

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | cell wall macromolecule catabolic process (GO:0016998) | 9.90070600 |
| 2 | cell wall macromolecule metabolic process (GO:0044036) | 9.90070600 |
| 3 | motile cilium assembly (GO:0044458) | 9.56263612 |
| 4 | plasma membrane fusion (GO:0045026) | 9.28861716 |
| 5 | cell-cell recognition (GO:0009988) | 9.10845065 |
| 6 | binding of sperm to zona pellucida (GO:0007339) | 9.05398877 |
| 7 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 8.86395967 |
| 8 | regulation of cilium movement (GO:0003352) | 8.69187944 |
| 9 | spermatid development (GO:0007286) | 8.61969134 |
| 10 | reproduction (GO:0000003) | 8.40099067 |
| 11 | piRNA metabolic process (GO:0034587) | 7.36517292 |
| 12 | male meiosis (GO:0007140) | 7.10999307 |
| 13 | single fertilization (GO:0007338) | 7.00608032 |
| 14 | synaptonemal complex organization (GO:0070193) | 6.60237135 |
| 15 | ventricular system development (GO:0021591) | 6.59617887 |
| 16 | sperm capacitation (GO:0048240) | 6.57076958 |
| 17 | negative regulation of inclusion body assembly (GO:0090084) | 6.55101580 |
| 18 | axoneme assembly (GO:0035082) | 6.32573024 |
| 19 | synaptonemal complex assembly (GO:0007130) | 6.05079682 |
| 20 | fertilization (GO:0009566) | 6.04292006 |
| 21 | spermatogenesis (GO:0007283) | 5.80247919 |
| 22 | male gamete generation (GO:0048232) | 5.77747178 |
| 23 | organic cation transport (GO:0015695) | 5.67340872 |
| 24 | primary alcohol catabolic process (GO:0034310) | 5.64369449 |
| 25 | regulation of inclusion body assembly (GO:0090083) | 5.54021790 |
| 26 | regulation of microtubule-based movement (GO:0060632) | 5.41501063 |
| 27 | gamete generation (GO:0007276) | 5.31407441 |
| 28 | calcium ion-dependent exocytosis (GO:0017156) | 5.17882272 |
| 29 | vitamin transmembrane transport (GO:0035461) | 5.14060050 |
| 30 | microtubule severing (GO:0051013) | 5.13910352 |
| 31 | male meiosis I (GO:0007141) | 4.85649406 |
| 32 | ethanol metabolic process (GO:0006067) | 4.81112508 |
| 33 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.80145676 |
| 34 | germ cell development (GO:0007281) | 4.79698261 |
| 35 | protein localization to cilium (GO:0061512) | 4.68613304 |
| 36 | microtubule polymerization or depolymerization (GO:0031109) | 4.68234963 |
| 37 | intraciliary transport (GO:0042073) | 4.66751193 |
| 38 | cell recognition (GO:0008037) | 4.66154111 |
| 39 | DNA methylation involved in gamete generation (GO:0043046) | 4.59038184 |
| 40 | diterpenoid biosynthetic process (GO:0016102) | 4.52781417 |
| 41 | left/right pattern formation (GO:0060972) | 4.50482202 |
| 42 | one-carbon compound transport (GO:0019755) | 4.48911769 |
| 43 | centriole replication (GO:0007099) | 4.29464451 |
| 44 | microtubule depolymerization (GO:0007019) | 4.27205234 |
| 45 | lung epithelium development (GO:0060428) | 4.23673002 |
| 46 | multicellular organismal reproductive process (GO:0048609) | 4.22405117 |
| 47 | glomerular epithelial cell development (GO:0072310) | 4.20587381 |
| 48 | cilium organization (GO:0044782) | 4.18902830 |
| 49 | nucleoside diphosphate phosphorylation (GO:0006165) | 4.16693890 |
| 50 | response to xenobiotic stimulus (GO:0009410) | 4.14977051 |
| 51 | establishment of apical/basal cell polarity (GO:0035089) | 4.11345682 |
| 52 | regulation of interleukin-5 production (GO:0032674) | 4.08112680 |
| 53 | protein polyglutamylation (GO:0018095) | 4.03007875 |
| 54 | cilium assembly (GO:0042384) | 4.00235325 |
| 55 | negative regulation of T cell differentiation in thymus (GO:0033085) | 3.96880192 |
| 56 | chromosome organization involved in meiosis (GO:0070192) | 3.96356985 |
| 57 | pyrimidine-containing compound transmembrane transport (GO:0072531) | 3.91415700 |
| 58 | GTP biosynthetic process (GO:0006183) | 3.88655334 |
| 59 | glycerol ether metabolic process (GO:0006662) | 3.87662204 |
| 60 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 3.81985566 |
| 61 | cilium morphogenesis (GO:0060271) | 3.80030692 |
| 62 | meiotic nuclear division (GO:0007126) | 3.76268542 |
| 63 | seminiferous tubule development (GO:0072520) | 3.74576198 |
| 64 | establishment or maintenance of monopolar cell polarity (GO:0061339) | 3.73659830 |
| 65 | establishment of monopolar cell polarity (GO:0061162) | 3.73659830 |
| 66 | meiosis I (GO:0007127) | 3.71234732 |
| 67 | spermatid nucleus differentiation (GO:0007289) | 3.69210998 |
| 68 | cellular component assembly involved in morphogenesis (GO:0010927) | 3.67897902 |
| 69 | microtubule-based movement (GO:0007018) | 3.66306358 |
| 70 | ethanol oxidation (GO:0006069) | 3.63213980 |
| 71 | tolerance induction (GO:0002507) | 3.62827786 |
| 72 | left/right axis specification (GO:0070986) | 3.58623710 |
| 73 | phosphatidylethanolamine metabolic process (GO:0046337) | 3.58333534 |
| 74 | regulation of interleukin-13 production (GO:0032656) | 3.58123658 |
| 75 | ether metabolic process (GO:0018904) | 3.56552149 |
| 76 | lateral ventricle development (GO:0021670) | 3.54239969 |
| 77 | retinoic acid metabolic process (GO:0042573) | 3.46807373 |
| 78 | negative regulation of B cell mediated immunity (GO:0002713) | 3.42136049 |
| 79 | negative regulation of immunoglobulin mediated immune response (GO:0002890) | 3.42136049 |
| 80 | genitalia morphogenesis (GO:0035112) | 3.38459994 |
| 81 | establishment of tissue polarity (GO:0007164) | 3.37331648 |
| 82 | establishment of planar polarity (GO:0001736) | 3.37331648 |
| 83 | terpenoid biosynthetic process (GO:0016114) | 3.36479359 |
| 84 | UTP biosynthetic process (GO:0006228) | 3.33917094 |
| 85 | negative regulation of humoral immune response (GO:0002921) | 3.32828531 |
| 86 | meiotic cell cycle (GO:0051321) | 3.31030506 |
| 87 | lactate metabolic process (GO:0006089) | 3.29347929 |
| 88 | cytoplasmic microtubule organization (GO:0031122) | 3.28031242 |
| 89 | multicellular organismal development (GO:0007275) | 3.25923748 |
| 90 | microtubule bundle formation (GO:0001578) | 3.22385093 |
| 91 | protein refolding (GO:0042026) | 3.19941688 |
| 92 | nonmotile primary cilium assembly (GO:0035058) | 3.19231333 |
| 93 | chaperone-mediated protein complex assembly (GO:0051131) | 3.15537694 |
| 94 | determination of left/right symmetry (GO:0007368) | 3.13048885 |
| 95 | exogenous drug catabolic process (GO:0042738) | 3.12876863 |
| 96 | response to pheromone (GO:0019236) | 3.10003156 |
| 97 | UTP metabolic process (GO:0046051) | 3.05628528 |
| 98 | determination of bilateral symmetry (GO:0009855) | 2.98233450 |
