

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | DNA deamination (GO:0045006) | 5.92571522 |
| 2 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 5.02197454 |
| 3 | energy coupled proton transport, down electrochemical gradient (GO:0015985) | 4.71208793 |
| 4 | ATP synthesis coupled proton transport (GO:0015986) | 4.71208793 |
| 5 | pyrimidine deoxyribonucleotide catabolic process (GO:0009223) | 4.68813931 |
| 6 | glycine metabolic process (GO:0006544) | 4.67860384 |
| 7 | chaperone-mediated protein transport (GO:0072321) | 4.56009636 |
| 8 | protein complex biogenesis (GO:0070271) | 4.52859267 |
| 9 | mitochondrial respiratory chain complex assembly (GO:0033108) | 4.37942620 |
| 10 | mitochondrial respiratory chain complex I biogenesis (GO:0097031) | 4.37659552 |
| 11 | mitochondrial respiratory chain complex I assembly (GO:0032981) | 4.37659552 |
| 12 | NADH dehydrogenase complex assembly (GO:0010257) | 4.37659552 |
| 13 | L-phenylalanine metabolic process (GO:0006558) | 4.29941985 |
| 14 | erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221) | 4.29941985 |
| 15 | establishment of protein localization to mitochondrial membrane (GO:0090151) | 4.25031640 |
| 16 | folic acid metabolic process (GO:0046655) | 4.24682249 |
| 17 | mitochondrial electron transport, NADH to ubiquinone (GO:0006120) | 4.21481635 |
| 18 | serine family amino acid biosynthetic process (GO:0009070) | 4.05574545 |
| 19 | proteasome assembly (GO:0043248) | 4.02125626 |
| 20 | respiratory electron transport chain (GO:0022904) | 4.00854820 |
| 21 | base-excision repair, AP site formation (GO:0006285) | 3.99678874 |
| 22 | maturation of SSU-rRNA (GO:0030490) | 3.99270461 |
| 23 | nucleobase biosynthetic process (GO:0046112) | 3.98574472 |
| 24 | serine family amino acid catabolic process (GO:0009071) | 3.96169459 |
| 25 | electron transport chain (GO:0022900) | 3.95714878 |
| 26 | erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222) | 3.93869314 |
| 27 | L-phenylalanine catabolic process (GO:0006559) | 3.93869314 |
| 28 | respiratory chain complex IV assembly (GO:0008535) | 3.90751098 |
| 29 | serine family amino acid metabolic process (GO:0009069) | 3.88483609 |
| 30 | formation of translation preinitiation complex (GO:0001731) | 3.86950004 |
| 31 | purine nucleobase biosynthetic process (GO:0009113) | 3.86826972 |
| 32 | iron-sulfur cluster assembly (GO:0016226) | 3.84897855 |
| 33 | metallo-sulfur cluster assembly (GO:0031163) | 3.84897855 |
| 34 | pyrimidine nucleotide catabolic process (GO:0006244) | 3.84144827 |
| 35 | protein targeting to mitochondrion (GO:0006626) | 3.82679332 |
| 36 | L-serine metabolic process (GO:0006563) | 3.76166197 |
| 37 | RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394) | 3.68853009 |
| 38 | tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) | 3.68853009 |
| 39 | folic acid-containing compound biosynthetic process (GO:0009396) | 3.68788431 |
| 40 | cytochrome complex assembly (GO:0017004) | 3.68735857 |
| 41 | establishment of protein localization to mitochondrion (GO:0072655) | 3.61109462 |
| 42 | pyrimidine deoxyribonucleotide metabolic process (GO:0009219) | 3.58921158 |
| 43 | cysteine metabolic process (GO:0006534) | 3.57545836 |
| 44 | glyoxylate metabolic process (GO:0046487) | 3.57413097 |
| 45 | L-methionine salvage (GO:0071267) | 3.57225730 |
| 46 | L-methionine biosynthetic process (GO:0071265) | 3.57225730 |
| 47 | amino acid salvage (GO:0043102) | 3.57225730 |
| 48 | peptidyl-histidine modification (GO:0018202) | 3.50736332 |
| 49 | aromatic amino acid family catabolic process (GO:0009074) | 3.50560187 |
| 50 | ribosomal small subunit assembly (GO:0000028) | 3.48651056 |
| 51 | ribosome assembly (GO:0042255) | 3.40895964 |
| 52 | nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291) | 3.39333077 |
| 53 | protein localization to mitochondrion (GO:0070585) | 3.39274271 |
| 54 | ubiquinone biosynthetic process (GO:0006744) | 3.37884142 |
| 55 | * pseudouridine synthesis (GO:0001522) | 3.33744445 |
| 56 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 3.31251791 |
| 57 | ribosome biogenesis (GO:0042254) | 3.29233098 |
| 58 | sulfur amino acid biosynthetic process (GO:0000097) | 3.29099321 |
| 59 | cullin deneddylation (GO:0010388) | 3.24584760 |
| 60 | rRNA methylation (GO:0031167) | 3.22836709 |
| 61 | sulfur amino acid catabolic process (GO:0000098) | 3.21363053 |
| 62 | deoxyribonucleotide catabolic process (GO:0009264) | 3.21360970 |
| 63 | triglyceride-rich lipoprotein particle remodeling (GO:0034370) | 3.20236180 |
| 64 | tRNA processing (GO:0008033) | 3.18835694 |
| 65 | ribosomal large subunit biogenesis (GO:0042273) | 3.18329888 |
| 66 | protein deneddylation (GO:0000338) | 3.17788763 |
| 67 | pteridine-containing compound biosynthetic process (GO:0042559) | 3.17071650 |
| 68 | maturation of 5.8S rRNA (GO:0000460) | 3.16421486 |
| 69 | L-methionine biosynthetic process from methylthioadenosine (GO:0019509) | 3.14640983 |
| 70 | DNA replication initiation (GO:0006270) | 3.12241557 |
| 71 | tryptophan catabolic process (GO:0006569) | 3.12237460 |
| 72 | indole-containing compound catabolic process (GO:0042436) | 3.12237460 |
| 73 | indolalkylamine catabolic process (GO:0046218) | 3.12237460 |
| 74 | ribonucleoprotein complex biogenesis (GO:0022613) | 3.12149356 |
| 75 | GTP biosynthetic process (GO:0006183) | 3.09256741 |
| 76 | deoxyribose phosphate catabolic process (GO:0046386) | 3.09005350 |
| 77 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00 | 3.08589281 |
| 78 | folic acid-containing compound metabolic process (GO:0006760) | 3.06800081 |
| 79 | DNA strand elongation involved in DNA replication (GO:0006271) | 3.05946123 |
| 80 | viral transcription (GO:0019083) | 3.05507602 |
| 81 | signal transduction involved in mitotic DNA damage checkpoint (GO:1902402) | 3.05087758 |
| 82 | signal transduction involved in mitotic cell cycle checkpoint (GO:0072413) | 3.05087758 |
| 83 | signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403) | 3.05087758 |
| 84 | pyrimidine nucleoside triphosphate metabolic process (GO:0009147) | 3.03615415 |
| 85 | translation (GO:0006412) | 3.03540611 |
| 86 | kynurenine metabolic process (GO:0070189) | 3.03474243 |
| 87 | DNA damage response, detection of DNA damage (GO:0042769) | 3.02915971 |
| 88 | aldehyde catabolic process (GO:0046185) | 3.02521859 |
