

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222) | 7.44789986 |
| 2 | L-phenylalanine catabolic process (GO:0006559) | 7.44789986 |
| 3 | erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221) | 7.20908712 |
| 4 | L-phenylalanine metabolic process (GO:0006558) | 7.20908712 |
| 5 | triglyceride-rich lipoprotein particle remodeling (GO:0034370) | 6.94120779 |
| 6 | intestinal cholesterol absorption (GO:0030299) | 6.80889328 |
| 7 | negative regulation of fibrinolysis (GO:0051918) | 6.73655380 |
| 8 | regulation of apoptotic cell clearance (GO:2000425) | 6.53296574 |
| 9 | high-density lipoprotein particle remodeling (GO:0034375) | 6.43932567 |
| 10 | regulation of fibrinolysis (GO:0051917) | 6.39847620 |
| 11 | glyoxylate metabolic process (GO:0046487) | 6.32533416 |
| 12 | aromatic amino acid family catabolic process (GO:0009074) | 6.31461443 |
| 13 | regulation of cholesterol esterification (GO:0010872) | 5.93543131 |
| 14 | reverse cholesterol transport (GO:0043691) | 5.93407697 |
| 15 | urea metabolic process (GO:0019627) | 5.81173280 |
| 16 | urea cycle (GO:0000050) | 5.81173280 |
| 17 | plasma lipoprotein particle remodeling (GO:0034369) | 5.64637221 |
| 18 | protein-lipid complex remodeling (GO:0034368) | 5.64637221 |
| 19 | macromolecular complex remodeling (GO:0034367) | 5.64637221 |
| 20 | protein carboxylation (GO:0018214) | 5.49636692 |
| 21 | peptidyl-glutamic acid carboxylation (GO:0017187) | 5.49636692 |
| 22 | regulation of protein activation cascade (GO:2000257) | 5.49243312 |
| 23 | regulation of triglyceride catabolic process (GO:0010896) | 5.43382146 |
| 24 | kynurenine metabolic process (GO:0070189) | 5.37587866 |
| 25 | tryptophan catabolic process (GO:0006569) | 5.37177143 |
| 26 | indole-containing compound catabolic process (GO:0042436) | 5.37177143 |
| 27 | indolalkylamine catabolic process (GO:0046218) | 5.37177143 |
| 28 | cysteine metabolic process (GO:0006534) | 5.36238544 |
| 29 | phospholipid efflux (GO:0033700) | 5.35161897 |
| 30 | nitrogen cycle metabolic process (GO:0071941) | 5.32205579 |
| 31 | sulfur amino acid catabolic process (GO:0000098) | 5.29100908 |
| 32 | complement activation, alternative pathway (GO:0006957) | 5.15001542 |
| 33 | bile acid biosynthetic process (GO:0006699) | 5.14653002 |
| 34 | tryptophan metabolic process (GO:0006568) | 5.08320046 |
| 35 | plasma lipoprotein particle clearance (GO:0034381) | 5.08275357 |
| 36 | regulation of complement activation (GO:0030449) | 4.97537559 |
| 37 | alpha-linolenic acid metabolic process (GO:0036109) | 4.93518001 |
| 38 | serine family amino acid catabolic process (GO:0009071) | 4.93506879 |
| 39 | triglyceride homeostasis (GO:0070328) | 4.91232312 |
| 40 | acylglycerol homeostasis (GO:0055090) | 4.91232312 |
| 41 | tyrosine metabolic process (GO:0006570) | 4.86466855 |
| 42 | cholesterol efflux (GO:0033344) | 4.80887325 |
| 43 | plasma lipoprotein particle assembly (GO:0034377) | 4.73212887 |
| 44 | blood coagulation, intrinsic pathway (GO:0007597) | 4.72907827 |
| 45 | acute-phase response (GO:0006953) | 4.71607673 |
| 46 | regulation of cholesterol homeostasis (GO:2000188) | 4.71176724 |
| 47 | fibrinolysis (GO:0042730) | 4.68349967 |
| 48 | homocysteine metabolic process (GO:0050667) | 4.66082865 |
| 49 | intestinal absorption (GO:0050892) | 4.63203046 |
| 50 | aromatic amino acid family metabolic process (GO:0009072) | 4.59320986 |
| 51 | negative regulation of sterol transport (GO:0032372) | 4.48979340 |
| 52 | negative regulation of cholesterol transport (GO:0032375) | 4.48979340 |
| 53 | positive regulation of triglyceride lipase activity (GO:0061365) | 4.48438029 |
| 54 | positive regulation of lipoprotein lipase activity (GO:0051006) | 4.48438029 |
| 55 | bile acid metabolic process (GO:0008206) | 4.45411137 |
| 56 | amino-acid betaine metabolic process (GO:0006577) | 4.42870454 |
| 57 | heme transport (GO:0015886) | 4.41021612 |
| 58 | cellular ketone body metabolic process (GO:0046950) | 4.37439111 |
| 59 | negative regulation of lipase activity (GO:0060192) | 4.34813368 |
| 60 | alpha-amino acid catabolic process (GO:1901606) | 4.33404038 |
| 61 | plasma lipoprotein particle organization (GO:0071827) | 4.32888209 |
| 62 | negative regulation of complement activation (GO:0045916) | 4.31275317 |
| 63 | fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540) | 4.29741174 |
| 64 | arginine metabolic process (GO:0006525) | 4.28389554 |
| 65 | proline metabolic process (GO:0006560) | 4.27658050 |
| 66 | regulation of bile acid biosynthetic process (GO:0070857) | 4.26390187 |
| 67 | regulation of plasminogen activation (GO:0010755) | 4.26256623 |
| 68 | protein-lipid complex assembly (GO:0065005) | 4.24219918 |
| 69 | glutamate metabolic process (GO:0006536) | 4.21047786 |
| 70 | negative regulation of protein activation cascade (GO:2000258) | 4.19664147 |
| 71 | aldehyde catabolic process (GO:0046185) | 4.19555860 |
| 72 | regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081) | 4.19317937 |
| 73 | phospholipid homeostasis (GO:0055091) | 4.15832831 |
| 74 | positive regulation of heterotypic cell-cell adhesion (GO:0034116) | 4.14562118 |
| 75 | regulation of cholesterol biosynthetic process (GO:0045540) | 4.14044403 |
| 76 | low-density lipoprotein particle remodeling (GO:0034374) | 4.13974679 |
| 77 | regulation of humoral immune response (GO:0002920) | 4.12829945 |
| 78 | positive regulation of extracellular matrix organization (GO:1903055) | 4.12161028 |
| 79 | low-density lipoprotein particle clearance (GO:0034383) | 4.09596701 |
| 80 | lysine catabolic process (GO:0006554) | 4.09238747 |
| 81 | lysine metabolic process (GO:0006553) | 4.09238747 |
| 82 | glycine metabolic process (GO:0006544) | 4.09099927 |
| 83 | protein-lipid complex subunit organization (GO:0071825) | 4.07042271 |
| 84 | cellular modified amino acid catabolic process (GO:0042219) | 4.05073257 |
| 85 | positive regulation of lipid catabolic process (GO:0050996) | 4.03199618 |
| 86 | positive regulation of hemostasis (GO:1900048) | 4.00059037 |
| 87 | positive regulation of blood coagulation (GO:0030194) | 4.00059037 |
| 88 | cellular amino acid catabolic process (GO:0009063) | 3.98801902 |
| 89 | sterol transport (GO:0015918) | 3.96318555 |
