

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | mitochondrial calcium ion transport (GO:0006851) | 7.61722974 |
| 2 | regulation of cholesterol esterification (GO:0010872) | 7.60260251 |
| 3 | erythrocyte maturation (GO:0043249) | 6.93599131 |
| 4 | mitochondrial calcium ion homeostasis (GO:0051560) | 5.57342952 |
| 5 | hematopoietic stem cell differentiation (GO:0060218) | 5.36960381 |
| 6 | 7-methylguanosine mRNA capping (GO:0006370) | 5.22935161 |
| 7 | termination of RNA polymerase I transcription (GO:0006363) | 5.11574695 |
| 8 | 7-methylguanosine RNA capping (GO:0009452) | 5.10389492 |
| 9 | RNA capping (GO:0036260) | 5.10389492 |
| 10 | UV protection (GO:0009650) | 5.03099019 |
| 11 | DNA excision (GO:0044349) | 4.89118681 |
| 12 | nucleotide-excision repair, DNA damage removal (GO:0000718) | 4.89118681 |
| 13 | transcription-coupled nucleotide-excision repair (GO:0006283) | 4.75605377 |
| 14 | telomere maintenance via semi-conservative replication (GO:0032201) | 4.67479250 |
| 15 | spinal cord development (GO:0021510) | 4.60680494 |
| 16 | DNA deamination (GO:0045006) | 4.54972974 |
| 17 | myelin assembly (GO:0032288) | 4.50804973 |
| 18 | ribosomal small subunit assembly (GO:0000028) | 4.49054422 |
| 19 | anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0 | 4.39773538 |
| 20 | transcription elongation from RNA polymerase I promoter (GO:0006362) | 4.31806183 |
| 21 | cullin deneddylation (GO:0010388) | 4.24213045 |
| 22 | deoxyribonucleoside monophosphate metabolic process (GO:0009162) | 4.18420918 |
| 23 | protein deneddylation (GO:0000338) | 4.14724522 |
| 24 | regulation of cellular amino acid metabolic process (GO:0006521) | 4.14688421 |
| 25 | telomere maintenance via recombination (GO:0000722) | 4.10481899 |
| 26 | DNA damage response, detection of DNA damage (GO:0042769) | 4.08503944 |
| 27 | DNA strand elongation involved in DNA replication (GO:0006271) | 4.08113141 |
| 28 | signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431) | 4.00459424 |
| 29 | intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400) | 4.00459424 |
| 30 | establishment of protein localization to mitochondrial membrane (GO:0090151) | 3.98959257 |
| 31 | DNA strand elongation (GO:0022616) | 3.98548369 |
| 32 | lysosome localization (GO:0032418) | 3.93053280 |
| 33 | chaperone-mediated protein transport (GO:0072321) | 3.92453579 |
| 34 | positive regulation of ubiquitin-protein transferase activity (GO:0051443) | 3.91427446 |
| 35 | mitochondrial electron transport, NADH to ubiquinone (GO:0006120) | 3.89530819 |
| 36 | signal transduction involved in DNA integrity checkpoint (GO:0072401) | 3.88699625 |
| 37 | signal transduction involved in DNA damage checkpoint (GO:0072422) | 3.88699625 |
| 38 | signal transduction involved in cell cycle checkpoint (GO:0072395) | 3.82371243 |
| 39 | respiratory electron transport chain (GO:0022904) | 3.80293197 |
| 40 | transcription from RNA polymerase I promoter (GO:0006360) | 3.79308905 |
| 41 | transcription initiation from RNA polymerase I promoter (GO:0006361) | 3.75998021 |
| 42 | nucleotide-excision repair, DNA gap filling (GO:0006297) | 3.75877269 |
| 43 | electron transport chain (GO:0022900) | 3.74702943 |
| 44 | positive regulation of ligase activity (GO:0051351) | 3.73603095 |
| 45 | DNA-dependent DNA replication (GO:0006261) | 3.71589510 |
| 46 | negative regulation of organelle assembly (GO:1902116) | 3.61457564 |
| 47 | positive regulation of B cell differentiation (GO:0045579) | 3.53587576 |
| 48 | maturation of SSU-rRNA (GO:0030490) | 3.52318028 |
| 49 | mitotic recombination (GO:0006312) | 3.47663639 |
| 50 | polyketide metabolic process (GO:0030638) | 3.46770485 |
| 51 | doxorubicin metabolic process (GO:0044598) | 3.46770485 |
| 52 | daunorubicin metabolic process (GO:0044597) | 3.46770485 |
| 53 | regulation of ubiquitin-protein transferase activity (GO:0051438) | 3.43044581 |
| 54 | proteasome assembly (GO:0043248) | 3.42661345 |
| 55 | mismatch repair (GO:0006298) | 3.40632708 |
| 56 | mitochondrial respiratory chain complex I biogenesis (GO:0097031) | 3.40284694 |
| 57 | mitochondrial respiratory chain complex I assembly (GO:0032981) | 3.40284694 |
| 58 | NADH dehydrogenase complex assembly (GO:0010257) | 3.40284694 |
| 59 | protein targeting to mitochondrion (GO:0006626) | 3.40137211 |
| 60 | L-methionine biosynthetic process from methylthioadenosine (GO:0019509) | 3.38345573 |
| 61 | CENP-A containing nucleosome assembly (GO:0034080) | 3.37134852 |
| 62 | dolichol-linked oligosaccharide biosynthetic process (GO:0006488) | 3.33918128 |
| 63 | mannosylation (GO:0097502) | 3.32856033 |
| 64 | positive regulation of viral transcription (GO:0050434) | 3.32769420 |
| 65 | regulation of ligase activity (GO:0051340) | 3.30146435 |
| 66 | telomere maintenance via telomere lengthening (GO:0010833) | 3.29986543 |
| 67 | transcription elongation from RNA polymerase II promoter (GO:0006368) | 3.29277823 |
| 68 | pseudouridine synthesis (GO:0001522) | 3.29229276 |
| 69 | purine nucleobase biosynthetic process (GO:0009113) | 3.29051340 |
| 70 | rRNA methylation (GO:0031167) | 3.25697029 |
| 71 | protein K6-linked ubiquitination (GO:0085020) | 3.24526153 |
| 72 | nucleotide-excision repair (GO:0006289) | 3.22523415 |
| 73 | DNA damage response, signal transduction by p53 class mediator (GO:0030330) | 3.21918570 |
| 74 | positive regulation of protein homodimerization activity (GO:0090073) | 3.20540547 |
| 75 | mitotic metaphase plate congression (GO:0007080) | 3.20350763 |
| 76 | protein complex biogenesis (GO:0070271) | 3.19285664 |
| 77 | chromatin remodeling at centromere (GO:0031055) | 3.18730133 |
| 78 | DNA replication checkpoint (GO:0000076) | 3.18280466 |
| 79 | cytochrome complex assembly (GO:0017004) | 3.16463926 |
| 80 | ribosome assembly (GO:0042255) | 3.15700566 |
| 81 | tRNA methylation (GO:0030488) | 3.14378746 |
| 82 | RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394) | 3.14230484 |
| 83 | tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) | 3.14230484 |
| 84 | nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291) | 3.13104465 |
| 85 | positive regulation of cell cycle arrest (GO:0071158) | 3.13041004 |
| 86 | adenosine metabolic process (GO:0046085) | 3.12261443 |
