

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | L-phenylalanine metabolic process (GO:0006558) | 5.88230153 |
| 2 | erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221) | 5.88230153 |
| 3 | L-phenylalanine catabolic process (GO:0006559) | 5.86153043 |
| 4 | erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222) | 5.86153043 |
| 5 | aromatic amino acid family catabolic process (GO:0009074) | 5.50695555 |
| 6 | tryptophan catabolic process (GO:0006569) | 5.21222817 |
| 7 | indole-containing compound catabolic process (GO:0042436) | 5.21222817 |
| 8 | indolalkylamine catabolic process (GO:0046218) | 5.21222817 |
| 9 | * serine family amino acid catabolic process (GO:0009071) | 5.13202716 |
| 10 | * glycine metabolic process (GO:0006544) | 5.01436605 |
| 11 | tryptophan metabolic process (GO:0006568) | 4.92245056 |
| 12 | glyoxylate metabolic process (GO:0046487) | 4.86553753 |
| 13 | urea cycle (GO:0000050) | 4.68419704 |
| 14 | urea metabolic process (GO:0019627) | 4.68419704 |
| 15 | serine family amino acid biosynthetic process (GO:0009070) | 4.67357723 |
| 16 | bile acid biosynthetic process (GO:0006699) | 4.59662699 |
| 17 | kynurenine metabolic process (GO:0070189) | 4.59652271 |
| 18 | * serine family amino acid metabolic process (GO:0009069) | 4.54722393 |
| 19 | imidazole-containing compound metabolic process (GO:0052803) | 4.40776583 |
| 20 | sulfur amino acid catabolic process (GO:0000098) | 4.37743902 |
| 21 | nitrogen cycle metabolic process (GO:0071941) | 4.32094396 |
| 22 | cysteine metabolic process (GO:0006534) | 4.31810985 |
| 23 | aromatic amino acid family metabolic process (GO:0009072) | 4.23613068 |
| 24 | amine catabolic process (GO:0009310) | 4.19203176 |
| 25 | cellular biogenic amine catabolic process (GO:0042402) | 4.19203176 |
| 26 | triglyceride-rich lipoprotein particle remodeling (GO:0034370) | 4.15581779 |
| 27 | * alpha-amino acid catabolic process (GO:1901606) | 4.12048392 |
| 28 | aldehyde catabolic process (GO:0046185) | 4.10049081 |
| 29 | omega-hydroxylase P450 pathway (GO:0097267) | 4.07383742 |
| 30 | bile acid metabolic process (GO:0008206) | 3.93173752 |
| 31 | protein complex biogenesis (GO:0070271) | 3.93021612 |
| 32 | regulation of fibrinolysis (GO:0051917) | 3.92716485 |
| 33 | regulation of gene silencing by RNA (GO:0060966) | 3.92340421 |
| 34 | regulation of posttranscriptional gene silencing (GO:0060147) | 3.92340421 |
| 35 | regulation of gene silencing by miRNA (GO:0060964) | 3.92340421 |
| 36 | * cellular amino acid catabolic process (GO:0009063) | 3.90003952 |
| 37 | amino-acid betaine metabolic process (GO:0006577) | 3.89820535 |
| 38 | homocysteine metabolic process (GO:0050667) | 3.87802524 |
| 39 | mitochondrial respiratory chain complex I assembly (GO:0032981) | 3.87761631 |
| 40 | NADH dehydrogenase complex assembly (GO:0010257) | 3.87761631 |
| 41 | mitochondrial respiratory chain complex I biogenesis (GO:0097031) | 3.87761631 |
| 42 | mitochondrial respiratory chain complex assembly (GO:0033108) | 3.84541021 |
| 43 | indolalkylamine metabolic process (GO:0006586) | 3.79517945 |
| 44 | water-soluble vitamin biosynthetic process (GO:0042364) | 3.76162649 |
| 45 | arginine metabolic process (GO:0006525) | 3.74634698 |
| 46 | L-serine metabolic process (GO:0006563) | 3.74448642 |
| 47 | high-density lipoprotein particle remodeling (GO:0034375) | 3.73486777 |
| 48 | regulation of cholesterol esterification (GO:0010872) | 3.70854842 |
| 49 | negative regulation of fibrinolysis (GO:0051918) | 3.64778025 |
| 50 | cellular modified amino acid catabolic process (GO:0042219) | 3.61922004 |
| 51 | cellular glucuronidation (GO:0052695) | 3.50983835 |
| 52 | tyrosine metabolic process (GO:0006570) | 3.50073851 |
| 53 | pyrimidine deoxyribonucleotide catabolic process (GO:0009223) | 3.47034363 |
| 54 | uronic acid metabolic process (GO:0006063) | 3.46482608 |
| 55 | glucuronate metabolic process (GO:0019585) | 3.46482608 |
| 56 | regulation of protein activation cascade (GO:2000257) | 3.46325378 |
| 57 | coenzyme catabolic process (GO:0009109) | 3.43649460 |
| 58 | urate metabolic process (GO:0046415) | 3.39408411 |
| 59 | exogenous drug catabolic process (GO:0042738) | 3.38133781 |
| 60 | arginine catabolic process (GO:0006527) | 3.34387660 |
| 61 | glutamate metabolic process (GO:0006536) | 3.34308713 |
| 62 | glutamine family amino acid biosynthetic process (GO:0009084) | 3.33913086 |
| 63 | NAD biosynthetic process (GO:0009435) | 3.30627929 |
| 64 | response to nitrosative stress (GO:0051409) | 3.27660431 |
| 65 | * organic acid catabolic process (GO:0016054) | 3.27617984 |
| 66 | * carboxylic acid catabolic process (GO:0046395) | 3.27617984 |
| 67 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.26833892 |
| 68 | complement activation, alternative pathway (GO:0006957) | 3.25708906 |
| 69 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 3.25585271 |
| 70 | RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394) | 3.25318901 |
| 71 | tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) | 3.25318901 |
| 72 | reverse cholesterol transport (GO:0043691) | 3.23593374 |
| 73 | respiratory chain complex IV assembly (GO:0008535) | 3.23134818 |
| 74 | ethanol oxidation (GO:0006069) | 3.22313165 |
| 75 | plasma lipoprotein particle remodeling (GO:0034369) | 3.22284843 |
| 76 | protein-lipid complex remodeling (GO:0034368) | 3.22284843 |
| 77 | macromolecular complex remodeling (GO:0034367) | 3.22284843 |
| 78 | mannosylation (GO:0097502) | 3.21533133 |
| 79 | proline metabolic process (GO:0006560) | 3.19664252 |
| 80 | low-density lipoprotein particle remodeling (GO:0034374) | 3.18613518 |
| 81 | ATP synthesis coupled proton transport (GO:0015986) | 3.18296477 |
| 82 | energy coupled proton transport, down electrochemical gradient (GO:0015985) | 3.18296477 |
| 83 | regulation of complement activation (GO:0030449) | 3.17542748 |
| 84 | cellular ketone body metabolic process (GO:0046950) | 3.17337125 |
| 85 | regulation of bile acid biosynthetic process (GO:0070857) | 3.14454218 |
| 86 | fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540) | 3.14359270 |
| 87 | lysine catabolic process (GO:0006554) | 3.11097710 |
| 88 | lysine metabolic process (GO:0006553) | 3.11097710 |
| 89 | protein carboxylation (GO:0018214) | 3.10353034 |
| 90 | peptidyl-glutamic acid carboxylation (GO:0017187) | 3.10353034 |
| 91 | benzene-containing compound metabolic process (GO:0042537) | 3.09867794 |
| 92 | L-ascorbic acid metabolic process (GO:0019852) | 3.09626038 |
