

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | DNA deamination (GO:0045006) | 6.04869106 |
| 2 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 5.04808349 |
| 3 | ribosomal small subunit assembly (GO:0000028) | 5.02790295 |
| 4 | energy coupled proton transport, down electrochemical gradient (GO:0015985) | 4.86346946 |
| 5 | ATP synthesis coupled proton transport (GO:0015986) | 4.86346946 |
| 6 | * proteasome assembly (GO:0043248) | 4.52066901 |
| 7 | mitochondrial electron transport, NADH to ubiquinone (GO:0006120) | 4.39402159 |
| 8 | establishment of protein localization to mitochondrial membrane (GO:0090151) | 4.38844083 |
| 9 | mitochondrial respiratory chain complex assembly (GO:0033108) | 4.37832676 |
| 10 | respiratory electron transport chain (GO:0022904) | 4.20344444 |
| 11 | electron transport chain (GO:0022900) | 4.20164520 |
| 12 | behavioral response to nicotine (GO:0035095) | 4.18486959 |
| 13 | fucose catabolic process (GO:0019317) | 4.00811552 |
| 14 | L-fucose metabolic process (GO:0042354) | 4.00811552 |
| 15 | L-fucose catabolic process (GO:0042355) | 4.00811552 |
| 16 | respiratory chain complex IV assembly (GO:0008535) | 3.95771086 |
| 17 | viral transcription (GO:0019083) | 3.93405584 |
| 18 | platelet dense granule organization (GO:0060155) | 3.91061343 |
| 19 | tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) | 3.87227559 |
| 20 | RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394) | 3.87227559 |
| 21 | ribosomal small subunit biogenesis (GO:0042274) | 3.83590891 |
| 22 | tRNA methylation (GO:0030488) | 3.82401610 |
| 23 | translational termination (GO:0006415) | 3.73264047 |
| 24 | maturation of SSU-rRNA (GO:0030490) | 3.72378605 |
| 25 | ribosomal large subunit biogenesis (GO:0042273) | 3.63492999 |
| 26 | deoxyribonucleoside monophosphate metabolic process (GO:0009162) | 3.58715762 |
| 27 | telomere maintenance via semi-conservative replication (GO:0032201) | 3.57662807 |
| 28 | SRP-dependent cotranslational protein targeting to membrane (GO:0006614) | 3.55590814 |
| 29 | transcription elongation from RNA polymerase III promoter (GO:0006385) | 3.51709646 |
| 30 | termination of RNA polymerase III transcription (GO:0006386) | 3.51709646 |
| 31 | mannosylation (GO:0097502) | 3.51308839 |
| 32 | cotranslational protein targeting to membrane (GO:0006613) | 3.50117329 |
| 33 | protein targeting to ER (GO:0045047) | 3.45414558 |
| 34 | cytochrome complex assembly (GO:0017004) | 3.42942436 |
| 35 | protein localization to endoplasmic reticulum (GO:0070972) | 3.34885236 |
| 36 | protein-cofactor linkage (GO:0018065) | 3.33084178 |
| 37 | rRNA modification (GO:0000154) | 3.28937302 |
| 38 | pseudouridine synthesis (GO:0001522) | 3.26764288 |
| 39 | establishment of protein localization to endoplasmic reticulum (GO:0072599) | 3.22837487 |
| 40 | peptidyl-histidine modification (GO:0018202) | 3.22026112 |
| 41 | preassembly of GPI anchor in ER membrane (GO:0016254) | 3.19321002 |
| 42 | pyrimidine deoxyribonucleotide catabolic process (GO:0009223) | 3.17417037 |
| 43 | piRNA metabolic process (GO:0034587) | 3.17333197 |
| 44 | telomere maintenance via recombination (GO:0000722) | 3.16326282 |
| 45 | hydrogen ion transmembrane transport (GO:1902600) | 3.15999071 |
| 46 | ubiquinone metabolic process (GO:0006743) | 3.12960918 |
| 47 | iron-sulfur cluster assembly (GO:0016226) | 3.12600171 |
| 48 | metallo-sulfur cluster assembly (GO:0031163) | 3.12600171 |
| 49 | translational elongation (GO:0006414) | 3.12329339 |
| 50 | protein deneddylation (GO:0000338) | 3.11773905 |
| 51 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 3.11208602 |
| 52 | protein neddylation (GO:0045116) | 3.08626277 |
| 53 | kynurenine metabolic process (GO:0070189) | 3.07817005 |
| 54 | negative regulation of telomere maintenance (GO:0032205) | 3.07024640 |
| 55 | base-excision repair, AP site formation (GO:0006285) | 3.07004424 |
| 56 | response to folic acid (GO:0051593) | 3.05688395 |
| 57 | positive regulation of prostaglandin secretion (GO:0032308) | 3.04543732 |
| 58 | DNA ligation (GO:0006266) | 3.03718834 |
| 59 | DNA replication initiation (GO:0006270) | 3.03624742 |
| 60 | purine nucleoside triphosphate biosynthetic process (GO:0009145) | 3.02701979 |
| 61 | L-methionine biosynthetic process from methylthioadenosine (GO:0019509) | 3.02290972 |
| 62 | proton transport (GO:0015992) | 3.01094131 |
| 63 | nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291) | 2.99281463 |
| 64 | RNA methylation (GO:0001510) | 2.99223713 |
| 65 | facial nerve structural organization (GO:0021612) | 2.98843034 |
| 66 | purine ribonucleoside triphosphate biosynthetic process (GO:0009206) | 2.98606392 |
| 67 | CENP-A containing nucleosome assembly (GO:0034080) | 2.98326283 |
| 68 | cullin deneddylation (GO:0010388) | 2.96185501 |
| 69 | water-soluble vitamin biosynthetic process (GO:0042364) | 2.94877937 |
| 70 | 7-methylguanosine mRNA capping (GO:0006370) | 2.94300039 |
| 71 | hydrogen transport (GO:0006818) | 2.92478410 |
| 72 | translation (GO:0006412) | 2.91835820 |
| 73 | pyrimidine deoxyribonucleotide metabolic process (GO:0009219) | 2.91810607 |
| 74 | RNA capping (GO:0036260) | 2.90791973 |
| 75 | 7-methylguanosine RNA capping (GO:0009452) | 2.90791973 |
| 76 | DNA strand elongation involved in DNA replication (GO:0006271) | 2.90754686 |
| 77 | tRNA modification (GO:0006400) | 2.90014501 |
| 78 | chaperone-mediated protein transport (GO:0072321) | 2.89262044 |
| 79 | DNA damage response, detection of DNA damage (GO:0042769) | 2.88090586 |
| 80 | * negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436) | 2.87847336 |
| 81 | viral life cycle (GO:0019058) | 2.87718575 |
| 82 | L-methionine salvage (GO:0071267) | 2.87518745 |
| 83 | L-methionine biosynthetic process (GO:0071265) | 2.87518745 |
| 84 | amino acid salvage (GO:0043102) | 2.87518745 |
| 85 | intracellular protein transmembrane import (GO:0044743) | 2.87099398 |
| 86 | DNA strand elongation (GO:0022616) | 2.85270815 |
| 87 | ATP biosynthetic process (GO:0006754) | 2.84573390 |
| 88 | cellular ketone body metabolic process (GO:0046950) | 2.83240548 |
| 89 | translational initiation (GO:0006413) | 2.82106161 |
| 90 | indolalkylamine metabolic process (GO:0006586) | 2.82096019 |
| 91 | telomere maintenance via telomere lengthening (GO:0010833) | 2.81190668 |
| 92 | ribonucleoprotein complex biogenesis (GO:0022613) | 2.80867371 |
