

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | male meiosis (GO:0007140) | 9.21317011 |
| 2 | synapsis (GO:0007129) | 6.64479241 |
| 3 | positive regulation of catecholamine secretion (GO:0033605) | 6.63555156 |
| 4 | binding of sperm to zona pellucida (GO:0007339) | 6.55342324 |
| 5 | chromosome organization involved in meiosis (GO:0070192) | 5.89204228 |
| 6 | meiotic nuclear division (GO:0007126) | 5.86106664 |
| 7 | piRNA metabolic process (GO:0034587) | 5.83214095 |
| 8 | synaptonemal complex assembly (GO:0007130) | 5.58905905 |
| 9 | male meiosis I (GO:0007141) | 5.57474949 |
| 10 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 5.57440597 |
| 11 | spermatid development (GO:0007286) | 5.50340523 |
| 12 | positive regulation of synaptic transmission, dopaminergic (GO:0032226) | 5.49020008 |
| 13 | acrosome reaction (GO:0007340) | 5.42429721 |
| 14 | meiosis I (GO:0007127) | 5.12908156 |
| 15 | synaptonemal complex organization (GO:0070193) | 5.10290627 |
| 16 | multicellular organism reproduction (GO:0032504) | 5.02756961 |
| 17 | sperm-egg recognition (GO:0035036) | 4.97935131 |
| 18 | DNA synthesis involved in DNA repair (GO:0000731) | 4.79547122 |
| 19 | DNA methylation involved in gamete generation (GO:0043046) | 4.55868088 |
| 20 | negative regulation of macroautophagy (GO:0016242) | 4.44239264 |
| 21 | DNA replication initiation (GO:0006270) | 4.31642577 |
| 22 | regulation of oxidative phosphorylation (GO:0002082) | 4.30957098 |
| 23 | cell-cell recognition (GO:0009988) | 4.28406749 |
| 24 | sperm motility (GO:0030317) | 4.28025662 |
| 25 | diterpenoid biosynthetic process (GO:0016102) | 4.22427855 |
| 26 | histone H3-K9 demethylation (GO:0033169) | 4.03291818 |
| 27 | regulation of oxidative stress-induced neuron death (GO:1903203) | 4.02568879 |
| 28 | histone exchange (GO:0043486) | 3.99178882 |
| 29 | ribosome assembly (GO:0042255) | 3.94979333 |
| 30 | meiotic cell cycle process (GO:1903046) | 3.81749869 |
| 31 | regulation of interleukin-5 production (GO:0032674) | 3.81056578 |
| 32 | motile cilium assembly (GO:0044458) | 3.79628118 |
| 33 | potassium ion export (GO:0071435) | 3.77520105 |
| 34 | response to acidic pH (GO:0010447) | 3.74373747 |
| 35 | TOR signaling (GO:0031929) | 3.74111501 |
| 36 | regulation of meiosis I (GO:0060631) | 3.74025558 |
| 37 | germ cell development (GO:0007281) | 3.68631847 |
| 38 | notochord development (GO:0030903) | 3.66997318 |
| 39 | polyamine biosynthetic process (GO:0006596) | 3.62885300 |
| 40 | proteasome assembly (GO:0043248) | 3.62769423 |
| 41 | tongue development (GO:0043586) | 3.60713240 |
| 42 | rRNA methylation (GO:0031167) | 3.59924418 |
| 43 | activation of protein kinase B activity (GO:0032148) | 3.59699001 |
| 44 | rRNA modification (GO:0000154) | 3.58480825 |
| 45 | single fertilization (GO:0007338) | 3.57243392 |
| 46 | terpenoid biosynthetic process (GO:0016114) | 3.55179208 |
| 47 | N-terminal protein amino acid acetylation (GO:0006474) | 3.49413768 |
| 48 | regulation of autophagic vacuole assembly (GO:2000785) | 3.48573764 |
| 49 | regulation of cellular respiration (GO:0043457) | 3.44718385 |
| 50 | fertilization (GO:0009566) | 3.31245296 |
| 51 | regulation of hydrogen peroxide-induced cell death (GO:1903205) | 3.28720842 |
| 52 | de novo posttranslational protein folding (GO:0051084) | 3.27934562 |
| 53 | de novo protein folding (GO:0006458) | 3.26034243 |
| 54 | reproduction (GO:0000003) | 3.20966138 |
| 55 | relaxation of smooth muscle (GO:0044557) | 3.20270459 |
| 56 | sister chromatid cohesion (GO:0007062) | 3.18888881 |
| 57 | negative regulation of hydrogen peroxide-induced cell death (GO:1903206) | 3.18251568 |
| 58 | organic cation transport (GO:0015695) | 3.12482619 |
| 59 | histone H3-K36 demethylation (GO:0070544) | 3.12299871 |
| 60 | mRNA cleavage (GO:0006379) | 3.12165937 |
| 61 | negative regulation of cardiac muscle cell apoptotic process (GO:0010667) | 3.12014592 |
| 62 | oocyte development (GO:0048599) | 3.06291520 |
| 63 | oogenesis (GO:0048477) | 3.03357374 |
| 64 | negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804) | 3.01590275 |
| 65 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 2.98669219 |
| 66 | poly(A)+ mRNA export from nucleus (GO:0016973) | 2.98301287 |
| 67 | female gamete generation (GO:0007292) | 2.97661690 |
