

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | folic acid metabolic process (GO:0046655) | 4.53243026 |
| 2 | heme transport (GO:0015886) | 4.51078235 |
| 3 | glycine metabolic process (GO:0006544) | 4.51072932 |
| 4 | erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221) | 4.49524243 |
| 5 | L-phenylalanine metabolic process (GO:0006558) | 4.49524243 |
| 6 | erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222) | 4.35776545 |
| 7 | L-phenylalanine catabolic process (GO:0006559) | 4.35776545 |
| 8 | lysine metabolic process (GO:0006553) | 4.33273348 |
| 9 | lysine catabolic process (GO:0006554) | 4.33273348 |
| 10 | serine family amino acid biosynthetic process (GO:0009070) | 4.30533755 |
| 11 | NADH metabolic process (GO:0006734) | 4.26968828 |
| 12 | regulation of cholesterol esterification (GO:0010872) | 4.23485981 |
| 13 | L-serine metabolic process (GO:0006563) | 4.22693442 |
| 14 | chaperone-mediated protein transport (GO:0072321) | 4.13586032 |
| 15 | serine family amino acid catabolic process (GO:0009071) | 4.06576428 |
| 16 | DNA deamination (GO:0045006) | 3.94697801 |
| 17 | serine family amino acid metabolic process (GO:0009069) | 3.93637515 |
| 18 | aspartate family amino acid catabolic process (GO:0009068) | 3.92303048 |
| 19 | alpha-linolenic acid metabolic process (GO:0036109) | 3.89820958 |
| 20 | cysteine metabolic process (GO:0006534) | 3.89477791 |
| 21 | purine nucleobase biosynthetic process (GO:0009113) | 3.82989580 |
| 22 | sulfur amino acid catabolic process (GO:0000098) | 3.78927536 |
| 23 | glyoxylate metabolic process (GO:0046487) | 3.76660989 |
| 24 | triglyceride-rich lipoprotein particle remodeling (GO:0034370) | 3.75012569 |
| 25 | CDP-diacylglycerol metabolic process (GO:0046341) | 3.74854545 |
| 26 | amino-acid betaine metabolic process (GO:0006577) | 3.73203996 |
| 27 | L-methionine salvage (GO:0071267) | 3.69312190 |
| 28 | L-methionine biosynthetic process (GO:0071265) | 3.69312190 |
| 29 | amino acid salvage (GO:0043102) | 3.69312190 |
| 30 | establishment of protein localization to mitochondrial membrane (GO:0090151) | 3.69201534 |
| 31 | pantothenate metabolic process (GO:0015939) | 3.63356401 |
| 32 | iron coordination entity transport (GO:1901678) | 3.55544855 |
| 33 | sulfur amino acid biosynthetic process (GO:0000097) | 3.54318791 |
| 34 | 2-oxoglutarate metabolic process (GO:0006103) | 3.53579548 |
| 35 | biotin metabolic process (GO:0006768) | 3.53213037 |
| 36 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 3.52761913 |
| 37 | fructose metabolic process (GO:0006000) | 3.42851843 |
| 38 | aspartate family amino acid metabolic process (GO:0009066) | 3.41156213 |
| 39 | tricarboxylic acid cycle (GO:0006099) | 3.39295883 |
| 40 | aspartate family amino acid biosynthetic process (GO:0009067) | 3.34760293 |
| 41 | peptidyl-histidine modification (GO:0018202) | 3.29810878 |
| 42 | aromatic amino acid family catabolic process (GO:0009074) | 3.28973456 |
| 43 | regulation of cholesterol homeostasis (GO:2000188) | 3.28899844 |
| 44 | folic acid transport (GO:0015884) | 3.27105555 |
| 45 | acetyl-CoA metabolic process (GO:0006084) | 3.24896057 |
| 46 | fatty acid homeostasis (GO:0055089) | 3.23221783 |
| 47 | nucleobase biosynthetic process (GO:0046112) | 3.23104490 |
| 48 | alpha-amino acid catabolic process (GO:1901606) | 3.21083931 |
| 49 | positive regulation of triglyceride biosynthetic process (GO:0010867) | 3.18947029 |
| 50 | protein-lipid complex remodeling (GO:0034368) | 3.17738130 |
| 51 | macromolecular complex remodeling (GO:0034367) | 3.17738130 |
| 52 | plasma lipoprotein particle remodeling (GO:0034369) | 3.17738130 |
| 53 | branched-chain amino acid catabolic process (GO:0009083) | 3.15258071 |
| 54 | regulation of protein activation cascade (GO:2000257) | 3.13762827 |
| 55 | reverse cholesterol transport (GO:0043691) | 3.13341444 |
| 56 | methionine biosynthetic process (GO:0009086) | 3.13158688 |
| 57 | cellular amino acid catabolic process (GO:0009063) | 3.12880767 |
| 58 | L-alpha-amino acid transmembrane transport (GO:1902475) | 3.10897177 |
| 59 | kynurenine metabolic process (GO:0070189) | 3.10855465 |
| 60 | cellular modified amino acid catabolic process (GO:0042219) | 3.10730954 |
| 61 | methionine metabolic process (GO:0006555) | 3.07170767 |
| 62 | phospholipid efflux (GO:0033700) | 3.07161308 |
| 63 | proteasome assembly (GO:0043248) | 3.06910807 |
| 64 | homocysteine metabolic process (GO:0050667) | 3.06788285 |
| 65 | regulation of complement activation (GO:0030449) | 3.06579325 |
| 66 | fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540) | 3.05648113 |
| 67 | sulfur amino acid metabolic process (GO:0000096) | 3.02970861 |
| 68 | CDP-diacylglycerol biosynthetic process (GO:0016024) | 3.02013502 |
| 69 | plasma lipoprotein particle clearance (GO:0034381) | 2.99597876 |
| 70 | bile acid biosynthetic process (GO:0006699) | 2.97783611 |
| 71 | gluconeogenesis (GO:0006094) | 2.97535811 |
| 72 | aromatic amino acid family metabolic process (GO:0009072) | 2.93976792 |
| 73 | pyrimidine deoxyribonucleotide catabolic process (GO:0009223) | 2.93006574 |
| 74 | galactose catabolic process (GO:0019388) | 2.92868511 |
| 75 | mitochondrial electron transport, NADH to ubiquinone (GO:0006120) | 2.89760302 |
| 76 | urea cycle (GO:0000050) | 2.89039012 |
| 77 | urea metabolic process (GO:0019627) | 2.89039012 |
| 78 | low-density lipoprotein particle remodeling (GO:0034374) | 2.88593849 |
| 79 | respiratory electron transport chain (GO:0022904) | 2.87547108 |
| 80 | complement activation, alternative pathway (GO:0006957) | 2.87345447 |
| 81 | electron transport chain (GO:0022900) | 2.86602458 |
| 82 | protein insertion into membrane (GO:0051205) | 2.86452031 |
| 83 | organic acid catabolic process (GO:0016054) | 2.83796134 |
| 84 | carboxylic acid catabolic process (GO:0046395) | 2.83796134 |
| 85 | water-soluble vitamin biosynthetic process (GO:0042364) | 2.83674351 |
| 86 | response to mercury ion (GO:0046689) | 2.83541729 |
| 87 | GDP-mannose metabolic process (GO:0019673) | 2.83205529 |
| 88 | cofactor transport (GO:0051181) | 2.83155618 |
