

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | response to pheromone (GO:0019236) | 9.39296317 |
| 2 | fusion of sperm to egg plasma membrane (GO:0007342) | 9.37019103 |
| 3 | sperm motility (GO:0030317) | 9.16747091 |
| 4 | chromosome condensation (GO:0030261) | 8.56668805 |
| 5 | microtubule depolymerization (GO:0007019) | 8.03755316 |
| 6 | DNA packaging (GO:0006323) | 7.93080815 |
| 7 | single strand break repair (GO:0000012) | 7.34354248 |
| 8 | plasma membrane fusion (GO:0045026) | 7.04633521 |
| 9 | sperm capacitation (GO:0048240) | 6.80654747 |
| 10 | microtubule polymerization or depolymerization (GO:0031109) | 6.56321131 |
| 11 | sexual reproduction (GO:0019953) | 6.43469977 |
| 12 | cellular ketone body metabolic process (GO:0046950) | 6.39745333 |
| 13 | negative regulation of inclusion body assembly (GO:0090084) | 6.10250784 |
| 14 | sperm-egg recognition (GO:0035036) | 6.05612295 |
| 15 | spermatid development (GO:0007286) | 6.04669390 |
| 16 | binding of sperm to zona pellucida (GO:0007339) | 5.96975667 |
| 17 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 5.90149233 |
| 18 | ketone body metabolic process (GO:1902224) | 5.65272000 |
| 19 | calcium ion-dependent exocytosis (GO:0017156) | 5.61953225 |
| 20 | protein polyglutamylation (GO:0018095) | 5.54789581 |
| 21 | reproduction (GO:0000003) | 5.48802854 |
| 22 | multicellular organism reproduction (GO:0032504) | 5.40947292 |
| 23 | axonemal dynein complex assembly (GO:0070286) | 5.35265377 |
| 24 | centriole replication (GO:0007099) | 5.10696171 |
| 25 | rRNA methylation (GO:0031167) | 4.89831852 |
| 26 | cell-cell recognition (GO:0009988) | 4.86297848 |
| 27 | spermatogenesis (GO:0007283) | 4.78231780 |
| 28 | male gamete generation (GO:0048232) | 4.76397286 |
| 29 | chromatin silencing (GO:0006342) | 4.72088883 |
| 30 | negative regulation of mesenchymal cell apoptotic process (GO:2001054) | 4.56039738 |
| 31 | gamete generation (GO:0007276) | 4.33036635 |
| 32 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 4.27649241 |
| 33 | protein targeting to Golgi (GO:0000042) | 4.21854815 |
| 34 | rRNA modification (GO:0000154) | 4.19734052 |
| 35 | positive regulation of Rab GTPase activity (GO:0032851) | 4.04009351 |
| 36 | regulation of Rab GTPase activity (GO:0032313) | 4.04009351 |
| 37 | phosphatidylethanolamine metabolic process (GO:0046337) | 4.01786681 |
| 38 | regulation of inclusion body assembly (GO:0090083) | 4.01746983 |
| 39 | centriole assembly (GO:0098534) | 4.00455826 |
| 40 | establishment of protein localization to Golgi (GO:0072600) | 3.92277356 |
| 41 | microtubule severing (GO:0051013) | 3.91014261 |
| 42 | cranial nerve morphogenesis (GO:0021602) | 3.78850869 |
| 43 | cell proliferation involved in metanephros development (GO:0072203) | 3.77520946 |
| 44 | protein-DNA complex disassembly (GO:0032986) | 3.76135566 |
| 45 | nucleosome disassembly (GO:0006337) | 3.76135566 |
| 46 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 3.74165984 |
| 47 | potassium ion export (GO:0071435) | 3.72026340 |
| 48 | nucleus organization (GO:0006997) | 3.68997875 |
| 49 | cilium or flagellum-dependent cell motility (GO:0001539) | 3.68877282 |
| 50 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.68541198 |
| 51 | single fertilization (GO:0007338) | 3.63639119 |
| 52 | urogenital system development (GO:0001655) | 3.62375655 |
| 53 | protein localization to Golgi apparatus (GO:0034067) | 3.59334855 |
| 54 | polyamine biosynthetic process (GO:0006596) | 3.50975882 |
| 55 | motile cilium assembly (GO:0044458) | 3.48444455 |
| 56 | glycerol ether metabolic process (GO:0006662) | 3.44750928 |
| 57 | regulation of mesenchymal cell apoptotic process (GO:2001053) | 3.42838964 |
| 58 | positive regulation of skeletal muscle tissue development (GO:0048643) | 3.42605372 |
| 59 | multicellular organismal reproductive process (GO:0048609) | 3.37940577 |
| 60 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.37922839 |
| 61 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 3.37585023 |
| 62 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 3.37585023 |
| 63 | positive regulation of gastrulation (GO:2000543) | 3.37239232 |
| 64 | regulation of centriole replication (GO:0046599) | 3.35036029 |
| 65 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.31959671 |