| 99 | regulation of germinal center formation (GO:0002634) | 2.92470036 |
| 100 | positive regulation of smoothened signaling pathway (GO:0045880) | 2.91831992 |
| 101 | oxygen transport (GO:0015671) | 2.91074582 |
| 102 | specification of symmetry (GO:0009799) | 2.90643489 |
| 103 | retinal rod cell development (GO:0046548) | 2.88429678 |
| 104 | negative regulation of toll-like receptor 4 signaling pathway (GO:0034144) | 2.86612265 |
| 105 | single strand break repair (GO:0000012) | 2.84777437 |
| 106 | amino-acid betaine transport (GO:0015838) | 2.83115592 |
| 107 | carnitine transport (GO:0015879) | 2.83115592 |
| 108 | organelle assembly (GO:0070925) | 2.81408845 |
| 109 | glutathione derivative metabolic process (GO:1901685) | 2.80078533 |
| 110 | glutathione derivative biosynthetic process (GO:1901687) | 2.80078533 |
| 111 | photoreceptor cell maintenance (GO:0045494) | 2.78876150 |
| 112 | regulation of cilium assembly (GO:1902017) | 2.78030669 |
| 113 | microtubule-based process (GO:0007017) | 2.77387496 |
| 114 | carnitine transmembrane transport (GO:1902603) | 2.76805954 |
| 115 | calcium ion import (GO:0070509) | 2.73773631 |
| 116 | protein K11-linked deubiquitination (GO:0035871) | 2.72584032 |
| 117 | cellular ketone body metabolic process (GO:0046950) | 2.71258840 |
| 118 | positive regulation of tolerance induction (GO:0002645) | 2.70190341 |
| 119 | phosphatidylcholine biosynthetic process (GO:0006656) | 2.69187480 |
| 120 | retinol metabolic process (GO:0042572) | 2.68628977 |
| 121 | peptidyl-glutamic acid modification (GO:0018200) | 2.67590746 |
| 122 | guanosine-containing compound biosynthetic process (GO:1901070) | 2.66811532 |
| 123 | drug catabolic process (GO:0042737) | 2.64808287 |
| 124 | O-glycan processing (GO:0016266) | 2.63275452 |
| 125 | establishment of protein localization to Golgi (GO:0072600) | 2.63173346 |
| 126 | polyol catabolic process (GO:0046174) | 2.62149939 |
| 127 | primary alcohol metabolic process (GO:0034308) | 2.61891590 |
| 128 | aldehyde catabolic process (GO:0046185) | 2.61791326 |
| 129 | excretion (GO:0007588) | 2.61309643 |
| 130 | negative regulation of organelle assembly (GO:1902116) | 2.60236002 |
| 131 | chromosome condensation (GO:0030261) | 2.59708512 |
| 132 | cell projection assembly (GO:0030031) | 2.59318346 |
| 133 | DNA packaging (GO:0006323) | 2.57484725 |
| 134 | glycolytic process (GO:0006096) | 2.57084081 |
| 135 | sexual reproduction (GO:0019953) | 2.56089446 |
| 136 | monoubiquitinated protein deubiquitination (GO:0035520) | 2.45366374 |
| 137 | centriole assembly (GO:0098534) | 2.44501152 |
| 138 | alditol metabolic process (GO:0019400) | 2.41064817 |
| 139 | CTP metabolic process (GO:0046036) | 2.39724580 |
| 140 | CTP biosynthetic process (GO:0006241) | 2.39724580 |
| 141 | cell redox homeostasis (GO:0045454) | 2.37406901 |
| 142 | synapsis (GO:0007129) | 2.36170382 |
| 143 | smoothened signaling pathway (GO:0007224) | 2.35841872 |
| 144 | membrane depolarization during action potential (GO:0086010) | 2.34664112 |
| 145 | regulation of acrosome reaction (GO:0060046) | 2.30847745 |
| 146 | regulation of meiosis I (GO:0060631) | 2.29184258 |
| 147 | cilium or flagellum-dependent cell motility (GO:0001539) | 13.0102349 |
| 148 | fusion of sperm to egg plasma membrane (GO:0007342) | 12.2006560 |
| 149 | sperm motility (GO:0030317) | 11.9682064 |
| 150 | axonemal dynein complex assembly (GO:0070286) | 11.5017052 |
| 151 | epithelial cilium movement (GO:0003351) | 10.9770565 |
| 152 | cilium movement (GO:0003341) | 10.4980565 |
| 153 | acrosome reaction (GO:0007340) | 10.3067554 |
| 154 | sperm-egg recognition (GO:0035036) | 10.1048720 |
| 155 | multicellular organism reproduction (GO:0032504) | 10.0695895 |
| 156 | acrosome assembly (GO:0001675) | 10.0630337 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 6.31022378 |
| 2 | EZH2_22144423_ChIP-Seq_EOC_Human | 4.90990045 |
| 3 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.51908637 |
| 4 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 4.34021740 |
| 5 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 3.21915255 |
| 6 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.50845058 |
| 7 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.46502744 |
| 8 | * FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 2.11652227 |
| 9 | VDR_22108803_ChIP-Seq_LS180_Human | 2.10701110 |
| 10 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.01997709 |
| 11 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.99362903 |
| 12 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.95278802 |
| 13 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.94952403 |
| 14 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.94909405 |
| 15 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.89005532 |
| 16 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.88782825 |
| 17 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.80565187 |
| 18 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.77639075 |
| 19 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.73853583 |
| 20 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.68136716 |
| 21 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.67900931 |
| 22 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.65425791 |
| 23 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.64673060 |
| 24 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.59692163 |
| 25 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.59443251 |
| 26 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.58675396 |
| 27 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.57171823 |
| 28 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.53979489 |
| 29 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.53979489 |
| 30 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.52505499 |
| 31 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.52477989 |
| 32 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.52439965 |
| 33 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.51748772 |
| 34 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.51291227 |
| 35 | * ETV1_20927104_ChIP-Seq_GIST48_Human | 1.50966949 |
| 36 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.49590190 |
| 37 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 1.47567980 |
| 38 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.46507624 |
| 39 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.45060343 |