| 89 | guanosine-containing compound biosynthetic process (GO:1901070) | 3.01623176 |
| 90 | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436) | 3.01616921 |
| 91 | intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400) | 3.01544781 |
| 92 | signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431) | 3.01544781 |
| 93 | translational elongation (GO:0006414) | 3.01253277 |
| 94 | deoxyribonucleoside triphosphate metabolic process (GO:0009200) | 3.00216880 |
| 95 | ubiquinone metabolic process (GO:0006743) | 2.99926807 |
| 96 | pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148) | 2.99616097 |
| 97 | positive regulation of ubiquitin-protein transferase activity (GO:0051443) | 2.99578151 |
| 98 | translational termination (GO:0006415) | 2.98882637 |
| 99 | tRNA metabolic process (GO:0006399) | 2.98595161 |
| 100 | methionine metabolic process (GO:0006555) | 2.98229615 |
| 101 | transcription from mitochondrial promoter (GO:0006390) | 2.98186986 |
| 102 | tetrahydrofolate metabolic process (GO:0046653) | 2.98136391 |
| 103 | galactose catabolic process (GO:0019388) | 2.97201557 |
| 104 | purine ribonucleoside triphosphate biosynthetic process (GO:0009206) | 2.96828636 |
| 105 | purine nucleoside triphosphate biosynthetic process (GO:0009145) | 2.96573467 |
| 106 | water-soluble vitamin biosynthetic process (GO:0042364) | 2.96328423 |
| 107 | signal transduction involved in DNA damage checkpoint (GO:0072422) | 2.96195783 |
| 108 | signal transduction involved in DNA integrity checkpoint (GO:0072401) | 2.96195783 |
| 109 | deoxyribonucleoside monophosphate metabolic process (GO:0009162) | 2.94897208 |
| 110 | methionine biosynthetic process (GO:0009086) | 2.94668908 |
| 111 | mitochondrial transport (GO:0006839) | 2.94291580 |
| 112 | aromatic amino acid family metabolic process (GO:0009072) | 2.93381551 |
| 113 | signal transduction involved in cell cycle checkpoint (GO:0072395) | 2.93310502 |
| 114 | ATP biosynthetic process (GO:0006754) | 2.92903972 |
| 115 | bile acid biosynthetic process (GO:0006699) | 2.91603631 |
| 116 | proline biosynthetic process (GO:0006561) | 2.91158261 |
| 117 | regulation of cellular amino acid metabolic process (GO:0006521) | 2.90953790 |
| 118 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) | 2.89902723 |
| 119 | ncRNA processing (GO:0034470) | 2.89681559 |
| 120 | positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437) | 2.89656887 |
| 121 | ribosomal small subunit biogenesis (GO:0042274) | 2.89575289 |
| 122 | nucleoside salvage (GO:0043174) | 2.89497442 |
| 123 | UTP biosynthetic process (GO:0006228) | 2.89076779 |
| 124 | DNA strand elongation (GO:0022616) | 2.88768043 |
| 125 | rRNA processing (GO:0006364) | 2.88750936 |
| 126 | pteridine-containing compound metabolic process (GO:0042558) | 2.88716734 |
| 127 | amino-acid betaine metabolic process (GO:0006577) | 2.88432837 |
| 128 | telomere maintenance via semi-conservative replication (GO:0032201) | 2.88365864 |
| 129 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0 | 2.87616888 |
| 130 | positive regulation of ligase activity (GO:0051351) | 2.87397885 |
| 131 | oxidative phosphorylation (GO:0006119) | 2.87373157 |
| 132 | urea cycle (GO:0000050) | 2.87249204 |
| 133 | urea metabolic process (GO:0019627) | 2.87249204 |
| 134 | spliceosomal snRNP assembly (GO:0000387) | 2.86960117 |
| 135 | chromatin remodeling at centromere (GO:0031055) | 2.86869664 |
| 136 | tryptophan metabolic process (GO:0006568) | 2.86831527 |
| 137 | one-carbon metabolic process (GO:0006730) | 2.86340255 |
| 138 | proline metabolic process (GO:0006560) | 2.85350252 |
| 139 | translational initiation (GO:0006413) | 2.84115317 |
| 140 | nitrogen cycle metabolic process (GO:0071941) | 2.81762621 |
| 141 | alpha-amino acid catabolic process (GO:1901606) | 2.78210543 |
| 142 | negative regulation of ligase activity (GO:0051352) | 2.77957643 |
| 143 | negative regulation of ubiquitin-protein transferase activity (GO:0051444) | 2.77957643 |
| 144 | rRNA metabolic process (GO:0016072) | 2.76365545 |
| 145 | lysine catabolic process (GO:0006554) | 2.75708201 |
| 146 | lysine metabolic process (GO:0006553) | 2.75708201 |
| 147 | imidazole-containing compound metabolic process (GO:0052803) | 2.75686383 |
| 148 | mitochondrial RNA metabolic process (GO:0000959) | 2.75289520 |
| 149 | sulfur amino acid metabolic process (GO:0000096) | 2.74590525 |
| 150 | cellular component biogenesis (GO:0044085) | 2.69207471 |
| 151 | DNA replication checkpoint (GO:0000076) | 2.68849204 |
| 152 | regulation of gene silencing by RNA (GO:0060966) | 2.68340368 |
| 153 | regulation of posttranscriptional gene silencing (GO:0060147) | 2.68340368 |
| 154 | regulation of gene silencing by miRNA (GO:0060964) | 2.68340368 |
| 155 | transcription elongation from RNA polymerase III promoter (GO:0006385) | 2.68215217 |
| 156 | termination of RNA polymerase III transcription (GO:0006386) | 2.68215217 |
| 157 | termination of RNA polymerase I transcription (GO:0006363) | 2.67605427 |
| 158 | rRNA modification (GO:0000154) | 2.66368255 |
| 159 | homocysteine metabolic process (GO:0050667) | 2.64389308 |
| 160 | pyrimidine nucleoside monophosphate metabolic process (GO:0009129) | 2.63858365 |
| 161 | regulation of mitochondrial translation (GO:0070129) | 2.62991730 |
| 162 | IMP biosynthetic process (GO:0006188) | 2.62389203 |
| 163 | negative regulation of fibrinolysis (GO:0051918) | 2.62173950 |
| 164 | aspartate family amino acid biosynthetic process (GO:0009067) | 2.61420816 |
| 165 | mitotic metaphase plate congression (GO:0007080) | 2.61224685 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | E2F7_22180533_ChIP-Seq_HELA_Human | 4.16176234 |
| 2 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 4.03173001 |
| 3 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 3.85374508 |
| 4 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 3.61370954 |
| 5 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 3.20374347 |
| 6 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 3.02752464 |
| 7 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 2.92875450 |
| 8 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 2.90782264 |
| 9 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 2.82437296 |
| 10 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 2.81357995 |
| 11 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 2.80932956 |