| 90 | cholesterol transport (GO:0030301) | 3.96318555 |
| 91 | dicarboxylic acid biosynthetic process (GO:0043650) | 3.96077240 |
| 92 | cholesterol homeostasis (GO:0042632) | 3.93219805 |
| 93 | protein activation cascade (GO:0072376) | 3.91873876 |
| 94 | serine family amino acid metabolic process (GO:0009069) | 3.91220675 |
| 95 | lipoprotein metabolic process (GO:0042157) | 3.89178100 |
| 96 | serine family amino acid biosynthetic process (GO:0009070) | 3.88672828 |
| 97 | sterol homeostasis (GO:0055092) | 3.86501568 |
| 98 | diacylglycerol metabolic process (GO:0046339) | 3.86462019 |
| 99 | lung epithelium development (GO:0060428) | 3.81762739 |
| 100 | positive regulation of steroid metabolic process (GO:0045940) | 3.80814651 |
| 101 | indolalkylamine metabolic process (GO:0006586) | 3.78053759 |
| 102 | ketone body metabolic process (GO:1902224) | 3.77279414 |
| 103 | bile acid and bile salt transport (GO:0015721) | 3.73092558 |
| 104 | imidazole-containing compound metabolic process (GO:0052803) | 3.72574167 |
| 105 | coenzyme catabolic process (GO:0009109) | 3.70037001 |
| 106 | cofactor catabolic process (GO:0051187) | 3.69855654 |
| 107 | amine catabolic process (GO:0009310) | 3.67181349 |
| 108 | cellular biogenic amine catabolic process (GO:0042402) | 3.67181349 |
| 109 | very-low-density lipoprotein particle assembly (GO:0034379) | 3.67038283 |
| 110 | benzene-containing compound metabolic process (GO:0042537) | 3.65224572 |
| 111 | proline biosynthetic process (GO:0006561) | 3.62510678 |
| 112 | positive regulation of coagulation (GO:0050820) | 3.61914160 |
| 113 | negative regulation of blood coagulation (GO:0030195) | 3.61201993 |
| 114 | negative regulation of hemostasis (GO:1900047) | 3.61201993 |
| 115 | embryonic retina morphogenesis in camera-type eye (GO:0060059) | 3.55182893 |
| 116 | positive regulation of hormone metabolic process (GO:0032352) | 3.54181161 |
| 117 | complement activation (GO:0006956) | 3.54116646 |
| 118 | complement activation, classical pathway (GO:0006958) | 3.52557508 |
| 119 | opsonization (GO:0008228) | 3.52276382 |
| 120 | positive regulation of fatty acid beta-oxidation (GO:0032000) | 3.50253690 |
| 121 | negative regulation of coagulation (GO:0050819) | 3.47601143 |
| 122 | carboxylic acid catabolic process (GO:0046395) | 3.47130923 |
| 123 | organic acid catabolic process (GO:0016054) | 3.47130923 |
| 124 | positive regulation of fatty acid biosynthetic process (GO:0045723) | 3.46816939 |
| 125 | pinocytosis (GO:0006907) | 3.31684294 |
| 126 | cytolysis (GO:0019835) | 3.30619791 |
| 127 | negative regulation of sodium ion transport (GO:0010766) | 3.29159332 |
| 128 | negative regulation of humoral immune response (GO:0002921) | 3.28630435 |
| 129 | negative regulation of wound healing (GO:0061045) | 3.26769622 |
| 130 | regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095) | 3.26385921 |
| 131 | regulation of extracellular matrix organization (GO:1903053) | 3.25223190 |
| 132 | peptidyl-glutamic acid modification (GO:0018200) | 3.24947679 |
| 133 | lipid homeostasis (GO:0055088) | 3.23533491 |
| 134 | positive regulation of hormone biosynthetic process (GO:0046886) | 3.13033131 |
| 135 | nephron tubule morphogenesis (GO:0072078) | 3.12598058 |
| 136 | nephron epithelium morphogenesis (GO:0072088) | 3.12598058 |
| 137 | regulation of cholesterol metabolic process (GO:0090181) | 3.10946741 |
| 138 | renal system process involved in regulation of systemic arterial blood pressure (GO:0003071) | 3.10285718 |
| 139 | modified amino acid transport (GO:0072337) | 3.05050031 |
| 140 | acute inflammatory response (GO:0002526) | 3.03907156 |
| 141 | negative regulation of norepinephrine secretion (GO:0010700) | 3.00307644 |
| 142 | negative regulation of digestive system process (GO:0060457) | 2.98978130 |
| 143 | 4-hydroxyproline metabolic process (GO:0019471) | 2.98227781 |
| 144 | acylglycerol catabolic process (GO:0046464) | 2.97323536 |
| 145 | neutral lipid catabolic process (GO:0046461) | 2.97323536 |
| 146 | regulation of norepinephrine secretion (GO:0014061) | 2.96268246 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | * RXR_22158963_ChIP-Seq_LIVER_Mouse | 8.23204159 |
| 2 | * PPARA_22158963_ChIP-Seq_LIVER_Mouse | 7.00735021 |
| 3 | EGR1_23403033_ChIP-Seq_LIVER_Mouse | 6.56531848 |
| 4 | * LXR_22158963_ChIP-Seq_LIVER_Mouse | 6.30760811 |
| 5 | CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 5.51870673 |
| 6 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 5.28487326 |
| 7 | * FOXO1_23066095_ChIP-Seq_LIVER_Mouse | 5.22635659 |
| 8 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 4.12633158 |
| 9 | NR1I2_20693526_ChIP-Seq_LIVER_Mouse | 3.97654454 |
| 10 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 2.87710495 |
| 11 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 2.79420423 |
| 12 | CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human | 2.69769278 |
| 13 | HNF4A_19761587_ChIP-ChIP_CACO-2_Human | 2.13881577 |
| 14 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 2.06487354 |
| 15 | * TCF7L2_21901280_ChIP-Seq_H4IIE_Rat | 2.04014037 |
| 16 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 2.02930630 |
| 17 | * ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 12.2406409 |
| 18 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 1.88186953 |
| 19 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.87483019 |
| 20 | GATA1_22025678_ChIP-Seq_K562_Human | 1.79364619 |
| 21 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 1.78478604 |
| 22 | CLOCK_20551151_ChIP-Seq_293T_Human | 1.76842248 |
| 23 | PRDM5_23873026_ChIP-Seq_MEFs_Mouse | 1.69224761 |
| 24 | ESR1_15608294_ChIP-ChIP_MCF-7_Human | 1.67696454 |
| 25 | * FOXA2_19822575_ChIP-Seq_HepG2_Human | 1.64015917 |
| 26 | * HNF4A_19822575_ChIP-Seq_HepG2_Human | 1.38175822 |
| 27 | EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.30943197 |
| 28 | HTT_18923047_ChIP-ChIP_STHdh_Human | 1.27559328 |
| 29 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 1.24463395 |
| 30 | STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse | 1.18670626 |
| 31 | RXRA_24833708_ChIP-Seq_LIVER_Mouse | 1.16134155 |
| 32 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 1.12702323 |
