

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222) | 7.14609865 |
| 2 | L-phenylalanine catabolic process (GO:0006559) | 7.14609865 |
| 3 | erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221) | 6.88668919 |
| 4 | L-phenylalanine metabolic process (GO:0006558) | 6.88668919 |
| 5 | negative regulation of protein activation cascade (GO:2000258) | 6.36459290 |
| 6 | aromatic amino acid family catabolic process (GO:0009074) | 6.35111133 |
| 7 | negative regulation of complement activation (GO:0045916) | 6.17419862 |
| 8 | regulation of protein activation cascade (GO:2000257) | 5.93883205 |
| 9 | regulation of complement activation (GO:0030449) | 5.74383864 |
| 10 | indole-containing compound catabolic process (GO:0042436) | 5.72847731 |
| 11 | indolalkylamine catabolic process (GO:0046218) | 5.72847731 |
| 12 | tryptophan catabolic process (GO:0006569) | 5.72847731 |
| 13 | glyoxylate metabolic process (GO:0046487) | 5.71853463 |
| 14 | kynurenine metabolic process (GO:0070189) | 5.71153033 |
| 15 | triglyceride-rich lipoprotein particle remodeling (GO:0034370) | 5.66405048 |
| 16 | cysteine metabolic process (GO:0006534) | 5.46405243 |
| 17 | bile acid biosynthetic process (GO:0006699) | 5.39069885 |
| 18 | tryptophan metabolic process (GO:0006568) | 5.34073182 |
| 19 | sulfur amino acid catabolic process (GO:0000098) | 5.26111745 |
| 20 | negative regulation of fibrinolysis (GO:0051918) | 5.21021912 |
| 21 | protein carboxylation (GO:0018214) | 5.15060974 |
| 22 | peptidyl-glutamic acid carboxylation (GO:0017187) | 5.15060974 |
| 23 | alpha-linolenic acid metabolic process (GO:0036109) | 5.11059695 |
| 24 | high-density lipoprotein particle remodeling (GO:0034375) | 4.96504040 |
| 25 | urea cycle (GO:0000050) | 4.93936966 |
| 26 | urea metabolic process (GO:0019627) | 4.93936966 |
| 27 | regulation of fibrinolysis (GO:0051917) | 4.92309371 |
| 28 | fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540) | 4.84534705 |
| 29 | serine family amino acid catabolic process (GO:0009071) | 4.82482648 |
| 30 | lysine catabolic process (GO:0006554) | 4.71289062 |
| 31 | lysine metabolic process (GO:0006553) | 4.71289062 |
| 32 | complement activation, alternative pathway (GO:0006957) | 4.60898686 |
| 33 | bile acid metabolic process (GO:0008206) | 4.59361476 |
| 34 | aromatic amino acid family metabolic process (GO:0009072) | 4.57489907 |
| 35 | nitrogen cycle metabolic process (GO:0071941) | 4.55213874 |
| 36 | homocysteine metabolic process (GO:0050667) | 4.43570905 |
| 37 | regulation of cholesterol esterification (GO:0010872) | 4.39133692 |
| 38 | reverse cholesterol transport (GO:0043691) | 4.35589681 |
| 39 | alpha-amino acid catabolic process (GO:1901606) | 4.34898452 |
| 40 | regulation of triglyceride catabolic process (GO:0010896) | 4.33745009 |
| 41 | cellular ketone body metabolic process (GO:0046950) | 4.31607916 |
| 42 | blood coagulation, intrinsic pathway (GO:0007597) | 4.30489291 |
| 43 | amino-acid betaine metabolic process (GO:0006577) | 4.28597150 |
| 44 | intestinal cholesterol absorption (GO:0030299) | 4.24753325 |
| 45 | fibrinolysis (GO:0042730) | 4.22605877 |
| 46 | tyrosine metabolic process (GO:0006570) | 4.20851768 |
| 47 | protein-lipid complex remodeling (GO:0034368) | 4.18961959 |
| 48 | macromolecular complex remodeling (GO:0034367) | 4.18961959 |
| 49 | plasma lipoprotein particle remodeling (GO:0034369) | 4.18961959 |
| 50 | acylglycerol homeostasis (GO:0055090) | 4.16220174 |
| 51 | triglyceride homeostasis (GO:0070328) | 4.16220174 |
| 52 | cellular modified amino acid catabolic process (GO:0042219) | 4.15816995 |
| 53 | glutamate metabolic process (GO:0006536) | 4.13605959 |
| 54 | serine family amino acid metabolic process (GO:0009069) | 4.12540633 |
| 55 | negative regulation of humoral immune response (GO:0002921) | 4.12200400 |
| 56 | coenzyme catabolic process (GO:0009109) | 4.11671459 |
| 57 | plasma lipoprotein particle clearance (GO:0034381) | 4.08878514 |
| 58 | cellular amino acid catabolic process (GO:0009063) | 4.08718697 |
| 59 | glycine metabolic process (GO:0006544) | 4.08109888 |
| 60 | cellular glucuronidation (GO:0052695) | 4.07416773 |
| 61 | negative regulation of sterol transport (GO:0032372) | 4.05460757 |
| 62 | negative regulation of cholesterol transport (GO:0032375) | 4.05460757 |
| 63 | serine family amino acid biosynthetic process (GO:0009070) | 3.99829606 |
| 64 | indolalkylamine metabolic process (GO:0006586) | 3.96143232 |
| 65 | cellular biogenic amine catabolic process (GO:0042402) | 3.94984127 |
| 66 | amine catabolic process (GO:0009310) | 3.94984127 |
| 67 | phospholipid efflux (GO:0033700) | 3.93908621 |
| 68 | complement activation, classical pathway (GO:0006958) | 3.93461573 |
| 69 | benzene-containing compound metabolic process (GO:0042537) | 3.92266818 |
| 70 | protein-lipid complex assembly (GO:0065005) | 3.90508946 |
| 71 | dicarboxylic acid biosynthetic process (GO:0043650) | 3.89962321 |
| 72 | bile acid and bile salt transport (GO:0015721) | 3.89460201 |
| 73 | ethanol oxidation (GO:0006069) | 3.83672850 |
| 74 | regulation of plasminogen activation (GO:0010755) | 3.80773792 |
| 75 | protein activation cascade (GO:0072376) | 3.80528987 |
| 76 | complement activation (GO:0006956) | 3.77809735 |
| 77 | cholesterol efflux (GO:0033344) | 3.76415287 |
| 78 | imidazole-containing compound metabolic process (GO:0052803) | 3.74658457 |
| 79 | drug catabolic process (GO:0042737) | 3.74625150 |
| 80 | proline metabolic process (GO:0006560) | 3.71860138 |
| 81 | ketone body metabolic process (GO:1902224) | 3.71098693 |
| 82 | very-low-density lipoprotein particle assembly (GO:0034379) | 3.67371149 |
| 83 | drug transmembrane transport (GO:0006855) | 3.66476812 |
| 84 | uronic acid metabolic process (GO:0006063) | 3.65891903 |
| 85 | glucuronate metabolic process (GO:0019585) | 3.65891903 |
| 86 | aldehyde catabolic process (GO:0046185) | 3.62917246 |
| 87 | aspartate family amino acid catabolic process (GO:0009068) | 3.62329259 |
| 88 | regulation of cholesterol homeostasis (GO:2000188) | 3.62015629 |
| 89 | organic acid catabolic process (GO:0016054) | 3.59340738 |
| 90 | carboxylic acid catabolic process (GO:0046395) | 3.59340738 |
| 91 | urate metabolic process (GO:0046415) | 3.58752473 |
| 92 | acetyl-CoA metabolic process (GO:0006084) | 3.57584675 |
| 93 | positive regulation of triglyceride lipase activity (GO:0061365) | 3.56571105 |