| 40 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.45056163 |
| 41 | STAT1_20625510_ChIP-Seq_HELA_Human | 1.43994757 |
| 42 | * HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.43965091 |
| 43 | * PHF8_20622853_ChIP-Seq_HELA_Human | 1.43602220 |
| 44 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.43434121 |
| 45 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.43144242 |
| 46 | * CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.41912624 |
| 47 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.41777206 |
| 48 | TP63_23658742_ChIP-Seq_EP156T_Human | 1.40531312 |
| 49 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.39844842 |
| 50 | * RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.38734692 |
| 51 | KDM2B_26808549_Chip-Seq_REH_Human | 1.38629618 |
| 52 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.38235444 |
| 53 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.38013153 |
| 54 | STAT3_23295773_ChIP-Seq_U87_Human | 1.37293289 |
| 55 | * RBPJ_21746931_ChIP-Seq_IB4_Human | 1.36309578 |
| 56 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.35244213 |
| 57 | * SMC4_20622854_ChIP-Seq_HELA_Human | 1.33054785 |
| 58 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.32722159 |
| 59 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.32412842 |
| 60 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.32165686 |
| 61 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.32165686 |
| 62 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.32087337 |
| 63 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.31565521 |
| 64 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 1.31502843 |
| 65 | * CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.31385092 |
| 66 | FUS_26573619_Chip-Seq_HEK293_Human | 1.30194978 |
| 67 | * PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.30008506 |
| 68 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.28766901 |
| 69 | * TP63_22573176_ChIP-Seq_HFKS_Human | 1.28297146 |
| 70 | * CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.27717582 |
| 71 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.27663480 |
| 72 | GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.27376377 |
| 73 | * PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 1.27210869 |
| 74 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.27092695 |
| 75 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 1.26363202 |
| 76 | * NFYA_21822215_ChIP-Seq_K562_Human | 1.25511519 |
| 77 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.25043114 |
| 78 | * SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.24803299 |
| 79 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.24547178 |
| 80 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.24172305 |
| 81 | * TBL1_22424771_ChIP-Seq_293T_Human | 1.23570724 |
| 82 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.23269157 |
| 83 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.22928642 |
| 84 | KLF5_25053715_ChIP-Seq_YYC3_Human | 1.21190143 |
| 85 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.21052279 |
| 86 | * GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.20762794 |
| 87 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.20671327 |
| 88 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.20260506 |
| 89 | P53_22387025_ChIP-Seq_ESCs_Mouse | 1.19847402 |
| 90 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 1.19834623 |
| 91 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.19782450 |
| 92 | AR_21915096_ChIP-Seq_LNCaP-1F5_Human | 1.19173180 |
| 93 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.18111007 |
| 94 | ERA_21632823_ChIP-Seq_H3396_Human | 1.18034323 |
| 95 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.17967891 |
| 96 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.17937219 |
| 97 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.17805931 |
| 98 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.17101422 |
| 99 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.17084887 |
| 100 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.16876190 |
| 101 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.16705762 |
| 102 | AR_25329375_ChIP-Seq_VCAP_Human | 1.16559781 |
| 103 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.16213370 |
| 104 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.16180251 |
| 105 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.15667477 |
| 106 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.15667477 |
| 107 | * FOXM1_26456572_ChIP-Seq_MCF-7_Human | 1.15445158 |
| 108 | * SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.15089007 |
| 109 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.15056569 |
| 110 | * SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.14995099 |
| 111 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.14895010 |
| 112 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.14767895 |
| 113 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.13442053 |
| 114 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.13278900 |
| 115 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.13225887 |
| 116 | * GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.13122083 |
| 117 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 1.12881539 |
| 118 | * FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.12729074 |
| 119 | FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human | 1.12397703 |
| 120 | P300_18555785_Chip-Seq_ESCs_Mouse | 1.11164437 |
| 121 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.10999895 |
| 122 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.09389436 |
| 123 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 1.09348582 |
| 124 | * OCT4_18555785_Chip-Seq_ESCs_Mouse | 1.08901554 |
| 125 | LUZP1_20508642_ChIP-Seq_ESCs_Mouse | 1.07999860 |
| 126 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.07480406 |
| 127 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.07404240 |
| 128 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.07310484 |
| 129 | EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 1.06321377 |
| 130 | * RUNX1_27514584_Chip-Seq_MCF-7_Human | 1.05791108 |
| 131 | NCOR_22424771_ChIP-Seq_293T_Human | 1.05707349 |
| 132 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.05392852 |
| 133 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 1.05363028 |
| 134 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 1.05352902 |