| 68 | morphogenesis of embryonic epithelium (GO:0016331) | 2.97560710 |
| 69 | fusion of sperm to egg plasma membrane (GO:0007342) | 2.93915067 |
| 70 | centriole assembly (GO:0098534) | 2.92073365 |
| 71 | DNA double-strand break processing (GO:0000729) | 2.89123630 |
| 72 | regulation of cardioblast differentiation (GO:0051890) | 2.87835340 |
| 73 | male sex determination (GO:0030238) | 2.86879920 |
| 74 | regulation of vacuole organization (GO:0044088) | 2.86770070 |
| 75 | negative regulation of response to reactive oxygen species (GO:1901032) | 2.83633370 |
| 76 | epithelial cilium movement (GO:0003351) | 2.81862942 |
| 77 | Leydig cell differentiation (GO:0033327) | 2.78760411 |
| 78 | regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083) | 2.78554291 |
| 79 | ectoderm development (GO:0007398) | 2.74398353 |
| 80 | regulation of keratinocyte proliferation (GO:0010837) | 2.73243502 |
| 81 | keratinocyte development (GO:0003334) | 2.73235983 |
| 82 | genitalia morphogenesis (GO:0035112) | 2.71208603 |
| 83 | DNA replication-dependent nucleosome assembly (GO:0006335) | 2.66173816 |
| 84 | DNA replication-dependent nucleosome organization (GO:0034723) | 2.66173816 |
| 85 | protein-DNA complex disassembly (GO:0032986) | 2.61252826 |
| 86 | nucleosome disassembly (GO:0006337) | 2.61252826 |
| 87 | telomere maintenance (GO:0000723) | 2.61195499 |
| 88 | regulation of acrosome reaction (GO:0060046) | 2.56960928 |
| 89 | protein polymerization (GO:0051258) | 2.56781816 |
| 90 | chromosome organization (GO:0051276) | 2.56511341 |
| 91 | telomere organization (GO:0032200) | 2.56407474 |
| 92 | regulation of attachment of spindle microtubules to kinetochore (GO:0051988) | 2.55557698 |
| 93 | glycogen metabolic process (GO:0005977) | 2.54676773 |
| 94 | positive regulation of ubiquitin-protein transferase activity (GO:0051443) | 2.51234023 |
| 95 | hippo signaling (GO:0035329) | 2.51025014 |
| 96 | glucan metabolic process (GO:0044042) | 2.49817400 |
| 97 | cellular glucan metabolic process (GO:0006073) | 2.49817400 |
| 98 | cellular response to pH (GO:0071467) | 2.46512394 |
| 99 | negative regulation of retinoic acid receptor signaling pathway (GO:0048387) | 14.5074166 |
| 100 | regulation of retinoic acid receptor signaling pathway (GO:0048385) | 12.2590505 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 8.24829757 |
| 2 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 5.02524772 |
| 3 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 4.38546000 |
| 4 | IGF1R_20145208_ChIP-Seq_DFB_Human | 4.32707093 |
| 5 | E2F7_22180533_ChIP-Seq_HELA_Human | 3.74490607 |
| 6 | AR_21909140_ChIP-Seq_LNCAP_Human | 3.39486789 |
| 7 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 3.09057976 |
| 8 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 2.72316292 |
| 9 | NOTCH1_21737748_ChIP-Seq_TLL_Human | 2.60462597 |
| 10 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 2.57946445 |
| 11 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.47355904 |
| 12 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 2.29661777 |
| 13 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 2.27708254 |
| 14 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 2.26303718 |
| 15 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.16086317 |
| 16 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 2.14650198 |
| 17 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 2.03950850 |
| 18 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 2.01711207 |
| 19 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 1.86312828 |
| 20 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 1.82700476 |
| 21 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 1.77425760 |
| 22 | ZNF263_19887448_ChIP-Seq_K562_Human | 1.66963634 |
| 23 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 1.59832773 |
| 24 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.59585458 |
| 25 | GABP_19822575_ChIP-Seq_HepG2_Human | 1.58948992 |
| 26 | ELF5_23300383_ChIP-Seq_T47D_Human | 1.56243617 |
| 27 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.50196253 |
| 28 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 1.48968796 |
| 29 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.48326322 |
| 30 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 1.47833390 |
