

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | DNA deamination (GO:0045006) | 6.69059265 |
| 2 | telomere maintenance via semi-conservative replication (GO:0032201) | 5.15960693 |
| 3 | DNA strand elongation involved in DNA replication (GO:0006271) | 4.66162635 |
| 4 | telomere maintenance via recombination (GO:0000722) | 4.58521547 |
| 5 | DNA replication initiation (GO:0006270) | 4.58406932 |
| 6 | DNA strand elongation (GO:0022616) | 4.42711078 |
| 7 | proteasome assembly (GO:0043248) | 4.31378143 |
| 8 | ribosomal small subunit assembly (GO:0000028) | 4.30343461 |
| 9 | tricarboxylic acid cycle (GO:0006099) | 4.27033762 |
| 10 | establishment of integrated proviral latency (GO:0075713) | 4.17793711 |
| 11 | DNA replication checkpoint (GO:0000076) | 4.17026044 |
| 12 | mitotic recombination (GO:0006312) | 3.93584788 |
| 13 | telomere maintenance via telomere lengthening (GO:0010833) | 3.89191268 |
| 14 | cullin deneddylation (GO:0010388) | 3.84353852 |
| 15 | pseudouridine synthesis (GO:0001522) | 3.79223353 |
| 16 | pyrimidine deoxyribonucleotide catabolic process (GO:0009223) | 3.73253130 |
| 17 | DNA double-strand break processing (GO:0000729) | 3.67360683 |
| 18 | maturation of SSU-rRNA (GO:0030490) | 3.66530604 |
| 19 | ribosome assembly (GO:0042255) | 3.65697517 |
| 20 | viral transcription (GO:0019083) | 3.65475972 |
| 21 | L-methionine biosynthetic process from methylthioadenosine (GO:0019509) | 3.61710761 |
| 22 | tRNA aminoacylation for protein translation (GO:0006418) | 3.59432185 |
| 23 | ubiquinone biosynthetic process (GO:0006744) | 3.58914075 |
| 24 | quinone biosynthetic process (GO:1901663) | 3.58914075 |
| 25 | translational termination (GO:0006415) | 3.57939109 |
| 26 | amino acid activation (GO:0043038) | 3.57525151 |
| 27 | tRNA aminoacylation (GO:0043039) | 3.57525151 |
| 28 | transcription elongation from RNA polymerase III promoter (GO:0006385) | 3.52170849 |
| 29 | termination of RNA polymerase III transcription (GO:0006386) | 3.52170849 |
| 30 | CENP-A containing nucleosome assembly (GO:0034080) | 3.40485792 |
| 31 | deoxyribonucleoside monophosphate metabolic process (GO:0009162) | 3.40463627 |
| 32 | non-recombinational repair (GO:0000726) | 3.39679064 |
| 33 | double-strand break repair via nonhomologous end joining (GO:0006303) | 3.39679064 |
| 34 | mitochondrial respiratory chain complex I assembly (GO:0032981) | 3.37563741 |
| 35 | NADH dehydrogenase complex assembly (GO:0010257) | 3.37563741 |
| 36 | mitochondrial respiratory chain complex I biogenesis (GO:0097031) | 3.37563741 |
| 37 | establishment of viral latency (GO:0019043) | 3.36676049 |
| 38 | branched-chain amino acid catabolic process (GO:0009083) | 3.34275899 |
| 39 | ribosomal large subunit biogenesis (GO:0042273) | 3.34106528 |
| 40 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 3.33804803 |
| 41 | nucleotide-excision repair, DNA gap filling (GO:0006297) | 3.32689108 |
| 42 | oxidative phosphorylation (GO:0006119) | 3.32535694 |
| 43 | rRNA modification (GO:0000154) | 3.32001577 |
| 44 | regulation of cellular amino acid metabolic process (GO:0006521) | 3.31856527 |
| 45 | * cytochrome complex assembly (GO:0017004) | 3.31670600 |
| 46 | regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510) | 3.31391122 |
| 47 | iron-sulfur cluster assembly (GO:0016226) | 3.31294902 |
| 48 | metallo-sulfur cluster assembly (GO:0031163) | 3.31294902 |
| 49 | DNA ligation (GO:0006266) | 3.30058359 |
| 50 | establishment of protein localization to mitochondrial membrane (GO:0090151) | 3.29871161 |
| 51 | maturation of 5.8S rRNA (GO:0000460) | 3.29314714 |
| 52 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00 | 3.28803850 |
| 53 | mitotic metaphase plate congression (GO:0007080) | 3.27739143 |
| 54 | chromatin remodeling at centromere (GO:0031055) | 3.26409060 |
| 55 | translational elongation (GO:0006414) | 3.25605355 |
| 56 | signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431) | 3.24384114 |
| 57 | intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400) | 3.24384114 |
| 58 | signal transduction involved in mitotic DNA damage checkpoint (GO:1902402) | 3.24165745 |
| 59 | signal transduction involved in mitotic cell cycle checkpoint (GO:0072413) | 3.24165745 |
| 60 | signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403) | 3.24165745 |
| 61 | pyrimidine nucleotide catabolic process (GO:0006244) | 3.22865786 |
| 62 | regulation of cofactor metabolic process (GO:0051193) | 3.21976270 |
| 63 | regulation of coenzyme metabolic process (GO:0051196) | 3.21976270 |
| 64 | ribosomal small subunit biogenesis (GO:0042274) | 3.21965283 |
| 65 | transcription-coupled nucleotide-excision repair (GO:0006283) | 3.18915393 |
| 66 | nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291) | 3.18442001 |
| 67 | GDP-mannose metabolic process (GO:0019673) | 3.18278079 |
| 68 | DNA catabolic process, exonucleolytic (GO:0000738) | 3.16865456 |
| 69 | 7-methylguanosine mRNA capping (GO:0006370) | 3.16389425 |
| 70 | IMP biosynthetic process (GO:0006188) | 3.15461598 |
| 71 | positive regulation of ubiquitin-protein transferase activity (GO:0051443) | 3.15183056 |
| 72 | SRP-dependent cotranslational protein targeting to membrane (GO:0006614) | 3.14958352 |
| 73 | muscle filament sliding (GO:0030049) | 3.14483307 |
| 74 | actin-myosin filament sliding (GO:0033275) | 3.14483307 |
| 75 | RNA capping (GO:0036260) | 3.12864535 |
| 76 | 7-methylguanosine RNA capping (GO:0009452) | 3.12864535 |
| 77 | signal transduction involved in DNA integrity checkpoint (GO:0072401) | 3.12084409 |
| 78 | signal transduction involved in DNA damage checkpoint (GO:0072422) | 3.12084409 |
| 79 | translational initiation (GO:0006413) | 3.10175657 |
| 80 | IMP metabolic process (GO:0046040) | 3.09883670 |
| 81 | regulation of acyl-CoA biosynthetic process (GO:0050812) | 3.09636137 |
| 82 | signal transduction involved in cell cycle checkpoint (GO:0072395) | 3.07704061 |
| 83 | ribonucleoprotein complex biogenesis (GO:0022613) | 3.07034793 |
| 84 | protein complex biogenesis (GO:0070271) | 3.06518215 |
| 85 | spliceosomal snRNP assembly (GO:0000387) | 3.05589954 |
| 86 | histone exchange (GO:0043486) | 3.05458605 |
| 87 | cotranslational protein targeting to membrane (GO:0006613) | 3.04768745 |
| 88 | regulation of mitochondrial translation (GO:0070129) | 3.03642184 |