| 93 | cytochrome complex assembly (GO:0017004) | 3.08916240 |
| 94 | branched-chain amino acid catabolic process (GO:0009083) | 3.08880035 |
| 95 | blood coagulation, intrinsic pathway (GO:0007597) | 3.07725222 |
| 96 | amino acid salvage (GO:0043102) | 3.07642389 |
| 97 | L-methionine salvage (GO:0071267) | 3.07642389 |
| 98 | L-methionine biosynthetic process (GO:0071265) | 3.07642389 |
| 99 | regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095) | 3.03570423 |
| 100 | acylglycerol homeostasis (GO:0055090) | 3.01811177 |
| 101 | triglyceride homeostasis (GO:0070328) | 3.01811177 |
| 102 | sulfur amino acid biosynthetic process (GO:0000097) | 3.01026196 |
| 103 | establishment of protein localization to mitochondrial membrane (GO:0090151) | 2.99089082 |
| 104 | negative regulation of cholesterol transport (GO:0032375) | 2.96647877 |
| 105 | negative regulation of sterol transport (GO:0032372) | 2.96647877 |
| 106 | metallo-sulfur cluster assembly (GO:0031163) | 2.96606244 |
| 107 | iron-sulfur cluster assembly (GO:0016226) | 2.96606244 |
| 108 | regulation of triglyceride catabolic process (GO:0010896) | 2.93900720 |
| 109 | proteasome assembly (GO:0043248) | 2.93746427 |
| 110 | bile acid and bile salt transport (GO:0015721) | 2.93054747 |
| 111 | sulfur amino acid metabolic process (GO:0000096) | 2.91657117 |
| 112 | one-carbon metabolic process (GO:0006730) | 2.91508463 |
| 113 | drug catabolic process (GO:0042737) | 2.91473474 |
| 114 | somatic hypermutation of immunoglobulin genes (GO:0016446) | 2.91378212 |
| 115 | somatic diversification of immune receptors via somatic mutation (GO:0002566) | 2.91378212 |
| 116 | pyridine nucleotide biosynthetic process (GO:0019363) | 2.91248392 |
| 117 | nicotinamide nucleotide biosynthetic process (GO:0019359) | 2.91248392 |
| 118 | folic acid metabolic process (GO:0046655) | 2.90346890 |
| 119 | ribosomal small subunit assembly (GO:0000028) | 2.89962152 |
| 120 | alpha-linolenic acid metabolic process (GO:0036109) | 2.89614492 |
| 121 | S-adenosylmethionine metabolic process (GO:0046500) | 2.89023068 |
| 122 | epithelial cilium movement (GO:0003351) | 2.88159151 |
| 123 | positive regulation of cellular amine metabolic process (GO:0033240) | 2.87968956 |
| 124 | tetrahydrofolate metabolic process (GO:0046653) | 2.87920807 |
| 125 | L-methionine biosynthetic process from methylthioadenosine (GO:0019509) | 2.87764684 |
| 126 | base-excision repair, AP site formation (GO:0006285) | 2.86886899 |
| 127 | very-low-density lipoprotein particle assembly (GO:0034379) | 2.85357578 |
| 128 | * small molecule catabolic process (GO:0044282) | 2.83207752 |
| 129 | pyrimidine nucleotide catabolic process (GO:0006244) | 2.82547810 |
| 130 | regulation of non-canonical Wnt signaling pathway (GO:2000050) | 2.80434445 |
| 131 | ketone body metabolic process (GO:1902224) | 2.79216649 |
| 132 | phospholipid efflux (GO:0033700) | 2.79052778 |
| 133 | mitochondrial electron transport, NADH to ubiquinone (GO:0006120) | 2.78915300 |
| 134 | heme transport (GO:0015886) | 2.77326182 |
| 135 | indole-containing compound metabolic process (GO:0042430) | 2.76962125 |
| 136 | drug transmembrane transport (GO:0006855) | 2.76165115 |
| 137 | branched-chain amino acid metabolic process (GO:0009081) | 2.75438937 |
| 138 | photoreceptor cell maintenance (GO:0045494) | 2.75236777 |
| 139 | behavioral response to nicotine (GO:0035095) | 2.73190325 |
| 140 | rRNA modification (GO:0000154) | 2.71987232 |
| 141 | glutamine family amino acid metabolic process (GO:0009064) | 2.71935856 |
| 142 | platelet dense granule organization (GO:0060155) | 2.70765581 |
| 143 | nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291) | 2.70665583 |
| 144 | regulation of mitotic spindle checkpoint (GO:1903504) | 2.69411929 |
| 145 | regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266) | 2.69411929 |
| 146 | chaperone-mediated protein transport (GO:0072321) | 2.67830159 |
| 147 | short-chain fatty acid metabolic process (GO:0046459) | 2.66994944 |
| 148 | regulation of cholesterol metabolic process (GO:0090181) | 2.66949361 |
| 149 | chromatin remodeling at centromere (GO:0031055) | 2.65871010 |
| 150 | oxidative demethylation (GO:0070989) | 2.65281364 |
| 151 | DNA deamination (GO:0045006) | 2.64899920 |
| 152 | vitamin biosynthetic process (GO:0009110) | 2.57501724 |
| 153 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 2.55114200 |
| 154 | peptidyl-histidine modification (GO:0018202) | 2.54999040 |
| 155 | pseudouridine synthesis (GO:0001522) | 2.54433200 |
| 156 | quinone biosynthetic process (GO:1901663) | 2.52277586 |
| 157 | deoxyribonucleotide catabolic process (GO:0009264) | 2.52136818 |
| 158 | epoxygenase P450 pathway (GO:0019373) | 2.51931207 |
| 159 | nephron epithelium morphogenesis (GO:0072088) | 2.49994098 |
| 160 | nephron tubule morphogenesis (GO:0072078) | 2.49994098 |
| 161 | seminiferous tubule development (GO:0072520) | 2.49923504 |
| 162 | ubiquinone biosynthetic process (GO:0006744) | 2.47827440 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 5.98993539 |
| 2 | EGR1_23403033_ChIP-Seq_LIVER_Mouse | 4.54686664 |
| 3 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 4.14398343 |
| 4 | RXR_22158963_ChIP-Seq_LIVER_Mouse | 4.10926902 |
| 5 | PPARA_22158963_ChIP-Seq_LIVER_Mouse | 3.54276288 |
| 6 | CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 3.39316283 |
| 7 | KLF5_18264089_ChIP-ChIP_MESCs_Mouse | 3.25593719 |
| 8 | KLF4_18264089_ChIP-ChIP_MESCs_Mouse | 3.25593719 |
| 9 | KLF2_18264089_ChIP-ChIP_MESCs_Mouse | 3.25593719 |
| 10 | ZNF274_21170338_ChIP-Seq_K562_Hela | 3.23521031 |
| 11 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 3.13406419 |
| 12 | E2F7_22180533_ChIP-Seq_HELA_Human | 3.10779569 |
| 13 | LXR_22158963_ChIP-Seq_LIVER_Mouse | 2.81798412 |
| 14 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 2.79431042 |
| 15 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 2.77542708 |
| 16 | FOXO1_23066095_ChIP-Seq_LIVER_Mouse | 2.66696653 |
| 17 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.59920922 |
| 18 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 2.57045241 |
| 19 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 2.50044217 |
| 20 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 2.29903831 |
| 21 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 2.29854023 |
| 22 | POU5F1_18358816_ChIP-ChIP_MESCs_Mouse | 2.19382657 |
| 23 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 2.12721229 |
