0.45205745 |
| 81 | MP0001666_abnormal_nutrient_absorption | 0.43866865 |
| 82 | MP0005535_abnormal_body_temperature | 0.43840706 |
| 83 | MP0008961_abnormal_basal_metabolism | 0.43824531 |
| 84 | MP0004957_abnormal_blastocyst_morpholog | 0.42874690 |
| 85 | MP0002272_abnormal_nervous_system | 0.42061745 |
| 86 | MP0005595_abnormal_vascular_smooth | 0.41783593 |
| 87 | MP0002136_abnormal_kidney_physiology | 0.39870043 |
| 88 | MP0003631_nervous_system_phenotype | 0.38511371 |
| 89 | MP0003329_amyloid_beta_deposits | 0.38165422 |
| 90 | MP0009745_abnormal_behavioral_response | 0.37000217 |
| 91 | MP0003633_abnormal_nervous_system | 0.35440789 |
| 92 | MP0001905_abnormal_dopamine_level | 0.35431735 |
| 93 | MP0002254_reproductive_system_inflammat | 0.35107133 |
| 94 | MP0002269_muscular_atrophy | 0.34508809 |
| 95 | MP0009643_abnormal_urine_homeostasis | 0.33287039 |
| 96 | MP0002184_abnormal_innervation | 0.33113385 |
| 97 | MP0001970_abnormal_pain_threshold | 0.33110584 |
| 98 | MP0009278_abnormal_bone_marrow | 0.32083589 |
| 99 | MP0002734_abnormal_mechanical_nocicepti | 0.31427343 |
| 100 | MP0000049_abnormal_middle_ear | 0.30382997 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Tubulointerstitial nephritis (HP:0001970) | 7.88931520 |
| 2 | Chronic hepatic failure (HP:0100626) | 7.47072483 |
| 3 | Severe visual impairment (HP:0001141) | 6.37450779 |
| 4 | Asymmetric septal hypertrophy (HP:0001670) | 6.31806426 |
| 5 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.28568063 |
| 6 | Absent/shortened dynein arms (HP:0200106) | 6.28568063 |
| 7 | Cone-rod dystrophy (HP:0000548) | 5.43553555 |
| 8 | Menstrual irregularities (HP:0000858) | 4.76645546 |
| 9 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.70266901 |
| 10 | Male infertility (HP:0003251) | 4.67255090 |
| 11 | Hypoalphalipoproteinemia (HP:0003233) | 4.63691997 |
| 12 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.49952457 |
| 13 | Nasal polyposis (HP:0100582) | 4.46257884 |
| 14 | Abnormal ciliary motility (HP:0012262) | 4.44372766 |
| 15 | Progressive sensorineural hearing impairment (HP:0000408) | 4.37568058 |
| 16 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.37050962 |
| 17 | Resting tremor (HP:0002322) | 4.31117569 |
| 18 | Hyperkalemia (HP:0002153) | 4.30797826 |
| 19 | Abnormality of macular pigmentation (HP:0008002) | 4.28269615 |
| 20 | Amelogenesis imperfecta (HP:0000705) | 4.20903000 |
| 21 | Abnormality of dental color (HP:0011073) | 3.97712092 |
| 22 | Attenuation of retinal blood vessels (HP:0007843) | 3.96941456 |
| 23 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.96107601 |
| 24 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.95426733 |
| 25 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.95426733 |
| 26 | Renovascular hypertension (HP:0100817) | 3.94395716 |
| 27 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.88614685 |
| 28 | Hypoplasia of the thymus (HP:0000778) | 3.76796032 |
| 29 | Infertility (HP:0000789) | 3.69550937 |
| 30 | Abnormality of the nasal mucosa (HP:0000433) | 3.63544220 |
| 31 | Tubulointerstitial abnormality (HP:0001969) | 3.56676653 |
| 32 | Truncal obesity (HP:0001956) | 3.56106869 |
| 33 | Insulin-resistant diabetes mellitus (HP:0000831) | 3.56077364 |
| 34 | Stage 5 chronic kidney disease (HP:0003774) | 3.55243541 |
| 35 | Progressive cerebellar ataxia (HP:0002073) | 3.45958626 |
| 36 | Portal hypertension (HP:0001409) | 3.42952122 |
| 37 | Impulsivity (HP:0100710) | 3.27784198 |
| 38 | Subcapsular cataract (HP:0000523) | 3.17382466 |
| 39 | Abnormality of the hepatic vasculature (HP:0006707) | 3.16935214 |
| 40 | Focal segmental glomerulosclerosis (HP:0000097) | 3.10261474 |
| 41 | Postural instability (HP:0002172) | 3.07632366 |
| 42 | Hyperuricemia (HP:0002149) | 2.97221173 |
| 43 | Increased purine levels (HP:0004368) | 2.97221173 |
| 44 | Intellectual disability, moderate (HP:0002342) | 2.92264609 |
| 45 | Nephronophthisis (HP:0000090) | 2.91394417 |
| 46 | Progressive hearing impairment (HP:0001730) | 2.87356302 |
| 47 | Potter facies (HP:0002009) | 2.72570613 |
| 48 | Facial shape deformation (HP:0011334) | 2.72570613 |
| 49 | Enlarged epiphyses (HP:0010580) | 2.63321396 |