| 31 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.46869493 |
| 32 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.44920571 |
| 33 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.41522124 |
| 34 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.40916163 |
| 35 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 1.40191915 |
| 36 | ERA_21632823_ChIP-Seq_H3396_Human | 1.36150038 |
| 37 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.33790241 |
| 38 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.31537916 |
| 39 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.29981840 |
| 40 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.29833265 |
| 41 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.29264400 |
| 42 | PKCTHETA_26484144_Chip-Seq_BREAST_Human | 1.25661425 |
| 43 | LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.24613985 |
| 44 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.24428979 |
| 45 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.23347251 |
| 46 | TBL1_22424771_ChIP-Seq_293T_Human | 1.22763542 |
| 47 | KLF2_18264089_ChIP-ChIP_MESCs_Mouse | 1.20809938 |
| 48 | KLF5_18264089_ChIP-ChIP_MESCs_Mouse | 1.20809938 |
| 49 | KLF4_18264089_ChIP-ChIP_MESCs_Mouse | 1.20809938 |
| 50 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.20659603 |
| 51 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.19657130 |
| 52 | PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse | 1.16817854 |
| 53 | SMAD1_18555785_ChIP-Seq_MESCs_Mouse | 1.14267532 |
| 54 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.13071512 |
| 55 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.12667137 |
| 56 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 1.11844280 |
| 57 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 1.09937251 |
| 58 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.09787595 |
| 59 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.09221223 |
| 60 | KDM5A_27292631_Chip-Seq_BREAST_Human | 1.09037157 |
| 61 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.09027973 |
| 62 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.08496813 |
| 63 | SOX2_19030024_ChIP-ChIP_MESCs_Mouse | 1.07602860 |
| 64 | RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.07315196 |
| 65 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.07259194 |
| 66 | DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 1.06002460 |
| 67 | E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human | 1.04725626 |
| 68 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.04551086 |
| 69 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.04174671 |
| 70 | NFYB_21822215_ChIP-Seq_K562_Human | 1.03651141 |
| 71 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.03596284 |
| 72 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.02600961 |
| 73 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.00965294 |
| 74 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.00075778 |
| 75 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 0.98807743 |
| 76 | SREBP2_21459322_ChIP-Seq_LIVER_Mouse | 0.98668522 |
| 77 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 0.98298520 |
| 78 | CTCF_27219007_Chip-Seq_Bcells_Human | 0.98090687 |
| 79 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 0.97573951 |
| 80 | P300_27268052_Chip-Seq_Bcells_Human | 0.95080982 |
| 81 | ATF3_27146783_Chip-Seq_COLON_Human | 0.94974777 |
| 82 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 0.93691398 |
| 83 | KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.93303972 |
| 84 | TFAP2A_17053090_ChIP-ChIP_MCF-7_Human | 0.92572039 |
| 85 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 0.92300690 |
| 86 | BCOR_27268052_Chip-Seq_Bcells_Human | 0.90941985 |
| 87 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 0.89168558 |
| 88 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 0.89019276 |
| 89 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 0.86967957 |
| 90 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 0.86558375 |
| 91 | KLF4_18358816_ChIP-ChIP_MESCs_Mouse | 0.85674795 |
| 92 | VDR_23849224_ChIP-Seq_CD4+_Human | 0.84679708 |
| 93 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 0.84367699 |