| 24 | VDR_22108803_ChIP-Seq_LS180_Human | 2.12229635 |
| 25 | * NACC1_18358816_ChIP-ChIP_MESCs_Mouse | 2.11367061 |
| 26 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 2.10466953 |
| 27 | TCF3_18692474_ChIP-Seq_MEFs_Mouse | 2.10096562 |
| 28 | * MYC_18358816_ChIP-ChIP_MESCs_Mouse | 2.09168102 |
| 29 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 2.04603443 |
| 30 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 2.02687297 |
| 31 | IRF1_19129219_ChIP-ChIP_H3396_Human | 2.02556105 |
| 32 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 2.00614148 |
| 33 | SOX2_18555785_ChIP-Seq_MESCs_Mouse | 1.97152237 |
| 34 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 1.94196595 |
| 35 | NANOG_18555785_ChIP-Seq_MESCs_Mouse | 1.89630863 |
| 36 | CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human | 1.88841012 |
| 37 | SMAD1_18555785_ChIP-Seq_MESCs_Mouse | 1.86212122 |
| 38 | * NANOG_18358816_ChIP-ChIP_MESCs_Mouse | 1.81191527 |
| 39 | * TCF3_18692474_ChIP-Seq_MESCs_Mouse | 1.81188378 |
| 40 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 1.81104739 |
| 41 | NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 1.76393105 |
| 42 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 1.75850773 |
| 43 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 1.72929074 |
| 44 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 1.72659229 |
| 45 | SOX2_18358816_ChIP-ChIP_MESCs_Mouse | 1.71376782 |
| 46 | NR1I2_20693526_ChIP-Seq_LIVER_Mouse | 1.70118511 |
| 47 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.66587643 |
| 48 | FUS_26573619_Chip-Seq_HEK293_Human | 1.63565197 |
| 49 | E2F1_18555785_ChIP-Seq_MESCs_Mouse | 1.63152280 |
| 50 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 1.62270931 |
| 51 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.62092466 |
| 52 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.61697675 |
| 53 | SOX2_18692474_ChIP-Seq_MEFs_Mouse | 1.60511509 |
| 54 | HNF4A_19761587_ChIP-ChIP_CACO-2_Human | 1.57082935 |
| 55 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.54705712 |
| 56 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.54055135 |
| 57 | KLF4_19030024_ChIP-ChIP_MESCs_Mouse | 1.49802144 |
| 58 | EWS_26573619_Chip-Seq_HEK293_Human | 1.48098338 |
| 59 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 1.44613202 |
| 60 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.44394674 |
| 61 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 1.44238974 |
| 62 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 1.43240002 |
| 63 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 1.36189953 |
| 64 | * NR0B1_18358816_ChIP-ChIP_MESCs_Mouse | 1.35237602 |
| 65 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.32940796 |
| 66 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.30984424 |
| 67 | SMAD3_22036565_ChIP-Seq_ESCs_Mouse | 1.30720824 |
| 68 | * CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 1.28734768 |
| 69 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 1.28725675 |
| 70 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 1.28584062 |
| 71 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.28570439 |
| 72 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.28549321 |
| 73 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 1.27943673 |
| 74 | SRF_21415370_ChIP-Seq_HL-1_Mouse | 1.27342572 |
| 75 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 1.26576812 |
| 76 | OCT4_18692474_ChIP-Seq_MEFs_Mouse | 1.23765703 |
| 77 | * THAP11_20581084_ChIP-Seq_MESCs_Mouse | 1.22951231 |
| 78 | POU5F1_16518401_ChIP-PET_MESCs_Mouse | 1.22115439 |
| 79 | NANOG_18692474_ChIP-Seq_MEFs_Mouse | 1.22047414 |
| 80 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.21977451 |
| 81 | * SOX2_18692474_ChIP-Seq_MESCs_Mouse | 1.21310505 |
| 82 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.19942077 |
| 83 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.19500701 |
| 84 | ESR1_15608294_ChIP-ChIP_MCF-7_Human | 1.19317296 |
| 85 | * ERA_21632823_ChIP-Seq_H3396_Human | 1.17361047 |
| 86 | ELK1_19687146_ChIP-ChIP_HELA_Human | 1.17159334 |
| 87 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.16823856 |
| 88 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.16823856 |
| 89 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.16502068 |
| 90 | XRN2_22483619_ChIP-Seq_HELA_Human | 1.15958365 |
| 91 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.15163812 |
| 92 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.14947276 |
| 93 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.13832616 |
| 94 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.12879821 |
| 95 | * POU5F1_18692474_ChIP-Seq_MESCs_Mouse | 1.12408017 |
| 96 | ZFP281_18358816_ChIP-ChIP_MESCs_Mouse | 1.11411520 |
| 97 | RCOR2_21632747_ChIP-Seq_MESCs_Mouse | 1.10658413 |
| 98 | CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons | 1.09962908 |
| 99 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.09079301 |
| 100 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.08179934 |
| 101 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.06904478 |
| 102 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.06904478 |
| 103 | AR_20517297_ChIP-Seq_VCAP_Human | 1.06589808 |
| 104 | ASH2L_23239880_ChIP-Seq_MESCs_Mouse | 1.06427193 |
| 105 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.05721143 |
| 106 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.05552763 |
| 107 | P300_19829295_ChIP-Seq_ESCs_Human | 1.03898615 |
| 108 | FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse | 1.03346660 |
| 109 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.01659006 |
| 110 | * RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.00549008 |
| 111 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.00141550 |
| 112 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 0.98551041 |
| 113 | FOXP1_21924763_ChIP-Seq_HESCs_Human | 0.97832798 |
| 114 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 0.97128653 |
| 115 | NANOG_16153702_ChIP-ChIP_HESCs_Human | 0.96983867 |
| 116 | TAF15_26573619_Chip-Seq_HEK293_Human | 0.96837045 |
| 117 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 0.96224647 |
| 118 | FOXP3_21729870_ChIP-Seq_TREG_Human | 0.96212631 |
| 119 | FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 0.95557160 |
| 120 | SOX2_19030024_ChIP-ChIP_MESCs_Mouse | 0.92961322 |
| 121 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 0.91975705 |
