

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | cilium or flagellum-dependent cell motility (GO:0001539) | 8.49736574 |
| 2 | chromosome organization involved in meiosis (GO:0070192) | 8.36708026 |
| 3 | regulation of meiosis I (GO:0060631) | 8.06055523 |
| 4 | fusion of sperm to egg plasma membrane (GO:0007342) | 7.80480444 |
| 5 | * meiotic nuclear division (GO:0007126) | 7.71498918 |
| 6 | sperm-egg recognition (GO:0035036) | 6.51069621 |
| 7 | * male meiosis I (GO:0007141) | 6.41216002 |
| 8 | binding of sperm to zona pellucida (GO:0007339) | 6.39698242 |
| 9 | * sperm motility (GO:0030317) | 6.16064739 |
| 10 | spermatid development (GO:0007286) | 6.15857142 |
| 11 | histone H3-K9 demethylation (GO:0033169) | 6.09836789 |
| 12 | gene silencing by RNA (GO:0031047) | 6.09101397 |
| 13 | acrosome assembly (GO:0001675) | 5.86763831 |
| 14 | cell-cell recognition (GO:0009988) | 5.82989423 |
| 15 | axonemal dynein complex assembly (GO:0070286) | 5.82727213 |
| 16 | plasma membrane fusion (GO:0045026) | 5.82725393 |
| 17 | multicellular organism reproduction (GO:0032504) | 5.79911770 |
| 18 | meiotic chromosome segregation (GO:0045132) | 5.40005169 |
| 19 | * meiotic cell cycle process (GO:1903046) | 5.38438918 |
| 20 | epithelial cilium movement (GO:0003351) | 5.36375002 |
| 21 | * meiosis I (GO:0007127) | 5.31755050 |
| 22 | DNA alkylation (GO:0006305) | 5.28457819 |
| 23 | DNA methylation (GO:0006306) | 5.28457819 |
| 24 | nuclear pore complex assembly (GO:0051292) | 5.12274308 |
| 25 | germ cell development (GO:0007281) | 4.89748984 |
| 26 | acrosome reaction (GO:0007340) | 4.87596104 |
| 27 | reciprocal DNA recombination (GO:0035825) | 4.83458943 |
| 28 | reciprocal meiotic recombination (GO:0007131) | 4.83458943 |
| 29 | meiotic cell cycle (GO:0051321) | 4.82653082 |
| 30 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 4.81224546 |
| 31 | regulation of meiotic cell cycle (GO:0051445) | 4.80169103 |
| 32 | nuclear pore organization (GO:0006999) | 4.75327020 |
| 33 | motile cilium assembly (GO:0044458) | 4.73534701 |
| 34 | reproduction (GO:0000003) | 4.63168821 |
| 35 | * spermatogenesis (GO:0007283) | 4.62760598 |
| 36 | * male gamete generation (GO:0048232) | 4.62260812 |
| 37 | cilium movement (GO:0003341) | 4.59396890 |
| 38 | positive regulation of meiosis (GO:0045836) | 4.53168030 |
| 39 | oogenesis (GO:0048477) | 4.47597822 |
| 40 | fertilization (GO:0009566) | 4.45686021 |
| 41 | synapsis (GO:0007129) | 4.44986719 |
| 42 | sister chromatid cohesion (GO:0007062) | 4.44325024 |
| 43 | cell wall macromolecule catabolic process (GO:0016998) | 4.36150122 |
| 44 | cell wall macromolecule metabolic process (GO:0044036) | 4.36150122 |
| 45 | microtubule depolymerization (GO:0007019) | 4.36008917 |
| 46 | gene silencing (GO:0016458) | 4.30370268 |
| 47 | * gamete generation (GO:0007276) | 4.30159147 |
| 48 | positive regulation of meiotic cell cycle (GO:0051446) | 4.26493195 |
| 49 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.25793978 |
| 50 | resolution of meiotic recombination intermediates (GO:0000712) | 4.21416691 |
| 51 | regulation of cilium movement (GO:0003352) | 4.18391531 |
| 52 | DNA methylation or demethylation (GO:0044728) | 4.09081744 |
| 53 | positive regulation of translational initiation (GO:0045948) | 4.09042971 |
| 54 | DNA synthesis involved in DNA repair (GO:0000731) | 4.06267253 |
| 55 | single fertilization (GO:0007338) | 4.00206094 |
| 56 | monoubiquitinated protein deubiquitination (GO:0035520) | 3.97007802 |
| 57 | histone H3-K36 demethylation (GO:0070544) | 3.94039089 |
| 58 | heterochromatin organization (GO:0070828) | 3.92349460 |
| 59 | negative regulation of meiosis (GO:0045835) | 3.90321163 |
| 60 | pore complex assembly (GO:0046931) | 3.84753639 |
| 61 | centriole assembly (GO:0098534) | 3.74808717 |
| 62 | regulation of centriole replication (GO:0046599) | 3.73396288 |
| 63 | negative regulation of gene silencing (GO:0060969) | 3.68873748 |
| 64 | DNA replication-dependent nucleosome organization (GO:0034723) | 3.68275356 |
| 65 | DNA replication-dependent nucleosome assembly (GO:0006335) | 3.68275356 |
| 66 | attachment of spindle microtubules to kinetochore (GO:0008608) | 3.67528498 |
| 67 | protein localization to chromosome (GO:0034502) | 3.65774540 |
| 68 | histone exchange (GO:0043486) | 3.64891681 |
| 69 | oocyte development (GO:0048599) | 3.54245797 |
| 70 | mitotic sister chromatid cohesion (GO:0007064) | 3.51885950 |
| 71 | sex differentiation (GO:0007548) | 3.49860973 |
| 72 | regulation of histone H3-K9 methylation (GO:0051570) | 3.47437566 |
| 73 | female gamete generation (GO:0007292) | 3.45926156 |
| 74 | DNA packaging (GO:0006323) | 3.43983278 |
| 75 | regulation of DNA endoreduplication (GO:0032875) | 3.43950214 |
| 76 | DNA modification (GO:0006304) | 3.43391832 |
| 77 | genitalia morphogenesis (GO:0035112) | 3.39855504 |
| 78 | oocyte maturation (GO:0001556) | 3.39121888 |
| 79 | negative regulation of inclusion body assembly (GO:0090084) | 3.37185559 |
| 80 | * multicellular organismal reproductive process (GO:0048609) | 3.31994726 |
| 81 | chromosome organization (GO:0051276) | 3.26879684 |
| 82 | DNA biosynthetic process (GO:0071897) | 3.25668747 |
| 83 | gonadal mesoderm development (GO:0007506) | 3.21690037 |
| 84 | seminiferous tubule development (GO:0072520) | 3.19905619 |
| 85 | histone lysine demethylation (GO:0070076) | 3.19084698 |
| 86 | mitotic chromosome condensation (GO:0007076) | 3.18918244 |
| 87 | translesion synthesis (GO:0019985) | 3.15794332 |
| 88 | ventricular system development (GO:0021591) | 3.14165080 |
| 89 | sperm capacitation (GO:0048240) | 3.12330621 |
| 90 | regulation of protein polyubiquitination (GO:1902914) | 3.11920076 |
| 91 | chromosome condensation (GO:0030261) | 3.10517984 |
| 92 | protein K6-linked ubiquitination (GO:0085020) | 3.08827498 |
| 93 | nucleus organization (GO:0006997) | 3.08049195 |
| 94 | histone demethylation (GO:0016577) | 3.07338263 |
| 95 | proteasome assembly (GO:0043248) | 3.07265793 |
| 96 | regulation of meiosis (GO:0040020) | 3.06616436 |
| 97 | chromatin remodeling at centromere (GO:0031055) | 3.01792665 |
| 98 | embryonic body morphogenesis (GO:0010172) | 3.00761804 |
| 99 | * nuclear division (GO:0000280) | 2.99106474 |
| 100 | chaperone-mediated protein complex assembly (GO:0051131) | 2.98262762 |