| 89 | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436) | 3.03288014 |
| 90 | positive regulation of ligase activity (GO:0051351) | 3.03256460 |
| 91 | protein targeting to mitochondrion (GO:0006626) | 3.02955010 |
| 92 | mitochondrial electron transport, NADH to ubiquinone (GO:0006120) | 3.02352453 |
| 93 | mitochondrial RNA metabolic process (GO:0000959) | 3.01885081 |
| 94 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0 | 3.01760342 |
| 95 | protein targeting to ER (GO:0045047) | 3.01319329 |
| 96 | kinetochore assembly (GO:0051382) | 3.01237349 |
| 97 | ubiquinone metabolic process (GO:0006743) | 2.99817356 |
| 98 | chaperone-mediated protein transport (GO:0072321) | 2.99775068 |
| 99 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 2.98597008 |
| 100 | transcription from mitochondrial promoter (GO:0006390) | 2.98528203 |
| 101 | regulation of ubiquitin-protein transferase activity (GO:0051438) | 2.98089008 |
| 102 | regulation of double-strand break repair via homologous recombination (GO:0010569) | 2.94816964 |
| 103 | regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083) | 2.94102685 |
| 104 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) | 2.93771029 |
| 105 | ribosome biogenesis (GO:0042254) | 2.93516248 |
| 106 | viral mRNA export from host cell nucleus (GO:0046784) | 2.93176872 |
| 107 | protein deneddylation (GO:0000338) | 2.92583242 |
| 108 | negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244) | 2.92397332 |
| 109 | negative regulation of DNA-templated transcription, elongation (GO:0032785) | 2.92397332 |
| 110 | rRNA processing (GO:0006364) | 2.91826913 |
| 111 | translation (GO:0006412) | 2.91141524 |
| 112 | histone H2A acetylation (GO:0043968) | 2.90419806 |
| 113 | mitochondrial respiratory chain complex assembly (GO:0033108) | 2.90215300 |
| 114 | pyrimidine deoxyribonucleotide metabolic process (GO:0009219) | 2.89710257 |
| 115 | * respiratory chain complex IV assembly (GO:0008535) | 2.88879891 |
| 116 | regulation of ligase activity (GO:0051340) | 2.88744615 |
| 117 | protein localization to endoplasmic reticulum (GO:0070972) | 2.88124318 |
| 118 | purine nucleobase biosynthetic process (GO:0009113) | 2.87102979 |
| 119 | cellular component biogenesis (GO:0044085) | 2.85977727 |
| 120 | heart contraction (GO:0060047) | 2.85606951 |
| 121 | heart process (GO:0003015) | 2.85606951 |
| 122 | mitotic spindle checkpoint (GO:0071174) | 2.85199268 |
| 123 | protein K6-linked ubiquitination (GO:0085020) | 2.85119733 |
| 124 | ATP synthesis coupled proton transport (GO:0015986) | 2.85099950 |
| 125 | energy coupled proton transport, down electrochemical gradient (GO:0015985) | 2.85099950 |
| 126 | establishment of protein localization to endoplasmic reticulum (GO:0072599) | 2.84437255 |
| 127 | tRNA methylation (GO:0030488) | 2.84028352 |
| 128 | spindle checkpoint (GO:0031577) | 2.82814758 |
| 129 | protein localization to kinetochore (GO:0034501) | 2.82785394 |
| 130 | positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437) | 2.82690337 |
| 131 | regulation of cellular respiration (GO:0043457) | 2.82606276 |
| 132 | mitochondrial DNA replication (GO:0006264) | 2.82130609 |
| 133 | rRNA metabolic process (GO:0016072) | 2.81561159 |
| 134 | negative regulation of myotube differentiation (GO:0010832) | 2.81217092 |
| 135 | DNA-dependent DNA replication (GO:0006261) | 2.80294949 |
| 136 | establishment of chromosome localization (GO:0051303) | 2.79903710 |
| 137 | DNA replication-independent nucleosome organization (GO:0034724) | 2.79688498 |
| 138 | DNA replication-independent nucleosome assembly (GO:0006336) | 2.79688498 |
| 139 | replication fork processing (GO:0031297) | 2.78080856 |
| 140 | rRNA methylation (GO:0031167) | 2.77821247 |
| 141 | nucleobase biosynthetic process (GO:0046112) | 2.77544287 |
| 142 | establishment of protein localization to mitochondrion (GO:0072655) | 2.77446207 |
| 143 | * respiratory electron transport chain (GO:0022904) | 2.76547597 |
| 144 | methionine biosynthetic process (GO:0009086) | 2.75945537 |
| 145 | L-methionine biosynthetic process (GO:0071265) | 2.75212332 |
| 146 | amino acid salvage (GO:0043102) | 2.75212332 |
| 147 | L-methionine salvage (GO:0071267) | 2.75212332 |
| 148 | mitotic nuclear envelope disassembly (GO:0007077) | 2.75197815 |
| 149 | protein localization to mitochondrion (GO:0070585) | 2.75066128 |
| 150 | metaphase plate congression (GO:0051310) | 2.73665123 |
| 151 | RNA methylation (GO:0001510) | 2.71539719 |
| 152 | attachment of spindle microtubules to kinetochore (GO:0008608) | 2.71463101 |
| 153 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184) | 2.71013813 |
| 154 | negative regulation of ligase activity (GO:0051352) | 2.70044675 |
| 155 | negative regulation of ubiquitin-protein transferase activity (GO:0051444) | 2.70044675 |
| 156 | base-excision repair, AP site formation (GO:0006285) | 2.69666893 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | E2F7_22180533_ChIP-Seq_HELA_Human | 5.97265424 |
| 2 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 4.09337448 |
| 3 | * MYC_18555785_ChIP-Seq_MESCs_Mouse | 3.95850963 |
| 4 | * JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 3.80661734 |
| 5 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 3.72481977 |
| 6 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 3.44262461 |
| 7 | * GABP_17652178_ChIP-ChIP_JURKAT_Human | 3.44018790 |
| 8 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 3.27809182 |
| 9 | * EST1_17652178_ChIP-ChIP_JURKAT_Human | 3.24174754 |
| 10 | * MYC_18358816_ChIP-ChIP_MESCs_Mouse | 3.13860041 |
| 11 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 3.04717206 |
| 12 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 2.80200540 |
| 13 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 2.75473224 |
| 14 | * MYC_19030024_ChIP-ChIP_MESCs_Mouse | 2.66651358 |
| 15 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 2.66467368 |
| 16 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 2.56243842 |
| 17 | SRF_21415370_ChIP-Seq_HL-1_Mouse | 2.50632533 |
| 18 | VDR_23849224_ChIP-Seq_CD4+_Human | 2.46129255 |
| 19 | * SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse | 2.39277940 |
| 20 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 2.35118618 |
| 21 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 2.32539004 |