| 93 | indolalkylamine catabolic process (GO:0046218) | 2.80586573 |
| 94 | tryptophan catabolic process (GO:0006569) | 2.80586573 |
| 95 | indole-containing compound catabolic process (GO:0042436) | 2.80586573 |
| 96 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184) | 2.79867495 |
| 97 | replication fork processing (GO:0031297) | 2.79575219 |
| 98 | rRNA methylation (GO:0031167) | 2.78607353 |
| 99 | chromatin remodeling at centromere (GO:0031055) | 2.78541582 |
| 100 | UTP biosynthetic process (GO:0006228) | 2.77839873 |
| 101 | heme biosynthetic process (GO:0006783) | 2.77778166 |
| 102 | establishment of protein localization to mitochondrion (GO:0072655) | 2.77235899 |
| 103 | cellular protein complex disassembly (GO:0043624) | 2.77176626 |
| 104 | protein targeting to mitochondrion (GO:0006626) | 2.75763626 |
| 105 | UTP metabolic process (GO:0046051) | 2.75362024 |
| 106 | kinetochore assembly (GO:0051382) | 2.74977239 |
| 107 | DNA catabolic process, exonucleolytic (GO:0000738) | 2.74683521 |
| 108 | signal peptide processing (GO:0006465) | 2.73013379 |
| 109 | response to interferon-beta (GO:0035456) | 2.71771213 |
| 110 | * regulation of cellular amino acid metabolic process (GO:0006521) | 2.71684896 |
| 111 | protein complex biogenesis (GO:0070271) | 2.71524290 |
| 112 | * anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0 | 2.68736940 |
| 113 | ketone body metabolic process (GO:1902224) | 2.67573664 |
| 114 | deoxyribonucleotide catabolic process (GO:0009264) | 2.66848900 |
| 115 | DNA replication checkpoint (GO:0000076) | 2.66830482 |
| 116 | rRNA processing (GO:0006364) | 2.66083134 |
| 117 | transcription-coupled nucleotide-excision repair (GO:0006283) | 2.66029927 |
| 118 | maturation of 5.8S rRNA (GO:0000460) | 2.65755793 |
| 119 | mitotic recombination (GO:0006312) | 2.65543844 |
| 120 | * regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) | 2.65232617 |
| 121 | mitochondrial respiratory chain complex I biogenesis (GO:0097031) | 2.64391748 |
| 122 | mitochondrial respiratory chain complex I assembly (GO:0032981) | 2.64391748 |
| 123 | NADH dehydrogenase complex assembly (GO:0010257) | 2.64391748 |
| 124 | RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503) | 2.64347913 |
| 125 | cellular component biogenesis (GO:0044085) | 2.64169347 |
| 126 | GTP biosynthetic process (GO:0006183) | 2.62208185 |
| 127 | protein localization to mitochondrion (GO:0070585) | 2.61345290 |
| 128 | heme metabolic process (GO:0042168) | 2.60536876 |
| 129 | * positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437) | 2.60372999 |
| 130 | * DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00 | 2.58959308 |
| 131 | pyrimidine nucleotide catabolic process (GO:0006244) | 2.58868200 |
| 132 | * negative regulation of ubiquitin-protein transferase activity (GO:0051444) | 2.57994569 |
| 133 | * negative regulation of ligase activity (GO:0051352) | 2.57994569 |
| 134 | tRNA processing (GO:0008033) | 2.57960306 |
| 135 | protein K6-linked ubiquitination (GO:0085020) | 2.57677062 |
| 136 | * signal transduction involved in DNA integrity checkpoint (GO:0072401) | 2.57093313 |
| 137 | * signal transduction involved in DNA damage checkpoint (GO:0072422) | 2.57093313 |
| 138 | * antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO: | 2.56219119 |
| 139 | * signal transduction involved in mitotic cell cycle checkpoint (GO:0072413) | 2.55723106 |
| 140 | * signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403) | 2.55723106 |
| 141 | * signal transduction involved in mitotic DNA damage checkpoint (GO:1902402) | 2.55723106 |
| 142 | GPI anchor biosynthetic process (GO:0006506) | 2.55610248 |
| 143 | quinone biosynthetic process (GO:1901663) | 2.55545992 |
| 144 | ubiquinone biosynthetic process (GO:0006744) | 2.55545992 |
| 145 | rRNA metabolic process (GO:0016072) | 2.54817035 |
| 146 | mitochondrial RNA metabolic process (GO:0000959) | 2.54467549 |
| 147 | spliceosomal snRNP assembly (GO:0000387) | 2.54113398 |
| 148 | * signal transduction involved in cell cycle checkpoint (GO:0072395) | 2.54067882 |
| 149 | * signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431) | 2.53449905 |
| 150 | * intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400) | 2.53449905 |
| 151 | lymphoid progenitor cell differentiation (GO:0002320) | 2.52402992 |
| 152 | centriole assembly (GO:0098534) | 2.51882782 |
| 153 | regulation of mitochondrial translation (GO:0070129) | 2.51444530 |
| 154 | RNA modification (GO:0009451) | 2.50975349 |
| 155 | omega-hydroxylase P450 pathway (GO:0097267) | 2.50222411 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 4.30384771 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 4.22837291 |
| 3 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 4.17902016 |
| 4 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 3.79360892 |
| 5 | * JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 3.74378113 |
| 6 | ZNF274_21170338_ChIP-Seq_K562_Hela | 3.54780485 |
| 7 | E2F7_22180533_ChIP-Seq_HELA_Human | 3.51489544 |
| 8 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 3.41685254 |
| 9 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 3.32659054 |
| 10 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 3.15486709 |
| 11 | * HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 2.95916336 |
| 12 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 2.90679508 |
| 13 | VDR_22108803_ChIP-Seq_LS180_Human | 2.86563883 |
| 14 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 2.77399698 |
| 15 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 2.76511519 |
| 16 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 2.73702692 |
| 17 | SRF_21415370_ChIP-Seq_HL-1_Mouse | 2.61423635 |
| 18 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 2.60963555 |
| 19 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 2.55563508 |
| 20 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 2.43603270 |
| 21 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 2.39544918 |
| 22 | * VDR_23849224_ChIP-Seq_CD4+_Human | 2.37458354 |
| 23 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 2.27809149 |
| 24 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 2.24666848 |
| 25 | FLI1_20887958_ChIP-Seq_HPC-7_Mouse | 2.24318872 |
| 26 | SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse | 2.24314535 |
| 27 | EGR1_23403033_ChIP-Seq_LIVER_Mouse | 2.21496757 |