| 66 | cell differentiation involved in metanephros development (GO:0072202) | 3.30485848 |
| 67 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.30168517 |
| 68 | cell wall macromolecule catabolic process (GO:0016998) | 3.25326830 |
| 69 | germ cell development (GO:0007281) | 3.23073372 |
| 70 | pattern specification involved in kidney development (GO:0061004) | 3.15812702 |
| 71 | ether metabolic process (GO:0018904) | 3.14643954 |
| 72 | epithelial cilium movement (GO:0003351) | 3.14195680 |
| 73 | protein depolymerization (GO:0051261) | 3.06389245 |
| 74 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.04963619 |
| 75 | NAD biosynthetic process (GO:0009435) | 3.02850833 |
| 76 | cell wall macromolecule metabolic process (GO:0044036) | 3.00985058 |
| 77 | coenzyme catabolic process (GO:0009109) | 3.00656048 |
| 78 | 4-hydroxyproline metabolic process (GO:0019471) | 2.99374235 |
| 79 | RNA destabilization (GO:0050779) | 2.98270390 |
| 80 | fertilization (GO:0009566) | 2.95825697 |
| 81 | urinary tract smooth muscle contraction (GO:0014848) | 2.86933228 |
| 82 | positive regulation of T cell mediated cytotoxicity (GO:0001916) | 2.82838302 |
| 83 | musculoskeletal movement (GO:0050881) | 2.81766024 |
| 84 | multicellular organismal movement (GO:0050879) | 2.81766024 |
| 85 | peristalsis (GO:0030432) | 2.78318120 |
| 86 | establishment of tissue polarity (GO:0007164) | 2.76280625 |
| 87 | establishment of planar polarity (GO:0001736) | 2.76280625 |
| 88 | spinal cord motor neuron differentiation (GO:0021522) | 2.76006513 |
| 89 | regulation of cilium movement (GO:0003352) | 2.75892009 |
| 90 | cilium movement (GO:0003341) | 2.75505415 |
| 91 | membrane repolarization during cardiac muscle cell action potential (GO:0086013) | 2.73470193 |
| 92 | retinoic acid receptor signaling pathway (GO:0048384) | 2.70416226 |
| 93 | sequestering of actin monomers (GO:0042989) | 2.70341625 |
| 94 | nucleosome organization (GO:0034728) | 2.70275922 |
| 95 | negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244) | 2.67854201 |
| 96 | alanine transport (GO:0032328) | 2.66322073 |
| 97 | histone exchange (GO:0043486) | 2.65044735 |
| 98 | acrosome assembly (GO:0001675) | 2.64824983 |
| 99 | spermatid nucleus differentiation (GO:0007289) | 11.5591332 |
| 100 | acrosome reaction (GO:0007340) | 10.9318403 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 6.59737959 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 4.82698519 |
| 3 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 4.69727276 |
| 4 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.20133218 |
| 5 | EZH2_22144423_ChIP-Seq_EOC_Human | 3.13618101 |
| 6 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 2.83177569 |
| 7 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.58877753 |
| 8 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.52045411 |
| 9 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.52045411 |
| 10 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 2.19287985 |
| 11 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.18167241 |
| 12 | RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 2.11986765 |
| 13 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 2.05562769 |
| 14 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.97657519 |
| 15 | ERA_21632823_ChIP-Seq_H3396_Human | 1.92003752 |
| 16 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.90974929 |
| 17 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.89895670 |
| 18 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.86355382 |
| 19 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.84944471 |
| 20 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.83792414 |
| 21 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.77267289 |
| 22 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.73010232 |
| 23 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.69753586 |
| 24 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.69753586 |
| 25 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.69063075 |
| 26 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.68335820 |
| 27 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.64944340 |
| 28 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.63907940 |
| 29 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.62871104 |