| 22 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 2.28296691 |
| 23 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 2.22970970 |
| 24 | * YY1_21170310_ChIP-Seq_MESCs_Mouse | 2.22295875 |
| 25 | FOXP3_21729870_ChIP-Seq_TREG_Human | 2.18298709 |
| 26 | DCP1A_22483619_ChIP-Seq_HELA_Human | 2.13413335 |
| 27 | FLI1_20887958_ChIP-Seq_HPC-7_Mouse | 2.12693233 |
| 28 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 2.12113958 |
| 29 | E2F1_18555785_ChIP-Seq_MESCs_Mouse | 2.11489694 |
| 30 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.10377752 |
| 31 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 2.07695068 |
| 32 | * GABP_19822575_ChIP-Seq_HepG2_Human | 2.03159854 |
| 33 | XRN2_22483619_ChIP-Seq_HELA_Human | 2.02682858 |
| 34 | NOTCH1_21737748_ChIP-Seq_TLL_Human | 1.98715497 |
| 35 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.98130370 |
| 36 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 1.94448014 |
| 37 | * FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 1.93088462 |
| 38 | * KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 1.91112387 |
| 39 | TAL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.87351005 |
| 40 | PADI4_21655091_ChIP-ChIP_MCF-7_Human | 1.86636307 |
| 41 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 1.86369809 |
| 42 | CIITA_25753668_ChIP-Seq_RAJI_Human | 1.84354235 |
| 43 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 1.82993441 |
| 44 | HOXB4_20404135_ChIP-ChIP_EML_Mouse | 1.81479374 |
| 45 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.77881836 |
| 46 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.74373614 |
| 47 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.74088236 |
| 48 | ERG_20887958_ChIP-Seq_HPC-7_Mouse | 1.67553860 |
| 49 | SFPI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.62712111 |
| 50 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 1.61330805 |
| 51 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 1.59197076 |
| 52 | * CEBPB_24764292_ChIP-Seq_MC3T3_Mouse | 1.58990478 |
| 53 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.54115736 |
| 54 | NANOG_18555785_ChIP-Seq_MESCs_Mouse | 1.50731839 |
| 55 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.44749436 |
| 56 | ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.42114172 |
| 57 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.39579556 |
| 58 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.38769908 |
| 59 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 1.38648846 |
| 60 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 1.36844146 |
| 61 | * YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.36242778 |
| 62 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.35401588 |
| 63 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.33972132 |
| 64 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.33574631 |
| 65 | RUNX1_20887958_ChIP-Seq_HPC-7_Mouse | 1.32267217 |
| 66 | PRDM5_23873026_ChIP-Seq_MEFs_Mouse | 1.28766622 |
| 67 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.27413104 |
| 68 | MYC_22102868_ChIP-Seq_BL_Human | 1.27311676 |
| 69 | HNF4A_19761587_ChIP-ChIP_CACO-2_Human | 1.27282116 |
| 70 | SPI1_23547873_ChIP-Seq_NB4_Human | 1.26344736 |
| 71 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.25729231 |
| 72 | BCL3_23251550_ChIP-Seq_MUSCLE_Mouse | 1.24798002 |
| 73 | ELK1_19687146_ChIP-ChIP_HELA_Human | 1.24735322 |
| 74 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 1.20907893 |
| 75 | VDR_21846776_ChIP-Seq_THP-1_Human | 1.20411496 |
| 76 | LYL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.16190773 |
| 77 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.16100263 |
| 78 | GFI1B_20887958_ChIP-Seq_HPC-7_Mouse | 1.15581027 |
| 79 | TFEB_21752829_ChIP-Seq_HELA_Human | 1.13279727 |
| 80 | * SPI1_22096565_ChIP-ChIP_GC-B_Mouse | 1.11814979 |
| 81 | POU5F1_18358816_ChIP-ChIP_MESCs_Mouse | 1.11209933 |
| 82 | MEIS1_20887958_ChIP-Seq_HPC-7_Mouse | 1.07134408 |
| 83 | CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 1.07013279 |
| 84 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.06880923 |
| 85 | * E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human | 1.04994076 |
| 86 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.04463628 |
| 87 | ASXL1_24218140_ChIP-Seq_BMDM_Mouse | 1.04031531 |
| 88 | NANOG_16153702_ChIP-ChIP_HESCs_Human | 1.01567530 |
| 89 | KDM5A_27292631_Chip-Seq_BREAST_Human | 0.99410269 |
| 90 | FUS_26573619_Chip-Seq_HEK293_Human | 0.99018013 |
| 91 | MECOM_23826213_ChIP-Seq_KASUMI_Mouse | 0.98862680 |
| 92 | SIN3A_21632747_ChIP-Seq_MESCs_Mouse | 0.97911853 |
| 93 | EWS_26573619_Chip-Seq_HEK293_Human | 0.97260579 |
| 94 | * ASH2L_23239880_ChIP-Seq_MESCs_Mouse | 0.97098335 |
| 95 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 0.96245369 |
| 96 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 0.95902677 |
| 97 | SOX17_20123909_ChIP-Seq_XEN_Mouse | 0.95823368 |
| 98 | CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human | 0.95224408 |
| 99 | MYB_21317192_ChIP-Seq_ERMYB_Mouse | 0.95179542 |
| 100 | * FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 0.93272775 |
| 101 | DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 0.93067298 |
| 102 | SCL_19346495_ChIP-Seq_HPC-7_Human | 0.92443800 |
| 103 | GATA1_22383799_ChIP-Seq_G1ME_Mouse | 0.91373299 |
| 104 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 0.89677833 |
| 105 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 0.89511755 |
| 106 | * ELK1_22589737_ChIP-Seq_MCF10A_Human | 0.88470069 |
| 107 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 0.87186609 |
| 108 | CTCF_18555785_ChIP-Seq_MESCs_Mouse | 0.87139841 |
| 109 | * PU.1_20513432_ChIP-Seq_Bcells_Mouse | 0.85543898 |
| 110 | KLF4_18555785_ChIP-Seq_MESCs_Mouse | 0.85539247 |
| 111 | IRF8_22096565_ChIP-ChIP_GC-B_Mouse | 0.85505912 |
| 112 | * ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 0.85165026 |
| 113 | CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse | 0.83500457 |
| 114 | TBX5_21415370_ChIP-Seq_HL-1_Mouse | 0.82317952 |
| 115 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 0.81215081 |
| 116 | CNOT3_19339689_ChIP-ChIP_MESCs_Mouse | 0.80674328 |
| 117 | GATA4_21415370_ChIP-Seq_HL-1_Mouse | 0.80060867 |
| 118 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 0.79400120 |