| 89 | S-adenosylmethionine metabolic process (GO:0046500) | 2.82920899 |
| 90 | energy coupled proton transport, down electrochemical gradient (GO:0015985) | 2.82435348 |
| 91 | ATP synthesis coupled proton transport (GO:0015986) | 2.82435348 |
| 92 | regulation of cholesterol biosynthetic process (GO:0045540) | 2.82329624 |
| 93 | cellular amino acid biosynthetic process (GO:0008652) | 2.82144843 |
| 94 | ethanol oxidation (GO:0006069) | 2.81962050 |
| 95 | proline biosynthetic process (GO:0006561) | 2.81641229 |
| 96 | alpha-amino acid biosynthetic process (GO:1901607) | 2.80315423 |
| 97 | mannose metabolic process (GO:0006013) | 2.79736861 |
| 98 | acyl-CoA biosynthetic process (GO:0071616) | 2.78811721 |
| 99 | thioester biosynthetic process (GO:0035384) | 2.78811721 |
| 100 | monosaccharide biosynthetic process (GO:0046364) | 2.78312211 |
| 101 | carnitine metabolic process (GO:0009437) | 2.78266333 |
| 102 | fatty acid catabolic process (GO:0009062) | 2.77797658 |
| 103 | regulation of mitochondrial translation (GO:0070129) | 2.77233021 |
| 104 | fatty acid beta-oxidation (GO:0006635) | 2.77102296 |
| 105 | cholesterol efflux (GO:0033344) | 2.77044816 |
| 106 | positive regulation of triglyceride metabolic process (GO:0090208) | 2.77020556 |
| 107 | valine metabolic process (GO:0006573) | 2.76862154 |
| 108 | negative regulation of sterol transport (GO:0032372) | 2.76581723 |
| 109 | negative regulation of cholesterol transport (GO:0032375) | 2.76581723 |
| 110 | 4-hydroxyproline metabolic process (GO:0019471) | 2.76480047 |
| 111 | positive regulation of triglyceride lipase activity (GO:0061365) | 2.76241009 |
| 112 | positive regulation of lipoprotein lipase activity (GO:0051006) | 2.76241009 |
| 113 | branched-chain amino acid metabolic process (GO:0009081) | 2.71817503 |
| 114 | high-density lipoprotein particle remodeling (GO:0034375) | 2.71563941 |
| 115 | nitrogen cycle metabolic process (GO:0071941) | 2.67518870 |
| 116 | negative regulation of fibrinolysis (GO:0051918) | 2.65100009 |
| 117 | ribosome assembly (GO:0042255) | 2.64862487 |
| 118 | protein carboxylation (GO:0018214) | 2.64366261 |
| 119 | peptidyl-glutamic acid carboxylation (GO:0017187) | 2.64366261 |
| 120 | glutamate metabolic process (GO:0006536) | 2.64006044 |
| 121 | protein targeting to mitochondrion (GO:0006626) | 2.63785350 |
| 122 | hexose biosynthetic process (GO:0019319) | 2.63061419 |
| 123 | proline metabolic process (GO:0006560) | 2.63027012 |
| 124 | C4-dicarboxylate transport (GO:0015740) | 2.62989960 |
| 125 | cellular metabolic compound salvage (GO:0043094) | 2.62922702 |
| 126 | base-excision repair, AP site formation (GO:0006285) | 2.62843534 |
| 127 | regulation of branching involved in prostate gland morphogenesis (GO:0060687) | 2.62596719 |
| 128 | bile acid metabolic process (GO:0008206) | 2.62036972 |
| 129 | regulation of cholesterol metabolic process (GO:0090181) | 2.61559074 |
| 130 | short-chain fatty acid metabolic process (GO:0046459) | 2.61506785 |
| 131 | cofactor catabolic process (GO:0051187) | 2.58971487 |
| 132 | vitamin biosynthetic process (GO:0009110) | 2.57233691 |
| 133 | oligosaccharide catabolic process (GO:0009313) | 2.53547491 |
| 134 | rRNA modification (GO:0000154) | 2.53061340 |
| 135 | plasma lipoprotein particle assembly (GO:0034377) | 2.52802316 |
| 136 | protein complex biogenesis (GO:0070271) | 2.50679782 |
| 137 | very-low-density lipoprotein particle assembly (GO:0034379) | 2.49877258 |
| 138 | establishment of protein localization to mitochondrion (GO:0072655) | 2.49042471 |
| 139 | deoxyribonucleoside monophosphate metabolic process (GO:0009162) | 2.47049843 |
| 140 | mitochondrial respiratory chain complex assembly (GO:0033108) | 2.46731493 |
| 141 | plasma lipoprotein particle organization (GO:0071827) | 2.43479283 |
| 142 | aldehyde catabolic process (GO:0046185) | 2.39890815 |
| 143 | L-ascorbic acid metabolic process (GO:0019852) | 2.37093865 |
| 144 | protein-lipid complex assembly (GO:0065005) | 2.36356893 |
| 145 | GTP biosynthetic process (GO:0006183) | 2.35610636 |
| 146 | protein-lipid complex subunit organization (GO:0071825) | 2.35074084 |
| 147 | energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988) | 2.30829665 |
| 148 | ATP hydrolysis coupled proton transport (GO:0015991) | 2.30829665 |
| 149 | fat-soluble vitamin biosynthetic process (GO:0042362) | 2.30793030 |
| 150 | acylglycerol homeostasis (GO:0055090) | 2.30001527 |
| 151 | triglyceride homeostasis (GO:0070328) | 2.30001527 |
| 152 | protein localization to mitochondrion (GO:0070585) | 2.29732111 |
| 153 | oxidative phosphorylation (GO:0006119) | 2.27968880 |
| 154 | regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081) | 2.24972481 |
| 155 | pyrimidine deoxyribonucleotide metabolic process (GO:0009219) | 2.24584949 |
| 156 | rRNA methylation (GO:0031167) | 2.23932606 |
| 157 | pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148) | 2.22527785 |
| 158 | UTP biosynthetic process (GO:0006228) | 2.22337454 |
| 159 | pentose metabolic process (GO:0019321) | 2.22028957 |
| 160 | inner mitochondrial membrane organization (GO:0007007) | 2.21232877 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 5.23052569 |
| 2 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 4.09387935 |
| 3 | RXR_22158963_ChIP-Seq_LIVER_Mouse | 3.44427746 |
| 4 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 3.32302042 |
| 5 | PPARA_22158963_ChIP-Seq_LIVER_Mouse | 3.18124150 |
| 6 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 2.92668558 |
| 7 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 2.78516386 |
| 8 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 2.65118456 |
| 9 | ZNF263_19887448_ChIP-Seq_K562_Human | 2.58302218 |
| 10 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 2.47774145 |
| 11 | CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 2.40542706 |
| 12 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 2.34950343 |
| 13 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 2.32482651 |
| 14 | FOXO1_23066095_ChIP-Seq_LIVER_Mouse | 2.32235216 |
| 15 | LXR_22158963_ChIP-Seq_LIVER_Mouse | 2.24663270 |