| 135 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 1.04391649 |
| 136 | KLF4_18555785_Chip-Seq_ESCs_Mouse | 1.04227900 |
| 137 | GATA3_21867929_ChIP-Seq_TH1_Mouse | 1.04207075 |
| 138 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 1.03667629 |
| 139 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.03660454 |
| 140 | ESRRB_18555785_Chip-Seq_ESCs_Mouse | 1.03427987 |
| 141 | * TCF4_23295773_ChIP-Seq_U87_Human | 1.02971371 |
| 142 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.02810372 |
| 143 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.02537387 |
| 144 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.02326497 |
| 145 | SOX2_18555785_Chip-Seq_ESCs_Mouse | 1.02322644 |
| 146 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 1.01941833 |
| 147 | * CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.01913193 |
| 148 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 1.01841892 |
| 149 | SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 1.01591704 |
| 150 | * P53_21459846_ChIP-Seq_SAOS-2_Human | 1.01223754 |
| 151 | P300_27268052_Chip-Seq_Bcells_Human | 1.00801555 |
| 152 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 0.99506547 |
| 153 | P68_20966046_ChIP-Seq_HELA_Human | 0.99425740 |
| 154 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 0.99400230 |
| 155 | BCAT_22108803_ChIP-Seq_LS180_Human | 0.98888829 |
| 156 | RCOR3_21632747_ChIP-Seq_MESCs_Mouse | 0.98432844 |
| 157 | * SMAD4_21741376_ChIP-Seq_EPCs_Human | 0.98243652 |
| 158 | ER_23166858_ChIP-Seq_MCF-7_Human | 0.97607779 |
| 159 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 0.97450750 |
| 160 | PU1_27457419_Chip-Seq_LIVER_Mouse | 0.97072563 |
| 161 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 0.96793507 |
| 162 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 0.96065946 |
| 163 | E2F1_18555785_Chip-Seq_ESCs_Mouse | 0.95201821 |
| 164 | PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 0.94743878 |
| 165 | CTCF_18555785_Chip-Seq_ESCs_Mouse | 0.94478230 |
| 166 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 0.94172028 |
| 167 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 0.94018279 |
| 168 | * NFYB_21822215_ChIP-Seq_K562_Human | 0.93748258 |
| 169 | GF1B_26923725_Chip-Seq_HPCs_Mouse | 0.93694042 |
| 170 | ZFX_18555785_Chip-Seq_ESCs_Mouse | 0.93586727 |
| 171 | * RUNX1_26923725_Chip-Seq_HPCs_Mouse | 0.93570736 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 5.31636459 |
| 2 | MP0001929_abnormal_gametogenesis | 4.73047252 |
| 3 | MP0002132_abnormal_respiratory_system | 4.16094272 |
| 4 | MP0008877_abnormal_DNA_methylation | 3.48963825 |
| 5 | MP0002653_abnormal_ependyma_morphology | 3.34891072 |
| 6 | MP0002210_abnormal_sex_determination | 2.91402706 |
| 7 | MP0002254_reproductive_system_inflammat | 2.86023530 |
| 8 | MP0002161_abnormal_fertility/fecundity | 2.83823974 |
| 9 | MP0008789_abnormal_olfactory_epithelium | 2.77005468 |
| 10 | MP0000566_synostosis | 2.44897462 |
| 11 | MP0001145_abnormal_male_reproductive | 2.40375652 |
| 12 | MP0002277_abnormal_respiratory_mucosa | 2.39825487 |
| 13 | MP0005645_abnormal_hypothalamus_physiol | 2.36872455 |
| 14 | MP0001984_abnormal_olfaction | 2.32038393 |
| 15 | MP0005670_abnormal_white_adipose | 2.20709413 |
| 16 | MP0000653_abnormal_sex_gland | 2.11457121 |
| 17 | MP0002160_abnormal_reproductive_system | 2.09354325 |
| 18 | MP0000383_abnormal_hair_follicle | 2.00746572 |
| 19 | MP0005410_abnormal_fertilization | 14.0891178 |
| 20 | MP0005623_abnormal_meninges_morphology | 1.98621257 |
| 21 | MP0002876_abnormal_thyroid_physiology | 1.86548439 |
| 22 | MP0005499_abnormal_olfactory_system | 1.85793695 |
| 23 | MP0005394_taste/olfaction_phenotype | 1.85793695 |
| 24 | MP0002168_other_aberrant_phenotype | 1.84041534 |
| 25 | MP0000678_abnormal_parathyroid_gland | 1.81168696 |
| 26 | MP0002282_abnormal_trachea_morphology | 1.60276341 |
| 27 | MP0004019_abnormal_vitamin_homeostasis | 1.55003603 |
| 28 | MP0009046_muscle_twitch | 1.53635973 |
| 29 | MP0010678_abnormal_skin_adnexa | 1.53295951 |
| 30 | MP0002249_abnormal_larynx_morphology | 1.49710682 |
| 31 | MP0005395_other_phenotype | 1.48581853 |
| 32 | MP0001765_abnormal_ion_homeostasis | 1.41808027 |
| 33 | MP0003879_abnormal_hair_cell | 1.40365560 |
| 34 | MP0005647_abnormal_sex_gland | 1.38513822 |
| 35 | MP0005083_abnormal_biliary_tract | 1.37956855 |
| 36 | MP0003183_abnormal_peptide_metabolism | 1.31402045 |
| 37 | MP0001348_abnormal_lacrimal_gland | 1.31158901 |
| 38 | MP0002909_abnormal_adrenal_gland | 1.24405158 |
| 39 | MP0000026_abnormal_inner_ear | 1.19236382 |
| 40 | MP0002928_abnormal_bile_duct | 1.16595184 |
| 41 | MP0003718_maternal_effect | 1.12432678 |
| 42 | MP0005377_hearing/vestibular/ear_phenot | 1.11607501 |
| 43 | MP0003878_abnormal_ear_physiology | 1.11607501 |
| 44 | MP0005389_reproductive_system_phenotype | 1.10516576 |
| 45 | MP0005646_abnormal_pituitary_gland | 1.07457434 |
| 46 | MP0000681_abnormal_thyroid_gland | 1.02188639 |
| 47 | MP0003656_abnormal_erythrocyte_physiolo | 1.00298091 |
| 48 | MP0001346_abnormal_lacrimal_gland | 0.99182579 |
| 49 | MP0008995_early_reproductive_senescence | 0.98125541 |
| 50 | MP0002693_abnormal_pancreas_physiology | 0.97388540 |
| 51 | MP0001501_abnormal_sleep_pattern | 0.96392302 |
| 52 | MP0005248_abnormal_Harderian_gland | 0.94521839 |
| 53 | MP0003646_muscle_fatigue | 0.91005512 |
| 54 | MP0001293_anophthalmia | 0.90490019 |
| 55 | MP0000049_abnormal_middle_ear | 0.90297339 |
| 56 | MP0001486_abnormal_startle_reflex | 0.86427907 |
| 57 | MP0003950_abnormal_plasma_membrane | 0.86034827 |
| 58 | MP0001440_abnormal_grooming_behavior | 0.84867237 |
| 59 | MP0001970_abnormal_pain_threshold | 0.82655547 |
| 60 | MP0002233_abnormal_nose_morphology | 0.82307835 |
| 61 | MP0005195_abnormal_posterior_eye | 0.79975618 |
| 62 | MP0001764_abnormal_homeostasis | 0.79586734 |
| 63 | MP0003136_yellow_coat_color | 0.79074030 |
| 64 | MP0000013_abnormal_adipose_tissue | 0.78035840 |
| 65 | MP0001944_abnormal_pancreas_morphology | 0.75973244 |
| 66 | MP0001502_abnormal_circadian_rhythm | 0.75964783 |
| 67 | MP0005085_abnormal_gallbladder_physiolo | 0.73650730 |
| 68 | MP0001324_abnormal_eye_pigmentation | 0.71610778 |
| 69 | MP0000955_abnormal_spinal_cord | 0.70583287 |
| 70 | MP0003329_amyloid_beta_deposits | 0.70065984 |
| 71 | MP0005310_abnormal_salivary_gland | 0.68739280 |
| 72 | MP0001905_abnormal_dopamine_level | 0.68696397 |