| 33 | CTNNB1_20460455_ChIP-Seq_HCT116_Human | 1.10600105 |
| 34 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.08806406 |
| 35 | POU5F1_16518401_ChIP-PET_MESCs_Mouse | 1.08189926 |
| 36 | STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse | 1.07953475 |
| 37 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.04725316 |
| 38 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.03050321 |
| 39 | ZNF263_19887448_ChIP-Seq_K562_Human | 1.01019037 |
| 40 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 0.96920379 |
| 41 | NANOG_21062744_ChIP-ChIP_HESCs_Human | 0.96550237 |
| 42 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 0.94688204 |
| 43 | ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 0.94455210 |
| 44 | WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 0.93973176 |
| 45 | TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 0.92705303 |
| 46 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 0.91721658 |
| 47 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 0.90643687 |
| 48 | TP53_22127205_ChIP-Seq_IMR90_Human | 0.89274614 |
| 49 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 0.88776902 |
| 50 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 0.87929140 |
| 51 | ZFP281_18757296_ChIP-ChIP_E14_Mouse | 0.86804124 |
| 52 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 0.86408057 |
| 53 | SOX2_27498859_Chip-Seq_STOMACH_Mouse | 0.86283890 |
| 54 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 0.85974288 |
| 55 | DNAJC2_21179169_ChIP-ChIP_NT2_Human | 0.84785478 |
| 56 | ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 0.83271937 |
| 57 | NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human | 0.83201274 |
| 58 | FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 0.83033425 |
| 59 | ATF3_27146783_Chip-Seq_COLON_Human | 0.82334947 |
| 60 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 0.81214963 |
| 61 | SOX17_20123909_ChIP-Seq_XEN_Mouse | 0.79329993 |
| 62 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 0.79039701 |
| 63 | * BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human | 0.78631621 |
| 64 | * RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human | 0.76799195 |
| 65 | TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 0.76520733 |
| 66 | IRF1_21803131_ChIP-Seq_MONOCYTES_Human | 0.76224441 |
| 67 | GATA4_25053715_ChIP-Seq_YYC3_Human | 0.75050195 |
| 68 | ZFP281_18358816_ChIP-ChIP_MESCs_Mouse | 0.74404483 |
| 69 | * SREBP1_19666523_ChIP-Seq_LIVER_Mouse | 0.74261768 |
| 70 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 0.74169808 |
| 71 | GATA1_19941826_ChIP-Seq_K562_Human | 0.73700977 |
| 72 | LXR_22292898_ChIP-Seq_THP-1_Human | 0.73458101 |
| 73 | SMC4_20622854_ChIP-Seq_HELA_Human | 0.72968546 |
| 74 | SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 0.72195611 |
| 75 | RARA_24833708_ChIP-Seq_LIVER_Mouse | 0.72176429 |
| 76 | SOX11_22085726_ChIP-Seq_ESNs_Mouse | 0.70663715 |
| 77 | NR0B1_18358816_ChIP-ChIP_MESCs_Mouse | 0.70361898 |
| 78 | * SREBP2_21459322_ChIP-Seq_LIVER_Mouse | 0.69665728 |
| 79 | DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 0.69622362 |
| 80 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 0.69235203 |
| 81 | SMAD1_18555785_ChIP-Seq_MESCs_Mouse | 0.69051073 |
| 82 | CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 0.69020256 |
| 83 | SALL4_18804426_ChIP-ChIP_MESCs_Mouse | 0.67465888 |
| 84 | SALL4_18804426_ChIP-ChIP_XEN_Mouse | 0.67353118 |
| 85 | KDM2B_26808549_Chip-Seq_K562_Human | 0.67163664 |
| 86 | CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 0.66854967 |
| 87 | SOX2_18358816_ChIP-ChIP_MESCs_Mouse | 0.66157651 |
| 88 | EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human | 0.66118218 |
| 89 | NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse | 0.64777086 |
| 90 | ZFX_18555785_ChIP-Seq_MESCs_Mouse | 0.63704083 |
| 91 | SPI1_26923725_Chip-Seq_HPCs_Mouse | 0.63583763 |
| 92 | KAP1_27257070_Chip-Seq_ESCs_Mouse | 0.63478869 |
| 93 | GATA1_19941827_ChIP-Seq_MEL_Mouse | 0.62230937 |
| 94 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 0.61921532 |
| 95 | Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse | 0.61576729 |
| 96 | EGR1_19032775_ChIP-ChIP_M12_Human | 0.60901207 |
| 97 | AR_21915096_ChIP-Seq_LNCaP-1F5_Human | 0.60102964 |
| 98 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 0.59851078 |
| 99 | GATA2_19941826_ChIP-Seq_K562_Human | 0.58996915 |
| 100 | * RAD21_21589869_ChIP-Seq_MESCs_Mouse | 0.58598831 |
| 101 | RARB_24833708_ChIP-Seq_LIVER_Mouse | 0.57166264 |
| 102 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 0.56379613 |
| 103 | BMI1_19503595_ChIP-Seq_MEFsC_Mouse | 0.56086157 |
| 104 | CEBPB_22108803_ChIP-Seq_LS180_Human | 0.53887613 |
| 105 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 0.52929009 |
| 106 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 0.52638924 |
| 107 | FOXA1_25552417_ChIP-Seq_VCAP_Human | 0.50497245 |
| 108 | NFE2L2_20460467_ChIP-Seq_MEFs_Mouse | 0.50188599 |
| 109 | NRF2_20460467_ChIP-Seq_MEFs_Mouse | 0.50188599 |
| 110 | * AR_20517297_ChIP-Seq_VCAP_Human | 0.49185362 |
| 111 | SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 0.48411887 |
| 112 | MYC_19915707_ChIP-ChIP_AK7_Human | 0.47984305 |
| 113 | FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human | 0.47884982 |
| 114 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 0.46430484 |
| 115 | P53_21459846_ChIP-Seq_SAOS-2_Human | 0.45515225 |
| 116 | MYC_27129775_Chip-Seq_CORNEA_Mouse | 0.45069518 |
| 117 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 0.44046932 |
| 118 | FOXA1_26743006_Chip-Seq_LNCaP-abl_Human | 0.43745261 |
| 119 | GATA3_20176728_ChIP-ChIP_TSCs_Mouse | 0.43670301 |
| 120 | * TAF2_19829295_ChIP-Seq_ESCs_Human | 0.43664163 |
| 121 | FOXO3_23340844_ChIP-Seq_DLD1_Human | 0.42837934 |
| 122 | SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 0.42809017 |
| 123 | BCOR_27268052_Chip-Seq_Bcells_Human | 0.42728490 |
| 124 | ERG_21242973_ChIP-ChIP_JURKAT_Human | 0.42622112 |
| 125 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 0.41440988 |
| 126 | GATA6_25053715_ChIP-Seq_YYC3_Human | 0.41306715 |
| 127 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 0.41281477 |
| 128 | PPAR_26484153_Chip-Seq_NCI-H1993_Human | 0.41008719 |