| 87 | establishment of protein localization to mitochondrion (GO:0072655) | 3.12044182 |
| 88 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 3.10287519 |
| 89 | protein localization to mitochondrion (GO:0070585) | 3.09912516 |
| 90 | negative regulation of protein ubiquitination (GO:0031397) | 3.09700792 |
| 91 | methionine biosynthetic process (GO:0009086) | 3.04854230 |
| 92 | hair cell differentiation (GO:0035315) | 3.04564249 |
| 93 | methionine metabolic process (GO:0006555) | 3.03857228 |
| 94 | regulation of cellular amine metabolic process (GO:0033238) | 3.03785745 |
| 95 | mitochondrial respiratory chain complex assembly (GO:0033108) | 3.03464911 |
| 96 | amino acid activation (GO:0043038) | 3.03447725 |
| 97 | tRNA aminoacylation (GO:0043039) | 3.03447725 |
| 98 | L-methionine salvage (GO:0071267) | 3.02895768 |
| 99 | L-methionine biosynthetic process (GO:0071265) | 3.02895768 |
| 100 | amino acid salvage (GO:0043102) | 3.02895768 |
| 101 | rRNA processing (GO:0006364) | 3.02586480 |
| 102 | tRNA aminoacylation for protein translation (GO:0006418) | 3.02524335 |
| 103 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO: | 3.02343224 |
| 104 | establishment of integrated proviral latency (GO:0075713) | 3.00978684 |
| 105 | protein neddylation (GO:0045116) | 3.00877545 |
| 106 | water-soluble vitamin biosynthetic process (GO:0042364) | 2.99704481 |
| 107 | metaphase plate congression (GO:0051310) | 2.98766428 |
| 108 | folic acid metabolic process (GO:0046655) | 2.98475113 |
| 109 | deoxyribonucleotide biosynthetic process (GO:0009263) | 2.98078328 |
| 110 | transcription elongation from RNA polymerase III promoter (GO:0006385) | 2.97931520 |
| 111 | termination of RNA polymerase III transcription (GO:0006386) | 2.97931520 |
| 112 | ATP synthesis coupled proton transport (GO:0015986) | 2.96987732 |
| 113 | energy coupled proton transport, down electrochemical gradient (GO:0015985) | 2.96987732 |
| 114 | protein-cofactor linkage (GO:0018065) | 2.96879895 |
| 115 | negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436) | 2.96713350 |
| 116 | purine nucleotide salvage (GO:0032261) | 2.96385473 |
| 117 | deoxyribonucleoside triphosphate metabolic process (GO:0009200) | 2.96370997 |
| 118 | translation (GO:0006412) | 2.94704697 |
| 119 | mitotic sister chromatid segregation (GO:0000070) | 2.94071886 |
| 120 | pteridine-containing compound biosynthetic process (GO:0042559) | 2.93961890 |
| 121 | nucleobase biosynthetic process (GO:0046112) | 2.92667138 |
| 122 | rRNA metabolic process (GO:0016072) | 2.91741102 |
| 123 | respiratory chain complex IV assembly (GO:0008535) | 2.91615264 |
| 124 | regulation of receptor recycling (GO:0001919) | 2.88804718 |
| 125 | cellular component biogenesis (GO:0044085) | 2.88396336 |
| 126 | kinetochore assembly (GO:0051382) | 2.88105930 |
| 127 | DNA ligation (GO:0006266) | 2.87774209 |
| 128 | 2-deoxyribonucleotide biosynthetic process (GO:0009265) | 2.87750223 |
| 129 | deoxyribose phosphate biosynthetic process (GO:0046385) | 2.87750223 |
| 130 | negative regulation of protein modification by small protein conjugation or removal (GO:1903321) | 2.87305147 |
| 131 | DNA catabolic process, exonucleolytic (GO:0000738) | 2.85736571 |
| 132 | pyrimidine deoxyribonucleotide metabolic process (GO:0009219) | 2.85306234 |
| 133 | ribosomal large subunit biogenesis (GO:0042273) | 2.84303320 |
| 134 | establishment of viral latency (GO:0019043) | 2.83273911 |
| 135 | signal transduction in response to DNA damage (GO:0042770) | 2.82571747 |
| 136 | regulation of mitochondrial translation (GO:0070129) | 2.81213699 |
| 137 | tRNA modification (GO:0006400) | 2.80534175 |
| 138 | positive regulation of TOR signaling (GO:0032008) | 2.79683931 |
| 139 | rRNA modification (GO:0000154) | 2.78942485 |
| 140 | DNA-templated transcription, elongation (GO:0006354) | 2.78886681 |
| 141 | regulation of cholesterol efflux (GO:0010874) | 2.76391020 |
| 142 | pyrimidine deoxyribonucleotide catabolic process (GO:0009223) | 2.75181560 |
| 143 | maturation of 5.8S rRNA (GO:0000460) | 2.74749176 |
| 144 | base-excision repair, AP site formation (GO:0006285) | 2.73864136 |
| 145 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 2.72674989 |
| 146 | quinone biosynthetic process (GO:1901663) | 2.71109133 |
| 147 | ubiquinone biosynthetic process (GO:0006744) | 2.71109133 |
| 148 | regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439) | 2.70976117 |
| 149 | viral transcription (GO:0019083) | 2.67743344 |
| 150 | positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437) | 2.66214190 |
| 151 | mitochondrial DNA replication (GO:0006264) | 2.65273728 |
| 152 | spliceosomal snRNP assembly (GO:0000387) | 2.65241466 |
| 153 | DNA-templated transcription, termination (GO:0006353) | 2.64843567 |
| 154 | DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00 | 2.63756829 |
| 155 | tRNA processing (GO:0008033) | 2.63639902 |
| 156 | signal transduction involved in mitotic DNA damage checkpoint (GO:1902402) | 2.63419516 |
| 157 | signal transduction involved in mitotic cell cycle checkpoint (GO:0072413) | 2.63419516 |
| 158 | signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403) | 2.63419516 |
| 159 | viral mRNA export from host cell nucleus (GO:0046784) | 2.62984426 |
| 160 | negative regulation of ubiquitin-protein transferase activity (GO:0051444) | 2.60426377 |
| 161 | negative regulation of ligase activity (GO:0051352) | 2.60426377 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | E2F7_22180533_ChIP-Seq_HELA_Human | 5.74638010 |
| 2 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 5.17607879 |
| 3 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 4.36675034 |
| 4 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 4.29261114 |
| 5 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 4.11875378 |
| 6 | * JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 3.64469300 |
| 7 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 3.42763570 |
| 8 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 3.42670455 |
| 9 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 3.27107884 |
| 10 | * MYC_18358816_ChIP-ChIP_MESCs_Mouse | 3.00951673 |
| 11 | ETS1_20019798_ChIP-Seq_JURKAT_Human | 2.91792051 |
