

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 9.88475691 |
| 2 | plasma membrane fusion (GO:0045026) | 9.68722108 |
| 3 | sperm-egg recognition (GO:0035036) | 9.53360547 |
| 4 | cell-cell recognition (GO:0009988) | 8.48066442 |
| 5 | acrosome reaction (GO:0007340) | 8.45533371 |
| 6 | binding of sperm to zona pellucida (GO:0007339) | 8.45011413 |
| 7 | reproduction (GO:0000003) | 8.25374335 |
| 8 | regulation of cilium movement (GO:0003352) | 7.91818010 |
| 9 | spermatid development (GO:0007286) | 7.70236440 |
| 10 | piRNA metabolic process (GO:0034587) | 7.58039154 |
| 11 | ventricular system development (GO:0021591) | 7.30420874 |
| 12 | male meiosis (GO:0007140) | 7.02359074 |
| 13 | single fertilization (GO:0007338) | 6.95693557 |
| 14 | axoneme assembly (GO:0035082) | 6.78713772 |
| 15 | synaptonemal complex organization (GO:0070193) | 6.41260157 |
| 16 | regulation of DNA methylation (GO:0044030) | 6.04647946 |
| 17 | synaptonemal complex assembly (GO:0007130) | 5.98490800 |
| 18 | fertilization (GO:0009566) | 5.72920710 |
| 19 | regulation of female gonad development (GO:2000194) | 5.72078532 |
| 20 | negative regulation of inclusion body assembly (GO:0090084) | 5.60222432 |
| 21 | retinal cone cell development (GO:0046549) | 5.36202680 |
| 22 | sperm capacitation (GO:0048240) | 5.35313705 |
| 23 | nucleoside diphosphate phosphorylation (GO:0006165) | 5.33234404 |
| 24 | male meiosis I (GO:0007141) | 5.27920183 |
| 25 | microtubule severing (GO:0051013) | 5.26551104 |
| 26 | intraciliary transport (GO:0042073) | 5.23950043 |
| 27 | spermatogenesis (GO:0007283) | 5.19524944 |
| 28 | male gamete generation (GO:0048232) | 5.17474931 |
| 29 | GTP biosynthetic process (GO:0006183) | 5.12845139 |
| 30 | microtubule depolymerization (GO:0007019) | 5.03004070 |
| 31 | DNA methylation involved in gamete generation (GO:0043046) | 4.88905035 |
| 32 | gamete generation (GO:0007276) | 4.78665433 |
| 33 | regulation of inclusion body assembly (GO:0090083) | 4.74878815 |
| 34 | spermatid nucleus differentiation (GO:0007289) | 4.73386647 |
| 35 | protein localization to cilium (GO:0061512) | 4.66047542 |
| 36 | regulation of microtubule-based movement (GO:0060632) | 4.60404736 |
| 37 | UTP biosynthetic process (GO:0006228) | 4.59916946 |
| 38 | cilium organization (GO:0044782) | 4.53181331 |
| 39 | female gamete generation (GO:0007292) | 4.50718394 |
| 40 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.40929511 |
| 41 | meiosis I (GO:0007127) | 4.40656715 |
| 42 | regulation of acrosome reaction (GO:0060046) | 4.33376850 |
| 43 | cell recognition (GO:0008037) | 4.32314312 |
| 44 | cilium assembly (GO:0042384) | 4.31228733 |
| 45 | germ cell development (GO:0007281) | 4.30599200 |
| 46 | calcium ion-dependent exocytosis (GO:0017156) | 4.26580138 |
| 47 | chromosome organization involved in meiosis (GO:0070192) | 4.22285303 |
| 48 | meiotic nuclear division (GO:0007126) | 4.18761780 |
| 49 | protein polyglutamylation (GO:0018095) | 4.18707836 |
| 50 | UTP metabolic process (GO:0046051) | 4.13949150 |
| 51 | meiotic cell cycle (GO:0051321) | 4.12116268 |
| 52 | microtubule-based movement (GO:0007018) | 3.99666041 |
| 53 | left/right axis specification (GO:0070986) | 3.99556440 |
| 54 | regulation of histone H3-K9 methylation (GO:0051570) | 3.98572844 |
| 55 | organic cation transport (GO:0015695) | 3.97081302 |
| 56 | cellular component assembly involved in morphogenesis (GO:0010927) | 3.96048921 |
| 57 | neuron fate determination (GO:0048664) | 3.95977600 |
| 58 | positive regulation of gastrulation (GO:2000543) | 3.94163296 |
| 59 | relaxation of smooth muscle (GO:0044557) | 3.91869653 |
| 60 | regulation of cell maturation (GO:1903429) | 3.90365914 |
| 61 | guanosine-containing compound biosynthetic process (GO:1901070) | 3.85961212 |
| 62 | left/right pattern formation (GO:0060972) | 3.83924094 |
| 63 | multicellular organismal reproductive process (GO:0048609) | 3.76377898 |
| 64 | positive regulation of mitotic sister chromatid separation (GO:1901970) | 3.69691982 |
| 65 | positive regulation of mitotic metaphase/anaphase transition (GO:0045842) | 3.69691982 |
| 66 | positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101) | 3.69691982 |
| 67 | centriole replication (GO:0007099) | 3.68460190 |
| 68 | monoubiquitinated protein deubiquitination (GO:0035520) | 3.66438850 |
| 69 | centriole assembly (GO:0098534) | 3.65452230 |
| 70 | oocyte development (GO:0048599) | 3.62672832 |
| 71 | * cilium morphogenesis (GO:0060271) | 3.59530809 |
| 72 | microtubule bundle formation (GO:0001578) | 3.59099032 |
| 73 | regulation of steroid hormone secretion (GO:2000831) | 3.52987307 |
| 74 | chaperone-mediated protein complex assembly (GO:0051131) | 3.52793761 |
| 75 | negative regulation of reproductive process (GO:2000242) | 3.48833428 |
| 76 | positive regulation of histone H3-K4 methylation (GO:0051571) | 3.35819404 |
| 77 | CTP biosynthetic process (GO:0006241) | 3.34299959 |
| 78 | CTP metabolic process (GO:0046036) | 3.34299959 |
| 79 | seminiferous tubule development (GO:0072520) | 3.29817349 |
| 80 | pyrimidine-containing compound transmembrane transport (GO:0072531) | 3.26999269 |
| 81 | primitive streak formation (GO:0090009) | 3.23152451 |
| 82 | regulation of centriole replication (GO:0046599) | 3.19497037 |
| 83 | pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148) | 3.15614201 |
| 84 | determination of left/right symmetry (GO:0007368) | 3.12273840 |
| 85 | determination of bilateral symmetry (GO:0009855) | 3.08623373 |
| 86 | pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209) | 3.07388963 |
| 87 | specification of symmetry (GO:0009799) | 3.04926528 |
| 88 | regulation of meiosis (GO:0040020) | 3.03369133 |
| 89 | somite rostral/caudal axis specification (GO:0032525) | 2.97903626 |
| 90 | nucleotide phosphorylation (GO:0046939) | 2.96892439 |
| 91 | glycine transport (GO:0015816) | 2.95872153 |
| 92 | negative regulation of histone methylation (GO:0031061) | 2.95856850 |
| 93 | genitalia morphogenesis (GO:0035112) | 2.93940712 |
| 94 | oogenesis (GO:0048477) | 2.88439883 |
| 95 | establishment of chromosome localization (GO:0051303) | 2.86568930 |
| 96 | multicellular organismal development (GO:0007275) | 2.84416425 |