| 129 | TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse | 0.40451155 |
| 130 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 0.40366707 |
| 131 | RACK7_27058665_Chip-Seq_MCF-7_Human | 0.38842095 |
| 132 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 0.38772355 |
| 133 | CBP_21632823_ChIP-Seq_H3396_Human | 0.38402538 |
| 134 | FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.37696439 |
| 135 | SOX2_20726797_ChIP-Seq_SW620_Human | 0.37647275 |
| 136 | PPARG_20887899_ChIP-Seq_3T3-L1_Mouse | 0.37576839 |
| 137 | CTCF_27219007_Chip-Seq_Bcells_Human | 0.37274755 |
| 138 | CDX2_20551321_ChIP-Seq_CACO-2_Human | 0.36890901 |
| 139 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 0.36018060 |
| 140 | TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 0.35647502 |
| 141 | STAT3_19079543_ChIP-ChIP_MESCs_Mouse | 0.35270573 |
| 142 | OCT4_20526341_ChIP-Seq_ESCs_Human | 0.35261244 |
| 143 | * NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 0.35059920 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0002139_abnormal_hepatobiliary_system | 7.51462400 |
| 2 | MP0005360_urolithiasis | 7.35540881 |
| 3 | MP0005085_abnormal_gallbladder_physiolo | 6.11942279 |
| 4 | MP0005365_abnormal_bile_salt | 5.97764209 |
| 5 | MP0003122_maternal_imprinting | 5.84107258 |
| 6 | MP0008875_abnormal_xenobiotic_pharmacok | 4.59413966 |
| 7 | MP0009840_abnormal_foam_cell | 3.96720495 |
| 8 | MP0003191_abnormal_cellular_cholesterol | 3.85040354 |
| 9 | MP0010329_abnormal_lipoprotein_level | 3.80013024 |
| 10 | MP0003252_abnormal_bile_duct | 3.59183053 |
| 11 | MP0003806_abnormal_nucleotide_metabolis | 3.50068750 |
| 12 | MP0003123_paternal_imprinting | 3.40660156 |
| 13 | MP0005083_abnormal_biliary_tract | 3.15747318 |
| 14 | MP0000566_synostosis | 3.07959492 |
| 15 | MP0003195_calcinosis | 2.88390359 |
| 16 | MP0005332_abnormal_amino_acid | 2.82948310 |
| 17 | MP0001666_abnormal_nutrient_absorption | 2.53334222 |
| 18 | MP0002089_abnormal_postnatal_growth/wei | 2.33802948 |
| 19 | MP0002138_abnormal_hepatobiliary_system | 2.22371293 |
| 20 | MP0003172_abnormal_lysosome_physiology | 2.21860262 |
| 21 | * MP0000609_abnormal_liver_physiology | 2.20389693 |
| 22 | MP0004019_abnormal_vitamin_homeostasis | 2.15784710 |
| 23 | MP0002118_abnormal_lipid_homeostasis | 2.11064813 |
| 24 | MP0003011_delayed_dark_adaptation | 2.05331996 |
| 25 | MP0003121_genomic_imprinting | 1.99005320 |
| 26 | MP0003868_abnormal_feces_composition | 1.92777414 |
| 27 | MP0003656_abnormal_erythrocyte_physiolo | 1.91890152 |
| 28 | MP0006054_spinal_hemorrhage | 1.90361990 |
| 29 | MP0005319_abnormal_enzyme/_coenzyme | 1.78932834 |
| 30 | MP0001764_abnormal_homeostasis | 1.67507846 |
| 31 | MP0002132_abnormal_respiratory_system | 1.61722632 |
| 32 | MP0005584_abnormal_enzyme/coenzyme_acti | 1.61552910 |
| 33 | MP0005409_darkened_coat_color | 1.56130267 |
| 34 | MP0005257_abnormal_intraocular_pressure | 1.52855010 |
| 35 | MP0000604_amyloidosis | 1.45928323 |
| 36 | MP0009780_abnormal_chondrocyte_physiolo | 1.44928540 |
| 37 | MP0005451_abnormal_body_composition | 1.41290152 |
| 38 | MP0009697_abnormal_copulation | 1.37229944 |
| 39 | MP0004272_abnormal_basement_membrane | 1.35011153 |
| 40 | MP0009643_abnormal_urine_homeostasis | 1.30460588 |
| 41 | MP0003950_abnormal_plasma_membrane | 1.30080502 |
| 42 | MP0002254_reproductive_system_inflammat | 1.28725146 |
| 43 | MP0003705_abnormal_hypodermis_morpholog | 1.27848809 |
| 44 | MP0003186_abnormal_redox_activity | 1.27062363 |
| 45 | MP0003567_abnormal_fetal_cardiomyocyte | 1.26902500 |
| 46 | * MP0000598_abnormal_liver_morphology | 1.26055061 |
| 47 | MP0010368_abnormal_lymphatic_system | 1.24321578 |
| 48 | MP0003315_abnormal_perineum_morphology | 1.23568455 |
| 49 | MP0002933_joint_inflammation | 1.17346064 |
| 50 | MP0009763_increased_sensitivity_to | 1.12840170 |
| 51 | MP0005636_abnormal_mineral_homeostasis | 1.11559994 |
| 52 | MP0005076_abnormal_cell_differentiation | 1.10589772 |
| 53 | MP0009764_decreased_sensitivity_to | 1.07842268 |
| 54 | MP0005670_abnormal_white_adipose | 1.05414943 |
| 55 | MP0004264_abnormal_extraembryonic_tissu | 1.03388882 |
| 56 | MP0002938_white_spotting | 0.99204286 |
| 57 | MP0008469_abnormal_protein_level | 0.98367085 |
| 58 | MP0009642_abnormal_blood_homeostasis | 0.95199252 |
| 59 | MP0003566_abnormal_cell_adhesion | 0.92768451 |
| 60 | MP0003183_abnormal_peptide_metabolism | 0.92083982 |
| 61 | MP0003942_abnormal_urinary_system | 0.91716576 |
| 62 | MP0005464_abnormal_platelet_physiology | 0.91364910 |
| 63 | MP0003115_abnormal_respiratory_system | 0.89772525 |
| 64 | MP0008438_abnormal_cutaneous_collagen | 0.86886988 |
| 65 | MP0005376_homeostasis/metabolism_phenot | 0.86790784 |
| 66 | MP0001270_distended_abdomen | 0.86273470 |
| 67 | MP0005647_abnormal_sex_gland | 0.86204582 |
| 68 | MP0000003_abnormal_adipose_tissue | 0.82655400 |
| 69 | MP0009765_abnormal_xenobiotic_induced | 0.82275360 |
| 70 | MP0002078_abnormal_glucose_homeostasis | 0.81441811 |
| 71 | MP0003943_abnormal_hepatobiliary_system | 0.79281915 |
| 72 | MP0006036_abnormal_mitochondrial_physio | 0.77260111 |
| 73 | MP0000639_abnormal_adrenal_gland | 0.76665644 |
| 74 | MP0001756_abnormal_urination | 0.75975846 |
| 75 | MP0005220_abnormal_exocrine_pancreas | 0.75280306 |
| 76 | MP0002971_abnormal_brown_adipose | 0.75118284 |
| 77 | MP0005408_hypopigmentation | 0.73459512 |
| 78 | MP0009053_abnormal_anal_canal | 0.73035188 |
| 79 | MP0003690_abnormal_glial_cell | 0.72713925 |
| 80 | MP0005084_abnormal_gallbladder_morpholo | 0.71561616 |
| 81 | MP0005377_hearing/vestibular/ear_phenot | 0.70499292 |
| 82 | MP0003878_abnormal_ear_physiology | 0.70499292 |
| 83 | MP0000920_abnormal_myelination | 0.70123116 |
| 84 | MP0004883_abnormal_blood_vessel | 0.69984967 |
| 85 | MP0003879_abnormal_hair_cell | 0.69080702 |
| 86 | MP0003632_abnormal_nervous_system | 0.68500083 |
| 87 | MP0008260_abnormal_autophagy | 0.68405150 |
| 88 | MP0002909_abnormal_adrenal_gland | 0.65732851 |
| 89 | MP0004130_abnormal_muscle_cell | 0.65718794 |
| 90 | MP0003329_amyloid_beta_deposits | 0.64061345 |
| 91 | MP0001661_extended_life_span | 0.63608321 |
| 92 | MP0001324_abnormal_eye_pigmentation | 0.63032642 |