| 101 | histone H2A acetylation (GO:0043968) | 2.98167889 |
| 102 | regulation of chromosome segregation (GO:0051983) | 2.96646041 |
| 103 | negative regulation of DNA repair (GO:0045738) | 2.93741333 |
| 104 | kinetochore organization (GO:0051383) | 2.92339850 |
| 105 | intra-S DNA damage checkpoint (GO:0031573) | 2.90301828 |
| 106 | negative regulation of meiotic cell cycle (GO:0051447) | 2.88076818 |
| 107 | protein targeting to Golgi (GO:0000042) | 2.86828037 |
| 108 | interkinetic nuclear migration (GO:0022027) | 2.86689055 |
| 109 | mitotic metaphase plate congression (GO:0007080) | 2.86283906 |
| 110 | negative regulation of organelle assembly (GO:1902116) | 2.85822298 |
| 111 | reproductive system development (GO:0061458) | 2.84892122 |
| 112 | protein dealkylation (GO:0008214) | 2.82598777 |
| 113 | protein demethylation (GO:0006482) | 2.82598777 |
| 114 | regulation of spindle checkpoint (GO:0090231) | 2.81264480 |
| 115 | single strand break repair (GO:0000012) | 2.79675676 |
| 116 | spermatid nucleus differentiation (GO:0007289) | 2.77511273 |
| 117 | centriole replication (GO:0007099) | 2.76841696 |
| 118 | * organelle fission (GO:0048285) | 2.76753336 |
| 119 | establishment of protein localization to Golgi (GO:0072600) | 2.72680381 |
| 120 | mitotic spindle assembly checkpoint (GO:0007094) | 2.68471635 |
| 121 | negative regulation of histone methylation (GO:0031061) | 2.66810626 |
| 122 | regulation of female gonad development (GO:2000194) | 2.64372779 |
| 123 | CENP-A containing nucleosome assembly (GO:0034080) | 2.63854480 |
| 124 | spindle assembly checkpoint (GO:0071173) | 2.62503080 |
| 125 | piRNA metabolic process (GO:0034587) | 15.3002220 |
| 126 | synaptonemal complex assembly (GO:0007130) | 11.8676161 |
| 127 | synaptonemal complex organization (GO:0070193) | 11.5953559 |
| 128 | DNA methylation involved in gamete generation (GO:0043046) | 11.5515513 |
| 129 | male meiosis (GO:0007140) | 10.9135824 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | E2F7_22180533_ChIP-Seq_HELA_Human | 6.38158305 |
| 2 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 3.65334345 |
| 3 | IGF1R_20145208_ChIP-Seq_DFB_Human | 3.36497543 |
| 4 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 3.06793954 |
| 5 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 2.89373344 |
| 6 | * CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 2.86304808 |
| 7 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 2.74518310 |
| 8 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 2.71765068 |
| 9 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 2.39147008 |
| 10 | KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 2.33920933 |
| 11 | AR_21909140_ChIP-Seq_LNCAP_Human | 2.23680560 |
| 12 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 2.08132122 |
| 13 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 2.06345922 |
| 14 | * MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.05537602 |
| 15 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.02141288 |
| 16 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 10.9376364 |
| 17 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.97631626 |
| 18 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.90219128 |
| 19 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.80789674 |
| 20 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.75281387 |
| 21 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 1.74883891 |
| 22 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.70865724 |
| 23 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.70526784 |
| 24 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.68886157 |
| 25 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.63563647 |
| 26 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.62736221 |
| 27 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 1.61363918 |
| 28 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.60448750 |
| 29 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.60028765 |
| 30 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.59916268 |
| 31 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.57448766 |
| 32 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.56768058 |
| 33 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.53450689 |
| 34 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.52033309 |
| 35 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.52033309 |
| 36 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.51454778 |
| 37 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.48680559 |
| 38 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.47944414 |
| 39 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.46662547 |
| 40 | AR_25329375_ChIP-Seq_VCAP_Human | 1.45803075 |
| 41 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.45436878 |
| 42 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.43827433 |
| 43 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 1.43734799 |
| 44 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 1.43098150 |
| 45 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.42892380 |
| 46 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.42892380 |
| 47 | VDR_22108803_ChIP-Seq_LS180_Human | 1.41586825 |
| 48 | RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 1.40263240 |
| 49 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.39517117 |
| 50 | STAT3_23295773_ChIP-Seq_U87_Human | 1.38234683 |
| 51 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.38103555 |
| 52 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 1.38038421 |
| 53 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.36993190 |
| 54 | PRDM5_23873026_ChIP-Seq_MEFs_Mouse | 1.36899138 |
| 55 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.36158907 |
| 56 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 1.35618749 |
| 57 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.34136035 |
| 58 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.33439781 |
| 59 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.32553962 |
| 60 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.31310260 |
| 61 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.30975936 |
| 62 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.30685606 |
| 63 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.29276086 |