| 28 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 2.20685175 |
| 29 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 2.18176507 |
| 30 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.12347102 |
| 31 | IRF1_19129219_ChIP-ChIP_H3396_Human | 2.11543261 |
| 32 | * E2F1_18555785_ChIP-Seq_MESCs_Mouse | 2.02566684 |
| 33 | HOXB4_20404135_ChIP-ChIP_EML_Mouse | 2.00078501 |
| 34 | * FOXP3_21729870_ChIP-Seq_TREG_Human | 1.94782339 |
| 35 | NOTCH1_21737748_ChIP-Seq_TLL_Human | 1.94077192 |
| 36 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.90290351 |
| 37 | CEBPB_24764292_ChIP-Seq_MC3T3_Mouse | 1.83467947 |
| 38 | YY1_21170310_ChIP-Seq_MESCs_Mouse | 1.81795182 |
| 39 | FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 1.81651992 |
| 40 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 1.78985815 |
| 41 | XRN2_22483619_ChIP-Seq_HELA_Human | 1.77208958 |
| 42 | * ERG_20887958_ChIP-Seq_HPC-7_Mouse | 1.76460546 |
| 43 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.75005208 |
| 44 | ELK1_19687146_ChIP-ChIP_HELA_Human | 1.74874868 |
| 45 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 1.73431356 |
| 46 | IRF8_22096565_ChIP-ChIP_GC-B_Mouse | 1.71847370 |
| 47 | SCL_19346495_ChIP-Seq_HPC-7_Human | 1.70956489 |
| 48 | CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 1.69858065 |
| 49 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.68651480 |
| 50 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.68634151 |
| 51 | SPI1_22096565_ChIP-ChIP_GC-B_Mouse | 1.66999398 |
| 52 | * GABP_19822575_ChIP-Seq_HepG2_Human | 1.65506676 |
| 53 | TAL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.65506061 |
| 54 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.64438574 |
| 55 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 1.63875223 |
| 56 | EWS_26573619_Chip-Seq_HEK293_Human | 1.60943441 |
| 57 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.56133772 |
| 58 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.56010380 |
| 59 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 1.53404627 |
| 60 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 1.52477682 |
| 61 | LYL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.46744092 |
| 62 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.46296365 |
| 63 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.46296365 |
| 64 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.45949022 |
| 65 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.45706164 |
| 66 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.45134724 |
| 67 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.44137442 |
| 68 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.43292258 |
| 69 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.40507908 |
| 70 | * AR_20517297_ChIP-Seq_VCAP_Human | 1.37716870 |
| 71 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.31720376 |
| 72 | POU5F1_18358816_ChIP-ChIP_MESCs_Mouse | 1.31231957 |
| 73 | SFPI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.30732160 |
| 74 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.29749085 |
| 75 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.28443124 |
| 76 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.26988606 |
| 77 | RUNX1_20887958_ChIP-Seq_HPC-7_Mouse | 1.26684034 |
| 78 | ERA_21632823_ChIP-Seq_H3396_Human | 1.20689719 |
| 79 | ASH2L_23239880_ChIP-Seq_MESCs_Mouse | 1.19839598 |
| 80 | NANOG_18555785_ChIP-Seq_MESCs_Mouse | 1.19520267 |
| 81 | SPI1_23547873_ChIP-Seq_NB4_Human | 1.18704040 |
| 82 | * POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.17752154 |
| 83 | NCOR_22424771_ChIP-Seq_293T_Human | 1.15649020 |
| 84 | PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse | 1.15483809 |
| 85 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.15064313 |
| 86 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.14488364 |
| 87 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.14247807 |
| 88 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.14241703 |
| 89 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.13898476 |
| 90 | PADI4_21655091_ChIP-ChIP_MCF-7_Human | 1.13719628 |
| 91 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.13111961 |
| 92 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.11943027 |
| 93 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.09153713 |
| 94 | MEIS1_20887958_ChIP-Seq_HPC-7_Mouse | 1.09087932 |
| 95 | LMO2_20887958_ChIP-Seq_HPC-7_Mouse | 1.08470864 |
| 96 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.07871380 |
| 97 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.07263818 |
| 98 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.06992542 |
| 99 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.06747167 |
| 100 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.06747167 |
| 101 | FUS_26573619_Chip-Seq_HEK293_Human | 1.06641230 |
| 102 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.05174880 |
| 103 | ELK1_22589737_ChIP-Seq_MCF10A_Human | 1.03740459 |
| 104 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.03630054 |
| 105 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 1.03431057 |
| 106 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.03361338 |
| 107 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.00933689 |
| 108 | STAT4_19710469_ChIP-ChIP_TH1__Mouse | 1.00487076 |
| 109 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 0.99625800 |
| 110 | ERG_20517297_ChIP-Seq_VCAP_Human | 0.98866701 |
| 111 | STAT1_20625510_ChIP-Seq_HELA_Human | 0.98706780 |
| 112 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.98113950 |
| 113 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 0.96713844 |
| 114 | FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 0.95298861 |
| 115 | KLF4_19030024_ChIP-ChIP_MESCs_Mouse | 0.95037475 |
| 116 | P300_19829295_ChIP-Seq_ESCs_Human | 0.94378317 |
| 117 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 0.94348771 |
| 118 | P53_21459846_ChIP-Seq_SAOS-2_Human | 0.94010401 |
| 119 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 0.93843981 |
| 120 | SRY_22984422_ChIP-ChIP_TESTIS_Rat | 0.93820549 |
| 121 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 0.93195279 |
| 122 | GBX2_23144817_ChIP-Seq_PC3_Human | 0.93049240 |
| 123 | MECOM_23826213_ChIP-Seq_KASUMI_Mouse | 0.92826878 |
| 124 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 0.91056913 |
