

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | protein neddylation (GO:0045116) | 5.44684600 |
| 2 | DNA deamination (GO:0045006) | 5.32290734 |
| 3 | regulation of mitochondrial translation (GO:0070129) | 4.54837948 |
| 4 | proteasome assembly (GO:0043248) | 4.53179698 |
| 5 | NADH metabolic process (GO:0006734) | 4.19628272 |
| 6 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 4.05031443 |
| 7 | oxidative phosphorylation (GO:0006119) | 4.03087898 |
| 8 | folic acid metabolic process (GO:0046655) | 4.02964309 |
| 9 | L-methionine salvage (GO:0071267) | 3.98471718 |
| 10 | L-methionine biosynthetic process (GO:0071265) | 3.98471718 |
| 11 | amino acid salvage (GO:0043102) | 3.98471718 |
| 12 | sarcoplasmic reticulum calcium ion transport (GO:0070296) | 3.94905813 |
| 13 | tricarboxylic acid cycle (GO:0006099) | 3.85930704 |
| 14 | erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221) | 3.85627427 |
| 15 | L-phenylalanine metabolic process (GO:0006558) | 3.85627427 |
| 16 | lysine metabolic process (GO:0006553) | 3.78387782 |
| 17 | lysine catabolic process (GO:0006554) | 3.78387782 |
| 18 | L-methionine biosynthetic process from methylthioadenosine (GO:0019509) | 3.77081924 |
| 19 | pyrimidine deoxyribonucleotide metabolic process (GO:0009219) | 3.72128481 |
| 20 | chaperone-mediated protein transport (GO:0072321) | 3.71308594 |
| 21 | branched-chain amino acid catabolic process (GO:0009083) | 3.69243008 |
| 22 | mitochondrial calcium ion transport (GO:0006851) | 3.65495511 |
| 23 | establishment of protein localization to mitochondrial membrane (GO:0090151) | 3.65164482 |
| 24 | ribosomal small subunit assembly (GO:0000028) | 3.63967750 |
| 25 | glycine metabolic process (GO:0006544) | 3.63274297 |
| 26 | purine nucleobase biosynthetic process (GO:0009113) | 3.62663337 |
| 27 | quinone biosynthetic process (GO:1901663) | 3.60739500 |
| 28 | ubiquinone biosynthetic process (GO:0006744) | 3.60739500 |
| 29 | cysteine metabolic process (GO:0006534) | 3.57416680 |
| 30 | energy coupled proton transport, down electrochemical gradient (GO:0015985) | 3.56178220 |
| 31 | ATP synthesis coupled proton transport (GO:0015986) | 3.56178220 |
| 32 | 2-deoxyribonucleotide biosynthetic process (GO:0009265) | 3.56014805 |
| 33 | deoxyribose phosphate biosynthetic process (GO:0046385) | 3.56014805 |
| 34 | positive regulation of mitochondrial calcium ion concentration (GO:0051561) | 3.54434802 |
| 35 | regulation of skeletal muscle contraction (GO:0014819) | 3.53884852 |
| 36 | serine family amino acid biosynthetic process (GO:0009070) | 3.52971031 |
| 37 | pyrimidine deoxyribonucleotide catabolic process (GO:0009223) | 3.50864897 |
| 38 | valine metabolic process (GO:0006573) | 3.48260953 |
| 39 | pantothenate metabolic process (GO:0015939) | 3.46412974 |
| 40 | purine-containing compound salvage (GO:0043101) | 3.46283310 |
| 41 | 2-oxoglutarate metabolic process (GO:0006103) | 3.45678889 |
| 42 | nucleobase biosynthetic process (GO:0046112) | 3.45287193 |
| 43 | mitochondrial calcium ion homeostasis (GO:0051560) | 3.45091058 |
| 44 | respiratory electron transport chain (GO:0022904) | 3.43312279 |
| 45 | protein deneddylation (GO:0000338) | 3.43250062 |
| 46 | branched-chain amino acid metabolic process (GO:0009081) | 3.42628345 |
| 47 | erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222) | 3.36928921 |
| 48 | L-phenylalanine catabolic process (GO:0006559) | 3.36928921 |
| 49 | cullin deneddylation (GO:0010388) | 3.36350289 |
| 50 | electron transport chain (GO:0022900) | 3.34621974 |
| 51 | fatty acid beta-oxidation (GO:0006635) | 3.32768521 |
| 52 | methionine metabolic process (GO:0006555) | 3.31714659 |
| 53 | serine family amino acid metabolic process (GO:0009069) | 3.31239276 |
| 54 | polyamine biosynthetic process (GO:0006596) | 3.30649737 |
| 55 | negative regulation of release of cytochrome c from mitochondria (GO:0090201) | 3.29387176 |
| 56 | regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510) | 3.29059055 |
| 57 | sulfur amino acid biosynthetic process (GO:0000097) | 3.25439042 |
| 58 | deoxyribonucleoside monophosphate metabolic process (GO:0009162) | 3.23946015 |
| 59 | serine family amino acid catabolic process (GO:0009071) | 3.23566808 |
| 60 | biotin metabolic process (GO:0006768) | 3.23481482 |
| 61 | nucleoside diphosphate biosynthetic process (GO:0009133) | 3.23449497 |
| 62 | actin-myosin filament sliding (GO:0033275) | 3.22429585 |
| 63 | muscle filament sliding (GO:0030049) | 3.22429585 |
| 64 | protein maturation by protein folding (GO:0022417) | 3.21288306 |
| 65 | maturation of SSU-rRNA (GO:0030490) | 3.21182971 |
| 66 | mitochondrial electron transport, NADH to ubiquinone (GO:0006120) | 3.20909775 |
| 67 | L-serine metabolic process (GO:0006563) | 3.18963772 |
| 68 | transcription from mitochondrial promoter (GO:0006390) | 3.18306528 |
| 69 | regulation of cellular amino acid metabolic process (GO:0006521) | 3.14222766 |
| 70 | amino-acid betaine metabolic process (GO:0006577) | 3.14003525 |
| 71 | S-adenosylmethionine metabolic process (GO:0046500) | 3.13827385 |
| 72 | iron-sulfur cluster assembly (GO:0016226) | 3.13628301 |
| 73 | metallo-sulfur cluster assembly (GO:0031163) | 3.13628301 |
| 74 | ribosomal large subunit biogenesis (GO:0042273) | 3.13166032 |
| 75 | protein complex biogenesis (GO:0070271) | 3.13133746 |
| 76 | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436) | 3.12731561 |
| 77 | protein targeting to mitochondrion (GO:0006626) | 3.12483196 |
| 78 | oxaloacetate metabolic process (GO:0006107) | 3.10594372 |
| 79 | nucleotide salvage (GO:0043173) | 3.10270482 |
| 80 | mitochondrial respiratory chain complex I biogenesis (GO:0097031) | 3.09724184 |
| 81 | mitochondrial respiratory chain complex I assembly (GO:0032981) | 3.09724184 |
| 82 | NADH dehydrogenase complex assembly (GO:0010257) | 3.09724184 |
| 83 | negative regulation of ligase activity (GO:0051352) | 3.09287054 |
| 84 | negative regulation of ubiquitin-protein transferase activity (GO:0051444) | 3.09287054 |
| 85 | regulation of oxidative phosphorylation (GO:0002082) | 3.08062764 |
| 86 | mitochondrial respiratory chain complex assembly (GO:0033108) | 3.07325844 |
| 87 | polyamine metabolic process (GO:0006595) | 3.06520422 |
| 88 | AMP metabolic process (GO:0046033) | 3.06093423 |
| 89 | methionine biosynthetic process (GO:0009086) | 3.05627285 |