| 97 | pyrimidine ribonucleoside triphosphate metabolic process (GO:0009208) | 2.82446115 |
| 98 | mitotic metaphase plate congression (GO:0007080) | 2.81592226 |
| 99 | cell projection assembly (GO:0030031) | 2.81521795 |
| 100 | glycerol ether metabolic process (GO:0006662) | 2.80501689 |
| 101 | alditol metabolic process (GO:0019400) | 2.78241235 |
| 102 | polyol catabolic process (GO:0046174) | 2.75197673 |
| 103 | pyrimidine nucleoside triphosphate metabolic process (GO:0009147) | 2.74800510 |
| 104 | regulation of meiosis I (GO:0060631) | 2.73484692 |
| 105 | meiotic cell cycle process (GO:1903046) | 2.73251202 |
| 106 | peptidyl-threonine dephosphorylation (GO:0035970) | 2.72873373 |
| 107 | * smoothened signaling pathway (GO:0007224) | 2.68038910 |
| 108 | regulation of meiotic cell cycle (GO:0051445) | 2.67283440 |
| 109 | photoreceptor cell maintenance (GO:0045494) | 2.67187916 |
| 110 | reproductive system development (GO:0061458) | 2.66244891 |
| 111 | synapsis (GO:0007129) | 2.66186176 |
| 112 | organelle assembly (GO:0070925) | 2.65879792 |
| 113 | nonmotile primary cilium assembly (GO:0035058) | 2.65834969 |
| 114 | histone H2A acetylation (GO:0043968) | 2.65701917 |
| 115 | metaphase plate congression (GO:0051310) | 2.63959897 |
| 116 | negative regulation of organelle assembly (GO:1902116) | 2.63364250 |
| 117 | positive regulation of chromosome segregation (GO:0051984) | 2.62835739 |
| 118 | DNA alkylation (GO:0006305) | 2.61697213 |
| 119 | DNA methylation (GO:0006306) | 2.61697213 |
| 120 | nucleus organization (GO:0006997) | 2.61625303 |
| 121 | histone H3-K9 demethylation (GO:0033169) | 2.61170742 |
| 122 | gene silencing by RNA (GO:0031047) | 2.60386981 |
| 123 | nucleoside diphosphate metabolic process (GO:0009132) | 2.60056087 |
| 124 | ether metabolic process (GO:0018904) | 2.59800073 |
| 125 | microtubule polymerization or depolymerization (GO:0031109) | 2.59201506 |
| 126 | regulation of spindle checkpoint (GO:0090231) | 2.52914582 |
| 127 | protein refolding (GO:0042026) | 2.46184627 |
| 128 | glycerol metabolic process (GO:0006071) | 2.43620384 |
| 129 | microtubule-based process (GO:0007017) | 2.39419154 |
| 130 | protein K11-linked deubiquitination (GO:0035871) | 2.38252061 |
| 131 | cilium or flagellum-dependent cell motility (GO:0001539) | 15.4004810 |
| 132 | axonemal dynein complex assembly (GO:0070286) | 13.6617932 |
| 133 | fusion of sperm to egg plasma membrane (GO:0007342) | 12.6830255 |
| 134 | cilium movement (GO:0003341) | 11.6993493 |
| 135 | epithelial cilium movement (GO:0003351) | 11.3471450 |
| 136 | acrosome assembly (GO:0001675) | 10.7294086 |
| 137 | cell wall macromolecule metabolic process (GO:0044036) | 10.4084536 |
| 138 | cell wall macromolecule catabolic process (GO:0016998) | 10.4084536 |
| 139 | multicellular organism reproduction (GO:0032504) | 10.2578721 |
| 140 | motile cilium assembly (GO:0044458) | 10.2036124 |
| 141 | sperm motility (GO:0030317) | 10.0538648 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 8.26632111 |
| 2 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 4.49117603 |
| 3 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 4.38636463 |
| 4 | EZH2_22144423_ChIP-Seq_EOC_Human | 4.38298500 |
| 5 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 4.18752764 |
| 6 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 4.07051990 |
| 7 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 3.70594702 |
| 8 | GBX2_23144817_ChIP-Seq_PC3_Human | 3.00312329 |
| 9 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.88086876 |
| 10 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 2.73915168 |
| 11 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 2.56514626 |
| 12 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.35137242 |
| 13 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.26458837 |
| 14 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 2.15949101 |
| 15 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.10889862 |
| 16 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 2.01905952 |
| 17 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 2.00717628 |
| 18 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.99454141 |
| 19 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 1.97524061 |
| 20 | EWS_26573619_Chip-Seq_HEK293_Human | 1.92707342 |
| 21 | P300_19829295_ChIP-Seq_ESCs_Human | 1.87628539 |
| 22 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.87568517 |
| 23 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.86288937 |
| 24 | * TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.84916297 |
| 25 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.82430165 |
| 26 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.77863079 |
| 27 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.76581431 |
| 28 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.75561682 |
| 29 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.74520840 |
| 30 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.73867891 |
| 31 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.73410803 |
| 32 | * STAT3_23295773_ChIP-Seq_U87_Human | 1.68619328 |
| 33 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.67923892 |
| 34 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.67106176 |
| 35 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.67045121 |
| 36 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.65850894 |
| 37 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.64322759 |
| 38 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.62899815 |
| 39 | AR_25329375_ChIP-Seq_VCAP_Human | 1.62657664 |
| 40 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.61857559 |
| 41 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.61559154 |
| 42 | FOXM1_26456572_ChIP-Seq_MCF-7_Human | 1.58756361 |
| 43 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.57017243 |
| 44 | VDR_22108803_ChIP-Seq_LS180_Human | 1.54506192 |
| 45 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.51514469 |
| 46 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.50800760 |
| 47 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.50769827 |
| 48 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 1.49533980 |
| 49 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.49028232 |