| 73 | MP0002638_abnormal_pupillary_reflex | 0.68219409 |
| 74 | MP0003937_abnormal_limbs/digits/tail_de | 0.68060201 |
| 75 | MP0005636_abnormal_mineral_homeostasis | 0.66882218 |
| 76 | MP0005551_abnormal_eye_electrophysiolog | 0.65539474 |
| 77 | MP0001299_abnormal_eye_distance/ | 0.64835959 |
| 78 | MP0010030_abnormal_orbit_morphology | 0.64793267 |
| 79 | MP0010386_abnormal_urinary_bladder | 0.64779473 |
| 80 | MP0008872_abnormal_physiological_respon | 0.64577965 |
| 81 | MP0002572_abnormal_emotion/affect_behav | 0.64196066 |
| 82 | MP0005253_abnormal_eye_physiology | 0.63482446 |
| 83 | MP0004233_abnormal_muscle_weight | 0.63200476 |
| 84 | MP0005379_endocrine/exocrine_gland_phen | 0.63073080 |
| 85 | MP0002557_abnormal_social/conspecific_i | 0.62497703 |
| 86 | MP0002734_abnormal_mechanical_nocicepti | 0.61333397 |
| 87 | MP0005365_abnormal_bile_salt | 0.60638370 |
| 88 | MP0006072_abnormal_retinal_apoptosis | 0.60497138 |
| 89 | MP0003045_fibrosis | 0.59870305 |
| 90 | MP0002136_abnormal_kidney_physiology | 0.59489969 |
| 91 | MP0001664_abnormal_digestion | 0.59430007 |
| 92 | MP0006276_abnormal_autonomic_nervous | 0.58890558 |
| 93 | MP0002822_catalepsy | 0.58494455 |
| 94 | MP0002735_abnormal_chemical_nociception | 0.57866806 |
| 95 | MP0003959_abnormal_lean_body | 0.56852672 |
| 96 | MP0009643_abnormal_urine_homeostasis | 0.56614249 |
| 97 | MP0001270_distended_abdomen | 0.56572922 |
| 98 | MP0004043_abnormal_pH_regulation | 0.55895320 |
| 99 | MP0000003_abnormal_adipose_tissue | 0.54864618 |
| 100 | MP0005535_abnormal_body_temperature | 0.53796048 |
| 101 | MP0008961_abnormal_basal_metabolism | 0.53770340 |
| 102 | MP0002971_abnormal_brown_adipose | 0.53649337 |
| 103 | MP0002102_abnormal_ear_morphology | 0.52585606 |
| 104 | MP0002067_abnormal_sensory_capabilities | 0.52005098 |
| 105 | MP0001873_stomach_inflammation | 0.51919082 |
| 106 | MP0004742_abnormal_vestibular_system | 0.51763189 |
| 107 | MP0002736_abnormal_nociception_after | 0.50883350 |
| 108 | MP0004085_abnormal_heartbeat | 0.50807634 |
| 109 | MP0002234_abnormal_pharynx_morphology | 0.50675330 |
| 110 | MP0002877_abnormal_melanocyte_morpholog | 0.50060634 |
| 111 | MP0002116_abnormal_craniofacial_bone | 0.49759159 |
| 112 | MP0002752_abnormal_somatic_nervous | 0.49377171 |
| 113 | MP0002272_abnormal_nervous_system | 0.48663694 |
| 114 | MP0005164_abnormal_response_to | 0.48612280 |
| 115 | MP0004270_analgesia | 0.48585117 |
| 116 | MP0000534_abnormal_ureter_morphology | 0.48479978 |
| 117 | MP0009115_abnormal_fat_cell | 0.47565582 |
| 118 | MP0001851_eye_inflammation | 0.47490485 |
| 119 | MP0004858_abnormal_nervous_system | 0.47362764 |
| 120 | MP0003635_abnormal_synaptic_transmissio | 0.46734216 |
| 121 | MP0001968_abnormal_touch/_nociception | 0.46288353 |
| 122 | MP0008875_abnormal_xenobiotic_pharmacok | 0.44625641 |
| 123 | MP0008004_abnormal_stomach_pH | 0.44407380 |
| 124 | MP0003283_abnormal_digestive_organ | 0.44305782 |
| 125 | MP0002063_abnormal_learning/memory/cond | 0.44095669 |
| 126 | MP0003953_abnormal_hormone_level | 0.43373897 |
| 127 | MP0001485_abnormal_pinna_reflex | 0.42362345 |
| 128 | MP0002064_seizures | 0.41541571 |
| 129 | MP0002078_abnormal_glucose_homeostasis | 0.41374546 |
| 130 | MP0004134_abnormal_chest_morphology | 0.39667230 |
| 131 | MP0002139_abnormal_hepatobiliary_system | 0.38487378 |
| 132 | MP0003195_calcinosis | 0.38459341 |
| 133 | MP0001963_abnormal_hearing_physiology | 0.38243170 |
| 134 | MP0000685_abnormal_immune_system | 0.37920629 |
| 135 | MP0003633_abnormal_nervous_system | 0.37713204 |
| 136 | MP0006082_CNS_inflammation | 0.37688933 |
| 137 | MP0002295_abnormal_pulmonary_circulatio | 0.35989705 |
| 138 | MP0004133_heterotaxia | 0.35656974 |
| 139 | MP0009745_abnormal_behavioral_response | 0.35391768 |
| 140 | MP0000631_abnormal_neuroendocrine_gland | 0.35062226 |
| 141 | MP0003699_abnormal_female_reproductive | 0.34403990 |
| 142 | MP0002837_dystrophic_cardiac_calcinosis | 0.33080069 |
| 143 | MP0000604_amyloidosis | 0.33002336 |
| 144 | MP0002229_neurodegeneration | 0.32702186 |
| 145 | MP0009780_abnormal_chondrocyte_physiolo | 0.32648712 |
| 146 | MP0005391_vision/eye_phenotype | 0.32380009 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal respiratory motile cilium physiology (HP:0012261) | 9.96291913 |
| 2 | Abnormal respiratory epithelium morphology (HP:0012253) | 8.95310725 |
| 3 | Abnormal respiratory motile cilium morphology (HP:0005938) | 8.95310725 |
| 4 | Abnormal ciliary motility (HP:0012262) | 8.66952698 |
| 5 | Rhinitis (HP:0012384) | 8.28062466 |
| 6 | Chronic bronchitis (HP:0004469) | 7.56682574 |
| 7 | Nasal polyposis (HP:0100582) | 5.91931153 |
| 8 | Infertility (HP:0000789) | 5.52302559 |
| 9 | Bronchiectasis (HP:0002110) | 4.99856529 |
| 10 | Abnormality of the nasal mucosa (HP:0000433) | 4.86561303 |
| 11 | Nephronophthisis (HP:0000090) | 4.48544527 |
| 12 | Bronchitis (HP:0012387) | 4.44623310 |
| 13 | Abnormality of the renal medulla (HP:0100957) | 3.41780903 |
| 14 | Male infertility (HP:0003251) | 3.28389558 |
| 15 | Recurrent sinusitis (HP:0011108) | 3.24014328 |
| 16 | Abnormality of midbrain morphology (HP:0002418) | 3.19568137 |
| 17 | Molar tooth sign on MRI (HP:0002419) | 3.19568137 |
| 18 | Tubulointerstitial nephritis (HP:0001970) | 3.13958861 |
| 19 | Recurrent otitis media (HP:0000403) | 3.04222398 |
| 20 | Medial flaring of the eyebrow (HP:0010747) | 3.04182032 |
| 21 | Tubular atrophy (HP:0000092) | 2.72188327 |
| 22 | Atelectasis (HP:0100750) | 2.69960800 |
| 23 | Pancreatic fibrosis (HP:0100732) | 2.54899070 |
| 24 | Chronic otitis media (HP:0000389) | 2.53103057 |
| 25 | Tubulointerstitial abnormality (HP:0001969) | 2.51986331 |
| 26 | Hyperactive renin-angiotensin system (HP:0000841) | 2.50937267 |
| 27 | Anencephaly (HP:0002323) | 2.42162215 |
| 28 | Abnormal spermatogenesis (HP:0008669) | 2.37901166 |
| 29 | Recurrent bronchitis (HP:0002837) | 2.36583800 |
| 30 | True hermaphroditism (HP:0010459) | 2.36560541 |
| 31 | Fibular hypoplasia (HP:0003038) | 2.36343185 |
| 32 | Congenital hepatic fibrosis (HP:0002612) | 2.30276385 |
| 33 | Chronic sinusitis (HP:0011109) | 2.27758705 |
| 34 | Postaxial foot polydactyly (HP:0001830) | 2.24776222 |
| 35 | Cystic liver disease (HP:0006706) | 2.18163449 |
| 36 | Sclerocornea (HP:0000647) | 2.14972416 |
| 37 | Male pseudohermaphroditism (HP:0000037) | 2.13170755 |
| 38 | Median cleft lip (HP:0000161) | 2.11049701 |
| 39 | Gait imbalance (HP:0002141) | 2.10949301 |