| 50 | Chronic bronchitis (HP:0004469) | 2.62130200 |
| 51 | Rhinitis (HP:0012384) | 2.61139744 |
| 52 | Abnormal spermatogenesis (HP:0008669) | 2.55863392 |
| 53 | Abnormality of the renal medulla (HP:0100957) | 2.55484289 |
| 54 | Glomerulosclerosis (HP:0000096) | 2.52136407 |
| 55 | Abnormal albumin level (HP:0012116) | 2.51640759 |
| 56 | Hypoalbuminemia (HP:0003073) | 2.51640759 |
| 57 | Bell-shaped thorax (HP:0001591) | 2.47928552 |
| 58 | Hypolipoproteinemia (HP:0010981) | 2.46215714 |
| 59 | Abnormality of the costochondral junction (HP:0000919) | 2.39538978 |
| 60 | Abnormal drinking behavior (HP:0030082) | 2.31601973 |
| 61 | Polydipsia (HP:0001959) | 2.31601973 |
| 62 | Osteomalacia (HP:0002749) | 2.29115194 |
| 63 | Abnormal urine output (HP:0012590) | 2.25168627 |
| 64 | Abnormality of potassium homeostasis (HP:0011042) | 2.24117825 |
| 65 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.23962103 |
| 66 | Ventricular tachycardia (HP:0004756) | 2.23268221 |
| 67 | Myokymia (HP:0002411) | 2.18019550 |
| 68 | Generalized aminoaciduria (HP:0002909) | 2.17668137 |
| 69 | Sandal gap (HP:0001852) | 2.17140713 |
| 70 | Hypoplastic ischia (HP:0003175) | 2.11573966 |
| 71 | Abnormality of purine metabolism (HP:0004352) | 2.08961136 |
| 72 | Recurrent pneumonia (HP:0006532) | 2.03702474 |
| 73 | Insulin resistance (HP:0000855) | 2.02224308 |
| 74 | Bilateral sensorineural hearing impairment (HP:0008619) | 2.00620667 |
| 75 | Tubular atrophy (HP:0000092) | 1.98218128 |
| 76 | Abnormality of renal excretion (HP:0011036) | 1.96994459 |
| 77 | Abnormality of the ischium (HP:0003174) | 1.93474272 |
| 78 | Bronchiectasis (HP:0002110) | 1.89942580 |
| 79 | Hypophosphatemic rickets (HP:0004912) | 1.89826065 |
| 80 | Polyuria (HP:0000103) | 1.87713964 |
| 81 | Gingivitis (HP:0000230) | 1.86728183 |
| 82 | Upper limb muscle weakness (HP:0003484) | 1.86012895 |
| 83 | Optic nerve hypoplasia (HP:0000609) | 1.84316358 |
| 84 | Bradycardia (HP:0001662) | 1.83286089 |
| 85 | Convex nasal ridge (HP:0000444) | 1.83192500 |
| 86 | Flattened epiphyses (HP:0003071) | 1.82420663 |
| 87 | Obsessive-compulsive behavior (HP:0000722) | 1.82312837 |
| 88 | Azoospermia (HP:0000027) | 1.81059079 |
| 89 | Congenital sensorineural hearing impairment (HP:0008527) | 1.80623286 |
| 90 | Hypergonadotropic hypogonadism (HP:0000815) | 1.78337681 |
| 91 | Polar cataract (HP:0010696) | 1.75981355 |
| 92 | Acanthosis nigricans (HP:0000956) | 1.75666540 |
| 93 | Growth hormone deficiency (HP:0000824) | 1.74586726 |
| 94 | Renal Fanconi syndrome (HP:0001994) | 1.74559574 |
| 95 | Abnormality of the level of lipoprotein cholesterol (HP:0010979) | 1.73729803 |
| 96 | Photophobia (HP:0000613) | 1.72922116 |
| 97 | Horizontal nystagmus (HP:0000666) | 1.72450590 |
| 98 | Decreased central vision (HP:0007663) | 1.69337398 |
| 99 | Hyponatremia (HP:0002902) | 1.67903255 |
| 100 | Pendular nystagmus (HP:0012043) | 1.67797649 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | INSRR | 5.47654090 |
| 2 | BRD4 | 5.21883102 |
| 3 | PLK2 | 3.99810245 |
| 4 | PNCK | 3.52954277 |
| 5 | TESK1 | 3.12339441 |
| 6 | PIK3CG | 3.04046073 |
| 7 | CAMK1G | 2.63830493 |
| 8 | TYRO3 | 2.39658681 |
| 9 | MAP4K2 | 2.32733879 |
| 10 | DDR2 | 2.29439826 |
| 11 | PLK4 | 10.4195711 |
| 12 | STK38L | 1.89382306 |
| 13 | STK38 | 1.87799973 |
| 14 | PRKD3 | 1.77328155 |
| 15 | CDK12 | 1.61564099 |
| 16 | NEK6 | 1.57916587 |
| 17 | PDK1 | 1.48648870 |
| 18 | PDPK1 | 1.34584198 |
| 19 | WNK1 | 1.27897651 |
| 20 | PTK2B | 1.23857355 |
| 21 | MST1R | 1.19088904 |
| 22 | MAPK15 | 1.18581382 |
| 23 | TIE1 | 1.11023080 |
| 24 | DYRK1B | 0.99031932 |
| 25 | CAMK1D | 0.98480776 |
| 26 | AKT3 | 0.90690924 |
| 27 | CDK7 | 0.77966709 |
| 28 | SIK2 | 0.76902213 |
| 29 | MAP3K11 | 0.71829516 |
| 30 | PRKG2 | 0.70083423 |
| 31 | KSR2 | 0.65736700 |
| 32 | BRAF | 0.63832965 |
| 33 | MAP3K9 | 0.63489677 |
| 34 | CAMK1 | 0.56652832 |
| 35 | BRSK1 | 0.53473498 |
| 36 | MARK1 | 0.52601678 |
| 37 | LATS2 | 0.50405210 |
| 38 | CDK3 | 0.49807965 |
| 39 | LATS1 | 0.49579301 |
| 40 | NTRK3 | 0.48145681 |
| 41 | PRKG1 | 0.47782657 |
| 42 | MAP2K2 | 0.44581913 |
| 43 | PRKAA2 | 0.44357691 |