| 94 | positive regulation of lipoprotein lipase activity (GO:0051006) | 3.56571105 |
| 95 | arginine metabolic process (GO:0006525) | 3.54599218 |
| 96 | short-chain fatty acid metabolic process (GO:0046459) | 3.54328081 |
| 97 | cholesterol homeostasis (GO:0042632) | 3.53589511 |
| 98 | plasma lipoprotein particle assembly (GO:0034377) | 3.51449530 |
| 99 | phospholipid homeostasis (GO:0055091) | 3.49683112 |
| 100 | sterol homeostasis (GO:0055092) | 3.49574594 |
| 101 | regulation of apoptotic cell clearance (GO:2000425) | 3.46331298 |
| 102 | 2-oxoglutarate metabolic process (GO:0006103) | 3.45977532 |
| 103 | fatty acid beta-oxidation (GO:0006635) | 3.41947849 |
| 104 | opsonization (GO:0008228) | 3.41164434 |
| 105 | proline biosynthetic process (GO:0006561) | 3.40970974 |
| 106 | positive regulation of fatty acid biosynthetic process (GO:0045723) | 3.40744416 |
| 107 | low-density lipoprotein particle remodeling (GO:0034374) | 3.39250157 |
| 108 | cofactor catabolic process (GO:0051187) | 3.39185069 |
| 109 | fatty acid oxidation (GO:0019395) | 3.36903277 |
| 110 | L-alpha-amino acid transmembrane transport (GO:1902475) | 3.36350256 |
| 111 | oligosaccharide catabolic process (GO:0009313) | 3.32987088 |
| 112 | pinocytosis (GO:0006907) | 3.27384310 |
| 113 | negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471) | 3.22516714 |
| 114 | plasma lipoprotein particle organization (GO:0071827) | 3.21507929 |
| 115 | GDP-mannose metabolic process (GO:0019673) | 3.20227900 |
| 116 | protein maturation by protein folding (GO:0022417) | 3.20185490 |
| 117 | hyaluronan catabolic process (GO:0030214) | 3.20111538 |
| 118 | 4-hydroxyproline metabolic process (GO:0019471) | 3.18562850 |
| 119 | protein-lipid complex subunit organization (GO:0071825) | 3.17885552 |
| 120 | regulation of extracellular matrix disassembly (GO:0010715) | 3.16549711 |
| 121 | galactose catabolic process (GO:0019388) | 3.13536370 |
| 122 | Golgi transport vesicle coating (GO:0048200) | 3.10579713 |
| 123 | COPI coating of Golgi vesicle (GO:0048205) | 3.10579713 |
| 124 | negative regulation of hemostasis (GO:1900047) | 3.06881314 |
| 125 | negative regulation of blood coagulation (GO:0030195) | 3.06881314 |
| 126 | maintenance of protein localization in endoplasmic reticulum (GO:0035437) | 3.04185937 |
| 127 | protein retention in ER lumen (GO:0006621) | 3.01807085 |
| 128 | acute-phase response (GO:0006953) | 2.97007627 |
| 129 | regulation of cholesterol biosynthetic process (GO:0045540) | 2.92598683 |
| 130 | negative regulation of coagulation (GO:0050819) | 2.89553721 |
| 131 | low-density lipoprotein particle clearance (GO:0034383) | 2.82319164 |
| 132 | glycosphingolipid catabolic process (GO:0046479) | 2.78611080 |
| 133 | purine ribonucleotide transport (GO:0015868) | 2.76986449 |
| 134 | regulation of cholesterol metabolic process (GO:0090181) | 2.75851859 |
| 135 | glycolipid catabolic process (GO:0019377) | 2.74781146 |
| 136 | positive regulation of blood coagulation (GO:0030194) | 2.70790880 |
| 137 | positive regulation of hemostasis (GO:1900048) | 2.70790880 |
| 138 | positive regulation of extracellular matrix organization (GO:1903055) | 2.70248415 |
| 139 | regulation of metalloenzyme activity (GO:0048552) | 2.69700944 |
| 140 | regulation of extracellular matrix organization (GO:1903053) | 2.69480156 |
| 141 | positive regulation of coagulation (GO:0050820) | 2.68929596 |
| 142 | regulation of fatty acid biosynthetic process (GO:0042304) | 2.67060145 |
| 143 | sphingolipid catabolic process (GO:0030149) | 2.64198346 |
| 144 | fat-soluble vitamin biosynthetic process (GO:0042362) | 2.62160530 |
| 145 | membrane lipid catabolic process (GO:0046466) | 2.60504285 |
| 146 | negative regulation of wound healing (GO:0061045) | 2.59958900 |
| 147 | positive regulation of steroid metabolic process (GO:0045940) | 2.58635399 |
| 148 | cholesterol transport (GO:0030301) | 2.58006494 |
| 149 | sterol transport (GO:0015918) | 2.58006494 |
| 150 | retrograde vesicle-mediated transport, Golgi to ER (GO:0006890) | 2.56613525 |
| 151 | regulation of cholesterol storage (GO:0010885) | 2.55973791 |
| 152 | amino sugar catabolic process (GO:0046348) | 2.55555752 |
| 153 | NADH metabolic process (GO:0006734) | 2.52075862 |
| 154 | glycogen catabolic process (GO:0005980) | 2.50360437 |
| 155 | negative regulation of myeloid cell apoptotic process (GO:0033033) | 2.49801440 |
| 156 | lipoprotein metabolic process (GO:0042157) | 2.48808559 |
| 157 | monosaccharide biosynthetic process (GO:0046364) | 2.47580178 |
| 158 | modified amino acid transport (GO:0072337) | 2.45690521 |
| 159 | L-serine metabolic process (GO:0006563) | 2.45477768 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | RXR_22158963_ChIP-Seq_LIVER_Mouse | 7.79650457 |
| 2 | PPARA_22158963_ChIP-Seq_LIVER_Mouse | 6.73580369 |
| 3 | * LXR_22158963_ChIP-Seq_LIVER_Mouse | 5.95848273 |
| 4 | EGR1_23403033_ChIP-Seq_LIVER_Mouse | 5.77305269 |
| 5 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 5.07096698 |
| 6 | FOXO1_23066095_ChIP-Seq_LIVER_Mouse | 4.95251454 |
| 7 | CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 4.26027653 |
| 8 | NR1I2_20693526_ChIP-Seq_LIVER_Mouse | 3.67987152 |
| 9 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 3.21915870 |
| 10 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 2.55168838 |
| 11 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 2.39414783 |
| 12 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 2.28336230 |
| 13 | CLOCK_20551151_ChIP-Seq_293T_Human | 2.03483302 |
| 14 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 2.03057645 |
| 15 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 10.8780934 |
| 16 | TCF7L2_21901280_ChIP-Seq_H4IIE_Rat | 1.97442845 |
| 17 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.86205513 |
| 18 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 1.83357296 |
| 19 | HNF4A_19761587_ChIP-ChIP_CACO-2_Human | 1.79369381 |
| 20 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 1.78435947 |
| 21 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 1.63725195 |
| 22 | FOXA2_19822575_ChIP-Seq_HepG2_Human | 1.59050814 |
| 23 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.57386978 |
| 24 | P68_20966046_ChIP-Seq_HELA_Human | 1.55789860 |
| 25 | VDR_21846776_ChIP-Seq_THP-1_Human | 1.51418071 |
| 26 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 1.49660585 |