| 30 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.61607832 |
| 31 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.56919345 |
| 32 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.55967870 |
| 33 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 1.55787405 |
| 34 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.55488122 |
| 35 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.53732368 |
| 36 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.52167117 |
| 37 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.50713788 |
| 38 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.50590070 |
| 39 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.50470303 |
| 40 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.50204722 |
| 41 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.49536050 |
| 42 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.49120882 |
| 43 | SOX2_16153702_ChIP-ChIP_HESCs_Human | 1.48069377 |
| 44 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 1.44585782 |
| 45 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 1.41591996 |
| 46 | SOX2_18555785_ChIP-Seq_MESCs_Mouse | 1.38464148 |
| 47 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.37980921 |
| 48 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.35584965 |
| 49 | P300_27268052_Chip-Seq_Bcells_Human | 1.33630978 |
| 50 | PHC1_16625203_ChIP-ChIP_MESCs_Mouse | 1.29644643 |
| 51 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.28479539 |
| 52 | P68_20966046_ChIP-Seq_HELA_Human | 1.28169033 |
| 53 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.25404714 |
| 54 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.23245580 |
| 55 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.22038720 |
| 56 | VDR_22108803_ChIP-Seq_LS180_Human | 1.19948074 |
| 57 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.19072326 |
| 58 | FUS_26573619_Chip-Seq_HEK293_Human | 1.18813660 |
| 59 | REST_18959480_ChIP-ChIP_MESCs_Mouse | 1.18599091 |
| 60 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.17917088 |
| 61 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.17165264 |
| 62 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.16352785 |
| 63 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.15808468 |
| 64 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.14854217 |
| 65 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.13704589 |
| 66 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.08904698 |
| 67 | TP53_20018659_ChIP-ChIP_R1E_Mouse | 1.08154333 |
| 68 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 1.07023560 |
| 69 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.06044444 |
| 70 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.05825723 |
| 71 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.04304734 |
| 72 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.02516439 |
| 73 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.01336421 |
| 74 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.00494556 |
| 75 | SA1_27219007_Chip-Seq_Bcells_Human | 0.99975779 |
| 76 | SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 0.99844135 |
| 77 | ER_23166858_ChIP-Seq_MCF-7_Human | 0.99735223 |
| 78 | AR_25329375_ChIP-Seq_VCAP_Human | 0.99704491 |
| 79 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 0.99077391 |
| 80 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 0.98803543 |
| 81 | SMC4_20622854_ChIP-Seq_HELA_Human | 0.98197864 |
| 82 | TP63_22573176_ChIP-Seq_HFKS_Human | 0.98043323 |
| 83 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 0.97334876 |
| 84 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 0.96832191 |
| 85 | P53_21459846_ChIP-Seq_SAOS-2_Human | 0.96664856 |
| 86 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 0.96386386 |
| 87 | RBPJ_21746931_ChIP-Seq_IB4_Human | 0.95288370 |
| 88 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 0.95203526 |
| 89 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 0.93687718 |
| 90 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 0.93503319 |
| 91 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 0.93095839 |
| 92 | OCT4_19829295_ChIP-Seq_ESCs_Human | 0.90834832 |
| 93 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 0.90422776 |
| 94 | CEBPB_22108803_ChIP-Seq_LS180_Human | 0.89583470 |