| 122 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 0.91372418 |
| 123 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 0.91208323 |
| 124 | * TTF2_22483619_ChIP-Seq_HELA_Human | 0.90946099 |
| 125 | AR_21909140_ChIP-Seq_LNCAP_Human | 0.90739871 |
| 126 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 0.90623099 |
| 127 | BCL3_23251550_ChIP-Seq_MUSCLE_Mouse | 0.89696417 |
| 128 | * NANOG_18692474_ChIP-Seq_MESCs_Mouse | 0.87858411 |
| 129 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 0.87513278 |
| 130 | VDR_23849224_ChIP-Seq_CD4+_Human | 0.86692053 |
| 131 | NCOR_22424771_ChIP-Seq_293T_Human | 0.85813919 |
| 132 | SOX2_16153702_ChIP-ChIP_HESCs_Human | 0.85752808 |
| 133 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 0.85079620 |
| 134 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 0.84523772 |
| 135 | RXRA_24833708_ChIP-Seq_LIVER_Mouse | 0.84200219 |
| 136 | HOXB4_20404135_ChIP-ChIP_EML_Mouse | 0.83118352 |
| 137 | OCT4_20526341_ChIP-Seq_ESCs_Human | 0.82658307 |
| 138 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 0.82159245 |
| 139 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 0.82085863 |
| 140 | TCF7L2_21901280_ChIP-Seq_H4IIE_Rat | 0.82022558 |
| 141 | BCAT_22108803_ChIP-Seq_LS180_Human | 0.81822128 |
| 142 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 0.81703906 |
| 143 | SOX17_20123909_ChIP-Seq_XEN_Mouse | 0.80737905 |
| 144 | KAP1_27257070_Chip-Seq_ESCs_Mouse | 0.80172403 |
| 145 | PHF8_20622854_ChIP-Seq_HELA_Human | 0.79721885 |
| 146 | HTT_18923047_ChIP-ChIP_STHdh_Human | 0.79320588 |
| 147 | KLF4_18358816_ChIP-ChIP_MESCs_Mouse | 0.78106248 |
| 148 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 0.74068705 |
| 149 | GABP_19822575_ChIP-Seq_HepG2_Human | 0.72955608 |
| 150 | STAT3_19079543_ChIP-ChIP_MESCs_Mouse | 0.72946698 |
| 151 | NANOG_16518401_ChIP-PET_MESCs_Mouse | 0.72690516 |
| 152 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 0.72484351 |
| 153 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 0.71824018 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0002139_abnormal_hepatobiliary_system | 6.03050059 |
| 2 | MP0005360_urolithiasis | 5.50560549 |
| 3 | MP0005085_abnormal_gallbladder_physiolo | 4.73501633 |
| 4 | MP0003806_abnormal_nucleotide_metabolis | 4.67102533 |
| 5 | MP0005365_abnormal_bile_salt | 4.14646060 |
| 6 | MP0003136_yellow_coat_color | 3.64573266 |
| 7 | MP0008875_abnormal_xenobiotic_pharmacok | 3.49163762 |
| 8 | MP0003122_maternal_imprinting | 2.81852461 |
| 9 | MP0005332_abnormal_amino_acid | 2.79173614 |
| 10 | MP0006292_abnormal_olfactory_placode | 2.74796931 |
| 11 | MP0000566_synostosis | 2.47609708 |
| 12 | MP0008877_abnormal_DNA_methylation | 2.46268870 |
| 13 | MP0004019_abnormal_vitamin_homeostasis | 2.42696487 |
| 14 | MP0003787_abnormal_imprinting | 2.39415094 |
| 15 | MP0003718_maternal_effect | 2.30488905 |
| 16 | MP0003011_delayed_dark_adaptation | 2.27621683 |
| 17 | MP0003252_abnormal_bile_duct | 2.22978341 |
| 18 | MP0003878_abnormal_ear_physiology | 2.14036085 |
| 19 | MP0005377_hearing/vestibular/ear_phenot | 2.14036085 |
| 20 | MP0004381_abnormal_hair_follicle | 2.11215659 |
| 21 | MP0002938_white_spotting | 2.04363724 |
| 22 | MP0009379_abnormal_foot_pigmentation | 2.02268385 |
| 23 | MP0003195_calcinosis | 2.01865819 |
| 24 | MP0004147_increased_porphyrin_level | 1.92721976 |
| 25 | MP0010329_abnormal_lipoprotein_level | 1.90086714 |
| 26 | MP0005083_abnormal_biliary_tract | 1.81953727 |
| 27 | MP0003121_genomic_imprinting | 1.79288989 |
| 28 | MP0001984_abnormal_olfaction | 1.71805225 |
| 29 | MP0001764_abnormal_homeostasis | 1.70558171 |
| 30 | MP0003186_abnormal_redox_activity | 1.68369252 |
| 31 | MP0002653_abnormal_ependyma_morphology | 1.63631979 |
| 32 | MP0009840_abnormal_foam_cell | 1.62504710 |
| 33 | MP0005408_hypopigmentation | 1.60870413 |
| 34 | MP0002254_reproductive_system_inflammat | 1.59611824 |
| 35 | MP0003315_abnormal_perineum_morphology | 1.57803029 |
| 36 | MP0001188_hyperpigmentation | 1.49271808 |
| 37 | MP0002102_abnormal_ear_morphology | 1.48902503 |
| 38 | MP0009053_abnormal_anal_canal | 1.48700630 |
| 39 | MP0008872_abnormal_physiological_respon | 1.45677369 |
| 40 | MP0006072_abnormal_retinal_apoptosis | 1.42735121 |
| 41 | MP0001666_abnormal_nutrient_absorption | 1.41751125 |
| 42 | MP0002837_dystrophic_cardiac_calcinosis | 1.41083892 |
| 43 | MP0003567_abnormal_fetal_cardiomyocyte | 1.39084770 |
| 44 | MP0005646_abnormal_pituitary_gland | 1.38132863 |
| 45 | MP0003693_abnormal_embryo_hatching | 1.35189497 |
| 46 | MP0002249_abnormal_larynx_morphology | 1.34091569 |
| 47 | MP0003868_abnormal_feces_composition | 1.33551926 |
| 48 | MP0005075_abnormal_melanosome_morpholog | 1.33237710 |
| 49 | MP0000372_irregular_coat_pigmentation | 1.31377924 |
| 50 | MP0009697_abnormal_copulation | 1.30101732 |
| 51 | MP0001986_abnormal_taste_sensitivity | 1.29866938 |
| 52 | MP0005409_darkened_coat_color | 1.24846506 |
| 53 | MP0002822_catalepsy | 1.22809177 |
| 54 | MP0005647_abnormal_sex_gland | 1.22218234 |
| 55 | MP0003880_abnormal_central_pattern | 1.22097939 |
| 56 | MP0002876_abnormal_thyroid_physiology | 1.21220535 |
| 57 | MP0004133_heterotaxia | 1.18904244 |
| 58 | MP0002160_abnormal_reproductive_system | 1.18305528 |
| 59 | MP0005319_abnormal_enzyme/_coenzyme | 1.15932948 |
| 60 | MP0003938_abnormal_ear_development | 1.14931352 |
| 61 | MP0000049_abnormal_middle_ear | 1.12789986 |
| 62 | MP0005410_abnormal_fertilization | 1.12727405 |
| 63 | MP0005253_abnormal_eye_physiology | 1.11868479 |
| 64 | MP0008789_abnormal_olfactory_epithelium | 1.10610787 |
| 65 | MP0001968_abnormal_touch/_nociception | 1.10568692 |
| 66 | MP0003119_abnormal_digestive_system | 1.07782582 |
| 67 | MP0008995_early_reproductive_senescence | 1.07646038 |
| 68 | MP0005645_abnormal_hypothalamus_physiol | 1.07628068 |
| 69 | MP0002736_abnormal_nociception_after | 1.07488505 |
| 70 | MP0000609_abnormal_liver_physiology | 1.05568535 |
| 71 | MP0002138_abnormal_hepatobiliary_system | 1.04753662 |
| 72 | MP0003786_premature_aging | 1.03949262 |
| 73 | MP0005084_abnormal_gallbladder_morpholo | 1.03460309 |
| 74 | MP0005499_abnormal_olfactory_system | 1.02034457 |
| 75 | MP0005394_taste/olfaction_phenotype | 1.02034457 |
| 76 | MP0002118_abnormal_lipid_homeostasis | 1.00307075 |
| 77 | MP0001919_abnormal_reproductive_system | 0.99354323 |
| 78 | MP0006276_abnormal_autonomic_nervous | 0.99310947 |
| 79 | MP0003890_abnormal_embryonic-extraembry | 0.99010814 |
| 80 | MP0005451_abnormal_body_composition | 0.98124093 |