| 16 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 2.14197212 |
| 17 | * ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 2.09316299 |
| 18 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 2.07032975 |
| 19 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 1.85416548 |
| 20 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 1.81318574 |
| 21 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 1.80600745 |
| 22 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 1.78208128 |
| 23 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.77448760 |
| 24 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 1.74612324 |
| 25 | NR0B1_18358816_ChIP-ChIP_MESCs_Mouse | 1.74093544 |
| 26 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.73987684 |
| 27 | SRY_22984422_ChIP-ChIP_TESTIS_Rat | 1.72214669 |
| 28 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 1.71826002 |
| 29 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 1.71816809 |
| 30 | SIN3A_21632747_ChIP-Seq_MESCs_Mouse | 1.67292166 |
| 31 | EGR1_23403033_ChIP-Seq_LIVER_Mouse | 1.61524265 |
| 32 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.61104926 |
| 33 | E2F1_18555785_ChIP-Seq_MESCs_Mouse | 1.59730284 |
| 34 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 1.59726042 |
| 35 | NANOG_18555785_ChIP-Seq_MESCs_Mouse | 1.59683300 |
| 36 | GABP_19822575_ChIP-Seq_HepG2_Human | 1.59519544 |
| 37 | CEBPB_24764292_ChIP-Seq_MC3T3_Mouse | 1.58784167 |
| 38 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 1.57414634 |
| 39 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 1.54596369 |
| 40 | * TET1_21451524_ChIP-Seq_MESCs_Mouse | 1.54480983 |
| 41 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 1.50653562 |
| 42 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 1.50304215 |
| 43 | ERG_21242973_ChIP-ChIP_JURKAT_Human | 1.49849037 |
| 44 | ESR1_15608294_ChIP-ChIP_MCF-7_Human | 1.48815096 |
| 45 | SREBP1_19666523_ChIP-Seq_LIVER_Mouse | 1.48466496 |
| 46 | XRN2_22483619_ChIP-Seq_HELA_Human | 1.42566723 |
| 47 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 1.42447417 |
| 48 | * LXR_22292898_ChIP-Seq_THP-1_Human | 1.42308585 |
| 49 | SRF_21415370_ChIP-Seq_HL-1_Mouse | 1.39969159 |
| 50 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.39636597 |
| 51 | HNF4A_19761587_ChIP-ChIP_CACO-2_Human | 1.37554074 |
| 52 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 1.37347903 |
| 53 | KLF4_18358816_ChIP-ChIP_MESCs_Mouse | 1.35726753 |
| 54 | * P68_20966046_ChIP-Seq_HELA_Human | 1.34697774 |
| 55 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 1.31593543 |
| 56 | ZFP281_18358816_ChIP-ChIP_MESCs_Mouse | 1.26540834 |
| 57 | SMAD1_18555785_ChIP-Seq_MESCs_Mouse | 1.26418154 |
| 58 | FOXP1_21924763_ChIP-Seq_HESCs_Human | 1.25571474 |
| 59 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.24919699 |
| 60 | * SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.24489757 |
| 61 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 1.23807191 |
| 62 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.23723393 |
| 63 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.22576283 |
| 64 | SREBP2_21459322_ChIP-Seq_LIVER_Mouse | 1.21664640 |
| 65 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.20566308 |
| 66 | ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.19492848 |
| 67 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.18668061 |
| 68 | NR1I2_20693526_ChIP-Seq_LIVER_Mouse | 1.18593334 |
| 69 | KLF4_18555785_ChIP-Seq_MESCs_Mouse | 1.17984028 |
| 70 | CTCF_18555785_ChIP-Seq_MESCs_Mouse | 1.17711400 |
| 71 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.16576131 |
| 72 | * NELFA_20434984_ChIP-Seq_ESCs_Mouse | 1.16071022 |
| 73 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.15538298 |
| 74 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 1.15252835 |
| 75 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.14285215 |
| 76 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.13279355 |
| 77 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 1.12436674 |
| 78 | DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 1.09147540 |
| 79 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.08754259 |
| 80 | BCL3_23251550_ChIP-Seq_MUSCLE_Mouse | 1.08475535 |
| 81 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 1.08364419 |
| 82 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.08203947 |
| 83 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.07786303 |
| 84 | RARA_24833708_ChIP-Seq_LIVER_Mouse | 1.07028926 |
| 85 | SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 1.06440639 |
| 86 | VDR_23849224_ChIP-Seq_CD4+_Human | 1.06093798 |
| 87 | SETDB1_19884255_ChIP-Seq_MESCs_Mouse | 1.05336655 |
| 88 | TBX5_21415370_ChIP-Seq_HL-1_Mouse | 1.05299257 |
| 89 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.05223705 |
| 90 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.04839207 |
| 91 | * E2F1_20622854_ChIP-Seq_HELA_Human | 1.04440555 |
| 92 | NACC1_18358816_ChIP-ChIP_MESCs_Mouse | 1.04251282 |
| 93 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.04226647 |
| 94 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.04045779 |
| 95 | OCT4_18692474_ChIP-Seq_MEFs_Mouse | 1.03838776 |
| 96 | SA1_27219007_Chip-Seq_Bcells_Human | 1.03255588 |
| 97 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 1.03142091 |
| 98 | TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse | 1.02480691 |
| 99 | CIITA_25753668_ChIP-Seq_RAJI_Human | 1.02360006 |
| 100 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 1.02000666 |
| 101 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.01787449 |
| 102 | RXRA_24833708_ChIP-Seq_LIVER_Mouse | 1.00836784 |
| 103 | CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat | 1.00591125 |
| 104 | CTCF_26484167_Chip-Seq_Bcells_Mouse | 1.00068446 |
| 105 | RARB_24833708_ChIP-Seq_LIVER_Mouse | 0.98994343 |
| 106 | NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human | 0.97656300 |
| 107 | TCF7L2_21901280_ChIP-Seq_H4IIE_Rat | 0.97294653 |
| 108 | RACK7_27058665_Chip-Seq_MCF-7_Human | 0.96539921 |