| 12 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 2.65515393 |
| 13 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 2.64488035 |
| 14 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 2.56398474 |
| 15 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 2.55452814 |
| 16 | CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 2.39752733 |
| 17 | RXR_22158963_ChIP-Seq_LIVER_Mouse | 2.30005129 |
| 18 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 2.27028189 |
| 19 | XRN2_22483619_ChIP-Seq_HELA_Human | 2.21884423 |
| 20 | E2F1_18555785_ChIP-Seq_MESCs_Mouse | 2.18506294 |
| 21 | PPARA_22158963_ChIP-Seq_LIVER_Mouse | 2.18490681 |
| 22 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 2.15573902 |
| 23 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 2.11402300 |
| 24 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 2.08592997 |
| 25 | VDR_23849224_ChIP-Seq_CD4+_Human | 2.03502635 |
| 26 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 2.01912298 |
| 27 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 2.00469407 |
| 28 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 2.00310647 |
| 29 | GABP_19822575_ChIP-Seq_HepG2_Human | 1.97020642 |
| 30 | EGR1_23403033_ChIP-Seq_LIVER_Mouse | 1.96540245 |
| 31 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.89998753 |
| 32 | FOXP3_21729870_ChIP-Seq_TREG_Human | 1.88325311 |
| 33 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 1.86558703 |
| 34 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 1.82201423 |
| 35 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 1.79700621 |
| 36 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 1.79027340 |
| 37 | NANOG_18555785_ChIP-Seq_MESCs_Mouse | 1.77501683 |
| 38 | * SRF_21415370_ChIP-Seq_HL-1_Mouse | 1.77337174 |
| 39 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 1.72332919 |
| 40 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.67096503 |
| 41 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 1.62026694 |
| 42 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 1.61871971 |
| 43 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 1.61031843 |
| 44 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.60756214 |
| 45 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.59379140 |
| 46 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.58504840 |
| 47 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 1.56768510 |
| 48 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 1.55301856 |
| 49 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.53937833 |
| 50 | ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.52317974 |
| 51 | NOTCH1_21737748_ChIP-Seq_TLL_Human | 1.51518458 |
| 52 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.46316796 |
| 53 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.43827567 |
| 54 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.42582592 |
| 55 | TAL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.41751150 |
| 56 | KDM5A_27292631_Chip-Seq_BREAST_Human | 1.40438894 |
| 57 | SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse | 1.39177610 |
| 58 | CIITA_25753668_ChIP-Seq_RAJI_Human | 1.35772025 |
| 59 | LXR_22158963_ChIP-Seq_LIVER_Mouse | 1.33723568 |
| 60 | SMAD1_18555785_ChIP-Seq_MESCs_Mouse | 1.32707355 |
| 61 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 1.31483708 |
| 62 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 1.29900332 |
| 63 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.28407299 |
| 64 | FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 1.26554842 |
| 65 | FLI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.25674389 |
| 66 | FOXO1_23066095_ChIP-Seq_LIVER_Mouse | 1.23789292 |
| 67 | HNF4A_19761587_ChIP-ChIP_CACO-2_Human | 1.23021594 |
| 68 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.22562423 |
| 69 | NR0B1_18358816_ChIP-ChIP_MESCs_Mouse | 1.22041005 |
| 70 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 1.20137402 |
| 71 | YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.20047696 |
| 72 | POU5F1_18358816_ChIP-ChIP_MESCs_Mouse | 1.18723328 |
| 73 | BCL3_23251550_ChIP-Seq_MUSCLE_Mouse | 1.17355157 |
| 74 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.16697881 |
| 75 | MYC_22102868_ChIP-Seq_BL_Human | 1.15260201 |
| 76 | KLF4_18555785_ChIP-Seq_MESCs_Mouse | 1.15062232 |
| 77 | DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 1.14264270 |
| 78 | SIN3A_21632747_ChIP-Seq_MESCs_Mouse | 1.13287037 |
| 79 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.12405577 |
| 80 | KLF4_18358816_ChIP-ChIP_MESCs_Mouse | 1.11255283 |
| 81 | HOXB4_20404135_ChIP-ChIP_EML_Mouse | 1.10541679 |
| 82 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.10449096 |
| 83 | ERG_20887958_ChIP-Seq_HPC-7_Mouse | 1.10341146 |
| 84 | PADI4_21655091_ChIP-ChIP_MCF-7_Human | 1.08174941 |
| 85 | SFPI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.04773243 |
| 86 | CEBPB_24764292_ChIP-Seq_MC3T3_Mouse | 1.04698785 |
| 87 | OCT4_18692474_ChIP-Seq_MEFs_Mouse | 1.04291981 |
| 88 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.01670821 |
| 89 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.01659880 |
| 90 | TFEB_21752829_ChIP-Seq_HELA_Human | 1.01458230 |
| 91 | SOX2_18692474_ChIP-Seq_MEFs_Mouse | 1.01402334 |
| 92 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.00625173 |
| 93 | ELK1_19687146_ChIP-ChIP_HELA_Human | 0.97827572 |
| 94 | CNOT3_19339689_ChIP-ChIP_MESCs_Mouse | 0.96609279 |
| 95 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 0.96435039 |
| 96 | P68_20966046_ChIP-Seq_HELA_Human | 0.95506636 |
| 97 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 0.94690308 |
| 98 | BCL6_27268052_Chip-Seq_Bcells_Human | 0.94044521 |
| 99 | NACC1_18358816_ChIP-ChIP_MESCs_Mouse | 0.93035646 |
| 100 | ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 0.92806698 |
| 101 | E2F1_20622854_ChIP-Seq_HELA_Human | 0.92564507 |
| 102 | IRF1_19129219_ChIP-ChIP_H3396_Human | 0.91846204 |
| 103 | GFI1B_20887958_ChIP-Seq_HPC-7_Mouse | 0.91430267 |
| 104 | KLF4_19030024_ChIP-ChIP_MESCs_Mouse | 0.90361773 |
| 105 | FOXP1_21924763_ChIP-Seq_HESCs_Human | 0.90233584 |
| 106 | FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 0.90190228 |
| 107 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 0.89961160 |
| 108 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 0.89599629 |