| 81 | MP0002751_abnormal_autonomic_nervous | 0.96928788 |
| 82 | MP0002638_abnormal_pupillary_reflex | 0.96927347 |
| 83 | MP0008058_abnormal_DNA_repair | 0.96438967 |
| 84 | MP0004043_abnormal_pH_regulation | 0.96025675 |
| 85 | MP0005395_other_phenotype | 0.92701453 |
| 86 | MP0008260_abnormal_autophagy | 0.91861313 |
| 87 | MP0009384_cardiac_valve_regurgitation | 0.91083822 |
| 88 | MP0005389_reproductive_system_phenotype | 0.90109020 |
| 89 | MP0001529_abnormal_vocalization | 0.89724422 |
| 90 | MP0009643_abnormal_urine_homeostasis | 0.89095245 |
| 91 | MP0003111_abnormal_nucleus_morphology | 0.89030880 |
| 92 | MP0002928_abnormal_bile_duct | 0.88562090 |
| 93 | MP0002234_abnormal_pharynx_morphology | 0.86587745 |
| 94 | MP0003646_muscle_fatigue | 0.85911955 |
| 95 | MP0005174_abnormal_tail_pigmentation | 0.85669764 |
| 96 | MP0008932_abnormal_embryonic_tissue | 0.85434226 |
| 97 | MP0003941_abnormal_skin_development | 0.84536538 |
| 98 | MP0004142_abnormal_muscle_tone | 0.83810578 |
| 99 | MP0001324_abnormal_eye_pigmentation | 0.81068511 |
| 100 | MP0001286_abnormal_eye_development | 0.79483169 |
| 101 | MP0001929_abnormal_gametogenesis | 0.78935947 |
| 102 | MP0005195_abnormal_posterior_eye | 0.78461852 |
| 103 | MP0000613_abnormal_salivary_gland | 0.78139696 |
| 104 | MP0005266_abnormal_metabolism | 0.77692463 |
| 105 | MP0010094_abnormal_chromosome_stability | 0.77271422 |
| 106 | MP0001486_abnormal_startle_reflex | 0.77182928 |
| 107 | MP0005636_abnormal_mineral_homeostasis | 0.77158869 |
| 108 | MP0002233_abnormal_nose_morphology | 0.76959592 |
| 109 | MP0003698_abnormal_male_reproductive | 0.75767259 |
| 110 | MP0004957_abnormal_blastocyst_morpholog | 0.75172735 |
| 111 | MP0006036_abnormal_mitochondrial_physio | 0.74575819 |
| 112 | MP0010030_abnormal_orbit_morphology | 0.73594601 |
| 113 | MP0000026_abnormal_inner_ear | 0.71885471 |
| 114 | MP0009672_abnormal_birth_weight | 0.71399854 |
| 115 | MP0005391_vision/eye_phenotype | 0.70143405 |
| 116 | MP0003937_abnormal_limbs/digits/tail_de | 0.69800616 |
| 117 | MP0000653_abnormal_sex_gland | 0.69472346 |
| 118 | MP0000467_abnormal_esophagus_morphology | 0.69173646 |
| 119 | MP0002132_abnormal_respiratory_system | 0.68954324 |
| 120 | MP0002272_abnormal_nervous_system | 0.68877350 |
| 121 | MP0005376_homeostasis/metabolism_phenot | 0.68551221 |
| 122 | MP0002557_abnormal_social/conspecific_i | 0.68306690 |
| 123 | MP0001119_abnormal_female_reproductive | 0.67889698 |
| 124 | MP0008007_abnormal_cellular_replicative | 0.67198665 |
| 125 | MP0001293_anophthalmia | 0.66866724 |
| 126 | MP0005584_abnormal_enzyme/coenzyme_acti | 0.66758757 |
| 127 | MP0001145_abnormal_male_reproductive | 0.65937228 |
| 128 | MP0009765_abnormal_xenobiotic_induced | 0.65811048 |
| 129 | MP0002277_abnormal_respiratory_mucosa | 0.65149659 |
| 130 | MP0003936_abnormal_reproductive_system | 0.65136909 |
| 131 | MP0001963_abnormal_hearing_physiology | 0.64437614 |
| 132 | MP0000678_abnormal_parathyroid_gland | 0.63400820 |
| 133 | MP0001756_abnormal_urination | 0.62955852 |
| 134 | MP0001485_abnormal_pinna_reflex | 0.60830486 |
| 135 | MP0002111_abnormal_tail_morphology | 0.59935411 |
| 136 | MP0000598_abnormal_liver_morphology | 0.59097779 |
| 137 | MP0006035_abnormal_mitochondrial_morpho | 0.57874079 |
| 138 | MP0005551_abnormal_eye_electrophysiolog | 0.57260190 |
| 139 | MP0000579_abnormal_nail_morphology | 0.57032555 |
| 140 | MP0000631_abnormal_neuroendocrine_gland | 0.56673274 |
| 141 | MP0002177_abnormal_outer_ear | 0.55897368 |
| 142 | MP0002098_abnormal_vibrissa_morphology | 0.54949031 |
| 143 | MP0005248_abnormal_Harderian_gland | 0.52962662 |
| 144 | MP0000762_abnormal_tongue_morphology | 0.52682694 |
| 145 | MP0003699_abnormal_female_reproductive | 0.52592949 |
| 146 | MP0001661_extended_life_span | 0.52538092 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormality of monocarboxylic acid metabolism (HP:0010996) | 5.62887828 |
| 2 | Intrahepatic cholestasis (HP:0001406) | 5.27280441 |
| 3 | Abnormality of aromatic amino acid family metabolism (HP:0004338) | 5.18014130 |
| 4 | Prolonged partial thromboplastin time (HP:0003645) | 5.09039917 |
| 5 | Abnormality of pyrimidine metabolism (HP:0004353) | 4.55456624 |
| 6 | * Hyperglycinemia (HP:0002154) | 4.15439638 |
| 7 | Hypobetalipoproteinemia (HP:0003563) | 4.14989734 |
| 8 | * Hyperglycinuria (HP:0003108) | 3.98818701 |
| 9 | * Abnormality of serine family amino acid metabolism (HP:0010894) | 3.61845061 |
| 10 | * Abnormality of glycine metabolism (HP:0010895) | 3.61845061 |
| 11 | Abnormality of methionine metabolism (HP:0010901) | 3.45059284 |
| 12 | Hyperammonemia (HP:0001987) | 3.35414423 |
| 13 | Abnormality of aspartate family amino acid metabolism (HP:0010899) | 3.33189135 |
| 14 | Xanthomatosis (HP:0000991) | 3.29505549 |
| 15 | Deep venous thrombosis (HP:0002625) | 3.29421606 |
| 16 | Joint hemorrhage (HP:0005261) | 3.26672168 |
| 17 | Abnormality of glutamine family amino acid metabolism (HP:0010902) | 3.25374386 |
| 18 | Abnormality of sulfur amino acid metabolism (HP:0004339) | 3.13313898 |
| 19 | Pancreatic fibrosis (HP:0100732) | 3.13089455 |
| 20 | True hermaphroditism (HP:0010459) | 3.09595995 |
| 21 | Acute necrotizing encephalopathy (HP:0006965) | 3.08353599 |
| 22 | Colon cancer (HP:0003003) | 3.06847362 |
| 23 | Pancreatic cysts (HP:0001737) | 3.04241634 |
| 24 | Abnormality of the labia minora (HP:0012880) | 3.03928378 |
| 25 | Hepatocellular necrosis (HP:0001404) | 3.00104484 |
| 26 | Delayed CNS myelination (HP:0002188) | 2.97055816 |
| 27 | Mitochondrial inheritance (HP:0001427) | 2.91861084 |
| 28 | * Abnormality of serum amino acid levels (HP:0003112) | 2.91069008 |
| 29 | Medial flaring of the eyebrow (HP:0010747) | 2.87769572 |
| 30 | Fat malabsorption (HP:0002630) | 2.85855131 |
| 31 | Hyperlipoproteinemia (HP:0010980) | 2.82559180 |
| 32 | * Lethargy (HP:0001254) | 2.81047843 |
| 33 | Abnormal mitochondria in muscle tissue (HP:0008316) | 2.76183676 |
| 34 | Hypolipoproteinemia (HP:0010981) | 2.75353953 |
| 35 | Cerebral edema (HP:0002181) | 2.70652406 |
| 36 | Complement deficiency (HP:0004431) | 2.69949566 |
| 37 | Abnormality of midbrain morphology (HP:0002418) | 2.68004433 |
| 38 | Molar tooth sign on MRI (HP:0002419) | 2.68004433 |
| 39 | Ketosis (HP:0001946) | 2.63945037 |
| 40 | Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688) | 2.62413106 |
| 41 | Abnormality of nucleobase metabolism (HP:0010932) | 2.60741425 |
| 42 | Increased CSF lactate (HP:0002490) | 2.59888298 |