| 109 | * SMC4_20622854_ChIP-Seq_HELA_Human | 0.96464267 |
| 110 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 0.96434755 |
| 111 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 0.95965970 |
| 112 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 0.95940733 |
| 113 | TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 0.95061428 |
| 114 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 0.94891050 |
| 115 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 0.94311808 |
| 116 | * SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 0.93061773 |
| 117 | TRIM28_19339689_ChIP-ChIP_MESCs_Mouse | 0.92760479 |
| 118 | KDM5A_27292631_Chip-Seq_BREAST_Human | 0.91723849 |
| 119 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 0.91010559 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0009840_abnormal_foam_cell | 5.96488965 |
| 2 | MP0002139_abnormal_hepatobiliary_system | 4.68860108 |
| 3 | MP0003806_abnormal_nucleotide_metabolis | 4.43919296 |
| 4 | MP0005360_urolithiasis | 3.89585465 |
| 5 | MP0005365_abnormal_bile_salt | 3.69762274 |
| 6 | MP0005085_abnormal_gallbladder_physiolo | 3.21658366 |
| 7 | MP0005670_abnormal_white_adipose | 3.09362341 |
| 8 | MP0003329_amyloid_beta_deposits | 3.07840437 |
| 9 | MP0005332_abnormal_amino_acid | 2.78790657 |
| 10 | MP0003878_abnormal_ear_physiology | 2.62367183 |
| 11 | MP0005377_hearing/vestibular/ear_phenot | 2.62367183 |
| 12 | MP0010329_abnormal_lipoprotein_level | 2.52375402 |
| 13 | MP0003879_abnormal_hair_cell | 2.47778251 |
| 14 | MP0003656_abnormal_erythrocyte_physiolo | 2.44887375 |
| 15 | MP0005058_abnormal_lysosome_morphology | 2.39197657 |
| 16 | MP0008260_abnormal_autophagy | 2.36661388 |
| 17 | MP0005083_abnormal_biliary_tract | 2.34218459 |
| 18 | MP0008875_abnormal_xenobiotic_pharmacok | 2.33466491 |
| 19 | MP0003123_paternal_imprinting | 2.31608622 |
| 20 | MP0000566_synostosis | 2.20379162 |
| 21 | MP0003646_muscle_fatigue | 2.08258668 |
| 22 | MP0003195_calcinosis | 2.07994429 |
| 23 | MP0006036_abnormal_mitochondrial_physio | 2.07888843 |
| 24 | MP0000604_amyloidosis | 2.02460315 |
| 25 | MP0003191_abnormal_cellular_cholesterol | 2.00193475 |
| 26 | MP0002837_dystrophic_cardiac_calcinosis | 1.89372315 |
| 27 | MP0002269_muscular_atrophy | 1.85544431 |
| 28 | MP0005410_abnormal_fertilization | 1.82086008 |
| 29 | MP0003122_maternal_imprinting | 1.80396512 |
| 30 | MP0006292_abnormal_olfactory_placode | 1.79201366 |
| 31 | MP0003011_delayed_dark_adaptation | 1.76973411 |
| 32 | MP0002118_abnormal_lipid_homeostasis | 1.74219172 |
| 33 | MP0005319_abnormal_enzyme/_coenzyme | 1.73893034 |
| 34 | MP0002254_reproductive_system_inflammat | 1.70363700 |
| 35 | MP0006035_abnormal_mitochondrial_morpho | 1.68128325 |
| 36 | MP0003693_abnormal_embryo_hatching | 1.64292563 |
| 37 | MP0004084_abnormal_cardiac_muscle | 1.63908111 |
| 38 | MP0004019_abnormal_vitamin_homeostasis | 1.62917542 |
| 39 | MP0000747_muscle_weakness | 1.59959638 |
| 40 | MP0001661_extended_life_span | 1.57579367 |
| 41 | MP0000609_abnormal_liver_physiology | 1.55621662 |
| 42 | MP0003941_abnormal_skin_development | 1.51409990 |
| 43 | MP0002653_abnormal_ependyma_morphology | 1.50827436 |
| 44 | MP0009697_abnormal_copulation | 1.48231062 |
| 45 | MP0001666_abnormal_nutrient_absorption | 1.44603730 |
| 46 | MP0003136_yellow_coat_color | 1.43465840 |
| 47 | MP0005646_abnormal_pituitary_gland | 1.43048373 |
| 48 | MP0003718_maternal_effect | 1.41768693 |
| 49 | MP0003111_abnormal_nucleus_morphology | 1.40491447 |
| 50 | MP0003186_abnormal_redox_activity | 1.39702202 |
| 51 | MP0004215_abnormal_myocardial_fiber | 1.37139968 |
| 52 | MP0004147_increased_porphyrin_level | 1.34236217 |
| 53 | MP0001764_abnormal_homeostasis | 1.33611640 |
| 54 | MP0001529_abnormal_vocalization | 1.30326570 |
| 55 | MP0002249_abnormal_larynx_morphology | 1.30042812 |
| 56 | MP0005584_abnormal_enzyme/coenzyme_acti | 1.28325891 |
| 57 | MP0009643_abnormal_urine_homeostasis | 1.27619049 |
| 58 | MP0005451_abnormal_body_composition | 1.27228342 |
| 59 | MP0005330_cardiomyopathy | 1.27058777 |
| 60 | MP0005666_abnormal_adipose_tissue | 1.23244707 |
| 61 | MP0000358_abnormal_cell_content/ | 1.21510505 |
| 62 | MP0004233_abnormal_muscle_weight | 1.20962237 |
| 63 | MP0003172_abnormal_lysosome_physiology | 1.20428550 |
| 64 | MP0001293_anophthalmia | 1.18295407 |
| 65 | MP0004036_abnormal_muscle_relaxation | 1.17947352 |
| 66 | MP0002234_abnormal_pharynx_morphology | 1.14559932 |
| 67 | MP0003252_abnormal_bile_duct | 1.12305276 |
| 68 | MP0004130_abnormal_muscle_cell | 1.11354563 |
| 69 | MP0001756_abnormal_urination | 1.08685701 |
| 70 | MP0002909_abnormal_adrenal_gland | 1.05856191 |
| 71 | MP0003890_abnormal_embryonic-extraembry | 1.04719265 |
| 72 | MP0003868_abnormal_feces_composition | 1.04477423 |
| 73 | MP0002697_abnormal_eye_size | 1.02838676 |
| 74 | MP0000749_muscle_degeneration | 1.01943544 |
| 75 | MP0004043_abnormal_pH_regulation | 0.99256914 |
| 76 | MP0000049_abnormal_middle_ear | 0.98252466 |
| 77 | MP0001324_abnormal_eye_pigmentation | 0.96388340 |
| 78 | MP0000751_myopathy | 0.96076643 |
| 79 | MP0003221_abnormal_cardiomyocyte_apopto | 0.94865442 |
| 80 | MP0000750_abnormal_muscle_regeneration | 0.94214569 |
| 81 | MP0000598_abnormal_liver_morphology | 0.94131635 |
| 82 | MP0005408_hypopigmentation | 0.94025950 |
| 83 | MP0005266_abnormal_metabolism | 0.91259246 |
| 84 | MP0002089_abnormal_postnatal_growth/wei | 0.90313171 |
| 85 | MP0008932_abnormal_embryonic_tissue | 0.89745897 |
| 86 | MP0005375_adipose_tissue_phenotype | 0.89159519 |
| 87 | MP0000013_abnormal_adipose_tissue | 0.88834925 |
| 88 | MP0005636_abnormal_mineral_homeostasis | 0.87927044 |
| 89 | MP0004957_abnormal_blastocyst_morpholog | 0.87216823 |
| 90 | MP0009379_abnormal_foot_pigmentation | 0.85814875 |
| 91 | MP0001984_abnormal_olfaction | 0.84978343 |
| 92 | MP0002822_catalepsy | 0.84920896 |
| 93 | MP0009672_abnormal_birth_weight | 0.84694914 |
| 94 | MP0002098_abnormal_vibrissa_morphology | 0.83625533 |
| 95 | MP0002736_abnormal_nociception_after | 0.83094813 |
| 96 | MP0002938_white_spotting | 0.83074530 |
| 97 | MP0002078_abnormal_glucose_homeostasis | 0.82682453 |