| 50 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.48442142 |
| 51 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.47016565 |
| 52 | * WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.46290622 |
| 53 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.45901504 |
| 54 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.43800232 |
| 55 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.41978444 |
| 56 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.40691243 |
| 57 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.40402790 |
| 58 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.39990968 |
| 59 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.39213531 |
| 60 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.37890045 |
| 61 | GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.37346620 |
| 62 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.37075958 |
| 63 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.36983029 |
| 64 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.36983029 |
| 65 | P53_22387025_ChIP-Seq_ESCs_Mouse | 1.36972234 |
| 66 | KDM2B_26808549_Chip-Seq_REH_Human | 1.36528249 |
| 67 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 1.36455315 |
| 68 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.34940408 |
| 69 | OCT4_18555785_Chip-Seq_ESCs_Mouse | 1.34930513 |
| 70 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.34864781 |
| 71 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.34859320 |
| 72 | SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.33622063 |
| 73 | KLF5_18264089_ChIP-ChIP_MESCs_Mouse | 1.33155848 |
| 74 | KLF4_18264089_ChIP-ChIP_MESCs_Mouse | 1.33155848 |
| 75 | KLF2_18264089_ChIP-ChIP_MESCs_Mouse | 1.33155848 |
| 76 | TP53_16413492_ChIP-PET_HCT116_Human | 1.30631960 |
| 77 | EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 1.29921394 |
| 78 | HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse | 1.28971346 |
| 79 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.27563861 |
| 80 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.27563861 |
| 81 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.27041901 |
| 82 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 1.27001653 |
| 83 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.26362937 |
| 84 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 1.23594706 |
| 85 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.23567654 |
| 86 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.22978689 |
| 87 | P300_18555785_Chip-Seq_ESCs_Mouse | 1.22278951 |
| 88 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 1.21739630 |
| 89 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 1.21536437 |
| 90 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 1.20618664 |
| 91 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.20531095 |
| 92 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.19599040 |
| 93 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.19599040 |
| 94 | KLF4_18555785_Chip-Seq_ESCs_Mouse | 1.18820772 |
| 95 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.17572781 |
| 96 | SOX2_18555785_Chip-Seq_ESCs_Mouse | 1.17564840 |
| 97 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.17537487 |
| 98 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.17432453 |
| 99 | ESRRB_18555785_Chip-Seq_ESCs_Mouse | 1.16126176 |
| 100 | OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.16071949 |
| 101 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.15933495 |
| 102 | CDX2_22108803_ChIP-Seq_LS180_Human | 1.14683811 |
| 103 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.13982396 |
| 104 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.13715131 |
| 105 | E2F1_18555785_Chip-Seq_ESCs_Mouse | 1.13294889 |
| 106 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.12025849 |
| 107 | LUZP1_20508642_ChIP-Seq_ESCs_Mouse | 1.11170561 |
| 108 | RUNX1_27457419_Chip-Seq_LIVER_Mouse | 1.10771469 |
| 109 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.10622485 |
| 110 | ZFX_18555785_Chip-Seq_ESCs_Mouse | 1.10144380 |
| 111 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.10069980 |
| 112 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.10065342 |
| 113 | GATA3_21867929_ChIP-Seq_TH1_Mouse | 1.09740447 |
| 114 | EP300_21415370_ChIP-Seq_HL-1_Mouse | 1.08825270 |
| 115 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.08509419 |
| 116 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.08012063 |
| 117 | CBP_21632823_ChIP-Seq_H3396_Human | 1.06290969 |
| 118 | CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.05915075 |
| 119 | LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.04896251 |
| 120 | PU1_27457419_Chip-Seq_LIVER_Mouse | 1.04825491 |
| 121 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.04684409 |
| 122 | CTCF_18555785_Chip-Seq_ESCs_Mouse | 1.04524400 |
| 123 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.04519903 |
| 124 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 1.04495462 |
| 125 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.04046530 |
| 126 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.03087760 |
| 127 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.02714220 |
| 128 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.02543580 |
| 129 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.02508527 |
| 130 | SOX2_21211035_ChIP-Seq_LN229_Gbm | 1.01701276 |
| 131 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 1.01656549 |
| 132 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.01375661 |
| 133 | SOX9_26525672_Chip-Seq_HEART_Mouse | 1.01022322 |
| 134 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.00632253 |
| 135 | AR_20517297_ChIP-Seq_VCAP_Human | 0.99610406 |
| 136 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.99244484 |
| 137 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 0.99190948 |
| 138 | GF1B_26923725_Chip-Seq_HPCs_Mouse | 0.98933973 |
| 139 | NMYC_18555785_Chip-Seq_ESCs_Mouse | 0.98800721 |
| 140 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.98034174 |
| 141 | FUS_26573619_Chip-Seq_HEK293_Human | 0.97489221 |
| 142 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 0.97298434 |
| 143 | TBL1_22424771_ChIP-Seq_293T_Human | 0.96584694 |
| 144 | ERG_20517297_ChIP-Seq_VCAP_Human | 0.96228304 |
