

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | plasma membrane fusion (GO:0045026) | 9.31752401 |
| 2 | sperm capacitation (GO:0048240) | 8.37725897 |
| 3 | spermatid development (GO:0007286) | 8.20694511 |
| 4 | multicellular organism reproduction (GO:0032504) | 8.19130893 |
| 5 | sperm-egg recognition (GO:0035036) | 8.01548963 |
| 6 | response to pheromone (GO:0019236) | 7.71016434 |
| 7 | DNA packaging (GO:0006323) | 7.63173884 |
| 8 | chromosome condensation (GO:0030261) | 7.63005465 |
| 9 | single strand break repair (GO:0000012) | 7.60300051 |
| 10 | binding of sperm to zona pellucida (GO:0007339) | 7.48488335 |
| 11 | microtubule depolymerization (GO:0007019) | 7.43658840 |
| 12 | reproduction (GO:0000003) | 7.22805717 |
| 13 | rRNA methylation (GO:0031167) | 7.05453261 |
| 14 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.99620730 |
| 15 | protein targeting to Golgi (GO:0000042) | 6.75738827 |
| 16 | microtubule severing (GO:0051013) | 6.71572406 |
| 17 | cell-cell recognition (GO:0009988) | 6.63341541 |
| 18 | calcium ion-dependent exocytosis (GO:0017156) | 6.59751444 |
| 19 | spermatid nucleus differentiation (GO:0007289) | 6.54572130 |
| 20 | phosphatidylethanolamine metabolic process (GO:0046337) | 6.51661953 |
| 21 | establishment of protein localization to Golgi (GO:0072600) | 6.46752865 |
| 22 | protein polyglutamylation (GO:0018095) | 6.42936817 |
| 23 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 6.28779248 |
| 24 | negative regulation of inclusion body assembly (GO:0090084) | 6.28378867 |
| 25 | spermatogenesis (GO:0007283) | 6.09862661 |
| 26 | male gamete generation (GO:0048232) | 6.07780633 |
| 27 | microtubule polymerization or depolymerization (GO:0031109) | 6.04957231 |
| 28 | rRNA modification (GO:0000154) | 5.89577447 |
| 29 | axonemal dynein complex assembly (GO:0070286) | 5.81802839 |
| 30 | sexual reproduction (GO:0019953) | 5.64766757 |
| 31 | gamete generation (GO:0007276) | 5.63066739 |
| 32 | single fertilization (GO:0007338) | 5.43038066 |
| 33 | centriole replication (GO:0007099) | 5.20022461 |
| 34 | regulation of cilium movement (GO:0003352) | 5.19483735 |
| 35 | regulation of Rab GTPase activity (GO:0032313) | 4.99374167 |
| 36 | positive regulation of Rab GTPase activity (GO:0032851) | 4.99374167 |
| 37 | protein localization to Golgi apparatus (GO:0034067) | 4.96673744 |
| 38 | germ cell development (GO:0007281) | 4.94236645 |
| 39 | cellular ketone body metabolic process (GO:0046950) | 4.88080574 |
| 40 | centriole assembly (GO:0098534) | 4.80474771 |
| 41 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.80463071 |
| 42 | response to acidic pH (GO:0010447) | 4.75997116 |
| 43 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.70761750 |
| 44 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.60585125 |
| 45 | male meiosis I (GO:0007141) | 4.57101163 |
| 46 | fertilization (GO:0009566) | 4.54220403 |
| 47 | multicellular organismal reproductive process (GO:0048609) | 4.50792279 |
| 48 | male meiosis (GO:0007140) | 4.47755083 |
| 49 | epithelial cilium movement (GO:0003351) | 4.44369583 |
| 50 | cell wall macromolecule metabolic process (GO:0044036) | 4.35698082 |
| 51 | regulation of inclusion body assembly (GO:0090083) | 4.33884745 |
| 52 | motile cilium assembly (GO:0044458) | 4.33215821 |
| 53 | cell wall macromolecule catabolic process (GO:0016998) | 4.32183247 |
| 54 | ketone body metabolic process (GO:1902224) | 4.29301540 |
| 55 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 4.18392300 |
| 56 | Golgi to endosome transport (GO:0006895) | 4.11060524 |
| 57 | seminiferous tubule development (GO:0072520) | 3.99441839 |
| 58 | regulation of meiosis I (GO:0060631) | 3.97468289 |
| 59 | RNA destabilization (GO:0050779) | 3.96769485 |
| 60 | organic cation transport (GO:0015695) | 3.95807377 |
| 61 | regulation of centriole replication (GO:0046599) | 3.84144350 |
| 62 | cilium movement (GO:0003341) | 3.80183820 |
| 63 | piRNA metabolic process (GO:0034587) | 3.70981322 |
| 64 | meiosis I (GO:0007127) | 3.55156049 |
| 65 | histone H3-K9 demethylation (GO:0033169) | 3.54829823 |
| 66 | nucleus organization (GO:0006997) | 3.52744714 |
| 67 | coenzyme catabolic process (GO:0009109) | 3.50899731 |
| 68 | regulation of microtubule-based movement (GO:0060632) | 3.42885948 |