| 94 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 0.84292319 |
| 95 | P68_20966046_ChIP-Seq_HELA_Human | 0.84277935 |
| 96 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 0.83386688 |
| 97 | FOXH1_21741376_ChIP-Seq_ESCs_Human | 0.82014594 |
| 98 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 0.82000466 |
| 99 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 0.80554834 |
| 100 | PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 0.80107106 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 5.35777036 |
| 2 | MP0003315_abnormal_perineum_morphology | 4.33659938 |
| 3 | MP0003693_abnormal_embryo_hatching | 3.61095185 |
| 4 | MP0008004_abnormal_stomach_pH | 3.46641946 |
| 5 | MP0002160_abnormal_reproductive_system | 3.36284474 |
| 6 | MP0008877_abnormal_DNA_methylation | 2.95876374 |
| 7 | MP0001929_abnormal_gametogenesis | 2.94610139 |
| 8 | MP0003718_maternal_effect | 2.88130541 |
| 9 | MP0002210_abnormal_sex_determination | 2.71963577 |
| 10 | MP0003698_abnormal_male_reproductive | 2.65909392 |
| 11 | MP0010234_abnormal_vibrissa_follicle | 2.64269325 |
| 12 | MP0002163_abnormal_gland_morphology | 2.41679606 |
| 13 | MP0002796_impaired_skin_barrier | 2.16999366 |
| 14 | MP0004381_abnormal_hair_follicle | 2.15609312 |
| 15 | MP0005360_urolithiasis | 2.13557355 |
| 16 | MP0002132_abnormal_respiratory_system | 2.13305525 |
| 17 | MP0000569_abnormal_digit_pigmentation | 2.11934113 |
| 18 | MP0003806_abnormal_nucleotide_metabolis | 2.06185629 |
| 19 | MP0008058_abnormal_DNA_repair | 2.06051069 |
| 20 | MP0000537_abnormal_urethra_morphology | 1.99756540 |
| 21 | MP0001145_abnormal_male_reproductive | 1.96847100 |
| 22 | MP0000653_abnormal_sex_gland | 1.95500563 |
| 23 | MP0003077_abnormal_cell_cycle | 1.95459036 |
| 24 | MP0005379_endocrine/exocrine_gland_phen | 1.95378303 |
| 25 | MP0001849_ear_inflammation | 1.85015943 |
| 26 | MP0010094_abnormal_chromosome_stability | 1.84652941 |
| 27 | MP0004957_abnormal_blastocyst_morpholog | 1.84063157 |
| 28 | MP0001348_abnormal_lacrimal_gland | 1.83717585 |
| 29 | MP0001188_hyperpigmentation | 1.64649357 |
| 30 | MP0002161_abnormal_fertility/fecundity | 1.64457628 |
| 31 | MP0004264_abnormal_extraembryonic_tissu | 1.62900345 |
| 32 | MP0005499_abnormal_olfactory_system | 1.62873494 |
| 33 | MP0005394_taste/olfaction_phenotype | 1.62873494 |
| 34 | MP0010678_abnormal_skin_adnexa | 1.59677952 |
| 35 | MP0003136_yellow_coat_color | 1.59156686 |
| 36 | MP0003936_abnormal_reproductive_system | 1.49957886 |
| 37 | MP0005389_reproductive_system_phenotype | 1.49724306 |
| 38 | MP0008995_early_reproductive_senescence | 1.44359434 |
| 39 | MP0005647_abnormal_sex_gland | 1.41682739 |
| 40 | MP0010368_abnormal_lymphatic_system | 1.40010095 |
| 41 | MP0001664_abnormal_digestion | 1.39060112 |
| 42 | MP0005058_abnormal_lysosome_morphology | 1.37048611 |
| 43 | MP0002233_abnormal_nose_morphology | 1.33111133 |
| 44 | MP0005501_abnormal_skin_physiology | 1.32047630 |
| 45 | MP0000762_abnormal_tongue_morphology | 1.29448281 |
| 46 | MP0002138_abnormal_hepatobiliary_system | 1.28307814 |
| 47 | MP0004272_abnormal_basement_membrane | 1.28272874 |
| 48 | MP0002254_reproductive_system_inflammat | 1.27685870 |
| 49 | MP0003111_abnormal_nucleus_morphology | 1.27574400 |
| 50 | MP0009697_abnormal_copulation | 1.26259869 |
| 51 | MP0000678_abnormal_parathyroid_gland | 1.26187276 |
| 52 | MP0005395_other_phenotype | 1.26108198 |
| 53 | MP0003045_fibrosis | 1.25893771 |
| 54 | MP0001984_abnormal_olfaction | 1.18894514 |
| 55 | MP0006036_abnormal_mitochondrial_physio | 1.18877088 |
| 56 | MP0001730_embryonic_growth_arrest | 1.17754991 |
| 57 | MP0010030_abnormal_orbit_morphology | 1.16882049 |
| 58 | MP0005187_abnormal_penis_morphology | 1.11220133 |
| 59 | MP0000627_abnormal_mammary_gland | 1.10126752 |
| 60 | MP0005171_absent_coat_pigmentation | 1.09335896 |
| 61 | MP0003699_abnormal_female_reproductive | 1.07600039 |
| 62 | MP0000462_abnormal_digestive_system | 1.05519432 |
| 63 | MP0002089_abnormal_postnatal_growth/wei | 1.04966505 |
| 64 | MP0006035_abnormal_mitochondrial_morpho | 1.01026612 |
| 65 | MP0000470_abnormal_stomach_morphology | 0.96990822 |
| 66 | MP0008789_abnormal_olfactory_epithelium | 0.96852643 |
| 67 | MP0003941_abnormal_skin_development | 0.95197975 |
| 68 | MP0003385_abnormal_body_wall | 0.94439923 |