| 125 | MYC_19829295_ChIP-Seq_ESCs_Human | 0.90694099 |
| 126 | * KDM5A_27292631_Chip-Seq_BREAST_Human | 0.90687128 |
| 127 | GATA2_20887958_ChIP-Seq_HPC-7_Mouse | 0.90004074 |
| 128 | GFI1B_20887958_ChIP-Seq_HPC-7_Mouse | 0.89838827 |
| 129 | IRF8_21731497_ChIP-ChIP_J774_Mouse | 0.89180843 |
| 130 | GATA3_26560356_Chip-Seq_TH2_Human | 0.88480305 |
| 131 | GATA1_22383799_ChIP-Seq_G1ME_Mouse | 0.87730424 |
| 132 | BCL3_23251550_ChIP-Seq_MUSCLE_Mouse | 0.86411936 |
| 133 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 0.86056326 |
| 134 | NANOG_18358816_ChIP-ChIP_MESCs_Mouse | 0.85780104 |
| 135 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 0.83966160 |
| 136 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 0.83851552 |
| 137 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 0.83780428 |
| 138 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 0.83521736 |
| 139 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 0.82023184 |
| 140 | CTCF_18555785_ChIP-Seq_MESCs_Mouse | 0.81357760 |
| 141 | GATA2_22383799_ChIP-Seq_G1ME_Mouse | 0.80922461 |
| 142 | * ZFX_18555785_ChIP-Seq_MESCs_Mouse | 0.79990439 |
| 143 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 0.79425590 |
| 144 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 0.79288808 |
| 145 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 0.76560871 |
| 146 | YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 0.75401859 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003136_yellow_coat_color | 4.81929184 |
| 2 | MP0006292_abnormal_olfactory_placode | 3.61821025 |
| 3 | MP0009379_abnormal_foot_pigmentation | 3.54555529 |
| 4 | MP0003693_abnormal_embryo_hatching | 2.71996503 |
| 5 | MP0003718_maternal_effect | 2.63541738 |
| 6 | MP0004381_abnormal_hair_follicle | 2.58974329 |
| 7 | MP0000569_abnormal_digit_pigmentation | 2.48949083 |
| 8 | MP0002837_dystrophic_cardiac_calcinosis | 2.46443895 |
| 9 | MP0001188_hyperpigmentation | 2.41894196 |
| 10 | MP0008058_abnormal_DNA_repair | 2.36692289 |
| 11 | MP0005409_darkened_coat_color | 2.26143726 |
| 12 | MP0005551_abnormal_eye_electrophysiolog | 2.11235431 |
| 13 | MP0000372_irregular_coat_pigmentation | 2.07098307 |
| 14 | MP0002736_abnormal_nociception_after | 2.06777834 |
| 15 | MP0005075_abnormal_melanosome_morpholog | 2.01552876 |
| 16 | MP0005451_abnormal_body_composition | 1.98596619 |
| 17 | MP0003656_abnormal_erythrocyte_physiolo | 1.97517031 |
| 18 | MP0003186_abnormal_redox_activity | 1.93699905 |
| 19 | MP0003724_increased_susceptibility_to | 1.91971018 |
| 20 | MP0010094_abnormal_chromosome_stability | 1.91414971 |
| 21 | MP0002102_abnormal_ear_morphology | 1.91373872 |
| 22 | MP0006072_abnormal_retinal_apoptosis | 1.90638301 |
| 23 | MP0008260_abnormal_autophagy | 1.90617660 |
| 24 | MP0001968_abnormal_touch/_nociception | 1.88751328 |
| 25 | MP0005174_abnormal_tail_pigmentation | 1.88644353 |
| 26 | MP0009697_abnormal_copulation | 1.86079645 |
| 27 | MP0000015_abnormal_ear_pigmentation | 1.84229777 |
| 28 | MP0008877_abnormal_DNA_methylation | 1.79533605 |
| 29 | MP0002095_abnormal_skin_pigmentation | 1.75849841 |
| 30 | MP0003111_abnormal_nucleus_morphology | 1.75746180 |
| 31 | MP0002132_abnormal_respiratory_system | 1.72564342 |
| 32 | MP0008872_abnormal_physiological_respon | 1.72019157 |
| 33 | MP0003011_delayed_dark_adaptation | 1.70413910 |
| 34 | MP0003950_abnormal_plasma_membrane | 1.69597553 |
| 35 | MP0002396_abnormal_hematopoietic_system | 1.67426408 |
| 36 | MP0008007_abnormal_cellular_replicative | 1.67377158 |
| 37 | MP0003806_abnormal_nucleotide_metabolis | 1.64431245 |
| 38 | MP0009785_altered_susceptibility_to | 1.64260642 |
| 39 | MP0003077_abnormal_cell_cycle | 1.60996964 |
| 40 | MP0005253_abnormal_eye_physiology | 1.58315711 |
| 41 | MP0000427_abnormal_hair_cycle | 1.56674531 |
| 42 | MP0008932_abnormal_embryonic_tissue | 1.54722253 |
| 43 | MP0000490_abnormal_crypts_of | 1.53421047 |
| 44 | MP0004147_increased_porphyrin_level | 1.52414406 |
| 45 | MP0009333_abnormal_splenocyte_physiolog | 1.50868865 |
| 46 | MP0002138_abnormal_hepatobiliary_system | 1.47695252 |
| 47 | MP0005084_abnormal_gallbladder_morpholo | 1.47390464 |
| 48 | MP0001986_abnormal_taste_sensitivity | 1.47167692 |
| 49 | MP0003786_premature_aging | 1.45912408 |
| 50 | MP0000566_synostosis | 1.45528878 |
| 51 | MP0002139_abnormal_hepatobiliary_system | 1.44770799 |
| 52 | MP0002234_abnormal_pharynx_morphology | 1.41773979 |
| 53 | MP0002163_abnormal_gland_morphology | 1.39836462 |
| 54 | MP0004957_abnormal_blastocyst_morpholog | 1.36686568 |
| 55 | MP0004133_heterotaxia | 1.34913944 |
| 56 | MP0010386_abnormal_urinary_bladder | 1.34571434 |
| 57 | MP0002148_abnormal_hypersensitivity_rea | 1.34459898 |
| 58 | MP0009046_muscle_twitch | 1.34323736 |
| 59 | MP0002938_white_spotting | 1.33609015 |
| 60 | MP0001835_abnormal_antigen_presentation | 1.32731525 |
| 61 | MP0002653_abnormal_ependyma_morphology | 1.31354152 |
| 62 | MP0005171_absent_coat_pigmentation | 1.31200158 |
| 63 | MP0006035_abnormal_mitochondrial_morpho | 1.31151453 |
| 64 | MP0003763_abnormal_thymus_physiology | 1.27784650 |
| 65 | MP0005646_abnormal_pituitary_gland | 1.25879151 |
| 66 | MP0002638_abnormal_pupillary_reflex | 1.25614916 |
| 67 | MP0002277_abnormal_respiratory_mucosa | 1.23796376 |
| 68 | MP0005671_abnormal_response_to | 1.23128054 |
| 69 | MP0001764_abnormal_homeostasis | 1.21887716 |
| 70 | MP0005645_abnormal_hypothalamus_physiol | 1.20229082 |
| 71 | MP0001324_abnormal_eye_pigmentation | 1.19673567 |
| 72 | MP0005408_hypopigmentation | 1.19480558 |
| 73 | MP0005025_abnormal_response_to | 1.18727848 |
| 74 | MP0002249_abnormal_larynx_morphology | 1.18281941 |
| 75 | MP0002876_abnormal_thyroid_physiology | 1.17626678 |
| 76 | MP0000465_gastrointestinal_hemorrhage | 1.15729927 |
| 77 | MP0001919_abnormal_reproductive_system | 1.15513807 |
| 78 | MP0001529_abnormal_vocalization | 1.14230003 |
| 79 | MP0003315_abnormal_perineum_morphology | 1.13097798 |
| 80 | MP0004043_abnormal_pH_regulation | 1.11676007 |
| 81 | MP0006036_abnormal_mitochondrial_physio | 1.10428151 |
| 82 | MP0005410_abnormal_fertilization | 1.06222532 |
| 83 | MP0001485_abnormal_pinna_reflex | 1.05261427 |
| 84 | MP0001119_abnormal_female_reproductive | 1.05156886 |
| 85 | MP0004885_abnormal_endolymph | 1.04923321 |
| 86 | MP0003436_decreased_susceptibility_to | 1.04266969 |
| 87 | MP0001853_heart_inflammation | 1.01783934 |