| 98 | MP0004133_heterotaxia | 0.82419062 |
| 99 | MP0000678_abnormal_parathyroid_gland | 0.82389243 |
| 100 | MP0004270_analgesia | 0.81204238 |
| 101 | MP0003690_abnormal_glial_cell | 0.81055262 |
| 102 | MP0004145_abnormal_muscle_electrophysio | 0.78457544 |
| 103 | MP0000026_abnormal_inner_ear | 0.75686926 |
| 104 | MP0009046_muscle_twitch | 0.75392488 |
| 105 | MP0008775_abnormal_heart_ventricle | 0.75315045 |
| 106 | MP0001542_abnormal_bone_strength | 0.75156435 |
| 107 | MP0003283_abnormal_digestive_organ | 0.74833650 |
| 108 | MP0004742_abnormal_vestibular_system | 0.73330642 |
| 109 | * MP0003698_abnormal_male_reproductive | 0.72940491 |
| 110 | MP0003705_abnormal_hypodermis_morpholog | 0.72485014 |
| 111 | MP0002092_abnormal_eye_morphology | 0.72023752 |
| 112 | MP0005394_taste/olfaction_phenotype | 0.71448429 |
| 113 | MP0005499_abnormal_olfactory_system | 0.71448429 |
| 114 | MP0006276_abnormal_autonomic_nervous | 0.68804174 |
| 115 | MP0002971_abnormal_brown_adipose | 0.68386776 |
| 116 | MP0003119_abnormal_digestive_system | 0.68086208 |
| 117 | MP0000003_abnormal_adipose_tissue | 0.67879968 |
| 118 | MP0002796_impaired_skin_barrier | 0.67777451 |
| 119 | MP0003880_abnormal_central_pattern | 0.67142678 |
| 120 | * MP0003137_abnormal_impulse_conducting | 0.67011089 |
| 121 | MP0002970_abnormal_white_adipose | 0.66595132 |
| 122 | MP0004858_abnormal_nervous_system | 0.66404597 |
| 123 | MP0004142_abnormal_muscle_tone | 0.66278164 |
| 124 | MP0004185_abnormal_adipocyte_glucose | 0.65525810 |
| 125 | MP0005376_homeostasis/metabolism_phenot | 0.64105941 |
| 126 | MP0005395_other_phenotype | 0.64072999 |
| 127 | MP0002064_seizures | 0.64008530 |
| 128 | MP0008789_abnormal_olfactory_epithelium | 0.63911536 |
| 129 | MP0001730_embryonic_growth_arrest | 0.63602771 |
| 130 | MP0008058_abnormal_DNA_repair | 0.63478479 |
| 131 | MP0009642_abnormal_blood_homeostasis | 0.63275579 |
| 132 | MP0002229_neurodegeneration | 0.63149553 |
| 133 | MP0004087_abnormal_muscle_fiber | 0.62830938 |
| 134 | MP0003632_abnormal_nervous_system | 0.61662416 |
| 135 | MP0003634_abnormal_glial_cell | 0.61458583 |
| 136 | MP0004264_abnormal_extraembryonic_tissu | 0.61335299 |
| 137 | MP0002876_abnormal_thyroid_physiology | 0.61097270 |
| 138 | MP0001486_abnormal_startle_reflex | 0.60885163 |
| 139 | MP0001905_abnormal_dopamine_level | 0.60757934 |
| 140 | MP0001485_abnormal_pinna_reflex | 0.59729830 |
| 141 | MP0005535_abnormal_body_temperature | 0.59665016 |
| 142 | MP0000372_irregular_coat_pigmentation | 0.59414445 |
| 143 | MP0005220_abnormal_exocrine_pancreas | 0.58813101 |
| 144 | MP0010094_abnormal_chromosome_stability | 0.58552596 |
| 145 | MP0001929_abnormal_gametogenesis | 0.58487651 |
| 146 | MP0002090_abnormal_vision | 0.58085090 |
| 147 | MP0005334_abnormal_fat_pad | 0.56860184 |
| 148 | MP0002332_abnormal_exercise_endurance | 0.55744637 |
| 149 | MP0004885_abnormal_endolymph | 0.55450236 |
| 150 | MP0002161_abnormal_fertility/fecundity | 0.54450000 |
| 151 | MP0008872_abnormal_physiological_respon | 0.51824194 |
| 152 | MP0003953_abnormal_hormone_level | 0.50820055 |
| 153 | MP0010030_abnormal_orbit_morphology | 0.49928192 |
| 154 | MP0001544_abnormal_cardiovascular_syste | 0.48531327 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Hyperglycinuria (HP:0003108) | 4.77994775 |
| 2 | Hyperglycinemia (HP:0002154) | 4.62176765 |
| 3 | Abnormality of aromatic amino acid family metabolism (HP:0004338) | 4.48224059 |
| 4 | Abnormality of glycine metabolism (HP:0010895) | 4.46918379 |
| 5 | Abnormality of serine family amino acid metabolism (HP:0010894) | 4.46918379 |
| 6 | Xanthomatosis (HP:0000991) | 4.32390126 |
| 7 | Hyperlipoproteinemia (HP:0010980) | 4.20493912 |
| 8 | Ketosis (HP:0001946) | 3.78754890 |
| 9 | Hyperammonemia (HP:0001987) | 3.76154613 |
| 10 | Gout (HP:0001997) | 3.61262612 |
| 11 | Abnormal mitochondria in muscle tissue (HP:0008316) | 3.28484963 |
| 12 | Hypoglycemic coma (HP:0001325) | 3.27867629 |
| 13 | Abnormality of dicarboxylic acid metabolism (HP:0010995) | 3.26485020 |
| 14 | Dicarboxylic aciduria (HP:0003215) | 3.26485020 |
| 15 | Abnormality of serum amino acid levels (HP:0003112) | 3.24635585 |
| 16 | Global brain atrophy (HP:0002283) | 3.24403947 |
| 17 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 3.21592597 |
| 18 | Hypoalphalipoproteinemia (HP:0003233) | 3.19250683 |
| 19 | Intrahepatic cholestasis (HP:0001406) | 3.16650101 |
| 20 | Increased muscle lipid content (HP:0009058) | 3.15294502 |
| 21 | Acute encephalopathy (HP:0006846) | 3.14271726 |
| 22 | Lipid accumulation in hepatocytes (HP:0006561) | 3.13218472 |
| 23 | Acute necrotizing encephalopathy (HP:0006965) | 3.13152114 |
| 24 | Abnormality of monocarboxylic acid metabolism (HP:0010996) | 3.12347509 |
| 25 | Cerebral hypomyelination (HP:0006808) | 3.12221471 |
| 26 | Complement deficiency (HP:0004431) | 3.07104704 |
| 27 | Ketoacidosis (HP:0001993) | 3.04984191 |
| 28 | Retinal atrophy (HP:0001105) | 3.04504011 |
| 29 | Abnormality of fatty-acid metabolism (HP:0004359) | 3.01555849 |
| 30 | Mutism (HP:0002300) | 2.96539115 |
| 31 | Reduced antithrombin III activity (HP:0001976) | 2.93683078 |
| 32 | Generalized aminoaciduria (HP:0002909) | 2.93408715 |
| 33 | Deep venous thrombosis (HP:0002625) | 2.90438848 |
| 34 | Mitochondrial inheritance (HP:0001427) | 2.89541998 |
| 35 | Increased intramyocellular lipid droplets (HP:0012240) | 2.85198806 |
| 36 | Abnormality of alanine metabolism (HP:0010916) | 2.83286406 |
| 37 | Hyperalaninemia (HP:0003348) | 2.83286406 |
| 38 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 2.83286406 |
| 39 | Hypolipoproteinemia (HP:0010981) | 2.75889665 |
| 40 | Lethargy (HP:0001254) | 2.70888876 |
| 41 | Increased CSF lactate (HP:0002490) | 2.70654293 |
| 42 | Renal Fanconi syndrome (HP:0001994) | 2.70570909 |
| 43 | Delusions (HP:0000746) | 2.70131607 |
| 44 | Abnormality of long-chain fatty-acid metabolism (HP:0010964) | 2.68872901 |
| 45 | Increased cerebral lipofuscin (HP:0011813) | 2.67214551 |
| 46 | Progressive muscle weakness (HP:0003323) | 2.65189208 |