| 90 | succinate metabolic process (GO:0006105) | 3.04734831 |
| 91 | regulation of acyl-CoA biosynthetic process (GO:0050812) | 3.04427496 |
| 92 | aromatic amino acid family catabolic process (GO:0009074) | 3.04412070 |
| 93 | ribosome assembly (GO:0042255) | 3.03666180 |
| 94 | negative regulation of phosphoprotein phosphatase activity (GO:0032515) | 3.02926894 |
| 95 | transcription elongation from RNA polymerase III promoter (GO:0006385) | 3.02922680 |
| 96 | termination of RNA polymerase III transcription (GO:0006386) | 3.02922680 |
| 97 | neutrophil activation involved in immune response (GO:0002283) | 3.02139817 |
| 98 | heart process (GO:0003015) | 3.02066403 |
| 99 | heart contraction (GO:0060047) | 3.02066403 |
| 100 | negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315) | 3.02055568 |
| 101 | skeletal muscle contraction (GO:0003009) | 3.01705032 |
| 102 | purine nucleotide salvage (GO:0032261) | 3.01444184 |
| 103 | fatty acid oxidation (GO:0019395) | 3.00603480 |
| 104 | fatty acid catabolic process (GO:0009062) | 3.00495193 |
| 105 | peptidyl-histidine modification (GO:0018202) | 2.99462532 |
| 106 | mitochondrial transport (GO:0006839) | 2.99298884 |
| 107 | establishment of protein localization to mitochondrion (GO:0072655) | 2.98222065 |
| 108 | positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437) | 2.97326481 |
| 109 | respiratory chain complex IV assembly (GO:0008535) | 2.96288680 |
| 110 | aspartate family amino acid metabolic process (GO:0009066) | 2.95948833 |
| 111 | negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471) | 2.95911463 |
| 112 | tricarboxylic acid metabolic process (GO:0072350) | 2.95399122 |
| 113 | GDP-mannose metabolic process (GO:0019673) | 2.95073177 |
| 114 | ubiquinone metabolic process (GO:0006743) | 2.94947390 |
| 115 | glyoxylate metabolic process (GO:0046487) | 2.94072718 |
| 116 | protein localization to mitochondrion (GO:0070585) | 2.93561035 |
| 117 | cellular ketone body metabolic process (GO:0046950) | 2.93267847 |
| 118 | lipid oxidation (GO:0034440) | 2.92976888 |
| 119 | sulfur amino acid metabolic process (GO:0000096) | 2.92904067 |
| 120 | cellular metabolic compound salvage (GO:0043094) | 2.92370421 |
| 121 | positive regulation of ubiquitin-protein transferase activity (GO:0051443) | 2.92228508 |
| 122 | IMP metabolic process (GO:0046040) | 2.91745464 |
| 123 | deoxyribonucleotide biosynthetic process (GO:0009263) | 2.91593696 |
| 124 | tryptophan catabolic process (GO:0006569) | 2.90595435 |
| 125 | indole-containing compound catabolic process (GO:0042436) | 2.90595435 |
| 126 | indolalkylamine catabolic process (GO:0046218) | 2.90595435 |
| 127 | regulation of cofactor metabolic process (GO:0051193) | 2.90394536 |
| 128 | regulation of coenzyme metabolic process (GO:0051196) | 2.90394536 |
| 129 | translational termination (GO:0006415) | 2.88915475 |
| 130 | aerobic respiration (GO:0009060) | 2.88234016 |
| 131 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) | 2.87541763 |
| 132 | folic acid transport (GO:0015884) | 2.85923586 |
| 133 | cellular response to arsenic-containing substance (GO:0071243) | 2.84503576 |
| 134 | IMP biosynthetic process (GO:0006188) | 2.84457779 |
| 135 | positive regulation of ligase activity (GO:0051351) | 2.82217043 |
| 136 | kynurenine metabolic process (GO:0070189) | 2.82046159 |
| 137 | viral transcription (GO:0019083) | 2.81996356 |
| 138 | regulation of cellular respiration (GO:0043457) | 2.80519243 |
| 139 | inner mitochondrial membrane organization (GO:0007007) | 2.80483306 |
| 140 | pyrimidine nucleotide catabolic process (GO:0006244) | 2.79798123 |
| 141 | positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316) | 2.79560955 |
| 142 | pseudouridine synthesis (GO:0001522) | 2.79055904 |
| 143 | cellular component biogenesis (GO:0044085) | 2.78045149 |
| 144 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0 | 2.77674103 |
| 145 | sulfur amino acid catabolic process (GO:0000098) | 2.77626630 |
| 146 | deoxyribonucleoside triphosphate metabolic process (GO:0009200) | 2.73967836 |
| 147 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO: | 2.72265566 |
| 148 | antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590) | 2.71887725 |
| 149 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00 | 2.70072483 |
| 150 | deoxyribonucleotide catabolic process (GO:0009264) | 2.68890820 |
| 151 | deoxyribose phosphate catabolic process (GO:0046386) | 2.68849157 |
| 152 | regulation of ubiquitin-protein transferase activity (GO:0051438) | 2.63128772 |
| 153 | intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400) | 2.63089425 |
| 154 | signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431) | 2.63089425 |
| 155 | de novo protein folding (GO:0006458) | 2.62521086 |
| 156 | rRNA modification (GO:0000154) | 2.62035118 |
| 157 | deoxyribose phosphate metabolic process (GO:0019692) | 2.59379987 |
| 158 | signal transduction involved in mitotic DNA damage checkpoint (GO:1902402) | 2.59343115 |
| 159 | signal transduction involved in mitotic cell cycle checkpoint (GO:0072413) | 2.59343115 |
| 160 | signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403) | 2.59343115 |
| 161 | glycosphingolipid catabolic process (GO:0046479) | 2.59172521 |
| 162 | regulation of ligase activity (GO:0051340) | 2.55974150 |
| 163 | nucleobase-containing small molecule interconversion (GO:0015949) | 2.55746072 |
| 164 | tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) | 2.55032374 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 4.47918093 |
| 2 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 4.19269655 |
| 3 | * EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 4.11223632 |
| 4 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 4.09087062 |
| 5 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 3.80558336 |
| 6 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 3.68837080 |
| 7 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 3.59584538 |
| 8 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 3.57582218 |
| 9 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 3.54295485 |
| 10 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 3.23441463 |
| 11 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 3.04307095 |
| 12 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 2.98683362 |