| 12 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 2.79535951 |
| 13 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.72825757 |
| 14 | * HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 2.71835531 |
| 15 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 2.69350468 |
| 16 | SRF_21415370_ChIP-Seq_HL-1_Mouse | 2.60912314 |
| 17 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 2.58445486 |
| 18 | * MYC_19030024_ChIP-ChIP_MESCs_Mouse | 2.51501620 |
| 19 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 2.43063556 |
| 20 | ELF1_17652178_ChIP-ChIP_JURKAT_Human | 2.33437904 |
| 21 | * YY1_21170310_ChIP-Seq_MESCs_Mouse | 2.26805478 |
| 22 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.26734143 |
| 23 | * FOXP3_21729870_ChIP-Seq_TREG_Human | 2.24792102 |
| 24 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 2.23852396 |
| 25 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 2.21842448 |
| 26 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 2.13700852 |
| 27 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 2.10609519 |
| 28 | * VDR_23849224_ChIP-Seq_CD4+_Human | 2.05336471 |
| 29 | CIITA_25753668_ChIP-Seq_RAJI_Human | 2.04412444 |
| 30 | SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse | 1.98310224 |
| 31 | FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse | 1.97087347 |
| 32 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 1.95713580 |
| 33 | E2F1_18555785_ChIP-Seq_MESCs_Mouse | 1.95615886 |
| 34 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 1.95047566 |
| 35 | PDX1_19855005_ChIP-ChIP_MIN6_Mouse | 1.93189877 |
| 36 | PADI4_21655091_ChIP-ChIP_MCF-7_Human | 1.91787500 |
| 37 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 1.84268183 |
| 38 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.83514318 |
| 39 | FLI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.82269642 |
| 40 | DCP1A_22483619_ChIP-Seq_HELA_Human | 1.78412734 |
| 41 | ZFP42_18358816_ChIP-ChIP_MESCs_Mouse | 1.75924760 |
| 42 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 1.75659007 |
| 43 | NOTCH1_21737748_ChIP-Seq_TLL_Human | 1.69909163 |
| 44 | XRN2_22483619_ChIP-Seq_HELA_Human | 1.67089101 |
| 45 | GABP_19822575_ChIP-Seq_HepG2_Human | 1.65532008 |
| 46 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.59016720 |
| 47 | * YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.58727571 |
| 48 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.58387053 |
| 49 | HOXB4_20404135_ChIP-ChIP_EML_Mouse | 1.51194596 |
| 50 | CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 1.51099611 |
| 51 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.48798750 |
| 52 | * TAL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.45371874 |
| 53 | SCL_19346495_ChIP-Seq_HPC-7_Human | 1.43824693 |
| 54 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.43377719 |
| 55 | ELK1_19687146_ChIP-ChIP_HELA_Human | 1.37166342 |
| 56 | POU5F1_18358816_ChIP-ChIP_MESCs_Mouse | 1.33076651 |
| 57 | * MYCN_18555785_ChIP-Seq_MESCs_Mouse | 1.31803428 |
| 58 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.29109575 |
| 59 | STAT1_20625510_ChIP-Seq_HELA_Human | 1.28222590 |
| 60 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.27963753 |
| 61 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.27667287 |
| 62 | CEBPB_24764292_ChIP-Seq_MC3T3_Mouse | 1.27269903 |
| 63 | * MYC_18940864_ChIP-ChIP_HL60_Human | 1.25972998 |
| 64 | ERG_20887958_ChIP-Seq_HPC-7_Mouse | 1.24955097 |
| 65 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.23643233 |
| 66 | EWS_26573619_Chip-Seq_HEK293_Human | 1.21666711 |
| 67 | NANOG_18555785_ChIP-Seq_MESCs_Mouse | 1.16919564 |
| 68 | SPI1_22096565_ChIP-ChIP_GC-B_Mouse | 1.16565411 |
| 69 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.14451875 |
| 70 | VDR_22108803_ChIP-Seq_LS180_Human | 1.12884147 |
| 71 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.12396716 |
| 72 | LYL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.11606966 |
| 73 | KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 1.10307859 |
| 74 | EGR1_23403033_ChIP-Seq_LIVER_Mouse | 1.08677284 |
| 75 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.08285328 |
| 76 | CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human | 1.08059845 |
| 77 | * SFPI1_20887958_ChIP-Seq_HPC-7_Mouse | 1.06690527 |
| 78 | CTCF_18555785_ChIP-Seq_MESCs_Mouse | 1.06389116 |
| 79 | CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons | 1.06241154 |
| 80 | IRF8_22096565_ChIP-ChIP_GC-B_Mouse | 1.04530894 |
| 81 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 1.03301892 |
| 82 | MEIS1_20887958_ChIP-Seq_HPC-7_Mouse | 1.03274277 |
| 83 | FUS_26573619_Chip-Seq_HEK293_Human | 1.01520238 |
| 84 | BCL3_23251550_ChIP-Seq_MUSCLE_Mouse | 1.01137312 |
| 85 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 1.00199736 |
| 86 | GFI1B_20887958_ChIP-Seq_HPC-7_Mouse | 0.98468967 |
| 87 | FOXO1_23066095_ChIP-Seq_LIVER_Mouse | 0.98436727 |
| 88 | SOX2_18555785_ChIP-Seq_MESCs_Mouse | 0.96832106 |
| 89 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 0.95614721 |
| 90 | KDM5A_27292631_Chip-Seq_BREAST_Human | 0.92721953 |
| 91 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 0.90468258 |
| 92 | HNF4A_19761587_ChIP-ChIP_CACO-2_Human | 0.90029489 |
| 93 | ZFX_18555785_ChIP-Seq_MESCs_Mouse | 0.89671747 |
| 94 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 0.87452190 |
| 95 | * ASH2L_23239880_ChIP-Seq_MESCs_Mouse | 0.86521933 |
| 96 | LMO2_20887958_ChIP-Seq_HPC-7_Mouse | 0.85532362 |
| 97 | PRDM5_23873026_ChIP-Seq_MEFs_Mouse | 0.84242951 |
| 98 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 0.84044272 |
| 99 | CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse | 0.82822711 |
| 100 | SIN3A_21632747_ChIP-Seq_MESCs_Mouse | 0.81986868 |
| 101 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 0.81413860 |
| 102 | SPI1_23547873_ChIP-Seq_NB4_Human | 0.81376990 |
| 103 | ELF5_23300383_ChIP-Seq_T47D_Human | 0.80605529 |
| 104 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 0.80044227 |
| 105 | E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human | 0.79651097 |
| 106 | SOX17_20123909_ChIP-Seq_XEN_Mouse | 0.78015322 |
| 107 | * GATA3_21867929_ChIP-Seq_CD8_Mouse | 0.77064216 |