| 88 | MP0008995_early_reproductive_senescence | 1.01737227 |
| 89 | MP0004742_abnormal_vestibular_system | 1.01468938 |
| 90 | MP0000049_abnormal_middle_ear | 1.01087694 |
| 91 | MP0002177_abnormal_outer_ear | 0.97980186 |
| 92 | MP0002210_abnormal_sex_determination | 0.97930805 |
| 93 | MP0004782_abnormal_surfactant_physiolog | 0.97279850 |
| 94 | MP0005332_abnormal_amino_acid | 0.96998896 |
| 95 | MP0005389_reproductive_system_phenotype | 0.96705950 |
| 96 | MP0000685_abnormal_immune_system | 0.96503943 |
| 97 | MP0005377_hearing/vestibular/ear_phenot | 0.95369279 |
| 98 | MP0003878_abnormal_ear_physiology | 0.95369279 |
| 99 | MP0002419_abnormal_innate_immunity | 0.94833712 |
| 100 | MP0000358_abnormal_cell_content/ | 0.94171435 |
| 101 | MP0005085_abnormal_gallbladder_physiolo | 0.93555326 |
| 102 | MP0005000_abnormal_immune_tolerance | 0.93423816 |
| 103 | MP0002723_abnormal_immune_serum | 0.93402725 |
| 104 | MP0002160_abnormal_reproductive_system | 0.93119954 |
| 105 | MP0005397_hematopoietic_system_phenotyp | 0.92831647 |
| 106 | MP0001545_abnormal_hematopoietic_system | 0.92831647 |
| 107 | MP0000647_abnormal_sebaceous_gland | 0.92347378 |
| 108 | MP0000689_abnormal_spleen_morphology | 0.90781777 |
| 109 | MP0003646_muscle_fatigue | 0.90430229 |
| 110 | MP0009745_abnormal_behavioral_response | 0.89577117 |
| 111 | MP0006276_abnormal_autonomic_nervous | 0.87999066 |
| 112 | MP0005464_abnormal_platelet_physiology | 0.87738128 |
| 113 | MP0002735_abnormal_chemical_nociception | 0.86201851 |
| 114 | MP0009764_decreased_sensitivity_to | 0.86179235 |
| 115 | MP0000613_abnormal_salivary_gland | 0.85366077 |
| 116 | MP0001800_abnormal_humoral_immune | 0.85223589 |
| 117 | MP0008469_abnormal_protein_level | 0.84978556 |
| 118 | MP0002398_abnormal_bone_marrow | 0.83571276 |
| 119 | MP0002452_abnormal_antigen_presenting | 0.83242468 |
| 120 | MP0000538_abnormal_urinary_bladder | 0.83225474 |
| 121 | MP0000631_abnormal_neuroendocrine_gland | 0.83004453 |
| 122 | MP0005360_urolithiasis | 0.82678855 |
| 123 | MP0004142_abnormal_muscle_tone | 0.80427245 |
| 124 | MP0002420_abnormal_adaptive_immunity | 0.80384138 |
| 125 | MP0001819_abnormal_immune_cell | 0.80250774 |
| 126 | MP0005195_abnormal_posterior_eye | 0.80191236 |
| 127 | MP0000681_abnormal_thyroid_gland | 0.79439160 |
| 128 | MP0004145_abnormal_muscle_electrophysio | 0.79433013 |
| 129 | MP0001501_abnormal_sleep_pattern | 0.78701283 |
| 130 | MP0002272_abnormal_nervous_system | 0.78650032 |
| 131 | MP0008789_abnormal_olfactory_epithelium | 0.78023364 |
| 132 | MP0008875_abnormal_xenobiotic_pharmacok | 0.77742776 |
| 133 | MP0005266_abnormal_metabolism | 0.77620929 |
| 134 | MP0002722_abnormal_immune_system | 0.77422976 |
| 135 | MP0000230_abnormal_systemic_arterial | 0.76836610 |
| 136 | MP0005379_endocrine/exocrine_gland_phen | 0.76190510 |
| 137 | MP0001905_abnormal_dopamine_level | 0.75738728 |
| 138 | MP0005395_other_phenotype | 0.75557308 |
| 139 | MP0010030_abnormal_orbit_morphology | 0.74834237 |
| 140 | MP0003137_abnormal_impulse_conducting | 0.74821976 |
| 141 | MP0000716_abnormal_immune_system | 0.73927201 |
| 142 | MP0005636_abnormal_mineral_homeostasis | 0.73735859 |
| 143 | MP0000653_abnormal_sex_gland | 0.73712396 |
| 144 | MP0002429_abnormal_blood_cell | 0.73210124 |
| 145 | MP0001929_abnormal_gametogenesis | 0.73149031 |
| 146 | MP0003698_abnormal_male_reproductive | 0.73089403 |
| 147 | MP0003195_calcinosis | 0.72526481 |
| 148 | MP0002019_abnormal_tumor_incidence | 0.72154116 |
| 149 | MP0009840_abnormal_foam_cell | 0.72067609 |
| 150 | MP0004019_abnormal_vitamin_homeostasis | 0.71352990 |
| 151 | MP0000858_altered_metastatic_potential | 0.71249558 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | 3-Methylglutaconic aciduria (HP:0003535) | 4.17803675 |
| 2 | Abnormal number of erythroid precursors (HP:0012131) | 4.04217149 |
| 3 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 4.04169509 |
| 4 | Abnormality of cells of the erythroid lineage (HP:0012130) | 4.00501684 |
| 5 | Pancreatic cysts (HP:0001737) | 3.97482545 |
| 6 | Type I transferrin isoform profile (HP:0003642) | 3.96569282 |
| 7 | Molar tooth sign on MRI (HP:0002419) | 3.92533941 |
| 8 | Abnormality of midbrain morphology (HP:0002418) | 3.92533941 |
| 9 | Reduced antithrombin III activity (HP:0001976) | 3.87081385 |
| 10 | Abnormality of the heme biosynthetic pathway (HP:0010472) | 3.65230914 |
| 11 | Progressive macrocephaly (HP:0004481) | 3.52927771 |
| 12 | Pancreatic fibrosis (HP:0100732) | 3.52440020 |
| 13 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 3.35984776 |
| 14 | Abnormality of alanine metabolism (HP:0010916) | 3.35984776 |
| 15 | Hyperalaninemia (HP:0003348) | 3.35984776 |
| 16 | Congenital stationary night blindness (HP:0007642) | 3.33093359 |
| 17 | Aplastic anemia (HP:0001915) | 3.18017224 |
| 18 | Reticulocytopenia (HP:0001896) | 3.16568740 |
| 19 | Hepatocellular necrosis (HP:0001404) | 3.15282566 |
| 20 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 3.12905804 |
| 21 | Muscle abnormality related to mitochondrial dysfunction (HP:0003800) | 3.11126689 |
| 22 | Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688) | 3.10656056 |
| 23 | Type 2 muscle fiber atrophy (HP:0003554) | 3.07799229 |
| 24 | Nonprogressive disorder (HP:0003680) | 3.00340198 |
| 25 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 3.00045504 |
| 26 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 3.00045504 |
| 27 | Congenital, generalized hypertrichosis (HP:0004540) | 2.94135553 |
| 28 | Chromsome breakage (HP:0040012) | 2.93796439 |
| 29 | Nephronophthisis (HP:0000090) | 2.92382984 |
| 30 | Renal Fanconi syndrome (HP:0001994) | 2.91597580 |
| 31 | Hepatic necrosis (HP:0002605) | 2.90699250 |
| 32 | Increased hepatocellular lipid droplets (HP:0006565) | 2.90233128 |
| 33 | Abnormality of the axillary hair (HP:0100134) | 2.85044990 |
| 34 | Abnormality of secondary sexual hair (HP:0009888) | 2.85044990 |
| 35 | Abnormal protein glycosylation (HP:0012346) | 2.81325845 |
| 36 | Abnormal glycosylation (HP:0012345) | 2.81325845 |
| 37 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 2.81325845 |
| 38 | Abnormal protein N-linked glycosylation (HP:0012347) | 2.81325845 |
| 39 | Mitochondrial inheritance (HP:0001427) | 2.80770937 |
| 40 | Muscle fiber atrophy (HP:0100295) | 2.77868637 |
| 41 | Type II lissencephaly (HP:0007260) | 2.77283914 |