| 119 | CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat | 0.79091170 |
| 120 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 0.78482118 |
| 121 | LMO2_20887958_ChIP-Seq_HPC-7_Mouse | 0.78094253 |
| 122 | IGF1R_20145208_ChIP-Seq_DFB_Human | 0.77490750 |
| 123 | VDR_22108803_ChIP-Seq_LS180_Human | 0.77085300 |
| 124 | SOX2_18555785_ChIP-Seq_MESCs_Mouse | 0.72653780 |
| 125 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.71651049 |
| 126 | SOX2_16153702_ChIP-ChIP_HESCs_Human | 0.68280611 |
| 127 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 0.67280344 |
| 128 | HTT_18923047_ChIP-ChIP_STHdh_Human | 0.66777064 |
| 129 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 0.66616374 |
| 130 | ELF5_23300383_ChIP-Seq_T47D_Human | 0.66112574 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003693_abnormal_embryo_hatching | 4.25190824 |
| 2 | * MP0003646_muscle_fatigue | 3.86628167 |
| 3 | MP0009379_abnormal_foot_pigmentation | 3.33991452 |
| 4 | MP0010094_abnormal_chromosome_stability | 3.03126010 |
| 5 | MP0004957_abnormal_blastocyst_morpholog | 2.62322209 |
| 6 | MP0003111_abnormal_nucleus_morphology | 2.60413759 |
| 7 | MP0008058_abnormal_DNA_repair | 2.53190277 |
| 8 | MP0006292_abnormal_olfactory_placode | 2.51626531 |
| 9 | MP0003077_abnormal_cell_cycle | 2.50952326 |
| 10 | MP0003718_maternal_effect | 2.41431466 |
| 11 | MP0008260_abnormal_autophagy | 2.35963164 |
| 12 | MP0000015_abnormal_ear_pigmentation | 2.26114908 |
| 13 | MP0002396_abnormal_hematopoietic_system | 2.18827510 |
| 14 | MP0004215_abnormal_myocardial_fiber | 2.14065141 |
| 15 | MP0000749_muscle_degeneration | 2.12503551 |
| 16 | MP0005451_abnormal_body_composition | 2.11580680 |
| 17 | MP0006036_abnormal_mitochondrial_physio | 2.10267441 |
| 18 | MP0004084_abnormal_cardiac_muscle | 2.09308219 |
| 19 | MP0004233_abnormal_muscle_weight | 2.07230710 |
| 20 | MP0002837_dystrophic_cardiac_calcinosis | 2.05704478 |
| 21 | MP0003763_abnormal_thymus_physiology | 1.99300395 |
| 22 | MP0000490_abnormal_crypts_of | 1.97977106 |
| 23 | MP0005174_abnormal_tail_pigmentation | 1.94693743 |
| 24 | MP0008007_abnormal_cellular_replicative | 1.92707994 |
| 25 | MP0009333_abnormal_splenocyte_physiolog | 1.87113094 |
| 26 | MP0003950_abnormal_plasma_membrane | 1.83896265 |
| 27 | MP0001188_hyperpigmentation | 1.82675038 |
| 28 | MP0005408_hypopigmentation | 1.81971652 |
| 29 | MP0001529_abnormal_vocalization | 1.75955465 |
| 30 | MP0008932_abnormal_embryonic_tissue | 1.72117239 |
| 31 | MP0001853_heart_inflammation | 1.70202920 |
| 32 | MP0003941_abnormal_skin_development | 1.65049833 |
| 33 | MP0005075_abnormal_melanosome_morpholog | 1.64795907 |
| 34 | MP0008057_abnormal_DNA_replication | 1.60296509 |
| 35 | MP0002090_abnormal_vision | 1.56400443 |
| 36 | MP0004145_abnormal_muscle_electrophysio | 1.56295949 |
| 37 | MP0004036_abnormal_muscle_relaxation | 1.56115130 |
| 38 | MP0003786_premature_aging | 1.54648619 |
| 39 | MP0000747_muscle_weakness | 1.54217870 |
| 40 | MP0003221_abnormal_cardiomyocyte_apopto | 1.54049287 |
| 41 | MP0005330_cardiomyopathy | 1.53968215 |
| 42 | MP0002102_abnormal_ear_morphology | 1.48921566 |
| 43 | MP0002095_abnormal_skin_pigmentation | 1.45786982 |
| 44 | MP0005409_darkened_coat_color | 1.44955352 |
| 45 | MP0003828_pulmonary_edema | 1.44347594 |
| 46 | MP0009697_abnormal_copulation | 1.41962479 |
| 47 | MP0003136_yellow_coat_color | 1.38733306 |
| 48 | MP0008877_abnormal_DNA_methylation | 1.37986838 |
| 49 | MP0001986_abnormal_taste_sensitivity | 1.37847121 |
| 50 | MP0003567_abnormal_fetal_cardiomyocyte | 1.37533398 |
| 51 | MP0005645_abnormal_hypothalamus_physiol | 1.36493513 |
| 52 | MP0002638_abnormal_pupillary_reflex | 1.33145108 |
| 53 | MP0003315_abnormal_perineum_morphology | 1.26321691 |
| 54 | MP0008789_abnormal_olfactory_epithelium | 1.25643442 |
| 55 | MP0001661_extended_life_span | 1.22958403 |
| 56 | MP0001730_embryonic_growth_arrest | 1.22225205 |
| 57 | MP0006035_abnormal_mitochondrial_morpho | 1.21729592 |
| 58 | * MP0005369_muscle_phenotype | 1.20324104 |
| 59 | * MP0000759_abnormal_skeletal_muscle | 1.19642250 |
| 60 | MP0002210_abnormal_sex_determination | 1.17351224 |
| 61 | MP0001119_abnormal_female_reproductive | 1.17293022 |
| 62 | MP0001764_abnormal_homeostasis | 1.15833871 |
| 63 | MP0002938_white_spotting | 1.15391927 |
| 64 | MP0003137_abnormal_impulse_conducting | 1.15008447 |
| 65 | * MP0002106_abnormal_muscle_physiology | 1.14942420 |
| 66 | MP0000750_abnormal_muscle_regeneration | 1.14899260 |
| 67 | MP0003186_abnormal_redox_activity | 1.14878925 |
| 68 | MP0004484_altered_response_of | 1.12101932 |
| 69 | MP0008995_early_reproductive_senescence | 1.10615518 |
| 70 | * MP0000751_myopathy | 1.08577494 |
| 71 | MP0002019_abnormal_tumor_incidence | 1.08376875 |
| 72 | MP0000372_irregular_coat_pigmentation | 1.07679116 |
| 73 | MP0001697_abnormal_embryo_size | 1.07425816 |
| 74 | MP0002398_abnormal_bone_marrow | 1.07095590 |
| 75 | MP0001544_abnormal_cardiovascular_syste | 1.04908844 |
| 76 | MP0005385_cardiovascular_system_phenoty | 1.04908844 |
| 77 | MP0003724_increased_susceptibility_to | 1.04344902 |
| 78 | MP0002972_abnormal_cardiac_muscle | 1.04089428 |
| 79 | MP0002127_abnormal_cardiovascular_syste | 1.03731586 |
| 80 | MP0003806_abnormal_nucleotide_metabolis | 1.00798224 |
| 81 | MP0009785_altered_susceptibility_to | 0.99336675 |
| 82 | MP0003879_abnormal_hair_cell | 0.99328471 |
| 83 | MP0000678_abnormal_parathyroid_gland | 0.98520018 |
| 84 | MP0001929_abnormal_gametogenesis | 0.98283547 |
| 85 | MP0000689_abnormal_spleen_morphology | 0.97857769 |
| 86 | MP0005395_other_phenotype | 0.97809799 |
| 87 | MP0000343_altered_response_to | 0.97792422 |
| 88 | MP0005380_embryogenesis_phenotype | 0.97523213 |
| 89 | MP0001672_abnormal_embryogenesis/_devel | 0.97523213 |
| 90 | MP0005410_abnormal_fertilization | 0.96906702 |
| 91 | MP0005266_abnormal_metabolism | 0.95574622 |
| 92 | MP0004147_increased_porphyrin_level | 0.95315466 |
| 93 | MP0001835_abnormal_antigen_presentation | 0.93317797 |
| 94 | MP0002080_prenatal_lethality | 0.92608770 |
| 95 | MP0000313_abnormal_cell_death | 0.91572885 |
| 96 | MP0005671_abnormal_response_to | 0.91527938 |
| 97 | MP0002722_abnormal_immune_system | 0.91313302 |
| 98 | MP0005670_abnormal_white_adipose | 0.91095674 |