| 69 | synapsis (GO:0007129) | 3.37696277 |
| 70 | multicellular organismal movement (GO:0050879) | 3.36302747 |
| 71 | musculoskeletal movement (GO:0050881) | 3.36302747 |
| 72 | polyamine biosynthetic process (GO:0006596) | 3.35710906 |
| 73 | peptide catabolic process (GO:0043171) | 3.33078455 |
| 74 | cerebral cortex neuron differentiation (GO:0021895) | 3.31774077 |
| 75 | chromatin silencing (GO:0006342) | 3.30385786 |
| 76 | chromosome organization involved in meiosis (GO:0070192) | 3.28464941 |
| 77 | DNA methylation involved in gamete generation (GO:0043046) | 3.23818573 |
| 78 | cellular response to pH (GO:0071467) | 3.15336548 |
| 79 | synaptonemal complex assembly (GO:0007130) | 3.10317844 |
| 80 | cell recognition (GO:0008037) | 3.10059908 |
| 81 | glycerol ether metabolic process (GO:0006662) | 3.09343534 |
| 82 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 3.08302703 |
| 83 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 3.08302703 |
| 84 | microtubule nucleation (GO:0007020) | 3.05030183 |
| 85 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 3.04360075 |
| 86 | multicellular organismal development (GO:0007275) | 3.03194249 |
| 87 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.02229316 |
| 88 | oocyte development (GO:0048599) | 2.96949105 |
| 89 | positive regulation of endothelial cell differentiation (GO:0045603) | 2.96820082 |
| 90 | meiotic nuclear division (GO:0007126) | 2.96359007 |
| 91 | positive regulation of guanylate cyclase activity (GO:0031284) | 2.89376728 |
| 92 | ether metabolic process (GO:0018904) | 2.85622648 |
| 93 | regulation of female gonad development (GO:2000194) | 2.85310793 |
| 94 | histone exchange (GO:0043486) | 2.84802842 |
| 95 | synaptonemal complex organization (GO:0070193) | 2.84800695 |
| 96 | positive regulation of meiotic cell cycle (GO:0051446) | 2.82482914 |
| 97 | protein depolymerization (GO:0051261) | 2.79719970 |
| 98 | fusion of sperm to egg plasma membrane (GO:0007342) | 12.2113136 |
| 99 | acrosome reaction (GO:0007340) | 11.9871064 |
| 100 | sperm motility (GO:0030317) | 11.3731129 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 5.58570265 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.31800980 |
| 3 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.89557201 |
| 4 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.42832192 |
| 5 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.40464810 |
| 6 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.40464810 |
| 7 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.34715637 |
| 8 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.27715246 |
| 9 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.23404938 |
| 10 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.22601762 |
| 11 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.22601762 |
| 12 | FUS_26573619_Chip-Seq_HEK293_Human | 2.10995770 |
| 13 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.97243442 |
| 14 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.97133016 |
| 15 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.88007232 |
| 16 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.87982775 |
| 17 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.85916671 |
| 18 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.84595355 |
| 19 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.80202327 |
| 20 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.78162485 |
| 21 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.76493309 |
| 22 | ERA_21632823_ChIP-Seq_H3396_Human | 1.75882041 |
| 23 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.75645644 |
| 24 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.71380281 |
| 25 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.66639946 |
| 26 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.66534779 |
| 27 | AR_25329375_ChIP-Seq_VCAP_Human | 1.64086039 |
| 28 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.62247434 |
| 29 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.60471742 |
| 30 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.60469146 |
| 31 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.58029260 |
| 32 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.57041076 |