| 13 | * MYC_18358816_ChIP-ChIP_MESCs_Mouse | 2.95241880 |
| 14 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 2.94246596 |
| 15 | RXR_22158963_ChIP-Seq_LIVER_Mouse | 2.79017317 |
| 16 | PPARA_22158963_ChIP-Seq_LIVER_Mouse | 2.57120574 |
| 17 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 2.43407614 |
| 18 | CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 2.42385171 |
| 19 | EGR1_23403033_ChIP-Seq_LIVER_Mouse | 2.35867888 |
| 20 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 2.35415460 |
| 21 | VDR_23849224_ChIP-Seq_CD4+_Human | 2.35090613 |
| 22 | * SRF_21415370_ChIP-Seq_HL-1_Mouse | 2.35028635 |
| 23 | E2F1_18555785_ChIP-Seq_MESCs_Mouse | 2.29473520 |
| 24 | DCP1A_22483619_ChIP-Seq_HELA_Human | 2.27247885 |
| 25 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 2.17450606 |
| 26 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 2.15315257 |
| 27 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 2.14545577 |
| 28 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 2.12159344 |
| 29 | E2F7_22180533_ChIP-Seq_HELA_Human | 2.06859556 |
| 30 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 2.03777687 |
| 31 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 2.03216762 |
| 32 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 2.00677763 |
| 33 | GABP_19822575_ChIP-Seq_HepG2_Human | 1.99534015 |
| 34 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 1.98590863 |
| 35 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.89490958 |
| 36 | FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 1.88953788 |
| 37 | XRN2_22483619_ChIP-Seq_HELA_Human | 1.88467779 |
| 38 | FOXP3_21729870_ChIP-Seq_TREG_Human | 1.82182788 |
| 39 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 1.82053893 |
| 40 | * ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.79955139 |
| 41 | TFEB_21752829_ChIP-Seq_HELA_Human | 1.78381148 |
| 42 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 1.78213526 |
| 43 | SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse | 1.77494972 |
| 44 | * ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 1.73710278 |
| 45 | FLI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.69207068 |
| 46 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.67561758 |
| 47 | HNF4A_19761587_ChIP-ChIP_CACO-2_Human | 1.66574541 |
| 48 | * TAL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.61365284 |
| 49 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 1.59929540 |
| 50 | IRF8_21731497_ChIP-ChIP_J774_Mouse | 1.58898160 |
| 51 | SPI1_22096565_ChIP-ChIP_GC-B_Mouse | 1.58838121 |
| 52 | NOTCH1_21737748_ChIP-Seq_TLL_Human | 1.58119160 |
| 53 | CEBPB_24764292_ChIP-Seq_MC3T3_Mouse | 1.54671980 |
| 54 | LXR_22158963_ChIP-Seq_LIVER_Mouse | 1.54255211 |
| 55 | ZNF263_19887448_ChIP-Seq_K562_Human | 1.53170094 |
| 56 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 1.51216974 |
| 57 | HOXB4_20404135_ChIP-ChIP_EML_Mouse | 1.50494938 |
| 58 | ERG_20887958_ChIP-Seq_HPC-7_Mouse | 1.48759393 |
| 59 | IRF8_22096565_ChIP-ChIP_GC-B_Mouse | 1.44995204 |
| 60 | FOXO1_23066095_ChIP-Seq_LIVER_Mouse | 1.43188769 |
| 61 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.42582185 |
| 62 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 1.40846939 |
| 63 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.38681613 |
| 64 | GATA1_22025678_ChIP-Seq_K562_Human | 1.37763522 |
| 65 | BCL3_23251550_ChIP-Seq_MUSCLE_Mouse | 1.34238232 |
| 66 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 1.30758574 |
| 67 | LYL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.29517303 |
| 68 | * STAT4_19710469_ChIP-ChIP_TH1__Mouse | 1.28161814 |
| 69 | SFPI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.27180944 |
| 70 | SPI1_23547873_ChIP-Seq_NB4_Human | 1.27051956 |
| 71 | * ELK1_19687146_ChIP-ChIP_HELA_Human | 1.26711147 |
| 72 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 1.26540498 |
| 73 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.26025701 |
| 74 | ELK1_22589737_ChIP-Seq_MCF10A_Human | 1.22825460 |
| 75 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.18266514 |
| 76 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 1.17632286 |
| 77 | * CNOT3_19339689_ChIP-ChIP_MESCs_Mouse | 1.15121991 |
| 78 | STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse | 1.13923981 |
| 79 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.11865030 |
| 80 | SREBP1_19666523_ChIP-Seq_LIVER_Mouse | 1.07786925 |
| 81 | CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human | 1.06770374 |
| 82 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.05933757 |
| 83 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.05414556 |
| 84 | * CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 1.04635773 |
| 85 | CTCF_18555785_ChIP-Seq_MESCs_Mouse | 1.04033249 |
| 86 | RUNX1_20887958_ChIP-Seq_HPC-7_Mouse | 1.02571636 |
| 87 | NANOG_18555785_ChIP-Seq_MESCs_Mouse | 1.01642771 |
| 88 | * TBX5_21415370_ChIP-Seq_HL-1_Mouse | 1.00863898 |
| 89 | PRDM5_23873026_ChIP-Seq_MEFs_Mouse | 1.00655527 |
| 90 | YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 0.98314155 |
| 91 | SIN3A_21632747_ChIP-Seq_MESCs_Mouse | 0.98085846 |
| 92 | KLF4_18555785_ChIP-Seq_MESCs_Mouse | 0.97415642 |
| 93 | * TRIM28_19339689_ChIP-ChIP_MESCs_Mouse | 0.95195972 |
| 94 | KDM5A_27292631_Chip-Seq_BREAST_Human | 0.94255435 |
| 95 | MECOM_23826213_ChIP-Seq_KASUMI_Mouse | 0.94244169 |
| 96 | HTT_18923047_ChIP-ChIP_STHdh_Human | 0.94126128 |
| 97 | CIITA_25753668_ChIP-Seq_RAJI_Human | 0.92709634 |
| 98 | MYB_21317192_ChIP-Seq_ERMYB_Mouse | 0.92571086 |
| 99 | ATF3_23680149_ChIP-Seq_GBM1-GSC_Human | 0.90775431 |
| 100 | MEIS1_20887958_ChIP-Seq_HPC-7_Mouse | 0.90134421 |
| 101 | NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse | 0.89789768 |
| 102 | SRY_22984422_ChIP-ChIP_TESTIS_Rat | 0.89567424 |
| 103 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 0.89379103 |
| 104 | LMO2_20887958_ChIP-Seq_HPC-7_Mouse | 0.89286166 |
| 105 | * POU5F1_18358816_ChIP-ChIP_MESCs_Mouse | 0.89045754 |
| 106 | GATA2_22383799_ChIP-Seq_G1ME_Mouse | 0.88681137 |
| 107 | FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 0.87707731 |
| 108 | NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human | 0.87597049 |
| 109 | * GFI1B_20887958_ChIP-Seq_HPC-7_Mouse | 0.86785338 |
| 110 | E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human | 0.86472213 |