| 42 | Abnormality of the renal cortex (HP:0011035) | 2.71618330 |
| 43 | Concave nail (HP:0001598) | 2.63014361 |
| 44 | Medial flaring of the eyebrow (HP:0010747) | 2.59852454 |
| 45 | Birth length less than 3rd percentile (HP:0003561) | 2.55375113 |
| 46 | Macrocytic anemia (HP:0001972) | 2.51554747 |
| 47 | Exertional dyspnea (HP:0002875) | 2.51049477 |
| 48 | Lipid accumulation in hepatocytes (HP:0006561) | 2.50929950 |
| 49 | Generalized aminoaciduria (HP:0002909) | 2.49690239 |
| 50 | Abnormality of the pons (HP:0007361) | 2.49499490 |
| 51 | Microvesicular hepatic steatosis (HP:0001414) | 2.44134104 |
| 52 | Pallor (HP:0000980) | 2.44115140 |
| 53 | Meckel diverticulum (HP:0002245) | 2.41632611 |
| 54 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 2.40953488 |
| 55 | Petechiae (HP:0000967) | 2.40835270 |
| 56 | Acute necrotizing encephalopathy (HP:0006965) | 2.38901981 |
| 57 | Abnormality of the renal medulla (HP:0100957) | 2.38671326 |
| 58 | Sclerocornea (HP:0000647) | 2.38513879 |
| 59 | Abnormality of the preputium (HP:0100587) | 2.37993609 |
| 60 | Attenuation of retinal blood vessels (HP:0007843) | 2.37395785 |
| 61 | Increased CSF lactate (HP:0002490) | 2.37126124 |
| 62 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 2.36619166 |
| 63 | Large for gestational age (HP:0001520) | 2.35142046 |
| 64 | Prolonged neonatal jaundice (HP:0006579) | 2.34827488 |
| 65 | Increased serum lactate (HP:0002151) | 2.33407679 |
| 66 | Hypoplasia of the pons (HP:0012110) | 2.32254026 |
| 67 | Dry hair (HP:0011359) | 2.28721822 |
| 68 | Prolonged partial thromboplastin time (HP:0003645) | 2.28048088 |
| 69 | Abnormality of the ileum (HP:0001549) | 2.25821658 |
| 70 | Furrowed tongue (HP:0000221) | 2.24356553 |
| 71 | Adrenal hypoplasia (HP:0000835) | 2.23537379 |
| 72 | Respiratory failure (HP:0002878) | 2.23301189 |
| 73 | Pancytopenia (HP:0001876) | 2.22134673 |
| 74 | Renal cortical cysts (HP:0000803) | 2.20184682 |
| 75 | Microcytic anemia (HP:0001935) | 2.19749836 |
| 76 | Abnormality of urine glucose concentration (HP:0011016) | 2.18034835 |
| 77 | Glycosuria (HP:0003076) | 2.18034835 |
| 78 | CNS demyelination (HP:0007305) | 2.12828999 |
| 79 | Increased intramyocellular lipid droplets (HP:0012240) | 2.12373082 |
| 80 | Patchy hypopigmentation of hair (HP:0011365) | 2.12066619 |
| 81 | Pendular nystagmus (HP:0012043) | 2.11808869 |
| 82 | Tubular atrophy (HP:0000092) | 2.11122205 |
| 83 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 2.10527729 |
| 84 | Lethargy (HP:0001254) | 2.10136331 |
| 85 | Cystic liver disease (HP:0006706) | 2.09374567 |
| 86 | Abnormal lung lobation (HP:0002101) | 2.07461354 |
| 87 | Prolonged bleeding time (HP:0003010) | 2.07449634 |
| 88 | Supernumerary spleens (HP:0009799) | 2.06455153 |
| 89 | Abnormal mitochondria in muscle tissue (HP:0008316) | 2.03610280 |
| 90 | Parakeratosis (HP:0001036) | 2.03305652 |
| 91 | Optic disc pallor (HP:0000543) | 2.03252566 |
| 92 | Chronic hepatic failure (HP:0100626) | 2.01258859 |
| 93 | Acute encephalopathy (HP:0006846) | 2.00594987 |
| 94 | Abnormality of pyrimidine metabolism (HP:0004353) | 2.00116190 |
| 95 | Abnormality of renal resorption (HP:0011038) | 1.98595026 |
| 96 | Severe muscular hypotonia (HP:0006829) | 1.98517294 |
| 97 | Sparse eyelashes (HP:0000653) | 1.98066473 |
| 98 | Clubbing of toes (HP:0100760) | 1.97595417 |
| 99 | Anencephaly (HP:0002323) | 1.97570697 |
| 100 | Cerebellar dysplasia (HP:0007033) | 1.96602302 |
| 101 | Microretrognathia (HP:0000308) | 1.96539843 |
| 102 | Oral leukoplakia (HP:0002745) | 1.96462378 |
| 103 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 1.96055949 |
| 104 | Congenital primary aphakia (HP:0007707) | 1.95124810 |
| 105 | Abnormality of aromatic amino acid family metabolism (HP:0004338) | 1.94189793 |
| 106 | Breast hypoplasia (HP:0003187) | 1.93884771 |
| 107 | Patellar aplasia (HP:0006443) | 1.93110037 |
| 108 | Aplasia/Hypoplasia of the patella (HP:0006498) | 1.92999817 |
| 109 | Congenital hepatic fibrosis (HP:0002612) | 1.90338968 |
| 110 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 1.89559298 |
| 111 | Absent/shortened dynein arms (HP:0200106) | 1.89559298 |
| 112 | Aplasia/hypoplasia of the uterus (HP:0008684) | 1.89259728 |
| 113 | Progressive microcephaly (HP:0000253) | 1.88657524 |
| 114 | Abnormality of the prostate (HP:0008775) | 1.88111848 |
| 115 | Absent thumb (HP:0009777) | 1.87555437 |
| 116 | Male pseudohermaphroditism (HP:0000037) | 1.87350173 |
| 117 | Triphalangeal thumb (HP:0001199) | 1.87161861 |
| 118 | Joint hemorrhage (HP:0005261) | 1.86938488 |
| 119 | Lactic acidosis (HP:0003128) | 1.86386148 |
| 120 | Severe visual impairment (HP:0001141) | 1.85940671 |
| 121 | Hypoplasia of the fovea (HP:0007750) | 1.85743948 |
| 122 | Aplasia/Hypoplasia of the fovea (HP:0008060) | 1.85743948 |
| 123 | Abnormality of chromosome stability (HP:0003220) | 1.85696533 |
| 124 | Gait imbalance (HP:0002141) | 1.84589536 |
| 125 | Methylmalonic aciduria (HP:0012120) | 1.84547710 |
| 126 | Opisthotonus (HP:0002179) | 1.84201343 |
| 127 | Nephrogenic diabetes insipidus (HP:0009806) | 1.84018407 |
| 128 | Split foot (HP:0001839) | 1.83344276 |
| 129 | Thyroid-stimulating hormone excess (HP:0002925) | 1.82985506 |
| 130 | True hermaphroditism (HP:0010459) | 1.82975290 |
| 131 | Retinal dysplasia (HP:0007973) | 1.82957047 |
| 132 | Abnormal rod and cone electroretinograms (HP:0008323) | 1.81588842 |
| 133 | White forelock (HP:0002211) | 1.80816483 |
| 134 | Premature graying of hair (HP:0002216) | 1.79338493 |
| 135 | Renal tubular dysfunction (HP:0000124) | 1.77826648 |
| 136 | Recurrent abscess formation (HP:0002722) | 1.77521970 |
| 137 | Bone marrow hypocellularity (HP:0005528) | 1.76895053 |
| 138 | Constricted visual fields (HP:0001133) | 1.76747715 |
| 139 | Short tibia (HP:0005736) | 1.76660394 |
| 140 | Bile duct proliferation (HP:0001408) | 1.76650839 |
| 141 | Abnormal biliary tract physiology (HP:0012439) | 1.76650839 |
| 142 | Hypergonadotropic hypogonadism (HP:0000815) | 1.75441237 |
| 143 | Cerebral edema (HP:0002181) | 1.74907363 |
| 144 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 1.73784816 |
| 145 | Rough bone trabeculation (HP:0100670) | 1.73178970 |
| 146 | Exercise intolerance (HP:0003546) | 1.71574427 |
| 147 | Nausea (HP:0002018) | 1.71232418 |
| 148 | Sex reversal (HP:0012245) | 1.69939373 |