| 40 | Congenital primary aphakia (HP:0007707) | 2.10857118 |
| 41 | Polydipsia (HP:0001959) | 2.05146079 |
| 42 | Abnormal drinking behavior (HP:0030082) | 2.05146079 |
| 43 | Tubulointerstitial fibrosis (HP:0005576) | 2.04285276 |
| 44 | Stage 5 chronic kidney disease (HP:0003774) | 2.00259217 |
| 45 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 13.0110703 |
| 46 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 11.6229212 |
| 47 | Absent/shortened dynein arms (HP:0200106) | 11.6229212 |
| 48 | Decreased circulating renin level (HP:0003351) | 1.98535512 |
| 49 | Abnormality of dentin (HP:0010299) | 1.90099363 |
| 50 | Abnormality of the renal cortex (HP:0011035) | 1.85241827 |
| 51 | Bile duct proliferation (HP:0001408) | 1.82312007 |
| 52 | Abnormal biliary tract physiology (HP:0012439) | 1.82312007 |
| 53 | Furrowed tongue (HP:0000221) | 1.82258438 |
| 54 | Postaxial hand polydactyly (HP:0001162) | 1.82188396 |
| 55 | Chronic hepatic failure (HP:0100626) | 1.81485797 |
| 56 | Nephrogenic diabetes insipidus (HP:0009806) | 1.80313611 |
| 57 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.79463096 |
| 58 | Oculomotor apraxia (HP:0000657) | 1.77136051 |
| 59 | Taurodontia (HP:0000679) | 1.75215887 |
| 60 | Abnormality of permanent molar morphology (HP:0011071) | 1.75215887 |
| 61 | Abnormality of the dental root (HP:0006486) | 1.75215887 |
| 62 | Aplasia/Hypoplasia of the spleen (HP:0010451) | 1.74895204 |
| 63 | Bell-shaped thorax (HP:0001591) | 1.73413750 |
| 64 | Abnormal rod and cone electroretinograms (HP:0008323) | 1.72707400 |
| 65 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.71912417 |
| 66 | Azoospermia (HP:0000027) | 1.70927249 |
| 67 | Pancreatic cysts (HP:0001737) | 1.69767381 |
| 68 | Occipital encephalocele (HP:0002085) | 1.69515989 |
| 69 | Gonadotropin excess (HP:0000837) | 1.68347727 |
| 70 | Asplenia (HP:0001746) | 1.67217906 |
| 71 | Facial cleft (HP:0002006) | 1.65919169 |
| 72 | Renal salt wasting (HP:0000127) | 1.65615966 |
| 73 | Genital tract atresia (HP:0001827) | 1.64699287 |
| 74 | Abnormality of the dental pulp (HP:0006479) | 1.64411896 |
| 75 | Neurofibrillary tangles (HP:0002185) | 1.62951655 |
| 76 | Abnormality of renal excretion (HP:0011036) | 1.62573497 |
| 77 | Abnormality of molar morphology (HP:0011070) | 1.60405687 |
| 78 | Abnormality of molar (HP:0011077) | 1.60405687 |
| 79 | Cone-rod dystrophy (HP:0000548) | 1.59443142 |
| 80 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.59364394 |
| 81 | Decreased central vision (HP:0007663) | 1.59224478 |
| 82 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 1.58845371 |
| 83 | Abnormal gallbladder physiology (HP:0012438) | 1.58341475 |
| 84 | Cholecystitis (HP:0001082) | 1.58341475 |
| 85 | Impulsivity (HP:0100710) | 1.57046511 |
| 86 | Abnormality of macular pigmentation (HP:0008002) | 1.56960807 |
| 87 | Hyperkalemia (HP:0002153) | 1.56859093 |
| 88 | Nephropathy (HP:0000112) | 1.56494514 |
| 89 | Preaxial hand polydactyly (HP:0001177) | 1.56470736 |
| 90 | Vaginal atresia (HP:0000148) | 1.56156619 |
| 91 | Short ribs (HP:0000773) | 1.51008666 |
| 92 | Poor coordination (HP:0002370) | 1.50645299 |
| 93 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.50578261 |
| 94 | Absent epiphyses (HP:0010577) | 1.50578261 |
| 95 | Severe visual impairment (HP:0001141) | 1.50134321 |
| 96 | Bony spicule pigmentary retinopathy (HP:0007737) | 1.49599824 |
| 97 | Aplasia/Hypoplasia of the fibula (HP:0006492) | 1.47566760 |
| 98 | Hyperaldosteronism (HP:0000859) | 1.45719022 |
| 99 | Abnormality of chloride homeostasis (HP:0011422) | 1.45155462 |
| 100 | Short thorax (HP:0010306) | 1.44735600 |
| 101 | Short nail (HP:0001799) | 1.41974339 |
| 102 | Hypoplasia of dental enamel (HP:0006297) | 1.40679121 |
| 103 | Abnormal urine output (HP:0012590) | 1.38741363 |
| 104 | Renal dysplasia (HP:0000110) | 1.38303061 |
| 105 | J-shaped sella turcica (HP:0002680) | 1.38130480 |
| 106 | Abnormality of renin-angiotensin system (HP:0000847) | 1.37934107 |
| 107 | Hemiparesis (HP:0001269) | 1.33543207 |
| 108 | Abnormality of the lower motor neuron (HP:0002366) | 1.30901999 |
| 109 | Supernumerary spleens (HP:0009799) | 1.30524677 |
| 110 | Cone-shaped epiphyses of the phalanges of the hand (HP:0010230) | 1.29313534 |
| 111 | Congenital malformation of the right heart (HP:0011723) | 1.27918490 |
| 112 | Double outlet right ventricle (HP:0001719) | 1.27918490 |
| 113 | 11 pairs of ribs (HP:0000878) | 1.26797600 |
| 114 | Absent frontal sinuses (HP:0002688) | 1.26284665 |
| 115 | Dyschromatopsia (HP:0007641) | 1.26180202 |
| 116 | Aplasia/Hypoplasia of the frontal sinuses (HP:0009119) | 1.23758166 |
| 117 | Polyuria (HP:0000103) | 1.23669253 |
| 118 | Abnormality of calcium-phosphate metabolism (HP:0100530) | 1.23641629 |
| 119 | Microglossia (HP:0000171) | 1.23206441 |
| 120 | Cerebral inclusion bodies (HP:0100314) | 1.20792441 |
| 121 | Retinal atrophy (HP:0001105) | 1.20762870 |
| 122 | Broad distal phalanx of finger (HP:0009836) | 1.19570062 |
| 123 | Hypokalemic alkalosis (HP:0001949) | 1.18583844 |
| 124 | Retinitis pigmentosa (HP:0000510) | 1.18414452 |
| 125 | Portal hypertension (HP:0001409) | 1.12631146 |
| 126 | Hyponatremia (HP:0002902) | 1.12576372 |
| 127 | Attenuation of retinal blood vessels (HP:0007843) | 1.10670417 |
| 128 | Prominent nasal bridge (HP:0000426) | 1.09878001 |
| 129 | Multicystic kidney dysplasia (HP:0000003) | 1.09562423 |
| 130 | Narrow forehead (HP:0000341) | 1.08801782 |
| 131 | Aganglionic megacolon (HP:0002251) | 1.08622066 |
| 132 | Intellectual disability, moderate (HP:0002342) | 1.05905376 |
| 133 | Short femoral neck (HP:0100864) | 1.04731740 |
| 134 | Holoprosencephaly (HP:0001360) | 1.04687804 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK4 | 7.11653436 |
| 2 | PDK3 | 7.11653436 |
| 3 | TESK1 | 5.39135272 |
| 4 | PRKD3 | 5.30763849 |
| 5 | PDK2 | 4.54201968 |
| 6 | ICK | 4.02659662 |
| 7 | MAPK15 | 3.92099813 |
| 8 | PNCK | 3.54920432 |
| 9 | WNK4 | 2.56364634 |
| 10 | PTK2B | 2.45760956 |
| 11 | PLK4 | 2.39172766 |
| 12 | MAPKAPK3 | 2.04224863 |
| 13 | STK39 | 1.93174033 |
| 14 | TLK1 | 1.83504475 |
| 15 | MAP4K2 | 1.82457319 |
| 16 | DYRK1B | 1.76855268 |
| 17 | IRAK1 | 1.53827351 |
| 18 | STK38 | 1.45129713 |
| 19 | MST1R | 1.43852418 |
| 20 | DYRK3 | 1.17036148 |
| 21 | STK16 | 1.10865838 |
| 22 | DDR2 | 1.09322666 |
| 23 | BCR | 1.07636856 |
| 24 | NTRK2 | 1.03687939 |
| 25 | EEF2K | 0.98732864 |
| 26 | WNK1 | 0.97288984 |