| 109 | SRY_22984422_ChIP-ChIP_TESTIS_Rat | 0.89592041 |
| 110 | PHF8_20622854_ChIP-Seq_HELA_Human | 0.89527425 |
| 111 | PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse | 0.89331387 |
| 112 | E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human | 0.88643876 |
| 113 | TP53_22573176_ChIP-Seq_HFKS_Human | 0.87971274 |
| 114 | * YY1_22570637_ChIP-Seq_MALME-3M_Human | 0.87396483 |
| 115 | ASH2L_23239880_ChIP-Seq_MESCs_Mouse | 0.87062962 |
| 116 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 0.86824833 |
| 117 | TBX5_21415370_ChIP-Seq_HL-1_Mouse | 0.86704059 |
| 118 | SOX2_18555785_ChIP-Seq_MESCs_Mouse | 0.86606200 |
| 119 | CTCF_18555785_ChIP-Seq_MESCs_Mouse | 0.86380230 |
| 120 | VDR_21846776_ChIP-Seq_THP-1_Human | 0.86240397 |
| 121 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 0.86236929 |
| 122 | SPI1_22096565_ChIP-ChIP_GC-B_Mouse | 0.86217745 |
| 123 | ERA_21632823_ChIP-Seq_H3396_Human | 0.80675558 |
| 124 | CTCF_26484167_Chip-Seq_Bcells_Mouse | 0.78529329 |
| 125 | BCOR_27268052_Chip-Seq_Bcells_Human | 0.75007006 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0002139_abnormal_hepatobiliary_system | 5.41048748 |
| 2 | MP0005360_urolithiasis | 5.11022322 |
| 3 | MP0003806_abnormal_nucleotide_metabolis | 4.75689055 |
| 4 | MP0005085_abnormal_gallbladder_physiolo | 4.15932670 |
| 5 | MP0005365_abnormal_bile_salt | 4.10758537 |
| 6 | MP0003693_abnormal_embryo_hatching | 3.93596902 |
| 7 | MP0009840_abnormal_foam_cell | 3.41733979 |
| 8 | MP0004957_abnormal_blastocyst_morpholog | 3.16429246 |
| 9 | MP0008875_abnormal_xenobiotic_pharmacok | 3.03740452 |
| 10 | MP0003111_abnormal_nucleus_morphology | 2.81831568 |
| 11 | MP0006292_abnormal_olfactory_placode | 2.69923822 |
| 12 | MP0005332_abnormal_amino_acid | 2.51153307 |
| 13 | MP0000372_irregular_coat_pigmentation | 2.48910675 |
| 14 | MP0010094_abnormal_chromosome_stability | 2.35817057 |
| 15 | MP0003077_abnormal_cell_cycle | 2.25399761 |
| 16 | MP0010329_abnormal_lipoprotein_level | 2.19307976 |
| 17 | MP0004019_abnormal_vitamin_homeostasis | 2.12140678 |
| 18 | MP0008877_abnormal_DNA_methylation | 2.11449039 |
| 19 | MP0003186_abnormal_redox_activity | 2.07127235 |
| 20 | MP0009379_abnormal_foot_pigmentation | 2.04964360 |
| 21 | MP0006036_abnormal_mitochondrial_physio | 2.01079404 |
| 22 | MP0003718_maternal_effect | 1.94180374 |
| 23 | MP0003646_muscle_fatigue | 1.92485011 |
| 24 | MP0002938_white_spotting | 1.88643371 |
| 25 | MP0001764_abnormal_homeostasis | 1.87824495 |
| 26 | MP0005083_abnormal_biliary_tract | 1.87097144 |
| 27 | MP0001529_abnormal_vocalization | 1.82013453 |
| 28 | MP0008058_abnormal_DNA_repair | 1.80959289 |
| 29 | MP0005319_abnormal_enzyme/_coenzyme | 1.71028743 |
| 30 | MP0008057_abnormal_DNA_replication | 1.68904520 |
| 31 | MP0006035_abnormal_mitochondrial_morpho | 1.67966393 |
| 32 | MP0005670_abnormal_white_adipose | 1.65703011 |
| 33 | MP0008789_abnormal_olfactory_epithelium | 1.64676649 |
| 34 | MP0000609_abnormal_liver_physiology | 1.64440764 |
| 35 | MP0003252_abnormal_bile_duct | 1.63853876 |
| 36 | MP0001730_embryonic_growth_arrest | 1.63290837 |
| 37 | MP0002653_abnormal_ependyma_morphology | 1.62814313 |
| 38 | MP0003787_abnormal_imprinting | 1.61267117 |
| 39 | MP0003195_calcinosis | 1.58005241 |
| 40 | MP0001666_abnormal_nutrient_absorption | 1.54145214 |
| 41 | MP0001986_abnormal_taste_sensitivity | 1.53309563 |
| 42 | MP0004145_abnormal_muscle_electrophysio | 1.44030121 |
| 43 | MP0002163_abnormal_gland_morphology | 1.40414407 |
| 44 | MP0001968_abnormal_touch/_nociception | 1.39849839 |
| 45 | MP0008932_abnormal_embryonic_tissue | 1.38515688 |
| 46 | MP0003786_premature_aging | 1.35975830 |
| 47 | MP0002736_abnormal_nociception_after | 1.35199472 |
| 48 | MP0002638_abnormal_pupillary_reflex | 1.33867289 |
| 49 | MP0005389_reproductive_system_phenotype | 1.33092441 |
| 50 | MP0000598_abnormal_liver_morphology | 1.31210326 |
| 51 | MP0003121_genomic_imprinting | 1.31057979 |
| 52 | MP0008007_abnormal_cellular_replicative | 1.29562403 |
| 53 | MP0009643_abnormal_urine_homeostasis | 1.28489989 |
| 54 | MP0005075_abnormal_melanosome_morpholog | 1.27559775 |
| 55 | MP0002138_abnormal_hepatobiliary_system | 1.26541680 |
| 56 | MP0002102_abnormal_ear_morphology | 1.23799427 |
| 57 | MP0008872_abnormal_physiological_respon | 1.21926155 |
| 58 | MP0004142_abnormal_muscle_tone | 1.21169187 |
| 59 | MP0006072_abnormal_retinal_apoptosis | 1.19815479 |
| 60 | MP0005551_abnormal_eye_electrophysiolog | 1.17632679 |
| 61 | MP0002234_abnormal_pharynx_morphology | 1.17023472 |
| 62 | MP0004147_increased_porphyrin_level | 1.16253647 |
| 63 | MP0002095_abnormal_skin_pigmentation | 1.15985727 |
| 64 | MP0002837_dystrophic_cardiac_calcinosis | 1.15408818 |
| 65 | MP0002118_abnormal_lipid_homeostasis | 1.14492828 |
| 66 | MP0003656_abnormal_erythrocyte_physiolo | 1.14369272 |
| 67 | MP0005394_taste/olfaction_phenotype | 1.13638370 |
| 68 | MP0005499_abnormal_olfactory_system | 1.13638370 |
| 69 | MP0002080_prenatal_lethality | 1.11168603 |
| 70 | MP0001919_abnormal_reproductive_system | 1.10325046 |
| 71 | MP0005584_abnormal_enzyme/coenzyme_acti | 1.09258749 |
| 72 | MP0000358_abnormal_cell_content/ | 1.08886094 |
| 73 | MP0001697_abnormal_embryo_size | 1.08734060 |
| 74 | MP0001905_abnormal_dopamine_level | 1.08326963 |
| 75 | MP0004133_heterotaxia | 1.07822253 |
| 76 | MP0001672_abnormal_embryogenesis/_devel | 1.07044087 |
| 77 | MP0005380_embryogenesis_phenotype | 1.07044087 |
| 78 | MP0005646_abnormal_pituitary_gland | 1.06968387 |
| 79 | MP0006276_abnormal_autonomic_nervous | 1.06219603 |
| 80 | MP0005451_abnormal_body_composition | 1.05864152 |
| 81 | MP0005084_abnormal_gallbladder_morpholo | 1.04186312 |
| 82 | MP0003123_paternal_imprinting | 1.04068316 |
| 83 | MP0000049_abnormal_middle_ear | 1.02954910 |
| 84 | MP0000350_abnormal_cell_proliferation | 1.02922274 |
| 85 | MP0001188_hyperpigmentation | 1.02634652 |
| 86 | MP0002132_abnormal_respiratory_system | 1.02484488 |
| 87 | MP0009046_muscle_twitch | 1.02202195 |
| 88 | MP0005636_abnormal_mineral_homeostasis | 1.02024434 |
| 89 | MP0009697_abnormal_copulation | 1.01115951 |
| 90 | MP0005410_abnormal_fertilization | 1.00835926 |
| 91 | MP0005266_abnormal_metabolism | 0.99219976 |
| 92 | MP0009333_abnormal_splenocyte_physiolog | 0.98840234 |
| 93 | MP0001853_heart_inflammation | 0.98654732 |