| 33 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.54883428 |
| 34 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.54191801 |
| 35 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.52293683 |
| 36 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.50500346 |
| 37 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.50080067 |
| 38 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.49912671 |
| 39 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.47960298 |
| 40 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.46579349 |
| 41 | P300_19829295_ChIP-Seq_ESCs_Human | 1.46308492 |
| 42 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.43433071 |
| 43 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.42784076 |
| 44 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.41570728 |
| 45 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.40283988 |
| 46 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.39572468 |
| 47 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.38522027 |
| 48 | NFYB_21822215_ChIP-Seq_K562_Human | 1.37982481 |
| 49 | TBL1_22424771_ChIP-Seq_293T_Human | 1.37549800 |
| 50 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.36716719 |
| 51 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.36421052 |
| 52 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.36421052 |
| 53 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.35696815 |
| 54 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.35573608 |
| 55 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.35428173 |
| 56 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.35180075 |
| 57 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.34970224 |
| 58 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.33188924 |
| 59 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.33017741 |
| 60 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.30475723 |
| 61 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.30352277 |
| 62 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.29297557 |
| 63 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.29085221 |
| 64 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.28580835 |
| 65 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.26591330 |
| 66 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.25989294 |
| 67 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.25986975 |
| 68 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.25714809 |
| 69 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.24579050 |
| 70 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.24457431 |
| 71 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.23384071 |
| 72 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.22637478 |
| 73 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.21850950 |
| 74 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.21318582 |
| 75 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.20871640 |
| 76 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.20247427 |
| 77 | P300_27268052_Chip-Seq_Bcells_Human | 1.20060640 |
| 78 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.18689030 |
| 79 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.17524398 |
| 80 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.17264827 |
| 81 | STAT3_23295773_ChIP-Seq_U87_Human | 1.17195142 |
| 82 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.16096912 |
| 83 | NFYA_21822215_ChIP-Seq_K562_Human | 1.15351758 |
| 84 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.14134476 |
| 85 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.13168948 |
| 86 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.12364409 |
| 87 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.12111935 |
| 88 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.10410088 |
| 89 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.09772807 |
| 90 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.09508076 |
| 91 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.09427602 |
| 92 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.09323776 |
| 93 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.08855978 |
| 94 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.08855978 |
| 95 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.08427578 |