| 64 | TCF4_23295773_ChIP-Seq_U87_Human | 1.29231837 |
| 65 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.27462161 |
| 66 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 1.25957088 |
| 67 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 1.25238307 |
| 68 | * ERA_21632823_ChIP-Seq_H3396_Human | 1.25082337 |
| 69 | VDR_23849224_ChIP-Seq_CD4+_Human | 1.24037181 |
| 70 | PADI4_21655091_ChIP-ChIP_MCF-7_Human | 1.23069770 |
| 71 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 1.22450328 |
| 72 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 1.22441483 |
| 73 | * ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.21522761 |
| 74 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.21140345 |
| 75 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.17053800 |
| 76 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.16368388 |
| 77 | XRN2_22483619_ChIP-Seq_HELA_Human | 1.14989960 |
| 78 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.14651318 |
| 79 | P300_19829295_ChIP-Seq_ESCs_Human | 1.14614452 |
| 80 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.13796936 |
| 81 | GABP_19822575_ChIP-Seq_HepG2_Human | 1.13664888 |
| 82 | EWS_26573619_Chip-Seq_HEK293_Human | 1.13258384 |
| 83 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.12650878 |
| 84 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.12650878 |
| 85 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.11338497 |
| 86 | * GATA3_26560356_Chip-Seq_TH1_Human | 1.11221986 |
| 87 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.11073458 |
| 88 | PKCTHETA_26484144_Chip-Seq_BREAST_Human | 1.11060743 |
| 89 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 1.10983431 |
| 90 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.09682116 |
| 91 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.08672664 |
| 92 | GATA3_21867929_ChIP-Seq_TH1_Mouse | 1.08665294 |
| 93 | KDM5A_27292631_Chip-Seq_BREAST_Human | 1.08107192 |
| 94 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.06886705 |
| 95 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 1.06460915 |
| 96 | KLF4_18555785_ChIP-Seq_MESCs_Mouse | 1.05472570 |
| 97 | ASXL1_24218140_ChIP-Seq_BMDM_Mouse | 1.05124302 |
| 98 | CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat | 1.05005493 |
| 99 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 1.04914603 |
| 100 | FOXP3_21729870_ChIP-Seq_TREG_Human | 1.04577034 |
| 101 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 1.03981438 |
| 102 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.03844767 |
| 103 | TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.03258637 |
| 104 | E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human | 1.02903876 |
| 105 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 1.02031632 |
| 106 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.00946307 |
| 107 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.00256069 |
| 108 | SMAD4_21799915_ChIP-Seq_A2780_Human | 0.99900141 |
| 109 | HTT_18923047_ChIP-ChIP_STHdh_Human | 0.98106700 |
| 110 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 0.98079904 |
| 111 | ETV1_20927104_ChIP-Seq_GIST48_Human | 0.97945940 |
| 112 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 0.97340094 |
| 113 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 0.97276537 |
| 114 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 0.96823816 |
| 115 | * YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 0.96209310 |
| 116 | SIN3A_21632747_ChIP-Seq_MESCs_Mouse | 0.96045972 |
| 117 | NANOG_19829295_ChIP-Seq_ESCs_Human | 0.95131497 |
| 118 | SOX2_19829295_ChIP-Seq_ESCs_Human | 0.95131497 |
| 119 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 0.94013263 |
| 120 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 0.93924762 |
| 121 | RAC3_21632823_ChIP-Seq_H3396_Human | 0.93780782 |
| 122 | * MYC_19829295_ChIP-Seq_ESCs_Human | 0.93776456 |
| 123 | HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse | 0.93650197 |
| 124 | STAT1_17558387_ChIP-Seq_HELA_Human | 0.93642477 |
| 125 | KLF2_18264089_ChIP-ChIP_MESCs_Mouse | 0.93455843 |
| 126 | KLF5_18264089_ChIP-ChIP_MESCs_Mouse | 0.93455843 |
| 127 | KLF4_18264089_ChIP-ChIP_MESCs_Mouse | 0.93455843 |
| 128 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 0.93210194 |
| 129 | FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 0.90334108 |
| 130 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 0.89167019 |
| 131 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 0.88368245 |
| 132 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 0.87562604 |
| 133 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 0.85347792 |
| 134 | OCT4_20526341_ChIP-Seq_ESCs_Human | 0.84736010 |
| 135 | TTF2_22483619_ChIP-Seq_HELA_Human | 0.84495477 |
| 136 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 0.84123275 |
| 137 | ERG_20517297_ChIP-Seq_VCAP_Human | 0.84085835 |
| 138 | LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse | 0.83541924 |
| 139 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 0.82887821 |
| 140 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 0.82398456 |
| 141 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 0.80545413 |
| 142 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 0.79990931 |
| 143 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 0.77704394 |
| 144 | GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse | 0.77252857 |
| 145 | FUS_26573619_Chip-Seq_HEK293_Human | 0.77160755 |
| 146 | RCOR2_21632747_ChIP-Seq_MESCs_Mouse | 0.77059909 |
| 147 | TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse | 0.75996138 |
| 148 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 0.75774073 |
| 149 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 0.75647250 |
| 150 | CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 0.75597685 |
| 151 | FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 0.74128805 |
| 152 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 0.73595155 |
| 153 | P53_21459846_ChIP-Seq_SAOS-2_Human | 0.73453281 |
| 154 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 0.72841957 |
| 155 | * SOX2_21211035_ChIP-Seq_LN229_Human | 0.72539530 |
| 156 | CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse | 0.72403503 |