| 145 | NFYB_21822215_ChIP-Seq_K562_Human | 0.95672835 |
| 146 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 0.95069107 |
| 147 | * AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 0.94494007 |
| 148 | SMAD1_18555785_Chip-Seq_ESCs_Mouse | 0.94490494 |
| 149 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 0.94361822 |
| 150 | RXR_22108803_ChIP-Seq_LS180_Human | 0.94349284 |
| 151 | LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.93849176 |
| 152 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 0.92922694 |
| 153 | TCF4_23295773_ChIP-Seq_U87_Human | 0.92431651 |
| 154 | STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse | 0.92245941 |
| 155 | * TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse | 0.90774592 |
| 156 | * FOXA1_27270436_Chip-Seq_PROSTATE_Human | 0.89532303 |
| 157 | * FOXA1_25329375_ChIP-Seq_VCAP_Human | 0.89532303 |
| 158 | SALL4_22934838_ChIP-ChIP_CD34+_Human | 0.88304354 |
| 159 | JUN_21703547_ChIP-Seq_K562_Human | 0.87501500 |
| 160 | PHF8_20622853_ChIP-Seq_HELA_Human | 0.86809700 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 5.22412048 |
| 2 | MP0001929_abnormal_gametogenesis | 4.78009919 |
| 3 | MP0002653_abnormal_ependyma_morphology | 4.75041734 |
| 4 | MP0008877_abnormal_DNA_methylation | 4.30017639 |
| 5 | MP0001984_abnormal_olfaction | 3.80867010 |
| 6 | MP0003136_yellow_coat_color | 3.78965249 |
| 7 | MP0002210_abnormal_sex_determination | 3.36062789 |
| 8 | MP0010030_abnormal_orbit_morphology | 3.22965165 |
| 9 | MP0005623_abnormal_meninges_morphology | 2.90031251 |
| 10 | MP0002161_abnormal_fertility/fecundity | 2.86719381 |
| 11 | MP0001145_abnormal_male_reproductive | 2.83645205 |
| 12 | MP0000653_abnormal_sex_gland | 2.52897048 |
| 13 | MP0002160_abnormal_reproductive_system | 2.42321102 |
| 14 | MP0000566_synostosis | 2.30764442 |
| 15 | MP0003890_abnormal_embryonic-extraembry | 2.29296860 |
| 16 | MP0005395_other_phenotype | 2.17898921 |
| 17 | MP0005410_abnormal_fertilization | 12.2885504 |
| 18 | MP0009046_muscle_twitch | 1.86395216 |
| 19 | MP0002139_abnormal_hepatobiliary_system | 1.72870458 |
| 20 | MP0002282_abnormal_trachea_morphology | 1.66671877 |
| 21 | MP0002102_abnormal_ear_morphology | 1.57684189 |
| 22 | MP0008057_abnormal_DNA_replication | 1.52378517 |
| 23 | MP0000631_abnormal_neuroendocrine_gland | 1.46784473 |
| 24 | MP0000383_abnormal_hair_follicle | 1.45981440 |
| 25 | MP0010678_abnormal_skin_adnexa | 1.43477022 |
| 26 | MP0008995_early_reproductive_senescence | 1.41378954 |
| 27 | MP0005389_reproductive_system_phenotype | 1.37360790 |
| 28 | MP0005670_abnormal_white_adipose | 1.29698767 |
| 29 | MP0008058_abnormal_DNA_repair | 1.25194967 |
| 30 | MP0000049_abnormal_middle_ear | 1.24840167 |
| 31 | MP0004133_heterotaxia | 1.20869725 |
| 32 | MP0008004_abnormal_stomach_pH | 1.19663041 |
| 33 | MP0003646_muscle_fatigue | 1.17989727 |
| 34 | MP0008875_abnormal_xenobiotic_pharmacok | 1.17961895 |
| 35 | MP0002138_abnormal_hepatobiliary_system | 1.15042473 |
| 36 | MP0004043_abnormal_pH_regulation | 1.14724700 |
| 37 | MP0003878_abnormal_ear_physiology | 1.13824580 |
| 38 | MP0005377_hearing/vestibular/ear_phenot | 1.13824580 |
| 39 | MP0003119_abnormal_digestive_system | 1.12531941 |
| 40 | MP0006276_abnormal_autonomic_nervous | 1.09736332 |
| 41 | MP0002928_abnormal_bile_duct | 1.08168160 |
| 42 | MP0001765_abnormal_ion_homeostasis | 1.06919968 |
| 43 | MP0005647_abnormal_sex_gland | 1.06837758 |
| 44 | MP0003183_abnormal_peptide_metabolism | 1.04830486 |
| 45 | MP0004142_abnormal_muscle_tone | 1.02288322 |
| 46 | MP0004233_abnormal_muscle_weight | 1.02106168 |
| 47 | MP0003950_abnormal_plasma_membrane | 1.01106924 |
| 48 | MP0000427_abnormal_hair_cycle | 0.99030208 |
| 49 | MP0003786_premature_aging | 0.98631403 |
| 50 | MP0000678_abnormal_parathyroid_gland | 0.96614519 |
| 51 | MP0002234_abnormal_pharynx_morphology | 0.95677798 |
| 52 | MP0003077_abnormal_cell_cycle | 0.95621274 |
| 53 | MP0001485_abnormal_pinna_reflex | 0.91596082 |
| 54 | MP0010234_abnormal_vibrissa_follicle | 0.89783355 |
| 55 | MP0001324_abnormal_eye_pigmentation | 0.89538514 |
| 56 | MP0002277_abnormal_respiratory_mucosa | 0.89307832 |
| 57 | MP0005551_abnormal_eye_electrophysiolog | 0.88138776 |
| 58 | MP0003121_genomic_imprinting | 0.84118664 |
| 59 | MP0005248_abnormal_Harderian_gland | 0.83863337 |
| 60 | MP0003195_calcinosis | 0.81352330 |
| 61 | MP0005360_urolithiasis | 0.80966168 |
| 62 | MP0002249_abnormal_larynx_morphology | 0.79619819 |
| 63 | MP0000762_abnormal_tongue_morphology | 0.77474907 |
| 64 | MP0003755_abnormal_palate_morphology | 0.76004533 |
| 65 | MP0004742_abnormal_vestibular_system | 0.74463313 |
| 66 | MP0002084_abnormal_developmental_patter | 0.74346888 |
| 67 | MP0005646_abnormal_pituitary_gland | 0.74149301 |
| 68 | MP0003283_abnormal_digestive_organ | 0.73933407 |
| 69 | MP0005085_abnormal_gallbladder_physiolo | 0.73594774 |
| 70 | MP0003011_delayed_dark_adaptation | 0.72599985 |
| 71 | MP0010094_abnormal_chromosome_stability | 0.72430611 |
| 72 | MP0003937_abnormal_limbs/digits/tail_de | 0.72301865 |
| 73 | MP0009780_abnormal_chondrocyte_physiolo | 0.70270784 |
| 74 | MP0004019_abnormal_vitamin_homeostasis | 0.70186170 |
| 75 | MP0004381_abnormal_hair_follicle | 0.70112307 |
| 76 | MP0000778_abnormal_nervous_system | 0.70034017 |
| 77 | MP0003252_abnormal_bile_duct | 0.68564265 |
| 78 | MP0001661_extended_life_span | 0.68412615 |
| 79 | MP0001293_anophthalmia | 0.68193347 |
| 80 | MP0003879_abnormal_hair_cell | 0.68161427 |
| 81 | MP0001529_abnormal_vocalization | 0.67770322 |
| 82 | MP0003861_abnormal_nervous_system | 0.67069171 |
| 83 | MP0003718_maternal_effect | 0.66673533 |
| 84 | MP0002152_abnormal_brain_morphology | 0.66027140 |
| 85 | MP0002751_abnormal_autonomic_nervous | 0.65477820 |
| 86 | MP0001486_abnormal_startle_reflex | 0.65287647 |
| 87 | MP0004858_abnormal_nervous_system | 0.64993543 |
| 88 | MP0008789_abnormal_olfactory_epithelium | 0.64963874 |
| 89 | MP0003938_abnormal_ear_development | 0.64740146 |
| 90 | MP0001440_abnormal_grooming_behavior | 0.64220899 |
| 91 | MP0005499_abnormal_olfactory_system | 0.63988169 |
| 92 | MP0005394_taste/olfaction_phenotype | 0.63988169 |
| 93 | MP0005423_abnormal_somatic_nervous | 0.63219261 |