| 96 | FOXH1_21741376_ChIP-Seq_ESCs_Human | 1.07269738 |
| 97 | VDR_22108803_ChIP-Seq_LS180_Human | 1.05800677 |
| 98 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.05652378 |
| 99 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.05381176 |
| 100 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.03491840 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003878_abnormal_ear_physiology | 4.84430297 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 4.84430297 |
| 3 | MP0003698_abnormal_male_reproductive | 4.56305108 |
| 4 | MP0001929_abnormal_gametogenesis | 4.19018654 |
| 5 | MP0005670_abnormal_white_adipose | 4.17225651 |
| 6 | MP0002161_abnormal_fertility/fecundity | 2.51207153 |
| 7 | MP0005379_endocrine/exocrine_gland_phen | 2.44904730 |
| 8 | MP0002210_abnormal_sex_determination | 2.39080313 |
| 9 | MP0005451_abnormal_body_composition | 2.28267737 |
| 10 | MP0000678_abnormal_parathyroid_gland | 2.20980602 |
| 11 | MP0001348_abnormal_lacrimal_gland | 2.15877266 |
| 12 | MP0003718_maternal_effect | 2.15833387 |
| 13 | MP0009697_abnormal_copulation | 2.02588302 |
| 14 | MP0005410_abnormal_fertilization | 11.9963387 |
| 15 | MP0001145_abnormal_male_reproductive | 1.90799931 |
| 16 | MP0000653_abnormal_sex_gland | 1.86344745 |
| 17 | MP0008877_abnormal_DNA_methylation | 1.73350235 |
| 18 | MP0003011_delayed_dark_adaptation | 1.68569212 |
| 19 | MP0002132_abnormal_respiratory_system | 1.67887307 |
| 20 | MP0005423_abnormal_somatic_nervous | 1.45439935 |
| 21 | MP0004510_myositis | 1.41086169 |
| 22 | MP0001485_abnormal_pinna_reflex | 1.37461379 |
| 23 | MP0003646_muscle_fatigue | 1.30429155 |
| 24 | MP0001765_abnormal_ion_homeostasis | 1.29978880 |
| 25 | MP0002138_abnormal_hepatobiliary_system | 1.25885758 |
| 26 | MP0005310_abnormal_salivary_gland | 1.23884678 |
| 27 | MP0001486_abnormal_startle_reflex | 1.22094573 |
| 28 | MP0003879_abnormal_hair_cell | 1.21901587 |
| 29 | MP0002822_catalepsy | 1.21442269 |
| 30 | MP0010386_abnormal_urinary_bladder | 1.20992465 |
| 31 | MP0008995_early_reproductive_senescence | 1.20137605 |
| 32 | MP0005666_abnormal_adipose_tissue | 1.14027021 |
| 33 | MP0002234_abnormal_pharynx_morphology | 1.13149604 |
| 34 | MP0002735_abnormal_chemical_nociception | 1.08993075 |
| 35 | MP0001963_abnormal_hearing_physiology | 1.05485610 |
| 36 | MP0004742_abnormal_vestibular_system | 1.05409217 |
| 37 | MP0005395_other_phenotype | 1.05152170 |
| 38 | MP0008004_abnormal_stomach_pH | 1.03820277 |
| 39 | MP0001440_abnormal_grooming_behavior | 1.02585758 |
| 40 | MP0001984_abnormal_olfaction | 1.02439740 |
| 41 | MP0002163_abnormal_gland_morphology | 1.01995361 |
| 42 | MP0002160_abnormal_reproductive_system | 0.99963736 |
| 43 | MP0001905_abnormal_dopamine_level | 0.97988751 |
| 44 | MP0001879_abnormal_lymphatic_vessel | 0.97465616 |
| 45 | MP0005551_abnormal_eye_electrophysiolog | 0.96821875 |
| 46 | MP0000534_abnormal_ureter_morphology | 0.95706655 |
| 47 | MP0001968_abnormal_touch/_nociception | 0.95182443 |
| 48 | MP0005375_adipose_tissue_phenotype | 0.93882009 |
| 49 | MP0000026_abnormal_inner_ear | 0.91788672 |
| 50 | MP0002229_neurodegeneration | 0.88168041 |
| 51 | MP0005253_abnormal_eye_physiology | 0.87990939 |
| 52 | MP0004085_abnormal_heartbeat | 0.86347806 |
| 53 | MP0010368_abnormal_lymphatic_system | 0.82387976 |
| 54 | MP0002102_abnormal_ear_morphology | 0.81020541 |
| 55 | MP0002249_abnormal_larynx_morphology | 0.79270325 |
| 56 | MP0009053_abnormal_anal_canal | 0.79103260 |
| 57 | MP0000003_abnormal_adipose_tissue | 0.77907327 |
| 58 | MP0002282_abnormal_trachea_morphology | 0.76500059 |
| 59 | MP0004019_abnormal_vitamin_homeostasis | 0.76147077 |
| 60 | MP0005167_abnormal_blood-brain_barrier | 0.76080215 |
| 61 | MP0002127_abnormal_cardiovascular_syste | 0.75477145 |
| 62 | MP0005647_abnormal_sex_gland | 0.74319608 |
| 63 | MP0003806_abnormal_nucleotide_metabolis | 0.72256273 |
| 64 | MP0003880_abnormal_central_pattern | 0.71438669 |
| 65 | MP0005636_abnormal_mineral_homeostasis | 0.71137444 |
| 66 | MP0004036_abnormal_muscle_relaxation | 0.67018204 |
| 67 | MP0000681_abnormal_thyroid_gland | 0.66919009 |
| 68 | MP0001756_abnormal_urination | 0.66030377 |
| 69 | MP0002067_abnormal_sensory_capabilities | 0.65619169 |
| 70 | MP0003183_abnormal_peptide_metabolism | 0.64138891 |