| 43 | Nephronophthisis (HP:0000090) | 2.59450818 |
| 44 | Methylmalonic acidemia (HP:0002912) | 2.58802064 |
| 45 | Abnormal number of erythroid precursors (HP:0012131) | 2.58214060 |
| 46 | Abnormality of the axillary hair (HP:0100134) | 2.51839397 |
| 47 | Abnormality of secondary sexual hair (HP:0009888) | 2.51839397 |
| 48 | Hypoglycemic coma (HP:0001325) | 2.51632125 |
| 49 | Spontaneous abortion (HP:0005268) | 2.51559033 |
| 50 | Conjugated hyperbilirubinemia (HP:0002908) | 2.47642623 |
| 51 | Progressive external ophthalmoplegia (HP:0000590) | 2.47390576 |
| 52 | Progressive macrocephaly (HP:0004481) | 2.45812654 |
| 53 | Epidermoid cyst (HP:0200040) | 2.42616759 |
| 54 | Glycosuria (HP:0003076) | 2.42090023 |
| 55 | Abnormality of urine glucose concentration (HP:0011016) | 2.42090023 |
| 56 | Reticulocytopenia (HP:0001896) | 2.41555224 |
| 57 | Cerebral palsy (HP:0100021) | 2.40958641 |
| 58 | Alkalosis (HP:0001948) | 2.39388015 |
| 59 | Congenital primary aphakia (HP:0007707) | 2.38435880 |
| 60 | Type I transferrin isoform profile (HP:0003642) | 2.36770147 |
| 61 | 3-Methylglutaconic aciduria (HP:0003535) | 2.36643019 |
| 62 | Abnormality of cells of the erythroid lineage (HP:0012130) | 2.35978321 |
| 63 | Methylmalonic aciduria (HP:0012120) | 2.35920715 |
| 64 | Microvesicular hepatic steatosis (HP:0001414) | 2.34387685 |
| 65 | Abnormality of the level of lipoprotein cholesterol (HP:0010979) | 2.33810738 |
| 66 | Chronic hepatic failure (HP:0100626) | 2.33768887 |
| 67 | Gait imbalance (HP:0002141) | 2.33462300 |
| 68 | Increased hepatocellular lipid droplets (HP:0006565) | 2.31585035 |
| 69 | Nephrogenic diabetes insipidus (HP:0009806) | 2.31259677 |
| 70 | Congenital stationary night blindness (HP:0007642) | 2.30675055 |
| 71 | Reduced antithrombin III activity (HP:0001976) | 2.28619554 |
| 72 | Abolished electroretinogram (ERG) (HP:0000550) | 2.26607391 |
| 73 | Cystic liver disease (HP:0006706) | 2.25841772 |
| 74 | Dicarboxylic aciduria (HP:0003215) | 2.23576688 |
| 75 | Abnormality of dicarboxylic acid metabolism (HP:0010995) | 2.23576688 |
| 76 | Muscle abnormality related to mitochondrial dysfunction (HP:0003800) | 2.22544937 |
| 77 | Malnutrition (HP:0004395) | 2.22502769 |
| 78 | Steatorrhea (HP:0002570) | 2.21977212 |
| 79 | Pseudobulbar signs (HP:0002200) | 2.21430771 |
| 80 | Abnormality of fatty-acid metabolism (HP:0004359) | 2.21083519 |
| 81 | Hypophosphatemic rickets (HP:0004912) | 2.20585096 |
| 82 | Hyperbilirubinemia (HP:0002904) | 2.20272355 |
| 83 | Supernumerary spleens (HP:0009799) | 2.18851508 |
| 84 | Optic disc pallor (HP:0000543) | 2.17323460 |
| 85 | Megaloblastic anemia (HP:0001889) | 2.16252062 |
| 86 | Aplasia/Hypoplasia involving the musculature (HP:0001460) | 2.15440824 |
| 87 | Abnormality of the renal medulla (HP:0100957) | 2.15031758 |
| 88 | Breast hypoplasia (HP:0003187) | 2.14399936 |
| 89 | Osteomalacia (HP:0002749) | 2.13665165 |
| 90 | Vaginal atresia (HP:0000148) | 2.12653210 |
| 91 | Rickets (HP:0002748) | 2.12518364 |
| 92 | Abnormality of the common coagulation pathway (HP:0010990) | 2.12253783 |
| 93 | Gout (HP:0001997) | 2.12072674 |
| 94 | Decreased central vision (HP:0007663) | 2.11908843 |
| 95 | Hyperphosphaturia (HP:0003109) | 2.10799421 |
| 96 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 2.10299625 |
| 97 | Genital tract atresia (HP:0001827) | 2.09227821 |
| 98 | Enlarged kidneys (HP:0000105) | 2.08611858 |
| 99 | Hypoalphalipoproteinemia (HP:0003233) | 2.06826540 |
| 100 | Dry hair (HP:0011359) | 2.02594891 |
| 101 | Congenital hepatic fibrosis (HP:0002612) | 2.01991630 |
| 102 | Occipital encephalocele (HP:0002085) | 2.01982318 |
| 103 | Bile duct proliferation (HP:0001408) | 2.01865028 |
| 104 | Abnormal biliary tract physiology (HP:0012439) | 2.01865028 |
| 105 | Renal Fanconi syndrome (HP:0001994) | 2.00295563 |
| 106 | Meckel diverticulum (HP:0002245) | 1.99845324 |
| 107 | Hypochromic microcytic anemia (HP:0004840) | 1.99660202 |
| 108 | Proximal tubulopathy (HP:0000114) | 1.98584950 |
| 109 | Anophthalmia (HP:0000528) | 1.97203096 |
| 110 | Bilateral microphthalmos (HP:0007633) | 1.96234006 |
| 111 | Abnormal sex determination (HP:0012244) | 1.96044848 |
| 112 | Sex reversal (HP:0012245) | 1.96044848 |
| 113 | Abnormality of complement system (HP:0005339) | 1.95733068 |
| 114 | Generalized aminoaciduria (HP:0002909) | 1.95170543 |
| 115 | Lactic acidosis (HP:0003128) | 1.93862765 |
| 116 | Abnormality of the ileum (HP:0001549) | 1.92548524 |
| 117 | Confusion (HP:0001289) | 1.92473808 |
| 118 | Abnormality of the renal cortex (HP:0011035) | 1.91182676 |
| 119 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 1.90587772 |
| 120 | Aplasia/hypoplasia of the uterus (HP:0008684) | 1.90463996 |
| 121 | Poor coordination (HP:0002370) | 1.90106083 |
| 122 | Hepatic necrosis (HP:0002605) | 1.89885907 |
| 123 | Rib fusion (HP:0000902) | 1.89696455 |
| 124 | Opisthotonus (HP:0002179) | 1.89397663 |
| 125 | Renal cortical cysts (HP:0000803) | 1.87647460 |
| 126 | Abnormality of long-chain fatty-acid metabolism (HP:0010964) | 1.86960029 |
| 127 | Hypoglycemic seizures (HP:0002173) | 1.85811960 |
| 128 | Increased serum lactate (HP:0002151) | 1.85555125 |
| 129 | Absent radius (HP:0003974) | 1.85471088 |
| 130 | Hyperinsulinemic hypoglycemia (HP:0000825) | 1.85421666 |
| 131 | * Irritability (HP:0000737) | 1.85205206 |
| 132 | Abnormal urine phosphate concentration (HP:0012599) | 1.84241128 |
| 133 | Increased intramyocellular lipid droplets (HP:0012240) | 1.83979649 |
| 134 | Broad foot (HP:0001769) | 1.83933705 |
| 135 | Metabolic acidosis (HP:0001942) | 1.83371363 |
| 136 | Acute encephalopathy (HP:0006846) | 1.83086386 |
| 137 | Attenuation of retinal blood vessels (HP:0007843) | 1.81845823 |
| 138 | Vomiting (HP:0002013) | 1.81621552 |
| 139 | Aplasia involving forearm bones (HP:0009822) | 1.81136679 |
| 140 | Absent forearm bone (HP:0003953) | 1.81136679 |
| 141 | Macrocytic anemia (HP:0001972) | 1.80768592 |
| 142 | Abnormal respiratory epithelium morphology (HP:0012253) | 1.80600890 |
| 143 | Abnormal respiratory motile cilium morphology (HP:0005938) | 1.80600890 |
| 144 | Abnormal protein glycosylation (HP:0012346) | 1.78883452 |
| 145 | Abnormal glycosylation (HP:0012345) | 1.78883452 |
| 146 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 1.78883452 |
| 147 | Abnormal protein N-linked glycosylation (HP:0012347) | 1.78883452 |
| 148 | Testicular atrophy (HP:0000029) | 1.78753092 |