| 99 | MP0005332_abnormal_amino_acid | 0.91036371 |
| 100 | MP0000653_abnormal_sex_gland | 0.90668132 |
| 101 | MP0008775_abnormal_heart_ventricle | 0.90212577 |
| 102 | MP0002269_muscular_atrophy | 0.90051970 |
| 103 | * MP0004087_abnormal_muscle_fiber | 0.89547968 |
| 104 | MP0002332_abnormal_exercise_endurance | 0.89462847 |
| 105 | MP0005253_abnormal_eye_physiology | 0.88526942 |
| 106 | MP0002160_abnormal_reproductive_system | 0.88440199 |
| 107 | MP0005397_hematopoietic_system_phenotyp | 0.88194207 |
| 108 | MP0001545_abnormal_hematopoietic_system | 0.88194207 |
| 109 | MP0002132_abnormal_respiratory_system | 0.87488079 |
| 110 | MP0000049_abnormal_middle_ear | 0.87472919 |
| 111 | MP0004381_abnormal_hair_follicle | 0.87377921 |
| 112 | MP0001984_abnormal_olfaction | 0.87311554 |
| 113 | MP0000358_abnormal_cell_content/ | 0.87166855 |
| 114 | MP0002163_abnormal_gland_morphology | 0.85481235 |
| 115 | MP0005620_abnormal_muscle_contractility | 0.84518553 |
| 116 | MP0002429_abnormal_blood_cell | 0.83502257 |
| 117 | MP0009672_abnormal_birth_weight | 0.82654878 |
| 118 | MP0004808_abnormal_hematopoietic_stem | 0.82404016 |
| 119 | MP0010630_abnormal_cardiac_muscle | 0.81827526 |
| 120 | MP0003699_abnormal_female_reproductive | 0.81596693 |
| 121 | MP0000703_abnormal_thymus_morphology | 0.80549900 |
| 122 | MP0003984_embryonic_growth_retardation | 0.80173776 |
| 123 | MP0001145_abnormal_male_reproductive | 0.80156646 |
| 124 | MP0000716_abnormal_immune_system | 0.79514182 |
| 125 | MP0000350_abnormal_cell_proliferation | 0.78987071 |
| 126 | MP0002088_abnormal_embryonic_growth/wei | 0.78893898 |
| 127 | MP0002148_abnormal_hypersensitivity_rea | 0.78419263 |
| 128 | MP0006138_congestive_heart_failure | 0.77454730 |
| 129 | MP0005025_abnormal_response_to | 0.77145625 |
| 130 | MP0002420_abnormal_adaptive_immunity | 0.77094196 |
| 131 | MP0001819_abnormal_immune_cell | 0.75462057 |
| 132 | MP0002085_abnormal_embryonic_tissue | 0.74112829 |
| 133 | MP0005248_abnormal_Harderian_gland | 0.73587551 |
| 134 | MP0001324_abnormal_eye_pigmentation | 0.70693420 |
| 135 | MP0003698_abnormal_male_reproductive | 0.68745150 |
| 136 | MP0003656_abnormal_erythrocyte_physiolo | 0.68502199 |
| 137 | MP0004197_abnormal_fetal_growth/weight/ | 0.68402367 |
| 138 | MP0001346_abnormal_lacrimal_gland | 0.67866705 |
| 139 | MP0000579_abnormal_nail_morphology | 0.66732680 |
| 140 | MP0005367_renal/urinary_system_phenotyp | 0.66088670 |
| 141 | MP0000516_abnormal_urinary_system | 0.66088670 |
| 142 | MP0003937_abnormal_limbs/digits/tail_de | 0.62765210 |
| 143 | MP0003121_genomic_imprinting | 0.62203446 |
| 144 | MP0006072_abnormal_retinal_apoptosis | 0.61384719 |
| 145 | MP0002254_reproductive_system_inflammat | 0.61042584 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Type I transferrin isoform profile (HP:0003642) | 5.44403573 |
| 2 | Reduced antithrombin III activity (HP:0001976) | 5.23975044 |
| 3 | Muscle fiber inclusion bodies (HP:0100299) | 4.98049544 |
| 4 | Nemaline bodies (HP:0003798) | 4.94010395 |
| 5 | Muscle fiber cytoplasmatic inclusion bodies (HP:0100303) | 4.87219712 |
| 6 | Exercise-induced muscle cramps (HP:0003710) | 4.53366817 |
| 7 | * Hepatocellular necrosis (HP:0001404) | 3.87546070 |
| 8 | * Hepatic necrosis (HP:0002605) | 3.76741140 |
| 9 | Acute necrotizing encephalopathy (HP:0006965) | 3.73737622 |
| 10 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 3.70433394 |
| 11 | Abnormal protein N-linked glycosylation (HP:0012347) | 3.70433394 |
| 12 | Abnormal protein glycosylation (HP:0012346) | 3.70433394 |
| 13 | Abnormal glycosylation (HP:0012345) | 3.70433394 |
| 14 | Abnormal mitochondria in muscle tissue (HP:0008316) | 3.60812575 |
| 15 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 3.60213171 |
| 16 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 3.60213171 |
| 17 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 3.59945706 |
| 18 | Abnormality of alanine metabolism (HP:0010916) | 3.59945706 |
| 19 | Hyperalaninemia (HP:0003348) | 3.59945706 |
| 20 | Abnormal number of erythroid precursors (HP:0012131) | 3.58036149 |
| 21 | * Mitochondrial inheritance (HP:0001427) | 3.53106959 |
| 22 | Abnormality of cells of the erythroid lineage (HP:0012130) | 3.47258997 |
| 23 | Birth length less than 3rd percentile (HP:0003561) | 3.44592582 |
| 24 | * Increased CSF lactate (HP:0002490) | 3.41696993 |
| 25 | Abnormality of glycolysis (HP:0004366) | 3.24032115 |
| 26 | * Increased serum lactate (HP:0002151) | 3.10333698 |
| 27 | Aplastic anemia (HP:0001915) | 3.08370167 |
| 28 | Reticulocytopenia (HP:0001896) | 3.08000843 |
| 29 | Increased serum pyruvate (HP:0003542) | 3.04095944 |
| 30 | * Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688) | 3.03921720 |
| 31 | Acute encephalopathy (HP:0006846) | 3.03073411 |
| 32 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 2.99292320 |
| 33 | Type 2 muscle fiber atrophy (HP:0003554) | 2.90960815 |
| 34 | Muscle fiber atrophy (HP:0100295) | 2.90129988 |
| 35 | * Muscle abnormality related to mitochondrial dysfunction (HP:0003800) | 2.89038498 |
| 36 | Exercise-induced myalgia (HP:0003738) | 2.86252978 |
| 37 | * Lactic acidosis (HP:0003128) | 2.81181362 |
| 38 | Ventricular tachycardia (HP:0004756) | 2.77073443 |
| 39 | Progressive macrocephaly (HP:0004481) | 2.76900960 |
| 40 | Abnormality of the labia minora (HP:0012880) | 2.69450430 |
| 41 | 3-Methylglutaconic aciduria (HP:0003535) | 2.67560059 |
| 42 | * Exercise intolerance (HP:0003546) | 2.66607499 |
| 43 | EMG: myopathic abnormalities (HP:0003458) | 2.66270632 |
| 44 | Lipoatrophy (HP:0100578) | 2.63639271 |
| 45 | Myoglobinuria (HP:0002913) | 2.63157372 |
| 46 | Abnormality of the calf musculature (HP:0001430) | 2.61931433 |
| 47 | Severe visual impairment (HP:0001141) | 2.57654483 |
| 48 | Oral leukoplakia (HP:0002745) | 2.56823586 |
| 49 | Breast hypoplasia (HP:0003187) | 2.55109570 |
| 50 | Progressive muscle weakness (HP:0003323) | 2.51419912 |
| 51 | Methylmalonic acidemia (HP:0002912) | 2.49276183 |
| 52 | Abnormality of the left ventricular outflow tract (HP:0011103) | 2.48155776 |
| 53 | Subaortic stenosis (HP:0001682) | 2.48155776 |
| 54 | Hyperglycinemia (HP:0002154) | 2.44533955 |
| 55 | Sudden death (HP:0001699) | 2.43963589 |
| 56 | Bifid tongue (HP:0010297) | 2.43639637 |
| 57 | Abnormality of placental membranes (HP:0011409) | 2.43120403 |