| 27 | DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 1.48868977 |
| 28 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.45646876 |
| 29 | CEBPB_24764292_ChIP-Seq_MC3T3_Mouse | 1.44874797 |
| 30 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 1.42445801 |
| 31 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 1.41336602 |
| 32 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.40518075 |
| 33 | HNF4A_19822575_ChIP-Seq_HepG2_Human | 1.34951309 |
| 34 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 1.34653734 |
| 35 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.28754845 |
| 36 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 1.25281612 |
| 37 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 1.24810044 |
| 38 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 1.24191355 |
| 39 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.22661205 |
| 40 | * RXRA_24833708_ChIP-Seq_LIVER_Mouse | 1.19653827 |
| 41 | CTCF_27219007_Chip-Seq_ERYTHROID_Human | 1.18312421 |
| 42 | HTT_18923047_ChIP-ChIP_STHdh_Human | 1.17405664 |
| 43 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 1.16950196 |
| 44 | BCL3_23251550_ChIP-Seq_MUSCLE_Mouse | 1.16191841 |
| 45 | SRF_21415370_ChIP-Seq_HL-1_Mouse | 1.15210550 |
| 46 | ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 1.14004726 |
| 47 | * PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse | 1.13623040 |
| 48 | ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 1.13162718 |
| 49 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.12750839 |
| 50 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.11897950 |
| 51 | GABP_19822575_ChIP-Seq_HepG2_Human | 1.11638407 |
| 52 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.11086286 |
| 53 | SRY_22984422_ChIP-ChIP_TESTIS_Rat | 1.11070727 |
| 54 | * CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 1.10063494 |
| 55 | ZNF263_19887448_ChIP-Seq_K562_Human | 1.09153625 |
| 56 | CTCF_18555785_ChIP-Seq_MESCs_Mouse | 1.09066875 |
| 57 | FLI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.08103555 |
| 58 | * PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse | 1.07561683 |
| 59 | NR0B1_18358816_ChIP-ChIP_MESCs_Mouse | 1.07459829 |
| 60 | * FOXP1_21924763_ChIP-Seq_HESCs_Human | 1.06914217 |
| 61 | STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse | 1.06708288 |
| 62 | KLF4_18358816_ChIP-ChIP_MESCs_Mouse | 1.06704013 |
| 63 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.06401425 |
| 64 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.06306820 |
| 65 | ZFP281_18358816_ChIP-ChIP_MESCs_Mouse | 1.05930800 |
| 66 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 1.05722615 |
| 67 | CTCF_21964334_Chip-Seq_Bcells_Human | 1.05319653 |
| 68 | CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 1.04680569 |
| 69 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.04632497 |
| 70 | SALL4_18804426_ChIP-ChIP_XEN_Mouse | 1.04445670 |
| 71 | * SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 1.03733935 |
| 72 | SOX2_27498859_Chip-Seq_STOMACH_Mouse | 1.03196008 |
| 73 | CTCF_26484167_Chip-Seq_Bcells_Mouse | 1.03164160 |
| 74 | RUNX1_20887958_ChIP-Seq_HPC-7_Mouse | 1.02370749 |
| 75 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 1.02013736 |
| 76 | SA1_27219007_Chip-Seq_Bcells_Human | 1.01863605 |
| 77 | CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse | 1.01380197 |
| 78 | TBX5_21415370_ChIP-Seq_HL-1_Mouse | 1.00957826 |
| 79 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 1.00180623 |
| 80 | SMC3_22415368_ChIP-Seq_MEFs_Mouse | 0.99693047 |
| 81 | NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human | 0.99414940 |
| 82 | SMC4_20622854_ChIP-Seq_HELA_Human | 0.98676605 |
| 83 | TP53_22127205_ChIP-Seq_IMR90_Human | 0.98646501 |
| 84 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 0.98380144 |
| 85 | E2F1_18555785_ChIP-Seq_MESCs_Mouse | 0.97616320 |
| 86 | ESR1_15608294_ChIP-ChIP_MCF-7_Human | 0.97298371 |
| 87 | * PU.1_20513432_ChIP-Seq_Bcells_Mouse | 0.96717207 |
| 88 | TFEB_21752829_ChIP-Seq_HELA_Human | 0.96157814 |
| 89 | * UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 0.95489370 |
| 90 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 0.94523053 |
| 91 | * MAF_26560356_Chip-Seq_TH2_Human | 0.93910055 |
| 92 | ZFX_18555785_ChIP-Seq_MESCs_Mouse | 0.93120272 |
| 93 | GATA4_25053715_ChIP-Seq_YYC3_Human | 0.92263932 |
| 94 | SREBP1_19666523_ChIP-Seq_LIVER_Mouse | 0.91514903 |
| 95 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 0.91443781 |
| 96 | * TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 0.91411553 |
| 97 | GATA1_22025678_ChIP-Seq_K562_Human | 0.86262797 |
| 98 | RACK7_27058665_Chip-Seq_MCF-7_Human | 0.86142371 |
| 99 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 0.85495907 |
| 100 | ESR1_22446102_ChIP-Seq_UTERUS_Mouse | 0.80039669 |
| 101 | EGR1_19032775_ChIP-ChIP_M12_Human | 0.79553445 |
| 102 | RARA_24833708_ChIP-Seq_LIVER_Mouse | 0.77982850 |
| 103 | AR_21915096_ChIP-Seq_LNCaP-1F5_Human | 0.76736298 |
| 104 | RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human | 0.75451163 |
| 105 | ERG_21242973_ChIP-ChIP_JURKAT_Human | 0.73721144 |
| 106 | FOXO3_23340844_ChIP-Seq_DLD1_Human | 0.72989063 |
| 107 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 0.70696148 |
| 108 | BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human | 0.70628027 |
| 109 | NFE2L2_20460467_ChIP-Seq_MEFs_Mouse | 0.69065261 |
| 110 | NRF2_20460467_ChIP-Seq_MEFs_Mouse | 0.69065261 |
| 111 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 0.68966337 |
| 112 | PPAR_26484153_Chip-Seq_NCI-H1993_Human | 0.67792847 |
| 113 | BMI1_19503595_ChIP-Seq_MEFsC_Mouse | 0.66627924 |
| 114 | TBX20_22328084_ChIP-Seq_HEART_Mouse | 0.66353051 |
| 115 | TBX20_22080862_ChIP-Seq_HEART_Mouse | 0.66353051 |
| 116 | SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 0.66091480 |
| 117 | * RARB_24833708_ChIP-Seq_LIVER_Mouse | 0.65723253 |
| 118 | SREBP2_21459322_ChIP-Seq_LIVER_Mouse | 0.65555670 |
| 119 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 0.64771129 |
| 120 | GATA1_19941826_ChIP-Seq_K562_Human | 0.64198825 |
| 121 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 0.63366437 |
| 122 | GATA3_20176728_ChIP-ChIP_TSCs_Mouse | 0.62479559 |
| 123 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 0.62027374 |
| 124 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 0.61846314 |
| 125 | RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 0.60718489 |