| 157 | * SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.68699779 |
| 158 | DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 0.68408600 |
| 159 | MYC_18940864_ChIP-ChIP_HL60_Human | 0.67559343 |
| 160 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.66794182 |
| 161 | ZNF274_21170338_ChIP-Seq_K562_Hela | 0.66640472 |
| 162 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 0.66555818 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0008877_abnormal_DNA_methylation | 9.70297216 |
| 2 | MP0005410_abnormal_fertilization | 7.62273437 |
| 3 | * MP0001929_abnormal_gametogenesis | 5.08959801 |
| 4 | MP0008995_early_reproductive_senescence | 4.87958463 |
| 5 | * MP0002210_abnormal_sex_determination | 4.83251050 |
| 6 | * MP0003698_abnormal_male_reproductive | 4.69763406 |
| 7 | * MP0001145_abnormal_male_reproductive | 3.92773921 |
| 8 | MP0008057_abnormal_DNA_replication | 3.75851416 |
| 9 | MP0010094_abnormal_chromosome_stability | 3.67527585 |
| 10 | * MP0000653_abnormal_sex_gland | 3.50673289 |
| 11 | MP0008058_abnormal_DNA_repair | 3.45111525 |
| 12 | MP0003786_premature_aging | 3.43745127 |
| 13 | * MP0002161_abnormal_fertility/fecundity | 2.68208438 |
| 14 | MP0003111_abnormal_nucleus_morphology | 2.56175409 |
| 15 | MP0000678_abnormal_parathyroid_gland | 2.40716780 |
| 16 | MP0003077_abnormal_cell_cycle | 2.19283845 |
| 17 | MP0008007_abnormal_cellular_replicative | 2.16474811 |
| 18 | MP0008789_abnormal_olfactory_epithelium | 2.07499513 |
| 19 | MP0003123_paternal_imprinting | 2.06721031 |
| 20 | MP0003693_abnormal_embryo_hatching | 2.05541618 |
| 21 | MP0004957_abnormal_blastocyst_morpholog | 1.98305223 |
| 22 | MP0010368_abnormal_lymphatic_system | 1.96637936 |
| 23 | MP0002160_abnormal_reproductive_system | 1.92763272 |
| 24 | MP0006292_abnormal_olfactory_placode | 1.79202691 |
| 25 | MP0002653_abnormal_ependyma_morphology | 1.62083405 |
| 26 | MP0001119_abnormal_female_reproductive | 1.49047927 |
| 27 | MP0005499_abnormal_olfactory_system | 1.45939294 |
| 28 | MP0005394_taste/olfaction_phenotype | 1.45939294 |
| 29 | MP0001730_embryonic_growth_arrest | 1.45509336 |
| 30 | MP0003183_abnormal_peptide_metabolism | 1.42678940 |
| 31 | MP0004808_abnormal_hematopoietic_stem | 1.38719267 |
| 32 | MP0008004_abnormal_stomach_pH | 1.33149976 |
| 33 | MP0010030_abnormal_orbit_morphology | 1.32974538 |
| 34 | MP0010307_abnormal_tumor_latency | 1.26850567 |
| 35 | MP0003878_abnormal_ear_physiology | 1.25896302 |
| 36 | MP0005377_hearing/vestibular/ear_phenot | 1.25896302 |
| 37 | MP0008932_abnormal_embryonic_tissue | 1.25476174 |
| 38 | MP0005623_abnormal_meninges_morphology | 1.20342357 |
| 39 | MP0003699_abnormal_female_reproductive | 1.14087476 |
| 40 | MP0005647_abnormal_sex_gland | 1.13289095 |
| 41 | MP0000350_abnormal_cell_proliferation | 1.09088992 |
| 42 | MP0003890_abnormal_embryonic-extraembry | 1.08237049 |
| 43 | MP0005389_reproductive_system_phenotype | 1.07628292 |
| 44 | MP0003121_genomic_imprinting | 1.00166321 |
| 45 | MP0010352_gastrointestinal_tract_polyps | 0.95455124 |
| 46 | MP0002139_abnormal_hepatobiliary_system | 0.93519216 |
| 47 | MP0001697_abnormal_embryo_size | 0.88841536 |
| 48 | MP0005174_abnormal_tail_pigmentation | 0.85800454 |
| 49 | MP0003646_muscle_fatigue | 0.85125328 |
| 50 | MP0005380_embryogenesis_phenotype | 0.84419721 |
| 51 | MP0001672_abnormal_embryogenesis/_devel | 0.84419721 |
| 52 | MP0000383_abnormal_hair_follicle | 0.83615606 |
| 53 | MP0002084_abnormal_developmental_patter | 0.83000366 |
| 54 | * MP0000313_abnormal_cell_death | 0.80633259 |
| 55 | MP0001188_hyperpigmentation | 0.80409753 |
| 56 | MP0004197_abnormal_fetal_growth/weight/ | 0.78858697 |
| 57 | MP0003787_abnormal_imprinting | 0.78534278 |
| 58 | MP0002085_abnormal_embryonic_tissue | 0.77857123 |
| 59 | MP0001984_abnormal_olfaction | 0.76392390 |
| 60 | MP0000015_abnormal_ear_pigmentation | 0.76382641 |
| 61 | MP0003879_abnormal_hair_cell | 0.74437389 |
| 62 | MP0002249_abnormal_larynx_morphology | 0.73997960 |
| 63 | MP0002019_abnormal_tumor_incidence | 0.73276363 |
| 64 | MP0003984_embryonic_growth_retardation | 0.72262345 |
| 65 | MP0002080_prenatal_lethality | 0.71205603 |
| 66 | MP0008260_abnormal_autophagy | 0.70115283 |
| 67 | MP0002234_abnormal_pharynx_morphology | 0.67604427 |
| 68 | MP0002088_abnormal_embryonic_growth/wei | 0.66508909 |
| 69 | MP0010678_abnormal_skin_adnexa | 0.63883372 |
| 70 | MP0009672_abnormal_birth_weight | 0.62956224 |
| 71 | MP0002095_abnormal_skin_pigmentation | 0.62379619 |
| 72 | MP0001293_anophthalmia | 0.62081006 |
| 73 | MP0005397_hematopoietic_system_phenotyp | 0.61754106 |
| 74 | MP0001545_abnormal_hematopoietic_system | 0.61754106 |
| 75 | MP0000569_abnormal_digit_pigmentation | 0.61252682 |
| 76 | MP0004233_abnormal_muscle_weight | 0.60896678 |
| 77 | MP0000631_abnormal_neuroendocrine_gland | 0.60886351 |
| 78 | MP0005670_abnormal_white_adipose | 0.59659436 |
| 79 | MP0002233_abnormal_nose_morphology | 0.58398936 |
| 80 | MP0003718_maternal_effect | 0.57858721 |
| 81 | MP0005551_abnormal_eye_electrophysiolog | 0.56979336 |
| 82 | MP0002282_abnormal_trachea_morphology | 0.56666344 |
| 83 | MP0005076_abnormal_cell_differentiation | 0.56393296 |
| 84 | MP0003936_abnormal_reproductive_system | 0.56351995 |
| 85 | MP0003950_abnormal_plasma_membrane | 0.55515576 |
| 86 | MP0003115_abnormal_respiratory_system | 0.55422457 |
| 87 | MP0003315_abnormal_perineum_morphology | 0.53122337 |
| 88 | MP0000427_abnormal_hair_cycle | 0.52546034 |
| 89 | MP0002086_abnormal_extraembryonic_tissu | 0.52456541 |
| 90 | MP0000358_abnormal_cell_content/ | 0.52325753 |
| 91 | MP0005423_abnormal_somatic_nervous | 0.51911678 |
| 92 | MP0006035_abnormal_mitochondrial_morpho | 0.51209367 |
| 93 | MP0002735_abnormal_chemical_nociception | 0.50615111 |
| 94 | MP0001486_abnormal_startle_reflex | 0.50602250 |
| 95 | MP0001879_abnormal_lymphatic_vessel | 0.49687314 |
| 96 | MP0005310_abnormal_salivary_gland | 0.48872343 |
| 97 | MP0000049_abnormal_middle_ear | 0.48020406 |
| 98 | MP0000778_abnormal_nervous_system | 0.47989708 |
| 99 | MP0001963_abnormal_hearing_physiology | 0.47379056 |
| 100 | MP0002396_abnormal_hematopoietic_system | 0.45419366 |
| 101 | MP0001666_abnormal_nutrient_absorption | 0.45364278 |
| 102 | MP0009703_decreased_birth_body | 0.42937507 |
| 103 | MP0003935_abnormal_craniofacial_develop | 0.41422624 |