| 108 | ELK1_22589737_ChIP-Seq_MCF10A_Human | 0.77010597 |
| 109 | KLF4_19030024_ChIP-ChIP_MESCs_Mouse | 0.76626589 |
| 110 | TP53_22573176_ChIP-Seq_HFKS_Human | 0.74680852 |
| 111 | PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse | 0.73910108 |
| 112 | FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 0.73133314 |
| 113 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 0.73059354 |
| 114 | TFEB_21752829_ChIP-Seq_HELA_Human | 0.71728562 |
| 115 | TBX5_21415370_ChIP-Seq_HL-1_Mouse | 0.70712497 |
| 116 | ASXL1_24218140_ChIP-Seq_BMDM_Mouse | 0.69441125 |
| 117 | SALL4_22934838_ChIP-ChIP_CD34+_Human | 0.66985755 |
| 118 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 0.66026165 |
| 119 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 0.64458067 |
| 120 | AR_20517297_ChIP-Seq_VCAP_Human | 0.64242167 |
| 121 | * ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 0.64061676 |
| 122 | ATF3_23680149_ChIP-Seq_GBM1-GSC_Human | 0.63192819 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0002938_white_spotting | 4.58390099 |
| 2 | MP0000013_abnormal_adipose_tissue | 4.30171836 |
| 3 | MP0002102_abnormal_ear_morphology | 4.24698854 |
| 4 | MP0008058_abnormal_DNA_repair | 3.77696180 |
| 5 | MP0003878_abnormal_ear_physiology | 3.76971286 |
| 6 | MP0005377_hearing/vestibular/ear_phenot | 3.76971286 |
| 7 | MP0006292_abnormal_olfactory_placode | 3.57013356 |
| 8 | MP0003786_premature_aging | 3.45394828 |
| 9 | MP0003693_abnormal_embryo_hatching | 2.42330897 |
| 10 | MP0000566_synostosis | 2.37873728 |
| 11 | MP0010094_abnormal_chromosome_stability | 2.30704569 |
| 12 | MP0003111_abnormal_nucleus_morphology | 2.27565528 |
| 13 | MP0002132_abnormal_respiratory_system | 2.26007984 |
| 14 | MP0010307_abnormal_tumor_latency | 2.10282399 |
| 15 | MP0002163_abnormal_gland_morphology | 2.04787421 |
| 16 | MP0005084_abnormal_gallbladder_morpholo | 2.02912848 |
| 17 | MP0001835_abnormal_antigen_presentation | 1.95071216 |
| 18 | MP0005645_abnormal_hypothalamus_physiol | 1.87533560 |
| 19 | MP0009697_abnormal_copulation | 1.86008146 |
| 20 | MP0002638_abnormal_pupillary_reflex | 1.77987268 |
| 21 | MP0008007_abnormal_cellular_replicative | 1.77021606 |
| 22 | MP0005379_endocrine/exocrine_gland_phen | 1.75492787 |
| 23 | MP0002138_abnormal_hepatobiliary_system | 1.73163968 |
| 24 | MP0008789_abnormal_olfactory_epithelium | 1.67116819 |
| 25 | MP0003950_abnormal_plasma_membrane | 1.64182794 |
| 26 | MP0006036_abnormal_mitochondrial_physio | 1.63777284 |
| 27 | MP0003879_abnormal_hair_cell | 1.62016937 |
| 28 | MP0006276_abnormal_autonomic_nervous | 1.60002762 |
| 29 | MP0001485_abnormal_pinna_reflex | 1.59553047 |
| 30 | MP0009379_abnormal_foot_pigmentation | 1.59335379 |
| 31 | MP0000358_abnormal_cell_content/ | 1.56862694 |
| 32 | MP0005408_hypopigmentation | 1.56217747 |
| 33 | MP0005646_abnormal_pituitary_gland | 1.53110166 |
| 34 | MP0003077_abnormal_cell_cycle | 1.53107045 |
| 35 | MP0005360_urolithiasis | 1.50626089 |
| 36 | MP0001529_abnormal_vocalization | 1.49395586 |
| 37 | MP0003186_abnormal_redox_activity | 1.48194050 |
| 38 | MP0002396_abnormal_hematopoietic_system | 1.47220945 |
| 39 | MP0003806_abnormal_nucleotide_metabolis | 1.45636600 |
| 40 | MP0002837_dystrophic_cardiac_calcinosis | 1.45399924 |
| 41 | MP0003195_calcinosis | 1.44358173 |
| 42 | MP0005365_abnormal_bile_salt | 1.42630515 |
| 43 | MP0006072_abnormal_retinal_apoptosis | 1.39641088 |
| 44 | MP0000003_abnormal_adipose_tissue | 1.36201594 |
| 45 | MP0008995_early_reproductive_senescence | 1.34518993 |
| 46 | MP0008057_abnormal_DNA_replication | 1.29903307 |
| 47 | MP0003646_muscle_fatigue | 1.28842548 |
| 48 | MP0005174_abnormal_tail_pigmentation | 1.27842994 |
| 49 | MP0003890_abnormal_embryonic-extraembry | 1.25725130 |
| 50 | MP0005332_abnormal_amino_acid | 1.24425737 |
| 51 | MP0004147_increased_porphyrin_level | 1.24370164 |
| 52 | MP0005499_abnormal_olfactory_system | 1.23490487 |
| 53 | MP0005394_taste/olfaction_phenotype | 1.23490487 |
| 54 | MP0001929_abnormal_gametogenesis | 1.20583163 |
| 55 | MP0000749_muscle_degeneration | 1.15663879 |
| 56 | MP0000350_abnormal_cell_proliferation | 1.14104658 |
| 57 | MP0005075_abnormal_melanosome_morpholog | 1.13336959 |
| 58 | MP0001188_hyperpigmentation | 1.12914645 |
| 59 | MP0001764_abnormal_homeostasis | 1.12230644 |
| 60 | MP0001984_abnormal_olfaction | 1.11667894 |
| 61 | MP0004957_abnormal_blastocyst_morpholog | 1.10195040 |
| 62 | MP0003656_abnormal_erythrocyte_physiolo | 1.09968067 |
| 63 | MP0002254_reproductive_system_inflammat | 1.08821848 |
| 64 | MP0001730_embryonic_growth_arrest | 1.07220755 |
| 65 | MP0005085_abnormal_gallbladder_physiolo | 1.06566532 |
| 66 | MP0004142_abnormal_muscle_tone | 1.03274052 |
| 67 | MP0001727_abnormal_embryo_implantation | 1.01259272 |
| 68 | MP0000015_abnormal_ear_pigmentation | 1.01141947 |
| 69 | MP0005266_abnormal_metabolism | 1.00298792 |
| 70 | MP0005395_other_phenotype | 0.99579661 |
| 71 | MP0001986_abnormal_taste_sensitivity | 0.98968324 |
| 72 | MP0010386_abnormal_urinary_bladder | 0.98946543 |
| 73 | MP0002148_abnormal_hypersensitivity_rea | 0.95507068 |
| 74 | MP0001346_abnormal_lacrimal_gland | 0.93747329 |
| 75 | MP0008873_increased_physiological_sensi | 0.92454289 |
| 76 | MP0001697_abnormal_embryo_size | 0.92093799 |
| 77 | MP0002751_abnormal_autonomic_nervous | 0.91988113 |
| 78 | MP0003763_abnormal_thymus_physiology | 0.91964269 |
| 79 | MP0006035_abnormal_mitochondrial_morpho | 0.91861679 |
| 80 | MP0001324_abnormal_eye_pigmentation | 0.88800327 |
| 81 | MP0009333_abnormal_splenocyte_physiolog | 0.88655939 |
| 82 | MP0005410_abnormal_fertilization | 0.87708350 |
| 83 | MP0002210_abnormal_sex_determination | 0.87155477 |
| 84 | MP0008875_abnormal_xenobiotic_pharmacok | 0.86849286 |
| 85 | MP0002735_abnormal_chemical_nociception | 0.86679780 |
| 86 | MP0003880_abnormal_central_pattern | 0.86505927 |
| 87 | MP0000613_abnormal_salivary_gland | 0.86192617 |
| 88 | MP0002234_abnormal_pharynx_morphology | 0.86001164 |
| 89 | MP0000689_abnormal_spleen_morphology | 0.85726369 |
| 90 | MP0001881_abnormal_mammary_gland | 0.85432776 |
| 91 | MP0002398_abnormal_bone_marrow | 0.85159673 |
| 92 | MP0001119_abnormal_female_reproductive | 0.83463647 |