| 149 | Hepatoblastoma (HP:0002884) | 1.78058772 |
| 150 | Prolonged neonatal jaundice (HP:0006579) | 1.77402600 |
| 151 | Lipid accumulation in hepatocytes (HP:0006561) | 1.76802495 |
| 152 | Split foot (HP:0001839) | 1.76754015 |
| 153 | Renal tubular dysfunction (HP:0000124) | 1.76401795 |
| 154 | Hypercholesterolemia (HP:0003124) | 1.76253533 |
| 155 | Rectal fistula (HP:0100590) | 1.76218611 |
| 156 | Rectovaginal fistula (HP:0000143) | 1.76218611 |
| 157 | Increased muscle lipid content (HP:0009058) | 1.75640986 |
| 158 | Septo-optic dysplasia (HP:0100842) | 1.73825096 |
| 159 | Type 2 muscle fiber atrophy (HP:0003554) | 1.72098304 |
| 160 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 1.71548390 |
| 161 | Absent/shortened dynein arms (HP:0200106) | 1.71548390 |
| 162 | Ketoacidosis (HP:0001993) | 1.71335247 |
| 163 | Male pseudohermaphroditism (HP:0000037) | 1.70363273 |
| 164 | Abnormality of the heme biosynthetic pathway (HP:0010472) | 1.70202687 |
| 165 | Aplasia/Hypoplasia of the spleen (HP:0010451) | 1.68716443 |
| 166 | Sclerocornea (HP:0000647) | 1.68706916 |
| 167 | Cerebellar dysplasia (HP:0007033) | 1.67891388 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TLK1 | 4.75354601 |
| 2 | CASK | 4.45829550 |
| 3 | MKNK2 | 4.25087592 |
| 4 | AKT3 | 4.11303824 |
| 5 | VRK2 | 3.51637222 |
| 6 | BCKDK | 3.21065634 |
| 7 | SRPK1 | 3.19949190 |
| 8 | MKNK1 | 2.83688312 |
| 9 | NUAK1 | 2.79524860 |
| 10 | MAP4K2 | 2.53772138 |
| 11 | STK38L | 2.42968853 |
| 12 | BMPR1B | 2.34605720 |
| 13 | IRAK3 | 2.23684548 |
| 14 | PRPF4B | 2.21876604 |
| 15 | FRK | 2.14934491 |
| 16 | STK16 | 2.09197624 |
| 17 | WEE1 | 2.08784331 |
| 18 | TIE1 | 2.08014359 |
| 19 | CDK19 | 2.07231804 |
| 20 | EPHA2 | 2.03130970 |
| 21 | BUB1 | 2.02786323 |
| 22 | EIF2AK1 | 2.00722557 |
| 23 | TNIK | 1.87750689 |
| 24 | ZAK | 1.81315008 |
| 25 | FGFR2 | 1.79728432 |
| 26 | TAF1 | 1.76351683 |
| 27 | TRIM28 | 1.65927528 |
| 28 | KDR | 1.53085163 |
| 29 | MAP3K4 | 1.50022270 |
| 30 | EIF2AK3 | 1.48288544 |
| 31 | ERBB4 | 1.43329074 |
| 32 | PINK1 | 1.41481975 |
| 33 | EIF2AK2 | 1.37592349 |
| 34 | YES1 | 1.37078920 |
| 35 | TSSK6 | 1.34897710 |
| 36 | NME2 | 1.31112808 |
| 37 | PLK4 | 1.30675788 |
| 38 | TAOK3 | 1.28811891 |
| 39 | BRAF | 1.23898340 |
| 40 | TTK | 1.21441239 |
| 41 | WNK3 | 1.17688929 |
| 42 | KIT | 1.15009804 |
| 43 | MAPK15 | 1.11266703 |
| 44 | INSRR | 1.10799606 |
| 45 | SGK2 | 1.10617846 |
| 46 | VRK1 | 1.09910739 |
| 47 | STK38 | 1.09446256 |
| 48 | TEC | 1.08351637 |
| 49 | MAPKAPK5 | 1.06580601 |
| 50 | AURKA | 1.04605546 |
| 51 | PLK1 | 1.02456666 |
| 52 | IRAK2 | 0.98891876 |
| 53 | TNK2 | 0.97647600 |
| 54 | PBK | 0.97343735 |
| 55 | NEK6 | 0.94137421 |
| 56 | PASK | 0.91583648 |
| 57 | CDK7 | 0.90003040 |
| 58 | PLK3 | 0.89256361 |
| 59 | NLK | 0.86758207 |
| 60 | PRKD2 | 0.82532265 |
| 61 | SGK494 | 0.80737308 |
| 62 | SGK223 | 0.80737308 |
| 63 | IRAK1 | 0.80251507 |
| 64 | DYRK2 | 0.78626200 |
| 65 | MAPK11 | 0.78447113 |
| 66 | GRK1 | 0.78320977 |
| 67 | PIK3CA | 0.76579857 |
| 68 | BRSK2 | 0.75077884 |
| 69 | CSNK1G1 | 0.74716679 |
| 70 | RPS6KA5 | 0.72912023 |
| 71 | MAP2K4 | 0.72388069 |
| 72 | PRKCI | 0.71307747 |
| 73 | MAPK13 | 0.70661407 |
| 74 | MAP3K7 | 0.69478861 |
| 75 | CHEK2 | 0.69323610 |
| 76 | NEK2 | 0.67705000 |
| 77 | CLK1 | 0.67086621 |
| 78 | TESK2 | 0.64538548 |
| 79 | OXSR1 | 0.62024197 |
| 80 | PKN1 | 0.61111177 |
| 81 | CSNK2A1 | 0.59831787 |
| 82 | ATM | 0.58162326 |
| 83 | TGFBR1 | 0.57584736 |
| 84 | ACVR1B | 0.57091794 |
| 85 | BMPR2 | 0.55982286 |
| 86 | ADRBK2 | 0.55188965 |
| 87 | CAMK2G | 0.54727776 |
| 88 | CSNK2A2 | 0.53884856 |
| 89 | PRKCQ | 0.53285781 |
| 90 | PIM2 | 0.53033276 |
| 91 | MAP3K11 | 0.50712109 |
| 92 | ITK | 0.50280032 |
| 93 | TAOK2 | 0.50271417 |
| 94 | NEK1 | 0.50096710 |
| 95 | AURKB | 0.48750366 |
| 96 | DYRK1A | 0.48650159 |
| 97 | MAP2K6 | 0.48509891 |
| 98 | FGFR1 | 0.48465684 |
| 99 | NTRK2 | 0.48328193 |
| 100 | PRKCE | 0.47351664 |
| 101 | DYRK3 | 0.47329389 |
| 102 | LATS1 | 0.46880766 |
| 103 | BMX | 0.45566660 |
| 104 | OBSCN | 0.45113084 |
| 105 | MST4 | 0.44960097 |
| 106 | PNCK | 0.44546603 |
| 107 | CSNK1G2 | 0.43315801 |
| 108 | FLT3 | 0.43179591 |
| 109 | ADRBK1 | 0.42157903 |
| 110 | MATK | 0.39951694 |
| 111 | CAMK2B | 0.39748051 |
| 112 | IRAK4 | 0.39510005 |
| 113 | DAPK3 | 0.39110936 |
| 114 | DYRK1B | 0.37860106 |
| 115 | MAP2K7 | 0.37292426 |
| 116 | SGK3 | 0.36614326 |
| 117 | CSNK1G3 | 0.36467517 |
| 118 | PRKDC | 0.36452513 |
| 119 | CSNK1D | 0.35334008 |
| 120 | PIK3CG | 0.35294007 |
| 121 | PDK2 | 0.35258665 |
| 122 | DAPK2 | 0.35179916 |
| 123 | PRKCZ | 0.34778349 |
| 124 | CAMK1 | 0.34719542 |
| 125 | PRKCG | 0.33959919 |
| 126 | IKBKB | 0.33662523 |
| 127 | WNK4 | 0.33650515 |
| 128 | EPHA4 | 0.33588107 |
| 129 | PAK3 | 0.33255627 |
| 130 | PRKACG | 0.33034785 |
| 131 | CSNK1A1 | 0.32288824 |
| 132 | RPS6KB2 | 0.31946176 |
| 133 | MUSK | 0.31812611 |
| 134 | PRKCA | 0.31802589 |
| 135 | CDK3 | 0.30987363 |
| 136 | CDK2 | 0.30664062 |
| 137 | CSNK1E | 0.30351882 |
| 138 | CDK4 | 0.30083148 |
| 139 | CAMK4 | 0.28803781 |
| 140 | PRKAA2 | 0.28040890 |
| 141 | NME1 | 0.27871928 |
| 142 | MET | 0.27835428 |
| 143 | ATR | 0.27305270 |
| 144 | ERBB2 | 0.26581861 |
| 145 | CDC7 | 0.26576137 |
| 146 | PRKACA | 0.26317171 |
| 147 | MAP2K2 | 0.26241538 |
| 148 | GRK7 | 0.25842967 |
| 149 | MAPK7 | 0.25832455 |
| 150 | GSK3A | 0.24918581 |
| 151 | PIM1 | 0.23207779 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 3.48376078 |
| 2 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 2.69002362 |
| 3 | * Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 2.67275407 |
| 4 | Nitrogen metabolism_Homo sapiens_hsa00910 | 2.60103771 |
| 5 | Arginine biosynthesis_Homo sapiens_hsa00220 | 2.45974851 |
| 6 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 2.30375624 |
| 7 | * Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 2.30247392 |
| 8 | Tryptophan metabolism_Homo sapiens_hsa00380 | 2.10073311 |
| 9 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 2.08716529 |
| 10 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 2.08577297 |
| 11 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 2.04823741 |
| 12 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 2.02083135 |
| 13 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 2.00889755 |
| 14 | Peroxisome_Homo sapiens_hsa04146 | 1.96434787 |
| 15 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 1.95028218 |
| 16 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 1.88441282 |