| 104 | MP0002067_abnormal_sensory_capabilities | 0.39986276 |
| 105 | MP0002127_abnormal_cardiovascular_syste | 0.39499241 |
| 106 | MP0000566_synostosis | 0.39218267 |
| 107 | MP0004215_abnormal_myocardial_fiber | 0.38183338 |
| 108 | MP0004019_abnormal_vitamin_homeostasis | 0.38164805 |
| 109 | MP0009278_abnormal_bone_marrow | 0.37929711 |
| 110 | MP0001502_abnormal_circadian_rhythm | 0.37138666 |
| 111 | MP0001915_intracranial_hemorrhage | 0.36823890 |
| 112 | MP0002269_muscular_atrophy | 0.36631876 |
| 113 | MP0005384_cellular_phenotype | 0.36334670 |
| 114 | MP0002116_abnormal_craniofacial_bone | 0.36095011 |
| 115 | MP0003861_abnormal_nervous_system | 0.35856821 |
| 116 | MP0000537_abnormal_urethra_morphology | 0.34522519 |
| 117 | MP0006036_abnormal_mitochondrial_physio | 0.34163779 |
| 118 | MP0002092_abnormal_eye_morphology | 0.33079153 |
| 119 | MP0005621_abnormal_cell_physiology | 0.32734136 |
| 120 | MP0001727_abnormal_embryo_implantation | 0.32377395 |
| 121 | MP0000703_abnormal_thymus_morphology | 0.31421876 |
| 122 | MP0005391_vision/eye_phenotype | 0.28714453 |
| 123 | MP0001661_extended_life_span | 0.28622592 |
| 124 | MP0003119_abnormal_digestive_system | 0.27708332 |
| 125 | MP0005666_abnormal_adipose_tissue | 0.27358995 |
| 126 | MP0003941_abnormal_skin_development | 0.27174325 |
| 127 | MP0009697_abnormal_copulation | 0.26245182 |
| 128 | MP0004134_abnormal_chest_morphology | 0.26132249 |
| 129 | MP0003937_abnormal_limbs/digits/tail_de | 0.24953974 |
| 130 | MP0001919_abnormal_reproductive_system | 0.24682615 |
| 131 | MP0002970_abnormal_white_adipose | 0.21461837 |
| 132 | MP0005266_abnormal_metabolism | 0.20638436 |
| 133 | MP0006072_abnormal_retinal_apoptosis | 0.20572193 |
| 134 | MP0003943_abnormal_hepatobiliary_system | 0.20482416 |
| 135 | MP0003221_abnormal_cardiomyocyte_apopto | 0.19939830 |
| 136 | MP0002009_preneoplasia | 0.18319362 |
| 137 | MP0000432_abnormal_head_morphology | 0.17135966 |
| 138 | MP0003567_abnormal_fetal_cardiomyocyte | 0.16870912 |
| 139 | MP0002114_abnormal_axial_skeleton | 0.16728532 |
| 140 | MP0005395_other_phenotype | 0.16381029 |
| 141 | MP0004036_abnormal_muscle_relaxation | 0.16160572 |
| 142 | MP0005253_abnormal_eye_physiology | 0.16106646 |
| 143 | MP0002697_abnormal_eye_size | 0.15782682 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 9.62847500 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 9.04558197 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 9.04558197 |
| 4 | Azoospermia (HP:0000027) | 7.28673588 |
| 5 | Abnormal spermatogenesis (HP:0008669) | 7.09990098 |
| 6 | Abnormal respiratory motile cilium physiology (HP:0012261) | 6.56625252 |
| 7 | Abnormal respiratory epithelium morphology (HP:0012253) | 6.25726904 |
| 8 | Abnormal respiratory motile cilium morphology (HP:0005938) | 6.25726904 |
| 9 | Abnormality of the lower motor neuron (HP:0002366) | 6.01731447 |
| 10 | Rhinitis (HP:0012384) | 5.84910260 |
| 11 | Gonadotropin excess (HP:0000837) | 5.46049442 |
| 12 | Chronic bronchitis (HP:0004469) | 5.23118786 |
| 13 | Oligodactyly (hands) (HP:0001180) | 5.16169076 |
| 14 | Abnormal ciliary motility (HP:0012262) | 5.13420699 |
| 15 | Infertility (HP:0000789) | 5.11757276 |
| 16 | Volvulus (HP:0002580) | 5.11100696 |
| 17 | Nasal polyposis (HP:0100582) | 4.52153229 |
| 18 | Degeneration of the lateral corticospinal tracts (HP:0002314) | 4.46049979 |
| 19 | Atrophy/Degeneration involving the corticospinal tracts (HP:0007372) | 4.46049979 |
| 20 | Amyotrophic lateral sclerosis (HP:0007354) | 4.05643622 |
| 21 | Osteomalacia (HP:0002749) | 3.88243534 |
| 22 | Nephronophthisis (HP:0000090) | 3.85461984 |
| 23 | Abnormality of the nasal mucosa (HP:0000433) | 3.63485028 |
| 24 | Bronchiectasis (HP:0002110) | 3.55180792 |
| 25 | Abnormality of the corticospinal tract (HP:0002492) | 3.49509920 |
| 26 | 11 pairs of ribs (HP:0000878) | 3.48972931 |
| 27 | Upper motor neuron abnormality (HP:0002127) | 3.47128353 |
| 28 | Male infertility (HP:0003251) | 3.46788142 |
| 29 | Bronchitis (HP:0012387) | 3.44834395 |
| 30 | Horizontal nystagmus (HP:0000666) | 3.34554724 |
| 31 | Fibular hypoplasia (HP:0003038) | 3.29131657 |
| 32 | Impulsivity (HP:0100710) | 3.26712836 |
| 33 | Abnormality of the anterior horn cell (HP:0006802) | 3.14724137 |
| 34 | Degeneration of anterior horn cells (HP:0002398) | 3.14724137 |
| 35 | Rimmed vacuoles (HP:0003805) | 3.11916113 |
| 36 | Scotoma (HP:0000575) | 3.07670162 |
| 37 | Supernumerary spleens (HP:0009799) | 2.96236866 |
| 38 | Chromsome breakage (HP:0040012) | 2.92335426 |
| 39 | Abnormality of the renal medulla (HP:0100957) | 2.84995271 |
| 40 | Tubulointerstitial nephritis (HP:0001970) | 2.83431098 |
| 41 | Impaired vibration sensation in the lower limbs (HP:0002166) | 2.70722516 |
| 42 | Capillary hemangiomas (HP:0005306) | 2.69599862 |
| 43 | Lip pit (HP:0100267) | 2.69327989 |
| 44 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 2.69064620 |
| 45 | Selective tooth agenesis (HP:0001592) | 2.68218281 |
| 46 | Abnormality of DNA repair (HP:0003254) | 2.65824519 |
| 47 | Resting tremor (HP:0002322) | 2.64331776 |
| 48 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 2.64296197 |
| 49 | Severe visual impairment (HP:0001141) | 2.62264526 |
| 50 | Abnormality of chromosome segregation (HP:0002916) | 2.42670399 |
| 51 | Facial cleft (HP:0002006) | 2.41919871 |
| 52 | Atrophy/Degeneration involving motor neurons (HP:0007373) | 2.39166552 |
| 53 | Ectopic kidney (HP:0000086) | 2.33452894 |
| 54 | Abnormality of chromosome stability (HP:0003220) | 2.30244776 |
| 55 | Recurrent otitis media (HP:0000403) | 2.28500361 |
| 56 | Recurrent sinusitis (HP:0011108) | 2.28222409 |
| 57 | Wrist flexion contracture (HP:0001239) | 2.27829900 |
| 58 | Molar tooth sign on MRI (HP:0002419) | 2.27428152 |
| 59 | Abnormality of midbrain morphology (HP:0002418) | 2.27428152 |
| 60 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.27278507 |
| 61 | Recurrent bronchitis (HP:0002837) | 2.25978134 |
| 62 | Papillary thyroid carcinoma (HP:0002895) | 2.24926055 |
| 63 | Menstrual irregularities (HP:0000858) | 2.23516990 |
| 64 | Abnormality of the duodenum (HP:0002246) | 2.22369803 |
| 65 | Tubular atrophy (HP:0000092) | 2.21459712 |
| 66 | Heterotopia (HP:0002282) | 2.20378111 |
| 67 | Premature ovarian failure (HP:0008209) | 2.18918137 |