| 149 | Abnormal sex determination (HP:0012244) | 1.69939373 |
| 150 | Aplasia/Hypoplasia of the tibia (HP:0005772) | 1.67791332 |
| 151 | Duplicated collecting system (HP:0000081) | 1.67709759 |
| 152 | Duodenal stenosis (HP:0100867) | 1.67097716 |
| 153 | Small intestinal stenosis (HP:0012848) | 1.67097716 |
| 154 | Respiratory difficulties (HP:0002880) | 1.66576774 |
| 155 | Increased muscle lipid content (HP:0009058) | 1.66037757 |
| 156 | Hypothermia (HP:0002045) | 1.65754981 |
| 157 | Myelodysplasia (HP:0002863) | 1.64592881 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MUSK | 4.63648851 |
| 2 | FRK | 3.89786905 |
| 3 | SRPK1 | 3.74728057 |
| 4 | STK16 | 3.65191701 |
| 5 | NME2 | 3.54153007 |
| 6 | VRK2 | 3.15602505 |
| 7 | BUB1 | 3.04013351 |
| 8 | CASK | 2.67135552 |
| 9 | MAP3K12 | 2.56026270 |
| 10 | TLK1 | 2.47910417 |
| 11 | TNIK | 2.47651157 |
| 12 | MKNK2 | 2.39751755 |
| 13 | VRK1 | 1.94602484 |
| 14 | MKNK1 | 1.94263642 |
| 15 | PLK4 | 1.87071593 |
| 16 | EIF2AK1 | 1.82044931 |
| 17 | IRAK3 | 1.79239931 |
| 18 | IRAK4 | 1.78424751 |
| 19 | MAPKAPK3 | 1.75399617 |
| 20 | WEE1 | 1.74904068 |
| 21 | EIF2AK3 | 1.73813945 |
| 22 | PIM2 | 1.68297240 |
| 23 | TXK | 1.58570002 |
| 24 | ZAK | 1.55015311 |
| 25 | BLK | 1.52554287 |
| 26 | WNK4 | 1.51284644 |
| 27 | NLK | 1.47253673 |
| 28 | ADRBK1 | 1.45435267 |
| 29 | TRIM28 | 1.43160597 |
| 30 | TEC | 1.39751105 |
| 31 | CLK1 | 1.36543868 |
| 32 | DYRK3 | 1.34159479 |
| 33 | INSRR | 1.33983000 |
| 34 | WNK3 | 1.33008666 |
| 35 | EIF2AK2 | 1.32986301 |
| 36 | LIMK1 | 1.27101572 |
| 37 | MAP4K2 | 1.22490114 |
| 38 | MST4 | 1.19774779 |
| 39 | CDK8 | 1.15831466 |
| 40 | NUAK1 | 1.13997348 |
| 41 | PINK1 | 1.11354965 |
| 42 | IRAK1 | 1.10803810 |
| 43 | PBK | 1.09848291 |
| 44 | CDK7 | 1.08899363 |
| 45 | CDK19 | 1.08753425 |
| 46 | KDR | 1.03520140 |
| 47 | BMPR1B | 1.02743233 |
| 48 | GRK1 | 1.00818901 |
| 49 | CAMKK2 | 0.99890690 |
| 50 | MAP4K1 | 0.99403211 |
| 51 | CSNK1G1 | 0.98520595 |
| 52 | YES1 | 0.97473946 |
| 53 | DYRK2 | 0.95807350 |
| 54 | MYLK | 0.93723707 |
| 55 | RPS6KA4 | 0.92578954 |
| 56 | ADRBK2 | 0.92211951 |
| 57 | IKBKB | 0.92021077 |
| 58 | PIM1 | 0.91155344 |
| 59 | PLK3 | 0.91028373 |
| 60 | BCKDK | 0.89153120 |
| 61 | BTK | 0.89115361 |
| 62 | AURKA | 0.89095057 |
| 63 | CDK3 | 0.88901129 |
| 64 | KIT | 0.87866289 |
| 65 | NEK1 | 0.87191807 |
| 66 | CSNK1G2 | 0.83140679 |
| 67 | ACVR1B | 0.83049205 |
| 68 | MAP3K11 | 0.81964001 |
| 69 | TESK2 | 0.81594734 |
| 70 | PLK1 | 0.81570526 |
| 71 | IKBKE | 0.81327742 |
| 72 | MAP3K14 | 0.80500877 |
| 73 | IRAK2 | 0.78886146 |
| 74 | BMPR2 | 0.78841318 |
| 75 | RPS6KA5 | 0.77980552 |
| 76 | AURKB | 0.76946935 |
| 77 | PRKCI | 0.75192335 |
| 78 | PDK2 | 0.72403363 |
| 79 | PTK2B | 0.72372379 |
| 80 | CSNK1G3 | 0.70653749 |
| 81 | PIK3CG | 0.68869049 |
| 82 | BRAF | 0.68650333 |
| 83 | DAPK2 | 0.67156126 |
| 84 | OXSR1 | 0.66678881 |
| 85 | MAPKAPK5 | 0.66666793 |
| 86 | NEK6 | 0.63483709 |
| 87 | CSNK2A1 | 0.60014380 |
| 88 | ABL2 | 0.59738130 |
| 89 | ILK | 0.59193226 |
| 90 | TTK | 0.59130040 |
| 91 | MAPK13 | 0.59069607 |
| 92 | DAPK1 | 0.58785888 |
| 93 | LYN | 0.57788069 |
| 94 | CCNB1 | 0.57008525 |
| 95 | CHEK2 | 0.56804428 |
| 96 | MARK3 | 0.56794080 |
| 97 | NME1 | 0.56543346 |
| 98 | PRKCE | 0.55708429 |
| 99 | BRSK2 | 0.54996374 |
| 100 | TBK1 | 0.53756147 |
| 101 | PRKG2 | 0.52840244 |
| 102 | PKN1 | 0.51090381 |
| 103 | TAOK2 | 0.51005276 |
| 104 | MAP2K7 | 0.50315278 |
| 105 | BRSK1 | 0.49632589 |
| 106 | TGFBR1 | 0.49405341 |
| 107 | PRKCG | 0.49219139 |
| 108 | TIE1 | 0.49167543 |
| 109 | ATR | 0.47258596 |
| 110 | TAOK3 | 0.47023110 |
| 111 | NEK2 | 0.44459563 |
| 112 | TRPM7 | 0.44081381 |
| 113 | DAPK3 | 0.43810983 |
| 114 | CHUK | 0.43369514 |
| 115 | CDK4 | 0.43296968 |
| 116 | CDC7 | 0.42690893 |
| 117 | PRPF4B | 0.42370435 |
| 118 | MAPK4 | 0.42331569 |
| 119 | STK4 | 0.42184754 |
| 120 | EPHA2 | 0.41608175 |
| 121 | PRKCQ | 0.41158052 |
| 122 | MAPK15 | 0.40395421 |
| 123 | GRK7 | 0.39992442 |
| 124 | CSNK1A1L | 0.39192319 |
| 125 | CSNK2A2 | 0.38543465 |
| 126 | PRKD2 | 0.37400009 |
| 127 | MAP3K6 | 0.36844524 |
| 128 | MAP3K4 | 0.36378745 |
| 129 | PAK1 | 0.35751886 |
| 130 | ERBB4 | 0.34229491 |
| 131 | ZAP70 | 0.33159502 |
| 132 | STK39 | 0.33018126 |
| 133 | SYK | 0.32221144 |
| 134 | TNK2 | 0.31296026 |
| 135 | CAMK2A | 0.31061562 |
| 136 | PAK3 | 0.31000680 |
| 137 | PRKACA | 0.29841479 |
| 138 | MAP2K6 | 0.29824885 |
| 139 | CSNK1A1 | 0.29688943 |
| 140 | STK38L | 0.29582070 |
| 141 | TESK1 | 0.27989855 |
| 142 | MAPK11 | 0.27825167 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Ribosome_Homo sapiens_hsa03010 | 4.05933473 |
| 2 | DNA replication_Homo sapiens_hsa03030 | 3.40395420 |
| 3 | Proteasome_Homo sapiens_hsa03050 | 3.09364700 |
| 4 | RNA polymerase_Homo sapiens_hsa03020 | 2.96644593 |
| 5 | Homologous recombination_Homo sapiens_hsa03440 | 2.75195642 |
| 6 | Protein export_Homo sapiens_hsa03060 | 2.42345499 |
| 7 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 2.40350049 |
| 8 | Mismatch repair_Homo sapiens_hsa03430 | 2.27235812 |
| 9 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 2.27187841 |
| 10 | Base excision repair_Homo sapiens_hsa03410 | 2.25362279 |
| 11 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 2.13589089 |
| 12 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 2.12180174 |
| 13 | Nucleotide excision repair_Homo sapiens_hsa03420 | 2.08103522 |
| 14 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 2.06837706 |
| 15 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.95978372 |
| 16 | Folate biosynthesis_Homo sapiens_hsa00790 | 1.95805958 |
| 17 | Basal transcription factors_Homo sapiens_hsa03022 | 1.92597862 |
| 18 | Spliceosome_Homo sapiens_hsa03040 | 1.89809243 |
| 19 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.82249906 |
| 20 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 1.75203316 |
| 21 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.71967693 |
| 22 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.68193563 |
| 23 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.58219178 |
| 24 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.55699598 |
| 25 | Sulfur relay system_Homo sapiens_hsa04122 | 1.54066747 |
| 26 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.48321531 |
| 27 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 1.47197099 |