| 94 | MP0002557_abnormal_social/conspecific_i | 0.62539105 |
| 95 | MP0001286_abnormal_eye_development | 0.62374181 |
| 96 | MP0005187_abnormal_penis_morphology | 0.60408784 |
| 97 | MP0001502_abnormal_circadian_rhythm | 0.59401647 |
| 98 | MP0005171_absent_coat_pigmentation | 0.59371978 |
| 99 | MP0003935_abnormal_craniofacial_develop | 0.59170482 |
| 100 | MP0002752_abnormal_somatic_nervous | 0.59114951 |
| 101 | MP0006292_abnormal_olfactory_placode | 0.57888183 |
| 102 | MP0002572_abnormal_emotion/affect_behav | 0.57280302 |
| 103 | MP0004270_analgesia | 0.56761321 |
| 104 | MP0002734_abnormal_mechanical_nocicepti | 0.56167767 |
| 105 | MP0005391_vision/eye_phenotype | 0.56039664 |
| 106 | MP0003699_abnormal_female_reproductive | 0.55862389 |
| 107 | MP0002971_abnormal_brown_adipose | 0.54743882 |
| 108 | MP0003635_abnormal_synaptic_transmissio | 0.54742464 |
| 109 | MP0000026_abnormal_inner_ear | 0.53377721 |
| 110 | MP0003111_abnormal_nucleus_morphology | 0.52801990 |
| 111 | MP0005253_abnormal_eye_physiology | 0.52383271 |
| 112 | MP0001119_abnormal_female_reproductive | 0.52015323 |
| 113 | MP0000647_abnormal_sebaceous_gland | 0.51791000 |
| 114 | MP0009745_abnormal_behavioral_response | 0.51268897 |
| 115 | MP0005636_abnormal_mineral_homeostasis | 0.49342079 |
| 116 | MP0003634_abnormal_glial_cell | 0.49221222 |
| 117 | MP0001919_abnormal_reproductive_system | 0.49212821 |
| 118 | MP0004859_abnormal_synaptic_plasticity | 0.49101141 |
| 119 | MP0008007_abnormal_cellular_replicative | 0.46856871 |
| 120 | MP0002272_abnormal_nervous_system | 0.46840711 |
| 121 | MP0002092_abnormal_eye_morphology | 0.45780507 |
| 122 | MP0002233_abnormal_nose_morphology | 0.45643197 |
| 123 | MP0002132_abnormal_respiratory_system | 0.45230605 |
| 124 | MP0005388_respiratory_system_phenotype | 0.44650320 |
| 125 | MP0002133_abnormal_respiratory_system | 0.44650320 |
| 126 | MP0001963_abnormal_hearing_physiology | 0.44229066 |
| 127 | MP0001968_abnormal_touch/_nociception | 0.44207730 |
| 128 | MP0002882_abnormal_neuron_morphology | 0.43093984 |
| 129 | MP0003115_abnormal_respiratory_system | 0.43014912 |
| 130 | MP0000432_abnormal_head_morphology | 0.42823468 |
| 131 | MP0002067_abnormal_sensory_capabilities | 0.42668084 |
| 132 | MP0002064_seizures | 0.42005168 |
| 133 | MP0003693_abnormal_embryo_hatching | 0.41396432 |
| 134 | MP0005195_abnormal_posterior_eye | 0.40993889 |
| 135 | MP0002638_abnormal_pupillary_reflex | 0.40904465 |
| 136 | MP0003942_abnormal_urinary_system | 0.38941976 |
| 137 | MP0001986_abnormal_taste_sensitivity | 0.38929986 |
| 138 | MP0006072_abnormal_retinal_apoptosis | 0.37906021 |
| 139 | MP0002938_white_spotting | 0.36949360 |
| 140 | MP0003329_amyloid_beta_deposits | 0.36913888 |
| 141 | MP0002063_abnormal_learning/memory/cond | 0.36591309 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal respiratory motile cilium morphology (HP:0005938) | 9.46919795 |
| 2 | Abnormal respiratory epithelium morphology (HP:0012253) | 9.46919795 |
| 3 | Rhinitis (HP:0012384) | 9.12552344 |
| 4 | Chronic bronchitis (HP:0004469) | 7.29034095 |
| 5 | Nasal polyposis (HP:0100582) | 5.95247780 |
| 6 | Bronchiectasis (HP:0002110) | 5.34667559 |
| 7 | Infertility (HP:0000789) | 5.12124334 |
| 8 | Abnormality of the nasal mucosa (HP:0000433) | 4.83661631 |
| 9 | Bronchitis (HP:0012387) | 4.13262567 |
| 10 | Nephronophthisis (HP:0000090) | 3.89959803 |
| 11 | Recurrent sinusitis (HP:0011108) | 3.75562795 |
| 12 | Medial flaring of the eyebrow (HP:0010747) | 3.25189494 |
| 13 | Pancreatic fibrosis (HP:0100732) | 3.17176437 |
| 14 | Recurrent otitis media (HP:0000403) | 3.16668919 |
| 15 | Abnormality of midbrain morphology (HP:0002418) | 3.12388729 |
| 16 | Molar tooth sign on MRI (HP:0002419) | 3.12388729 |
| 17 | Abnormality of abdominal situs (HP:0011620) | 3.02299390 |
| 18 | Abdominal situs inversus (HP:0003363) | 3.02299390 |
| 19 | Abnormality of the renal medulla (HP:0100957) | 2.98695573 |
| 20 | Male infertility (HP:0003251) | 2.87460430 |
| 21 | Tubulointerstitial nephritis (HP:0001970) | 2.80830069 |
| 22 | Facial hemangioma (HP:0000329) | 2.70633797 |
| 23 | True hermaphroditism (HP:0010459) | 2.69451935 |
| 24 | Gait imbalance (HP:0002141) | 2.59462298 |
| 25 | Septo-optic dysplasia (HP:0100842) | 2.58680016 |
| 26 | Congenital primary aphakia (HP:0007707) | 2.57668518 |
| 27 | Fibular hypoplasia (HP:0003038) | 2.57110864 |
| 28 | Chronic sinusitis (HP:0011109) | 2.54865970 |
| 29 | Oligodactyly (hands) (HP:0001180) | 2.46113822 |
| 30 | Median cleft lip (HP:0000161) | 2.42407012 |
| 31 | Postaxial foot polydactyly (HP:0001830) | 2.41382172 |
| 32 | Short tibia (HP:0005736) | 2.37863452 |
| 33 | Abnormality of the labia minora (HP:0012880) | 2.36932176 |
| 34 | Aplasia/Hypoplasia of the tibia (HP:0005772) | 2.30541458 |
| 35 | Abnormal spermatogenesis (HP:0008669) | 2.25800721 |
| 36 | Supernumerary spleens (HP:0009799) | 2.25634931 |
| 37 | Nephrogenic diabetes insipidus (HP:0009806) | 2.22713611 |
| 38 | Congenital hepatic fibrosis (HP:0002612) | 2.21284096 |
| 39 | Absent septum pellucidum (HP:0001331) | 2.15175506 |
| 40 | Pancreatic cysts (HP:0001737) | 2.14848382 |
| 41 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 2.13666410 |
| 42 | Facial cleft (HP:0002006) | 2.13418333 |
| 43 | Poor coordination (HP:0002370) | 2.07839729 |
| 44 | Papillary thyroid carcinoma (HP:0002895) | 2.07726470 |
| 45 | Osteomalacia (HP:0002749) | 2.06164530 |
| 46 | Abnormality of permanent molar morphology (HP:0011071) | 2.05391215 |
| 47 | Abnormality of the dental root (HP:0006486) | 2.05391215 |
| 48 | Taurodontia (HP:0000679) | 2.05391215 |
| 49 | Genital tract atresia (HP:0001827) | 2.03666867 |
| 50 | Recurrent bronchitis (HP:0002837) | 2.02748214 |
| 51 | Cystic liver disease (HP:0006706) | 2.01962218 |
| 52 | Tubulointerstitial abnormality (HP:0001969) | 2.00749588 |
| 53 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 13.8400618 |
| 54 | Abnormal respiratory motile cilium physiology (HP:0012261) | 11.2244852 |
| 55 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 11.1680975 |
| 56 | Absent/shortened dynein arms (HP:0200106) | 11.1680975 |
| 57 | Abnormal ciliary motility (HP:0012262) | 10.2674114 |
| 58 | Postaxial hand polydactyly (HP:0001162) | 1.98612693 |