| 93 | MP0001800_abnormal_humoral_immune | 0.82217592 |
| 94 | MP0003724_increased_susceptibility_to | 0.82084146 |
| 95 | MP0009046_muscle_twitch | 0.81953617 |
| 96 | MP0004133_heterotaxia | 0.81325025 |
| 97 | MP0001919_abnormal_reproductive_system | 0.80926804 |
| 98 | MP0003718_maternal_effect | 0.80470948 |
| 99 | MP0008932_abnormal_embryonic_tissue | 0.80138234 |
| 100 | MP0002095_abnormal_skin_pigmentation | 0.80088753 |
| 101 | MP0005220_abnormal_exocrine_pancreas | 0.79164597 |
| 102 | MP0005551_abnormal_eye_electrophysiolog | 0.79002833 |
| 103 | MP0003011_delayed_dark_adaptation | 0.78898342 |
| 104 | MP0009785_altered_susceptibility_to | 0.76024021 |
| 105 | MP0002019_abnormal_tumor_incidence | 0.75941281 |
| 106 | MP0005671_abnormal_response_to | 0.75891424 |
| 107 | MP0000049_abnormal_middle_ear | 0.75469310 |
| 108 | MP0005253_abnormal_eye_physiology | 0.74196052 |
| 109 | MP0002429_abnormal_blood_cell | 0.74042036 |
| 110 | MP0002722_abnormal_immune_system | 0.73448598 |
| 111 | MP0002160_abnormal_reproductive_system | 0.73340412 |
| 112 | MP0001145_abnormal_male_reproductive | 0.73273022 |
| 113 | MP0001873_stomach_inflammation | 0.73116934 |
| 114 | MP0003787_abnormal_imprinting | 0.72076680 |
| 115 | MP0008872_abnormal_physiological_respon | 0.71787354 |
| 116 | MP0002006_tumorigenesis | 0.71725602 |
| 117 | MP0000653_abnormal_sex_gland | 0.70838664 |
| 118 | MP0000372_irregular_coat_pigmentation | 0.70769295 |
| 119 | MP0005647_abnormal_sex_gland | 0.69426595 |
| 120 | MP0003698_abnormal_male_reproductive | 0.69188910 |
| 121 | MP0003943_abnormal_hepatobiliary_system | 0.68819025 |
| 122 | MP0004134_abnormal_chest_morphology | 0.68764044 |
| 123 | MP0002080_prenatal_lethality | 0.68271309 |
| 124 | MP0000490_abnormal_crypts_of | 0.67408160 |
| 125 | MP0001853_heart_inflammation | 0.66562230 |
| 126 | MP0004742_abnormal_vestibular_system | 0.66523208 |
| 127 | MP0004782_abnormal_surfactant_physiolog | 0.66410467 |
| 128 | MP0002139_abnormal_hepatobiliary_system | 0.66126024 |
| 129 | MP0002452_abnormal_antigen_presenting | 0.65817684 |
| 130 | MP0005636_abnormal_mineral_homeostasis | 0.65386207 |
| 131 | MP0008877_abnormal_DNA_methylation | 0.64115924 |
| 132 | MP0000716_abnormal_immune_system | 0.63963493 |
| 133 | MP0001293_anophthalmia | 0.63560547 |
| 134 | MP0003123_paternal_imprinting | 0.62534001 |
| 135 | MP0002249_abnormal_larynx_morphology | 0.62273229 |
| 136 | MP0002420_abnormal_adaptive_immunity | 0.61675909 |
| 137 | MP0002277_abnormal_respiratory_mucosa | 0.60876128 |
| 138 | MP0005389_reproductive_system_phenotype | 0.60753477 |
| 139 | MP0010030_abnormal_orbit_morphology | 0.60531050 |
| 140 | MP0003699_abnormal_female_reproductive | 0.60187775 |
| 141 | MP0001819_abnormal_immune_cell | 0.60001359 |
| 142 | MP0000313_abnormal_cell_death | 0.59850112 |
| 143 | MP0001905_abnormal_dopamine_level | 0.59193879 |
| 144 | MP0003936_abnormal_reproductive_system | 0.59149722 |
| 145 | MP0001944_abnormal_pancreas_morphology | 0.58311165 |
| 146 | MP0003137_abnormal_impulse_conducting | 0.58059288 |
| 147 | MP0000647_abnormal_sebaceous_gland | 0.56978253 |
| 148 | MP0002269_muscular_atrophy | 0.56938214 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Entropion (HP:0000621) | 7.17467217 |
| 2 | Poikiloderma (HP:0001029) | 6.78378701 |
| 3 | Abnormality of DNA repair (HP:0003254) | 6.73730778 |
| 4 | Congenital nonbullous ichthyosiform erythroderma (HP:0007479) | 5.50875591 |
| 5 | Prominent metopic ridge (HP:0005487) | 5.02533926 |
| 6 | Abnormality of the metopic suture (HP:0005556) | 4.53054504 |
| 7 | Generalized aminoaciduria (HP:0002909) | 4.23956403 |
| 8 | Decreased subcutaneous fat (HP:0001002) | 4.15963471 |
| 9 | Renal Fanconi syndrome (HP:0001994) | 4.05474060 |
| 10 | Erythroderma (HP:0001019) | 3.86848080 |
| 11 | Methylmalonic acidemia (HP:0002912) | 3.69399222 |
| 12 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 3.56516477 |
| 13 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 3.56516477 |
| 14 | Abnormal number of erythroid precursors (HP:0012131) | 3.48248747 |
| 15 | Congenital ichthyosiform erythroderma (HP:0007431) | 3.47658621 |
| 16 | Aplastic anemia (HP:0001915) | 3.41940143 |
| 17 | Fragile nails (HP:0001808) | 3.38669198 |
| 18 | Abnormality of cells of the erythroid lineage (HP:0012130) | 3.35294615 |
| 19 | Increased intramyocellular lipid droplets (HP:0012240) | 3.35174455 |
| 20 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 3.30960808 |
| 21 | 3-Methylglutaconic aciduria (HP:0003535) | 3.26401812 |
| 22 | Keratitis (HP:0000491) | 3.23740338 |
| 23 | Abnormality of the heme biosynthetic pathway (HP:0010472) | 3.18647266 |
| 24 | Methylmalonic aciduria (HP:0012120) | 3.16856566 |
| 25 | Abnormality of subcutaneous fat tissue (HP:0001001) | 3.06964403 |
| 26 | IgG deficiency (HP:0004315) | 3.04854705 |
| 27 | Chromsome breakage (HP:0040012) | 3.01947959 |
| 28 | Birth length less than 3rd percentile (HP:0003561) | 3.00936537 |
| 29 | Primitive reflexes (palmomental, snout, glabellar) (HP:0002476) | 3.00604006 |
| 30 | Ectropion (HP:0000656) | 3.00508222 |
| 31 | Progressive macrocephaly (HP:0004481) | 2.96251934 |
| 32 | Death in childhood (HP:0003819) | 2.91657052 |
| 33 | Thyroid-stimulating hormone excess (HP:0002925) | 2.90275254 |
| 34 | Hepatocellular necrosis (HP:0001404) | 2.80811776 |
| 35 | Respiratory failure (HP:0002878) | 2.80702227 |
| 36 | Hepatic necrosis (HP:0002605) | 2.74106903 |
| 37 | Mitochondrial inheritance (HP:0001427) | 2.73805316 |
| 38 | Abnormality of glycolysis (HP:0004366) | 2.73608317 |
| 39 | Acute necrotizing encephalopathy (HP:0006965) | 2.73495399 |
| 40 | Abnormal gallbladder physiology (HP:0012438) | 2.71784934 |
| 41 | Cholecystitis (HP:0001082) | 2.71784934 |
| 42 | Increased serum pyruvate (HP:0003542) | 2.68964114 |
| 43 | Increased muscle lipid content (HP:0009058) | 2.62962353 |
| 44 | Abnormality of methionine metabolism (HP:0010901) | 2.62207336 |
| 45 | Stomach cancer (HP:0012126) | 2.61108360 |
| 46 | Type I transferrin isoform profile (HP:0003642) | 2.59767761 |
| 47 | Increased CSF lactate (HP:0002490) | 2.56109432 |
| 48 | Recurrent corneal erosions (HP:0000495) | 2.53451781 |
| 49 | Reticulocytopenia (HP:0001896) | 2.48801786 |