| 111 | CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse | 0.85938462 |
| 112 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 0.84758280 |
| 113 | CLOCK_20551151_ChIP-Seq_293T_Human | 0.84131300 |
| 114 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 0.83520314 |
| 115 | PADI4_21655091_ChIP-ChIP_MCF-7_Human | 0.82871396 |
| 116 | * PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 0.82634418 |
| 117 | DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 0.79754682 |
| 118 | GATA1_22383799_ChIP-Seq_G1ME_Mouse | 0.79333464 |
| 119 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 0.77466347 |
| 120 | * ASXL1_24218140_ChIP-Seq_BMDM_Mouse | 0.76503298 |
| 121 | ASH2L_23239880_ChIP-Seq_MESCs_Mouse | 0.76330085 |
| 122 | SREBP2_21459322_ChIP-Seq_LIVER_Mouse | 0.75943116 |
| 123 | * GATA4_21415370_ChIP-Seq_HL-1_Mouse | 0.75941032 |
| 124 | NKX2-5_21415370_ChIP-Seq_HL-1_Mouse | 0.75552286 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0002139_abnormal_hepatobiliary_system | 4.75123661 |
| 2 | MP0005360_urolithiasis | 4.44827286 |
| 3 | MP0003806_abnormal_nucleotide_metabolis | 4.16954723 |
| 4 | MP0005085_abnormal_gallbladder_physiolo | 3.82908220 |
| 5 | MP0005365_abnormal_bile_salt | 3.70806298 |
| 6 | MP0005058_abnormal_lysosome_morphology | 3.41657655 |
| 7 | MP0003646_muscle_fatigue | 3.25046387 |
| 8 | MP0003195_calcinosis | 3.09872170 |
| 9 | MP0006036_abnormal_mitochondrial_physio | 3.00198212 |
| 10 | MP0009840_abnormal_foam_cell | 2.92158427 |
| 11 | MP0008875_abnormal_xenobiotic_pharmacok | 2.88238770 |
| 12 | MP0005464_abnormal_platelet_physiology | 2.76554973 |
| 13 | MP0003693_abnormal_embryo_hatching | 2.63239848 |
| 14 | MP0005332_abnormal_amino_acid | 2.56497816 |
| 15 | MP0003186_abnormal_redox_activity | 2.42530724 |
| 16 | MP0004510_myositis | 2.38773380 |
| 17 | MP0006035_abnormal_mitochondrial_morpho | 2.34090162 |
| 18 | MP0002332_abnormal_exercise_endurance | 2.31086807 |
| 19 | MP0002148_abnormal_hypersensitivity_rea | 2.30661211 |
| 20 | MP0003303_peritoneal_inflammation | 2.17566411 |
| 21 | MP0010329_abnormal_lipoprotein_level | 2.07036739 |
| 22 | MP0001764_abnormal_homeostasis | 1.99546038 |
| 23 | MP0009379_abnormal_foot_pigmentation | 1.98727329 |
| 24 | MP0002837_dystrophic_cardiac_calcinosis | 1.97742473 |
| 25 | MP0004215_abnormal_myocardial_fiber | 1.96734569 |
| 26 | MP0003656_abnormal_erythrocyte_physiolo | 1.96733704 |
| 27 | MP0005319_abnormal_enzyme/_coenzyme | 1.92520206 |
| 28 | MP0003718_maternal_effect | 1.91900159 |
| 29 | MP0000749_muscle_degeneration | 1.76209658 |
| 30 | MP0004147_increased_porphyrin_level | 1.75392371 |
| 31 | MP0004233_abnormal_muscle_weight | 1.74164745 |
| 32 | MP0000372_irregular_coat_pigmentation | 1.72335350 |
| 33 | MP0005330_cardiomyopathy | 1.71064067 |
| 34 | MP0004957_abnormal_blastocyst_morpholog | 1.68096205 |
| 35 | MP0001666_abnormal_nutrient_absorption | 1.64208128 |
| 36 | MP0004019_abnormal_vitamin_homeostasis | 1.64158773 |
| 37 | MP0005584_abnormal_enzyme/coenzyme_acti | 1.56690754 |
| 38 | MP0001835_abnormal_antigen_presentation | 1.56494272 |
| 39 | MP0000609_abnormal_liver_physiology | 1.53922896 |
| 40 | MP0002396_abnormal_hematopoietic_system | 1.53260877 |
| 41 | MP0002877_abnormal_melanocyte_morpholog | 1.51353292 |
| 42 | MP0005636_abnormal_mineral_homeostasis | 1.51165891 |
| 43 | MP0003221_abnormal_cardiomyocyte_apopto | 1.50879046 |
| 44 | MP0004130_abnormal_muscle_cell | 1.50462533 |
| 45 | MP0005671_abnormal_response_to | 1.47445257 |
| 46 | MP0005670_abnormal_white_adipose | 1.47432653 |
| 47 | MP0009333_abnormal_splenocyte_physiolog | 1.46695838 |
| 48 | MP0004084_abnormal_cardiac_muscle | 1.44806255 |
| 49 | MP0009643_abnormal_urine_homeostasis | 1.43477970 |
| 50 | MP0000759_abnormal_skeletal_muscle | 1.42509576 |
| 51 | MP0005083_abnormal_biliary_tract | 1.41776036 |
| 52 | MP0002118_abnormal_lipid_homeostasis | 1.40140794 |
| 53 | MP0005167_abnormal_blood-brain_barrier | 1.39978671 |
| 54 | MP0009697_abnormal_copulation | 1.39888028 |
| 55 | MP0002972_abnormal_cardiac_muscle | 1.36001507 |
| 56 | MP0003252_abnormal_bile_duct | 1.35563945 |
| 57 | MP0003191_abnormal_cellular_cholesterol | 1.31629358 |
| 58 | MP0001853_heart_inflammation | 1.26094150 |
| 59 | MP0002138_abnormal_hepatobiliary_system | 1.22540867 |
| 60 | MP0002269_muscular_atrophy | 1.22287246 |
| 61 | MP0005451_abnormal_body_composition | 1.21250594 |
| 62 | MP0003075_altered_response_to | 1.20444154 |
| 63 | MP0005084_abnormal_gallbladder_morpholo | 1.19452058 |
| 64 | MP0005000_abnormal_immune_tolerance | 1.19383216 |
| 65 | MP0006082_CNS_inflammation | 1.17573630 |
| 66 | MP0000747_muscle_weakness | 1.17041351 |
| 67 | MP0001727_abnormal_embryo_implantation | 1.16364808 |
| 68 | MP0008260_abnormal_autophagy | 1.16207300 |
| 69 | MP0003868_abnormal_feces_composition | 1.12045213 |
| 70 | MP0004036_abnormal_muscle_relaxation | 1.11325119 |
| 71 | MP0005666_abnormal_adipose_tissue | 1.09685468 |
| 72 | MP0001790_abnormal_immune_system | 1.08975134 |
| 73 | MP0005387_immune_system_phenotype | 1.08975134 |
| 74 | MP0003111_abnormal_nucleus_morphology | 1.08615899 |
| 75 | MP0002090_abnormal_vision | 1.08519575 |
| 76 | MP0005165_increased_susceptibility_to | 1.05530976 |
| 77 | MP0000751_myopathy | 1.05286616 |
| 78 | MP0000750_abnormal_muscle_regeneration | 1.04942856 |
| 79 | MP0005266_abnormal_metabolism | 1.04689756 |
| 80 | MP0008469_abnormal_protein_level | 1.03808398 |
| 81 | MP0000490_abnormal_crypts_of | 1.03438707 |
| 82 | MP0001661_extended_life_span | 1.02239015 |
| 83 | MP0002971_abnormal_brown_adipose | 1.01868715 |
| 84 | MP0000358_abnormal_cell_content/ | 1.01827449 |
| 85 | MP0001529_abnormal_vocalization | 1.01154038 |
| 86 | MP0002876_abnormal_thyroid_physiology | 0.99189626 |
| 87 | MP0000598_abnormal_liver_morphology | 0.98878868 |
| 88 | MP0005397_hematopoietic_system_phenotyp | 0.98757594 |
| 89 | MP0001545_abnormal_hematopoietic_system | 0.98757594 |
| 90 | MP0002452_abnormal_antigen_presenting | 0.98550692 |
| 91 | MP0003724_increased_susceptibility_to | 0.98485188 |
| 92 | MP0001756_abnormal_urination | 0.96764791 |
| 93 | MP0005220_abnormal_exocrine_pancreas | 0.95386603 |
| 94 | MP0005166_decreased_susceptibility_to | 0.94869684 |
| 95 | MP0002419_abnormal_innate_immunity | 0.93755002 |
| 96 | MP0008007_abnormal_cellular_replicative | 0.93734073 |