| 69 | MP0000647_abnormal_sebaceous_gland | 0.94195654 |
| 70 | MP0005174_abnormal_tail_pigmentation | 0.92867517 |
| 71 | MP0008932_abnormal_embryonic_tissue | 0.91515207 |
| 72 | MP0001672_abnormal_embryogenesis/_devel | 0.91327130 |
| 73 | MP0005380_embryogenesis_phenotype | 0.91327130 |
| 74 | MP0005646_abnormal_pituitary_gland | 0.88151293 |
| 75 | MP0002127_abnormal_cardiovascular_syste | 0.87778220 |
| 76 | MP0003786_premature_aging | 0.87087778 |
| 77 | MP0001119_abnormal_female_reproductive | 0.86460883 |
| 78 | MP0000477_abnormal_intestine_morphology | 0.85691720 |
| 79 | MP0000015_abnormal_ear_pigmentation | 0.83542473 |
| 80 | MP0003453_abnormal_keratinocyte_physiol | 0.83382331 |
| 81 | MP0005409_darkened_coat_color | 0.81129248 |
| 82 | MP0003646_muscle_fatigue | 0.80563105 |
| 83 | MP0001905_abnormal_dopamine_level | 0.79990787 |
| 84 | MP0006138_congestive_heart_failure | 0.79436828 |
| 85 | MP0005248_abnormal_Harderian_gland | 0.78443814 |
| 86 | MP0008260_abnormal_autophagy | 0.78203542 |
| 87 | MP0001697_abnormal_embryo_size | 0.78076654 |
| 88 | MP0000579_abnormal_nail_morphology | 0.78056766 |
| 89 | MP0010771_integument_phenotype | 0.75374641 |
| 90 | MP0000566_synostosis | 0.72244541 |
| 91 | MP0002080_prenatal_lethality | 0.71250978 |
| 92 | MP0000538_abnormal_urinary_bladder | 0.70015848 |
| 93 | MP0001216_abnormal_epidermal_layer | 0.69658078 |
| 94 | MP0005330_cardiomyopathy | 0.69197971 |
| 95 | MP0002086_abnormal_extraembryonic_tissu | 0.69104930 |
| 96 | MP0000490_abnormal_crypts_of | 0.67167224 |
| 97 | MP0001986_abnormal_taste_sensitivity | 0.67109842 |
| 98 | MP0000631_abnormal_neuroendocrine_gland | 0.62429484 |
| 99 | MP0002084_abnormal_developmental_patter | 0.61725795 |
| 100 | MP0003984_embryonic_growth_retardation | 0.60867383 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Hypoplasia of the uterus (HP:0000013) | 6.58766508 |
| 2 | Aplasia/hypoplasia of the uterus (HP:0008684) | 5.48976884 |
| 3 | Facial hemangioma (HP:0000329) | 5.17243635 |
| 4 | Thoracolumbar scoliosis (HP:0002944) | 4.40697742 |
| 5 | Resting tremor (HP:0002322) | 4.21712594 |
| 6 | Reduced antithrombin III activity (HP:0001976) | 4.21611697 |
| 7 | Lip pit (HP:0100267) | 4.21064082 |
| 8 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 3.91567526 |
| 9 | Absent epiphyses (HP:0010577) | 3.91567526 |
| 10 | Abnormal tarsal ossification (HP:0008369) | 3.90993752 |
| 11 | Pili torti (HP:0003777) | 3.87785492 |
| 12 | Hypoplastic ischia (HP:0003175) | 3.74574496 |
| 13 | Thoracic kyphosis (HP:0002942) | 3.56280018 |
| 14 | Abnormal sex determination (HP:0012244) | 3.44867975 |
| 15 | Sex reversal (HP:0012245) | 3.44867975 |
| 16 | Capillary hemangiomas (HP:0005306) | 3.41941948 |
| 17 | Abnormality of the columella (HP:0009929) | 3.39993739 |
| 18 | Abnormality of the ischium (HP:0003174) | 3.24411062 |
| 19 | Vitreoretinal degeneration (HP:0000655) | 3.20278326 |
| 20 | Flattened epiphyses (HP:0003071) | 3.11226075 |
| 21 | Abnormality of the lumbar spine (HP:0100712) | 3.07454476 |
| 22 | Epiphyseal dysplasia (HP:0002656) | 3.06922796 |
| 23 | Hypotrichosis (HP:0001006) | 3.05883134 |
| 24 | Gonadotropin excess (HP:0000837) | 3.02357921 |
| 25 | Hypoplastic pelvis (HP:0008839) | 2.97478316 |
| 26 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.88501970 |
| 27 | High anterior hairline (HP:0009890) | 2.79346404 |
| 28 | Germ cell neoplasia (HP:0100728) | 2.78388464 |
| 29 | Aplasia cutis congenita (HP:0001057) | 2.77611001 |
| 30 | Gonadal dysgenesis (HP:0000133) | 2.75060094 |
| 31 | Flat acetabular roof (HP:0003180) | 2.74377421 |
| 32 | Urinary urgency (HP:0000012) | 2.60796704 |
| 33 | Abnormality of cochlea (HP:0000375) | 2.59445476 |
| 34 | Infertility (HP:0000789) | 2.57827387 |
| 35 | Vertebral clefting (HP:0008428) | 2.54676833 |
| 36 | Abnormal foot bone ossification (HP:0010675) | 2.54454353 |
| 37 | Abnormality of the thoracic spine (HP:0100711) | 2.53907152 |
| 38 | Aplasia/Hypoplasia involving the carpal bones (HP:0006502) | 2.53484755 |
| 39 | Abnormal spermatogenesis (HP:0008669) | 2.51925851 |
| 40 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 2.51790741 |
| 41 | Azoospermia (HP:0000027) | 2.48718458 |
| 42 | Absent thumb (HP:0009777) | 2.48659380 |
| 43 | Male infertility (HP:0003251) | 2.47826116 |