| 94 | MP0003698_abnormal_male_reproductive | 0.97666050 |
| 95 | MP0001661_extended_life_span | 0.96071480 |
| 96 | MP0000015_abnormal_ear_pigmentation | 0.95941585 |
| 97 | MP0000566_synostosis | 0.95656670 |
| 98 | MP0005423_abnormal_somatic_nervous | 0.95447648 |
| 99 | MP0001293_anophthalmia | 0.95232926 |
| 100 | MP0005645_abnormal_hypothalamus_physiol | 0.93554183 |
| 101 | MP0005379_endocrine/exocrine_gland_phen | 0.93540382 |
| 102 | MP0003984_embryonic_growth_retardation | 0.93002297 |
| 103 | MP0002088_abnormal_embryonic_growth/wei | 0.92481782 |
| 104 | MP0003119_abnormal_digestive_system | 0.92431307 |
| 105 | MP0003136_yellow_coat_color | 0.91047575 |
| 106 | MP0002086_abnormal_extraembryonic_tissu | 0.88320037 |
| 107 | MP0010030_abnormal_orbit_morphology | 0.88123869 |
| 108 | MP0002019_abnormal_tumor_incidence | 0.86810058 |
| 109 | MP0000313_abnormal_cell_death | 0.86404227 |
| 110 | MP0001756_abnormal_urination | 0.84344164 |
| 111 | MP0005376_homeostasis/metabolism_phenot | 0.80621989 |
| 112 | MP0002269_muscular_atrophy | 0.79491294 |
| 113 | MP0009672_abnormal_birth_weight | 0.78626393 |
| 114 | MP0005253_abnormal_eye_physiology | 0.78103367 |
| 115 | MP0000631_abnormal_neuroendocrine_gland | 0.77710730 |
| 116 | MP0000689_abnormal_spleen_morphology | 0.76643916 |
| 117 | MP0003567_abnormal_fetal_cardiomyocyte | 0.76574262 |
| 118 | MP0002085_abnormal_embryonic_tissue | 0.76203592 |
| 119 | MP0003191_abnormal_cellular_cholesterol | 0.73104193 |
| 120 | MP0010352_gastrointestinal_tract_polyps | 0.72552984 |
| 121 | MP0002822_catalepsy | 0.72343378 |
| 122 | MP0002735_abnormal_chemical_nociception | 0.71381879 |
| 123 | MP0008469_abnormal_protein_level | 0.70596705 |
| 124 | MP0003941_abnormal_skin_development | 0.69652717 |
| 125 | MP0000750_abnormal_muscle_regeneration | 0.69611099 |
| 126 | MP0002722_abnormal_immune_system | 0.69386944 |
| 127 | MP0001727_abnormal_embryo_implantation | 0.69310600 |
| 128 | MP0003011_delayed_dark_adaptation | 0.69248462 |
| 129 | MP0001145_abnormal_male_reproductive | 0.68951463 |
| 130 | MP0005397_hematopoietic_system_phenotyp | 0.68579639 |
| 131 | MP0001545_abnormal_hematopoietic_system | 0.68579639 |
| 132 | MP0003763_abnormal_thymus_physiology | 0.68413174 |
| 133 | MP0005395_other_phenotype | 0.68192320 |
| 134 | MP0002876_abnormal_thyroid_physiology | 0.67499230 |
| 135 | MP0000490_abnormal_crypts_of | 0.67051427 |
| 136 | MP0008995_early_reproductive_senescence | 0.66473564 |
| 137 | MP0009763_increased_sensitivity_to | 0.66409840 |
| 138 | MP0005330_cardiomyopathy | 0.66242866 |
| 139 | MP0009642_abnormal_blood_homeostasis | 0.65917233 |
| 140 | MP0001324_abnormal_eye_pigmentation | 0.65417312 |
| 141 | MP0003137_abnormal_impulse_conducting | 0.65116707 |
| 142 | MP0005174_abnormal_tail_pigmentation | 0.64892597 |
| 143 | MP0002161_abnormal_fertility/fecundity | 0.64595008 |
| 144 | MP0002210_abnormal_sex_determination | 0.63657402 |
| 145 | MP0001929_abnormal_gametogenesis | 0.62569150 |
| 146 | MP0002160_abnormal_reproductive_system | 0.62395399 |
| 147 | MP0002084_abnormal_developmental_patter | 0.61745343 |
| 148 | MP0002254_reproductive_system_inflammat | 0.61472727 |
| 149 | MP0002396_abnormal_hematopoietic_system | 0.61132738 |
| 150 | MP0000653_abnormal_sex_gland | 0.60689425 |
| 151 | MP0005220_abnormal_exocrine_pancreas | 0.59199474 |
| 152 | MP0003880_abnormal_central_pattern | 0.59180620 |
| 153 | MP0002970_abnormal_white_adipose | 0.57509799 |
| 154 | MP0001119_abnormal_female_reproductive | 0.57247978 |
| 155 | MP0008873_increased_physiological_sensi | 0.56345860 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormality of aromatic amino acid family metabolism (HP:0004338) | 4.92003963 |
| 2 | Hypobetalipoproteinemia (HP:0003563) | 4.72959386 |
| 3 | Abnormality of monocarboxylic acid metabolism (HP:0010996) | 4.61603263 |
| 4 | Hyperglycinemia (HP:0002154) | 4.23833375 |
| 5 | Abnormality of pyrimidine metabolism (HP:0004353) | 4.18436229 |
| 6 | Hyperglycinuria (HP:0003108) | 4.15020555 |
| 7 | Intrahepatic cholestasis (HP:0001406) | 4.11713113 |
| 8 | Progressive macrocephaly (HP:0004481) | 3.93153331 |
| 9 | Xanthomatosis (HP:0000991) | 3.93090954 |
| 10 | Lipid accumulation in hepatocytes (HP:0006561) | 3.81913176 |
| 11 | Increased hepatocellular lipid droplets (HP:0006565) | 3.80946155 |
| 12 | Abnormality of serine family amino acid metabolism (HP:0010894) | 3.63332202 |
| 13 | Abnormality of glycine metabolism (HP:0010895) | 3.63332202 |
| 14 | Increased intramyocellular lipid droplets (HP:0012240) | 3.60306076 |
| 15 | Hyperammonemia (HP:0001987) | 3.58706867 |
| 16 | Hyperlipoproteinemia (HP:0010980) | 3.43717782 |
| 17 | Birth length less than 3rd percentile (HP:0003561) | 3.43162451 |
| 18 | Renal Fanconi syndrome (HP:0001994) | 3.31581561 |
| 19 | Deep venous thrombosis (HP:0002625) | 3.28928597 |
| 20 | Increased muscle lipid content (HP:0009058) | 3.24933793 |
| 21 | Delayed CNS myelination (HP:0002188) | 3.24653100 |
| 22 | Prolonged partial thromboplastin time (HP:0003645) | 3.23242648 |
| 23 | Hypolipoproteinemia (HP:0010981) | 3.17933939 |
| 24 | Oral leukoplakia (HP:0002745) | 3.16388253 |
| 25 | Abnormality of dicarboxylic acid metabolism (HP:0010995) | 3.08541789 |
| 26 | Dicarboxylic aciduria (HP:0003215) | 3.08541789 |
| 27 | Lethargy (HP:0001254) | 3.06710032 |
| 28 | Hepatic necrosis (HP:0002605) | 3.02000243 |
| 29 | Abnormality of long-chain fatty-acid metabolism (HP:0010964) | 2.95014158 |
| 30 | Ketosis (HP:0001946) | 2.92825693 |
| 31 | Cerebral edema (HP:0002181) | 2.92348151 |
| 32 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 2.92288814 |
| 33 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 2.92288814 |
| 34 | Exercise intolerance (HP:0003546) | 2.90959137 |
| 35 | Abnormality of serum amino acid levels (HP:0003112) | 2.90669038 |
| 36 | Gout (HP:0001997) | 2.90574570 |
| 37 | 3-Methylglutaconic aciduria (HP:0003535) | 2.87789595 |
| 38 | Abnormality of fatty-acid metabolism (HP:0004359) | 2.87181683 |
| 39 | Breast hypoplasia (HP:0003187) | 2.86992713 |
| 40 | Abnormality of methionine metabolism (HP:0010901) | 2.83541558 |
| 41 | Abnormality of sulfur amino acid metabolism (HP:0004339) | 2.80263701 |
| 42 | Hypoglycemic coma (HP:0001325) | 2.79617789 |
| 43 | Abnormality of the level of lipoprotein cholesterol (HP:0010979) | 2.77342783 |