| 126 | ELK3_25401928_ChIP-Seq_HUVEC_Human | 0.60183624 |
| 127 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 0.59970501 |
| 128 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 0.58982563 |
| 129 | CSB_26484114_Chip-Seq_FIBROBLAST_Human | 0.58807621 |
| 130 | TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 0.58616003 |
| 131 | ATF3_27146783_Chip-Seq_COLON_Human | 0.57953231 |
| 132 | Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse | 0.57851811 |
| 133 | SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 0.57193043 |
| 134 | CDX2_20551321_ChIP-Seq_CACO-2_Human | 0.56466271 |
| 135 | CTCF_27219007_Chip-Seq_Bcells_Human | 0.56411513 |
| 136 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 0.55841341 |
| 137 | SOX2_20726797_ChIP-Seq_SW620_Human | 0.55488894 |
| 138 | STAT3_19079543_ChIP-ChIP_MESCs_Mouse | 0.55301590 |
| 139 | GATA3_24758297_ChIP-Seq_MCF-7_Human | 0.54824591 |
| 140 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 0.54738608 |
| 141 | FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human | 0.54026994 |
| 142 | TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 0.52512682 |
| 143 | GATA6_25053715_ChIP-Seq_YYC3_Human | 0.52498401 |
| 144 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 0.51648063 |
| 145 | ESET_19884257_ChIP-Seq_ESCs_Mouse | 0.51574707 |
| 146 | STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse | 0.50879530 |
| 147 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 0.50058261 |
| 148 | CEBPB_22108803_ChIP-Seq_LS180_Human | 0.49709468 |
| 149 | PPARG_20887899_ChIP-Seq_3T3-L1_Mouse | 0.49157091 |
| 150 | MYC_19915707_ChIP-ChIP_AK7_Human | 0.49084631 |
| 151 | CREB1_26743006_Chip-Seq_LNCaP-abl_Human | 0.47965748 |
| 152 | SOX2_18692474_ChIP-Seq_MEFs_Mouse | 0.47723901 |
| 153 | FOXA1_25552417_ChIP-Seq_VCAP_Human | 0.47625967 |
| 154 | ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.47336859 |
| 155 | CREB1_26743006_Chip-Seq_LNCaP_Human | 0.46871387 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0002139_abnormal_hepatobiliary_system | 7.62965630 |
| 2 | MP0005360_urolithiasis | 7.14624058 |
| 3 | MP0005085_abnormal_gallbladder_physiolo | 5.92761572 |
| 4 | MP0005365_abnormal_bile_salt | 5.78584671 |
| 5 | MP0008875_abnormal_xenobiotic_pharmacok | 4.52316970 |
| 6 | MP0003806_abnormal_nucleotide_metabolis | 4.18472221 |
| 7 | MP0003252_abnormal_bile_duct | 3.62986096 |
| 8 | MP0009840_abnormal_foam_cell | 3.60507603 |
| 9 | MP0010329_abnormal_lipoprotein_level | 3.39239875 |
| 10 | MP0005083_abnormal_biliary_tract | 3.05879316 |
| 11 | MP0005332_abnormal_amino_acid | 2.84872883 |
| 12 | MP0003195_calcinosis | 2.57996432 |
| 13 | MP0001666_abnormal_nutrient_absorption | 2.45084823 |
| 14 | MP0008260_abnormal_autophagy | 2.42431342 |
| 15 | MP0002837_dystrophic_cardiac_calcinosis | 2.34826043 |
| 16 | MP0003191_abnormal_cellular_cholesterol | 2.23307206 |
| 17 | MP0000751_myopathy | 2.20825096 |
| 18 | MP0004019_abnormal_vitamin_homeostasis | 2.12122809 |
| 19 | MP0002118_abnormal_lipid_homeostasis | 1.98711668 |
| 20 | MP0000609_abnormal_liver_physiology | 1.98402340 |
| 21 | MP0003705_abnormal_hypodermis_morpholog | 1.83426084 |
| 22 | MP0004233_abnormal_muscle_weight | 1.81471544 |
| 23 | MP0005319_abnormal_enzyme/_coenzyme | 1.78106759 |
| 24 | MP0002132_abnormal_respiratory_system | 1.72866357 |
| 25 | MP0002138_abnormal_hepatobiliary_system | 1.72733494 |
| 26 | MP0005257_abnormal_intraocular_pressure | 1.64007005 |
| 27 | MP0005584_abnormal_enzyme/coenzyme_acti | 1.59035485 |
| 28 | MP0003122_maternal_imprinting | 1.58115080 |
| 29 | MP0009643_abnormal_urine_homeostasis | 1.44605379 |
| 30 | MP0003868_abnormal_feces_composition | 1.40977001 |
| 31 | MP0008438_abnormal_cutaneous_collagen | 1.40490860 |
| 32 | MP0000747_muscle_weakness | 1.37642478 |
| 33 | MP0005451_abnormal_body_composition | 1.36386218 |
| 34 | MP0005410_abnormal_fertilization | 1.33625269 |
| 35 | MP0003186_abnormal_redox_activity | 1.32865635 |
| 36 | MP0010368_abnormal_lymphatic_system | 1.25748363 |
| 37 | MP0006082_CNS_inflammation | 1.23543154 |
| 38 | MP0005167_abnormal_blood-brain_barrier | 1.22671416 |
| 39 | MP0000604_amyloidosis | 1.21579042 |
| 40 | MP0001764_abnormal_homeostasis | 1.20736797 |
| 41 | MP0003436_decreased_susceptibility_to | 1.19530942 |
| 42 | MP0001849_ear_inflammation | 1.17671218 |
| 43 | MP0003075_altered_response_to | 1.16815948 |
| 44 | MP0000598_abnormal_liver_morphology | 1.16318489 |
| 45 | MP0003011_delayed_dark_adaptation | 1.16008028 |
| 46 | MP0002089_abnormal_postnatal_growth/wei | 1.15942440 |
| 47 | MP0010030_abnormal_orbit_morphology | 1.14533349 |
| 48 | MP0005636_abnormal_mineral_homeostasis | 1.13104946 |
| 49 | MP0005670_abnormal_white_adipose | 1.11898529 |
| 50 | MP0001915_intracranial_hemorrhage | 1.11296471 |
| 51 | MP0005058_abnormal_lysosome_morphology | 1.10515148 |
| 52 | MP0009697_abnormal_copulation | 1.08296739 |
| 53 | MP0003656_abnormal_erythrocyte_physiolo | 1.04028259 |
| 54 | MP0003123_paternal_imprinting | 1.03119758 |
| 55 | MP0005464_abnormal_platelet_physiology | 1.02535077 |
| 56 | MP0005377_hearing/vestibular/ear_phenot | 1.00617296 |
| 57 | MP0003878_abnormal_ear_physiology | 1.00617296 |
| 58 | MP0003566_abnormal_cell_adhesion | 0.98382053 |
| 59 | MP0003646_muscle_fatigue | 0.97821975 |
| 60 | MP0005084_abnormal_gallbladder_morpholo | 0.95645246 |
| 61 | MP0000750_abnormal_muscle_regeneration | 0.94480688 |
| 62 | MP0000003_abnormal_adipose_tissue | 0.94440043 |
| 63 | MP0006036_abnormal_mitochondrial_physio | 0.92979291 |
| 64 | MP0009780_abnormal_chondrocyte_physiolo | 0.92801039 |
| 65 | MP0000858_altered_metastatic_potential | 0.91581232 |
| 66 | MP0002254_reproductive_system_inflammat | 0.91374166 |
| 67 | MP0003879_abnormal_hair_cell | 0.90296936 |
| 68 | MP0001533_abnormal_skeleton_physiology | 0.88792203 |
| 69 | MP0002998_abnormal_bone_remodeling | 0.86590057 |
| 70 | MP0009763_increased_sensitivity_to | 0.84048832 |
| 71 | MP0005376_homeostasis/metabolism_phenot | 0.83924765 |
| 72 | MP0002269_muscular_atrophy | 0.82390561 |
| 73 | MP0009764_decreased_sensitivity_to | 0.82041545 |
| 74 | MP0009642_abnormal_blood_homeostasis | 0.80674449 |
| 75 | MP0002933_joint_inflammation | 0.80173336 |
| 76 | MP0004130_abnormal_muscle_cell | 0.79957713 |
| 77 | MP0000343_altered_response_to | 0.79159887 |
| 78 | MP0000767_abnormal_smooth_muscle | 0.78942790 |