| 71 | MP0001119_abnormal_female_reproductive | 0.63804071 |
| 72 | MP0009115_abnormal_fat_cell | 0.63728065 |
| 73 | MP0003699_abnormal_female_reproductive | 0.62826009 |
| 74 | MP0005248_abnormal_Harderian_gland | 0.60405543 |
| 75 | MP0005084_abnormal_gallbladder_morpholo | 0.57959714 |
| 76 | MP0004484_altered_response_of | 0.56875372 |
| 77 | MP0001666_abnormal_nutrient_absorption | 0.56874818 |
| 78 | MP0005535_abnormal_body_temperature | 0.55402464 |
| 79 | MP0009745_abnormal_behavioral_response | 0.54836176 |
| 80 | MP0000230_abnormal_systemic_arterial | 0.54557243 |
| 81 | MP0002572_abnormal_emotion/affect_behav | 0.54297693 |
| 82 | MP0002272_abnormal_nervous_system | 0.52546286 |
| 83 | MP0000049_abnormal_middle_ear | 0.52263379 |
| 84 | MP0002557_abnormal_social/conspecific_i | 0.51193413 |
| 85 | MP0004859_abnormal_synaptic_plasticity | 0.50303323 |
| 86 | MP0003936_abnormal_reproductive_system | 0.49602642 |
| 87 | MP0005389_reproductive_system_phenotype | 0.49568919 |
| 88 | MP0000516_abnormal_urinary_system | 0.48987356 |
| 89 | MP0005367_renal/urinary_system_phenotyp | 0.48987356 |
| 90 | MP0005332_abnormal_amino_acid | 0.46793454 |
| 91 | MP0009046_muscle_twitch | 0.46791979 |
| 92 | MP0003195_calcinosis | 0.46650257 |
| 93 | MP0000955_abnormal_spinal_cord | 0.45558785 |
| 94 | MP0000613_abnormal_salivary_gland | 0.45062358 |
| 95 | MP0009780_abnormal_chondrocyte_physiolo | 0.44051671 |
| 96 | MP0003633_abnormal_nervous_system | 0.43675422 |
| 97 | MP0003631_nervous_system_phenotype | 0.42772645 |
| 98 | MP0001944_abnormal_pancreas_morphology | 0.42211496 |
| 99 | MP0005408_hypopigmentation | 0.41071439 |
| 100 | MP0004084_abnormal_cardiac_muscle | 0.40976916 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 7.56452366 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 5.13635488 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.13635488 |
| 4 | Tubulointerstitial nephritis (HP:0001970) | 4.75812990 |
| 5 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.65721652 |
| 6 | Resting tremor (HP:0002322) | 4.64893448 |
| 7 | Attenuation of retinal blood vessels (HP:0007843) | 4.59410623 |
| 8 | Asymmetric septal hypertrophy (HP:0001670) | 4.53717402 |
| 9 | Osteomalacia (HP:0002749) | 4.48660165 |
| 10 | Abnormal ciliary motility (HP:0012262) | 4.44819379 |
| 11 | Male infertility (HP:0003251) | 4.42348422 |
| 12 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.41113044 |
| 13 | Enlarged epiphyses (HP:0010580) | 4.27689131 |
| 14 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.27605284 |
| 15 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.23526586 |
| 16 | Infertility (HP:0000789) | 4.15606181 |
| 17 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.08079189 |
| 18 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.04677174 |
| 19 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.04677174 |
| 20 | Bell-shaped thorax (HP:0001591) | 3.91607893 |
| 21 | Abnormality of macular pigmentation (HP:0008002) | 3.91330391 |
| 22 | Hypoplastic ischia (HP:0003175) | 3.74262999 |
| 23 | Renal Fanconi syndrome (HP:0001994) | 3.70027820 |
| 24 | Chronic hepatic failure (HP:0100626) | 3.68368136 |
| 25 | Potter facies (HP:0002009) | 3.47838886 |
| 26 | Facial shape deformation (HP:0011334) | 3.47838886 |
| 27 | Hyperkalemia (HP:0002153) | 3.36583921 |
| 28 | Nasal polyposis (HP:0100582) | 3.30344536 |
| 29 | Abnormal spermatogenesis (HP:0008669) | 3.23895205 |
| 30 | Abnormality of the ischium (HP:0003174) | 3.23352673 |
| 31 | Cone-rod dystrophy (HP:0000548) | 3.21767527 |
| 32 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.12969785 |
| 33 | Azoospermia (HP:0000027) | 3.12082359 |
| 34 | Hypoplasia of the thymus (HP:0000778) | 3.00311835 |
| 35 | Nephronophthisis (HP:0000090) | 2.97944809 |
| 36 | Postural instability (HP:0002172) | 2.95499821 |
| 37 | Hypophosphatemic rickets (HP:0004912) | 2.87297162 |
| 38 | Abnormality of the costochondral junction (HP:0000919) | 2.82574800 |
| 39 | Rhinitis (HP:0012384) | 2.81919369 |
| 40 | Abnormality of the nasal mucosa (HP:0000433) | 2.76150795 |
| 41 | Atelectasis (HP:0100750) | 2.75577838 |
| 42 | Impulsivity (HP:0100710) | 2.73299355 |
| 43 | Portal hypertension (HP:0001409) | 2.64816162 |
| 44 | Rickets (HP:0002748) | 2.62380786 |