| 27 | STK24 | 0.90700389 |
| 28 | MAP3K7 | 0.88212738 |
| 29 | PDK1 | 0.84514885 |
| 30 | TTK | 0.84139461 |
| 31 | PASK | 0.81956823 |
| 32 | CAMK1G | 0.79827417 |
| 33 | INSRR | 0.77945320 |
| 34 | TYRO3 | 0.76898319 |
| 35 | PRKCI | 0.68253736 |
| 36 | TRPM7 | 0.66162131 |
| 37 | CSK | 0.65342333 |
| 38 | BCKDK | 0.63998236 |
| 39 | IRAK2 | 0.62207611 |
| 40 | STK38L | 0.61305620 |
| 41 | STK3 | 0.60192727 |
| 42 | NEK2 | 0.59017890 |
| 43 | PRKCG | 0.57836392 |
| 44 | BMPR1B | 0.56921193 |
| 45 | OXSR1 | 0.54711518 |
| 46 | LMTK2 | 0.54496239 |
| 47 | AKT3 | 0.54243158 |
| 48 | MET | 0.51357995 |
| 49 | MAP3K2 | 0.50119898 |
| 50 | NME1 | 0.49632158 |
| 51 | CDK3 | 0.49310095 |
| 52 | PDPK1 | 0.47783790 |
| 53 | MAPK13 | 0.45733035 |
| 54 | CAMKK2 | 0.45312438 |
| 55 | NLK | 0.45283082 |
| 56 | MAP2K6 | 0.44471088 |
| 57 | MAP2K2 | 0.44183723 |
| 58 | MAP3K3 | 0.40728221 |
| 59 | BRD4 | 0.40348205 |
| 60 | ADRBK1 | 0.39858193 |
| 61 | FRK | 0.39197495 |
| 62 | ERBB2 | 0.38969820 |
| 63 | ROCK1 | 0.37277458 |
| 64 | NEK6 | 0.37134249 |
| 65 | TIE1 | 0.36328506 |
| 66 | ACVR1B | 0.35870572 |
| 67 | CAMKK1 | 0.35756436 |
| 68 | PINK1 | 0.35182968 |
| 69 | PRKCE | 0.34537155 |
| 70 | CDC42BPA | 0.33917609 |
| 71 | MAPKAPK5 | 0.32302269 |
| 72 | PAK2 | 0.32224901 |
| 73 | DYRK1A | 0.31700893 |
| 74 | ZAK | 0.31500488 |
| 75 | MAP3K4 | 0.31147682 |
| 76 | IRAK3 | 0.31074221 |
| 77 | MARK2 | 0.30738391 |
| 78 | STK10 | 0.30687794 |
| 79 | SGK1 | 0.30171107 |
| 80 | PIK3CG | 0.29482760 |
| 81 | TAOK2 | 0.28925642 |
| 82 | WNK3 | 0.27904955 |
| 83 | AURKA | 0.27770296 |
| 84 | PRKG2 | 0.27662957 |
| 85 | GRK1 | 0.26657655 |
| 86 | MST4 | 0.26635948 |
| 87 | DAPK2 | 0.25807793 |
| 88 | SIK2 | 0.24918656 |
| 89 | EPHA4 | 0.24400717 |
| 90 | PLK1 | 0.24209549 |
| 91 | GRK5 | 0.24145434 |
| 92 | BRAF | 0.23988213 |
| 93 | MAP2K7 | 0.23757579 |
| 94 | PRKCZ | 0.23626930 |
| 95 | RIPK4 | 0.23507736 |
| 96 | RPS6KB1 | 0.23101808 |
| 97 | TNIK | 0.22608088 |
| 98 | CAMK2A | 0.22088140 |
| 99 | PRKCD | 0.22083337 |
| 100 | PRKAA1 | 0.21710281 |
| 101 | MAP3K1 | 0.21671909 |
| 102 | LATS1 | 0.21492880 |
| 103 | PKN1 | 0.21424748 |
| 104 | SMG1 | 0.21343021 |
| 105 | RPS6KA2 | 0.21250030 |
| 106 | STK11 | 0.21122409 |
| 107 | ADRBK2 | 0.20647155 |
| 108 | GSK3A | 0.20625318 |
| 109 | ATM | 0.19894649 |
| 110 | BRSK2 | 0.19726622 |
| 111 | MTOR | 0.19453174 |
| 112 | PRKG1 | 0.18831375 |
| 113 | CAMK2G | 0.18654087 |
| 114 | PRKCQ | 0.18353248 |
| 115 | ERBB3 | 0.18220060 |
| 116 | CHEK2 | 0.17231714 |
| 117 | BMPR2 | 0.16355943 |
| 118 | CHUK | 0.16238375 |
| 119 | CAMK1 | 0.15797279 |
| 120 | PAK1 | 0.15651621 |
| 121 | ABL1 | 0.15542412 |
| 122 | LRRK2 | 0.15524795 |
| 123 | TBK1 | 0.14922055 |
| 124 | MAP2K1 | 0.14764256 |
| 125 | TAOK3 | 0.14436385 |
| 126 | PRKACG | 0.14161281 |
| 127 | TGFBR1 | 0.14070927 |
| 128 | FER | 0.13551768 |
| 129 | CHEK1 | 0.13106678 |
| 130 | EPHB1 | 0.12598562 |
| 131 | PRKCA | 0.12330788 |
| 132 | PRKAA2 | 0.12157176 |
| 133 | PRKACA | 0.11580217 |
| 134 | PRKDC | 0.11319569 |
| 135 | MUSK | 0.11170878 |
| 136 | NTRK3 | 0.10864043 |
| 137 | GSK3B | 0.10462062 |
| 138 | ARAF | 0.09795318 |
| 139 | EPHA3 | 0.09688681 |
| 140 | PTK6 | 0.09635452 |
| 141 | PLK2 | 0.09337293 |
| 142 | EPHA2 | 0.09312543 |
| 143 | EGFR | 0.08108329 |
| 144 | SGK2 | 0.07512117 |
| 145 | MARK1 | 0.07254085 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 4.03686788 |
| 2 | Tyrosine metabolism_Homo sapiens_hsa00350 | 3.18959473 |
| 3 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 3.02252082 |
| 4 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 3.00690490 |
| 5 | Pyruvate metabolism_Homo sapiens_hsa00620 | 2.78632658 |
| 6 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 2.70828872 |
| 7 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 2.69193438 |
| 8 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 2.49496330 |
| 9 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 2.38372687 |
| 10 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 2.35597073 |
| 11 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 2.33105453 |
| 12 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 2.32067447 |
| 13 | Amphetamine addiction_Homo sapiens_hsa05031 | 2.29949885 |
| 14 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 2.23209595 |
| 15 | Retinol metabolism_Homo sapiens_hsa00830 | 2.13466448 |
| 16 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 2.09672623 |
| 17 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 1.98541634 |
| 18 | Insulin secretion_Homo sapiens_hsa04911 | 1.95474320 |
| 19 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.93648724 |
| 20 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.90960181 |
| 21 | Olfactory transduction_Homo sapiens_hsa04740 | 1.90180735 |
| 22 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.87590219 |
| 23 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 1.84542067 |
| 24 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 1.84499916 |
| 25 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.79366569 |
| 26 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.77943831 |
| 27 | Huntingtons disease_Homo sapiens_hsa05016 | 1.65847257 |
| 28 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 1.63656968 |
| 29 | Phototransduction_Homo sapiens_hsa04744 | 1.61876913 |
| 30 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.57620842 |
| 31 | Taste transduction_Homo sapiens_hsa04742 | 1.54907497 |
| 32 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.52577506 |
| 33 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.52165408 |
| 34 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 1.49452808 |
| 35 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.45662768 |
| 36 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.42996056 |
| 37 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.42898232 |
| 38 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.37936288 |
| 39 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.37240203 |
| 40 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.36910684 |
| 41 | Renin secretion_Homo sapiens_hsa04924 | 1.35801596 |
| 42 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.30669177 |
| 43 | Basal transcription factors_Homo sapiens_hsa03022 | 1.25311505 |
| 44 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.23785475 |
| 45 | Mineral absorption_Homo sapiens_hsa04978 | 1.23707953 |