| 50 | Brittle hair (HP:0002299) | 2.48778753 |
| 51 | Abnormality of renal resorption (HP:0011038) | 2.42116704 |
| 52 | Abnormal mitochondria in muscle tissue (HP:0008316) | 2.41961531 |
| 53 | CNS demyelination (HP:0007305) | 2.41550153 |
| 54 | Increased serum lactate (HP:0002151) | 2.41470397 |
| 55 | Muscle abnormality related to mitochondrial dysfunction (HP:0003800) | 2.41100105 |
| 56 | Degeneration of anterior horn cells (HP:0002398) | 2.39554267 |
| 57 | Abnormality of the anterior horn cell (HP:0006802) | 2.39554267 |
| 58 | Abnormality of the labia minora (HP:0012880) | 2.37155006 |
| 59 | Nephroblastoma (Wilms tumor) (HP:0002667) | 2.35714043 |
| 60 | Pancreatic cysts (HP:0001737) | 2.35603617 |
| 61 | Optic disc pallor (HP:0000543) | 2.32712456 |
| 62 | Abnormality of the pons (HP:0007361) | 2.32679062 |
| 63 | Increased hepatocellular lipid droplets (HP:0006565) | 2.32214002 |
| 64 | Lethargy (HP:0001254) | 2.31389475 |
| 65 | Abnormality of vitamin B metabolism (HP:0004340) | 2.29697449 |
| 66 | Acute encephalopathy (HP:0006846) | 2.21692087 |
| 67 | Abnormality of chromosome stability (HP:0003220) | 2.18791620 |
| 68 | Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688) | 2.18180274 |
| 69 | Abnormality of aspartate family amino acid metabolism (HP:0010899) | 2.17714088 |
| 70 | Cone-rod dystrophy (HP:0000548) | 2.17648673 |
| 71 | Lactic acidosis (HP:0003128) | 2.15752463 |
| 72 | Embryonal renal neoplasm (HP:0011794) | 2.15387972 |
| 73 | Abnormality of urine glucose concentration (HP:0011016) | 2.14166377 |
| 74 | Glycosuria (HP:0003076) | 2.14166377 |
| 75 | Short tibia (HP:0005736) | 2.14092277 |
| 76 | Duplicated collecting system (HP:0000081) | 2.13282888 |
| 77 | Pallor (HP:0000980) | 2.12562121 |
| 78 | Abnormality of the renal collecting system (HP:0004742) | 2.12555139 |
| 79 | Hypoplasia of the pons (HP:0012110) | 2.11480513 |
| 80 | Abnormality of pyrimidine metabolism (HP:0004353) | 2.11197663 |
| 81 | Abnormality of the vitamin B12 metabolism (HP:0004341) | 2.11185096 |
| 82 | Pancreatic fibrosis (HP:0100732) | 2.08777571 |
| 83 | Reduced antithrombin III activity (HP:0001976) | 2.08461439 |
| 84 | Small intestinal stenosis (HP:0012848) | 2.07107366 |
| 85 | Duodenal stenosis (HP:0100867) | 2.07107366 |
| 86 | Leukodystrophy (HP:0002415) | 2.06273168 |
| 87 | Medial flaring of the eyebrow (HP:0010747) | 2.04962909 |
| 88 | Male infertility (HP:0003251) | 2.04293233 |
| 89 | Abnormality of midbrain morphology (HP:0002418) | 2.03561840 |
| 90 | Molar tooth sign on MRI (HP:0002419) | 2.03561840 |
| 91 | Lipid accumulation in hepatocytes (HP:0006561) | 2.02275665 |
| 92 | Abnormality of fatty-acid metabolism (HP:0004359) | 2.00604969 |
| 93 | Abnormality of alanine metabolism (HP:0010916) | 1.98497921 |
| 94 | Hyperalaninemia (HP:0003348) | 1.98497921 |
| 95 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 1.98497921 |
| 96 | Scrotal hypoplasia (HP:0000046) | 1.97664546 |
| 97 | Failure to thrive in infancy (HP:0001531) | 1.97003303 |
| 98 | Exertional dyspnea (HP:0002875) | 1.96994589 |
| 99 | Oral leukoplakia (HP:0002745) | 1.96919978 |
| 100 | Nausea (HP:0002018) | 1.96758829 |
| 101 | Conjugated hyperbilirubinemia (HP:0002908) | 1.96536044 |
| 102 | Hyperglycinemia (HP:0002154) | 1.94359293 |
| 103 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 1.92555595 |
| 104 | Microretrognathia (HP:0000308) | 1.89851036 |
| 105 | Macrocytic anemia (HP:0001972) | 1.89739201 |
| 106 | Cerebral palsy (HP:0100021) | 1.89623472 |
| 107 | Abnormality of the fovea (HP:0000493) | 1.89310141 |
| 108 | Abnormal protein glycosylation (HP:0012346) | 1.89297099 |
| 109 | Abnormal glycosylation (HP:0012345) | 1.89297099 |
| 110 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 1.89297099 |
| 111 | Abnormal protein N-linked glycosylation (HP:0012347) | 1.89297099 |
| 112 | Abnormality of the preputium (HP:0100587) | 1.88478292 |
| 113 | Microvesicular hepatic steatosis (HP:0001414) | 1.86018550 |
| 114 | Abnormality of the duodenum (HP:0002246) | 1.85042547 |
| 115 | Muscle fiber atrophy (HP:0100295) | 1.84685690 |
| 116 | Aplasia/Hypoplasia of the tibia (HP:0005772) | 1.84403858 |
| 117 | Conjunctival hamartoma (HP:0100780) | 1.83552753 |
| 118 | Abnormal lung lobation (HP:0002101) | 1.83192344 |
| 119 | Alveolar cell carcinoma (HP:0006519) | 1.82841156 |
| 120 | Aplasia/Hypoplasia of the fovea (HP:0008060) | 1.81667184 |
| 121 | Hypoplasia of the fovea (HP:0007750) | 1.81667184 |
| 122 | Exercise intolerance (HP:0003546) | 1.81650120 |
| 123 | Dicarboxylic aciduria (HP:0003215) | 1.80873628 |
| 124 | Abnormality of dicarboxylic acid metabolism (HP:0010995) | 1.80873628 |
| 125 | True hermaphroditism (HP:0010459) | 1.80548220 |
| 126 | Abnormality of serum amino acid levels (HP:0003112) | 1.80493339 |
| 127 | Emotional lability (HP:0000712) | 1.79678128 |
| 128 | Hypophosphatemic rickets (HP:0004912) | 1.79612712 |
| 129 | Absent thumb (HP:0009777) | 1.78009139 |
| 130 | Clubbing of toes (HP:0100760) | 1.77512953 |
| 131 | Abnormality of sulfur amino acid metabolism (HP:0004339) | 1.76562680 |
| 132 | Abnormality of the costochondral junction (HP:0000919) | 1.76210960 |
| 133 | B lymphocytopenia (HP:0010976) | 1.75748169 |
| 134 | Cerebral edema (HP:0002181) | 1.73908776 |
| 135 | Breast hypoplasia (HP:0003187) | 1.73290018 |
| 136 | Meckel diverticulum (HP:0002245) | 1.72912274 |
| 137 | Abnormality of placental membranes (HP:0011409) | 1.72237928 |
| 138 | Amniotic constriction ring (HP:0009775) | 1.72237928 |
| 139 | Secondary amenorrhea (HP:0000869) | 1.70488230 |
| 140 | Testicular atrophy (HP:0000029) | 1.70445075 |
| 141 | Cutaneous photosensitivity (HP:0000992) | 1.69841987 |
| 142 | Optic nerve coloboma (HP:0000588) | 1.69709604 |
| 143 | Myelodysplasia (HP:0002863) | 1.68467205 |
| 144 | Abnormality of the septum pellucidum (HP:0007375) | 1.66630416 |
| 145 | Abnormality of the ileum (HP:0001549) | 1.65892381 |
| 146 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 1.63352354 |
| 147 | 11 pairs of ribs (HP:0000878) | 1.62195419 |
| 148 | Pancytopenia (HP:0001876) | 1.61935739 |
| 149 | Triphalangeal thumb (HP:0001199) | 1.61143814 |
| 150 | Hyponatremia (HP:0002902) | 1.60590732 |
| 151 | Septo-optic dysplasia (HP:0100842) | 1.59670476 |