| 95 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 0.88846796 |
| 96 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 0.88846796 |
| 97 | NCOR_22424771_ChIP-Seq_293T_Human | 0.88646670 |
| 98 | RUNX2_22187159_ChIP-Seq_PCA_Human | 0.88640919 |
| 99 | NFYB_21822215_ChIP-Seq_K562_Human | 0.88120832 |
| 100 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 0.87925283 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 8.13557024 |
| 2 | MP0003878_abnormal_ear_physiology | 5.63042042 |
| 3 | MP0005377_hearing/vestibular/ear_phenot | 5.63042042 |
| 4 | MP0002822_catalepsy | 4.46298588 |
| 5 | MP0002102_abnormal_ear_morphology | 3.51347070 |
| 6 | MP0002234_abnormal_pharynx_morphology | 3.10663719 |
| 7 | MP0003698_abnormal_male_reproductive | 2.94385270 |
| 8 | MP0003011_delayed_dark_adaptation | 2.65352258 |
| 9 | MP0001348_abnormal_lacrimal_gland | 2.63326119 |
| 10 | MP0002249_abnormal_larynx_morphology | 2.60757143 |
| 11 | MP0009053_abnormal_anal_canal | 2.56590010 |
| 12 | MP0001485_abnormal_pinna_reflex | 2.54276915 |
| 13 | MP0005670_abnormal_white_adipose | 2.50118384 |
| 14 | MP0001929_abnormal_gametogenesis | 2.49206028 |
| 15 | MP0002282_abnormal_trachea_morphology | 2.44025944 |
| 16 | MP0002653_abnormal_ependyma_morphology | 2.10062785 |
| 17 | MP0003283_abnormal_digestive_organ | 2.02726631 |
| 18 | MP0005645_abnormal_hypothalamus_physiol | 1.99126943 |
| 19 | MP0000678_abnormal_parathyroid_gland | 1.94356350 |
| 20 | MP0000026_abnormal_inner_ear | 1.84448066 |
| 21 | MP0000049_abnormal_middle_ear | 1.68743378 |
| 22 | MP0002735_abnormal_chemical_nociception | 1.66518774 |
| 23 | MP0002161_abnormal_fertility/fecundity | 1.64568866 |
| 24 | MP0005623_abnormal_meninges_morphology | 1.60176260 |
| 25 | MP0003718_maternal_effect | 1.50611886 |
| 26 | MP0005084_abnormal_gallbladder_morpholo | 1.49313364 |
| 27 | MP0006292_abnormal_olfactory_placode | 1.44413286 |
| 28 | MP0009046_muscle_twitch | 1.43155176 |
| 29 | MP0004742_abnormal_vestibular_system | 1.37800796 |
| 30 | MP0001486_abnormal_startle_reflex | 1.33105805 |
| 31 | MP0005423_abnormal_somatic_nervous | 1.28554067 |
| 32 | MP0008789_abnormal_olfactory_epithelium | 1.27930526 |
| 33 | MP0005394_taste/olfaction_phenotype | 1.27453046 |
| 34 | MP0005499_abnormal_olfactory_system | 1.27453046 |
| 35 | MP0002132_abnormal_respiratory_system | 1.26132951 |
| 36 | MP0006276_abnormal_autonomic_nervous | 1.25698940 |
| 37 | MP0002638_abnormal_pupillary_reflex | 1.23679884 |
| 38 | MP0004510_myositis | 1.20089261 |
| 39 | MP0000534_abnormal_ureter_morphology | 1.16849315 |
| 40 | MP0003136_yellow_coat_color | 1.15874011 |
| 41 | MP0002210_abnormal_sex_determination | 1.14991733 |
| 42 | MP0008961_abnormal_basal_metabolism | 1.13049648 |
| 43 | MP0001963_abnormal_hearing_physiology | 1.12797431 |
| 44 | MP0001293_anophthalmia | 1.10022414 |
| 45 | MP0000566_synostosis | 1.05621694 |
| 46 | MP0000955_abnormal_spinal_cord | 1.03927267 |
| 47 | MP0002733_abnormal_thermal_nociception | 1.02602255 |
| 48 | MP0005253_abnormal_eye_physiology | 1.02183558 |
| 49 | MP0005551_abnormal_eye_electrophysiolog | 1.01943148 |
| 50 | MP0002938_white_spotting | 0.99679865 |
| 51 | MP0003938_abnormal_ear_development | 0.97466573 |
| 52 | MP0004859_abnormal_synaptic_plasticity | 0.96407137 |
| 53 | MP0003137_abnormal_impulse_conducting | 0.93773347 |
| 54 | MP0001145_abnormal_male_reproductive | 0.93138120 |
| 55 | MP0002557_abnormal_social/conspecific_i | 0.89213124 |
| 56 | MP0005379_endocrine/exocrine_gland_phen | 0.87683038 |
| 57 | MP0001529_abnormal_vocalization | 0.87628250 |
| 58 | MP0003077_abnormal_cell_cycle | 0.86953605 |
| 59 | MP0002928_abnormal_bile_duct | 0.86915904 |
| 60 | MP0001270_distended_abdomen | 0.84170848 |
| 61 | MP0000467_abnormal_esophagus_morphology | 0.83271883 |
| 62 | MP0002067_abnormal_sensory_capabilities | 0.82986244 |
| 63 | MP0000681_abnormal_thyroid_gland | 0.82984614 |
| 64 | MP0002752_abnormal_somatic_nervous | 0.81476318 |
| 65 | MP0002229_neurodegeneration | 0.81309099 |
| 66 | MP0000778_abnormal_nervous_system | 0.80675112 |
| 67 | MP0001765_abnormal_ion_homeostasis | 0.78724191 |
| 68 | MP0000653_abnormal_sex_gland | 0.78524854 |
| 69 | MP0003115_abnormal_respiratory_system | 0.77962384 |
| 70 | MP0000631_abnormal_neuroendocrine_gland | 0.77942524 |