| 44 | Reticulocytopenia (HP:0001896) | 2.75336476 |
| 45 | Hepatocellular necrosis (HP:0001404) | 2.72726233 |
| 46 | Increased serum lactate (HP:0002151) | 2.70840283 |
| 47 | Abnormality of cells of the erythroid lineage (HP:0012130) | 2.69889184 |
| 48 | Respiratory failure (HP:0002878) | 2.68523851 |
| 49 | Abnormality of aspartate family amino acid metabolism (HP:0010899) | 2.68437001 |
| 50 | Carpal bone hypoplasia (HP:0001498) | 2.66170844 |
| 51 | Brushfield spots (HP:0001088) | 2.64307466 |
| 52 | Abnormal number of erythroid precursors (HP:0012131) | 2.64264335 |
| 53 | Abnormality of nucleobase metabolism (HP:0010932) | 2.60736226 |
| 54 | Multiple enchondromatosis (HP:0005701) | 2.59680539 |
| 55 | Rough bone trabeculation (HP:0100670) | 2.59374255 |
| 56 | Testicular atrophy (HP:0000029) | 2.58534320 |
| 57 | Optic disc pallor (HP:0000543) | 2.55211817 |
| 58 | Abnormal protein glycosylation (HP:0012346) | 2.51458658 |
| 59 | Abnormal glycosylation (HP:0012345) | 2.51458658 |
| 60 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 2.51458658 |
| 61 | Abnormal protein N-linked glycosylation (HP:0012347) | 2.51458658 |
| 62 | Megaloblastic anemia (HP:0001889) | 2.50254337 |
| 63 | Hyperalaninemia (HP:0003348) | 2.47657447 |
| 64 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 2.47657447 |
| 65 | Abnormality of alanine metabolism (HP:0010916) | 2.47657447 |
| 66 | Macrocytic anemia (HP:0001972) | 2.45809419 |
| 67 | Nausea (HP:0002018) | 2.45768942 |
| 68 | Hypoplasia of the pons (HP:0012110) | 2.45629534 |
| 69 | Microvesicular hepatic steatosis (HP:0001414) | 2.44463296 |
| 70 | Lactic acidosis (HP:0003128) | 2.43382341 |
| 71 | Acute encephalopathy (HP:0006846) | 2.42342683 |
| 72 | Generalized aminoaciduria (HP:0002909) | 2.40697587 |
| 73 | CNS demyelination (HP:0007305) | 2.39383911 |
| 74 | Proximal tubulopathy (HP:0000114) | 2.37694203 |
| 75 | Progressive microcephaly (HP:0000253) | 2.37535440 |
| 76 | Increased serum pyruvate (HP:0003542) | 2.36696255 |
| 77 | Abnormality of glycolysis (HP:0004366) | 2.36696255 |
| 78 | Rhabdomyolysis (HP:0003201) | 2.36591847 |
| 79 | Increased CSF lactate (HP:0002490) | 2.36004878 |
| 80 | Absent thumb (HP:0009777) | 2.35085705 |
| 81 | Respiratory difficulties (HP:0002880) | 2.35000006 |
| 82 | Hyperbilirubinemia (HP:0002904) | 2.34709178 |
| 83 | Cerebral hypomyelination (HP:0006808) | 2.32988003 |
| 84 | Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688) | 2.32082618 |
| 85 | Abnormality of the pons (HP:0007361) | 2.31856185 |
| 86 | Abnormality of glutamine family amino acid metabolism (HP:0010902) | 2.30902769 |
| 87 | Hypoalphalipoproteinemia (HP:0003233) | 2.27188727 |
| 88 | Malnutrition (HP:0004395) | 2.25708618 |
| 89 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 2.23691593 |
| 90 | Methylmalonic aciduria (HP:0012120) | 2.21109489 |
| 91 | Fat malabsorption (HP:0002630) | 2.19596372 |
| 92 | Abnormality of the intrinsic pathway (HP:0010989) | 2.18919293 |
| 93 | Retinal dysplasia (HP:0007973) | 2.18342684 |
| 94 | Pancytopenia (HP:0001876) | 2.17372020 |
| 95 | Pancreatic cysts (HP:0001737) | 2.14513828 |
| 96 | Mitochondrial inheritance (HP:0001427) | 2.14346323 |
| 97 | Progressive muscle weakness (HP:0003323) | 2.14094331 |
| 98 | Metabolic acidosis (HP:0001942) | 2.12788694 |
| 99 | Complement deficiency (HP:0004431) | 2.11482739 |
| 100 | Leukodystrophy (HP:0002415) | 2.11448069 |
| 101 | Colon cancer (HP:0003003) | 2.10844006 |
| 102 | Vomiting (HP:0002013) | 2.10010519 |
| 103 | Exertional dyspnea (HP:0002875) | 2.09402212 |
| 104 | Death in infancy (HP:0001522) | 2.08742952 |
| 105 | Spastic diplegia (HP:0001264) | 2.08406812 |
| 106 | Pancreatic fibrosis (HP:0100732) | 2.04933911 |
| 107 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 2.03541379 |
| 108 | Ketoacidosis (HP:0001993) | 2.00894095 |
| 109 | Congenital stationary night blindness (HP:0007642) | 2.00059461 |
| 110 | Microretrognathia (HP:0000308) | 1.99428631 |
| 111 | Meckel diverticulum (HP:0002245) | 1.99311659 |
| 112 | Selective tooth agenesis (HP:0001592) | 1.99004217 |
| 113 | Molar tooth sign on MRI (HP:0002419) | 1.98789712 |
| 114 | Abnormality of midbrain morphology (HP:0002418) | 1.98789712 |
| 115 | Horseshoe kidney (HP:0000085) | 1.95405714 |
| 116 | Abnormality of the ileum (HP:0001549) | 1.94523698 |
| 117 | Emotional lability (HP:0000712) | 1.94026485 |
| 118 | Reduced antithrombin III activity (HP:0001976) | 1.93667603 |
| 119 | Joint hemorrhage (HP:0005261) | 1.93544761 |
| 120 | Acute necrotizing encephalopathy (HP:0006965) | 1.93321930 |
| 121 | Muscle abnormality related to mitochondrial dysfunction (HP:0003800) | 1.92769276 |
| 122 | Methylmalonic acidemia (HP:0002912) | 1.91883394 |
| 123 | Type 2 muscle fiber atrophy (HP:0003554) | 1.91411192 |
| 124 | Type II lissencephaly (HP:0007260) | 1.91065805 |
| 125 | Patellar aplasia (HP:0006443) | 1.89963688 |
| 126 | Irritability (HP:0000737) | 1.89895164 |
| 127 | Cerebral palsy (HP:0100021) | 1.88899430 |
| 128 | Aplasia/Hypoplasia involving the carpal bones (HP:0006502) | 1.88472504 |
| 129 | Ragged-red muscle fibers (HP:0003200) | 1.88460373 |
| 130 | Aplastic anemia (HP:0001915) | 1.88135317 |
| 131 | Cellular immunodeficiency (HP:0005374) | 1.88036815 |
| 132 | Abnormality of renal resorption (HP:0011038) | 1.87917675 |
| 133 | Abnormal trabecular bone morphology (HP:0100671) | 1.87341268 |
| 134 | Abnormality of reticulocytes (HP:0004312) | 1.86860491 |
| 135 | Abnormality of the heme biosynthetic pathway (HP:0010472) | 1.86477064 |
| 136 | Muscle fiber atrophy (HP:0100295) | 1.85975531 |
| 137 | Opisthotonus (HP:0002179) | 1.84560486 |
| 138 | Type I transferrin isoform profile (HP:0003642) | 1.84273447 |
| 139 | Increased serum ferritin (HP:0003281) | 1.83633207 |
| 140 | Ependymoma (HP:0002888) | 1.83106742 |
| 141 | Abnormal mitochondria in muscle tissue (HP:0008316) | 1.83020110 |
| 142 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 1.82953674 |
| 143 | Trismus (HP:0000211) | 1.82821893 |
| 144 | Aplasia/Hypoplasia of the patella (HP:0006498) | 1.82728446 |
| 145 | Abnormality of purine metabolism (HP:0004352) | 1.81886224 |
| 146 | Abnormality of the common coagulation pathway (HP:0010990) | 1.81593434 |
| 147 | Impulsivity (HP:0100710) | 1.80996786 |
| 148 | Chromsome breakage (HP:0040012) | 1.80199456 |