| 47 | Neurofibrillary tangles (HP:0002185) | 2.61925837 |
| 48 | CNS demyelination (HP:0007305) | 2.61801311 |
| 49 | Glycosuria (HP:0003076) | 2.59961661 |
| 50 | Abnormality of urine glucose concentration (HP:0011016) | 2.59961661 |
| 51 | Increased hepatocellular lipid droplets (HP:0006565) | 2.57625251 |
| 52 | Irritability (HP:0000737) | 2.56749312 |
| 53 | Abnormality of sulfur amino acid metabolism (HP:0004339) | 2.55162080 |
| 54 | Hypobetalipoproteinemia (HP:0003563) | 2.52632880 |
| 55 | Vacuolated lymphocytes (HP:0001922) | 2.51913013 |
| 56 | Loss of speech (HP:0002371) | 2.42839001 |
| 57 | Increased neuronal autofluorescent lipopigment (HP:0002074) | 2.42764252 |
| 58 | Abnormality of liposaccharide metabolism (HP:0010968) | 2.41987461 |
| 59 | Abnormality of glycosphingolipid metabolism (HP:0004343) | 2.41987461 |
| 60 | Abnormality of glycolipid metabolism (HP:0010969) | 2.41987461 |
| 61 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 2.41943556 |
| 62 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 2.41943556 |
| 63 | Myoglobinuria (HP:0002913) | 2.41458030 |
| 64 | Respiratory failure (HP:0002878) | 2.40177043 |
| 65 | Hepatic necrosis (HP:0002605) | 2.40100383 |
| 66 | Abnormality of methionine metabolism (HP:0010901) | 2.39607115 |
| 67 | Abnormality of complement system (HP:0005339) | 2.38724244 |
| 68 | Abnormality of the level of lipoprotein cholesterol (HP:0010979) | 2.37462732 |
| 69 | Rhabdomyolysis (HP:0003201) | 2.37386919 |
| 70 | Broad distal phalanx of finger (HP:0009836) | 2.33905620 |
| 71 | Methylmalonic aciduria (HP:0012120) | 2.33523144 |
| 72 | Prolonged partial thromboplastin time (HP:0003645) | 2.32143893 |
| 73 | Athetosis (HP:0002305) | 2.28100639 |
| 74 | Cerebral inclusion bodies (HP:0100314) | 2.25962090 |
| 75 | Delayed CNS myelination (HP:0002188) | 2.24545632 |
| 76 | Type I transferrin isoform profile (HP:0003642) | 2.24496295 |
| 77 | Megaloblastic anemia (HP:0001889) | 2.22708145 |
| 78 | Brushfield spots (HP:0001088) | 2.22085235 |
| 79 | Ventricular fibrillation (HP:0001663) | 2.21966222 |
| 80 | Ragged-red muscle fibers (HP:0003200) | 2.20468521 |
| 81 | Progressive macrocephaly (HP:0004481) | 2.20384950 |
| 82 | Emotional lability (HP:0000712) | 2.19290361 |
| 83 | Atrioventricular block (HP:0001678) | 2.18730511 |
| 84 | Nuclear cataract (HP:0100018) | 2.15314187 |
| 85 | Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688) | 2.15040698 |
| 86 | Personality changes (HP:0000751) | 2.14795855 |
| 87 | Abnormality of the heme biosynthetic pathway (HP:0010472) | 2.14654153 |
| 88 | Microretrognathia (HP:0000308) | 2.14134276 |
| 89 | Myokymia (HP:0002411) | 2.12931141 |
| 90 | Lactic acidosis (HP:0003128) | 2.12448345 |
| 91 | Abnormality of aspartate family amino acid metabolism (HP:0010899) | 2.11646783 |
| 92 | Multiple enchondromatosis (HP:0005701) | 2.11256942 |
| 93 | Hypokinesia (HP:0002375) | 2.10912095 |
| 94 | Polyphagia (HP:0002591) | 2.09912065 |
| 95 | Late onset (HP:0003584) | 2.09318742 |
| 96 | Cerebral edema (HP:0002181) | 2.07891792 |
| 97 | Abnormality of glycolysis (HP:0004366) | 2.07047274 |
| 98 | Proximal tubulopathy (HP:0000114) | 2.05917735 |
| 99 | Testicular atrophy (HP:0000029) | 2.05328604 |
| 100 | Opisthotonus (HP:0002179) | 2.03914248 |
| 101 | Death in infancy (HP:0001522) | 2.02355416 |
| 102 | Tetraplegia (HP:0002445) | 2.01176254 |
| 103 | Hyperbilirubinemia (HP:0002904) | 1.99054353 |
| 104 | Vomiting (HP:0002013) | 1.98878979 |
| 105 | Diaphragmatic weakness (HP:0009113) | 1.98851846 |
| 106 | Abnormality of pyrimidine metabolism (HP:0004353) | 1.98711081 |
| 107 | Bundle branch block (HP:0011710) | 1.97039493 |
| 108 | Metabolic acidosis (HP:0001942) | 1.96918021 |
| 109 | Hyperphosphaturia (HP:0003109) | 1.96119903 |
| 110 | Reticulocytosis (HP:0001923) | 1.95562737 |
| 111 | Unsteady gait (HP:0002317) | 1.93607808 |
| 112 | Exercise intolerance (HP:0003546) | 1.92955778 |
| 113 | Prolonged neonatal jaundice (HP:0006579) | 1.92188315 |
| 114 | Abnormal gallbladder morphology (HP:0012437) | 1.92012167 |
| 115 | Abnormality of nucleobase metabolism (HP:0010932) | 1.92011462 |
| 116 | Hypercholesterolemia (HP:0003124) | 1.91447774 |
| 117 | Spastic paraparesis (HP:0002313) | 1.91381378 |
| 118 | Cholelithiasis (HP:0001081) | 1.91352735 |
| 119 | Abnormality of glutamine family amino acid metabolism (HP:0010902) | 1.90364771 |
| 120 | Vaginal fistula (HP:0004320) | 1.89951309 |
| 121 | Hepatocellular necrosis (HP:0001404) | 1.89537877 |
| 122 | Abnormal gallbladder physiology (HP:0012438) | 1.89383288 |
| 123 | Cholecystitis (HP:0001082) | 1.89383288 |
| 124 | Spastic tetraparesis (HP:0001285) | 1.89346216 |
| 125 | Abnormality of purine metabolism (HP:0004352) | 1.88661653 |
| 126 | Abnormality of the Achilles tendon (HP:0005109) | 1.88060378 |
| 127 | Systemic lupus erythematosus (HP:0002725) | 1.88037096 |
| 128 | Abnormality of the umbilical cord (HP:0010881) | 1.88023133 |
| 129 | Choanal stenosis (HP:0000452) | 1.87250694 |
| 130 | Increased serum lactate (HP:0002151) | 1.87062310 |
| 131 | Abnormality of the intrinsic pathway (HP:0010989) | 1.86845262 |
| 132 | Nausea (HP:0002018) | 1.86239052 |
| 133 | Carpal bone hypoplasia (HP:0001498) | 1.85523143 |
| 134 | Glomerulonephritis (HP:0000099) | 1.85428922 |
| 135 | Hyperglycemia (HP:0003074) | 1.85174735 |
| 136 | Impulsivity (HP:0100710) | 1.84506981 |
| 137 | Breast hypoplasia (HP:0003187) | 1.84199029 |
| 138 | Increased serum pyruvate (HP:0003542) | 1.84025393 |
| 139 | Dysautonomia (HP:0002459) | 1.83854461 |
| 140 | Myopathic facies (HP:0002058) | 1.83826729 |
| 141 | Increased purine levels (HP:0004368) | 1.83187717 |
| 142 | Hyperuricemia (HP:0002149) | 1.83187717 |
| 143 | Skin nodule (HP:0200036) | 1.82749068 |
| 144 | Paraparesis (HP:0002385) | 1.80980772 |
| 145 | Disinhibition (HP:0000734) | 1.75360225 |
| 146 | Dysphonia (HP:0001618) | 1.74572409 |
| 147 | Abnormal urine phosphate concentration (HP:0012599) | 1.74138845 |
| 148 | Stridor (HP:0010307) | 1.74029534 |
| 149 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.70527299 |
| 150 | Myoclonus (HP:0001336) | 1.68046129 |