| 44 | Proximal placement of thumb (HP:0009623) | 2.47496591 |
| 45 | Abnormal pancreas size (HP:0012094) | 2.43425053 |
| 46 | Self-mutilation (HP:0000742) | 2.42203202 |
| 47 | Abnormality of the proximal phalanges of the hand (HP:0009834) | 2.40208786 |
| 48 | Deviation of the thumb (HP:0009603) | 2.38285645 |
| 49 | Glossoptosis (HP:0000162) | 2.37844417 |
| 50 | Male pseudohermaphroditism (HP:0000037) | 2.35087070 |
| 51 | Carpal bone hypoplasia (HP:0001498) | 2.34405974 |
| 52 | Onycholysis (HP:0001806) | 2.34119224 |
| 53 | Morphological abnormality of the inner ear (HP:0011390) | 2.33665444 |
| 54 | Absent radius (HP:0003974) | 2.32668826 |
| 55 | Metaphyseal cupping (HP:0003021) | 2.29290286 |
| 56 | Abnormality of the phalanges of the 2nd finger (HP:0009541) | 2.26682525 |
| 57 | Protuberant abdomen (HP:0001538) | 2.24715610 |
| 58 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 2.22638896 |
| 59 | Abnormal protein N-linked glycosylation (HP:0012347) | 2.22638896 |
| 60 | Abnormal protein glycosylation (HP:0012346) | 2.22638896 |
| 61 | Abnormal glycosylation (HP:0012345) | 2.22638896 |
| 62 | Postural instability (HP:0002172) | 2.18186051 |
| 63 | Aplasia involving forearm bones (HP:0009822) | 2.16452221 |
| 64 | Absent forearm bone (HP:0003953) | 2.16452221 |
| 65 | Hip contracture (HP:0003273) | 2.15391602 |
| 66 | Short thumb (HP:0009778) | 2.14792725 |
| 67 | Cervical subluxation (HP:0003308) | 2.13514456 |
| 68 | Ureteral duplication (HP:0000073) | 2.13060531 |
| 69 | Abnormal respiratory motile cilium physiology (HP:0012261) | 2.12080606 |
| 70 | Cerebral hypomyelination (HP:0006808) | 2.12048579 |
| 71 | Squamous cell carcinoma (HP:0002860) | 2.11212339 |
| 72 | Posterior subcapsular cataract (HP:0007787) | 2.08372915 |
| 73 | Abnormality of the intrinsic pathway (HP:0010989) | 2.03895364 |
| 74 | Mixed hearing impairment (HP:0000410) | 2.03230993 |
| 75 | Aplasia/Hypoplasia involving the musculature (HP:0001460) | 2.01915541 |
| 76 | Ileus (HP:0002595) | 2.01552734 |
| 77 | Flat capital femoral epiphysis (HP:0003370) | 2.01490032 |
| 78 | Chromsome breakage (HP:0040012) | 2.01115925 |
| 79 | Cerebellar dysplasia (HP:0007033) | 1.96914200 |
| 80 | Abnormality of the salivary glands (HP:0010286) | 1.92649509 |
| 81 | Delayed epiphyseal ossification (HP:0002663) | 1.92128584 |
| 82 | Unsteady gait (HP:0002317) | 1.91322367 |
| 83 | Irregular epiphyses (HP:0010582) | 1.88590994 |
| 84 | Abnormal ciliary motility (HP:0012262) | 1.88169795 |
| 85 | Abnormality of the preputium (HP:0100587) | 1.83151235 |
| 86 | Abnormality of the ileum (HP:0001549) | 1.80317972 |
| 87 | Abnormal hair laboratory examination (HP:0003328) | 1.78983774 |
| 88 | Neonatal short-limb short stature (HP:0008921) | 1.78459591 |
| 89 | Abnormality of DNA repair (HP:0003254) | 1.77050545 |
| 90 | Difficulty climbing stairs (HP:0003551) | 1.75523529 |
| 91 | Aplasia/Hypoplasia of the ulna (HP:0006495) | 1.74737132 |
| 92 | Palpitations (HP:0001962) | 1.74310157 |
| 93 | Slow-growing hair (HP:0002217) | 1.73153224 |
| 94 | Abnormality of hair growth rate (HP:0011363) | 1.73153224 |
| 95 | Chronic bronchitis (HP:0004469) | 1.71506726 |
| 96 | Premature ovarian failure (HP:0008209) | 1.69475135 |
| 97 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 1.68992396 |
| 98 | Sensory axonal neuropathy (HP:0003390) | 1.68589811 |
| 99 | Brittle hair (HP:0002299) | 1.68393283 |
| 100 | Type II lissencephaly (HP:0007260) | 1.66920514 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | LATS1 | 7.01403928 |
| 2 | PINK1 | 5.90765915 |
| 3 | MST4 | 4.55334439 |
| 4 | MARK3 | 3.81960671 |
| 5 | MST1R | 3.44066686 |
| 6 | STK38L | 2.86331533 |
| 7 | ZAK | 2.72423915 |
| 8 | TLK1 | 2.54513704 |
| 9 | NME2 | 2.26530704 |
| 10 | NUAK1 | 2.26137924 |
| 11 | PLK4 | 2.18861671 |
| 12 | MET | 2.12008862 |
| 13 | MYLK | 2.10516907 |
| 14 | BUB1 | 2.08174397 |
| 15 | LATS2 | 1.96631536 |
| 16 | EPHA2 | 1.94896524 |
| 17 | NEK2 | 1.91281497 |
| 18 | LMTK2 | 1.90787074 |
| 19 | MAP3K9 | 1.87134951 |
| 20 | DDR2 | 1.69332117 |
| 21 | MAPK15 | 1.68115745 |
| 22 | STK3 | 1.58830363 |
| 23 | PBK | 1.34346740 |
| 24 | RPS6KA5 | 1.28428007 |
| 25 | CSNK1A1L | 1.25704575 |
| 26 | PNCK | 1.23468467 |
| 27 | EIF2AK3 | 1.20342194 |
| 28 | CSNK1G3 | 1.18228488 |