| 59 | Impulsivity (HP:0100710) | 1.97614686 |
| 60 | Abnormality of the dental pulp (HP:0006479) | 1.94985296 |
| 61 | Occipital encephalocele (HP:0002085) | 1.92836165 |
| 62 | Tubular atrophy (HP:0000092) | 1.92498305 |
| 63 | Abnormality of molar (HP:0011077) | 1.92098842 |
| 64 | Abnormality of molar morphology (HP:0011070) | 1.92098842 |
| 65 | Vaginal atresia (HP:0000148) | 1.90215229 |
| 66 | Lip pit (HP:0100267) | 1.86739290 |
| 67 | Maternal diabetes (HP:0009800) | 1.85944246 |
| 68 | Abnormality of the septum pellucidum (HP:0007375) | 1.84878474 |
| 69 | Stage 5 chronic kidney disease (HP:0003774) | 1.82668317 |
| 70 | Oculomotor apraxia (HP:0000657) | 1.82184184 |
| 71 | Azoospermia (HP:0000027) | 1.81937161 |
| 72 | Furrowed tongue (HP:0000221) | 1.78994950 |
| 73 | Aplasia/Hypoplasia of the fibula (HP:0006492) | 1.77029955 |
| 74 | Anterior segment dysgenesis (HP:0007700) | 1.76243740 |
| 75 | Abnormality of dentin (HP:0010299) | 1.72520891 |
| 76 | Microglossia (HP:0000171) | 1.69750633 |
| 77 | Optic nerve hypoplasia (HP:0000609) | 1.69294959 |
| 78 | Abnormal biliary tract physiology (HP:0012439) | 1.69004117 |
| 79 | Bile duct proliferation (HP:0001408) | 1.69004117 |
| 80 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.67349026 |
| 81 | Oligodactyly (HP:0012165) | 1.67261738 |
| 82 | Hypoplasia of the fovea (HP:0007750) | 1.65692909 |
| 83 | Aplasia/Hypoplasia of the fovea (HP:0008060) | 1.65692909 |
| 84 | Hypophosphatemic rickets (HP:0004912) | 1.65555452 |
| 85 | Bifid tongue (HP:0010297) | 1.65233578 |
| 86 | Chronic otitis media (HP:0000389) | 1.62788590 |
| 87 | Narrow forehead (HP:0000341) | 1.60104992 |
| 88 | Hyperactive renin-angiotensin system (HP:0000841) | 1.60001507 |
| 89 | Anencephaly (HP:0002323) | 1.57811122 |
| 90 | Gonadotropin excess (HP:0000837) | 1.55350341 |
| 91 | Chronic hepatic failure (HP:0100626) | 1.55135598 |
| 92 | Abnormality of the fovea (HP:0000493) | 1.51286565 |
| 93 | Abnormality of the lower motor neuron (HP:0002366) | 1.49976826 |
| 94 | Bony spicule pigmentary retinopathy (HP:0007737) | 1.48457202 |
| 95 | Cone-rod dystrophy (HP:0000548) | 1.47993612 |
| 96 | Prominent nasal bridge (HP:0000426) | 1.47674427 |
| 97 | Renal dysplasia (HP:0000110) | 1.46696249 |
| 98 | Amyotrophic lateral sclerosis (HP:0007354) | 1.45676256 |
| 99 | Multicystic kidney dysplasia (HP:0000003) | 1.44139796 |
| 100 | Abnormality of the labia (HP:0000058) | 1.43452011 |
| 101 | Short ribs (HP:0000773) | 1.43082027 |
| 102 | Short nail (HP:0001799) | 1.42655306 |
| 103 | Retinal dysplasia (HP:0007973) | 1.42597345 |
| 104 | Anophthalmia (HP:0000528) | 1.42514597 |
| 105 | Decreased central vision (HP:0007663) | 1.42062889 |
| 106 | Hypoplastic labia majora (HP:0000059) | 1.41882730 |
| 107 | Fair hair (HP:0002286) | 1.41469593 |
| 108 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.41332981 |
| 109 | Male pseudohermaphroditism (HP:0000037) | 1.40785523 |
| 110 | Preaxial hand polydactyly (HP:0001177) | 1.38069670 |
| 111 | Bicornuate uterus (HP:0000813) | 1.37925438 |
| 112 | Abnormality of the renal cortex (HP:0011035) | 1.37922042 |
| 113 | Holoprosencephaly (HP:0001360) | 1.37129862 |
| 114 | Tubulointerstitial fibrosis (HP:0005576) | 1.37116852 |
| 115 | Highly arched eyebrow (HP:0002553) | 1.36680494 |
| 116 | Ventricular fibrillation (HP:0001663) | 1.29501690 |
| 117 | Sclerocornea (HP:0000647) | 1.29462590 |
| 118 | Nephropathy (HP:0000112) | 1.26527064 |
| 119 | 11 pairs of ribs (HP:0000878) | 1.22750231 |
| 120 | Polydipsia (HP:0001959) | 1.22527897 |
| 121 | Abnormal drinking behavior (HP:0030082) | 1.22527897 |
| 122 | Abnormality of renal excretion (HP:0011036) | 1.21619715 |
| 123 | Broad distal phalanx of finger (HP:0009836) | 1.21182484 |
| 124 | Atelectasis (HP:0100750) | 1.21117440 |
| 125 | Broad foot (HP:0001769) | 1.20285721 |
| 126 | Dental crowding (HP:0000678) | 1.20262123 |
| 127 | Bell-shaped thorax (HP:0001591) | 1.18884230 |
| 128 | Abnormality of macular pigmentation (HP:0008002) | 1.16419832 |
| 129 | Retinitis pigmentosa (HP:0000510) | 1.14261335 |
| 130 | J-shaped sella turcica (HP:0002680) | 1.13691686 |
| 131 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.12853832 |
| 132 | Hypodontia (HP:0000668) | 1.11666325 |
| 133 | Aganglionic megacolon (HP:0002251) | 1.11260681 |
| 134 | Transposition of the great arteries (HP:0001669) | 1.10423054 |
| 135 | Abnormal connection of the cardiac segments (HP:0011545) | 1.10423054 |
| 136 | Abnormal ventriculo-arterial connection (HP:0011563) | 1.10423054 |
| 137 | Short thorax (HP:0010306) | 1.07946486 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK4 | 8.18441555 |
| 2 | PDK3 | 8.18441555 |
| 3 | PDK2 | 5.32419131 |
| 4 | PNCK | 4.06832184 |
| 5 | MAPK15 | 3.54720775 |
| 6 | TESK1 | 3.10380223 |
| 7 | ARAF | 2.86968449 |
| 8 | PRKD3 | 2.82168155 |
| 9 | MAP4K2 | 2.63790677 |
| 10 | MAP3K9 | 2.49655214 |
| 11 | STK39 | 2.45045380 |
| 12 | CDK19 | 2.44155210 |
| 13 | TNIK | 2.25787888 |
| 14 | MET | 2.18837287 |
| 15 | WNK4 | 2.17668788 |
| 16 | STK24 | 2.15520526 |
| 17 | CDK9 | 2.04437191 |
| 18 | PTK2B | 2.00777713 |
| 19 | ICK | 1.94256957 |
| 20 | WEE1 | 1.76237141 |
| 21 | NEK2 | 1.66053747 |
| 22 | MAP3K13 | 1.61683703 |
| 23 | BMPR1B | 1.59734894 |
| 24 | ZAK | 1.55878827 |
| 25 | WNK3 | 1.50318925 |
| 26 | DYRK3 | 1.49755968 |
| 27 | MAPKAPK3 | 1.47003882 |
| 28 | TRIM28 | 1.40076964 |
| 29 | NEK9 | 1.39230859 |
| 30 | FRK | 1.35108300 |
| 31 | TAOK3 | 1.33442945 |
| 32 | MOS | 1.32586266 |
| 33 | LATS1 | 1.24734762 |
| 34 | IRAK1 | 1.24394343 |
| 35 | STK38 | 1.16069338 |
| 36 | RAF1 | 1.15810584 |
| 37 | EIF2AK3 | 1.12730594 |
| 38 | TSSK6 | 1.12148219 |
| 39 | NUAK1 | 1.08074927 |
| 40 | NTRK2 | 1.04032086 |
| 41 | MAPK13 | 1.00197908 |
| 42 | TLK1 | 0.98137462 |
| 43 | PLK4 | 0.97662777 |
| 44 | INSRR | 0.96716965 |
| 45 | ACVR1B | 0.96170429 |
| 46 | PLK2 | 0.93970628 |
| 47 | KSR2 | 0.92823661 |
| 48 | PINK1 | 0.92168200 |
| 49 | LMTK2 | 0.91551724 |
| 50 | BCR | 0.90181945 |
| 51 | WNK1 | 0.88514728 |
| 52 | TTK | 0.87702937 |
| 53 | STK38L | 0.86594513 |
| 54 | CDK12 | 0.86458117 |
| 55 | STK3 | 0.85149074 |
| 56 | BRD4 | 0.83834661 |
| 57 | CDK3 | 0.82297043 |
| 58 | CHEK2 | 0.80555919 |
| 59 | BRSK2 | 0.79840113 |
| 60 | KSR1 | 0.79522847 |
| 61 | GRK1 | 0.79138546 |