| 71 | MP0002882_abnormal_neuron_morphology | 0.76870253 |
| 72 | MP0002751_abnormal_autonomic_nervous | 0.75244386 |
| 73 | MP0005391_vision/eye_phenotype | 0.74853191 |
| 74 | MP0001970_abnormal_pain_threshold | 0.74114750 |
| 75 | MP0009745_abnormal_behavioral_response | 0.70364171 |
| 76 | MP0002572_abnormal_emotion/affect_behav | 0.68492917 |
| 77 | MP0005451_abnormal_body_composition | 0.68367809 |
| 78 | MP0003646_muscle_fatigue | 0.65540210 |
| 79 | MP0004085_abnormal_heartbeat | 0.65372880 |
| 80 | MP0002697_abnormal_eye_size | 0.65205633 |
| 81 | MP0005083_abnormal_biliary_tract | 0.64160310 |
| 82 | MP0003755_abnormal_palate_morphology | 0.63222513 |
| 83 | MP0003119_abnormal_digestive_system | 0.62922999 |
| 84 | MP0004145_abnormal_muscle_electrophysio | 0.62705963 |
| 85 | MP0002233_abnormal_nose_morphology | 0.59143969 |
| 86 | MP0002272_abnormal_nervous_system | 0.58988441 |
| 87 | MP0003879_abnormal_hair_cell | 0.58155520 |
| 88 | MP0001968_abnormal_touch/_nociception | 0.58001782 |
| 89 | MP0001299_abnormal_eye_distance/ | 0.57377825 |
| 90 | MP0003935_abnormal_craniofacial_develop | 0.55996942 |
| 91 | MP0001286_abnormal_eye_development | 0.55612083 |
| 92 | MP0001340_abnormal_eyelid_morphology | 0.55394095 |
| 93 | MP0002160_abnormal_reproductive_system | 0.54238814 |
| 94 | MP0005195_abnormal_posterior_eye | 0.52547821 |
| 95 | MP0004142_abnormal_muscle_tone | 0.52243562 |
| 96 | MP0002127_abnormal_cardiovascular_syste | 0.52217765 |
| 97 | MP0005595_abnormal_vascular_smooth | 0.49449060 |
| 98 | MP0002932_abnormal_joint_morphology | 0.49022312 |
| 99 | MP0003861_abnormal_nervous_system | 0.48679307 |
| 100 | MP0000470_abnormal_stomach_morphology | 0.46707107 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Bony spicule pigmentary retinopathy (HP:0007737) | 5.64132264 |
| 2 | Severe visual impairment (HP:0001141) | 5.28349485 |
| 3 | Attenuation of retinal blood vessels (HP:0007843) | 5.07665679 |
| 4 | Posterior subcapsular cataract (HP:0007787) | 4.66650663 |
| 5 | Abnormal ciliary motility (HP:0012262) | 4.41518417 |
| 6 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 4.36469647 |
| 7 | Absent/shortened dynein arms (HP:0200106) | 4.36469647 |
| 8 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.98725400 |
| 9 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.96549208 |
| 10 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.96549208 |
| 11 | Abnormal respiratory motile cilium physiology (HP:0012261) | 3.68392740 |
| 12 | Hypoplastic ischia (HP:0003175) | 3.58318341 |
| 13 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 3.50571335 |
| 14 | Intestinal atresia (HP:0011100) | 3.35836770 |
| 15 | Subcapsular cataract (HP:0000523) | 3.29726238 |
| 16 | Ulnar claw (HP:0001178) | 3.24101906 |
| 17 | Esophageal atresia (HP:0002032) | 3.19361132 |
| 18 | Scotoma (HP:0000575) | 3.06677549 |
| 19 | Nasal polyposis (HP:0100582) | 3.00850939 |
| 20 | Abnormality of the ischium (HP:0003174) | 2.97745746 |
| 21 | Chronic hepatic failure (HP:0100626) | 2.96845539 |
| 22 | Enlarged epiphyses (HP:0010580) | 2.92478826 |
| 23 | Chorioretinal atrophy (HP:0000533) | 2.88281509 |
| 24 | Facial shape deformation (HP:0011334) | 2.83870905 |
| 25 | Potter facies (HP:0002009) | 2.83870905 |
| 26 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 2.83686852 |
| 27 | Generalized aminoaciduria (HP:0002909) | 2.79386510 |
| 28 | Unilateral renal agenesis (HP:0000122) | 2.77351407 |
| 29 | Asymmetric septal hypertrophy (HP:0001670) | 2.77174951 |
| 30 | Flattened epiphyses (HP:0003071) | 2.73335462 |
| 31 | Infertility (HP:0000789) | 2.70790797 |
| 32 | Central scotoma (HP:0000603) | 2.70625006 |
| 33 | Insidious onset (HP:0003587) | 2.70019151 |
| 34 | Termporal pattern (HP:0011008) | 2.70019151 |
| 35 | Abnormality of macular pigmentation (HP:0008002) | 2.66962297 |
| 36 | Progressive sensorineural hearing impairment (HP:0000408) | 2.65972468 |
| 37 | Optic nerve hypoplasia (HP:0000609) | 2.62996668 |
| 38 | Maternal diabetes (HP:0009800) | 2.59841869 |
| 39 | Constricted visual fields (HP:0001133) | 2.57807828 |
| 40 | Optic disc pallor (HP:0000543) | 2.55050597 |
| 41 | Renal dysplasia (HP:0000110) | 2.50928607 |
| 42 | Type II diabetes mellitus (HP:0005978) | 2.46611335 |