| 45 | Polydipsia (HP:0001959) | 2.62167743 |
| 46 | Abnormal drinking behavior (HP:0030082) | 2.62167743 |
| 47 | Abnormal urine output (HP:0012590) | 2.59490714 |
| 48 | Abnormality of renal resorption (HP:0011038) | 2.59338849 |
| 49 | Abnormality of potassium homeostasis (HP:0011042) | 2.45865167 |
| 50 | Abnormality of the hepatic vasculature (HP:0006707) | 2.45559243 |
| 51 | Stage 5 chronic kidney disease (HP:0003774) | 2.39454870 |
| 52 | Protuberant abdomen (HP:0001538) | 2.38589750 |
| 53 | Abnormality of the renal medulla (HP:0100957) | 2.36319377 |
| 54 | Tubulointerstitial abnormality (HP:0001969) | 2.35186784 |
| 55 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.35089127 |
| 56 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.33491899 |
| 57 | Abnormality of renal excretion (HP:0011036) | 2.31621046 |
| 58 | Amelogenesis imperfecta (HP:0000705) | 2.31239732 |
| 59 | Menstrual irregularities (HP:0000858) | 2.29781649 |
| 60 | Hyponatremia (HP:0002902) | 2.28490759 |
| 61 | Abnormality of dental color (HP:0011073) | 2.28073958 |
| 62 | Short ribs (HP:0000773) | 2.26427624 |
| 63 | Sensory axonal neuropathy (HP:0003390) | 2.19969777 |
| 64 | Unilateral renal agenesis (HP:0000122) | 2.19358451 |
| 65 | Polyuria (HP:0000103) | 2.16661107 |
| 66 | Generalized aminoaciduria (HP:0002909) | 2.16071094 |
| 67 | Decreased central vision (HP:0007663) | 2.15480228 |
| 68 | Congenital malformation of the right heart (HP:0011723) | 2.14144686 |
| 69 | Double outlet right ventricle (HP:0001719) | 2.14144686 |
| 70 | Progressive cerebellar ataxia (HP:0002073) | 2.13552721 |
| 71 | Median cleft lip (HP:0000161) | 2.13261880 |
| 72 | Bulbous nose (HP:0000414) | 2.10132244 |
| 73 | Widely patent fontanelles and sutures (HP:0004492) | 2.09830592 |
| 74 | Chronic bronchitis (HP:0004469) | 2.03303357 |
| 75 | Bronchiectasis (HP:0002110) | 2.00586060 |
| 76 | Hypoalphalipoproteinemia (HP:0003233) | 2.00350203 |
| 77 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 2.00061461 |
| 78 | Progressive sensorineural hearing impairment (HP:0000408) | 2.00025332 |
| 79 | Renal dysplasia (HP:0000110) | 1.97501137 |
| 80 | Buphthalmos (HP:0000557) | 1.92461348 |
| 81 | Truncal obesity (HP:0001956) | 1.91279139 |
| 82 | Hypokalemia (HP:0002900) | 1.90898876 |
| 83 | Neoplasm of the oral cavity (HP:0100649) | 1.88896682 |
| 84 | Scotoma (HP:0000575) | 1.83710273 |
| 85 | Abnormality of sodium homeostasis (HP:0010931) | 1.83502810 |
| 86 | Recurrent pneumonia (HP:0006532) | 1.82435466 |
| 87 | Glycosuria (HP:0003076) | 1.78818530 |
| 88 | Abnormality of urine glucose concentration (HP:0011016) | 1.78818530 |
| 89 | Mixed hearing impairment (HP:0000410) | 1.78326916 |
| 90 | Abnormality of lateral ventricle (HP:0030047) | 1.76689045 |
| 91 | Congenital sensorineural hearing impairment (HP:0008527) | 1.76164711 |
| 92 | Abnormality of dentin (HP:0010299) | 1.72598238 |
| 93 | Hyperphosphaturia (HP:0003109) | 1.71115686 |
| 94 | Gingivitis (HP:0000230) | 1.68079327 |
| 95 | Increased purine levels (HP:0004368) | 1.66642046 |
| 96 | Hyperuricemia (HP:0002149) | 1.66642046 |
| 97 | Photophobia (HP:0000613) | 1.65333824 |
| 98 | Metaphyseal dysplasia (HP:0100255) | 1.64454286 |
| 99 | Hyperthyroidism (HP:0000836) | 1.62113728 |
| 100 | Ventricular tachycardia (HP:0004756) | 1.61554050 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 7.86168288 |
| 2 | TESK1 | 5.52673563 |
| 3 | DDR2 | 4.76755862 |
| 4 | INSRR | 3.89978500 |
| 5 | STK38 | 3.37257088 |
| 6 | MAP4K2 | 3.01915305 |
| 7 | PLK2 | 2.97679897 |
| 8 | PNCK | 2.91453780 |
| 9 | STK38L | 2.54915930 |
| 10 | PINK1 | 2.26969344 |
| 11 | PIK3CG | 2.24395699 |
| 12 | BRD4 | 2.02614443 |
| 13 | MAPK15 | 1.98871629 |
| 14 | CAMK1G | 1.92515223 |
| 15 | PTK2B | 1.86260917 |
| 16 | MST1R | 1.63459359 |
| 17 | WNK1 | 1.59934139 |
| 18 | FRK | 1.43440526 |
| 19 | LATS1 | 1.38409809 |
| 20 | PDPK1 | 1.35823031 |
| 21 | PDK1 | 1.29804988 |
| 22 | MAP3K2 | 1.23344045 |
| 23 | PRKD3 | 1.17717896 |
| 24 | WNK4 | 1.15070705 |
| 25 | CDK7 | 1.08866707 |
| 26 | NEK6 | 1.05802717 |
| 27 | PRKG2 | 0.99021026 |
| 28 | MARK3 | 0.95003240 |
| 29 | STK39 | 0.91096675 |
| 30 | TLK1 | 0.90775220 |
| 31 | DYRK1B | 0.90430661 |
| 32 | TIE1 | 0.80633156 |
| 33 | RIPK4 | 0.80022531 |
| 34 | PRKG1 | 0.79957747 |