| 93 | MP0005334_abnormal_fat_pad | 0.62433822 |
| 94 | MP0005410_abnormal_fertilization | 0.61571085 |
| 95 | MP0002092_abnormal_eye_morphology | 0.60959786 |
| 96 | MP0003890_abnormal_embryonic-extraembry | 0.59307722 |
| 97 | MP0005535_abnormal_body_temperature | 0.58891800 |
| 98 | MP0005448_abnormal_energy_balance | 0.58189522 |
| 99 | MP0005395_other_phenotype | 0.58135588 |
| 100 | MP0005379_endocrine/exocrine_gland_phen | 0.56729547 |
| 101 | MP0003075_altered_response_to | 0.56658082 |
| 102 | MP0003436_decreased_susceptibility_to | 0.55936262 |
| 103 | MP0002136_abnormal_kidney_physiology | 0.55602532 |
| 104 | MP0000858_altered_metastatic_potential | 0.55276873 |
| 105 | MP0005266_abnormal_metabolism | 0.54898958 |
| 106 | MP0005164_abnormal_response_to | 0.54189531 |
| 107 | MP0004147_increased_porphyrin_level | 0.54079748 |
| 108 | MP0002876_abnormal_thyroid_physiology | 0.53151115 |
| 109 | MP0005666_abnormal_adipose_tissue | 0.52973887 |
| 110 | MP0001286_abnormal_eye_development | 0.51579275 |
| 111 | MP0002282_abnormal_trachea_morphology | 0.51523130 |
| 112 | MP0008873_increased_physiological_sensi | 0.51127423 |
| 113 | MP0003638_abnormal_response/metabolism_ | 0.50258795 |
| 114 | MP0002160_abnormal_reproductive_system | 0.49437650 |
| 115 | MP0006292_abnormal_olfactory_placode | 0.49353033 |
| 116 | MP0002086_abnormal_extraembryonic_tissu | 0.49268165 |
| 117 | MP0000371_diluted_coat_color | 0.48252660 |
| 118 | MP0000678_abnormal_parathyroid_gland | 0.48048773 |
| 119 | MP0002233_abnormal_nose_morphology | 0.47212709 |
| 120 | MP0003724_increased_susceptibility_to | 0.46957168 |
| 121 | MP0000249_abnormal_blood_vessel | 0.46722468 |
| 122 | MP0001730_embryonic_growth_arrest | 0.46574645 |
| 123 | MP0000767_abnormal_smooth_muscle | 0.46131211 |
| 124 | MP0005023_abnormal_wound_healing | 0.45654344 |
| 125 | MP0005166_decreased_susceptibility_to | 0.44583244 |
| 126 | MP0005167_abnormal_blood-brain_barrier | 0.42784463 |
| 127 | MP0006035_abnormal_mitochondrial_morpho | 0.41192033 |
| 128 | MP0008874_decreased_physiological_sensi | 0.39573973 |
| 129 | MP0001243_abnormal_dermal_layer | 0.39064799 |
| 130 | MP0003953_abnormal_hormone_level | 0.38707071 |
| 131 | MP0003718_maternal_effect | 0.37937538 |
| 132 | MP0002837_dystrophic_cardiac_calcinosis | 0.37861080 |
| 133 | MP0009384_cardiac_valve_regurgitation | 0.37813713 |
| 134 | MP0008872_abnormal_physiological_respon | 0.37699270 |
| 135 | MP0002796_impaired_skin_barrier | 0.36931231 |
| 136 | MP0005058_abnormal_lysosome_morphology | 0.35490656 |
| 137 | MP0000230_abnormal_systemic_arterial | 0.35066816 |
| 138 | * MP0001845_abnormal_inflammatory_respons | 0.34731411 |
| 139 | MP0002928_abnormal_bile_duct | 0.33785958 |
| 140 | MP0003300_gastrointestinal_ulcer | 0.33714401 |
| 141 | MP0002135_abnormal_kidney_morphology | 0.33379812 |
| 142 | MP0009115_abnormal_fat_cell | 0.33007222 |
| 143 | MP0002168_other_aberrant_phenotype | 0.32321584 |
| 144 | MP0009672_abnormal_birth_weight | 0.31804013 |
| 145 | MP0001915_intracranial_hemorrhage | 0.30832483 |
| 146 | MP0001881_abnormal_mammary_gland | 0.30194133 |
| 147 | MP0002970_abnormal_white_adipose | 0.29655593 |
| 148 | MP0002822_catalepsy | 0.29412630 |
| 149 | MP0003453_abnormal_keratinocyte_physiol | 0.29379586 |
| 150 | MP0000579_abnormal_nail_morphology | 0.27833836 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Deep venous thrombosis (HP:0002625) | 7.59609310 |
| 2 | Abnormality of aromatic amino acid family metabolism (HP:0004338) | 7.30434907 |
| 3 | Prolonged partial thromboplastin time (HP:0003645) | 6.85977663 |
| 4 | Abnormality of monocarboxylic acid metabolism (HP:0010996) | 6.60613819 |
| 5 | Intrahepatic cholestasis (HP:0001406) | 6.48588634 |
| 6 | Xanthomatosis (HP:0000991) | 6.47869189 |
| 7 | Hypobetalipoproteinemia (HP:0003563) | 6.03900202 |
| 8 | Hyperlipoproteinemia (HP:0010980) | 5.60162018 |
| 9 | Joint hemorrhage (HP:0005261) | 5.24109247 |
| 10 | Abnormality of the common coagulation pathway (HP:0010990) | 5.23981191 |
| 11 | Hypolipoproteinemia (HP:0010981) | 5.23540243 |
| 12 | Hypoalphalipoproteinemia (HP:0003233) | 5.22765920 |
| 13 | Complement deficiency (HP:0004431) | 5.20476987 |
| 14 | Abnormality of the level of lipoprotein cholesterol (HP:0010979) | 4.71309074 |
| 15 | Small epiphyses (HP:0010585) | 4.66214426 |
| 16 | Abnormality of methionine metabolism (HP:0010901) | 4.61517324 |
| 17 | Hyperammonemia (HP:0001987) | 4.56998951 |
| 18 | Spontaneous abortion (HP:0005268) | 4.31583165 |
| 19 | Abnormality of aspartate family amino acid metabolism (HP:0010899) | 4.28064231 |
| 20 | Abnormality of sulfur amino acid metabolism (HP:0004339) | 4.25988061 |
| 21 | Ketosis (HP:0001946) | 4.15813386 |
| 22 | Abnormality of glutamine family amino acid metabolism (HP:0010902) | 4.10681977 |
| 23 | Epidermoid cyst (HP:0200040) | 4.03024767 |
| 24 | Abnormality of the intrinsic pathway (HP:0010989) | 3.90674332 |
| 25 | Abnormality of carpal bone ossification (HP:0006257) | 3.86474379 |
| 26 | Abnormality of complement system (HP:0005339) | 3.84089648 |
| 27 | Abnormality of pyrimidine metabolism (HP:0004353) | 3.80727032 |
| 28 | Hypoglycemic coma (HP:0001325) | 3.69935869 |
| 29 | Hyperglycinemia (HP:0002154) | 3.58334024 |
| 30 | Abnormal tarsal ossification (HP:0008369) | 3.52577041 |
| 31 | Broad alveolar ridges (HP:0000187) | 3.49732997 |
| 32 | Fat malabsorption (HP:0002630) | 3.46449620 |
| 33 | Flat acetabular roof (HP:0003180) | 3.40591945 |
| 34 | Amyloidosis (HP:0011034) | 3.39548883 |
| 35 | Hepatocellular carcinoma (HP:0001402) | 3.37043349 |
| 36 | Hypercholesterolemia (HP:0003124) | 3.36384029 |
| 37 | Hyperglycinuria (HP:0003108) | 3.31553382 |
| 38 | Abnormality of glycine metabolism (HP:0010895) | 3.30230127 |
| 39 | Abnormality of serine family amino acid metabolism (HP:0010894) | 3.30230127 |
| 40 | Hyperbilirubinemia (HP:0002904) | 3.29745030 |
| 41 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 3.27214391 |
| 42 | Hypochromic microcytic anemia (HP:0004840) | 3.25629289 |
| 43 | Gingival bleeding (HP:0000225) | 3.16483021 |
| 44 | Purpura (HP:0000979) | 3.11840782 |
| 45 | Epiphyseal dysplasia (HP:0002656) | 3.11631245 |
| 46 | Abnormality of fatty-acid metabolism (HP:0004359) | 3.11464196 |