| 97 | MP0002723_abnormal_immune_serum | 0.93449324 |
| 98 | MP0000685_abnormal_immune_system | 0.92982596 |
| 99 | MP0003436_decreased_susceptibility_to | 0.92538331 |
| 100 | MP0003879_abnormal_hair_cell | 0.91968574 |
| 101 | MP0005369_muscle_phenotype | 0.91361506 |
| 102 | MP0008058_abnormal_DNA_repair | 0.90754879 |
| 103 | MP0006054_spinal_hemorrhage | 0.90670277 |
| 104 | MP0010094_abnormal_chromosome_stability | 0.89460005 |
| 105 | MP0003077_abnormal_cell_cycle | 0.87029425 |
| 106 | MP0008775_abnormal_heart_ventricle | 0.86331674 |
| 107 | MP0005647_abnormal_sex_gland | 0.85981530 |
| 108 | MP0008874_decreased_physiological_sensi | 0.85563657 |
| 109 | MP0001845_abnormal_inflammatory_respons | 0.85210100 |
| 110 | MP0009763_increased_sensitivity_to | 0.82352456 |
| 111 | MP0005376_homeostasis/metabolism_phenot | 0.80433125 |
| 112 | MP0005410_abnormal_fertilization | 0.80342633 |
| 113 | MP0002106_abnormal_muscle_physiology | 0.80149927 |
| 114 | MP0001800_abnormal_humoral_immune | 0.80025257 |
| 115 | MP0009046_muscle_twitch | 0.79926635 |
| 116 | MP0001905_abnormal_dopamine_level | 0.79834834 |
| 117 | MP0009642_abnormal_blood_homeostasis | 0.79586742 |
| 118 | MP0003786_premature_aging | 0.78962731 |
| 119 | MP0005535_abnormal_body_temperature | 0.78435153 |
| 120 | MP0005620_abnormal_muscle_contractility | 0.78413151 |
| 121 | MP0005025_abnormal_response_to | 0.77617139 |
| 122 | MP0002078_abnormal_glucose_homeostasis | 0.77596911 |
| 123 | MP0009764_decreased_sensitivity_to | 0.77457720 |
| 124 | MP0005385_cardiovascular_system_phenoty | 0.76900487 |
| 125 | MP0001544_abnormal_cardiovascular_syste | 0.76900487 |
| 126 | MP0004145_abnormal_muscle_electrophysio | 0.76796135 |
| 127 | MP0000465_gastrointestinal_hemorrhage | 0.76110871 |
| 128 | MP0008004_abnormal_stomach_pH | 0.75162393 |
| 129 | MP0000313_abnormal_cell_death | 0.74418994 |
| 130 | MP0003137_abnormal_impulse_conducting | 0.72908090 |
| 131 | MP0004087_abnormal_muscle_fiber | 0.72499095 |
| 132 | MP0002420_abnormal_adaptive_immunity | 0.71804681 |
| 133 | MP0003567_abnormal_fetal_cardiomyocyte | 0.70385845 |
| 134 | MP0009785_altered_susceptibility_to | 0.69975441 |
| 135 | MP0001819_abnormal_immune_cell | 0.69907055 |
| 136 | MP0001542_abnormal_bone_strength | 0.69430169 |
| 137 | MP0000343_altered_response_to | 0.68737051 |
| 138 | MP0005395_other_phenotype | 0.68275203 |
| 139 | MP0002132_abnormal_respiratory_system | 0.68271457 |
| 140 | MP0005334_abnormal_fat_pad | 0.64533484 |
| 141 | MP0002970_abnormal_white_adipose | 0.61927700 |
| 142 | MP0000013_abnormal_adipose_tissue | 0.61260317 |
| 143 | MP0000230_abnormal_systemic_arterial | 0.61104693 |
| 144 | MP0008932_abnormal_embryonic_tissue | 0.60749299 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Hepatic necrosis (HP:0002605) | 4.52443354 |
| 2 | Exercise-induced muscle cramps (HP:0003710) | 4.25142780 |
| 3 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 4.12355176 |
| 4 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 4.12355176 |
| 5 | Hepatocellular necrosis (HP:0001404) | 4.05440066 |
| 6 | Abnormality of aromatic amino acid family metabolism (HP:0004338) | 3.94419772 |
| 7 | Abnormality of dicarboxylic acid metabolism (HP:0010995) | 3.89759532 |
| 8 | Dicarboxylic aciduria (HP:0003215) | 3.89759532 |
| 9 | Abnormality of fatty-acid metabolism (HP:0004359) | 3.85988873 |
| 10 | Hyperglycinuria (HP:0003108) | 3.84065992 |
| 11 | Hyperglycinemia (HP:0002154) | 3.82844029 |
| 12 | * Abnormality of alanine metabolism (HP:0010916) | 3.77714042 |
| 13 | * Hyperalaninemia (HP:0003348) | 3.77714042 |
| 14 | * Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 3.77714042 |
| 15 | Increased muscle lipid content (HP:0009058) | 3.73293256 |
| 16 | Increased intramyocellular lipid droplets (HP:0012240) | 3.61825878 |
| 17 | Exercise-induced myalgia (HP:0003738) | 3.58631375 |
| 18 | Hypoglycemic coma (HP:0001325) | 3.57621822 |
| 19 | Abnormality of glycine metabolism (HP:0010895) | 3.52448681 |
| 20 | Abnormality of serine family amino acid metabolism (HP:0010894) | 3.52448681 |
| 21 | * Lactic acidosis (HP:0003128) | 3.51543845 |
| 22 | Abnormal mitochondria in muscle tissue (HP:0008316) | 3.49157624 |
| 23 | Increased CSF lactate (HP:0002490) | 3.47534880 |
| 24 | Mitochondrial inheritance (HP:0001427) | 3.44057725 |
| 25 | * Abnormality of serum amino acid levels (HP:0003112) | 3.39946950 |
| 26 | Cerebral edema (HP:0002181) | 3.37824315 |
| 27 | * Increased serum lactate (HP:0002151) | 3.32829179 |
| 28 | Acute encephalopathy (HP:0006846) | 3.32351074 |
| 29 | Generalized aminoaciduria (HP:0002909) | 3.30438977 |
| 30 | Lethargy (HP:0001254) | 3.28770372 |
| 31 | Acute necrotizing encephalopathy (HP:0006965) | 3.25802839 |
| 32 | * Hyperammonemia (HP:0001987) | 3.25649516 |
| 33 | Lipid accumulation in hepatocytes (HP:0006561) | 3.20218467 |
| 34 | Paralysis (HP:0003470) | 3.20063609 |
| 35 | Abnormality of long-chain fatty-acid metabolism (HP:0010964) | 3.18646432 |
| 36 | Ketosis (HP:0001946) | 3.07695504 |
| 37 | Abnormality of glycolipid metabolism (HP:0010969) | 3.05950284 |
| 38 | Abnormality of liposaccharide metabolism (HP:0010968) | 3.05950284 |
| 39 | Abnormality of glycosphingolipid metabolism (HP:0004343) | 3.05950284 |
| 40 | Proximal tubulopathy (HP:0000114) | 3.02380782 |
| 41 | Progressive muscle weakness (HP:0003323) | 2.99509306 |
| 42 | Nausea (HP:0002018) | 2.96509767 |
| 43 | Increased hepatocellular lipid droplets (HP:0006565) | 2.93710656 |
| 44 | Petechiae (HP:0000967) | 2.92212092 |
| 45 | Ketoacidosis (HP:0001993) | 2.89139265 |
| 46 | Rimmed vacuoles (HP:0003805) | 2.88085478 |
| 47 | Abnormality of lateral ventricle (HP:0030047) | 2.87629706 |
| 48 | Gout (HP:0001997) | 2.85843154 |
| 49 | Myoglobinuria (HP:0002913) | 2.84814373 |
| 50 | Rhabdomyolysis (HP:0003201) | 2.83746962 |
| 51 | Type 1 muscle fiber predominance (HP:0003803) | 2.82166568 |
| 52 | CNS demyelination (HP:0007305) | 2.82034796 |
| 53 | Abnormality of glycolysis (HP:0004366) | 2.74283933 |
| 54 | Increased serum pyruvate (HP:0003542) | 2.74283933 |
| 55 | Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688) | 2.71540080 |
| 56 | Methylmalonic aciduria (HP:0012120) | 2.68913218 |
| 57 | Reduced antithrombin III activity (HP:0001976) | 2.67902432 |
| 58 | Metabolic acidosis (HP:0001942) | 2.67816096 |