| 62 | BUB1 | 0.78484381 |
| 63 | OXSR1 | 0.72489284 |
| 64 | ERBB3 | 0.72473230 |
| 65 | CCNB1 | 0.71321600 |
| 66 | PDK1 | 0.71058022 |
| 67 | TYRO3 | 0.70700071 |
| 68 | PRKCG | 0.69220063 |
| 69 | TGFBR1 | 0.67199121 |
| 70 | TIE1 | 0.67158799 |
| 71 | CASK | 0.63602267 |
| 72 | PAK2 | 0.62400935 |
| 73 | MKNK2 | 0.61845205 |
| 74 | CDK8 | 0.58755238 |
| 75 | DYRK1B | 0.55052943 |
| 76 | MST4 | 0.54816029 |
| 77 | CDK7 | 0.54589231 |
| 78 | MELK | 0.53812435 |
| 79 | PLK1 | 0.53496889 |
| 80 | AURKA | 0.50805706 |
| 81 | MAP3K2 | 0.50671616 |
| 82 | NTRK3 | 0.49217310 |
| 83 | AKT3 | 0.47656053 |
| 84 | CHEK1 | 0.46171327 |
| 85 | MAP2K7 | 0.46055251 |
| 86 | CAMK1G | 0.43961129 |
| 87 | CAMKK1 | 0.43604311 |
| 88 | NEK6 | 0.43193464 |
| 89 | NME1 | 0.42979566 |
| 90 | PLK3 | 0.42944282 |
| 91 | CDC7 | 0.42161844 |
| 92 | CSNK1G3 | 0.41569961 |
| 93 | DMPK | 0.39927043 |
| 94 | CHUK | 0.39266972 |
| 95 | MUSK | 0.39020653 |
| 96 | PBK | 0.38823496 |
| 97 | AKT2 | 0.38157344 |
| 98 | CDK2 | 0.37739166 |
| 99 | EPHA4 | 0.37322283 |
| 100 | PHKG1 | 0.36713439 |
| 101 | PHKG2 | 0.36713439 |
| 102 | CDK1 | 0.36619669 |
| 103 | MARK1 | 0.36001493 |
| 104 | CSNK1A1L | 0.35110000 |
| 105 | MAP2K2 | 0.34990978 |
| 106 | STK10 | 0.34214266 |
| 107 | STK16 | 0.33802366 |
| 108 | PRKACB | 0.33457337 |
| 109 | MAP3K4 | 0.32745636 |
| 110 | TESK2 | 0.31524424 |
| 111 | PRKAA1 | 0.30437558 |
| 112 | PAK1 | 0.29897976 |
| 113 | ATM | 0.28865984 |
| 114 | VRK1 | 0.28805519 |
| 115 | BRSK1 | 0.28612871 |
| 116 | IRAK2 | 0.26289811 |
| 117 | PASK | 0.25071010 |
| 118 | PDPK1 | 0.24432703 |
| 119 | CAMK2B | 0.23320740 |
| 120 | ATR | 0.22672928 |
| 121 | MAPK10 | 0.22661303 |
| 122 | CAMK2A | 0.22611677 |
| 123 | GSK3A | 0.22452635 |
| 124 | MARK3 | 0.21743226 |
| 125 | PRKG1 | 0.20983168 |
| 126 | CSNK1E | 0.20568680 |
| 127 | GRK5 | 0.18963289 |
| 128 | CAMKK2 | 0.18740032 |
| 129 | CAMK2G | 0.17755430 |
| 130 | BRAF | 0.17570087 |
| 131 | SRPK1 | 0.17068913 |
| 132 | DYRK1A | 0.16790874 |
| 133 | AURKB | 0.16629992 |
| 134 | CSNK1G1 | 0.15780082 |
| 135 | CSNK1G2 | 0.15535700 |
| 136 | YES1 | 0.14726749 |
| 137 | PRKACA | 0.13677152 |
| 138 | RIPK4 | 0.13563392 |
| 139 | LATS2 | 0.13515603 |
| 140 | STK11 | 0.13391866 |
| 141 | PRKACG | 0.13331489 |
| 142 | MAPKAPK5 | 0.13114647 |
| 143 | DYRK2 | 0.12844401 |
| 144 | PRKCI | 0.12356073 |
| 145 | CSNK1D | 0.12330041 |
| 146 | CSNK2A1 | 0.11830786 |
| 147 | PRKAA2 | 0.11583408 |
| 148 | CAMK2D | 0.11412241 |
| 149 | PKN1 | 0.11180646 |
| 150 | PAK3 | 0.10984051 |
| 151 | CSNK2A2 | 0.10033244 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 7.18277466 |
| 2 | Basal transcription factors_Homo sapiens_hsa03022 | 2.95917443 |
| 3 | Pyruvate metabolism_Homo sapiens_hsa00620 | 2.95424991 |
| 4 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 2.73575332 |
| 5 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 2.65969454 |
| 6 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 2.48985422 |
| 7 | Olfactory transduction_Homo sapiens_hsa04740 | 2.48455166 |
| 8 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.43748756 |
| 9 | Caffeine metabolism_Homo sapiens_hsa00232 | 2.41119386 |
| 10 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 2.40843403 |
| 11 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 2.26423867 |
| 12 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 2.19715212 |
| 13 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 2.18992984 |
| 14 | Huntingtons disease_Homo sapiens_hsa05016 | 2.18990828 |
| 15 | Amphetamine addiction_Homo sapiens_hsa05031 | 2.02216874 |
| 16 | Oocyte meiosis_Homo sapiens_hsa04114 | 2.02090602 |
| 17 | Mismatch repair_Homo sapiens_hsa03430 | 1.89394614 |
| 18 | ABC transporters_Homo sapiens_hsa02010 | 1.86988968 |
| 19 | RNA degradation_Homo sapiens_hsa03018 | 1.79068562 |
| 20 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.74624439 |
| 21 | Purine metabolism_Homo sapiens_hsa00230 | 1.71586519 |
| 22 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.64805730 |
| 23 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.57731602 |
| 24 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.57423394 |
| 25 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.57018688 |
| 26 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.53414161 |
| 27 | Mineral absorption_Homo sapiens_hsa04978 | 1.52196616 |
| 28 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.49771462 |
| 29 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.48691327 |
| 30 | Gap junction_Homo sapiens_hsa04540 | 1.46935108 |
| 31 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.44447592 |
| 32 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.38427305 |
| 33 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 1.37011036 |
| 34 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.36809632 |
| 35 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.34398544 |
| 36 | Renin secretion_Homo sapiens_hsa04924 | 1.31491237 |
| 37 | RNA transport_Homo sapiens_hsa03013 | 1.31478498 |
| 38 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.29938715 |
| 39 | Steroid biosynthesis_Homo sapiens_hsa00100 | 1.29423919 |
| 40 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.24349635 |
| 41 | Histidine metabolism_Homo sapiens_hsa00340 | 1.24099514 |
| 42 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.20968581 |
| 43 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.15004407 |
| 44 | Taste transduction_Homo sapiens_hsa04742 | 1.10228308 |
| 45 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.06305862 |
| 46 | Phototransduction_Homo sapiens_hsa04744 | 1.06240272 |
| 47 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 1.05087370 |
| 48 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 1.03217084 |
| 49 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.02640664 |
| 50 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.01975356 |
| 51 | Long-term potentiation_Homo sapiens_hsa04720 | 1.01531640 |
| 52 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.00597656 |
| 53 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.99736084 |
| 54 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.98911057 |
| 55 | Insulin secretion_Homo sapiens_hsa04911 | 0.98100683 |