| 17 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 1.86597203 |
| 18 | Folate biosynthesis_Homo sapiens_hsa00790 | 1.82334908 |
| 19 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.78751790 |
| 20 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 1.78635624 |
| 21 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 1.77774879 |
| 22 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.77509967 |
| 23 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 1.75095983 |
| 24 | Retinol metabolism_Homo sapiens_hsa00830 | 1.74183249 |
| 25 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.73580041 |
| 26 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.71590496 |
| 27 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.68418673 |
| 28 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 1.67287538 |
| 29 | Sulfur relay system_Homo sapiens_hsa04122 | 1.66442380 |
| 30 | * One carbon pool by folate_Homo sapiens_hsa00670 | 1.62991397 |
| 31 | Histidine metabolism_Homo sapiens_hsa00340 | 1.61366223 |
| 32 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 1.60909747 |
| 33 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.58506101 |
| 34 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.48795686 |
| 35 | Ribosome_Homo sapiens_hsa03010 | 1.44398123 |
| 36 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.43659171 |
| 37 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.40802015 |
| 38 | Tyrosine metabolism_Homo sapiens_hsa00350 | 1.38085328 |
| 39 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 1.36957705 |
| 40 | RNA polymerase_Homo sapiens_hsa03020 | 1.32992670 |
| 41 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 1.29872088 |
| 42 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 1.29734036 |
| 43 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.29671504 |
| 44 | DNA replication_Homo sapiens_hsa03030 | 1.27455647 |
| 45 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 1.27066349 |
| 46 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.26910285 |
| 47 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.26789590 |
| 48 | Mismatch repair_Homo sapiens_hsa03430 | 1.25738543 |
| 49 | Sulfur metabolism_Homo sapiens_hsa00920 | 1.21721532 |
| 50 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 1.16853950 |
| 51 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.13346851 |
| 52 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 1.09764962 |
| 53 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.09492529 |
| 54 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 1.08239700 |
| 55 | Homologous recombination_Homo sapiens_hsa03440 | 1.07760608 |
| 56 | Steroid biosynthesis_Homo sapiens_hsa00100 | 1.05937037 |
| 57 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.02922169 |
| 58 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.02311296 |
| 59 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.01734858 |
| 60 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.00435608 |
| 61 | RNA degradation_Homo sapiens_hsa03018 | 0.97585001 |
| 62 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.97561989 |
| 63 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.92476093 |
| 64 | * Carbon metabolism_Homo sapiens_hsa01200 | 0.92325308 |
| 65 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.90150063 |
| 66 | Bile secretion_Homo sapiens_hsa04976 | 0.88573722 |
| 67 | * Metabolic pathways_Homo sapiens_hsa01100 | 0.79633827 |
| 68 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.76009839 |
| 69 | Alzheimers disease_Homo sapiens_hsa05010 | 0.75192595 |
| 70 | Spliceosome_Homo sapiens_hsa03040 | 0.74746125 |
| 71 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.73412556 |
| 72 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.73324715 |
| 73 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.72993229 |
| 74 | Proteasome_Homo sapiens_hsa03050 | 0.72446035 |
| 75 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.71802426 |
| 76 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.68451283 |
| 77 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 0.67934716 |
| 78 | ABC transporters_Homo sapiens_hsa02010 | 0.66910219 |
| 79 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.65728479 |
| 80 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.64575715 |
| 81 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.63842878 |
| 82 | Base excision repair_Homo sapiens_hsa03410 | 0.62847075 |
| 83 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.62785997 |
| 84 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.62471473 |
| 85 | Purine metabolism_Homo sapiens_hsa00230 | 0.56463301 |
| 86 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.55621940 |
| 87 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.55600921 |
| 88 | Protein export_Homo sapiens_hsa03060 | 0.55438435 |
| 89 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 0.55374825 |
| 90 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.55133885 |
| 91 | Lysine degradation_Homo sapiens_hsa00310 | 0.54927249 |
| 92 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.54035483 |
| 93 | Basal transcription factors_Homo sapiens_hsa03022 | 0.52119740 |
| 94 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.51675793 |
| 95 | RNA transport_Homo sapiens_hsa03013 | 0.49427211 |
| 96 | Galactose metabolism_Homo sapiens_hsa00052 | 0.48141329 |
| 97 | Taste transduction_Homo sapiens_hsa04742 | 0.46833008 |
| 98 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.43901771 |
| 99 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.43683482 |
| 100 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.40830415 |
| 101 | Mineral absorption_Homo sapiens_hsa04978 | 0.40794581 |
| 102 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.39661379 |
| 103 | Huntingtons disease_Homo sapiens_hsa05016 | 0.39116708 |
| 104 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.38761801 |
| 105 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.38238191 |
| 106 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.34181260 |
| 107 | Phototransduction_Homo sapiens_hsa04744 | 0.29107242 |
| 108 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.29027291 |
| 109 | Parkinsons disease_Homo sapiens_hsa05012 | 0.27981165 |
| 110 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.25490847 |
| 111 | Prion diseases_Homo sapiens_hsa05020 | 0.23327721 |
| 112 | Thyroid cancer_Homo sapiens_hsa05216 | 0.21962660 |