| 47 | Pancreatic islet-cell hyperplasia (HP:0004510) | 3.06919432 |
| 48 | Broad palm (HP:0001169) | 3.06028564 |
| 49 | Abnormality of long-chain fatty-acid metabolism (HP:0010964) | 3.04861508 |
| 50 | Abnormality of nucleobase metabolism (HP:0010932) | 3.01162055 |
| 51 | Asymmetry of the thorax (HP:0001555) | 2.98383335 |
| 52 | Gout (HP:0001997) | 2.97220526 |
| 53 | Abnormal ossification of hand bones (HP:0005921) | 2.90076554 |
| 54 | Abnormal hand bone ossification (HP:0010660) | 2.87098730 |
| 55 | Glomerulonephritis (HP:0000099) | 2.86347454 |
| 56 | Acanthocytosis (HP:0001927) | 2.86023848 |
| 57 | Vaginal fistula (HP:0004320) | 2.80295154 |
| 58 | Conjugated hyperbilirubinemia (HP:0002908) | 2.80052438 |
| 59 | Systemic lupus erythematosus (HP:0002725) | 2.75497509 |
| 60 | Irregular epiphyses (HP:0010582) | 2.72481811 |
| 61 | Metabolic acidosis (HP:0001942) | 2.72287938 |
| 62 | Abnormality of serum amino acid levels (HP:0003112) | 2.71344639 |
| 63 | Thrombophlebitis (HP:0004418) | 2.68302837 |
| 64 | Hepatoblastoma (HP:0002884) | 2.66014211 |
| 65 | Cholecystitis (HP:0001082) | 2.64860778 |
| 66 | Abnormal gallbladder physiology (HP:0012438) | 2.64860778 |
| 67 | Ketoacidosis (HP:0001993) | 2.64687936 |
| 68 | Abnormality of purine metabolism (HP:0004352) | 2.61379567 |
| 69 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 2.61281251 |
| 70 | Absent epiphyses (HP:0010577) | 2.61281251 |
| 71 | Myocardial infarction (HP:0001658) | 2.55115324 |
| 72 | Increased serum pyruvate (HP:0003542) | 2.54393041 |
| 73 | Menorrhagia (HP:0000132) | 2.53823655 |
| 74 | Delayed CNS myelination (HP:0002188) | 2.53735314 |
| 75 | Lethargy (HP:0001254) | 2.53677753 |
| 76 | Skin nodule (HP:0200036) | 2.53642546 |
| 77 | Abnormality of the nasal septum (HP:0000419) | 2.53587033 |
| 78 | Abnormal gallbladder morphology (HP:0012437) | 2.52744693 |
| 79 | Cholelithiasis (HP:0001081) | 2.51176151 |
| 80 | Abnormality of glycolysis (HP:0004366) | 2.50149969 |
| 81 | Esophageal varix (HP:0002040) | 2.49352261 |
| 82 | Steatorrhea (HP:0002570) | 2.49308779 |
| 83 | Cerebral edema (HP:0002181) | 2.48964715 |
| 84 | Enlarged kidneys (HP:0000105) | 2.44817695 |
| 85 | Flared iliac wings (HP:0002869) | 2.43278607 |
| 86 | Poikilocytosis (HP:0004447) | 2.41761608 |
| 87 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.40618535 |
| 88 | Diastasis recti (HP:0001540) | 2.38235052 |
| 89 | Hypophosphatemic rickets (HP:0004912) | 2.37384393 |
| 90 | Abnormality of the wing of the ilium (HP:0011867) | 2.37182389 |
| 91 | Abnormality of the lumbar spine (HP:0100712) | 2.36461141 |
| 92 | Recurrent gram-negative bacterial infections (HP:0005420) | 2.36231600 |
| 93 | Abnormality of dicarboxylic acid metabolism (HP:0010995) | 2.35285161 |
| 94 | Dicarboxylic aciduria (HP:0003215) | 2.35285161 |
| 95 | Vascular calcification (HP:0004934) | 2.34976809 |
| 96 | Irritability (HP:0000737) | 2.34630130 |
| 97 | Spastic diplegia (HP:0001264) | 2.30156865 |
| 98 | Neonatal onset (HP:0003623) | 2.29994092 |
| 99 | Abnormal foot bone ossification (HP:0010675) | 2.29252724 |
| 100 | Pancreatitis (HP:0001733) | 2.27161230 |
| 101 | Hypoglycemic seizures (HP:0002173) | 2.26793178 |
| 102 | Protrusio acetabuli (HP:0003179) | 2.22527483 |
| 103 | Limited elbow extension (HP:0001377) | 2.21200309 |
| 104 | Cupped ribs (HP:0000887) | 2.19770633 |
| 105 | Alacrima (HP:0000522) | 2.19517947 |
| 106 | Mitral stenosis (HP:0001718) | 2.19242173 |
| 107 | Abnormality of iron homeostasis (HP:0011031) | 2.16374981 |
| 108 | Arthropathy (HP:0003040) | 2.13579325 |
| 109 | Abnormality of the acetabulum (HP:0003170) | 2.10265785 |
| 110 | Cardiovascular calcification (HP:0011915) | 2.09504094 |
| 111 | Facial shape deformation (HP:0011334) | 2.08583799 |
| 112 | Potter facies (HP:0002009) | 2.08583799 |
| 113 | Vomiting (HP:0002013) | 2.07206739 |
| 114 | Abnormality of transition element cation homeostasis (HP:0011030) | 2.05129609 |
| 115 | Abnormality of the gallbladder (HP:0005264) | 2.02017781 |
| 116 | Nephritis (HP:0000123) | 1.97979859 |
| 117 | Hemorrhage of the eye (HP:0011885) | 1.97621975 |
| 118 | Neonatal death (HP:0003811) | 1.96090067 |
| 119 | Increased purine levels (HP:0004368) | 1.94763876 |
| 120 | Hyperuricemia (HP:0002149) | 1.94763876 |
| 121 | Sensorimotor neuropathy (HP:0007141) | 1.94712072 |
| 122 | Malnutrition (HP:0004395) | 1.93191043 |
| 123 | Generalized aminoaciduria (HP:0002909) | 1.92692157 |
| 124 | Scanning speech (HP:0002168) | 1.92566560 |
| 125 | Epistaxis (HP:0000421) | 1.91861266 |
| 126 | Abnormality of pain sensation (HP:0010832) | 1.90747918 |
| 127 | Impaired pain sensation (HP:0007328) | 1.90747918 |
| 128 | Wide nose (HP:0000445) | 1.89967673 |
| 129 | Joint swelling (HP:0001386) | 1.89559290 |
| 130 | Pulmonary embolism (HP:0002204) | 1.89525812 |
| 131 | Hydroxyprolinuria (HP:0003080) | 1.88700284 |
| 132 | Abnormality of proline metabolism (HP:0010907) | 1.88700284 |
| 133 | Abnormality of endocrine pancreas physiology (HP:0012093) | 1.88419256 |
| 134 | Abnormality of the pancreatic islet cells (HP:0006476) | 1.88419256 |
| 135 | Late onset (HP:0003584) | 1.87644444 |
| 136 | Hypertriglyceridemia (HP:0002155) | 1.87265607 |
| 137 | Renal duplication (HP:0000075) | 1.86378514 |
| 138 | Alkalosis (HP:0001948) | 1.84628570 |
| 139 | Brushfield spots (HP:0001088) | 1.84512925 |
| 140 | Hyperinsulinemic hypoglycemia (HP:0000825) | 1.82249428 |
| 141 | Elevated hepatic transaminases (HP:0002910) | 1.81425134 |
| 142 | Reticulocytosis (HP:0001923) | 1.79366035 |
| 143 | Rickets (HP:0002748) | 1.79189907 |
| 144 | Abnormality of the Achilles tendon (HP:0005109) | 1.79095165 |
| 145 | Increased serum ferritin (HP:0003281) | 1.78572063 |
| 146 | Confusion (HP:0001289) | 1.77122450 |
| 147 | Metaphyseal irregularity (HP:0003025) | 1.77106113 |
| 148 | Pigmentary retinal degeneration (HP:0001146) | 1.76993072 |
| 149 | Coxa vara (HP:0002812) | 1.76404012 |
| 150 | Abnormal cartilage morphology (HP:0002763) | 1.75621257 |
| 151 | Abnormality of the alveolar ridges (HP:0006477) | 1.74205601 |
| 152 | Supernumerary spleens (HP:0009799) | 1.70989139 |
| 153 | Submucous cleft hard palate (HP:0000176) | 1.67234746 |