| 56 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.97486587 |
| 57 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.96996204 |
| 58 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.94495610 |
| 59 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.94060306 |
| 60 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.93504197 |
| 61 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.93193944 |
| 62 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.93015237 |
| 63 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.92469894 |
| 64 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.90437052 |
| 65 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.88389039 |
| 66 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.86954071 |
| 67 | Circadian entrainment_Homo sapiens_hsa04713 | 0.86884927 |
| 68 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.86109269 |
| 69 | RNA polymerase_Homo sapiens_hsa03020 | 0.83868261 |
| 70 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.83151795 |
| 71 | GABAergic synapse_Homo sapiens_hsa04727 | 0.82834572 |
| 72 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.82418782 |
| 73 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.81455784 |
| 74 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.81295104 |
| 75 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.80880176 |
| 76 | Circadian rhythm_Homo sapiens_hsa04710 | 0.80337185 |
| 77 | Carbon metabolism_Homo sapiens_hsa01200 | 0.80198489 |
| 78 | Salivary secretion_Homo sapiens_hsa04970 | 0.79843735 |
| 79 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.79291250 |
| 80 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.79047780 |
| 81 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.77370991 |
| 82 | Nicotine addiction_Homo sapiens_hsa05033 | 0.77107507 |
| 83 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.73994292 |
| 84 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.73409648 |
| 85 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.72013398 |
| 86 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.72010081 |
| 87 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.71480245 |
| 88 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.71137880 |
| 89 | Morphine addiction_Homo sapiens_hsa05032 | 0.70021433 |
| 90 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.69656707 |
| 91 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.69543123 |
| 92 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.67441607 |
| 93 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.65683285 |
| 94 | Homologous recombination_Homo sapiens_hsa03440 | 0.65667802 |
| 95 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.65501428 |
| 96 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.64805810 |
| 97 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.64492538 |
| 98 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.64467284 |
| 99 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.63640016 |
| 100 | Cocaine addiction_Homo sapiens_hsa05030 | 0.63545860 |
| 101 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 0.62555764 |
| 102 | Cell cycle_Homo sapiens_hsa04110 | 0.60428321 |
| 103 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.59491725 |
| 104 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.59161762 |
| 105 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.58332008 |
| 106 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.58070212 |
| 107 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.57667579 |
| 108 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.57352763 |
| 109 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.56370117 |
| 110 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.54601900 |
| 111 | Tight junction_Homo sapiens_hsa04530 | 0.52894714 |
| 112 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.52654403 |
| 113 | Peroxisome_Homo sapiens_hsa04146 | 0.52575718 |
| 114 | Base excision repair_Homo sapiens_hsa03410 | 0.51072823 |
| 115 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.51033931 |
| 116 | Metabolic pathways_Homo sapiens_hsa01100 | 0.50884473 |
| 117 | Retinol metabolism_Homo sapiens_hsa00830 | 0.48385927 |
| 118 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.47582312 |
| 119 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.47183276 |
| 120 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.46025063 |
| 121 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.45710205 |
| 122 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.44315104 |
| 123 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.42678183 |
| 124 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.42435967 |
| 125 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.42385649 |
| 126 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.42107885 |
| 127 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.41504274 |
| 128 | Adherens junction_Homo sapiens_hsa04520 | 0.41214517 |
| 129 | Parkinsons disease_Homo sapiens_hsa05012 | 0.40992070 |
| 130 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.40692005 |
| 131 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 0.39857672 |
| 132 | Alcoholism_Homo sapiens_hsa05034 | 0.39476788 |
| 133 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.38602529 |
| 134 | Bile secretion_Homo sapiens_hsa04976 | 0.37776115 |
| 135 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.37658822 |
| 136 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.36856385 |
| 137 | Protein export_Homo sapiens_hsa03060 | 0.35885056 |
| 138 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.35856316 |
| 139 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.35274520 |
| 140 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.34968584 |
| 141 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.32067258 |
| 142 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.31377851 |
| 143 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.31077990 |
| 144 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.30104603 |
| 145 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.29791275 |
| 146 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.28593305 |
| 147 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.28433987 |