| 59 | Exercise intolerance (HP:0003546) | 2.67111105 |
| 60 | Purpura (HP:0000979) | 2.63971615 |
| 61 | Ragged-red muscle fibers (HP:0003200) | 2.61830995 |
| 62 | Glycosuria (HP:0003076) | 2.60621997 |
| 63 | Abnormality of urine glucose concentration (HP:0011016) | 2.60621997 |
| 64 | Hypobetalipoproteinemia (HP:0003563) | 2.60523751 |
| 65 | Abnormality of monocarboxylic acid metabolism (HP:0010996) | 2.57533633 |
| 66 | Intrahepatic cholestasis (HP:0001406) | 2.57307189 |
| 67 | Type I transferrin isoform profile (HP:0003642) | 2.55891167 |
| 68 | Progressive macrocephaly (HP:0004481) | 2.52080535 |
| 69 | EMG: myopathic abnormalities (HP:0003458) | 2.51615471 |
| 70 | Vacuolated lymphocytes (HP:0001922) | 2.50918816 |
| 71 | Hyperlipoproteinemia (HP:0010980) | 2.50650894 |
| 72 | Xanthomatosis (HP:0000991) | 2.48630517 |
| 73 | Respiratory failure (HP:0002878) | 2.47129613 |
| 74 | Abnormality of aspartate family amino acid metabolism (HP:0010899) | 2.42680670 |
| 75 | Prolonged partial thromboplastin time (HP:0003645) | 2.42579366 |
| 76 | Oral leukoplakia (HP:0002745) | 2.42208457 |
| 77 | Abnormality of the anterior horn cell (HP:0006802) | 2.38736635 |
| 78 | Degeneration of anterior horn cells (HP:0002398) | 2.38736635 |
| 79 | Muscle abnormality related to mitochondrial dysfunction (HP:0003800) | 2.35619800 |
| 80 | Abnormality of cells of the erythroid lineage (HP:0012130) | 2.35355455 |
| 81 | Megaloblastic anemia (HP:0001889) | 2.34536370 |
| 82 | Distal arthrogryposis (HP:0005684) | 2.33871064 |
| 83 | Renal Fanconi syndrome (HP:0001994) | 2.33817283 |
| 84 | Abnormal number of erythroid precursors (HP:0012131) | 2.31544508 |
| 85 | Muscle fiber splitting (HP:0003555) | 2.31145128 |
| 86 | Type 2 muscle fiber atrophy (HP:0003554) | 2.30942708 |
| 87 | Muscle hypertrophy of the lower extremities (HP:0008968) | 2.30018920 |
| 88 | Vomiting (HP:0002013) | 2.28185627 |
| 89 | Multiple enchondromatosis (HP:0005701) | 2.27679323 |
| 90 | Hypolipoproteinemia (HP:0010981) | 2.24696094 |
| 91 | Delayed CNS myelination (HP:0002188) | 2.23923128 |
| 92 | Hepatosplenomegaly (HP:0001433) | 2.23297398 |
| 93 | Abnormality of methionine metabolism (HP:0010901) | 2.22801257 |
| 94 | Muscle fiber atrophy (HP:0100295) | 2.22624186 |
| 95 | Palpitations (HP:0001962) | 2.21274237 |
| 96 | Hyperuricemia (HP:0002149) | 2.21028652 |
| 97 | Increased purine levels (HP:0004368) | 2.21028652 |
| 98 | Prolonged bleeding time (HP:0003010) | 2.17559151 |
| 99 | Abnormal protein glycosylation (HP:0012346) | 2.17524562 |
| 100 | Abnormal glycosylation (HP:0012345) | 2.17524562 |
| 101 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 2.17524562 |
| 102 | Abnormal protein N-linked glycosylation (HP:0012347) | 2.17524562 |
| 103 | Neck muscle weakness (HP:0000467) | 2.11815331 |
| 104 | Hypoalphalipoproteinemia (HP:0003233) | 2.10536204 |
| 105 | Primitive reflexes (palmomental, snout, glabellar) (HP:0002476) | 2.09776864 |
| 106 | Nemaline bodies (HP:0003798) | 2.06431408 |
| 107 | Abnormality of purine metabolism (HP:0004352) | 2.04726116 |
| 108 | Macrocytic anemia (HP:0001972) | 2.04377825 |
| 109 | Increased serum ferritin (HP:0003281) | 2.02620058 |
| 110 | Centrally nucleated skeletal muscle fibers (HP:0003687) | 2.02137133 |
| 111 | Brushfield spots (HP:0001088) | 2.02104527 |
| 112 | Respiratory difficulties (HP:0002880) | 2.02093511 |
| 113 | Abnormality of the level of lipoprotein cholesterol (HP:0010979) | 2.01238756 |
| 114 | Mutism (HP:0002300) | 2.01197555 |
| 115 | Aplastic anemia (HP:0001915) | 1.99587659 |
| 116 | Muscle fiber inclusion bodies (HP:0100299) | 1.98815063 |
| 117 | Muscle fiber cytoplasmatic inclusion bodies (HP:0100303) | 1.98460799 |
| 118 | Abnormality of nucleobase metabolism (HP:0010932) | 1.98265617 |
| 119 | Abnormality of the intrinsic pathway (HP:0010989) | 1.98195703 |
| 120 | Reduced subcutaneous adipose tissue (HP:0003758) | 1.98048986 |
| 121 | Abnormality of the heme biosynthetic pathway (HP:0010472) | 1.92957546 |
| 122 | Emotional lability (HP:0000712) | 1.92392307 |
| 123 | Exertional dyspnea (HP:0002875) | 1.91641467 |
| 124 | Optic disc pallor (HP:0000543) | 1.91240566 |
| 125 | Tinnitus (HP:0000360) | 1.90855773 |
| 126 | Leukodystrophy (HP:0002415) | 1.90429690 |
| 127 | Abnormality of sulfur amino acid metabolism (HP:0004339) | 1.89880380 |
| 128 | Hyperbilirubinemia (HP:0002904) | 1.89824584 |
| 129 | Muscle stiffness (HP:0003552) | 1.89646715 |
| 130 | Calf muscle hypertrophy (HP:0008981) | 1.89415551 |
| 131 | Abnormality of glutamine family amino acid metabolism (HP:0010902) | 1.89177557 |
| 132 | Microvesicular hepatic steatosis (HP:0001414) | 1.88462121 |
| 133 | Progressive external ophthalmoplegia (HP:0000590) | 1.86598064 |
| 134 | Myopathic facies (HP:0002058) | 1.86469897 |
| 135 | Gliosis (HP:0002171) | 1.85913451 |
| 136 | Shoulder girdle muscle weakness (HP:0003547) | 1.85379765 |
| 137 | Abnormality of pyrimidine metabolism (HP:0004353) | 1.85344619 |
| 138 | Distal lower limb muscle weakness (HP:0009053) | 1.84001889 |
| 139 | Delusions (HP:0000746) | 1.83791356 |
| 140 | * 3-Methylglutaconic aciduria (HP:0003535) | 1.81389701 |
| 141 | Fasciculations (HP:0002380) | 1.79353214 |
| 142 | Areflexia of lower limbs (HP:0002522) | 1.78954066 |
| 143 | Amniotic constriction ring (HP:0009775) | 1.77874330 |
| 144 | Abnormality of placental membranes (HP:0011409) | 1.77874330 |
| 145 | Sensorimotor neuropathy (HP:0007141) | 1.77685779 |
| 146 | Abnormality of macrophages (HP:0004311) | 1.75815103 |
| 147 | Cerebral hypomyelination (HP:0006808) | 1.75496027 |
| 148 | Disinhibition (HP:0000734) | 1.75464212 |
| 149 | Increased IgM level (HP:0003496) | 1.75013472 |
| 150 | Frequent falls (HP:0002359) | 1.74410766 |
| 151 | X-linked dominant inheritance (HP:0001423) | 1.73417900 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | BCKDK | 5.00682268 |
| 2 | NME2 | 4.89790205 |
| 3 | EIF2AK1 | 4.09782120 |
| 4 | STK16 | 3.75989772 |
| 5 | MST4 | 3.19367958 |
| 6 | BUB1 | 3.08423640 |
| 7 | WEE1 | 2.94383139 |
| 8 | NME1 | 2.57114116 |
| 9 | NEK1 | 2.03447718 |
| 10 | PIM2 | 2.03137262 |
| 11 | PINK1 | 1.99818611 |
| 12 | PBK | 1.96019312 |
| 13 | MAPKAPK3 | 1.95931140 |
| 14 | EIF2AK3 | 1.94661700 |
| 15 | PDK4 | 1.88088145 |
| 16 | PDK3 | 1.88088145 |
| 17 | ARAF | 1.78388655 |
| 18 | TESK1 | 1.71607904 |