| 68 | Abdominal situs inversus (HP:0003363) | 2.18874079 |
| 69 | Abnormality of abdominal situs (HP:0011620) | 2.18874079 |
| 70 | Aplasia/Hypoplasia of the fibula (HP:0006492) | 2.13103599 |
| 71 | Spontaneous abortion (HP:0005268) | 2.12145252 |
| 72 | Shoulder girdle muscle weakness (HP:0003547) | 2.11962516 |
| 73 | Broad distal phalanx of finger (HP:0009836) | 2.10833981 |
| 74 | Impaired proprioception (HP:0010831) | 2.09143719 |
| 75 | Postaxial foot polydactyly (HP:0001830) | 2.07883827 |
| 76 | Short ribs (HP:0000773) | 2.06093429 |
| 77 | Hyperpituitarism (HP:0010514) | 2.05844406 |
| 78 | Anterior segment dysgenesis (HP:0007700) | 2.05406095 |
| 79 | Hyperkalemia (HP:0002153) | 2.04762980 |
| 80 | Aplasia/Hypoplasia of the sternum (HP:0006714) | 2.04634238 |
| 81 | Tubulointerstitial abnormality (HP:0001969) | 2.04407893 |
| 82 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 2.03742371 |
| 83 | Nephroblastoma (Wilms tumor) (HP:0002667) | 2.03293910 |
| 84 | Meckel diverticulum (HP:0002245) | 2.02286770 |
| 85 | Bundle branch block (HP:0011710) | 2.01206571 |
| 86 | Microglossia (HP:0000171) | 1.97926138 |
| 87 | Breast carcinoma (HP:0003002) | 1.97525654 |
| 88 | Facial hemangioma (HP:0000329) | 1.95900675 |
| 89 | Non-midline cleft lip (HP:0100335) | 1.94949880 |
| 90 | Median cleft lip (HP:0000161) | 1.94389127 |
| 91 | Abnormality of the renal collecting system (HP:0004742) | 1.93355148 |
| 92 | Missing ribs (HP:0000921) | 1.92510133 |
| 93 | Medial flaring of the eyebrow (HP:0010747) | 1.89780804 |
| 94 | Abnormality of the preputium (HP:0100587) | 1.89606332 |
| 95 | Sloping forehead (HP:0000340) | 1.88799367 |
| 96 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.88528058 |
| 97 | Abnormality of the ileum (HP:0001549) | 1.88386461 |
| 98 | Absent thumb (HP:0009777) | 1.88020757 |
| 99 | Absent radius (HP:0003974) | 1.87445877 |
| 100 | Fair hair (HP:0002286) | 1.86109286 |
| 101 | Embryonal renal neoplasm (HP:0011794) | 1.85304624 |
| 102 | Bell-shaped thorax (HP:0001591) | 1.83028701 |
| 103 | Carpal bone hypoplasia (HP:0001498) | 1.82990658 |
| 104 | Stage 5 chronic kidney disease (HP:0003774) | 1.80481372 |
| 105 | Medulloblastoma (HP:0002885) | 1.79525614 |
| 106 | Hypergonadotropic hypogonadism (HP:0000815) | 1.78507437 |
| 107 | Abnormality of the phalanges of the hallux (HP:0010057) | 1.78072783 |
| 108 | Duplicated collecting system (HP:0000081) | 1.77362610 |
| 109 | Bony spicule pigmentary retinopathy (HP:0007737) | 1.76613939 |
| 110 | Small intestinal stenosis (HP:0012848) | 1.75686252 |
| 111 | Duodenal stenosis (HP:0100867) | 1.75686252 |
| 112 | Impaired vibratory sensation (HP:0002495) | 1.74701848 |
| 113 | Hand muscle atrophy (HP:0009130) | 1.73648507 |
| 114 | Absent forearm bone (HP:0003953) | 1.73425528 |
| 115 | Aplasia involving forearm bones (HP:0009822) | 1.73425528 |
| 116 | Oculomotor apraxia (HP:0000657) | 1.72773018 |
| 117 | Enlarged penis (HP:0000040) | 1.71187407 |
| 118 | Multicystic kidney dysplasia (HP:0000003) | 1.70230882 |
| 119 | Cone-shaped epiphyses of the phalanges of the hand (HP:0010230) | 1.68144979 |
| 120 | Short tibia (HP:0005736) | 1.67790574 |
| 121 | Abnormality of the labia (HP:0000058) | 1.66654398 |
| 122 | Abnormality of lateral ventricle (HP:0030047) | 1.66296233 |
| 123 | Peripheral hypomyelination (HP:0007182) | 1.66065487 |
| 124 | Ependymoma (HP:0002888) | 1.65327413 |
| 125 | Astigmatism (HP:0000483) | 1.63450816 |
| 126 | Truncal obesity (HP:0001956) | 1.63350230 |
| 127 | Duplication of thumb phalanx (HP:0009942) | 1.63285897 |
| 128 | Abnormal lung lobation (HP:0002101) | 1.62800008 |
| 129 | Limb-girdle muscle weakness (HP:0003325) | 1.62528824 |
| 130 | Conjunctival telangiectasia (HP:0000524) | 1.61703687 |
| 131 | Male pseudohermaphroditism (HP:0000037) | 1.56981686 |
| 132 | Aplasia/Hypoplasia of the tibia (HP:0005772) | 1.55753459 |
| 133 | Abnormality of the carotid arteries (HP:0005344) | 1.54614653 |
| 134 | Sandal gap (HP:0001852) | 1.54352593 |
| 135 | Absent frontal sinuses (HP:0002688) | 1.52474544 |
| 136 | Short thorax (HP:0010306) | 1.51562252 |
| 137 | Hypoplasia of the radius (HP:0002984) | 1.50482378 |
| 138 | Renal dysplasia (HP:0000110) | 1.49268397 |
| 139 | Rhabdomyosarcoma (HP:0002859) | 1.47224253 |
| 140 | Prominent nose (HP:0000448) | 1.46529821 |
| 141 | Congenital hepatic fibrosis (HP:0002612) | 1.45637528 |
| 142 | Abnormality of ocular smooth pursuit (HP:0000617) | 1.45432622 |
| 143 | Aplasia/Hypoplasia involving the carpal bones (HP:0006502) | 1.43338183 |
| 144 | Increased nuchal translucency (HP:0010880) | 1.43112076 |
| 145 | Dislocated radial head (HP:0003083) | 1.40949921 |
| 146 | Oligodactyly (HP:0012165) | 1.40397422 |
| 147 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.38875530 |
| 148 | Absent epiphyses (HP:0010577) | 1.38875530 |
| 149 | Postaxial hand polydactyly (HP:0001162) | 1.37688829 |
| 150 | Abnormality of the labia minora (HP:0012880) | 1.37107476 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK3 | 7.40193316 |
| 2 | PDK4 | 7.40193316 |
| 3 | CDK19 | 5.83569108 |
| 4 | PDK2 | 4.61568195 |
| 5 | CDC7 | 4.45729535 |
| 6 | ACVR1B | 4.30980692 |
| 7 | MET | 3.13156138 |
| 8 | PRKD3 | 2.93587198 |
| 9 | WEE1 | 2.81875375 |
| 10 | TESK1 | 2.81039566 |
| 11 | NEK2 | 2.75753323 |
| 12 | CDK12 | 2.74683645 |
| 13 | MAP3K9 | 2.49342257 |
| 14 | MAP3K13 | 2.30055879 |
| 15 | ICK | 2.19438792 |
| 16 | OXSR1 | 1.98533582 |
| 17 | ARAF | 1.95912553 |
| 18 | NEK9 | 1.94398062 |
| 19 | TTK | 1.82551715 |
| 20 | PNCK | 1.81954348 |
| 21 | NEK6 | 1.75093456 |
| 22 | KSR2 | 1.71366167 |
| 23 | MST1R | 1.69740034 |
| 24 | BRSK2 | 1.59743581 |
| 25 | PTK2B | 1.59275393 |
| 26 | PLK4 | 1.56949111 |
| 27 | PLK1 | 1.48031983 |
| 28 | ATR | 1.46654139 |
| 29 | CHEK1 | 1.33791385 |
| 30 | WNK4 | 1.25761559 |
| 31 | CCNB1 | 1.18280463 |
| 32 | BUB1 | 1.13745870 |
| 33 | MUSK | 1.11458576 |
| 34 | PASK | 1.10318435 |
| 35 | CHEK2 | 1.09602627 |
| 36 | DYRK3 | 1.04662406 |
| 37 | STK3 | 1.03629340 |
| 38 | ATM | 1.03540431 |
| 39 | KSR1 | 1.00771609 |
| 40 | TYRO3 | 0.99102348 |
| 41 | STK39 | 0.98791820 |
| 42 | ZAK | 0.98537214 |
| 43 | BRD4 | 0.97469594 |
| 44 | NTRK3 | 0.96973956 |
| 45 | AKT3 | 0.91745314 |
| 46 | PBK | 0.91157599 |
| 47 | RAF1 | 0.90647673 |