| 58 | Amniotic constriction ring (HP:0009775) | 2.43120403 |
| 59 | Macrocytic anemia (HP:0001972) | 2.41660203 |
| 60 | Thyroid-stimulating hormone excess (HP:0002925) | 2.40296324 |
| 61 | * Increased intramyocellular lipid droplets (HP:0012240) | 2.39370198 |
| 62 | Pulmonary fibrosis (HP:0002206) | 2.37858875 |
| 63 | Type 1 muscle fiber predominance (HP:0003803) | 2.37291736 |
| 64 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 2.35939119 |
| 65 | Thrombocytosis (HP:0001894) | 2.35184352 |
| 66 | Chromsome breakage (HP:0040012) | 2.35101310 |
| 67 | Abnormal gallbladder physiology (HP:0012438) | 2.34661414 |
| 68 | Cholecystitis (HP:0001082) | 2.34661414 |
| 69 | Abnormality of the preputium (HP:0100587) | 2.32440523 |
| 70 | Multiple enchondromatosis (HP:0005701) | 2.32366481 |
| 71 | Nonprogressive disorder (HP:0003680) | 2.30898327 |
| 72 | * Increased muscle lipid content (HP:0009058) | 2.29325887 |
| 73 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 2.27325820 |
| 74 | Degeneration of anterior horn cells (HP:0002398) | 2.26835943 |
| 75 | Abnormality of the anterior horn cell (HP:0006802) | 2.26835943 |
| 76 | Dicarboxylic aciduria (HP:0003215) | 2.26832916 |
| 77 | Abnormality of dicarboxylic acid metabolism (HP:0010995) | 2.26832916 |
| 78 | Abnormality of serine family amino acid metabolism (HP:0010894) | 2.25489585 |
| 79 | Abnormality of glycine metabolism (HP:0010895) | 2.25489585 |
| 80 | Supraventricular tachycardia (HP:0004755) | 2.25266429 |
| 81 | Rimmed vacuoles (HP:0003805) | 2.25022835 |
| 82 | Ragged-red muscle fibers (HP:0003200) | 2.23845040 |
| 83 | Pancytopenia (HP:0001876) | 2.19234938 |
| 84 | Neck muscle weakness (HP:0000467) | 2.18866044 |
| 85 | Cerebral edema (HP:0002181) | 2.18165261 |
| 86 | * Respiratory failure (HP:0002878) | 2.17858705 |
| 87 | Abnormal lung lobation (HP:0002101) | 2.15655580 |
| 88 | Atrial fibrillation (HP:0005110) | 2.15278051 |
| 89 | Patellar aplasia (HP:0006443) | 2.14980465 |
| 90 | Microvesicular hepatic steatosis (HP:0001414) | 2.13993155 |
| 91 | Supraventricular arrhythmia (HP:0005115) | 2.13852447 |
| 92 | Abnormal spermatogenesis (HP:0008669) | 2.13585311 |
| 93 | Rhabdomyolysis (HP:0003201) | 2.11263637 |
| 94 | Abnormality of methionine metabolism (HP:0010901) | 2.07048882 |
| 95 | Hyperglycinuria (HP:0003108) | 2.05939529 |
| 96 | Optic disc pallor (HP:0000543) | 2.05831102 |
| 97 | Meckel diverticulum (HP:0002245) | 2.05434786 |
| 98 | Primary atrial arrhythmia (HP:0001692) | 2.05208599 |
| 99 | Myopathic facies (HP:0002058) | 2.04419221 |
| 100 | Calf muscle hypertrophy (HP:0008981) | 2.03716428 |
| 101 | Aplasia/Hypoplasia of the patella (HP:0006498) | 2.03399564 |
| 102 | Abnormality of serum amino acid levels (HP:0003112) | 2.02164004 |
| 103 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 2.00638404 |
| 104 | Duodenal stenosis (HP:0100867) | 2.00261204 |
| 105 | Small intestinal stenosis (HP:0012848) | 2.00261204 |
| 106 | Distal arthrogryposis (HP:0005684) | 1.99507928 |
| 107 | Microretrognathia (HP:0000308) | 1.98450402 |
| 108 | Pallor (HP:0000980) | 1.97017163 |
| 109 | Neoplasm of the adrenal gland (HP:0100631) | 1.97005382 |
| 110 | Secondary amenorrhea (HP:0000869) | 1.95776605 |
| 111 | Progressive external ophthalmoplegia (HP:0000590) | 1.95633059 |
| 112 | Premature ovarian failure (HP:0008209) | 1.95548265 |
| 113 | Abnormality of the ileum (HP:0001549) | 1.93293289 |
| 114 | Testicular atrophy (HP:0000029) | 1.93277135 |
| 115 | Dilated cardiomyopathy (HP:0001644) | 1.91646984 |
| 116 | * Exertional dyspnea (HP:0002875) | 1.90111601 |
| 117 | * Renal Fanconi syndrome (HP:0001994) | 1.89125737 |
| 118 | Nephroblastoma (Wilms tumor) (HP:0002667) | 1.88768507 |
| 119 | Abnormality of aspartate family amino acid metabolism (HP:0010899) | 1.87072263 |
| 120 | Leukodystrophy (HP:0002415) | 1.86934656 |
| 121 | Sloping forehead (HP:0000340) | 1.86831066 |
| 122 | * Increased hepatocellular lipid droplets (HP:0006565) | 1.86356229 |
| 123 | Abnormality of chromosome stability (HP:0003220) | 1.86324858 |
| 124 | Muscle hypertrophy of the lower extremities (HP:0008968) | 1.84364290 |
| 125 | Petechiae (HP:0000967) | 1.83098458 |
| 126 | * Respiratory difficulties (HP:0002880) | 1.83077980 |
| 127 | IgM deficiency (HP:0002850) | 1.82942809 |
| 128 | Unsteady gait (HP:0002317) | 1.82885335 |
| 129 | True hermaphroditism (HP:0010459) | 1.82743693 |
| 130 | Palpitations (HP:0001962) | 1.81888254 |
| 131 | Elevated erythrocyte sedimentation rate (HP:0003565) | 1.81386133 |
| 132 | Lethargy (HP:0001254) | 1.81290864 |
| 133 | Abnormality of vitamin B metabolism (HP:0004340) | 1.80793570 |
| 134 | Late onset (HP:0003584) | 1.80501355 |
| 135 | * Lipid accumulation in hepatocytes (HP:0006561) | 1.80086450 |
| 136 | Shoulder girdle muscle weakness (HP:0003547) | 1.79547954 |
| 137 | Myositis (HP:0100614) | 1.79355737 |
| 138 | Abnormality of the prostate (HP:0008775) | 1.79085906 |
| 139 | Abnormality of the vitamin B12 metabolism (HP:0004341) | 1.78918014 |
| 140 | Embryonal renal neoplasm (HP:0011794) | 1.78229749 |
| 141 | Colon cancer (HP:0003003) | 1.77742199 |
| 142 | Hypothermia (HP:0002045) | 1.76848465 |
| 143 | Areflexia of lower limbs (HP:0002522) | 1.76801388 |
| 144 | Generalized aminoaciduria (HP:0002909) | 1.76641277 |
| 145 | Azoospermia (HP:0000027) | 1.75081440 |
| 146 | Abnormality of the duodenum (HP:0002246) | 1.73974292 |
| 147 | Pancreatic cysts (HP:0001737) | 1.73937687 |
| 148 | Methylmalonic aciduria (HP:0012120) | 1.73933051 |
| 149 | Limb-girdle muscle atrophy (HP:0003797) | 1.71443705 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TNIK | 4.55222229 |
| 2 | EIF2AK3 | 4.12013515 |
| 3 | MUSK | 3.79836723 |
| 4 | TRIM28 | 3.44045669 |
| 5 | STK16 | 3.06866864 |
| 6 | TSSK6 | 2.93502197 |
| 7 | WEE1 | 2.82318068 |
| 8 | NME2 | 2.79672376 |
| 9 | MKNK2 | 2.76240891 |
| 10 | BUB1 | 2.65088405 |
| 11 | MAP4K2 | 2.58529965 |
| 12 | PLK4 | 2.49386453 |
| 13 | VRK2 | 2.48657890 |
| 14 | NLK | 2.40431630 |
| 15 | TLK1 | 2.29761136 |
| 16 | PBK | 2.27969233 |
| 17 | PDK2 | 2.11023363 |
| 18 | MST4 | 2.08621680 |
| 19 | PLK3 | 2.03370064 |
| 20 | IRAK3 | 1.91091328 |
| 21 | CDC7 | 1.90248409 |
| 22 | BRAF | 1.87430728 |
| 23 | PIM2 | 1.86205541 |
| 24 | SRPK1 | 1.69522714 |
| 25 | BMPR1B | 1.68515231 |