| 154 | Abnormal delivery (HP:0001787) | 1.66407415 |
| 155 | Osteomalacia (HP:0002749) | 1.65496596 |
| 156 | Bifid scrotum (HP:0000048) | 1.65421789 |
| 157 | Widely patent fontanelles and sutures (HP:0004492) | 1.64410203 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | BCKDK | 7.60423511 |
| 2 | ERN1 | 5.40175192 |
| 3 | FGFR4 | 4.75045765 |
| 4 | WNK4 | 4.30127736 |
| 5 | SIK1 | 3.07711105 |
| 6 | ERBB4 | 3.07509909 |
| 7 | TYRO3 | 3.05455414 |
| 8 | CDK12 | 2.81389445 |
| 9 | INSRR | 2.53334698 |
| 10 | FGFR1 | 2.37003308 |
| 11 | PIK3CA | 2.35149315 |
| 12 | TRIB3 | 2.32905396 |
| 13 | MAP2K4 | 2.28632115 |
| 14 | MAPK11 | 2.22842999 |
| 15 | TAOK3 | 2.21908742 |
| 16 | MST1R | 2.18203159 |
| 17 | PKN2 | 2.13600459 |
| 18 | WNK1 | 2.09562642 |
| 19 | EEF2K | 1.89070935 |
| 20 | SIK2 | 1.88184064 |
| 21 | DAPK2 | 1.77393266 |
| 22 | TYK2 | 1.73516516 |
| 23 | PTK6 | 1.71923561 |
| 24 | AKT3 | 1.71269435 |
| 25 | FLT3 | 1.67406273 |
| 26 | EPHB1 | 1.61012941 |
| 27 | KDR | 1.51366201 |
| 28 | GRK6 | 1.50667926 |
| 29 | DDR2 | 1.46907743 |
| 30 | ABL2 | 1.42476773 |
| 31 | NEK9 | 1.41465501 |
| 32 | IRAK3 | 1.32507643 |
| 33 | JAK2 | 1.31755706 |
| 34 | EPHA3 | 1.31348428 |
| 35 | ERBB2 | 1.30954775 |
| 36 | LATS1 | 1.25998963 |
| 37 | MAP2K3 | 1.12891008 |
| 38 | MAP3K11 | 1.12714543 |
| 39 | TBK1 | 1.10449613 |
| 40 | MAP3K3 | 1.07845541 |
| 41 | MAPK4 | 1.05975159 |
| 42 | LATS2 | 1.02949461 |
| 43 | CDK7 | 1.02446595 |
| 44 | MET | 1.00404579 |
| 45 | PRKAA2 | 1.00272550 |
| 46 | PIK3CG | 0.99906149 |
| 47 | STK39 | 0.99639059 |
| 48 | FGR | 0.98479321 |
| 49 | MAPKAPK3 | 0.96313018 |
| 50 | PINK1 | 0.96097456 |
| 51 | JAK1 | 0.95493429 |
| 52 | NEK2 | 0.95431130 |
| 53 | RIPK1 | 0.92225131 |
| 54 | MAPK12 | 0.91205876 |
| 55 | CAMK2G | 0.90663273 |
| 56 | TGFBR2 | 0.89542495 |
| 57 | PRKACG | 0.89353729 |
| 58 | MAP3K10 | 0.87766617 |
| 59 | BRSK1 | 0.87739577 |
| 60 | TIE1 | 0.86743069 |
| 61 | MAP3K7 | 0.82211598 |
| 62 | PTK2 | 0.80220732 |
| 63 | GSK3A | 0.79358936 |
| 64 | FRK | 0.78910784 |
| 65 | SMG1 | 0.78237316 |
| 66 | CDC42BPA | 0.78041840 |
| 67 | NEK1 | 0.77436174 |
| 68 | PRKCZ | 0.75166265 |
| 69 | FGFR2 | 0.74280843 |
| 70 | RPS6KB1 | 0.72508543 |
| 71 | MAP2K1 | 0.71733237 |
| 72 | SGK1 | 0.71400230 |
| 73 | CSK | 0.69400788 |
| 74 | CDK8 | 0.66808106 |
| 75 | DYRK1B | 0.64273762 |
| 76 | CDK6 | 0.60749742 |
| 77 | MAP3K6 | 0.59893928 |
| 78 | NTRK3 | 0.59848590 |
| 79 | NTRK2 | 0.58887597 |
| 80 | PDPK1 | 0.56202079 |
| 81 | MAP2K2 | 0.55123914 |
| 82 | MAP2K6 | 0.54909707 |
| 83 | PKN1 | 0.54742534 |
| 84 | MAPK15 | 0.52169706 |
| 85 | PRKAA1 | 0.51296893 |
| 86 | CSF1R | 0.49327220 |
| 87 | * CSNK1E | 0.48967267 |
| 88 | SGK3 | 0.47684417 |
| 89 | MATK | 0.47064394 |
| 90 | IKBKE | 0.46792909 |
| 91 | PRKCG | 0.45575811 |
| 92 | FGFR3 | 0.45236988 |
| 93 | MAP3K14 | 0.45160089 |
| 94 | MARK2 | 0.44696908 |
| 95 | MAPK7 | 0.44508077 |
| 96 | BRD4 | 0.43904698 |
| 97 | EGFR | 0.43318346 |
| 98 | EPHA2 | 0.43280749 |
| 99 | MAP4K1 | 0.43274224 |
| 100 | MAP3K1 | 0.43028872 |
| 101 | BMX | 0.42891139 |
| 102 | STK38L | 0.42792664 |
| 103 | RET | 0.42108654 |
| 104 | PRKCQ | 0.40929071 |
| 105 | BCR | 0.39553120 |
| 106 | MTOR | 0.39328189 |
| 107 | BRSK2 | 0.39028047 |
| 108 | CDK4 | 0.38662281 |
| 109 | EIF2AK1 | 0.35097915 |
| 110 | CAMK4 | 0.35034657 |
| 111 | PBK | 0.34962629 |
| 112 | SRC | 0.34718237 |
| 113 | PDK1 | 0.34414186 |
| 114 | MAP3K9 | 0.33869804 |
| 115 | SGK494 | 0.32522393 |
| 116 | SGK223 | 0.32522393 |
| 117 | CAMK1D | 0.32419137 |
| 118 | PAK3 | 0.32224262 |
| 119 | PDGFRB | 0.31496798 |
| 120 | RPS6KB2 | 0.31128527 |
| 121 | ICK | 0.31001333 |
| 122 | IGF1R | 0.30686124 |
| 123 | DAPK3 | 0.29766197 |
| 124 | MELK | 0.29229769 |
| 125 | MAP3K5 | 0.29102139 |
| 126 | PRKACB | 0.28896219 |
| 127 | EPHA4 | 0.28650439 |
| 128 | YES1 | 0.27920983 |
| 129 | CSNK1D | 0.27897432 |
| 130 | MAPKAPK5 | 0.27819873 |
| 131 | PRKCA | 0.27672981 |
| 132 | NTRK1 | 0.26607383 |
| 133 | GRK1 | 0.26491929 |
| 134 | SGK2 | 0.26271917 |
| 135 | CDK1 | 0.25953809 |
| 136 | CDK9 | 0.25431695 |
| 137 | KSR2 | 0.24838035 |
| 138 | PDGFRA | 0.24558014 |
| 139 | MAPKAPK2 | 0.24458500 |
| 140 | RPS6KA3 | 0.24244451 |
| 141 | EPHB2 | 0.24196572 |
| 142 | LMTK2 | 0.24163013 |
| 143 | ALK | 0.23780675 |
| 144 | MAP3K2 | 0.23609426 |
| 145 | CDK15 | 0.23349531 |
| 146 | MAPK10 | 0.21204186 |
| 147 | NME2 | 0.19816707 |
| 148 | MAPK3 | 0.19509455 |
| 149 | CSNK1G1 | 0.18008269 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 4.23516394 |
| 2 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 4.13317126 |
| 3 | Nitrogen metabolism_Homo sapiens_hsa00910 | 4.02944695 |
| 4 | Arginine biosynthesis_Homo sapiens_hsa00220 | 3.47447227 |
| 5 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 3.32866047 |
| 6 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 2.84027037 |
| 7 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 2.73040693 |
| 8 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 2.72465674 |
| 9 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 2.52400848 |
| 10 | Fatty acid degradation_Homo sapiens_hsa00071 | 2.46165097 |
| 11 | Tryptophan metabolism_Homo sapiens_hsa00380 | 2.44428715 |
| 12 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 2.23621749 |
| 13 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 2.06556253 |
| 14 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.03508699 |
| 15 | Peroxisome_Homo sapiens_hsa04146 | 1.98940757 |
| 16 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.98091459 |
| 17 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 1.91988110 |
| 18 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 1.87988982 |
| 19 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.85014403 |
| 20 | Other glycan degradation_Homo sapiens_hsa00511 | 1.79972251 |
| 21 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.77135750 |
| 22 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 1.75244535 |
| 23 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 1.73228259 |
| 24 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.72325155 |
| 25 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.71022463 |
| 26 | Histidine metabolism_Homo sapiens_hsa00340 | 1.69129113 |