| 46 | Circadian entrainment_Homo sapiens_hsa04713 | 1.22472044 |
| 47 | Peroxisome_Homo sapiens_hsa04146 | 1.20953633 |
| 48 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.19991750 |
| 49 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.19579616 |
| 50 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.17672045 |
| 51 | Histidine metabolism_Homo sapiens_hsa00340 | 1.16193980 |
| 52 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.15290024 |
| 53 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.15257666 |
| 54 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.14326058 |
| 55 | Sulfur metabolism_Homo sapiens_hsa00920 | 1.13749057 |
| 56 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 1.13367815 |
| 57 | Tight junction_Homo sapiens_hsa04530 | 1.10561532 |
| 58 | Protein export_Homo sapiens_hsa03060 | 1.08204475 |
| 59 | Cocaine addiction_Homo sapiens_hsa05030 | 1.06493084 |
| 60 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.04307613 |
| 61 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.03252425 |
| 62 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.02431417 |
| 63 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 1.00819156 |
| 64 | ABC transporters_Homo sapiens_hsa02010 | 0.98227695 |
| 65 | Long-term potentiation_Homo sapiens_hsa04720 | 0.98162875 |
| 66 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.95354954 |
| 67 | Nicotine addiction_Homo sapiens_hsa05033 | 0.93700005 |
| 68 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.91048292 |
| 69 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.89637474 |
| 70 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.89211138 |
| 71 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.88888219 |
| 72 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.88305429 |
| 73 | Salivary secretion_Homo sapiens_hsa04970 | 0.88035376 |
| 74 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.85398717 |
| 75 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.85198542 |
| 76 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.84238351 |
| 77 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.83955638 |
| 78 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.81837497 |
| 79 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.76797649 |
| 80 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.76389539 |
| 81 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.73188111 |
| 82 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.72534727 |
| 83 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.69996009 |
| 84 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.69235982 |
| 85 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.69117014 |
| 86 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.68609568 |
| 87 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.67664595 |
| 88 | Bile secretion_Homo sapiens_hsa04976 | 0.67137346 |
| 89 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.66747261 |
| 90 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.66127890 |
| 91 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.65867371 |
| 92 | Morphine addiction_Homo sapiens_hsa05032 | 0.65269916 |
| 93 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.64015497 |
| 94 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.63375337 |
| 95 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.61814656 |
| 96 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.59774230 |
| 97 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.57137580 |
| 98 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.56590964 |
| 99 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.54272960 |
| 100 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.53434631 |
| 101 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.52681380 |
| 102 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.51059637 |
| 103 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.50106765 |
| 104 | GABAergic synapse_Homo sapiens_hsa04727 | 0.48458723 |
| 105 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.47151613 |
| 106 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.45706484 |
| 107 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.45309555 |
| 108 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.42712521 |
| 109 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.42605607 |
| 110 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.40194767 |
| 111 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.39835043 |
| 112 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.39068729 |
| 113 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.38567115 |
| 114 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.38328989 |
| 115 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.37916155 |
| 116 | Circadian rhythm_Homo sapiens_hsa04710 | 0.37447816 |
| 117 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.37080744 |
| 118 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.36661439 |
| 119 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.35755380 |
| 120 | Purine metabolism_Homo sapiens_hsa00230 | 0.34815724 |
| 121 | Carbon metabolism_Homo sapiens_hsa01200 | 0.33579901 |
| 122 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.33360666 |
| 123 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.31399910 |
| 124 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.31120108 |
| 125 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.30804062 |
| 126 | Phagosome_Homo sapiens_hsa04145 | 0.30572528 |
| 127 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.30282620 |
| 128 | Metabolic pathways_Homo sapiens_hsa01100 | 0.29493743 |
| 129 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.28027802 |
| 130 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.27717494 |
| 131 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.22356071 |
| 132 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.21540818 |
| 133 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.19632182 |
| 134 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.19088970 |
| 135 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.19001296 |
| 136 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.18614330 |
| 137 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.18344901 |
| 138 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.17853407 |
| 139 | Adherens junction_Homo sapiens_hsa04520 | 0.17241878 |
| 140 | Allograft rejection_Homo sapiens_hsa05330 | 0.14939254 |