| 149 | Cerebellar dysplasia (HP:0007033) | 1.78399752 |
| 150 | Abnormality of the preputium (HP:0100587) | 1.77795515 |
| 151 | Concave nail (HP:0001598) | 1.77553730 |
| 152 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 1.77362418 |
| 153 | Pallor (HP:0000980) | 1.77089349 |
| 154 | Sclerocornea (HP:0000647) | 1.76626235 |
| 155 | Glycosuria (HP:0003076) | 1.74172136 |
| 156 | Abnormality of urine glucose concentration (HP:0011016) | 1.74172136 |
| 157 | Aplasia/hypoplasia of the uterus (HP:0008684) | 1.73319333 |
| 158 | Abnormality of DNA repair (HP:0003254) | 1.68797458 |
| 159 | X-linked dominant inheritance (HP:0001423) | 1.68146058 |
| 160 | CNS hypomyelination (HP:0003429) | 1.67582782 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | BUB1 | 5.52619328 |
| 2 | VRK2 | 5.05052644 |
| 3 | BCKDK | 4.25280752 |
| 4 | WEE1 | 3.96620407 |
| 5 | NUAK1 | 2.88482642 |
| 6 | EPHA2 | 2.76297060 |
| 7 | ACVR1B | 2.70276023 |
| 8 | STK16 | 2.68209474 |
| 9 | EIF2AK1 | 2.61644354 |
| 10 | NME2 | 2.39636630 |
| 11 | TESK2 | 2.33948387 |
| 12 | SRPK1 | 2.31682830 |
| 13 | TSSK6 | 2.12869686 |
| 14 | PBK | 2.00518604 |
| 15 | CDC7 | 1.95828473 |
| 16 | KDR | 1.85540912 |
| 17 | TTK | 1.80353065 |
| 18 | NEK2 | 1.76061981 |
| 19 | MAP3K11 | 1.72907690 |
| 20 | PLK4 | 1.71668079 |
| 21 | BRSK2 | 1.65662198 |
| 22 | TGFBR1 | 1.64122009 |
| 23 | DYRK3 | 1.62146200 |
| 24 | MAP4K2 | 1.61722546 |
| 25 | WNK4 | 1.50334930 |
| 26 | PLK1 | 1.49234534 |
| 27 | EIF2AK3 | 1.48583981 |
| 28 | MAP3K10 | 1.47770463 |
| 29 | CDK7 | 1.43023928 |
| 30 | AURKA | 1.39157470 |
| 31 | NEK1 | 1.38082438 |
| 32 | ARAF | 1.37724930 |
| 33 | RPS6KB2 | 1.34797574 |
| 34 | TLK1 | 1.31173327 |
| 35 | LIMK1 | 1.27140265 |
| 36 | WNK3 | 1.26995767 |
| 37 | CDK19 | 1.26194017 |
| 38 | MAPK15 | 1.26136413 |
| 39 | ZAK | 1.23786017 |
| 40 | NME1 | 1.23605430 |
| 41 | BRAF | 1.23373519 |
| 42 | BMPR1B | 1.23090890 |
| 43 | AURKB | 1.22613956 |
| 44 | PAK4 | 1.21494186 |
| 45 | IRAK3 | 1.20062814 |
| 46 | GRK6 | 1.17931818 |
| 47 | VRK1 | 1.15581977 |
| 48 | TRIM28 | 1.14130002 |
| 49 | CDK8 | 1.12562587 |
| 50 | BRSK1 | 1.12057217 |
| 51 | TESK1 | 1.11604106 |
| 52 | PASK | 1.09887500 |
| 53 | PRKCI | 1.09244403 |
| 54 | MAP4K1 | 1.08969205 |
| 55 | CDK4 | 1.08057709 |
| 56 | CCNB1 | 1.07098137 |
| 57 | PINK1 | 1.07093734 |
| 58 | CHEK2 | 1.06704319 |
| 59 | PIM2 | 1.06393784 |
| 60 | CSNK1A1L | 1.05933401 |
| 61 | SCYL2 | 1.05538441 |
| 62 | ADRBK2 | 1.03386790 |
| 63 | FLT3 | 0.97685944 |
| 64 | CSNK1G2 | 0.97010313 |
| 65 | PDK3 | 0.96606007 |
| 66 | PDK4 | 0.96606007 |
| 67 | ATR | 0.91768913 |
| 68 | ERN1 | 0.89666721 |
| 69 | MAP3K8 | 0.87405090 |
| 70 | INSRR | 0.87183739 |
| 71 | TXK | 0.85519434 |
| 72 | MAP2K2 | 0.85468436 |
| 73 | TAF1 | 0.82220009 |
| 74 | GRK1 | 0.81610313 |
| 75 | ABL2 | 0.79661981 |
| 76 | MAP2K7 | 0.78619439 |
| 77 | PLK3 | 0.78355713 |
| 78 | MST4 | 0.78118529 |
| 79 | STK38L | 0.75905912 |
| 80 | PHKG2 | 0.73930981 |
| 81 | PHKG1 | 0.73930981 |
| 82 | CSNK2A2 | 0.71598831 |
| 83 | PIM1 | 0.71416976 |
| 84 | FRK | 0.71112070 |
| 85 | MAPK11 | 0.69271702 |
| 86 | CHEK1 | 0.67954280 |
| 87 | TAOK3 | 0.67415012 |
| 88 | RPS6KA4 | 0.66364321 |
| 89 | MAP2K3 | 0.63165995 |
| 90 | CSNK2A1 | 0.62578617 |
| 91 | MUSK | 0.60395701 |
| 92 | DAPK1 | 0.57542839 |
| 93 | CSNK1G1 | 0.57028736 |
| 94 | CDK2 | 0.55217256 |
| 95 | MAPKAPK5 | 0.53474939 |
| 96 | PAK1 | 0.53208280 |
| 97 | STK4 | 0.52417758 |
| 98 | AKT2 | 0.52144146 |
| 99 | TYK2 | 0.51772047 |
| 100 | MAPKAPK3 | 0.51170287 |
| 101 | PNCK | 0.50983683 |
| 102 | STK10 | 0.50982695 |
| 103 | FGFR4 | 0.50314577 |
| 104 | MAPK13 | 0.47255649 |
| 105 | AKT3 | 0.47202128 |
| 106 | PIK3CG | 0.46299132 |
| 107 | CSNK1G3 | 0.45960490 |
| 108 | RAF1 | 0.45292556 |
| 109 | MAP3K3 | 0.42805573 |
| 110 | CSNK1A1 | 0.41808707 |
| 111 | NLK | 0.41589806 |
| 112 | DAPK3 | 0.41540685 |
| 113 | OXSR1 | 0.41257183 |
| 114 | PKN2 | 0.41143031 |
| 115 | CAMKK2 | 0.38587381 |
| 116 | MAP3K4 | 0.38457713 |
| 117 | PKN1 | 0.37942578 |
| 118 | OBSCN | 0.37515597 |
| 119 | ILK | 0.36843698 |
| 120 | MKNK1 | 0.36423963 |
| 121 | MARK3 | 0.36143713 |
| 122 | CLK1 | 0.35495666 |
| 123 | SMG1 | 0.35253830 |
| 124 | CSNK1E | 0.35071797 |
| 125 | PDK2 | 0.34553498 |
| 126 | ATM | 0.34169600 |
| 127 | LRRK2 | 0.33995410 |
| 128 | IKBKB | 0.32257817 |
| 129 | LATS2 | 0.30275898 |
| 130 | RPS6KA5 | 0.29875832 |
| 131 | PRKCQ | 0.29607405 |
| 132 | BTK | 0.29428824 |
| 133 | MTOR | 0.29114992 |
| 134 | BRD4 | 0.28460892 |
| 135 | CDK6 | 0.27712837 |
| 136 | DYRK2 | 0.27248986 |
| 137 | SIK1 | 0.26932830 |
| 138 | EEF2K | 0.26388821 |
| 139 | ZAP70 | 0.25144103 |
| 140 | CDK1 | 0.24919786 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Proteasome_Homo sapiens_hsa03050 | 2.86467611 |
| 2 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 2.69589518 |
| 3 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 2.60316016 |
| 4 | Ribosome_Homo sapiens_hsa03010 | 2.58743738 |
| 5 | DNA replication_Homo sapiens_hsa03030 | 2.54138405 |
| 6 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 2.46609976 |
| 7 | Mismatch repair_Homo sapiens_hsa03430 | 2.33420521 |
| 8 | RNA polymerase_Homo sapiens_hsa03020 | 2.33105008 |
| 9 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 2.29325086 |
| 10 | One carbon pool by folate_Homo sapiens_hsa00670 | 2.20572853 |
| 11 | Sulfur relay system_Homo sapiens_hsa04122 | 2.11074718 |
| 12 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 2.09077520 |
| 13 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 2.07327782 |
| 14 | Folate biosynthesis_Homo sapiens_hsa00790 | 1.98349408 |
| 15 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 1.95677865 |
| 16 | Base excision repair_Homo sapiens_hsa03410 | 1.93018531 |
| 17 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 1.92195133 |
| 18 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.90366028 |
| 19 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 1.89447093 |
| 20 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 1.87780628 |
| 21 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 1.85340194 |
| 22 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 1.83643648 |
| 23 | Spliceosome_Homo sapiens_hsa03040 | 1.75280280 |
| 24 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.74576465 |
| 25 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 1.74002980 |