| 28 | Parkinsons disease_Homo sapiens_hsa05012 | 1.46719228 |
| 29 | Purine metabolism_Homo sapiens_hsa00230 | 1.43165504 |
| 30 | Sulfur metabolism_Homo sapiens_hsa00920 | 1.42351980 |
| 31 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.37855488 |
| 32 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 1.32542844 |
| 33 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.29665359 |
| 34 | RNA degradation_Homo sapiens_hsa03018 | 1.25984777 |
| 35 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 1.24364658 |
| 36 | Cell cycle_Homo sapiens_hsa04110 | 1.21305188 |
| 37 | Huntingtons disease_Homo sapiens_hsa05016 | 1.19758684 |
| 38 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 1.19504928 |
| 39 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.19447296 |
| 40 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.15488434 |
| 41 | RNA transport_Homo sapiens_hsa03013 | 1.13601257 |
| 42 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.13486517 |
| 43 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 1.07939387 |
| 44 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 1.07372173 |
| 45 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 1.06266811 |
| 46 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 1.05607286 |
| 47 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 1.04877874 |
| 48 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.01979888 |
| 49 | Retinol metabolism_Homo sapiens_hsa00830 | 1.00991567 |
| 50 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.00211894 |
| 51 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.96102468 |
| 52 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.96082217 |
| 53 | Peroxisome_Homo sapiens_hsa04146 | 0.94926295 |
| 54 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.94142810 |
| 55 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.93348795 |
| 56 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.91845359 |
| 57 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.91664658 |
| 58 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.90081281 |
| 59 | Histidine metabolism_Homo sapiens_hsa00340 | 0.89719079 |
| 60 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.88496169 |
| 61 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.87103013 |
| 62 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.85384664 |
| 63 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.84914398 |
| 64 | Alzheimers disease_Homo sapiens_hsa05010 | 0.84249020 |
| 65 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.83064461 |
| 66 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.82877619 |
| 67 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.82626303 |
| 68 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.80039232 |
| 69 | Metabolic pathways_Homo sapiens_hsa01100 | 0.79589228 |
| 70 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.79563030 |
| 71 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.79370884 |
| 72 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.78483498 |
| 73 | Allograft rejection_Homo sapiens_hsa05330 | 0.78326805 |
| 74 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.76854646 |
| 75 | Other glycan degradation_Homo sapiens_hsa00511 | 0.74232545 |
| 76 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.73427413 |
| 77 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 0.73257125 |
| 78 | Asthma_Homo sapiens_hsa05310 | 0.70389188 |
| 79 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.70257664 |
| 80 | RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622 | 0.69660268 |
| 81 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 0.68136994 |
| 82 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.66741028 |
| 83 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.66569964 |
| 84 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.65196844 |
| 85 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.64995561 |
| 86 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.63489222 |
| 87 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.63004970 |
| 88 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.59232007 |
| 89 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.56755635 |
| 90 | Measles_Homo sapiens_hsa05162 | 0.56514352 |
| 91 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 0.55341591 |
| 92 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.55078832 |
| 93 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 0.54922560 |
| 94 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.50716128 |
| 95 | Malaria_Homo sapiens_hsa05144 | 0.48214417 |
| 96 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.47893439 |
| 97 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.47888746 |
| 98 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.46898643 |
| 99 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.46384525 |
| 100 | Olfactory transduction_Homo sapiens_hsa04740 | 0.46151825 |
| 101 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.45521016 |
| 102 | Nicotine addiction_Homo sapiens_hsa05033 | 0.45159076 |
| 103 | Mineral absorption_Homo sapiens_hsa04978 | 0.44970278 |
| 104 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 0.44508524 |
| 105 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.44179432 |
| 106 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.43399436 |
| 107 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 0.42558048 |
| 108 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.41939413 |
| 109 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.37253049 |
| 110 | Taste transduction_Homo sapiens_hsa04742 | 0.34419479 |
| 111 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.33975548 |
| 112 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.33705486 |
| 113 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 0.32767179 |
| 114 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.32721761 |
| 115 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.32230373 |
| 116 | Phototransduction_Homo sapiens_hsa04744 | 0.31944454 |
| 117 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.30094740 |
| 118 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.29604372 |
| 119 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.28729800 |
| 120 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.28160971 |
| 121 | ABC transporters_Homo sapiens_hsa02010 | 0.26564391 |