| 151 | Achilles tendon contracture (HP:0001771) | 1.67615755 |
| 152 | Primitive reflexes (palmomental, snout, glabellar) (HP:0002476) | 1.63688082 |
| 153 | Abnormal protein N-linked glycosylation (HP:0012347) | 1.63419654 |
| 154 | Abnormal glycosylation (HP:0012345) | 1.63419654 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | BCKDK | 5.02940277 |
| 2 | BUB1 | 4.14744735 |
| 3 | PDK3 | 3.19579787 |
| 4 | PDK4 | 3.19579787 |
| 5 | WEE1 | 3.07354098 |
| 6 | EPHA2 | 3.05070967 |
| 7 | NEK1 | 2.88770690 |
| 8 | TRIB3 | 2.65343208 |
| 9 | ERN1 | 2.21342321 |
| 10 | STK16 | 2.18182422 |
| 11 | EIF2AK1 | 2.17804860 |
| 12 | CSNK1G3 | 2.14424476 |
| 13 | VRK2 | 2.13131566 |
| 14 | AKT3 | 2.03246842 |
| 15 | PINK1 | 1.92237079 |
| 16 | TESK2 | 1.88920559 |
| 17 | PDK2 | 1.78697013 |
| 18 | NEK2 | 1.77701940 |
| 19 | PHKG1 | 1.77256982 |
| 20 | PHKG2 | 1.77256982 |
| 21 | CSNK1G2 | 1.76550566 |
| 22 | CDC7 | 1.70511640 |
| 23 | IRAK3 | 1.65197217 |
| 24 | PNCK | 1.63159253 |
| 25 | PBK | 1.62637972 |
| 26 | MAP3K11 | 1.61561761 |
| 27 | NME2 | 1.61363804 |
| 28 | CSNK1A1L | 1.60221095 |
| 29 | CSNK1G1 | 1.59586191 |
| 30 | ICK | 1.59020336 |
| 31 | TESK1 | 1.58423381 |
| 32 | TSSK6 | 1.52560007 |
| 33 | SCYL2 | 1.50909739 |
| 34 | BRAF | 1.48274801 |
| 35 | TRIM28 | 1.47463073 |
| 36 | PLK4 | 1.41897515 |
| 37 | ARAF | 1.41885989 |
| 38 | PAK6 | 1.40844143 |
| 39 | TTK | 1.40099898 |
| 40 | LATS1 | 1.40096188 |
| 41 | MAPK15 | 1.39493946 |
| 42 | PRKD3 | 1.37407154 |
| 43 | LMTK2 | 1.36591225 |
| 44 | MAP3K9 | 1.34761377 |
| 45 | EPHB2 | 1.28053462 |
| 46 | DDR2 | 1.23772119 |
| 47 | PIM2 | 1.21711269 |
| 48 | EIF2AK3 | 1.19137834 |
| 49 | DYRK3 | 1.18796446 |
| 50 | CCNB1 | 1.07455882 |
| 51 | WNK3 | 1.03378350 |
| 52 | KDR | 1.03045175 |
| 53 | MUSK | 0.99781118 |
| 54 | SIK1 | 0.97418839 |
| 55 | MST1R | 0.96493809 |
| 56 | NTRK1 | 0.91361177 |
| 57 | SMG1 | 0.89975506 |
| 58 | ACVR1B | 0.89650533 |
| 59 | MAP3K8 | 0.83391785 |
| 60 | AURKA | 0.83090805 |
| 61 | MAP2K2 | 0.81283409 |
| 62 | BRSK1 | 0.80285933 |
| 63 | DMPK | 0.78731057 |
| 64 | FGFR4 | 0.78028958 |
| 65 | STK39 | 0.77096853 |
| 66 | CAMK2D | 0.74780636 |
| 67 | PRKCG | 0.74141919 |
| 68 | MAP2K7 | 0.73517699 |
| 69 | KSR2 | 0.72858715 |
| 70 | PAK1 | 0.71259019 |
| 71 | DAPK1 | 0.70950262 |
| 72 | CSNK1A1 | 0.66676467 |
| 73 | CAMK2G | 0.65414061 |
| 74 | PLK1 | 0.64026814 |
| 75 | STK38 | 0.60879550 |
| 76 | PRKCZ | 0.60126893 |
| 77 | DAPK3 | 0.59475070 |
| 78 | CAMKK2 | 0.58319514 |
| 79 | CAMK1D | 0.57928085 |
| 80 | TYRO3 | 0.57491116 |
| 81 | ILK | 0.57278790 |
| 82 | MAPK12 | 0.56770985 |
| 83 | CDK7 | 0.56535846 |
| 84 | PDPK1 | 0.56027564 |
| 85 | LATS2 | 0.55561629 |
| 86 | CSNK2A1 | 0.55489830 |
| 87 | PAK4 | 0.54157135 |
| 88 | GRK6 | 0.54049441 |
| 89 | DYRK2 | 0.53680377 |
| 90 | PRKAA1 | 0.53481671 |
| 91 | PRKCI | 0.52482266 |
| 92 | DAPK2 | 0.52143954 |
| 93 | CAMK2B | 0.51980747 |
| 94 | MAP2K1 | 0.51864866 |
| 95 | ABL2 | 0.51648837 |
| 96 | ZAK | 0.50514928 |
| 97 | WNK4 | 0.50315617 |
| 98 | BMX | 0.50287946 |
| 99 | OXSR1 | 0.50172537 |
| 100 | MST4 | 0.48607315 |
| 101 | MTOR | 0.48089013 |
| 102 | RPS6KA2 | 0.48030469 |
| 103 | CDK15 | 0.47535785 |
| 104 | PKN2 | 0.47105582 |
| 105 | PLK3 | 0.47077781 |
| 106 | BRSK2 | 0.46847820 |
| 107 | ADRBK2 | 0.45915102 |
| 108 | CDK14 | 0.45730792 |
| 109 | MAP2K3 | 0.45519137 |
| 110 | MAP2K6 | 0.45444868 |
| 111 | TAOK2 | 0.44663309 |
| 112 | CDK11A | 0.43699793 |
| 113 | PRKG2 | 0.43271420 |
| 114 | OBSCN | 0.43131901 |
| 115 | TTN | 0.42981321 |
| 116 | CDK18 | 0.41822989 |
| 117 | PTK2 | 0.41229422 |
| 118 | PAK3 | 0.40741527 |
| 119 | TLK1 | 0.39511673 |
| 120 | CSNK1E | 0.38724951 |
| 121 | MAP4K2 | 0.38697021 |
| 122 | CSNK2A2 | 0.38614578 |
| 123 | LIMK1 | 0.38483240 |
| 124 | FLT3 | 0.37722237 |
| 125 | MAP2K4 | 0.37676278 |
| 126 | MAPK11 | 0.36284045 |
| 127 | CDK1 | 0.36224392 |
| 128 | NME1 | 0.35831179 |
| 129 | MAPKAPK3 | 0.34669438 |
| 130 | MINK1 | 0.34657522 |
| 131 | IRAK2 | 0.33966813 |
| 132 | PRKACG | 0.33953403 |
| 133 | AKT2 | 0.33585775 |
| 134 | MET | 0.33353946 |
| 135 | MARK1 | 0.32030470 |
| 136 | EPHA4 | 0.31096954 |
| 137 | RPS6KB2 | 0.30861037 |
| 138 | BLK | 0.30426491 |
| 139 | CDK19 | 0.28562597 |
| 140 | GRK5 | 0.27798543 |
| 141 | PAK2 | 0.27582864 |
| 142 | CAMKK1 | 0.26812533 |
| 143 | CHEK2 | 0.25786915 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 2.95631904 |
| 2 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 2.95319845 |
| 3 | Folate biosynthesis_Homo sapiens_hsa00790 | 2.84618628 |
| 4 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 2.82586608 |
| 5 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 2.78443596 |
| 6 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 2.67791223 |
| 7 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 2.52284852 |
| 8 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 2.43235052 |
| 9 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 2.26633394 |
| 10 | Fatty acid degradation_Homo sapiens_hsa00071 | 2.22774135 |
| 11 | Nitrogen metabolism_Homo sapiens_hsa00910 | 2.21947776 |
| 12 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 2.19456310 |
| 13 | Carbon metabolism_Homo sapiens_hsa01200 | 2.16939415 |
| 14 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.14777495 |
| 15 | Sulfur relay system_Homo sapiens_hsa04122 | 1.98007196 |
| 16 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.93641124 |
| 17 | Proteasome_Homo sapiens_hsa03050 | 1.91062860 |
| 18 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.86951614 |
| 19 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 1.86907573 |
| 20 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.84853224 |
| 21 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.84457064 |
| 22 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.80283393 |
| 23 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 1.78544481 |
| 24 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.77943866 |
| 25 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.74650970 |
| 26 | Peroxisome_Homo sapiens_hsa04146 | 1.66517755 |