| 35 | TRIM28 | 0.77581886 |
| 36 | MAP3K11 | 0.74778184 |
| 37 | UHMK1 | 0.74213714 |
| 38 | CDK12 | 0.72826927 |
| 39 | RPS6KA2 | 0.71464514 |
| 40 | MYLK | 0.70557013 |
| 41 | CDK3 | 0.69202686 |
| 42 | AKT3 | 0.65392045 |
| 43 | RPS6KA1 | 0.64660821 |
| 44 | CAMK1 | 0.61893433 |
| 45 | NTRK3 | 0.60854625 |
| 46 | SGK223 | 0.58374037 |
| 47 | SGK494 | 0.58374037 |
| 48 | MAP2K2 | 0.55769043 |
| 49 | MET | 0.55019229 |
| 50 | BRSK2 | 0.50701254 |
| 51 | OXSR1 | 0.49947770 |
| 52 | CAMKK2 | 0.49556739 |
| 53 | RPS6KA6 | 0.49283249 |
| 54 | ROCK1 | 0.47620648 |
| 55 | RPS6KL1 | 0.44190362 |
| 56 | RPS6KC1 | 0.44190362 |
| 57 | CDK19 | 0.42635991 |
| 58 | PRKAA2 | 0.42618039 |
| 59 | TRPM7 | 0.41585036 |
| 60 | TNIK | 0.41223565 |
| 61 | CAMK4 | 0.39166764 |
| 62 | PRKCE | 0.38949868 |
| 63 | RPS6KA5 | 0.38498202 |
| 64 | SGK1 | 0.37381362 |
| 65 | CAMK1D | 0.37246585 |
| 66 | FER | 0.34992858 |
| 67 | MAP3K1 | 0.34606231 |
| 68 | NUAK1 | 0.34419927 |
| 69 | MAP3K12 | 0.34261212 |
| 70 | LATS2 | 0.33565218 |
| 71 | MUSK | 0.32835882 |
| 72 | MAP3K9 | 0.32589998 |
| 73 | BRAF | 0.32166784 |
| 74 | MAPK1 | 0.32008918 |
| 75 | BMPR1B | 0.31848663 |
| 76 | CDK2 | 0.29573146 |
| 77 | SGK2 | 0.29042779 |
| 78 | ZAK | 0.27047621 |
| 79 | GSK3B | 0.26864472 |
| 80 | PRKCG | 0.26779765 |
| 81 | IKBKB | 0.26332539 |
| 82 | YES1 | 0.25959796 |
| 83 | TESK2 | 0.25741607 |
| 84 | BRSK1 | 0.24882092 |
| 85 | PASK | 0.23265071 |
| 86 | PRKCB | 0.22342770 |
| 87 | PRKCZ | 0.22102100 |
| 88 | KIT | 0.21954761 |
| 89 | STK3 | 0.21418048 |
| 90 | CDK1 | 0.20712677 |
| 91 | CHEK1 | 0.19956709 |
| 92 | DYRK3 | 0.19687010 |
| 93 | DYRK2 | 0.19336394 |
| 94 | MAP3K4 | 0.19032168 |
| 95 | PRKCQ | 0.17705661 |
| 96 | JAK3 | 0.16802185 |
| 97 | KSR2 | 0.16223908 |
| 98 | PRKACA | 0.16125811 |
| 99 | TEC | 0.15003162 |
| 100 | NLK | 0.14932034 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 6.49680728 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 5.62675094 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.68226086 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.82340053 |
| 5 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 2.37646404 |
| 6 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 2.16828253 |
| 7 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 2.09535377 |
| 8 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.03696226 |
| 9 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.98423956 |
| 10 | Taste transduction_Homo sapiens_hsa04742 | 1.94327181 |
| 11 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.88715471 |
| 12 | RNA transport_Homo sapiens_hsa03013 | 1.60155211 |
| 13 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.59707176 |
| 14 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.57907638 |
| 15 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.56450881 |
| 16 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.53716856 |
| 17 | Allograft rejection_Homo sapiens_hsa05330 | 1.51457511 |
| 18 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.45166712 |
| 19 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.44302322 |
| 20 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.44088567 |
| 21 | ABC transporters_Homo sapiens_hsa02010 | 1.27949042 |
| 22 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.27344997 |
| 23 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.26575276 |
| 24 | Renin secretion_Homo sapiens_hsa04924 | 1.25936744 |
| 25 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.25433925 |
| 26 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.19748687 |
| 27 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.15701907 |
| 28 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.11394635 |
| 29 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.09546583 |
| 30 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.06710282 |
| 31 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.04860174 |
| 32 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.03276083 |
| 33 | Salivary secretion_Homo sapiens_hsa04970 | 1.00315673 |
| 34 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.96576203 |
| 35 | Endocytosis_Homo sapiens_hsa04144 | 0.91861306 |
| 36 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.91642343 |