| 79 | MP0000759_abnormal_skeletal_muscle | 0.78617122 |
| 80 | MP0005647_abnormal_sex_gland | 0.77881581 |
| 81 | MP0002419_abnormal_innate_immunity | 0.77617266 |
| 82 | MP0001756_abnormal_urination | 0.76105768 |
| 83 | MP0004087_abnormal_muscle_fiber | 0.75044179 |
| 84 | MP0005408_hypopigmentation | 0.74267412 |
| 85 | MP0005266_abnormal_metabolism | 0.73904264 |
| 86 | MP0008469_abnormal_protein_level | 0.73800981 |
| 87 | MP0005220_abnormal_exocrine_pancreas | 0.73396941 |
| 88 | MP0002971_abnormal_brown_adipose | 0.73127851 |
| 89 | MP0000013_abnormal_adipose_tissue | 0.72817510 |
| 90 | MP0002106_abnormal_muscle_physiology | 0.72683878 |
| 91 | MP0002078_abnormal_glucose_homeostasis | 0.72294681 |
| 92 | MP0000678_abnormal_parathyroid_gland | 0.70260953 |
| 93 | MP0000639_abnormal_adrenal_gland | 0.68696954 |
| 94 | MP0005375_adipose_tissue_phenotype | 0.65701548 |
| 95 | MP0003329_amyloid_beta_deposits | 0.65366875 |
| 96 | MP0009053_abnormal_anal_canal | 0.63894357 |
| 97 | MP0004084_abnormal_cardiac_muscle | 0.63823731 |
| 98 | MP0003453_abnormal_keratinocyte_physiol | 0.63472027 |
| 99 | MP0005369_muscle_phenotype | 0.62828705 |
| 100 | MP0004036_abnormal_muscle_relaxation | 0.60582584 |
| 101 | MP0002136_abnormal_kidney_physiology | 0.60577575 |
| 102 | MP0001853_heart_inflammation | 0.59820278 |
| 103 | MP0005666_abnormal_adipose_tissue | 0.59011982 |
| 104 | MP0002896_abnormal_bone_mineralization | 0.58484019 |
| 105 | MP0005334_abnormal_fat_pad | 0.57692548 |
| 106 | MP0006138_congestive_heart_failure | 0.57270968 |
| 107 | MP0006035_abnormal_mitochondrial_morpho | 0.56135186 |
| 108 | MP0003690_abnormal_glial_cell | 0.55585008 |
| 109 | MP0006054_spinal_hemorrhage | 0.54765411 |
| 110 | MP0005330_cardiomyopathy | 0.54142593 |
| 111 | MP0000749_muscle_degeneration | 0.54122126 |
| 112 | MP0009384_cardiac_valve_regurgitation | 0.53927371 |
| 113 | MP0001542_abnormal_bone_strength | 0.52789608 |
| 114 | MP0009765_abnormal_xenobiotic_induced | 0.52559835 |
| 115 | MP0004185_abnormal_adipocyte_glucose | 0.49190133 |
| 116 | MP0005535_abnormal_body_temperature | 0.48579787 |
| 117 | MP0001958_emphysema | 0.48564675 |
| 118 | MP0005164_abnormal_response_to | 0.48487339 |
| 119 | MP0005395_other_phenotype | 0.48230520 |
| 120 | MP0001661_extended_life_span | 0.47612000 |
| 121 | MP0000249_abnormal_blood_vessel | 0.46244444 |
| 122 | MP0005023_abnormal_wound_healing | 0.45691173 |
| 123 | MP0002796_impaired_skin_barrier | 0.45417339 |
| 124 | MP0002295_abnormal_pulmonary_circulatio | 0.43980899 |
| 125 | MP0003279_aneurysm | 0.42952851 |
| 126 | MP0003638_abnormal_response/metabolism_ | 0.42003915 |
| 127 | MP0004043_abnormal_pH_regulation | 0.41719789 |
| 128 | MP0004883_abnormal_blood_vessel | 0.41504233 |
| 129 | MP0002060_abnormal_skin_morphology | 0.41462385 |
| 130 | MP0004264_abnormal_extraembryonic_tissu | 0.40723676 |
| 131 | MP0004272_abnormal_basement_membrane | 0.39667034 |
| 132 | MP0001765_abnormal_ion_homeostasis | 0.39169807 |
| 133 | MP0003172_abnormal_lysosome_physiology | 0.39043919 |
| 134 | MP0009672_abnormal_birth_weight | 0.38991582 |
| 135 | MP0001879_abnormal_lymphatic_vessel | 0.38719193 |
| 136 | MP0003718_maternal_effect | 0.38613511 |
| 137 | MP0002876_abnormal_thyroid_physiology | 0.37808356 |
| 138 | MP0000538_abnormal_urinary_bladder | 0.37505039 |
| 139 | MP0002168_other_aberrant_phenotype | 0.36221802 |
| 140 | MP0001243_abnormal_dermal_layer | 0.36149901 |
| 141 | MP0003953_abnormal_hormone_level | 0.35827910 |
| 142 | MP0005595_abnormal_vascular_smooth | 0.34781037 |
| 143 | MP0002135_abnormal_kidney_morphology | 0.34145955 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Deep venous thrombosis (HP:0002625) | 6.91006477 |
| 2 | Abnormality of aromatic amino acid family metabolism (HP:0004338) | 6.76119641 |
| 3 | Intrahepatic cholestasis (HP:0001406) | 6.70634576 |
| 4 | Xanthomatosis (HP:0000991) | 6.03923979 |
| 5 | Abnormality of monocarboxylic acid metabolism (HP:0010996) | 5.90929069 |
| 6 | Prolonged partial thromboplastin time (HP:0003645) | 5.48822057 |
| 7 | Hypobetalipoproteinemia (HP:0003563) | 5.48260475 |
| 8 | Hyperlipoproteinemia (HP:0010980) | 5.16886263 |
| 9 | Complement deficiency (HP:0004431) | 4.57818519 |
| 10 | Hypolipoproteinemia (HP:0010981) | 4.49888298 |
| 11 | Hyperammonemia (HP:0001987) | 4.39369202 |
| 12 | Hypoalphalipoproteinemia (HP:0003233) | 4.27420596 |
| 13 | Systemic lupus erythematosus (HP:0002725) | 4.26399002 |
| 14 | Hyperglycinemia (HP:0002154) | 4.18841177 |
| 15 | Ketosis (HP:0001946) | 4.17681885 |
| 16 | Abnormality of the common coagulation pathway (HP:0010990) | 4.15207962 |
| 17 | Joint hemorrhage (HP:0005261) | 4.10739931 |
| 18 | Abnormality of glutamine family amino acid metabolism (HP:0010902) | 4.09527343 |
| 19 | Abnormality of the level of lipoprotein cholesterol (HP:0010979) | 3.98517595 |
| 20 | Hyperglycinuria (HP:0003108) | 3.91122280 |
| 21 | Abnormality of sulfur amino acid metabolism (HP:0004339) | 3.89781098 |
| 22 | Abnormality of serine family amino acid metabolism (HP:0010894) | 3.87563446 |
| 23 | Abnormality of glycine metabolism (HP:0010895) | 3.87563446 |
| 24 | Hypoglycemic coma (HP:0001325) | 3.83337511 |
| 25 | Abnormality of mucopolysaccharide metabolism (HP:0011020) | 3.79264499 |
| 26 | Abnormality of polysaccharide metabolism (HP:0011012) | 3.79264499 |
| 27 | Abnormality of glycosaminoglycan metabolism (HP:0004371) | 3.79264499 |
| 28 | Abnormality of aspartate family amino acid metabolism (HP:0010899) | 3.72092905 |
| 29 | Vacuolated lymphocytes (HP:0001922) | 3.70533391 |
| 30 | Epidermoid cyst (HP:0200040) | 3.67783088 |
| 31 | Abnormality of the intrinsic pathway (HP:0010989) | 3.67496360 |
| 32 | Urinary glycosaminoglycan excretion (HP:0003541) | 3.67177825 |
| 33 | Mucopolysacchariduria (HP:0008155) | 3.67177825 |
| 34 | Fat malabsorption (HP:0002630) | 3.66445057 |
| 35 | Abnormality of glycolipid metabolism (HP:0010969) | 3.64385457 |
| 36 | Abnormality of liposaccharide metabolism (HP:0010968) | 3.64385457 |
| 37 | Abnormality of glycosphingolipid metabolism (HP:0004343) | 3.64385457 |
| 38 | Glomerulonephritis (HP:0000099) | 3.60164730 |
| 39 | Abnormality of fatty-acid metabolism (HP:0004359) | 3.55419065 |
| 40 | Abnormality of methionine metabolism (HP:0010901) | 3.53704533 |
| 41 | Abnormality of long-chain fatty-acid metabolism (HP:0010964) | 3.33531151 |
| 42 | Conjugated hyperbilirubinemia (HP:0002908) | 3.29492707 |