| 43 | Abnormality of the aortic arch (HP:0012303) | 2.43513495 |
| 44 | Abnormality of the nasal mucosa (HP:0000433) | 2.41094852 |
| 45 | Bell-shaped thorax (HP:0001591) | 2.36186404 |
| 46 | Decreased central vision (HP:0007663) | 2.35207970 |
| 47 | Retinal dysplasia (HP:0007973) | 2.35088533 |
| 48 | Tubulointerstitial nephritis (HP:0001970) | 2.33129830 |
| 49 | Abnormality of the parathyroid morphology (HP:0011766) | 2.31479848 |
| 50 | Nephronophthisis (HP:0000090) | 2.29775025 |
| 51 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 2.26681313 |
| 52 | Abnormality of the phalanges of the 2nd finger (HP:0009541) | 2.26619964 |
| 53 | Bilateral microphthalmos (HP:0007633) | 2.26205259 |
| 54 | Median cleft lip (HP:0000161) | 2.26128312 |
| 55 | Upper limb muscle weakness (HP:0003484) | 2.25257094 |
| 56 | Gastrointestinal atresia (HP:0002589) | 2.25076206 |
| 57 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 2.24077407 |
| 58 | Absent epiphyses (HP:0010577) | 2.24077407 |
| 59 | Male infertility (HP:0003251) | 2.22969477 |
| 60 | Ventricular fibrillation (HP:0001663) | 2.21951764 |
| 61 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.19391479 |
| 62 | Stage 5 chronic kidney disease (HP:0003774) | 2.15540528 |
| 63 | Septo-optic dysplasia (HP:0100842) | 2.15296805 |
| 64 | Birth length less than 3rd percentile (HP:0003561) | 2.14172140 |
| 65 | Azoospermia (HP:0000027) | 2.08874432 |
| 66 | Photophobia (HP:0000613) | 2.07991090 |
| 67 | Muscle fiber atrophy (HP:0100295) | 2.06373435 |
| 68 | Flat capital femoral epiphysis (HP:0003370) | 2.04767485 |
| 69 | Limb dystonia (HP:0002451) | 2.02321726 |
| 70 | Respiratory distress (HP:0002098) | 1.99946160 |
| 71 | Congenital stationary night blindness (HP:0007642) | 1.98820471 |
| 72 | Patellar aplasia (HP:0006443) | 1.96801541 |
| 73 | Resting tremor (HP:0002322) | 1.96366569 |
| 74 | Impulsivity (HP:0100710) | 1.94435351 |
| 75 | Abnormal urine output (HP:0012590) | 1.94432500 |
| 76 | Congenital malformation of the right heart (HP:0011723) | 1.92091783 |
| 77 | Double outlet right ventricle (HP:0001719) | 1.92091783 |
| 78 | Pendular nystagmus (HP:0012043) | 1.92071168 |
| 79 | Abnormality of the pubic bones (HP:0003172) | 1.91971155 |
| 80 | Horizontal nystagmus (HP:0000666) | 1.91947874 |
| 81 | Cone-rod dystrophy (HP:0000548) | 1.89485155 |
| 82 | Abnormal spermatogenesis (HP:0008669) | 1.87845087 |
| 83 | Short palpebral fissure (HP:0012745) | 1.86267238 |
| 84 | Focal segmental glomerulosclerosis (HP:0000097) | 1.84206498 |
| 85 | Hyperkalemia (HP:0002153) | 1.84094596 |
| 86 | Rhinitis (HP:0012384) | 1.83560649 |
| 87 | Sclerocornea (HP:0000647) | 1.81224864 |
| 88 | Depressed nasal tip (HP:0000437) | 1.80609234 |
| 89 | Failure to thrive in infancy (HP:0001531) | 1.79292075 |
| 90 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 1.78219149 |
| 91 | Abnormality of the renal medulla (HP:0100957) | 1.76668913 |
| 92 | Progressive cerebellar ataxia (HP:0002073) | 1.76249052 |
| 93 | Atelectasis (HP:0100750) | 1.74300566 |
| 94 | Bradycardia (HP:0001662) | 1.72133193 |
| 95 | Aplasia/Hypoplasia of the patella (HP:0006498) | 1.71265732 |
| 96 | Large eyes (HP:0001090) | 1.71172949 |
| 97 | Renovascular hypertension (HP:0100817) | 1.70902290 |
| 98 | Polyuria (HP:0000103) | 1.70106266 |
| 99 | Supernumerary spleens (HP:0009799) | 1.69891310 |
| 100 | Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376) | 1.67751351 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MAP4K2 | 7.60786924 |
| 2 | PLK4 | 6.21737500 |
| 3 | DDR2 | 4.16446224 |
| 4 | TESK1 | 3.85427093 |
| 5 | ZAK | 3.63845043 |
| 6 | VRK1 | 3.45120676 |
| 7 | TLK1 | 2.73893896 |
| 8 | MAPK15 | 2.72805791 |
| 9 | INSRR | 2.51471100 |
| 10 | PLK2 | 2.26789832 |
| 11 | PIM2 | 1.88162974 |
| 12 | PNCK | 1.74474281 |
| 13 | DYRK3 | 1.73217046 |
| 14 | RPS6KA5 | 1.57741992 |
| 15 | AURKA | 1.52671951 |
| 16 | CCNB1 | 1.36003587 |
| 17 | CDK12 | 1.34876312 |
| 18 | UHMK1 | 1.33024313 |
| 19 | PKN1 | 1.32815039 |
| 20 | DAPK3 | 1.31730736 |
| 21 | BCKDK | 1.26365411 |
| 22 | DYRK1B | 1.19762032 |
| 23 | BRD4 | 1.14480227 |
| 24 | VRK2 | 1.11722937 |
| 25 | PASK | 1.10988759 |
| 26 | TAF1 | 1.10915655 |
| 27 | WNK1 | 1.03150962 |
| 28 | CDK7 | 1.02821634 |
| 29 | PIK3CG | 1.01157258 |
| 30 | MAP2K7 | 0.99018758 |
| 31 | ADRBK2 | 0.89429213 |