| 37 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.86779589 |
| 38 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.86665377 |
| 39 | Phototransduction_Homo sapiens_hsa04744 | 0.86104512 |
| 40 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.81380584 |
| 41 | Basal transcription factors_Homo sapiens_hsa03022 | 0.81227304 |
| 42 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.81002081 |
| 43 | Morphine addiction_Homo sapiens_hsa05032 | 0.80575400 |
| 44 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.80005275 |
| 45 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.78924814 |
| 46 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.77071242 |
| 47 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.77019123 |
| 48 | Circadian entrainment_Homo sapiens_hsa04713 | 0.76385742 |
| 49 | Purine metabolism_Homo sapiens_hsa00230 | 0.72891781 |
| 50 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.68769411 |
| 51 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.67735770 |
| 52 | Long-term potentiation_Homo sapiens_hsa04720 | 0.67702729 |
| 53 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.66928153 |
| 54 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.66872399 |
| 55 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.66628560 |
| 56 | Viral myocarditis_Homo sapiens_hsa05416 | 0.66441887 |
| 57 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.63458026 |
| 58 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.63306264 |
| 59 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.60502750 |
| 60 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.60294232 |
| 61 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.59012775 |
| 62 | Retinol metabolism_Homo sapiens_hsa00830 | 0.57675253 |
| 63 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.57467272 |
| 64 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.56738337 |
| 65 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.56337735 |
| 66 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.56330258 |
| 67 | Influenza A_Homo sapiens_hsa05164 | 0.56077336 |
| 68 | Insulin secretion_Homo sapiens_hsa04911 | 0.55223917 |
| 69 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.54914732 |
| 70 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.51871504 |
| 71 | Gap junction_Homo sapiens_hsa04540 | 0.51702231 |
| 72 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.49940489 |
| 73 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.48296972 |
| 74 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.47756293 |
| 75 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.46575070 |
| 76 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.45575744 |
| 77 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.44287325 |
| 78 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.42467332 |
| 79 | Huntingtons disease_Homo sapiens_hsa05016 | 0.42370933 |
| 80 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.42296069 |
| 81 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.41084182 |
| 82 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.39890556 |
| 83 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.38493515 |
| 84 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.37971176 |
| 85 | Phagosome_Homo sapiens_hsa04145 | 0.37572948 |
| 86 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.35544775 |
| 87 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.34468309 |
| 88 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.33212093 |
| 89 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.33096619 |
| 90 | Mineral absorption_Homo sapiens_hsa04978 | 0.32868639 |
| 91 | Alcoholism_Homo sapiens_hsa05034 | 0.32182706 |
| 92 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.31910053 |
| 93 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.31611818 |
| 94 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.30873130 |
| 95 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.30752760 |
| 96 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.30717574 |
| 97 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.30566173 |
| 98 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.30096444 |
| 99 | Tight junction_Homo sapiens_hsa04530 | 0.29646917 |
| 100 | Platelet activation_Homo sapiens_hsa04611 | 0.28089237 |