| 43 | Dysostosis multiplex (HP:0000943) | 3.25591190 |
| 44 | Abnormality of complement system (HP:0005339) | 3.25317592 |
| 45 | Ketoacidosis (HP:0001993) | 3.11628159 |
| 46 | Hypercholesterolemia (HP:0003124) | 3.08197225 |
| 47 | Gout (HP:0001997) | 3.05002027 |
| 48 | Abnormality of pyrimidine metabolism (HP:0004353) | 3.01719158 |
| 49 | Hyperbilirubinemia (HP:0002904) | 3.00456911 |
| 50 | Asymmetric septal hypertrophy (HP:0001670) | 2.96324967 |
| 51 | Nuclear cataract (HP:0100018) | 2.94211900 |
| 52 | Abnormality of nucleobase metabolism (HP:0010932) | 2.94153012 |
| 53 | Delayed CNS myelination (HP:0002188) | 2.91320688 |
| 54 | Abnormality of purine metabolism (HP:0004352) | 2.90369940 |
| 55 | Hemorrhage of the eye (HP:0011885) | 2.84320466 |
| 56 | Vertebral compression fractures (HP:0002953) | 2.83669810 |
| 57 | Abnormality of serum amino acid levels (HP:0003112) | 2.81948582 |
| 58 | Spontaneous abortion (HP:0005268) | 2.81086631 |
| 59 | Nemaline bodies (HP:0003798) | 2.76896883 |
| 60 | Myocardial infarction (HP:0001658) | 2.74082772 |
| 61 | Ulnar deviation of the wrist (HP:0003049) | 2.73914012 |
| 62 | Loss of speech (HP:0002371) | 2.72117422 |
| 63 | Hepatocellular carcinoma (HP:0001402) | 2.69967648 |
| 64 | Skin nodule (HP:0200036) | 2.68678771 |
| 65 | Exercise-induced myalgia (HP:0003738) | 2.67804795 |
| 66 | Steatorrhea (HP:0002570) | 2.64958103 |
| 67 | Prolonged neonatal jaundice (HP:0006579) | 2.64404105 |
| 68 | Cervical subluxation (HP:0003308) | 2.64052336 |
| 69 | Metabolic acidosis (HP:0001942) | 2.61454769 |
| 70 | Vascular calcification (HP:0004934) | 2.60142823 |
| 71 | Right ventricular cardiomyopathy (HP:0011663) | 2.58890316 |
| 72 | Turricephaly (HP:0000262) | 2.57497435 |
| 73 | Dicarboxylic aciduria (HP:0003215) | 2.57037762 |
| 74 | Abnormality of dicarboxylic acid metabolism (HP:0010995) | 2.57037762 |
| 75 | Muscle fiber inclusion bodies (HP:0100299) | 2.54581386 |
| 76 | Gingival bleeding (HP:0000225) | 2.54323918 |
| 77 | Lethargy (HP:0001254) | 2.47853758 |
| 78 | Muscle fiber cytoplasmatic inclusion bodies (HP:0100303) | 2.45916557 |
| 79 | Sensorimotor neuropathy (HP:0007141) | 2.45859865 |
| 80 | Generalized aminoaciduria (HP:0002909) | 2.45787923 |
| 81 | Protrusio acetabuli (HP:0003179) | 2.44524954 |
| 82 | Malnutrition (HP:0004395) | 2.42756553 |
| 83 | Cardiovascular calcification (HP:0011915) | 2.40302761 |
| 84 | Myopathic facies (HP:0002058) | 2.39722954 |
| 85 | Distal lower limb muscle weakness (HP:0009053) | 2.39513919 |
| 86 | Neonatal onset (HP:0003623) | 2.33605456 |
| 87 | Hypoglycemic seizures (HP:0002173) | 2.32306651 |
| 88 | Reduced antithrombin III activity (HP:0001976) | 2.32265146 |
| 89 | Progressive neurologic deterioration (HP:0002344) | 2.29679871 |
| 90 | J-shaped sella turcica (HP:0002680) | 2.28387152 |
| 91 | Spastic diplegia (HP:0001264) | 2.28264124 |
| 92 | Mitral stenosis (HP:0001718) | 2.27910824 |
| 93 | Vomiting (HP:0002013) | 2.26775389 |
| 94 | Abnormal gallbladder morphology (HP:0012437) | 2.25968721 |
| 95 | Cholelithiasis (HP:0001081) | 2.24628674 |
| 96 | Abnormal cartilage morphology (HP:0002763) | 2.24491001 |
| 97 | Abnormality of macrophages (HP:0004311) | 2.21973422 |
| 98 | Abnormality of the Achilles tendon (HP:0005109) | 2.21551552 |
| 99 | Esophageal varix (HP:0002040) | 2.21247941 |
| 100 | Irritability (HP:0000737) | 2.19806163 |
| 101 | Hypochromic microcytic anemia (HP:0004840) | 2.19330465 |
| 102 | Proximal tubulopathy (HP:0000114) | 2.15475463 |
| 103 | Type I transferrin isoform profile (HP:0003642) | 2.14316569 |
| 104 | Cerebral edema (HP:0002181) | 2.13405718 |
| 105 | Cholecystitis (HP:0001082) | 2.11975675 |
| 106 | Abnormal gallbladder physiology (HP:0012438) | 2.11975675 |
| 107 | Joint stiffness (HP:0001387) | 2.11741864 |
| 108 | Abnormality of proline metabolism (HP:0010907) | 2.09582672 |
| 109 | Hydroxyprolinuria (HP:0003080) | 2.09582672 |
| 110 | Late onset (HP:0003584) | 2.07819650 |
| 111 | Amyloidosis (HP:0011034) | 2.06764330 |
| 112 | Menorrhagia (HP:0000132) | 2.06627605 |
| 113 | Increased purine levels (HP:0004368) | 2.06290976 |
| 114 | Hyperuricemia (HP:0002149) | 2.06290976 |
| 115 | Opisthotonus (HP:0002179) | 2.06097290 |
| 116 | Rhabdomyolysis (HP:0003201) | 2.03737502 |
| 117 | Increased serum ferritin (HP:0003281) | 2.02194060 |
| 118 | Hyperinsulinemic hypoglycemia (HP:0000825) | 2.01969473 |
| 119 | Pancreatitis (HP:0001733) | 2.01134261 |
| 120 | Rickets (HP:0002748) | 2.00808580 |
| 121 | Enlarged kidneys (HP:0000105) | 1.97590501 |
| 122 | Brushfield spots (HP:0001088) | 1.96935007 |
| 123 | Abnormality of transition element cation homeostasis (HP:0011030) | 1.95637374 |
| 124 | Type 1 muscle fiber predominance (HP:0003803) | 1.95506460 |
| 125 | Lymphangioma (HP:0100764) | 1.93841611 |
| 126 | Purpura (HP:0000979) | 1.92621908 |
| 127 | Polycythemia (HP:0001901) | 1.91993773 |
| 128 | Abnormal enzyme/coenzyme activity (HP:0012379) | 1.88940594 |
| 129 | Hypophosphatemic rickets (HP:0004912) | 1.88219769 |
| 130 | Abnormality of iron homeostasis (HP:0011031) | 1.87810456 |
| 131 | Bulbar palsy (HP:0001283) | 1.87228911 |
| 132 | Nephritis (HP:0000123) | 1.87151189 |
| 133 | Premature rupture of membranes (HP:0001788) | 1.86906797 |
| 134 | Abnormality of alkaline phosphatase activity (HP:0004379) | 1.86312720 |
| 135 | Alkalosis (HP:0001948) | 1.85843502 |
| 136 | Back pain (HP:0003418) | 1.85538703 |
| 137 | Increased cerebral lipofuscin (HP:0011813) | 1.84555867 |
| 138 | Glycosuria (HP:0003076) | 1.83153048 |
| 139 | Abnormality of urine glucose concentration (HP:0011016) | 1.83153048 |
| 140 | Easy fatigability (HP:0003388) | 1.82515173 |
| 141 | Hand muscle atrophy (HP:0009130) | 1.82188898 |
| 142 | Achilles tendon contracture (HP:0001771) | 1.81895987 |
| 143 | Vaginal fistula (HP:0004320) | 1.81668418 |
| 144 | Ragged-red muscle fibers (HP:0003200) | 1.81340104 |
| 145 | Metaphyseal irregularity (HP:0003025) | 1.81091260 |
| 146 | Ovoid vertebral bodies (HP:0003300) | 1.80441934 |
| 147 | Abnormality of the gallbladder (HP:0005264) | 1.80366707 |
| 148 | Axonal loss (HP:0003447) | 1.80320819 |
| 149 | Elevated alkaline phosphatase (HP:0003155) | 1.80194289 |
| 150 | Confusion (HP:0001289) | 1.79059571 |
| 151 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 1.78209304 |
| 152 | Abnormal protein N-linked glycosylation (HP:0012347) | 1.78209304 |