| 48 | BRSK1 | 0.90508296 |
| 49 | MAP3K2 | 0.87912282 |
| 50 | NEK1 | 0.85952665 |
| 51 | MAP3K4 | 0.85159073 |
| 52 | PRKCI | 0.84239258 |
| 53 | CDK7 | 0.82838037 |
| 54 | STK38L | 0.81568373 |
| 55 | MOS | 0.80878047 |
| 56 | PDPK1 | 0.74594708 |
| 57 | FLT3 | 0.73880658 |
| 58 | INSRR | 0.71710024 |
| 59 | WNK1 | 0.69134325 |
| 60 | BMPR1B | 0.67190190 |
| 61 | SRPK1 | 0.64117424 |
| 62 | CDK4 | 0.62843812 |
| 63 | AURKB | 0.60668107 |
| 64 | EIF2AK1 | 0.59848560 |
| 65 | CDK3 | 0.59025039 |
| 66 | CDK2 | 0.57723681 |
| 67 | PLK3 | 0.57047843 |
| 68 | TGFBR1 | 0.56427843 |
| 69 | SGK1 | 0.55942037 |
| 70 | STK38 | 0.55873540 |
| 71 | MELK | 0.54763488 |
| 72 | CDK1 | 0.52942053 |
| 73 | STK4 | 0.45826727 |
| 74 | BMX | 0.45691565 |
| 75 | RET | 0.45642506 |
| 76 | MTOR | 0.45243611 |
| 77 | MKNK2 | 0.44993717 |
| 78 | PRKG1 | 0.44960581 |
| 79 | EGFR | 0.43099736 |
| 80 | DYRK1B | 0.42550211 |
| 81 | PDGFRB | 0.41903902 |
| 82 | DDR2 | 0.41775826 |
| 83 | PIK3CG | 0.41769190 |
| 84 | CSF1R | 0.40546264 |
| 85 | FGR | 0.40278564 |
| 86 | IRAK1 | 0.39903612 |
| 87 | EEF2K | 0.39174860 |
| 88 | CDK11A | 0.38995056 |
| 89 | PDK1 | 0.38741322 |
| 90 | SCYL2 | 0.37989859 |
| 91 | AURKA | 0.37695351 |
| 92 | WNK3 | 0.36094754 |
| 93 | PINK1 | 0.36085365 |
| 94 | MARK3 | 0.35669146 |
| 95 | PRKDC | 0.34589326 |
| 96 | PTK2 | 0.34016023 |
| 97 | MAP3K5 | 0.32765524 |
| 98 | MAP3K6 | 0.32487829 |
| 99 | PLK2 | 0.31479063 |
| 100 | DYRK1A | 0.30759346 |
| 101 | CDK9 | 0.30506839 |
| 102 | CAMK1 | 0.30099631 |
| 103 | STK16 | 0.29973471 |
| 104 | PAK4 | 0.29777259 |
| 105 | CSNK2A2 | 0.28872526 |
| 106 | RPS6KA1 | 0.28276094 |
| 107 | PRKCZ | 0.28042449 |
| 108 | MKNK1 | 0.27894564 |
| 109 | MAPK13 | 0.27873601 |
| 110 | CLK1 | 0.26855719 |
| 111 | PAK1 | 0.26255214 |
| 112 | LATS1 | 0.26204605 |
| 113 | MAP3K8 | 0.26016146 |
| 114 | MAP2K2 | 0.25929159 |
| 115 | MAP4K2 | 0.25812555 |
| 116 | GSK3B | 0.25686673 |
| 117 | CSNK2A1 | 0.24894874 |
| 118 | CSNK1D | 0.23994584 |
| 119 | RPS6KB1 | 0.23655435 |
| 120 | MAPK15 | 0.23434732 |
| 121 | CDK8 | 0.22361929 |
| 122 | STK10 | 0.21382589 |
| 123 | MAPK8 | 0.19191457 |
| 124 | EIF2AK3 | 0.17664104 |
| 125 | STK24 | 0.17005329 |
| 126 | KIT | 0.16416731 |
| 127 | MAPK14 | 0.14640017 |
| 128 | TSSK6 | 0.14595031 |
| 129 | CDC42BPA | 0.14179316 |
| 130 | CSNK1E | 0.12940722 |
| 131 | BRAF | 0.12180181 |
| 132 | LMTK2 | 0.11790964 |
| 133 | CAMK1G | 0.10921214 |
| 134 | PRKAA1 | 0.09867457 |
| 135 | IRAK2 | 0.09117249 |
| 136 | VRK1 | 0.08736147 |
| 137 | MAPK10 | 0.08679388 |
| 138 | MAPK1 | 0.07658946 |
| 139 | PRKACB | 0.06087433 |
| 140 | AKT1 | 0.05469101 |
| 141 | CDK6 | 0.05457935 |
| 142 | MAP2K7 | 0.05060353 |
| 143 | MAP2K6 | 0.04999885 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Basal transcription factors_Homo sapiens_hsa03022 | 4.68930389 |
| 2 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 4.37864876 |
| 3 | DNA replication_Homo sapiens_hsa03030 | 3.67450857 |
| 4 | Homologous recombination_Homo sapiens_hsa03440 | 3.66232600 |
| 5 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 3.64463634 |
| 6 | Mismatch repair_Homo sapiens_hsa03430 | 3.49839877 |
| 7 | RNA transport_Homo sapiens_hsa03013 | 3.40446470 |
| 8 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 3.00630319 |
| 9 | Cell cycle_Homo sapiens_hsa04110 | 2.81789523 |
| 10 | Spliceosome_Homo sapiens_hsa03040 | 2.52986103 |
| 11 | Nucleotide excision repair_Homo sapiens_hsa03420 | 2.51850203 |
| 12 | Selenocompound metabolism_Homo sapiens_hsa00450 | 2.50175667 |
| 13 | Non-homologous end-joining_Homo sapiens_hsa03450 | 2.47872621 |
| 14 | Oocyte meiosis_Homo sapiens_hsa04114 | 2.39575329 |
| 15 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 2.31499849 |
| 16 | Proteasome_Homo sapiens_hsa03050 | 2.23227609 |
| 17 | Base excision repair_Homo sapiens_hsa03410 | 2.11511044 |
| 18 | RNA degradation_Homo sapiens_hsa03018 | 2.08671947 |
| 19 | Pyruvate metabolism_Homo sapiens_hsa00620 | 2.04962835 |
| 20 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 1.97389255 |
| 21 | Sulfur relay system_Homo sapiens_hsa04122 | 1.95251350 |
| 22 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.93976221 |
| 23 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 1.82116120 |
| 24 | RNA polymerase_Homo sapiens_hsa03020 | 1.72787880 |
| 25 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.72616977 |
| 26 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 1.61858201 |
| 27 | Circadian rhythm_Homo sapiens_hsa04710 | 1.53649023 |
| 28 | Olfactory transduction_Homo sapiens_hsa04740 | 1.51925121 |
| 29 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 1.51384188 |
| 30 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.35621901 |
| 31 | Purine metabolism_Homo sapiens_hsa00230 | 1.34049785 |
| 32 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.23097638 |
| 33 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.21913865 |
| 34 | Huntingtons disease_Homo sapiens_hsa05016 | 1.20140806 |
| 35 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 1.18412379 |
| 36 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.15536507 |
| 37 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 1.15385686 |
| 38 | p53 signaling pathway_Homo sapiens_hsa04115 | 1.14269360 |
| 39 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.14106859 |
| 40 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.13845006 |
| 41 | Herpes simplex infection_Homo sapiens_hsa05168 | 1.13439905 |
| 42 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.13223150 |
| 43 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.07402635 |
| 44 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 1.05293893 |
| 45 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.04882102 |
| 46 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.03094068 |
| 47 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 1.01768715 |
| 48 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.99357574 |
| 49 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.92455480 |
| 50 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.83824976 |
| 51 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.74025593 |
| 52 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.71335317 |
| 53 | Influenza A_Homo sapiens_hsa05164 | 0.70781885 |