| 26 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 1.72395804 |
| 27 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.69955730 |
| 28 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.68239792 |
| 29 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 1.66311960 |
| 30 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.64664304 |
| 31 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.61210647 |
| 32 | RNA transport_Homo sapiens_hsa03013 | 1.55985791 |
| 33 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.54478239 |
| 34 | Carbon metabolism_Homo sapiens_hsa01200 | 1.54157597 |
| 35 | Peroxisome_Homo sapiens_hsa04146 | 1.52309917 |
| 36 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.49990022 |
| 37 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 1.49880149 |
| 38 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 1.49353835 |
| 39 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.36237037 |
| 40 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.34767240 |
| 41 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.34351988 |
| 42 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.31249166 |
| 43 | Homologous recombination_Homo sapiens_hsa03440 | 1.30493502 |
| 44 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 1.24203596 |
| 45 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 1.22337972 |
| 46 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 1.19019660 |
| 47 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 1.15561604 |
| 48 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.15035454 |
| 49 | Histidine metabolism_Homo sapiens_hsa00340 | 1.14525329 |
| 50 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.14019886 |
| 51 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 1.10421724 |
| 52 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 1.08363116 |
| 53 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.05245727 |
| 54 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.04454801 |
| 55 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 1.03471373 |
| 56 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.00215210 |
| 57 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.97827977 |
| 58 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.96645571 |
| 59 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.95587271 |
| 60 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 0.94537089 |
| 61 | Parkinsons disease_Homo sapiens_hsa05012 | 0.94352949 |
| 62 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.93911221 |
| 63 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.93253275 |
| 64 | Cell cycle_Homo sapiens_hsa04110 | 0.92108984 |
| 65 | RNA degradation_Homo sapiens_hsa03018 | 0.91882343 |
| 66 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.91343251 |
| 67 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.91341003 |
| 68 | Purine metabolism_Homo sapiens_hsa00230 | 0.90905997 |
| 69 | Retinol metabolism_Homo sapiens_hsa00830 | 0.87371625 |
| 70 | Galactose metabolism_Homo sapiens_hsa00052 | 0.84961039 |
| 71 | Huntingtons disease_Homo sapiens_hsa05016 | 0.82800054 |
| 72 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.82218422 |
| 73 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.82070164 |
| 74 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.80532700 |
| 75 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.78143037 |
| 76 | Metabolic pathways_Homo sapiens_hsa01100 | 0.77929005 |
| 77 | Basal transcription factors_Homo sapiens_hsa03022 | 0.77181425 |
| 78 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.76271328 |
| 79 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.71978551 |
| 80 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.71958737 |
| 81 | Phototransduction_Homo sapiens_hsa04744 | 0.70670283 |
| 82 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.66741002 |
| 83 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.65873307 |
| 84 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.65606928 |
| 85 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.61249829 |
| 86 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.57250716 |
| 87 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.57163949 |
| 88 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.52456096 |
| 89 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.50874396 |
| 90 | Bile secretion_Homo sapiens_hsa04976 | 0.50566962 |
| 91 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.49241687 |
| 92 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.49068647 |
| 93 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.49042136 |
| 94 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.49038305 |
| 95 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.47963114 |
| 96 | Protein export_Homo sapiens_hsa03060 | 0.44667413 |
| 97 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.43409183 |
| 98 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 0.41341896 |
| 99 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.40908607 |
| 100 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.40006684 |
| 101 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.38932814 |
| 102 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.38342454 |
| 103 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.37390106 |
| 104 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.36669127 |
| 105 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.36378253 |
| 106 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 0.36032853 |
| 107 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.35726122 |
| 108 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.33482905 |
| 109 | Alzheimers disease_Homo sapiens_hsa05010 | 0.33345615 |
| 110 | ABC transporters_Homo sapiens_hsa02010 | 0.32944388 |
| 111 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.32866644 |
| 112 | Lysine degradation_Homo sapiens_hsa00310 | 0.31801095 |
| 113 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.31767152 |
| 114 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.29291943 |
| 115 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.27715594 |
| 116 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.26182493 |
| 117 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 0.24193697 |
| 118 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.22619442 |