| 32 | CDK3 | 0.87392864 |
| 33 | LATS2 | 0.85568758 |
| 34 | NUAK1 | 0.78573267 |
| 35 | BRAF | 0.73949042 |
| 36 | STK38 | 0.70915525 |
| 37 | PTK2B | 0.67372587 |
| 38 | WEE1 | 0.59774942 |
| 39 | RPS6KA2 | 0.58540557 |
| 40 | CHEK2 | 0.54876500 |
| 41 | MARK1 | 0.53628553 |
| 42 | TESK2 | 0.53508584 |
| 43 | AURKB | 0.53410655 |
| 44 | DYRK2 | 0.52619351 |
| 45 | KIT | 0.52433922 |
| 46 | MAPKAPK5 | 0.52313156 |
| 47 | CDC7 | 0.51558544 |
| 48 | ARAF | 0.51555912 |
| 49 | RPS6KA4 | 0.50749441 |
| 50 | TSSK6 | 0.50734917 |
| 51 | PDPK1 | 0.50396966 |
| 52 | RPS6KA6 | 0.50172814 |
| 53 | PAK2 | 0.48718171 |
| 54 | RPS6KA1 | 0.48590598 |
| 55 | PDK1 | 0.47323952 |
| 56 | PRKD3 | 0.44566236 |
| 57 | SRPK1 | 0.43746672 |
| 58 | BRSK2 | 0.42735809 |
| 59 | BMPR1B | 0.41480578 |
| 60 | BCR | 0.41358120 |
| 61 | MAP3K4 | 0.41265305 |
| 62 | MAP2K2 | 0.40635536 |
| 63 | STK38L | 0.36374105 |
| 64 | ROCK1 | 0.35833302 |
| 65 | PRKG1 | 0.35609441 |
| 66 | CSNK1G2 | 0.34407556 |
| 67 | MAPK13 | 0.34327242 |
| 68 | CDK2 | 0.34062987 |
| 69 | NME2 | 0.33880645 |
| 70 | NEK2 | 0.32791293 |
| 71 | RAF1 | 0.31848881 |
| 72 | BRSK1 | 0.29884983 |
| 73 | PLK3 | 0.28519008 |
| 74 | GSK3B | 0.28461568 |
| 75 | CLK1 | 0.28425747 |
| 76 | CDK9 | 0.28212606 |
| 77 | RPS6KL1 | 0.27653438 |
| 78 | RPS6KC1 | 0.27653438 |
| 79 | MAPK1 | 0.26331716 |
| 80 | CAMK1G | 0.25840983 |
| 81 | CDK1 | 0.25705831 |
| 82 | DAPK2 | 0.25356249 |
| 83 | CSNK1G3 | 0.24587102 |
| 84 | CHEK1 | 0.24193950 |
| 85 | BUB1 | 0.22891372 |
| 86 | CSF1R | 0.22489073 |
| 87 | PRKAA1 | 0.21958172 |
| 88 | MOS | 0.21828103 |
| 89 | ADRBK1 | 0.20582298 |
| 90 | CDK4 | 0.20405011 |
| 91 | CDK11A | 0.20385520 |
| 92 | AKT2 | 0.20262827 |
| 93 | CSNK1A1 | 0.18799117 |
| 94 | MAP3K5 | 0.18718202 |
| 95 | CDK14 | 0.18298688 |
| 96 | STK16 | 0.18101239 |
| 97 | PBK | 0.17468794 |
| 98 | MTOR | 0.17172977 |
| 99 | AKT1 | 0.16695069 |
| 100 | BTK | 0.16504975 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 6.20266322 |
| 2 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 5.63087157 |
| 3 | Alcoholism_Homo sapiens_hsa05034 | 4.52055700 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.92138674 |
| 5 | Allograft rejection_Homo sapiens_hsa05330 | 2.72302569 |
| 6 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 2.64594095 |
| 7 | Graft-versus-host disease_Homo sapiens_hsa05332 | 2.46968166 |
| 8 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 2.34592411 |
| 9 | Olfactory transduction_Homo sapiens_hsa04740 | 2.28748801 |
| 10 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 2.08219984 |
| 11 | Viral myocarditis_Homo sapiens_hsa05416 | 2.03328801 |
| 12 | Antigen processing and presentation_Homo sapiens_hsa04612 | 2.02966134 |
| 13 | Viral carcinogenesis_Homo sapiens_hsa05203 | 1.85772898 |
| 14 | Phototransduction_Homo sapiens_hsa04744 | 1.85032440 |
| 15 | Taste transduction_Homo sapiens_hsa04742 | 1.79480033 |
| 16 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.75932469 |
| 17 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.68849065 |
| 18 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 1.54945741 |
| 19 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.43684605 |
| 20 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.38845282 |
| 21 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.33443707 |
| 22 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.25412434 |
| 23 | Basal cell carcinoma_Homo sapiens_hsa05217 | 1.25306697 |
| 24 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 1.18650044 |
| 25 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.16457022 |
| 26 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.15231396 |
| 27 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.11411827 |
| 28 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 1.09218144 |
| 29 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.08183972 |
| 30 | Huntingtons disease_Homo sapiens_hsa05016 | 1.03830964 |
| 31 | GABAergic synapse_Homo sapiens_hsa04727 | 1.03811230 |
| 32 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.02191752 |
| 33 | Spliceosome_Homo sapiens_hsa03040 | 1.00194894 |
| 34 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.95501909 |
| 35 | Sulfur relay system_Homo sapiens_hsa04122 | 0.95461994 |