| 153 | Abnormal protein glycosylation (HP:0012346) | 1.78209304 |
| 154 | Abnormal glycosylation (HP:0012345) | 1.78209304 |
| 155 | Centrally nucleated skeletal muscle fibers (HP:0003687) | 1.77651353 |
| 156 | Thrombophlebitis (HP:0004418) | 1.77608161 |
| 157 | Distal upper limb amyotrophy (HP:0007149) | 1.76524116 |
| 158 | Upper limb amyotrophy (HP:0009129) | 1.76524116 |
| 159 | Abnormality of carpal bone ossification (HP:0006257) | 1.75774324 |
| 160 | Malignant hyperthermia (HP:0002047) | 1.75198608 |
| 161 | Cerebral aneurysm (HP:0004944) | 1.73372736 |
| 162 | Myoglobinuria (HP:0002913) | 1.71764261 |
| 163 | Generalized amyotrophy (HP:0003700) | 1.69257175 |
| 164 | Beaking of vertebral bodies (HP:0004568) | 1.68628258 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | BCKDK | 6.21771158 |
| 2 | ERN1 | 5.69252528 |
| 3 | MUSK | 5.17654389 |
| 4 | SIK1 | 3.94988008 |
| 5 | FGFR4 | 3.43993996 |
| 6 | TRIB3 | 3.22934003 |
| 7 | TESK1 | 2.85451896 |
| 8 | IRAK3 | 2.67145223 |
| 9 | PKN2 | 2.65466889 |
| 10 | TESK2 | 2.42241175 |
| 11 | TAOK3 | 2.11857106 |
| 12 | ERBB4 | 1.91234537 |
| 13 | MAPKAPK3 | 1.88950347 |
| 14 | PIM2 | 1.74420840 |
| 15 | BRAF | 1.70955667 |
| 16 | INSRR | 1.70788606 |
| 17 | BMX | 1.68766820 |
| 18 | LIMK1 | 1.68519811 |
| 19 | LATS1 | 1.63942980 |
| 20 | NME2 | 1.55568562 |
| 21 | STK38L | 1.55193111 |
| 22 | ABL2 | 1.53430796 |
| 23 | PTK6 | 1.45519295 |
| 24 | MAP3K7 | 1.39540302 |
| 25 | MAP2K3 | 1.38922075 |
| 26 | PINK1 | 1.38152721 |
| 27 | STK16 | 1.37410722 |
| 28 | PIK3CG | 1.35828594 |
| 29 | MAP2K4 | 1.35177886 |
| 30 | FGFR2 | 1.33461829 |
| 31 | MAP2K2 | 1.32254765 |
| 32 | MAPK11 | 1.31729730 |
| 33 | NEK9 | 1.28652818 |
| 34 | MAP3K1 | 1.28621392 |
| 35 | MST1R | 1.26685016 |
| 36 | MAP3K3 | 1.26414069 |
| 37 | MAP3K11 | 1.25761832 |
| 38 | EPHB2 | 1.24612791 |
| 39 | KDR | 1.21550762 |
| 40 | MAPK12 | 1.21326999 |
| 41 | LATS2 | 1.16621496 |
| 42 | ZAP70 | 1.14490315 |
| 43 | VRK2 | 1.13741336 |
| 44 | PDPK1 | 1.11513805 |
| 45 | PDGFRA | 1.11466155 |
| 46 | FGFR1 | 1.10662385 |
| 47 | MATK | 1.10600840 |
| 48 | SIK3 | 1.07438497 |
| 49 | PAK4 | 1.05871349 |
| 50 | TGFBR2 | 1.04915295 |
| 51 | PRKD2 | 1.02437371 |
| 52 | FGFR3 | 0.96326701 |
| 53 | TAOK2 | 0.95022584 |
| 54 | CSF1R | 0.93309141 |
| 55 | FLT3 | 0.92805804 |
| 56 | MAP2K6 | 0.91532067 |
| 57 | PTK2 | 0.89697597 |
| 58 | ICK | 0.88487434 |
| 59 | TYK2 | 0.87431595 |
| 60 | DYRK1B | 0.84313555 |
| 61 | MET | 0.81058218 |
| 62 | ARAF | 0.79710149 |
| 63 | TTN | 0.79649364 |
| 64 | PDK2 | 0.78869874 |
| 65 | MAP3K13 | 0.78648399 |
| 66 | TBK1 | 0.73761531 |
| 67 | BLK | 0.73323377 |
| 68 | PRKAA2 | 0.72635045 |
| 69 | FGR | 0.71787213 |
| 70 | CDC42BPA | 0.71304156 |
| 71 | NME1 | 0.70163702 |
| 72 | TIE1 | 0.69389995 |
| 73 | KSR2 | 0.67761813 |
| 74 | WNK4 | 0.67362763 |
| 75 | MAP4K1 | 0.67051469 |
| 76 | MOS | 0.65596334 |
| 77 | JAK2 | 0.64753994 |
| 78 | MAP3K8 | 0.64177241 |
| 79 | TAOK1 | 0.62980449 |
| 80 | MAP3K10 | 0.62764498 |
| 81 | MAP2K1 | 0.62523610 |
| 82 | MTOR | 0.61910617 |
| 83 | GSK3A | 0.61203333 |
| 84 | MAPK4 | 0.61057285 |
| 85 | EPHB1 | 0.60795966 |
| 86 | DAPK2 | 0.60770102 |
| 87 | PDK1 | 0.60360025 |
| 88 | GRK6 | 0.59497715 |
| 89 | RIPK1 | 0.58734294 |
| 90 | MYLK | 0.58197861 |
| 91 | CSK | 0.57495521 |
| 92 | CAMK2G | 0.57327333 |
| 93 | ERBB2 | 0.57304363 |
| 94 | PRKCZ | 0.57106355 |
| 95 | EPHA3 | 0.56221678 |
| 96 | MAP3K6 | 0.56093376 |
| 97 | CDK6 | 0.54510888 |
| 98 | LRRK2 | 0.54457477 |
| 99 | PRKAA1 | 0.54138386 |
| 100 | PAK3 | 0.53983501 |
| 101 | JAK3 | 0.53643828 |
| 102 | PRKG2 | 0.53442500 |
| 103 | ILK | 0.53390123 |
| 104 | CDK7 | 0.52704686 |
| 105 | RPS6KA2 | 0.50815603 |
| 106 | EPHA2 | 0.50024771 |
| 107 | OBSCN | 0.48271930 |
| 108 | PRKD1 | 0.47945451 |
| 109 | STK38 | 0.47714516 |
| 110 | PRKD3 | 0.47001106 |
| 111 | ROCK2 | 0.46183099 |
| 112 | ROCK1 | 0.45773870 |
| 113 | PDK3 | 0.45555164 |
| 114 | PDK4 | 0.45555164 |
| 115 | TYRO3 | 0.45153708 |
| 116 | PRKACG | 0.44754311 |
| 117 | MAP3K5 | 0.41308063 |
| 118 | IKBKB | 0.41075835 |
| 119 | PHKG1 | 0.40477136 |
| 120 | PHKG2 | 0.40477136 |
| 121 | FER | 0.40460709 |
| 122 | MAP3K14 | 0.40136029 |
| 123 | CSNK1G1 | 0.39909046 |
| 124 | LMTK2 | 0.39535364 |
| 125 | AKT2 | 0.39375332 |
| 126 | TNK2 | 0.39181999 |
| 127 | DDR2 | 0.39175209 |
| 128 | IKBKE | 0.38308010 |
| 129 | MAPK7 | 0.37728310 |
| 130 | PRPF4B | 0.35372692 |
| 131 | IGF1R | 0.35018161 |
| 132 | RET | 0.31163882 |
| 133 | PIK3CA | 0.30850147 |
| 134 | CDK12 | 0.30536313 |
| 135 | MAPKAPK2 | 0.30412202 |
| 136 | SGK494 | 0.29799785 |
| 137 | SGK223 | 0.29799785 |
| 138 | MARK2 | 0.29702271 |
| 139 | EGFR | 0.29630158 |
| 140 | TRIM28 | 0.29526748 |
| 141 | RPS6KL1 | 0.27032891 |
| 142 | RPS6KC1 | 0.27032891 |
| 143 | SMG1 | 0.26431676 |
| 144 | CDK9 | 0.25044255 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 4.19173161 |
| 2 | Nitrogen metabolism_Homo sapiens_hsa00910 | 3.46038625 |
| 3 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 3.39539930 |
| 4 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 3.30920643 |
| 5 | Arginine biosynthesis_Homo sapiens_hsa00220 | 2.89848257 |
| 6 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 2.83592240 |
| 7 | Tryptophan metabolism_Homo sapiens_hsa00380 | 2.80503464 |
| 8 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 2.73591535 |
| 9 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 2.55589733 |
| 10 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 2.51312029 |
| 11 | Fatty acid degradation_Homo sapiens_hsa00071 | 2.49980387 |
| 12 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 2.43571636 |
| 13 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 2.24883927 |
| 14 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.19404301 |
| 15 | Histidine metabolism_Homo sapiens_hsa00340 | 2.12463471 |
| 16 | Peroxisome_Homo sapiens_hsa04146 | 2.06943550 |
| 17 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.97842762 |
| 18 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.92364186 |
| 19 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.85945292 |
| 20 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 1.84347790 |
| 21 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.80278755 |
| 22 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 1.77962077 |
| 23 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 1.76477050 |