| 29 | RPS6KA4 | 1.12408770 |
| 30 | VRK1 | 1.11234541 |
| 31 | SRPK1 | 1.08488110 |
| 32 | STK38 | 1.07539599 |
| 33 | ARAF | 1.05018686 |
| 34 | STK24 | 0.96722658 |
| 35 | WEE1 | 0.89813710 |
| 36 | CDK3 | 0.89162182 |
| 37 | CSNK1G1 | 0.87579900 |
| 38 | FGR | 0.83902520 |
| 39 | PLK1 | 0.83184877 |
| 40 | MAP3K13 | 0.77760753 |
| 41 | CSNK1G2 | 0.75035928 |
| 42 | PTK2B | 0.69652708 |
| 43 | ILK | 0.66987993 |
| 44 | PRKCI | 0.64841672 |
| 45 | STK10 | 0.64213471 |
| 46 | TESK2 | 0.64136674 |
| 47 | PLK2 | 0.62807974 |
| 48 | PKN2 | 0.61499338 |
| 49 | BRSK1 | 0.56276315 |
| 50 | STK16 | 0.54628754 |
| 51 | AURKB | 0.54075718 |
| 52 | MAP2K7 | 0.50120153 |
| 53 | MAP3K8 | 0.50028918 |
| 54 | AKT2 | 0.47838505 |
| 55 | PRKG2 | 0.43467731 |
| 56 | TRPM7 | 0.43149868 |
| 57 | AURKA | 0.42997541 |
| 58 | KDR | 0.42217994 |
| 59 | MTOR | 0.42110842 |
| 60 | MELK | 0.40863504 |
| 61 | ROCK1 | 0.40030308 |
| 62 | PLK3 | 0.40023962 |
| 63 | NEK6 | 0.39993474 |
| 64 | PAK1 | 0.39736046 |
| 65 | BMX | 0.39044260 |
| 66 | NME1 | 0.38124076 |
| 67 | NEK1 | 0.38103041 |
| 68 | CDK12 | 0.35617363 |
| 69 | PDGFRB | 0.34948527 |
| 70 | PRKCQ | 0.34227680 |
| 71 | PDK2 | 0.33845446 |
| 72 | PTK2 | 0.33595920 |
| 73 | WNK4 | 0.33441690 |
| 74 | CDK14 | 0.33216118 |
| 75 | DYRK3 | 0.32636714 |
| 76 | CHEK1 | 0.32469166 |
| 77 | CDC42BPA | 0.32300966 |
| 78 | MAP3K1 | 0.30832719 |
| 79 | VRK2 | 0.30057848 |
| 80 | RPS6KB2 | 0.29663371 |
| 81 | TSSK6 | 0.29371875 |
| 82 | CDC7 | 0.28335617 |
| 83 | EGFR | 0.28223259 |
| 84 | PKN1 | 0.27665440 |
| 85 | ATM | 0.26857177 |
| 86 | PAK4 | 0.25104295 |
| 87 | CSNK1E | 0.23638425 |
| 88 | OXSR1 | 0.22620014 |
| 89 | MOS | 0.22400476 |
| 90 | WNK1 | 0.21821616 |
| 91 | RET | 0.20709861 |
| 92 | CDK7 | 0.20313248 |
| 93 | CSNK2A1 | 0.20158379 |
| 94 | CDK9 | 0.18798724 |
| 95 | ATR | 0.17899355 |
| 96 | DAPK3 | 0.17432174 |
| 97 | CSNK1A1 | 0.16787590 |
| 98 | TRIM28 | 0.15952636 |
| 99 | MAP3K10 | 0.15554491 |
| 100 | TESK1 | 0.15308326 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 5.98820627 |
| 2 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 4.55956615 |
| 3 | Gap junction_Homo sapiens_hsa04540 | 3.05033822 |
| 4 | Basal transcription factors_Homo sapiens_hsa03022 | 2.91746920 |
| 5 | Proteasome_Homo sapiens_hsa03050 | 2.89509850 |
| 6 | DNA replication_Homo sapiens_hsa03030 | 2.66930527 |
| 7 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 2.55693516 |
| 8 | Oocyte meiosis_Homo sapiens_hsa04114 | 2.45107293 |
| 9 | RNA transport_Homo sapiens_hsa03013 | 2.41864529 |
| 10 | Cell cycle_Homo sapiens_hsa04110 | 2.13231588 |
| 11 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 2.12582574 |
| 12 | Apoptosis_Homo sapiens_hsa04210 | 2.09861019 |
| 13 | Olfactory transduction_Homo sapiens_hsa04740 | 1.99470365 |
| 14 | RNA polymerase_Homo sapiens_hsa03020 | 1.96870512 |
| 15 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.96532740 |
| 16 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.96347525 |
| 17 | Homologous recombination_Homo sapiens_hsa03440 | 1.94460565 |
| 18 | Alcoholism_Homo sapiens_hsa05034 | 1.84658022 |
| 19 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.83776676 |
| 20 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.77057187 |
| 21 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.57809000 |
| 22 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 1.56566378 |
| 23 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.52475464 |
| 24 | Mismatch repair_Homo sapiens_hsa03430 | 1.52383407 |
| 25 | Phototransduction_Homo sapiens_hsa04744 | 1.50667240 |
| 26 | RNA degradation_Homo sapiens_hsa03018 | 1.44368332 |
| 27 | Sulfur relay system_Homo sapiens_hsa04122 | 1.44334606 |
| 28 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.43112430 |
| 29 | Phagosome_Homo sapiens_hsa04145 | 1.19412380 |
| 30 | Spliceosome_Homo sapiens_hsa03040 | 1.17999465 |
| 31 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 1.14514614 |
| 32 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.10394767 |
| 33 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.10154219 |
| 34 | Purine metabolism_Homo sapiens_hsa00230 | 1.07903779 |
| 35 | Asthma_Homo sapiens_hsa05310 | 1.03292743 |
| 36 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 1.02951912 |