| 54 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 0.68993608 |
| 55 | HTLV-I infection_Homo sapiens_hsa05166 | 0.68276963 |
| 56 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.64519292 |
| 57 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.64236857 |
| 58 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.63886640 |
| 59 | Phototransduction_Homo sapiens_hsa04744 | 0.59119441 |
| 60 | Carbon metabolism_Homo sapiens_hsa01200 | 0.56951287 |
| 61 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.56623445 |
| 62 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.56337032 |
| 63 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.54554991 |
| 64 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.52572726 |
| 65 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 0.52389639 |
| 66 | Lysine degradation_Homo sapiens_hsa00310 | 0.51830425 |
| 67 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.51504219 |
| 68 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.51465317 |
| 69 | Nicotine addiction_Homo sapiens_hsa05033 | 0.49374148 |
| 70 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.49276819 |
| 71 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.49062901 |
| 72 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.48289979 |
| 73 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.45877991 |
| 74 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.45231009 |
| 75 | Taste transduction_Homo sapiens_hsa04742 | 0.44645607 |
| 76 | Legionellosis_Homo sapiens_hsa05134 | 0.44337563 |
| 77 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.43473042 |
| 78 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.41897687 |
| 79 | Thyroid cancer_Homo sapiens_hsa05216 | 0.40877878 |
| 80 | Retinol metabolism_Homo sapiens_hsa00830 | 0.40568291 |
| 81 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.39705275 |
| 82 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.39497203 |
| 83 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.39312182 |
| 84 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.38379260 |
| 85 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.35808808 |
| 86 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.35655743 |
| 87 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.34799533 |
| 88 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.33968693 |
| 89 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.33186570 |
| 90 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.32673124 |
| 91 | Gap junction_Homo sapiens_hsa04540 | 0.32500908 |
| 92 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.30861805 |
| 93 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.28217525 |
| 94 | Endocytosis_Homo sapiens_hsa04144 | 0.27455666 |
| 95 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.26776550 |
| 96 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.25817080 |
| 97 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.24373804 |
| 98 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.23044131 |
| 99 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.22746759 |
| 100 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.22691233 |
| 101 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.21459648 |
| 102 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.20476891 |
| 103 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.19327395 |
| 104 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.19157212 |
| 105 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.18530122 |
| 106 | FoxO signaling pathway_Homo sapiens_hsa04068 | 0.17826463 |
| 107 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.17081119 |
| 108 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.15037630 |
| 109 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.15015095 |
| 110 | Prostate cancer_Homo sapiens_hsa05215 | 0.14922833 |
| 111 | Long-term potentiation_Homo sapiens_hsa04720 | 0.14295058 |
| 112 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.14223578 |
| 113 | Small cell lung cancer_Homo sapiens_hsa05222 | 0.13905092 |
| 114 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.13478642 |
| 115 | Long-term depression_Homo sapiens_hsa04730 | 0.12872725 |
| 116 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.12542283 |
| 117 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.12426321 |
| 118 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.11587641 |
| 119 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.10965278 |
| 120 | Mineral absorption_Homo sapiens_hsa04978 | 0.10592605 |
| 121 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.10202231 |
| 122 | Tight junction_Homo sapiens_hsa04530 | 0.09642612 |
| 123 | Metabolic pathways_Homo sapiens_hsa01100 | 0.09293488 |
| 124 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.08932157 |
| 125 | ABC transporters_Homo sapiens_hsa02010 | 0.08423549 |
| 126 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.08185910 |
| 127 | Alcoholism_Homo sapiens_hsa05034 | 0.07902879 |
| 128 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.07352408 |
| 129 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.07016604 |
| 130 | Endometrial cancer_Homo sapiens_hsa05213 | 0.06936480 |
| 131 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.06698479 |
| 132 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.06587683 |
| 133 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.06414799 |
| 134 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.06212363 |
| 135 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.05538304 |
| 136 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.05481829 |
| 137 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.05333714 |
| 138 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 0.05321607 |
| 139 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.04645877 |
| 140 | Adherens junction_Homo sapiens_hsa04520 | 0.04392825 |
| 141 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.04278224 |
| 142 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.03704377 |
| 143 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.02965319 |
| 144 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.01898042 |
| 145 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | -0.0201929 |
| 146 | Renin secretion_Homo sapiens_hsa04924 | -0.0064568 |