| 27 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 1.68331024 |
| 28 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.67578324 |
| 29 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.61090565 |
| 30 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.59897954 |
| 31 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 1.54538877 |
| 32 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 1.53453334 |
| 33 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 1.48142247 |
| 34 | Tyrosine metabolism_Homo sapiens_hsa00350 | 1.43258919 |
| 35 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 1.40237715 |
| 36 | Bile secretion_Homo sapiens_hsa04976 | 1.38991935 |
| 37 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 1.36272523 |
| 38 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.35053809 |
| 39 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 1.34678619 |
| 40 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.34303163 |
| 41 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.32176925 |
| 42 | Steroid biosynthesis_Homo sapiens_hsa00100 | 1.30580474 |
| 43 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.28729151 |
| 44 | Retinol metabolism_Homo sapiens_hsa00830 | 1.26075887 |
| 45 | Sulfur metabolism_Homo sapiens_hsa00920 | 1.23658062 |
| 46 | Folate biosynthesis_Homo sapiens_hsa00790 | 1.23073186 |
| 47 | Carbon metabolism_Homo sapiens_hsa01200 | 1.21354895 |
| 48 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 1.18743020 |
| 49 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 1.10299317 |
| 50 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 1.07611427 |
| 51 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 1.06821472 |
| 52 | ABC transporters_Homo sapiens_hsa02010 | 1.06592875 |
| 53 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.04660286 |
| 54 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.01382013 |
| 55 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.99241104 |
| 56 | Sulfur relay system_Homo sapiens_hsa04122 | 0.99092666 |
| 57 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.97870340 |
| 58 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 0.95643349 |
| 59 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.93688834 |
| 60 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.93141711 |
| 61 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.81444247 |
| 62 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.76940713 |
| 63 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.72875398 |
| 64 | Lysine degradation_Homo sapiens_hsa00310 | 0.71505472 |
| 65 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.63409446 |
| 66 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.59485215 |
| 67 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.51916442 |
| 68 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.46308163 |
| 69 | Metabolic pathways_Homo sapiens_hsa01100 | 0.46009619 |
| 70 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 0.44470107 |
| 71 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.41810038 |
| 72 | Mineral absorption_Homo sapiens_hsa04978 | 0.40710971 |
| 73 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.40486213 |
| 74 | Galactose metabolism_Homo sapiens_hsa00052 | 0.36905573 |
| 75 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.34963585 |
| 76 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.34470911 |
| 77 | Prion diseases_Homo sapiens_hsa05020 | 0.32154796 |
| 78 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.30953834 |
| 79 | Insulin resistance_Homo sapiens_hsa04931 | 0.26657256 |
| 80 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.25844502 |
| 81 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.24912067 |
| 82 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.21982414 |
| 83 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.17822107 |
| 84 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.17534246 |
| 85 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.17508684 |
| 86 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 0.16896402 |
| 87 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.13490972 |
| 88 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.12877964 |
| 89 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 0.09676086 |
| 90 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.09147525 |
| 91 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.08171485 |
| 92 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.07878094 |
| 93 | Adherens junction_Homo sapiens_hsa04520 | 0.07271408 |
| 94 | Circadian rhythm_Homo sapiens_hsa04710 | 0.04333758 |
| 95 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 0.03220163 |
| 96 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.01360913 |
| 97 | Lysosome_Homo sapiens_hsa04142 | -0.2577349 |
| 98 | Regulation of autophagy_Homo sapiens_hsa04140 | -0.2488277 |
| 99 | Ether lipid metabolism_Homo sapiens_hsa00565 | -0.2471208 |
| 100 | Pertussis_Homo sapiens_hsa05133 | -0.2053849 |
| 101 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | -0.1901241 |
| 102 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | -0.1813755 |
| 103 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | -0.1791436 |
| 104 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | -0.1594964 |
| 105 | Bladder cancer_Homo sapiens_hsa05219 | -0.1561839 |
| 106 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | -0.1314596 |
| 107 | Hepatitis C_Homo sapiens_hsa05160 | -0.1274098 |
| 108 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | -0.1070151 |
| 109 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | -0.1056918 |
| 110 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | -0.0995700 |
| 111 | Renin-angiotensin system_Homo sapiens_hsa04614 | -0.0855832 |
| 112 | Insulin signaling pathway_Homo sapiens_hsa04910 | -0.0853319 |
| 113 | African trypanosomiasis_Homo sapiens_hsa05143 | -0.0444596 |
| 114 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | -0.0435639 |
| 115 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | -0.0387280 |
| 116 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | -0.0111468 |
| 117 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | -0.0006245 |