| 19 | DYRK3 | 1.70851396 |
| 20 | FLT3 | 1.70487286 |
| 21 | MUSK | 1.66804027 |
| 22 | VRK2 | 1.61876324 |
| 23 | MAP3K11 | 1.61243108 |
| 24 | LIMK1 | 1.57947618 |
| 25 | RPS6KA4 | 1.55928344 |
| 26 | NEK9 | 1.55582433 |
| 27 | KDR | 1.50385534 |
| 28 | TRIB3 | 1.49918168 |
| 29 | BRSK2 | 1.49025324 |
| 30 | VRK1 | 1.30843874 |
| 31 | CSNK1G3 | 1.29479755 |
| 32 | TAOK2 | 1.29457277 |
| 33 | ZAK | 1.24640899 |
| 34 | CCNB1 | 1.23080254 |
| 35 | OBSCN | 1.22770731 |
| 36 | RIPK4 | 1.19153574 |
| 37 | TIE1 | 1.18881439 |
| 38 | TAOK1 | 1.16266490 |
| 39 | ACVR1B | 1.16082428 |
| 40 | TSSK6 | 1.16034062 |
| 41 | PLK4 | 1.14957966 |
| 42 | ABL2 | 1.14804878 |
| 43 | DAPK1 | 1.11665964 |
| 44 | MAP2K3 | 1.10807860 |
| 45 | SRPK1 | 1.07535218 |
| 46 | CAMKK2 | 1.06930364 |
| 47 | GRK7 | 1.06900384 |
| 48 | TRIM28 | 1.05611408 |
| 49 | NEK2 | 1.04850901 |
| 50 | IRAK3 | 1.03460548 |
| 51 | LMTK2 | 1.02790983 |
| 52 | MATK | 1.02551039 |
| 53 | EPHA2 | 1.01917396 |
| 54 | BRAF | 1.00197436 |
| 55 | MST1R | 0.99223284 |
| 56 | MOS | 0.98728568 |
| 57 | CSNK1G2 | 0.95521706 |
| 58 | PIK3CG | 0.95427327 |
| 59 | PDK2 | 0.94441363 |
| 60 | ERN1 | 0.91723020 |
| 61 | CDC7 | 0.91126605 |
| 62 | MAP3K5 | 0.90567245 |
| 63 | DAPK3 | 0.89846757 |
| 64 | TTN | 0.89328529 |
| 65 | PKN2 | 0.89085907 |
| 66 | SIK3 | 0.88959686 |
| 67 | IKBKB | 0.86074029 |
| 68 | TESK2 | 0.84263699 |
| 69 | TTK | 0.83797953 |
| 70 | TYK2 | 0.82015034 |
| 71 | CSNK1A1L | 0.81078360 |
| 72 | MYLK | 0.80276860 |
| 73 | RAF1 | 0.79770646 |
| 74 | MAP3K12 | 0.78835587 |
| 75 | MARK3 | 0.78729573 |
| 76 | MAPK11 | 0.78146174 |
| 77 | BMX | 0.77746281 |
| 78 | CSNK1G1 | 0.76938710 |
| 79 | AURKB | 0.75990911 |
| 80 | PLK1 | 0.75011940 |
| 81 | PAK1 | 0.73439843 |
| 82 | ADRBK2 | 0.73059267 |
| 83 | AURKA | 0.71181274 |
| 84 | ILK | 0.70339860 |
| 85 | CDK8 | 0.70075346 |
| 86 | CDK19 | 0.69736005 |
| 87 | MAP4K2 | 0.69170119 |
| 88 | BRSK1 | 0.68818286 |
| 89 | STK24 | 0.66979461 |
| 90 | MAP3K3 | 0.63732261 |
| 91 | RPS6KB2 | 0.63684332 |
| 92 | EIF2AK2 | 0.63585634 |
| 93 | MAP2K7 | 0.62694365 |
| 94 | GRK5 | 0.61047517 |
| 95 | TLK1 | 0.58778194 |
| 96 | SCYL2 | 0.54834061 |
| 97 | MAP2K6 | 0.54346859 |
| 98 | TBK1 | 0.52863553 |
| 99 | NLK | 0.52337638 |
| 100 | MAP3K14 | 0.51831057 |
| 101 | CDK4 | 0.51392726 |
| 102 | CAMK2G | 0.51031715 |
| 103 | CSF1R | 0.50913930 |
| 104 | PKN1 | 0.50380007 |
| 105 | TEC | 0.50303971 |
| 106 | PRKG2 | 0.49332997 |
| 107 | MAP3K8 | 0.48599121 |
| 108 | PHKG1 | 0.48214068 |
| 109 | PHKG2 | 0.48214068 |
| 110 | KIT | 0.47351326 |
| 111 | CDK14 | 0.46473416 |
| 112 | STK38L | 0.45679068 |
| 113 | PAK4 | 0.43125789 |
| 114 | MAP3K13 | 0.42716151 |
| 115 | CSNK2A1 | 0.42397867 |
| 116 | CDK7 | 0.41170337 |
| 117 | MAPK12 | 0.40889556 |
| 118 | BLK | 0.40404538 |
| 119 | FGFR4 | 0.37679068 |
| 120 | ERBB3 | 0.36862932 |
| 121 | PIM1 | 0.36563167 |
| 122 | AKT2 | 0.36478368 |
| 123 | IRAK1 | 0.35685595 |
| 124 | TGFBR1 | 0.34637129 |
| 125 | ALK | 0.34240482 |
| 126 | CAMK2D | 0.34206212 |
| 127 | NUAK1 | 0.33980235 |
| 128 | CAMK2A | 0.33910209 |
| 129 | CSNK2A2 | 0.33744402 |
| 130 | IRAK2 | 0.31436767 |
| 131 | FGR | 0.30688627 |
| 132 | PRKAA2 | 0.30565554 |
| 133 | LRRK2 | 0.30333383 |
| 134 | RPS6KA5 | 0.28594068 |
| 135 | PLK3 | 0.27911856 |
| 136 | MAP2K1 | 0.27381278 |
| 137 | INSRR | 0.27213897 |
| 138 | MAPK4 | 0.25172703 |
| 139 | BMPR2 | 0.25057799 |
| 140 | SYK | 0.23992283 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 3.16426860 |
| 2 | Proteasome_Homo sapiens_hsa03050 | 2.84279035 |
| 3 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.67386500 |
| 4 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 2.60741186 |
| 5 | Ribosome_Homo sapiens_hsa03010 | 2.58133093 |
| 6 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 2.57012352 |
| 7 | Folate biosynthesis_Homo sapiens_hsa00790 | 2.54200665 |
| 8 | Fatty acid degradation_Homo sapiens_hsa00071 | 2.52483483 |
| 9 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 2.47693526 |
| 10 | Sulfur relay system_Homo sapiens_hsa04122 | 2.28622829 |
| 11 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 2.26815984 |
| 12 | RNA polymerase_Homo sapiens_hsa03020 | 2.13848450 |
| 13 | Carbon metabolism_Homo sapiens_hsa01200 | 2.11912245 |
| 14 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 2.06565022 |
| 15 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 2.04830211 |
| 16 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 2.03639434 |
| 17 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 2.01600598 |
| 18 | Parkinsons disease_Homo sapiens_hsa05012 | 1.96339387 |
| 19 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 1.88260677 |
| 20 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.87152443 |
| 21 | Peroxisome_Homo sapiens_hsa04146 | 1.81991168 |
| 22 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.79258480 |
| 23 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.74109469 |
| 24 | DNA replication_Homo sapiens_hsa03030 | 1.71636143 |
| 25 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 1.71087293 |
| 26 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 1.70926108 |
| 27 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 1.69136145 |
| 28 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.67357285 |
| 29 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 1.62418840 |
| 30 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.60818669 |
| 31 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.59579224 |
| 32 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 1.55641675 |
| 33 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.51524924 |
| 34 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 1.48861509 |
| 35 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.46733253 |
| 36 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.44316481 |
| 37 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 1.43236359 |
| 38 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.38112120 |
| 39 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 1.33768434 |
| 40 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 1.33384573 |
| 41 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 1.31013263 |
| 42 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 1.30523838 |
| 43 | Huntingtons disease_Homo sapiens_hsa05016 | 1.30260426 |