| 152 | Respiratory difficulties (HP:0002880) | 1.59470906 |
| 153 | Type 2 muscle fiber atrophy (HP:0003554) | 1.55885923 |
| 154 | Female pseudohermaphroditism (HP:0010458) | 1.54687216 |
| 155 | Megaloblastic anemia (HP:0001889) | 1.53390146 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | BUB1 | 4.07996905 |
| 2 | STK16 | 3.73122447 |
| 3 | IRAK2 | 3.37820120 |
| 4 | NEK1 | 3.18536699 |
| 5 | MST4 | 3.07733063 |
| 6 | VRK2 | 3.04566380 |
| 7 | CASK | 2.81783093 |
| 8 | PINK1 | 2.79965327 |
| 9 | TRIM28 | 2.78642678 |
| 10 | SRPK1 | 2.76882227 |
| 11 | BRAF | 2.69208393 |
| 12 | TNIK | 2.52053431 |
| 13 | NME2 | 2.46062543 |
| 14 | CDK8 | 2.44474713 |
| 15 | PBK | 2.29462096 |
| 16 | IRAK4 | 2.14799175 |
| 17 | MKNK2 | 2.14456285 |
| 18 | VRK1 | 2.03051645 |
| 19 | PDK2 | 1.82080878 |
| 20 | ZAK | 1.80988912 |
| 21 | BMPR1B | 1.79735795 |
| 22 | IRAK3 | 1.79180163 |
| 23 | MKNK1 | 1.78750297 |
| 24 | MAP4K2 | 1.73316374 |
| 25 | BCKDK | 1.52881697 |
| 26 | PRPF4B | 1.50752334 |
| 27 | INSRR | 1.48663479 |
| 28 | CCNB1 | 1.38985350 |
| 29 | FRK | 1.37838887 |
| 30 | CSNK1G3 | 1.37577323 |
| 31 | YES1 | 1.36580561 |
| 32 | EIF2AK1 | 1.35275339 |
| 33 | WEE1 | 1.31278003 |
| 34 | MAP2K7 | 1.31184652 |
| 35 | WNK3 | 1.31142542 |
| 36 | SIK3 | 1.22019255 |
| 37 | CSNK1G1 | 1.20991843 |
| 38 | TXK | 1.17941798 |
| 39 | KIT | 1.16358365 |
| 40 | PIM2 | 1.16131174 |
| 41 | TGFBR1 | 1.11351377 |
| 42 | CDC7 | 1.10469499 |
| 43 | EIF2AK2 | 1.10377801 |
| 44 | DYRK2 | 1.09870117 |
| 45 | TSSK6 | 1.09466506 |
| 46 | BMPR2 | 1.09122801 |
| 47 | TAOK2 | 1.06643040 |
| 48 | CSNK1A1L | 1.06613684 |
| 49 | MAPK13 | 1.05174100 |
| 50 | SGK2 | 1.03612769 |
| 51 | EIF2AK3 | 1.03008717 |
| 52 | MUSK | 1.02767070 |
| 53 | DYRK3 | 1.01687892 |
| 54 | MAP4K1 | 1.01358251 |
| 55 | CSNK1G2 | 1.01347755 |
| 56 | TESK2 | 1.00677038 |
| 57 | TEC | 1.00389854 |
| 58 | CDK7 | 1.00224886 |
| 59 | PLK4 | 0.99478064 |
| 60 | MAP2K2 | 0.98589417 |
| 61 | ATR | 0.96135239 |
| 62 | PAK4 | 0.89787863 |
| 63 | LIMK1 | 0.89517966 |
| 64 | BCR | 0.88142076 |
| 65 | BRSK1 | 0.87737366 |
| 66 | NEK2 | 0.87723759 |
| 67 | MAPKAPK3 | 0.87215864 |
| 68 | PLK1 | 0.86644905 |
| 69 | ADRBK2 | 0.82408418 |
| 70 | TTK | 0.81741008 |
| 71 | TAOK1 | 0.80439497 |
| 72 | NUAK1 | 0.80305613 |
| 73 | MAP3K12 | 0.79218837 |
| 74 | NME1 | 0.77915810 |
| 75 | ARAF | 0.77462154 |
| 76 | PLK3 | 0.77353995 |
| 77 | TAF1 | 0.77180888 |
| 78 | SYK | 0.75059375 |
| 79 | DAPK1 | 0.74485485 |
| 80 | BTK | 0.72710583 |
| 81 | TIE1 | 0.71287692 |
| 82 | CLK1 | 0.70585350 |
| 83 | MAP3K4 | 0.70507513 |
| 84 | AURKA | 0.68556663 |
| 85 | OBSCN | 0.67988538 |
| 86 | TESK1 | 0.66157967 |
| 87 | AKT3 | 0.65129562 |
| 88 | ERBB4 | 0.64782547 |
| 89 | CHEK2 | 0.63269856 |
| 90 | GRK1 | 0.62314213 |
| 91 | GRK7 | 0.62064806 |
| 92 | PASK | 0.61981478 |
| 93 | NLK | 0.61235707 |
| 94 | ERBB3 | 0.61214833 |
| 95 | STK10 | 0.60499253 |
| 96 | TLK1 | 0.60366016 |
| 97 | LYN | 0.60214993 |
| 98 | MYLK | 0.59847347 |
| 99 | BRSK2 | 0.59595249 |
| 100 | MAP3K14 | 0.59398653 |
| 101 | IKBKB | 0.59240290 |
| 102 | ATM | 0.58215497 |
| 103 | TNK2 | 0.57043901 |
| 104 | MAP3K6 | 0.55629329 |
| 105 | FLT3 | 0.54882295 |
| 106 | MARK1 | 0.52806730 |
| 107 | SGK494 | 0.52675663 |
| 108 | SGK223 | 0.52675663 |
| 109 | CSNK2A1 | 0.52383019 |
| 110 | CHEK1 | 0.52030146 |
| 111 | PIM1 | 0.51272422 |
| 112 | TYK2 | 0.50510404 |
| 113 | BRD4 | 0.50127562 |
| 114 | MAP2K6 | 0.49670343 |
| 115 | STK24 | 0.48550733 |
| 116 | STK4 | 0.47623787 |
| 117 | MAPK4 | 0.46767089 |
| 118 | PRKCI | 0.46211978 |
| 119 | JAK3 | 0.43912784 |
| 120 | RPS6KA5 | 0.43783561 |
| 121 | AURKB | 0.42966144 |
| 122 | PLK2 | 0.42603630 |
| 123 | MAP3K8 | 0.40037095 |
| 124 | DYRK1A | 0.40003534 |
| 125 | AKT2 | 0.39311441 |
| 126 | IKBKE | 0.39049204 |
| 127 | MAP3K5 | 0.38877276 |
| 128 | CSNK2A2 | 0.37745413 |
| 129 | FES | 0.37451504 |
| 130 | PAK1 | 0.36192890 |
| 131 | MARK3 | 0.34015244 |
| 132 | ABL2 | 0.33456456 |
| 133 | CSNK1A1 | 0.32737750 |
| 134 | ILK | 0.31040052 |
| 135 | RPS6KB2 | 0.30918805 |
| 136 | KDR | 0.30641320 |
| 137 | CSNK1E | 0.29549042 |
| 138 | PRKCE | 0.29437195 |
| 139 | MAP3K9 | 0.27481527 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | DNA replication_Homo sapiens_hsa03030 | 4.53799224 |
| 2 | Mismatch repair_Homo sapiens_hsa03430 | 4.17442569 |
| 3 | RNA polymerase_Homo sapiens_hsa03020 | 3.93680838 |
| 4 | Nucleotide excision repair_Homo sapiens_hsa03420 | 3.75358806 |
| 5 | Homologous recombination_Homo sapiens_hsa03440 | 3.29423762 |
| 6 | Ribosome_Homo sapiens_hsa03010 | 3.22422084 |
| 7 | Proteasome_Homo sapiens_hsa03050 | 3.10676538 |
| 8 | Base excision repair_Homo sapiens_hsa03410 | 3.03115051 |
| 9 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 2.85800683 |
| 10 | Basal transcription factors_Homo sapiens_hsa03022 | 2.78504453 |
| 11 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 2.32090442 |
| 12 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 2.09818810 |
| 13 | One carbon pool by folate_Homo sapiens_hsa00670 | 2.01506801 |
| 14 | Spliceosome_Homo sapiens_hsa03040 | 1.99341522 |
| 15 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.91216803 |
| 16 | Parkinsons disease_Homo sapiens_hsa05012 | 1.86801318 |
| 17 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 1.76536490 |
| 18 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 1.68565023 |
| 19 | Purine metabolism_Homo sapiens_hsa00230 | 1.67275631 |
| 20 | Huntingtons disease_Homo sapiens_hsa05016 | 1.59771962 |
| 21 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 1.57089247 |
| 22 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.53753921 |
| 23 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.48950468 |
| 24 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 1.47415383 |
| 25 | RNA degradation_Homo sapiens_hsa03018 | 1.44629073 |
| 26 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 1.44457915 |
| 27 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 1.38216614 |
| 28 | Sulfur metabolism_Homo sapiens_hsa00920 | 1.33907863 |
| 29 | Protein export_Homo sapiens_hsa03060 | 1.33301856 |
| 30 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.33097622 |
| 31 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 1.33032521 |