| 26 | MKNK1 | 1.63651457 |
| 27 | ERBB3 | 1.63621553 |
| 28 | ACVR1B | 1.63299810 |
| 29 | BCR | 1.60377438 |
| 30 | SIK3 | 1.60241771 |
| 31 | WNK3 | 1.59947651 |
| 32 | ARAF | 1.56650404 |
| 33 | VRK1 | 1.52610779 |
| 34 | EIF2AK1 | 1.52045162 |
| 35 | CDK8 | 1.47039112 |
| 36 | IRAK4 | 1.42114030 |
| 37 | BCKDK | 1.40059353 |
| 38 | NUAK1 | 1.40036232 |
| 39 | MARK3 | 1.39201317 |
| 40 | TEC | 1.30487583 |
| 41 | TAOK2 | 1.28680475 |
| 42 | CAMKK2 | 1.25940406 |
| 43 | OBSCN | 1.25407496 |
| 44 | EIF2AK2 | 1.23109388 |
| 45 | TTK | 1.17674635 |
| 46 | MAP3K6 | 1.16960278 |
| 47 | MYLK | 1.16657321 |
| 48 | TAOK1 | 1.16415490 |
| 49 | CASK | 1.14757366 |
| 50 | MAP3K11 | 1.08152284 |
| 51 | PLK1 | 1.05404459 |
| 52 | MAP2K7 | 1.05140107 |
| 53 | NEK2 | 1.04130321 |
| 54 | PINK1 | 1.03158861 |
| 55 | KDR | 1.01964665 |
| 56 | CSNK1G1 | 1.01463153 |
| 57 | KIT | 1.01325384 |
| 58 | CSNK1G3 | 1.01167629 |
| 59 | MAPKAPK3 | 0.98410493 |
| 60 | RAF1 | 0.98195929 |
| 61 | TTN | 0.97677552 |
| 62 | GRK1 | 0.96919094 |
| 63 | FES | 0.94472052 |
| 64 | MAP4K1 | 0.94012773 |
| 65 | ZAK | 0.93690486 |
| 66 | CDK7 | 0.90503826 |
| 67 | DYRK3 | 0.90477366 |
| 68 | NME1 | 0.86102036 |
| 69 | FLT3 | 0.84689503 |
| 70 | BRSK2 | 0.84677755 |
| 71 | CSNK1A1L | 0.81733288 |
| 72 | LMTK2 | 0.80749720 |
| 73 | BRD4 | 0.79843662 |
| 74 | MAP2K3 | 0.77982036 |
| 75 | PLK2 | 0.77799407 |
| 76 | AURKB | 0.77654531 |
| 77 | CDK19 | 0.75820794 |
| 78 | LIMK1 | 0.73893196 |
| 79 | PHKG1 | 0.73287534 |
| 80 | PHKG2 | 0.73287534 |
| 81 | CSNK1G2 | 0.73211326 |
| 82 | BTK | 0.72160174 |
| 83 | MAP3K5 | 0.70632610 |
| 84 | AURKA | 0.70572355 |
| 85 | MAP3K12 | 0.70261945 |
| 86 | CHEK1 | 0.69405301 |
| 87 | CDK4 | 0.68808351 |
| 88 | NEK1 | 0.68213139 |
| 89 | ABL2 | 0.67577039 |
| 90 | CCNB1 | 0.66667335 |
| 91 | DMPK | 0.65138372 |
| 92 | TXK | 0.64880160 |
| 93 | MAPK13 | 0.64696314 |
| 94 | CHEK2 | 0.64416232 |
| 95 | DYRK2 | 0.64350137 |
| 96 | STK38L | 0.63880813 |
| 97 | TAF1 | 0.63133691 |
| 98 | STK24 | 0.62439728 |
| 99 | RPS6KB2 | 0.60250176 |
| 100 | PRKD2 | 0.59264202 |
| 101 | MOS | 0.57734459 |
| 102 | ATM | 0.57137182 |
| 103 | CAMK1 | 0.57026135 |
| 104 | BMPR2 | 0.55883463 |
| 105 | TESK1 | 0.55636741 |
| 106 | ATR | 0.55176989 |
| 107 | SCYL2 | 0.54923768 |
| 108 | MAP3K4 | 0.51908198 |
| 109 | PDK3 | 0.49877073 |
| 110 | PDK4 | 0.49877073 |
| 111 | MAP3K8 | 0.49303613 |
| 112 | DAPK1 | 0.45808548 |
| 113 | CSNK2A1 | 0.45593330 |
| 114 | RPS6KA4 | 0.45556607 |
| 115 | MAPK11 | 0.43349566 |
| 116 | ILK | 0.43244137 |
| 117 | MAPK4 | 0.43098027 |
| 118 | TESK2 | 0.42208957 |
| 119 | PRKG2 | 0.41719244 |
| 120 | PIM1 | 0.41634248 |
| 121 | TIE1 | 0.40933309 |
| 122 | BRSK1 | 0.40479556 |
| 123 | STK10 | 0.39695600 |
| 124 | PKN1 | 0.39397066 |
| 125 | STK3 | 0.39224765 |
| 126 | TGFBR1 | 0.37432095 |
| 127 | ZAP70 | 0.36194901 |
| 128 | AKT2 | 0.35612801 |
| 129 | PAK4 | 0.34923097 |
| 130 | IRAK2 | 0.33582679 |
| 131 | PRKCI | 0.33364913 |
| 132 | CDK3 | 0.32546499 |
| 133 | CSNK1A1 | 0.31110802 |
| 134 | PAK1 | 0.30578071 |
| 135 | CDK1 | 0.29854491 |
| 136 | CSNK2A2 | 0.29460722 |
| 137 | LYN | 0.29176209 |
| 138 | MST1R | 0.29170974 |
| 139 | MAPKAPK5 | 0.29010267 |
| 140 | SYK | 0.28901439 |
| 141 | CSNK1E | 0.28396600 |
| 142 | PIK3CG | 0.28390630 |
| 143 | JAK3 | 0.28318146 |
| 144 | NEK9 | 0.27959499 |
| 145 | CDK2 | 0.27405464 |
| 146 | PRKACB | 0.24908080 |
| 147 | CLK1 | 0.23147507 |
| 148 | ERBB4 | 0.23034451 |
| 149 | CAMK2D | 0.21607473 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | DNA replication_Homo sapiens_hsa03030 | 5.06993330 |
| 2 | Ribosome_Homo sapiens_hsa03010 | 3.93453425 |
| 3 | RNA polymerase_Homo sapiens_hsa03020 | 3.67271416 |
| 4 | Mismatch repair_Homo sapiens_hsa03430 | 3.51811699 |
| 5 | Homologous recombination_Homo sapiens_hsa03440 | 3.38725321 |
| 6 | Base excision repair_Homo sapiens_hsa03410 | 3.12923212 |
| 7 | Proteasome_Homo sapiens_hsa03050 | 3.04496246 |
| 8 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 2.76062985 |
| 9 | Nucleotide excision repair_Homo sapiens_hsa03420 | 2.49037576 |
| 10 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 2.40748544 |
| 11 | Spliceosome_Homo sapiens_hsa03040 | 2.27237330 |
| 12 | Parkinsons disease_Homo sapiens_hsa05012 | 2.25874812 |
| 13 | * Oxidative phosphorylation_Homo sapiens_hsa00190 | 2.19491527 |
| 14 | Basal transcription factors_Homo sapiens_hsa03022 | 2.18948596 |
| 15 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 2.15809847 |
| 16 | RNA degradation_Homo sapiens_hsa03018 | 2.03631782 |
| 17 | Cell cycle_Homo sapiens_hsa04110 | 2.03212572 |
| 18 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 1.93967766 |
| 19 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 1.91654349 |
| 20 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.90114548 |
| 21 | Huntingtons disease_Homo sapiens_hsa05016 | 1.85041596 |
| 22 | RNA transport_Homo sapiens_hsa03013 | 1.84598997 |
| 23 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.83383792 |
| 24 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 1.78353847 |
| 25 | Purine metabolism_Homo sapiens_hsa00230 | 1.77575303 |
| 26 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 1.67552120 |
| 27 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.60895837 |
| 28 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 1.60057795 |
| 29 | Protein export_Homo sapiens_hsa03060 | 1.57173421 |
| 30 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.56859724 |
| 31 | Sulfur relay system_Homo sapiens_hsa04122 | 1.47026032 |
| 32 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.46028985 |
| 33 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 1.42547262 |
| 34 | Alzheimers disease_Homo sapiens_hsa05010 | 1.35041826 |
| 35 | Steroid biosynthesis_Homo sapiens_hsa00100 | 1.33179389 |
| 36 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.32680861 |
| 37 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 1.27895981 |
| 38 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 1.19805756 |
| 39 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.15570068 |
| 40 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 1.14871323 |
| 41 | Folate biosynthesis_Homo sapiens_hsa00790 | 1.09117452 |
| 42 | Thyroid cancer_Homo sapiens_hsa05216 | 1.05904928 |