| 27 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.63215776 |
| 28 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.47699195 |
| 29 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.47391745 |
| 30 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 1.46129113 |
| 31 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 1.43107551 |
| 32 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 1.41081411 |
| 33 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.40045210 |
| 34 | Ribosome_Homo sapiens_hsa03010 | 1.39642041 |
| 35 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 1.39461927 |
| 36 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.39092532 |
| 37 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.31197451 |
| 38 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.29925887 |
| 39 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.26060594 |
| 40 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.18401921 |
| 41 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 1.16326636 |
| 42 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 1.15992305 |
| 43 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 1.15053130 |
| 44 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 1.14334581 |
| 45 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.13546260 |
| 46 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 1.11817808 |
| 47 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.10817146 |
| 48 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 1.08922555 |
| 49 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.03947785 |
| 50 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.03409301 |
| 51 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.02946245 |
| 52 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 1.02628871 |
| 53 | Homologous recombination_Homo sapiens_hsa03440 | 1.01151909 |
| 54 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.95169833 |
| 55 | Bile secretion_Homo sapiens_hsa04976 | 0.93438251 |
| 56 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.88832129 |
| 57 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.86032369 |
| 58 | Lysosome_Homo sapiens_hsa04142 | 0.85668389 |
| 59 | Galactose metabolism_Homo sapiens_hsa00052 | 0.85660151 |
| 60 | DNA replication_Homo sapiens_hsa03030 | 0.84968788 |
| 61 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.84813236 |
| 62 | Metabolic pathways_Homo sapiens_hsa01100 | 0.83955813 |
| 63 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.81325948 |
| 64 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 0.80995533 |
| 65 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.80247717 |
| 66 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.78844685 |
| 67 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 0.78530101 |
| 68 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.77723123 |
| 69 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.77436610 |
| 70 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.77155121 |
| 71 | ABC transporters_Homo sapiens_hsa02010 | 0.75018507 |
| 72 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.74720445 |
| 73 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 0.72677827 |
| 74 | Histidine metabolism_Homo sapiens_hsa00340 | 0.72446756 |
| 75 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.71090013 |
| 76 | Other glycan degradation_Homo sapiens_hsa00511 | 0.70895393 |
| 77 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.69699224 |
| 78 | Parkinsons disease_Homo sapiens_hsa05012 | 0.66938512 |
| 79 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.66500614 |
| 80 | RNA polymerase_Homo sapiens_hsa03020 | 0.66250896 |
| 81 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.65941836 |
| 82 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.65589146 |
| 83 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.64911319 |
| 84 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.64519256 |
| 85 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.63706919 |
| 86 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.61403487 |
| 87 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 0.59389160 |
| 88 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.58463242 |
| 89 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.56074475 |
| 90 | Prion diseases_Homo sapiens_hsa05020 | 0.54086875 |
| 91 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.53139114 |
| 92 | Retinol metabolism_Homo sapiens_hsa00830 | 0.51679528 |
| 93 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.50760075 |
| 94 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.47953507 |
| 95 | Base excision repair_Homo sapiens_hsa03410 | 0.47833418 |
| 96 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.46914598 |
| 97 | Mineral absorption_Homo sapiens_hsa04978 | 0.46736480 |
| 98 | RNA transport_Homo sapiens_hsa03013 | 0.46660316 |
| 99 | Huntingtons disease_Homo sapiens_hsa05016 | 0.46421470 |
| 100 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.44738015 |
| 101 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.42054021 |
| 102 | Purine metabolism_Homo sapiens_hsa00230 | 0.41582028 |
| 103 | Protein export_Homo sapiens_hsa03060 | 0.39268034 |
| 104 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.38417856 |
| 105 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.37845579 |
| 106 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.37833913 |
| 107 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.37679873 |
| 108 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.37342336 |
| 109 | Mismatch repair_Homo sapiens_hsa03430 | 0.31789640 |
| 110 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.31567665 |
| 111 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.29865649 |
| 112 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.29621589 |
| 113 | Alzheimers disease_Homo sapiens_hsa05010 | 0.29176001 |
| 114 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.28206481 |
| 115 | Spliceosome_Homo sapiens_hsa03040 | 0.25554458 |
| 116 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.24787535 |