| 44 | Lysosome_Homo sapiens_hsa04142 | 1.25717444 |
| 45 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 1.22815897 |
| 46 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.21660902 |
| 47 | Alzheimers disease_Homo sapiens_hsa05010 | 1.16975356 |
| 48 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.16058706 |
| 49 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 1.15402850 |
| 50 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.14968421 |
| 51 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 1.13293680 |
| 52 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.11920256 |
| 53 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 1.08748894 |
| 54 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.07010113 |
| 55 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.06770020 |
| 56 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.05514627 |
| 57 | Protein export_Homo sapiens_hsa03060 | 1.05340453 |
| 58 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 1.04251976 |
| 59 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 1.03504350 |
| 60 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.03384809 |
| 61 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 1.01090190 |
| 62 | Sulfur metabolism_Homo sapiens_hsa00920 | 1.01012196 |
| 63 | Legionellosis_Homo sapiens_hsa05134 | 1.00718701 |
| 64 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.98155041 |
| 65 | Purine metabolism_Homo sapiens_hsa00230 | 0.97941968 |
| 66 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.96375274 |
| 67 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.96283214 |
| 68 | Metabolic pathways_Homo sapiens_hsa01100 | 0.95665050 |
| 69 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.93976199 |
| 70 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.91953280 |
| 71 | Base excision repair_Homo sapiens_hsa03410 | 0.91403049 |
| 72 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 0.87980347 |
| 73 | RNA transport_Homo sapiens_hsa03013 | 0.87231780 |
| 74 | Shigellosis_Homo sapiens_hsa05131 | 0.84314854 |
| 75 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.84176064 |
| 76 | Retinol metabolism_Homo sapiens_hsa00830 | 0.84128877 |
| 77 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.83793072 |
| 78 | Mismatch repair_Homo sapiens_hsa03430 | 0.83733963 |
| 79 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.74993708 |
| 80 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.74333352 |
| 81 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.73564315 |
| 82 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.72815705 |
| 83 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.72447625 |
| 84 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.72120331 |
| 85 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 0.71633325 |
| 86 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 0.70072386 |
| 87 | Phagosome_Homo sapiens_hsa04145 | 0.68661475 |
| 88 | Homologous recombination_Homo sapiens_hsa03440 | 0.68310692 |
| 89 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.67701225 |
| 90 | Spliceosome_Homo sapiens_hsa03040 | 0.65363789 |
| 91 | Toll-like receptor signaling pathway_Homo sapiens_hsa04620 | 0.64900968 |
| 92 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.62970962 |
| 93 | Asthma_Homo sapiens_hsa05310 | 0.61811276 |
| 94 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.61168352 |
| 95 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.60912454 |
| 96 | Galactose metabolism_Homo sapiens_hsa00052 | 0.58943445 |
| 97 | Salmonella infection_Homo sapiens_hsa05132 | 0.58747219 |
| 98 | Other glycan degradation_Homo sapiens_hsa00511 | 0.56930213 |
| 99 | Histidine metabolism_Homo sapiens_hsa00340 | 0.56826701 |
| 100 | Viral myocarditis_Homo sapiens_hsa05416 | 0.55257808 |
| 101 | Allograft rejection_Homo sapiens_hsa05330 | 0.54289408 |
| 102 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.54093168 |
| 103 | RNA degradation_Homo sapiens_hsa03018 | 0.53586404 |
| 104 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.52701248 |
| 105 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.50999325 |
| 106 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.48088961 |
| 107 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 0.47980428 |
| 108 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.47530197 |
| 109 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.46812669 |
| 110 | Alcoholism_Homo sapiens_hsa05034 | 0.43621217 |
| 111 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.42075631 |
| 112 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.41809357 |
| 113 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.39288510 |
| 114 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.36899746 |
| 115 | Cell cycle_Homo sapiens_hsa04110 | 0.36800433 |
| 116 | Tuberculosis_Homo sapiens_hsa05152 | 0.36687823 |
| 117 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 0.34194829 |
| 118 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.33163998 |
| 119 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.33123385 |
| 120 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.32831828 |
| 121 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.32516556 |
| 122 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.32043639 |
| 123 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.29302039 |
| 124 | RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622 | 0.29083757 |
| 125 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.28713444 |
| 126 | Pertussis_Homo sapiens_hsa05133 | 0.26998235 |
| 127 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.26378315 |
| 128 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.24741035 |
| 129 | Basal transcription factors_Homo sapiens_hsa03022 | 0.21775332 |
| 130 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.19734044 |
| 131 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.16055320 |
| 132 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.15515453 |
| 133 | ABC transporters_Homo sapiens_hsa02010 | 0.14953471 |
| 134 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.12508111 |
| 135 | Bile secretion_Homo sapiens_hsa04976 | 0.11710491 |
| 136 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.11618633 |
| 137 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.09836513 |