| 44 | BMPR1B | 0.39985125 |
| 45 | BRSK2 | 0.38511504 |
| 46 | CDK1 | 0.36634110 |
| 47 | SGK223 | 0.36069798 |
| 48 | SGK494 | 0.36069798 |
| 49 | MAPK1 | 0.35114844 |
| 50 | CDK2 | 0.34916558 |
| 51 | RPS6KA2 | 0.34024615 |
| 52 | GSK3B | 0.31636435 |
| 53 | MAP3K2 | 0.30555389 |
| 54 | MAP3K4 | 0.30493035 |
| 55 | RPS6KA1 | 0.30227272 |
| 56 | PRKCG | 0.29416547 |
| 57 | CAMK4 | 0.28657578 |
| 58 | BLK | 0.27354425 |
| 59 | MAP3K1 | 0.24766190 |
| 60 | SGK1 | 0.23622587 |
| 61 | JAK3 | 0.23279912 |
| 62 | PRKCZ | 0.22792477 |
| 63 | ROCK1 | 0.21987898 |
| 64 | CHEK1 | 0.21898254 |
| 65 | STK39 | 0.21535538 |
| 66 | SGK2 | 0.21277163 |
| 67 | NME1 | 0.20699300 |
| 68 | TNIK | 0.20476736 |
| 69 | MAPK8 | 0.20380418 |
| 70 | MTOR | 0.20138907 |
| 71 | MARK2 | 0.19034818 |
| 72 | WNK4 | 0.17656930 |
| 73 | MUSK | 0.17519042 |
| 74 | MAP3K8 | 0.17123289 |
| 75 | MAP3K10 | 0.16941950 |
| 76 | PRKCB | 0.16530093 |
| 77 | MAPK14 | 0.16370313 |
| 78 | NEK2 | 0.15747554 |
| 79 | MAPK10 | 0.14324538 |
| 80 | MET | 0.13889392 |
| 81 | MAP3K7 | 0.13779985 |
| 82 | UHMK1 | 0.13731225 |
| 83 | PRKACB | 0.11228850 |
| 84 | AKT1 | 0.11093813 |
| 85 | RPS6KL1 | 0.10004130 |
| 86 | RPS6KC1 | 0.10004130 |
| 87 | RPS6KA6 | 0.09554774 |
| 88 | PKN1 | 0.09052525 |
| 89 | OXSR1 | 0.08998814 |
| 90 | PLK1 | 0.07408746 |
| 91 | ICK | 0.06679860 |
| 92 | CSNK1A1 | 0.06529656 |
| 93 | MAP2K1 | 0.06074320 |
| 94 | PRKACA | 0.05769560 |
| 95 | MAPK11 | 0.05707711 |
| 96 | SGK3 | 0.05099120 |
| 97 | MAP2K7 | 0.05083581 |
| 98 | ARAF | 0.04865118 |
| 99 | TAF1 | 0.04317304 |
| 100 | FRK | 0.04003672 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 7.43507657 |
| 2 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 5.14041584 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 4.34012060 |
| 4 | RNA transport_Homo sapiens_hsa03013 | 2.74498474 |
| 5 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 2.69928320 |
| 6 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.03781772 |
| 7 | Taste transduction_Homo sapiens_hsa04742 | 1.92006173 |
| 8 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.89787443 |
| 9 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.81989791 |
| 10 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.78640826 |
| 11 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.77605252 |
| 12 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.76177992 |
| 13 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.62317931 |
| 14 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.62123154 |
| 15 | Phototransduction_Homo sapiens_hsa04744 | 1.39431050 |
| 16 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.37199185 |
| 17 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.30744119 |
| 18 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.23841199 |
| 19 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.19967986 |
| 20 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.16804713 |
| 21 | Nicotine addiction_Homo sapiens_hsa05033 | 1.16290756 |
| 22 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.14575179 |
| 23 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.13830304 |
| 24 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.10513317 |
| 25 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.09387152 |
| 26 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.07390458 |
| 27 | ABC transporters_Homo sapiens_hsa02010 | 1.05365786 |
| 28 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.03661204 |
| 29 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.01943907 |
| 30 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.00994324 |
| 31 | Salivary secretion_Homo sapiens_hsa04970 | 0.98796564 |
| 32 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.98651222 |
| 33 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.98612801 |
| 34 | Influenza A_Homo sapiens_hsa05164 | 0.98008111 |
| 35 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.96982232 |
| 36 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.96029458 |
| 37 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.95708400 |
| 38 | Morphine addiction_Homo sapiens_hsa05032 | 0.93393551 |