| 36 | RNA transport_Homo sapiens_hsa03013 | 0.95421910 |
| 37 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 0.95055580 |
| 38 | Nicotine addiction_Homo sapiens_hsa05033 | 0.94250734 |
| 39 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.92123063 |
| 40 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.91306517 |
| 41 | Morphine addiction_Homo sapiens_hsa05032 | 0.87825497 |
| 42 | Parkinsons disease_Homo sapiens_hsa05012 | 0.85104050 |
| 43 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.83184329 |
| 44 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 0.81566585 |
| 45 | Circadian entrainment_Homo sapiens_hsa04713 | 0.81456838 |
| 46 | Salivary secretion_Homo sapiens_hsa04970 | 0.79870586 |
| 47 | Purine metabolism_Homo sapiens_hsa00230 | 0.79244757 |
| 48 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.77292574 |
| 49 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.76617635 |
| 50 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.73856495 |
| 51 | Asthma_Homo sapiens_hsa05310 | 0.70218876 |
| 52 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.67123382 |
| 53 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.66766449 |
| 54 | Basal transcription factors_Homo sapiens_hsa03022 | 0.65751694 |
| 55 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.63669682 |
| 56 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.63264366 |
| 57 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.54412928 |
| 58 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.52698658 |
| 59 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.51487110 |
| 60 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.51124972 |
| 61 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.51100452 |
| 62 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.50325186 |
| 63 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.49953806 |
| 64 | Endocytosis_Homo sapiens_hsa04144 | 0.48125515 |
| 65 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.45782425 |
| 66 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.44975366 |
| 67 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.41643738 |
| 68 | RNA polymerase_Homo sapiens_hsa03020 | 0.36802242 |
| 69 | Lysine degradation_Homo sapiens_hsa00310 | 0.36277243 |
| 70 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.36104162 |
| 71 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.35334585 |
| 72 | Phagosome_Homo sapiens_hsa04145 | 0.34747422 |
| 73 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.34405262 |
| 74 | Bladder cancer_Homo sapiens_hsa05219 | 0.34318738 |
| 75 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.33241365 |
| 76 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.32761632 |
| 77 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.32422389 |
| 78 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.32389461 |
| 79 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.32149181 |
| 80 | Base excision repair_Homo sapiens_hsa03410 | 0.31489743 |
| 81 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.31284680 |
| 82 | Alzheimers disease_Homo sapiens_hsa05010 | 0.29781335 |
| 83 | Influenza A_Homo sapiens_hsa05164 | 0.29478842 |
| 84 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.29088683 |
| 85 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.28794443 |
| 86 | Cell cycle_Homo sapiens_hsa04110 | 0.27385445 |
| 87 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.26905563 |
| 88 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.25861307 |
| 89 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.25789356 |
| 90 | Cocaine addiction_Homo sapiens_hsa05030 | 0.25774645 |
| 91 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.22274144 |
| 92 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.21802381 |
| 93 | Melanogenesis_Homo sapiens_hsa04916 | 0.21519017 |
| 94 | Axon guidance_Homo sapiens_hsa04360 | 0.20213809 |
| 95 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.20201823 |
| 96 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.19390557 |
| 97 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.19336406 |
| 98 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.18075695 |
| 99 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.17941170 |
| 100 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.17881806 |