| 37 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.97122657 |
| 38 | Base excision repair_Homo sapiens_hsa03410 | 0.94765533 |
| 39 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.93319683 |
| 40 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.92781359 |
| 41 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.90149078 |
| 42 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.84739301 |
| 43 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.84538841 |
| 44 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.83928222 |
| 45 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.82499357 |
| 46 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.81977724 |
| 47 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.80410312 |
| 48 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.80103045 |
| 49 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.79702025 |
| 50 | Tight junction_Homo sapiens_hsa04530 | 0.77696378 |
| 51 | Taste transduction_Homo sapiens_hsa04742 | 0.74886244 |
| 52 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.74826007 |
| 53 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.69579361 |
| 54 | Prostate cancer_Homo sapiens_hsa05215 | 0.68802415 |
| 55 | Parkinsons disease_Homo sapiens_hsa05012 | 0.68391043 |
| 56 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.68299657 |
| 57 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.65968890 |
| 58 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.64896163 |
| 59 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.64807587 |
| 60 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.64511689 |
| 61 | Ribosome_Homo sapiens_hsa03010 | 0.62524270 |
| 62 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.57786045 |
| 63 | Small cell lung cancer_Homo sapiens_hsa05222 | 0.57356218 |
| 64 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.57198405 |
| 65 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.55923881 |
| 66 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.55667357 |
| 67 | Lysine degradation_Homo sapiens_hsa00310 | 0.55472034 |
| 68 | Huntingtons disease_Homo sapiens_hsa05016 | 0.54960852 |
| 69 | Thyroid cancer_Homo sapiens_hsa05216 | 0.53193317 |
| 70 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.52112775 |
| 71 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.52045204 |
| 72 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.51549830 |
| 73 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.50790730 |
| 74 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.46465603 |
| 75 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.46460293 |
| 76 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.45727738 |
| 77 | Focal adhesion_Homo sapiens_hsa04510 | 0.43924758 |
| 78 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.43840775 |
| 79 | Adherens junction_Homo sapiens_hsa04520 | 0.43111790 |
| 80 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.42926964 |
| 81 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.41417249 |
| 82 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.35858952 |
| 83 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.32022477 |
| 84 | Metabolic pathways_Homo sapiens_hsa01100 | 0.30885281 |
| 85 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.29876244 |
| 86 | T cell receptor signaling pathway_Homo sapiens_hsa04660 | 0.29779913 |
| 87 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.28370072 |
| 88 | Legionellosis_Homo sapiens_hsa05134 | 0.25354977 |
| 89 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.22998008 |
| 90 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.22808242 |
| 91 | Melanogenesis_Homo sapiens_hsa04916 | 0.20943919 |
| 92 | HTLV-I infection_Homo sapiens_hsa05166 | 0.20666902 |
| 93 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.19982181 |
| 94 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.18265921 |
| 95 | Carbon metabolism_Homo sapiens_hsa01200 | 0.17947011 |
| 96 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.17929386 |
| 97 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.14453023 |
| 98 | Glioma_Homo sapiens_hsa05214 | 0.14438032 |
| 99 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.14091740 |
| 100 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.13805442 |