| 24 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 1.72457864 |
| 25 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 1.69698901 |
| 26 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 1.65218518 |
| 27 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 1.62998892 |
| 28 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 1.61122097 |
| 29 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 1.57345786 |
| 30 | Retinol metabolism_Homo sapiens_hsa00830 | 1.50733555 |
| 31 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.50334304 |
| 32 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.47230004 |
| 33 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.45053868 |
| 34 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.43824930 |
| 35 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.42929757 |
| 36 | Bile secretion_Homo sapiens_hsa04976 | 1.40500370 |
| 37 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 1.36409671 |
| 38 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 1.33478564 |
| 39 | Sulfur metabolism_Homo sapiens_hsa00920 | 1.33074418 |
| 40 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 1.32495997 |
| 41 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.30359089 |
| 42 | Tyrosine metabolism_Homo sapiens_hsa00350 | 1.27906759 |
| 43 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.27272298 |
| 44 | Carbon metabolism_Homo sapiens_hsa01200 | 1.25153870 |
| 45 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.24025411 |
| 46 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 1.22450551 |
| 47 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 1.21968572 |
| 48 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.21966392 |
| 49 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 1.17574615 |
| 50 | Folate biosynthesis_Homo sapiens_hsa00790 | 1.17485001 |
| 51 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.11121040 |
| 52 | Steroid biosynthesis_Homo sapiens_hsa00100 | 1.08361681 |
| 53 | Sulfur relay system_Homo sapiens_hsa04122 | 1.01216000 |
| 54 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.97295346 |
| 55 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.96402413 |
| 56 | Pertussis_Homo sapiens_hsa05133 | 0.96006206 |
| 57 | ABC transporters_Homo sapiens_hsa02010 | 0.95306508 |
| 58 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.91163113 |
| 59 | Proteasome_Homo sapiens_hsa03050 | 0.90822705 |
| 60 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.88989267 |
| 61 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.88787955 |
| 62 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.86561060 |
| 63 | Lysine degradation_Homo sapiens_hsa00310 | 0.80428458 |
| 64 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.76130465 |
| 65 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.75609816 |
| 66 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.71265382 |
| 67 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.65690776 |
| 68 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.65004743 |
| 69 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.62481401 |
| 70 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.59338782 |
| 71 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.56815771 |
| 72 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.55895922 |
| 73 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.54535594 |
| 74 | Metabolic pathways_Homo sapiens_hsa01100 | 0.50012390 |
| 75 | Prion diseases_Homo sapiens_hsa05020 | 0.48824006 |
| 76 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.48105722 |
| 77 | Legionellosis_Homo sapiens_hsa05134 | 0.46183848 |
| 78 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.42349485 |
| 79 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.41968223 |
| 80 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.36990716 |
| 81 | Galactose metabolism_Homo sapiens_hsa00052 | 0.36854235 |
| 82 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 0.35180402 |
| 83 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.31811480 |
| 84 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.31238566 |
| 85 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.30917629 |
| 86 | Circadian rhythm_Homo sapiens_hsa04710 | 0.28300101 |
| 87 | RNA polymerase_Homo sapiens_hsa03020 | 0.27514087 |
| 88 | Insulin resistance_Homo sapiens_hsa04931 | 0.27506971 |
| 89 | Base excision repair_Homo sapiens_hsa03410 | 0.27346807 |
| 90 | Mineral absorption_Homo sapiens_hsa04978 | 0.26057264 |
| 91 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.24836225 |
| 92 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.23560298 |
| 93 | Phagosome_Homo sapiens_hsa04145 | 0.21919774 |
| 94 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.21251479 |
| 95 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.20945714 |
| 96 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.18079161 |
| 97 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.12423618 |
| 98 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.10791094 |
| 99 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.09508565 |
| 100 | Lysosome_Homo sapiens_hsa04142 | 0.07601964 |
| 101 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.05931389 |
| 102 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.03473965 |
| 103 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.00730008 |
| 104 | Protein digestion and absorption_Homo sapiens_hsa04974 | -0.1566220 |
| 105 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | -0.1539501 |
| 106 | ECM-receptor interaction_Homo sapiens_hsa04512 | -0.1352879 |
| 107 | Amoebiasis_Homo sapiens_hsa05146 | -0.1180113 |
| 108 | Sphingolipid metabolism_Homo sapiens_hsa00600 | -0.1079685 |
| 109 | Ether lipid metabolism_Homo sapiens_hsa00565 | -0.0942692 |
| 110 | Other glycan degradation_Homo sapiens_hsa00511 | -0.0756954 |
| 111 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | -0.0703858 |
| 112 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | -0.0681250 |
| 113 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | -0.0531053 |
| 114 | Insulin signaling pathway_Homo sapiens_hsa04910 | -0.0433525 |
| 115 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | -0.0430853 |
| 116 | Bladder cancer_Homo sapiens_hsa05219 | -0.0406905 |
| 117 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | -0.0294040 |
| 118 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | -0.0003261 |