| 32 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.27796046 |
| 33 | RNA transport_Homo sapiens_hsa03013 | 1.22345561 |
| 34 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.22109765 |
| 35 | Steroid biosynthesis_Homo sapiens_hsa00100 | 1.19270830 |
| 36 | Sulfur relay system_Homo sapiens_hsa04122 | 1.14460500 |
| 37 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 1.11564050 |
| 38 | Alzheimers disease_Homo sapiens_hsa05010 | 1.11294913 |
| 39 | Folate biosynthesis_Homo sapiens_hsa00790 | 1.11016566 |
| 40 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 1.06563638 |
| 41 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.06046984 |
| 42 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.04771008 |
| 43 | Cell cycle_Homo sapiens_hsa04110 | 1.01240581 |
| 44 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.00374516 |
| 45 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.97044894 |
| 46 | Peroxisome_Homo sapiens_hsa04146 | 0.81760241 |
| 47 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.81441348 |
| 48 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.77784234 |
| 49 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.77340521 |
| 50 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.76279568 |
| 51 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.74456145 |
| 52 | Metabolic pathways_Homo sapiens_hsa01100 | 0.74381654 |
| 53 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.70273032 |
| 54 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.66371676 |
| 55 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.65599156 |
| 56 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.59879842 |
| 57 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.59419786 |
| 58 | Retinol metabolism_Homo sapiens_hsa00830 | 0.58050449 |
| 59 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.57124269 |
| 60 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.56839374 |
| 61 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.56578525 |
| 62 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.56448813 |
| 63 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.55486263 |
| 64 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.54897776 |
| 65 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.54305025 |
| 66 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 0.54128005 |
| 67 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.52963393 |
| 68 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.52358274 |
| 69 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.50977688 |
| 70 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.50608777 |
| 71 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.50586471 |
| 72 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.50321822 |
| 73 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.49041600 |
| 74 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.48999444 |
| 75 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.48142577 |
| 76 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.48076238 |
| 77 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.47143386 |
| 78 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.46689540 |
| 79 | Carbon metabolism_Homo sapiens_hsa01200 | 0.45949278 |
| 80 | Phototransduction_Homo sapiens_hsa04744 | 0.45369548 |
| 81 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.43567106 |
| 82 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.42711587 |
| 83 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.42373310 |
| 84 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 0.42162811 |
| 85 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.41004718 |
| 86 | * SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.39964309 |
| 87 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.39663145 |
| 88 | Measles_Homo sapiens_hsa05162 | 0.39219967 |
| 89 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.38939473 |
| 90 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.37261643 |
| 91 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.37104737 |
| 92 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.35358101 |
| 93 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 0.35187887 |
| 94 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.34579403 |
| 95 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.33727317 |
| 96 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.33608218 |
| 97 | Galactose metabolism_Homo sapiens_hsa00052 | 0.32259857 |
| 98 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.31659311 |
| 99 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.29920403 |
| 100 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.29540389 |
| 101 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.28920805 |
| 102 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.28337953 |
| 103 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.27965301 |
| 104 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.27411451 |
| 105 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.26845493 |
| 106 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.26759014 |
| 107 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.26529436 |
| 108 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.26474860 |
| 109 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.25534624 |
| 110 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.25435972 |
| 111 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.25375858 |
| 112 | Legionellosis_Homo sapiens_hsa05134 | 0.24411736 |
| 113 | Influenza A_Homo sapiens_hsa05164 | 0.23746037 |
| 114 | ABC transporters_Homo sapiens_hsa02010 | 0.23704011 |
| 115 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.23274277 |
| 116 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.22074824 |
| 117 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.21313958 |
| 118 | Nicotine addiction_Homo sapiens_hsa05033 | 0.21165465 |
| 119 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.18327035 |
| 120 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.14548141 |
| 121 | Histidine metabolism_Homo sapiens_hsa00340 | 0.13465127 |
| 122 | Circadian rhythm_Homo sapiens_hsa04710 | 0.09786076 |