| 39 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.93150886 |
| 40 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.91742061 |
| 41 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.89858458 |
| 42 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.88169385 |
| 43 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.87406027 |
| 44 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.85037989 |
| 45 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.82603281 |
| 46 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.82328639 |
| 47 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.81077257 |
| 48 | Allograft rejection_Homo sapiens_hsa05330 | 0.80919766 |
| 49 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.79896164 |
| 50 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.76659688 |
| 51 | Long-term potentiation_Homo sapiens_hsa04720 | 0.76533216 |
| 52 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.75090921 |
| 53 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.73732456 |
| 54 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.73444807 |
| 55 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.72799988 |
| 56 | Endocytosis_Homo sapiens_hsa04144 | 0.72553388 |
| 57 | Sulfur relay system_Homo sapiens_hsa04122 | 0.71333755 |
| 58 | Viral myocarditis_Homo sapiens_hsa05416 | 0.70451516 |
| 59 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.68623848 |
| 60 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.66568629 |
| 61 | Renin secretion_Homo sapiens_hsa04924 | 0.66404194 |
| 62 | Circadian entrainment_Homo sapiens_hsa04713 | 0.64819226 |
| 63 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.63265211 |
| 64 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.60447383 |
| 65 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.60365008 |
| 66 | Retinol metabolism_Homo sapiens_hsa00830 | 0.59757564 |
| 67 | Bile secretion_Homo sapiens_hsa04976 | 0.55137603 |
| 68 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.54937905 |
| 69 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.54048182 |
| 70 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.54017565 |
| 71 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.52644551 |
| 72 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.52455361 |
| 73 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.50806548 |
| 74 | Insulin secretion_Homo sapiens_hsa04911 | 0.49812148 |
| 75 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.47660644 |
| 76 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.46443271 |
| 77 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.45172277 |
| 78 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.45062592 |
| 79 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.43890835 |
| 80 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.41290162 |
| 81 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.40735232 |
| 82 | GABAergic synapse_Homo sapiens_hsa04727 | 0.40410567 |
| 83 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.40165276 |
| 84 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.37235648 |
| 85 | Huntingtons disease_Homo sapiens_hsa05016 | 0.32507023 |
| 86 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.32506335 |
| 87 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.32401351 |
| 88 | Purine metabolism_Homo sapiens_hsa00230 | 0.30633418 |
| 89 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.27567498 |
| 90 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.24601380 |
| 91 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.23502604 |
| 92 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.22233426 |
| 93 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.21626057 |
| 94 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.20786710 |
| 95 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.20100110 |
| 96 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.18646071 |
| 97 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.18464911 |
| 98 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.17202097 |
| 99 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.17019521 |
| 100 | Tight junction_Homo sapiens_hsa04530 | 0.16887533 |