| 43 | Circadian rhythm_Homo sapiens_hsa04710 | 1.04393778 |
| 44 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.03009322 |
| 45 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 1.00840773 |
| 46 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.00169395 |
| 47 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.99235302 |
| 48 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.96338424 |
| 49 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.95385962 |
| 50 | Carbon metabolism_Homo sapiens_hsa01200 | 0.92334188 |
| 51 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.90019564 |
| 52 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.89181834 |
| 53 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.88311898 |
| 54 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.87169896 |
| 55 | Other glycan degradation_Homo sapiens_hsa00511 | 0.86985045 |
| 56 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.86669532 |
| 57 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.85257695 |
| 58 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.84244234 |
| 59 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.84033373 |
| 60 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.78962974 |
| 61 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.77201053 |
| 62 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.76864043 |
| 63 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.72815070 |
| 64 | Galactose metabolism_Homo sapiens_hsa00052 | 0.72326345 |
| 65 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.70605000 |
| 66 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.66761140 |
| 67 | Peroxisome_Homo sapiens_hsa04146 | 0.64192235 |
| 68 | * Metabolic pathways_Homo sapiens_hsa01100 | 0.60503594 |
| 69 | * Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.59053307 |
| 70 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.58817993 |
| 71 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.58079258 |
| 72 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.55667117 |
| 73 | RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622 | 0.53221546 |
| 74 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.52911004 |
| 75 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.52014063 |
| 76 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 0.50072128 |
| 77 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.48388710 |
| 78 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.42893532 |
| 79 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.42041504 |
| 80 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.41986000 |
| 81 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.41114779 |
| 82 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.40644409 |
| 83 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.40181469 |
| 84 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.39445906 |
| 85 | Measles_Homo sapiens_hsa05162 | 0.38629579 |
| 86 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.38297357 |
| 87 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.37430212 |
| 88 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.36523337 |
| 89 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.36261205 |
| 90 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.36256009 |
| 91 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.34951738 |
| 92 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.34240283 |
| 93 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.33291301 |
| 94 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.32842360 |
| 95 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 0.32047621 |
| 96 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.31499700 |
| 97 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.30687002 |
| 98 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.29452403 |
| 99 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.29360740 |
| 100 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.28737067 |
| 101 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.27993159 |
| 102 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.27386618 |
| 103 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.27131275 |
| 104 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.27081152 |
| 105 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.26973457 |
| 106 | HTLV-I infection_Homo sapiens_hsa05166 | 0.26805506 |
| 107 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.26714064 |
| 108 | Viral myocarditis_Homo sapiens_hsa05416 | 0.26667122 |
| 109 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.26360328 |
| 110 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.22880451 |
| 111 | Lysine degradation_Homo sapiens_hsa00310 | 0.21638641 |
| 112 | Leishmaniasis_Homo sapiens_hsa05140 | 0.20987625 |
| 113 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 0.20463120 |
| 114 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.20112348 |
| 115 | Tight junction_Homo sapiens_hsa04530 | 0.17429444 |
| 116 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.17238255 |
| 117 | Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650 | 0.17163261 |
| 118 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.16605407 |
| 119 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.15083230 |
| 120 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.14253877 |
| 121 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 0.13409107 |
| 122 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.12790136 |
| 123 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.12556441 |
| 124 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.11857586 |
| 125 | Apoptosis_Homo sapiens_hsa04210 | 0.10868251 |
| 126 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 0.10826367 |
| 127 | Legionellosis_Homo sapiens_hsa05134 | 0.10435076 |
| 128 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.10354580 |
| 129 | Hepatitis B_Homo sapiens_hsa05161 | 0.10349506 |
| 130 | Asthma_Homo sapiens_hsa05310 | 0.09814198 |
| 131 | Colorectal cancer_Homo sapiens_hsa05210 | 0.09246589 |
| 132 | Influenza A_Homo sapiens_hsa05164 | 0.08336432 |
| 133 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.07919404 |
| 134 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.07909841 |
| 135 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.07406362 |

